{ "bcoid": "GLY_000462", "title": "Human Somatic Mutation", "description": "The Human Somatic Mutation dataset contains human [taxid:9606] somatic mutation data from EBI Variant ...", "filename": "human_protein_mutation_somatic.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Somatic Mutations", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "P25445-1...", "118..." ], [ "P21802-1...", "267..." ] ], "headers": [ "uniprotkb_ca...", "aa_pos..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "aa_pos" }, { "type": "string", "label": "gene_name" }, { "type": "string", "label": "protein_name" }, { "type": "string", "label": "data_source" }, { "type": "string", "label": "dbsnp_id" }, { "type": "string", "label": "cosmic_id" }, { "type": "string", "label": "cytogenic_band" }, { "type": "string", "label": "chromosome_id" }, { "type": "string", "label": "position" }, { "type": "string", "label": "ref_allele" }, { "type": "string", "label": "alt_allele" }, { "type": "string", "label": "ref_aa" }, { "type": "string", "label": "alt_aa" }, { "type": "string", "label": "begin_aa_pos" }, { "type": "string", "label": "end_aa_pos" }, { "type": "string", "label": "frequency" }, { "type": "string", "label": "mutation_type" }, { "type": "string", "label": "polyphen_score" }, { "type": "string", "label": "polyphen_prediction" }, { "type": "string", "label": "sift_score" }, { "type": "string", "label": "sift_prediction" }, { "type": "string", "label": "somatic_status" }, { "type": "string", "label": "disease" }, { "type": "string", "label": "disease_description" }, { "type": "string", "label": "disease_evidence_ECO:0000269" }, { "type": "string", "label": "disease_evidence_ECO:0000313" }, { "type": "string", "label": "xref_key" }, { "type": "string", "label": "xref_id" }, { "type": "string", "label": "mim_id" }, { "type": "string", "label": "do_id" }, { "type": "string", "label": "filter_flags" }, { "type": "string", "label": "glyco_annotation" } ], [ "P25445-1", "118", "FAS", "Tumor necrosis factor receptor superfamily member 6", "Ensembl,dbSNP", "rs121913083", "", "10q23.31", "10", "89008907", "A", "G", "N", "S", "118", "118", "", "missense", "0.83875", "possibly damaging, probably damaging", "0.035", "deleterious, tolerated", "1", "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC", "", "", "ClinVar:RCV000017975", "protein_xref_dbsnp", "rs121913083", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NCT->SCT).", "glycancount:0, pmidcount:2" ], [ "P21802-1", "267", "FGFR2", "Fibroblast growth factor receptor", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Fibroblast growth factor receptor", "Ensembl,dbSNP", 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"2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Fibroblast growth factor receptor", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "613659", "10534", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Fibroblast growth factor receptor", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "101600", "14705", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "658", "FGFR2", "Fibroblast growth factor receptor", "Ensembl,dbSNP", "rs1057520029", "", "10q26.13", "10", "121488003", "T", "A", "K", "N", "658", "658", "", "missense", "0.673", "benign, possibly damaging, probably damaging", "0.0", "deleterious", "1", "Endometrial neoplasm", "", "", "ClinVar:RCV000433692", "protein_xref_dbsnp", "rs1057520029", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KKT->NKT).", "glycancount:0, pmidcount:0" ], [ "P01106-1", "58", "MYC", "Myc proto-oncogene protein", "ExAC,dbSNP,gnomAD", "rs756091827", "", "8q24.21", "8", "127738435", "C", "T", "T", "I", "58", "58", "", "missense", "0.87", "possibly damaging, probably damaging", "0.0", "deleterious", "1", "Non-Hodgkin lymphoma (NHL)", "", "", "ClinVar:RCV000434207,pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000430246,pubmed:24493721,ClinVar:RCV000440950,pubmed:22918138,pubmed:23619274,ClinVar:RCV000423713,pubmed:20301782,ClinVar:RCV000441422,ClinVar:RCV000419562", "protein_xref_dbsnp", "rs756091827", "605027", "0060060", "Somatic mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "glycancount:0, pmidcount:2" ], [ "P01106-1", "58", "MYC", "Myc proto-oncogene protein", "ExAC,TOPMed,dbSNP,gnomAD", "rs750664148", "", "8q24.21", "8", "127738434", "A", "C", "T", "P", "58", "58", "", "missense", "0.5165", "benign, probably damaging", "0.03", "deleterious", "1", "Non-Hodgkin lymphoma (NHL)", "", "", "ClinVar:RCV000438328,pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000445053,pubmed:24493721,ClinVar:RCV000437207,pubmed:20301782,ClinVar:RCV000420006,ClinVar:RCV000426528", "protein_xref_dbsnp", "rs750664148", "605027", "0060060", "Somatic mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "glycancount:0, pmidcount:2" ], [ "P30533-1", "116", "LRPAP1", "Alpha-2-macroglobulin receptor-associated protein", "ExAC,TOPMed,dbSNP,gnomAD", "rs34897511", "", "4p16.3", "4", "3524909", "T", "C", "N", "S", "116", "116", "", "missense", "0.003", "benign", "0.82", "tolerated", "1", "Malignant tumor of prostate", "", "", "pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000149131", "protein_xref_dbsnp", "rs34897511", "176807", "10283", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "glycancount:0, pmidcount:0" ], [ "P21860-1", "297", "ERBB3", "Receptor tyrosine-protein kinase erbB-3", "dbSNP,gnomAD", "rs1057519891", "COSM941489", "12q13.2", "12", "56088557", "G", "A", "D", "N", "297", "297", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Uterine Carcinosarcoma", "", "", "ClinVar:RCV000429499,ClinVar:RCV000424484,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000435793,ClinVar:RCV000418815", "protein_xref_dbsnp", "rs1057519891", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQT->NQT).", "glycancount:0, pmidcount:0" ], [ "P25445-1", "118", "FAS", "Tumor necrosis factor receptor superfamily member 6", "Ensembl,dbSNP", "rs121913083", "", "10q23.31", "10", "89008907", "A", "G", "N", "S", "118", "118", "", "missense", "0.83875", "possibly damaging, probably damaging", "0.035", "deleterious, tolerated", "1", "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC", "", "", "ClinVar:RCV000017975", "protein_xref_dbsnp", "rs121913083", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NCT->SCT).", "glycancount:0, pmidcount:2" ], [ "P04626-1", "1049", "ERBB2", "Receptor protein-tyrosine kinase", "ExAC,dbSNP,gnomAD", "rs104886025", "", "17q12", "17", "39726990", "G", "A", "S", "N", "1049", "1049", "", "missense", "0.502", "benign, probably damaging", "0.42", "tolerated", "1", "Familial cancer of breast", "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic 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"rs145897519", "COSM109908", "11q13.2", "11", "68389970", "C", "T", "S", "F", "501", "501", "", "missense", "0.905", "possibly damaging", "0.01", "deleterious", "1", "", "", "", "", "protein_xref_dbsnp", "rs145897519", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAF).", "glycancount:0, pmidcount:0" ], [ "P00533-1", "810", "EGFR", "Epidermal growth factor receptor", "Ensembl,dbSNP", "rs121913230", "", "7p11.2", "7", "55181437", "G", "A", "G", "S", "810", "810", "", "missense", "0.6565", "benign, probably damaging", "0.06", "deleterious, tolerated", "1", "Squamous cell carcinoma", "", "", "ClinVar:RCV000444211", "protein_xref_dbsnp", "rs121913230", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIG->NIS).", "glycancount:0, pmidcount:0" ], [ "P01106-1", "58", "MYC", "Myc proto-oncogene protein", "ExAC,dbSNP,gnomAD", "rs756091827", "", "8q24.21", "8", "127738435", "C", "T", "T", "I", "58", "58", "", "missense", "0.87", "possibly damaging, probably damaging", "0.0", "deleterious", "1", "Non-Hodgkin lymphoma (NHL)", "", "", "ClinVar:RCV000434207,pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000430246,pubmed:24493721,ClinVar:RCV000440950,pubmed:22918138,pubmed:23619274,ClinVar:RCV000423713,pubmed:20301782,ClinVar:RCV000441422,ClinVar:RCV000419562", "protein_xref_dbsnp", "rs756091827", "605027", "0060060", "Somatic mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "glycancount:0, pmidcount:2" ], [ "P01106-1", "58", "MYC", "Myc proto-oncogene protein", "ExAC,TOPMed,dbSNP,gnomAD", "rs750664148", "", "8q24.21", "8", "127738434", "A", "C", "T", "P", "58", "58", "", "missense", "0.5165", "benign, probably damaging", "0.03", "deleterious", "1", "Non-Hodgkin lymphoma (NHL)", "", "", "ClinVar:RCV000438328,pubmed:23562183,pubmed:24627688,pubmed:25311215,ClinVar:RCV000445053,pubmed:24493721,ClinVar:RCV000437207,pubmed:20301782,ClinVar:RCV000420006,ClinVar:RCV000426528", "protein_xref_dbsnp", "rs750664148", "605027", "0060060", "Somatic mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "glycancount:0, pmidcount:2" ], [ "P04626-1", "1049", "ERBB2", "Receptor tyrosine-protein kinase erbB-2", "ExAC,dbSNP,gnomAD", "rs104886025", "", "17q12", "17", "39726990", "G", "A", "S", "N", "1049", "1049", "", "missense", "0.502", "benign, probably damaging", "0.42", "tolerated", "1", "Familial cancer of breast", "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.", "", "pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000119365", "protein_xref_dbsnp", "rs104886025", "114480", "1612", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "glycancount:0, pmidcount:0" ], [ "P08581-1", "1173", "MET", "Hepatocyte growth factor receptor", "Ensembl,dbSNP", "rs121913675", "", "7q31.2", "7", "116778953", "C", "T", "T", "I", "1173", "1173", "", "missense", "0.602", "possibly damaging", "0.08", "tolerated", "1", "Hepatocellular carcinoma (HCC)", "A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes.", "pubmed:9927037", "ClinVar:RCV000014902", "protein_xref_dbsnp", "rs121913675", "114550", "684", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NET->NEI).", "glycancount:0, pmidcount:0" ], [ "P11362-1", "656", "FGFR1", "Fibroblast growth factor receptor 1", "dbSNP,gnomAD", "rs1057519897", "", "8p11.23", "8", "38414788", "C", "G", "K", "N", "656", "656", "", "missense", "0.9885", "probably damaging", "0.0", "deleterious, deleterious - low confidence", "1", "Medulloblastoma (MDB)", "", "", "ClinVar:RCV000443011,ClinVar:RCV000444182,ClinVar:RCV000422833,ClinVar:RCV000426798,ClinVar:RCV000437662", "protein_xref_dbsnp", "rs1057519897", "114550", "684", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTT->NTT).", "glycancount:0, pmidcount:0" ], [ "P11362-1", "656", "FGFR1", "Fibroblast growth factor receptor 1", "dbSNP,gnomAD", "rs1057519897", "", "8p11.23", "8", "38414788", "C", "G", "K", "N", "656", "656", "", "missense", "0.9885", "probably damaging", "0.0", "deleterious, deleterious - low confidence", "1", "Medulloblastoma (MDB)", "", "", "ClinVar:RCV000443011,ClinVar:RCV000444182,ClinVar:RCV000422833,ClinVar:RCV000426798,ClinVar:RCV000437662", "protein_xref_dbsnp", "rs1057519897", "247640", "9952", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTT->NTT).", "glycancount:0, pmidcount:0" ], [ "P11362-1", "656", "FGFR1", "Fibroblast growth factor receptor 1", "dbSNP,gnomAD", "rs1057519897", "", "8p11.23", "8", "38414788", "C", "G", "K", "N", "656", "656", "", "missense", "0.9885", "probably damaging", "0.0", "deleterious, deleterious - low confidence", "1", "Medulloblastoma (MDB)", "", "", "ClinVar:RCV000443011,ClinVar:RCV000444182,ClinVar:RCV000422833,ClinVar:RCV000426798,ClinVar:RCV000437662", "protein_xref_dbsnp", "rs1057519897", "155255", "0050902", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTT->NTT).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "613659", "10534", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "101600", "14705", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "658", "FGFR2", "Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs1057520029", "", "10q26.13", "10", "121488003", "T", "A", "K", "N", "658", "658", "", "missense", "0.673", "benign, possibly damaging, probably damaging", "0.0", "deleterious", "1", "Endometrial neoplasm", "", "", "ClinVar:RCV000433692", "protein_xref_dbsnp", "rs1057520029", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KKT->NKT).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 13 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 13 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 13 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "613659", "10534", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 13 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "101600", "14705", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "659", "FGFR2", "Isoform 13 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs1057520029", "", "10q26.13", "10", "121488003", "T", "A", "K", "N", "659", "659", "", "missense", "0.673", "benign, possibly damaging, probably damaging", "0.0", "deleterious", "1", "Endometrial neoplasm", "", "", "ClinVar:RCV000433692", "protein_xref_dbsnp", "rs1057520029", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTT->NTT).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 15 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 15 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 15 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "613659", "10534", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 15 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "101600", "14705", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 17 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 17 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 17 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "613659", "10534", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 17 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "101600", "14705", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "659", "FGFR2", "Isoform 17 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs1057520029", "", "10q26.13", "10", "121488003", "T", "A", "K", "N", "659", "659", "", "missense", "0.673", "benign, possibly damaging, probably damaging", "0.0", "deleterious", "1", "Endometrial neoplasm", "", "", "ClinVar:RCV000433692", "protein_xref_dbsnp", "rs1057520029", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTT->NTT).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 3 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 3 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 3 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "613659", "10534", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 3 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "101600", "14705", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "659", "FGFR2", "Isoform 3 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs1057520029", "", "10q26.13", "10", "121488003", "T", "A", "K", "N", "659", "659", "", "missense", "0.673", "benign, possibly damaging, probably damaging", "0.0", "deleterious", "1", "Endometrial neoplasm", "", "", "ClinVar:RCV000433692", "protein_xref_dbsnp", "rs1057520029", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTT->NTT).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 5 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 5 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "123500", "2339", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 5 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "613659", "10534", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21802-1", "267", "FGFR2", "Isoform 5 of Fibroblast growth factor receptor 2", "Ensembl,dbSNP", "rs121918505", "", "10q26.13", "10", "121520119", "A", "G", "S", "P", "267", "267", "", "missense", "0.6105", "benign, possibly damaging, probably damaging", "0.05", "deleterious, tolerated", "1", "Pfeiffer syndrome (ACS5)", "The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.", "pubmed:10574673,pubmed:11173845,pubmed:11380921,pubmed:11781872,pubmed:17803937,pubmed:7581378,pubmed:7655462,pubmed:7874170,pubmed:7987400,pubmed:8528214,pubmed:8644708,pubmed:8946174,pubmed:8956050,pubmed:9152842,pubmed:9521581,pubmed:9677057", "pubmed:20301628,ClinVar:RCV000408850,ClinVar:RCV000690962,pubmed:23852704,ClinVar:RCV000014214,pubmed:20301628,ClinVar:RCV000014213", "protein_xref_dbsnp", "rs121918505", "101600", "14705", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NAS->NAP).", "glycancount:0, pmidcount:0" ], [ "P21860-1", "297", "ERBB3", "Receptor tyrosine-protein kinase erbB-3", "dbSNP,gnomAD", "rs1057519891", "COSM941489", "12q13.2", "12", "56088557", "G", "A", "D", "N", "297", "297", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Uterine Carcinosarcoma", "", "", "ClinVar:RCV000429499,ClinVar:RCV000424484,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000435793,ClinVar:RCV000418815", "protein_xref_dbsnp", "rs1057519891", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQT->NQT).", "glycancount:0, pmidcount:0" ], [ "P21860-1", "297", "ERBB3", "Isoform 3 of Receptor tyrosine-protein kinase erbB-3", "dbSNP,gnomAD", "rs1057519891", "COSM941489", "12q13.2", "12", "56088557", "G", "A", "D", "N", "297", "297", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "Uterine Carcinosarcoma", "", "", "ClinVar:RCV000429499,ClinVar:RCV000424484,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000435793,ClinVar:RCV000418815", "protein_xref_dbsnp", "rs1057519891", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQT->NQT).", "glycancount:0, pmidcount:0" ], [ "P25445-1", "118", "FAS", "Tumor necrosis factor receptor superfamily member 6", "Ensembl,dbSNP", "rs121913083", "", "10q23.31", "10", "89008907", "A", "G", "N", "S", "118", "118", "", "missense", "0.83875", "possibly damaging, probably damaging", "0.035", "deleterious, tolerated", "1", "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC", "", "", "ClinVar:RCV000017975", "protein_xref_dbsnp", "rs121913083", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NCT->SCT).", "glycancount:0, pmidcount:2" ], [ "P25445-1", "118", "FAS", "Isoform 6 of Tumor necrosis factor receptor superfamily member 6", "Ensembl,dbSNP", "rs121913083", "", "10q23.31", "10", "89008907", "A", "G", "N", "S", "118", "118", "", "missense", "0.83875", "possibly damaging, probably damaging", "0.035", "deleterious, tolerated", "1", "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC", "", "", "ClinVar:RCV000017975", "protein_xref_dbsnp", "rs121913083", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NCT->SCT).", "glycancount:0, pmidcount:2" ], [ "P25445-1", "118", "FAS", "Isoform 7 of Tumor necrosis factor receptor superfamily member 6", "Ensembl,dbSNP", "rs121913083", "", "10q23.31", "10", "89008907", "A", "G", "N", "S", "118", "118", "", "missense", "0.83875", "possibly damaging, probably damaging", "0.035", "deleterious, tolerated", "1", "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC", "", "", "ClinVar:RCV000017975", "protein_xref_dbsnp", "rs121913083", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-site-loss (NCT->SCT).", "glycancount:0, pmidcount:2" ], [ "P30533-1", "116", "LRPAP1", "Alpha-2-macroglobulin receptor-associated protein", "ExAC,TOPMed,dbSNP,gnomAD", "rs34897511", "", "4p16.3", "4", "3524909", "T", "C", "N", "S", "116", "116", "", "missense", "0.003", "benign", "0.82", "tolerated", "1", "Malignant tumor of prostate", "", "", "pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000149131", "protein_xref_dbsnp", "rs34897511", "176807", "10283", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "glycancount:0, pmidcount:0" ], [ "Q13003-1", "232", "GRIK3", "Glutamate receptor ionotropic, kainate 3", "Ensembl,NCI-TCGA", "rs143358361", "COSM4007542", "1p34.3", "1", "36872226", "C", "T", "D", "N", "232", "232", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "protein_xref_dbsnp", "rs143358361", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DCS->NCS).", "glycancount:0, pmidcount:0" ], [ "Q13003-1", "232", "GRIK3", "Isoform 2 of Glutamate receptor ionotropic, kainate 3", "Ensembl,NCI-TCGA", "rs143358361", "COSM4007542", "1p34.3", "1", "36872226", "C", "T", "D", "N", "232", "232", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "protein_xref_dbsnp", "rs143358361", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DCS->NCS).", "glycancount:0, pmidcount:0" ], [ "Q16849-1", "688", "PTPRN", "Receptor-type tyrosine-protein phosphatase-like N", "Ensembl,NCI-TCGA", "rs142270672", "COSM109389", "2q35", "2", "219297259", "C", "T", "D", "N", "688", "688", "", "missense", "0.981", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "protein_xref_dbsnp", "rs142270672", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIS->NIS).", "glycancount:0, pmidcount:0" ], [ "Q9UN66-1", "129", "PCDHB8", "Protocadherin beta-8", "Ensembl,NCI-TCGA", "rs143539367", "COSM109321", "5q31.3", "5", "141178419", "G", "A", "D", "N", "129", "129", "", "missense", "0.9175", "possibly damaging, probably damaging", "0.0", "deleterious - low confidence", "1", "", "", "", "", "protein_xref_dbsnp", "rs143539367", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DHS->NHS).", "glycancount:0, pmidcount:0" ] ] }, "readme": "Name\n - Human Somatic Mutation\n\nVersion\n - 1.5.30\n\nCreated on\n - 2020-04-03T17:17:42.572968\n\nModified on\n - 2020-04-03T17:38:59.074619\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Xavier Holmes [xavierh@email.gwu.edu]\n\nAuthors\n - Maria Martin [martin@ebi.ac.uk], Preethi Vasudev [pvasudev@ebi.ac.uk]\n\nChecksum\n - \n\nUsability Domain\n - The Human Somatic Mutation dataset contains human [taxid:9606] somatic mutation data from EBI Variant Data API. Only nonsynonymous single-nucleotide variations (nsSNVs) somatic mutations are integrated. The dataset is from 2019-11 UniProtKB release .If you use this dataset provide proper attribution to GlyGen and EBI-EMBL-UniProtKB.\n\nDescription Domain\n Keywords\n - single-nucleotide variations (nsSNVs)\n - somatic mutations\n - dbSNP\n - disease\n - ClinVar\n\n Pipeline Steps\n - Step-1: The script extracts the somatic (somatic_staus = 1) mutation data from the input file and maps the UniProtKB accession to the UniProtKB canonical accessions\n\nExecution Domain\n Scripts - https://github.com/GW-HIVE/glygen-backend-integration/blob/master/pipeline/integrator/make-protein-dataset.py\n\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: dbSNP-homo-sapiens.tsv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.30/source/dbSNP-homo-sapiens.tsv\n Name: human_protein_masterlist.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.30/reviewed/human_protein_masterlist.csv\n Output Subdomain\n Name: human_protein_mutation_somatic.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.30/reviewed/human_protein_mutation_somatic.csv\n Name: human_protein_mutation_somatic.stat.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.30/reviewed/human_protein_mutation_somatic.stat.csv\n\nFields\n Name: \"alt_allele\"\n Description: \"Alternate allele\"\n Unique Values: \"4\"\n Name: \"uniprotkb_canonical_ac\"\n Description: \"Accession assigned to the protein isoform chosen to be the canonical sequence to which all positional annotation refers in UniProtKB database\"\n Unique Values: \"13\"\n Name: \"filter_flags\"\n Description: \"Filter tags/flags assigned to the mutation entries that have passed the mutation filter criteria\"\n Unique Values: \"15\"\n Name: \"somatic_status\"\n Description: \"The status of the variant whether it is germline (somatic status =0) or somatic (somatic status =1) variant\"\n Unique Values: \"1\"\n Name: \"end_aa_pos\"\n Description: \"End position of the amino acid in the sequence of a protein in UniProtKB\"\n Unique Values: \"15\"\n Name: \"frequency\"\n Description: \"Global minor allele frequency (MAF): dbSNP is reporting the minor allele frequency for each rs included in a default global population. Since this is being provided to distinguish common polymorphism from rare variants\n Unique Values: \"1\"\n Name: \"aa_pos\"\n Description: \"Position of the amino acid in canonical sequence of protein in the UniProtKB database\"\n Unique Values: \"15\"\n Name: \"dbsnp_id\"\n Description: \"A reference SNP ID number\n Unique Values: \"15\"\n Name: \"ref_allele\"\n Description: \"Reference allele\"\n Unique Values: \"4\"\n Name: \"xref_id\"\n Description: \"\"\n Unique Values: \"15\"\n Name: \"mim_id\"\n Description: \"Disease ID from the OMIM database\"\n Unique Values: \"10\"\n Name: \"begin_aa_pos\"\n Description: \"Start position of the amino acid in the sequence of a protein in UniProtKB\"\n Unique Values: \"15\"\n Name: \"cytogenic_band\"\n Description: \"One of the subregions of a chromosome visible microscopically after special staining\"\n Unique Values: \"13\"\n Name: \"mutation_type\"\n Description: \"Types of nonsynonymous substitution mutations\"\n Unique Values: \"1\"\n Name: \"glyco_annotation\"\n Description: \"\"\n Unique Values: \"2\"\n Name: \"ref_aa\"\n Description: \"Reference amino acid residue\"\n Unique Values: \"6\"\n Name: \"sift_score\"\n Description: \"SIFT predicts whether an amino acid substitution is likely to affect protein function based on sequence homology and the physico-chemical similarity between the alternate amino acids. The data we provide for each amino acid substitution is a score and a qualitative prediction (either 'tolerated' or 'deleterious'). The score is the normalized probability that the amino acid change is tolerated so scores nearer zero are more likely to be deleterious. The qualitative prediction is derived from this score such that substitutions with a score < 0.05 are called 'deleterious' and all others are called 'tolerated\"\n Unique Values: \"9\"\n Name: \"polyphen_score\"\n Description: \"The score assigned to a amino acid substitution by a tool called as PolyPhen (=Polymorphism Phenotyping) which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations. The PolyPhen score ranges from 0.0 (tolerated) to 1.0 (deleterious). Variants with scores of 0.0 are predicted to be benign. Values closer to 1.0 are more confidently predicted to be deleterious\"\n Unique Values: \"14\"\n Name: \"polyphen_prediction\"\n Description: \"The PolyPhen prediction values are - greater than 0.908 - \"Probably Damaging\"; greater than 0.446 and less than or equal to 0.908 - \"Possibly Damaging\"; less than or equal to 0.446 - \"Benign\"\n Unique Values: \"6\"\n Name: \"protein_name\"\n Description: \"Protein name in the UniProtKB\"\n Unique Values: \"25\"\n Name: \"disease_evidence_ECO:0000313\"\n Description: \"The evidence that could be a PMID or a ClinVar ID that associates disease with the variant\"\n Unique Values: \"12\"\n Name: \"sift_prediction\"\n Description: \"The SIFT qualitative prediction is derived from this score such that substitutions with a score < 0.05 are called 'deleterious' and all others are called 'tolerated\"\n Unique Values: \"5\"\n Name: \"disease_description\"\n Description: \"The disease description and/or definition\"\n Unique Values: \"4\"\n Name: \"do_id\"\n Description: \"Disease Ontology identifier\"\n Unique Values: \"10\"\n Name: \"data_source\"\n Description: \"The source database for the data\"\n Unique Values: \"5\"\n Name: \"chromosome_id\"\n Description: \"Chromosome number identifier\"\n Unique Values: \"10\"\n Name: \"disease\"\n Description: \"The disease name for the cell line\"\n Unique Values: \"11\"\n Name: \"alt_aa\"\n Description: \"Altered amino acid residue\"\n Unique Values: \"5\"\n Name: \"cosmic_id\"\n Description: \"Legacy mutation identifier (COSM) in Catalogue of Somatic Mutations in Cancer (COSMIC) represents existing COSM mutation identifiers. This identifier remains the same between different assemblies (GRCh37 and GRCh38). All the COSM ids at the same genomic location have been collapsed into one representative COSM id. These ids are maintained to help track existing mutations\"\n Unique Values: \"6\"\n Name: \"position\"\n Description: \"Chromosome position of a gene\"\n Unique Values: \"15\"\n Name: \"xref_key\"\n Description: \"\"\n Unique Values: \"1\"\n Name: \"gene_name\"\n Description: \"Official gene name/symbol assigned to the gene. Human gene names/symbols are approved by the HUGO Gene Nomenclature Committee (HGNC)\n Unique Values: \"13\"\n Name: \"disease_evidence_ECO:0000269\"\n Description: \"The PMID evidence for the association of the disease with the variant.\"\n Unique Values: \"3\"", "downloadurl": "/ln2data/releases/data/v-1.5.30/reviewed/human_protein_mutation_somatic.csv" }