{ "bcoid": "GLY_000459", "title": "Human Germline Mutation", "description": "The Human Germline Mutation dataset contains human [taxid:9606] germline mutation data from EBI Variant ...", "filename": "human_protein_mutation_germline.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Germline Mutations", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "P06731-1...", "35..." ], [ "P06731-1...", "35..." ] ], "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": "dbsnp_id" }, { "type": "string", "label": "cosmic_id" }, { "type": "string", "label": "description" }, { "type": "string", "label": "evidence_ECO:0000269" }, { "type": "string", "label": "evidence_ECO:0000313" }, { "type": "string", "label": "cytogenic_band" }, { "type": "string", "label": "chr_id" }, { "type": "string", "label": "chr_pos" }, { "type": "string", "label": "ref_nt" }, { "type": "string", "label": "alt_nt" }, { "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": "minor_allelic_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_xrefs" }, { "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" } ], [ "P06731-1", "35", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1189230508", "", "", "", "", "19q13.2", "19", "41709720G>", "C", "null", "K", "N", "35", "35", "", "missense", "0.127", "benign", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs1189230508", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLT->NLT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "35", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1189230508", "", "", "", "", "19q13.2", "19", "41709720G>", "C", "null", "K", "N", "35", "35", "", "missense", "0.127", "benign", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_topmed", "rs1189230508", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLT->NLT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "38", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782785872", "", "", "", "", "19q13.2", "19", "41709728T>", "A", "null", "I", "N", "38", "38", "", "missense", "0.037", "benign", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs782785872", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IES->NES).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "38", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782785872", "", "", "", "", "19q13.2", "19", "41709728T>", "A", "null", "I", "N", "38", "38", "", "missense", "0.037", "benign", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_exac", "rs782785872", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IES->NES).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "38", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782785872", "", "", "", "", "19q13.2", "19", "41709728T>", "A", "null", "I", "N", "38", "38", "", "missense", "0.037", "benign", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_topmed", "rs782785872", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IES->NES).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "38", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782785872", "", "", "", "", "19q13.2", "19", "41709728T>", "A", "null", "I", "N", "38", "38", "", "missense", "0.037", "benign", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_gnomad", "rs782785872", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IES->NES).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "46", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs140477498", "", "", "", "", "19q13.2", "19", "41709751G>", "A", "null", "A", "T", "46", "46", "0.02236", "missense", "0.54", "possibly damaging", "0.12", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs140477498", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "46", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs140477498", "", "", "", "", "19q13.2", "19", "41709751G>", "A", "null", "A", "T", "46", "46", "0.02236", "missense", "0.54", "possibly damaging", "0.12", "tolerated", "0", "", "", "", "", "", "protein_xref_1000genomes", "rs140477498", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "46", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs140477498", "", "", "", "", "19q13.2", "19", "41709751G>", "A", "null", "A", "T", "46", "46", "0.02236", "missense", "0.54", "possibly damaging", "0.12", "tolerated", "0", "", "", "", "", "", "protein_xref_esp", "rs140477498", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "46", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs140477498", "", "", "", "", "19q13.2", "19", "41709751G>", "A", "null", "A", "T", "46", "46", "0.02236", "missense", "0.54", "possibly damaging", "0.12", "tolerated", "0", "", "", "", "", "", "protein_xref_exac", "rs140477498", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "46", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs140477498", "", "", "", "", "19q13.2", "19", "41709751G>", "A", "null", "A", "T", "46", "46", "0.02236", "missense", "0.54", "possibly damaging", "0.12", "tolerated", "0", "", "", "", "", "", "protein_xref_topmed", "rs140477498", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "46", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs140477498", "", "", "", "", "19q13.2", "19", "41709751G>", "A", "null", "A", "T", "46", "46", "0.02236", "missense", "0.54", "possibly damaging", "0.12", "tolerated", "0", "", "", "", "", "", "protein_xref_gnomad", "rs140477498", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "104", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs370822239", "", "", "", "", "19q13.2", "19", "41709926A>", "G", "null", "N", "S", "104", "104", "", "missense", "0.55", "possibly damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs370822239", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "glycancount:3, pmidcount:0" ], [ "P06731-1", "104", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs370822239", "", "", "", "", "19q13.2", "19", "41709926A>", "G", "null", "N", "S", "104", "104", "", "missense", "0.55", "possibly damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_esp", "rs370822239", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "glycancount:3, pmidcount:0" ], [ "P06731-1", "104", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs370822239", "", "", "", "", "19q13.2", "19", "41709926A>", "G", "null", "N", "S", "104", "104", "", "missense", "0.55", "possibly damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_exac", "rs370822239", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "glycancount:3, pmidcount:0" ], [ "P06731-1", "104", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs370822239", "", "", "", "", "19q13.2", "19", "41709926A>", "G", "null", "N", "S", "104", "104", "", "missense", "0.55", "possibly damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_topmed", "rs370822239", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "glycancount:3, pmidcount:0" ], [ "P06731-1", "104", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs370822239", "", "", "", "", "19q13.2", "19", "41709926A>", "G", "null", "N", "S", "104", "104", "", "missense", "0.55", "possibly damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_gnomad", "rs370822239", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "glycancount:3, pmidcount:0" ], [ "P06731-1", "106", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs150911810", "", "", "", "", "19q13.2", "19", "41709932C>", "G", "null", "S", "C", "106", "106", "", "missense", "0.982", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs150911810", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAC).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "106", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs150911810", "", "", "", "", "19q13.2", "19", "41709932C>", "G", "null", "S", "C", "106", "106", "", "missense", "0.982", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_esp", "rs150911810", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAC).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "106", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs150911810", "", "", "", "", "19q13.2", "19", "41709932C>", "G", "null", "S", "C", "106", "106", "", "missense", "0.982", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_exac", "rs150911810", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAC).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "106", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs150911810", "", "", "", "", "19q13.2", "19", "41709932C>", "G", "null", "S", "C", "106", "106", "", "missense", "0.982", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_topmed", "rs150911810", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAC).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "106", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs150911810", "", "", "", "", "19q13.2", "19", "41709932C>", "G", "null", "S", "C", "106", "106", "", "missense", "0.982", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_gnomad", "rs150911810", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAC).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "113", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs35091611", "", "", "", "", "19q13.2", "19", "41709953T>", "C", "null", "I", "T", "113", "113", "0.1296", "missense", "0.0", "benign", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs35091611", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "113", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs35091611", "", "", "", "", "19q13.2", "19", "41709953T>", "C", "null", "I", "T", "113", "113", "0.1296", "missense", "0.0", "benign", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_1000genomes", "rs35091611", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "113", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs35091611", "", "", "", "", "19q13.2", "19", "41709953T>", "C", "null", "I", "T", "113", "113", "0.1296", "missense", "0.0", "benign", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_esp", "rs35091611", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "113", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs35091611", "", "", "", "", "19q13.2", "19", "41709953T>", "C", "null", "I", "T", "113", "113", "0.1296", "missense", "0.0", "benign", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_exac", "rs35091611", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "113", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs35091611", "", "", "", "", "19q13.2", "19", "41709953T>", "C", "null", "I", "T", "113", "113", "0.1296", "missense", "0.0", "benign", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_topmed", "rs35091611", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "113", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs35091611", "", "", "", "", "19q13.2", "19", "41709953T>", "C", "null", "I", "T", "113", "113", "0.1296", "missense", "0.0", "benign", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs35091611", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "113", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs35091611", "", "", "", "", "19q13.2", "19", "41709953T>", "C", "null", "I", "T", "113", "113", "0.1296", "missense", "0.0", "benign", "1.0", "tolerated", "0", "", "", "", "", "", "protein_xref_gnomad", "rs35091611", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "115", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs375689687", "", "", "", "", "19q13.2", "19", "41709959A>", "T", "null", "N", "I", "115", "115", "", "missense", "0.972", "probably damaging", "0.05", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs375689687", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->IDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "115", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs375689687", "", "", "", "", "19q13.2", "19", "41709959A>", "T", "null", "N", "I", "115", "115", "", "missense", "0.972", "probably damaging", "0.05", "tolerated", "0", "", "", "", "", "", "protein_xref_esp", "rs375689687", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->IDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "115", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs375689687", "", "", "", "", "19q13.2", "19", "41709959A>", "T", "null", "N", "I", "115", "115", "", "missense", "0.972", "probably damaging", "0.05", "tolerated", "0", "", "", "", "", "", "protein_xref_exac", "rs375689687", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->IDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "115", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs375689687", "", "", "", "", "19q13.2", "19", "41709959A>", "T", "null", "N", "I", "115", "115", "", "missense", "0.972", "probably damaging", "0.05", "tolerated", "0", "", "", "", "", "", "protein_xref_topmed", "rs375689687", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->IDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "115", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs375689687", "", "", "", "", "19q13.2", "19", "41709959A>", "T", "null", "N", "I", "115", "115", "", "missense", "0.972", "probably damaging", "0.05", "tolerated", "0", "", "", "", "", "", "protein_xref_gnomad", "rs375689687", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->IDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "115", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs375689687", "", "", "", "", "19q13.2", "19", "41709959A>", "G", "null", "N", "S", "115", "115", "", "missense", "0.216", "benign", "0.22", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs375689687", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->SDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "115", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs375689687", "", "", "", "", "19q13.2", "19", "41709959A>", "G", "null", "N", "S", "115", "115", "", "missense", "0.216", "benign", "0.22", "tolerated", "0", "", "", "", "", "", "protein_xref_esp", "rs375689687", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->SDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "115", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs375689687", "", "", "", "", "19q13.2", "19", "41709959A>", "G", "null", "N", "S", "115", "115", "", "missense", "0.216", "benign", "0.22", "tolerated", "0", "", "", "", "", "", "protein_xref_exac", "rs375689687", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->SDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "115", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs375689687", "", "", "", "", "19q13.2", "19", "41709959A>", "G", "null", "N", "S", "115", "115", "", "missense", "0.216", "benign", "0.22", "tolerated", "0", "", "", "", "", "", "protein_xref_topmed", "rs375689687", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->SDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "115", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs375689687", "", "", "", "", "19q13.2", "19", "41709959A>", "G", "null", "N", "S", "115", "115", "", "missense", "0.216", "benign", "0.22", "tolerated", "0", "", "", "", "", "", "protein_xref_gnomad", "rs375689687", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->SDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "117", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1480379979", "", "", "", "", "19q13.2", "19", "41709965C>", "A", "null", "T", "K", "117", "117", "", "missense", "0.408", "benign", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs1480379979", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDK).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "117", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1480379979", "", "", "", "", "19q13.2", "19", "41709965C>", "A", "null", "T", "K", "117", "117", "", "missense", "0.408", "benign", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_topmed", "rs1480379979", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDK).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "117", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1480379979", "", "", "", "", "19q13.2", "19", "41709965C>", "A", "null", "T", "K", "117", "117", "", "missense", "0.408", "benign", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_gnomad", "rs1480379979", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDK).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "154", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781845608", "", "", "", "", "19q13.2", "19", "41715006T>", "G", "null", "S", "A", "154", "154", "", "missense", "0.91", "probably damaging", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs781845608", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNA).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "154", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781845608", "", "", "", "", "19q13.2", "19", "41715006T>", "G", "null", "S", "A", "154", "154", "", "missense", "0.91", "probably damaging", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_exac", "rs781845608", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNA).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "154", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781845608", "", "", "", "", "19q13.2", "19", "41715006T>", "G", "null", "S", "A", "154", "154", "", "missense", "0.91", "probably damaging", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_topmed", "rs781845608", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNA).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "154", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781845608", "", "", "", "", "19q13.2", "19", "41715006T>", "G", "null", "S", "A", "154", "154", "", "missense", "0.91", "probably damaging", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_gnomad", "rs781845608", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNA).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "182", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1555814658", "", "", "", "", "19q13.2", "19", "41715090A>", "G", "null", "N", "D", "182", "182", "", "missense", "0.164", "benign", "0.08", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs1555814658", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->DQS).", "glycancount:8, pmidcount:0" ], [ "P06731-1", "182", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1555814658", "", "", "", "", "19q13.2", "19", "41715090A>", "G", "null", "N", "D", "182", "182", "", "missense", "0.164", "benign", "0.08", "tolerated", "0", "", "", "", "", "", "protein_xref_gnomad", "rs1555814658", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->DQS).", "glycancount:8, pmidcount:0" ], [ "P06731-1", "182", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1555814661", "", "", "", "", "19q13.2", "19", "41715091A>", "G", "null", "N", "S", "182", "182", "", "missense", "0.32", "benign", "0.46", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs1555814661", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->SQS).", "glycancount:8, pmidcount:0" ], [ "P06731-1", "182", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1555814661", "", "", "", "", "19q13.2", "19", "41715091A>", "G", "null", "N", "S", "182", "182", "", "missense", "0.32", "benign", "0.46", "tolerated", "0", "", "", "", "", "", "protein_xref_gnomad", "rs1555814661", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->SQS).", "glycancount:8, pmidcount:0" ], [ "P06731-1", "197", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781785530", "", "", "", "", "19q13.2", "19", "41715137C>", "A", "null", "N", "K", "197", "197", "", "missense", "0.854", "possibly damaging", "0.04", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs781785530", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).", "glycancount:5, pmidcount:4" ], [ "P06731-1", "197", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781785530", "", "", "", "", "19q13.2", "19", "41715137C>", "A", "null", "N", "K", "197", "197", "", "missense", "0.854", "possibly damaging", "0.04", "deleterious", "0", "", "", "", "", "", "protein_xref_exac", "rs781785530", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).", "glycancount:5, pmidcount:4" ], [ "P06731-1", "197", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781785530", "", "", "", "", "19q13.2", "19", "41715137C>", "A", "null", "N", "K", "197", "197", "", "missense", "0.854", "possibly damaging", "0.04", "deleterious", "0", "", "", "", "", "", "protein_xref_gnomad", "rs781785530", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).", "glycancount:5, pmidcount:4" ], [ "P06731-1", "206", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782198510", "", "", "", "", "19q13.2", "19", "41715163C>", "T", "null", "T", "I", "206", "206", "", "missense", "0.991", "probably damaging", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs782198510", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVI).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "206", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782198510", "", "", "", "", "19q13.2", "19", "41715163C>", "T", "null", "T", "I", "206", "206", "", "missense", "0.991", "probably damaging", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_exac", "rs782198510", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVI).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "206", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782198510", "", "", "", "", "19q13.2", "19", "41715163C>", "T", "null", "T", "I", "206", "206", "", "missense", "0.991", "probably damaging", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_topmed", "rs782198510", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVI).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "206", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782198510", "", "", "", "", "19q13.2", "19", "41715163C>", "T", "null", "T", "I", "206", "206", "", "missense", "0.991", "probably damaging", "0.02", "deleterious", "0", "", "", "", "", "", "protein_xref_gnomad", "rs782198510", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVI).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "208", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1419342024", "", "", "", "", "19q13.2", "19", "41715169A>", "T", "null", "N", "I", "208", "208", "", "missense", "0.994", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs1419342024", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->IDT).", "glycancount:3, pmidcount:2" ], [ "P06731-1", "208", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1419342024", "", "", "", "", "19q13.2", "19", "41715169A>", "T", "null", "N", "I", "208", "208", "", "missense", "0.994", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_topmed", "rs1419342024", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->IDT).", "glycancount:3, pmidcount:2" ], [ "P06731-1", "210", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs17853315", "", "", "", "", "19q13.2", "19", "41715174A>", "G", "null", "T", "A", "210", "210", "", "missense", "0.051", "benign", "0.16", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs17853315", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDA).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "210", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs17853315", "", "", "", "", "19q13.2", "19", "41715174A>", "G", "null", "T", "A", "210", "210", "", "missense", "0.051", "benign", "0.16", "tolerated", "0", "", "", "", "", "", "protein_xref_topmed", "rs17853315", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDA).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "256", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs149409426", "", "", "", "", "19q13.2", "19", "41715713A>", "G", "null", "N", "S", "256", "256", "", "missense", "0.007", "benign", "0.97", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs149409426", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->SLS); n-glyco-sequon-gain (NLN->NLS).", "glycancount:4, pmidcount:0" ], [ "P06731-1", "256", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs149409426", "", "", "", "", "19q13.2", "19", "41715713A>", "G", "null", "N", "S", "256", "256", "", "missense", "0.007", "benign", "0.97", "tolerated", "0", "", "", "", "", "", "protein_xref_esp", "rs149409426", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->SLS); n-glyco-sequon-gain (NLN->NLS).", "glycancount:4, pmidcount:0" ], [ "P06731-1", "256", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs149409426", "", "", "", "", "19q13.2", "19", "41715713A>", "C", "null", "N", "T", "256", "256", "", "missense", "0.015", "benign", "0.24", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs149409426", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->TLS); n-glyco-sequon-gain (NLN->NLT).", "glycancount:4, pmidcount:0" ], [ "P06731-1", "256", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs149409426", "", "", "", "", "19q13.2", "19", "41715713A>", "C", "null", "N", "T", "256", "256", "", "missense", "0.015", "benign", "0.24", "tolerated", "0", "", "", "", "", "", "protein_xref_esp", "rs149409426", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->TLS); n-glyco-sequon-gain (NLN->NLT).", "glycancount:4, pmidcount:0" ], [ "P06731-1", "256", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs200945684", "", "", "", "", "19q13.2", "19", "41715712A>", "T", "null", "N", "Y", "256", "256", "0.000599", "missense", "0.693", "possibly damaging", "0.08", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs200945684", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->YLS).", "glycancount:4, pmidcount:0" ], [ "P06731-1", "256", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs200945684", "", "", "", "", "19q13.2", "19", "41715712A>", "T", "null", "N", "Y", "256", "256", "0.000599", "missense", "0.693", "possibly damaging", "0.08", "tolerated", "0", "", "", "", "", "", "protein_xref_1000genomes", "rs200945684", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->YLS).", "glycancount:4, pmidcount:0" ], [ "P06731-1", "256", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs200945684", "", "", "", "", "19q13.2", "19", "41715712A>", "T", "null", "N", "Y", "256", "256", "0.000599", "missense", "0.693", "possibly damaging", "0.08", "tolerated", "0", "", "", "", "", "", "protein_xref_esp", "rs200945684", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->YLS).", "glycancount:4, pmidcount:0" ], [ "P06731-1", "256", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs200945684", "", "", "", "", "19q13.2", "19", "41715712A>", "T", "null", "N", "Y", "256", "256", "0.000599", "missense", "0.693", "possibly damaging", "0.08", "tolerated", "0", "", "", "", "", "", "protein_xref_exac", "rs200945684", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->YLS).", "glycancount:4, pmidcount:0" ], [ "P06731-1", "256", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs200945684", "", "", "", "", "19q13.2", "19", "41715712A>", "T", "null", "N", "Y", "256", "256", "0.000599", "missense", "0.693", "possibly damaging", "0.08", "tolerated", "0", "", "", "", "", "", "protein_xref_topmed", "rs200945684", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->YLS).", "glycancount:4, pmidcount:0" ], [ "P06731-1", "256", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs200945684", "", "", "", "", "19q13.2", "19", "41715712A>", "T", "null", "N", "Y", "256", "256", "0.000599", "missense", "0.693", "possibly damaging", "0.08", "tolerated", "0", "", "", "", "", "", "protein_xref_gnomad", "rs200945684", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->YLS).", "glycancount:4, pmidcount:0" ], [ "P06731-1", "258", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1600462368", "", "", "", "", "19q13.2", "19", "41715718T>", "C", "null", "S", "P", "258", "258", "", "missense", "0.7", "possibly damaging", "0.01", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs1600462368", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLP).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "258", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1600462368", "", "", "", "", "19q13.2", "19", "41715718T>", "C", "null", "S", "P", "258", "258", "", "missense", "0.7", "possibly damaging", "0.01", "deleterious", "0", "", "", "", "", "", "protein_xref_ensembl", "rs1600462368", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLP).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "274", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782355979", "", "", "", "", "19q13.2", "19", "41715767A>", "G", "null", "N", "S", "274", "274", "", "missense", "0.094", "benign", "0.12", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs782355979", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "274", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782355979", "", "", "", "", "19q13.2", "19", "41715767A>", "G", "null", "N", "S", "274", "274", "", "missense", "0.094", "benign", "0.12", "tolerated", "0", "", "", "", "", "", "protein_xref_exac", "rs782355979", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "274", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782355979", "", "", "", "", "19q13.2", "19", "41715767A>", "G", "null", "N", "S", "274", "274", "", "missense", "0.094", "benign", "0.12", "tolerated", "0", "", "", "", "", "", "protein_xref_gnomad", "rs782355979", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "274", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782242021", "", "", "", "", "19q13.2", "19", "41715766A>", "T", "null", "N", "Y", "274", "274", "", "missense", "0.923", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs782242021", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "274", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782242021", "", "", "", "", "19q13.2", "19", "41715766A>", "T", "null", "N", "Y", "274", "274", "", "missense", "0.923", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_exac", "rs782242021", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "274", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs782242021", "", "", "", "", "19q13.2", "19", "41715766A>", "T", "null", "N", "Y", "274", "274", "", "missense", "0.923", "probably damaging", "0.0", "deleterious", "0", "", "", "", "", "", "protein_xref_gnomad", "rs782242021", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "276", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1555814932", "", "", "", "", "19q13.2", "19", "41715773C>", "A", "null", "T", "N", "276", "276", "", "missense", "0.001", "benign", "0.2", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs1555814932", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGN).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "276", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs1555814932", "", "", "", "", "19q13.2", "19", "41715773C>", "A", "null", "T", "N", "276", "276", "", "missense", "0.001", "benign", "0.2", "tolerated", "0", "", "", "", "", "", "protein_xref_gnomad", "rs1555814932", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGN).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "288", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs201961466", "", "", "", "", "19q13.2", "19", "41715809A>", "G", "null", "N", "S", "288", "288", "", "missense", "0.028", "benign", "0.07", "tolerated", "0", "", "", "", "", "", "protein_xref_dbsnp", "rs201961466", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "glycancount:5, pmidcount:0" ], [ "P06731-1", "288", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs201961466", "", "", "", "", "19q13.2", "19", "41715809A>", "G", "null", "N", "S", "288", "288", "", "missense", "0.028", "benign", "0.07", "tolerated", "0", "", "", "", "", "", "protein_xref_exac", "rs201961466", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "glycancount:5, pmidcount:0" ], [ "P06731-1", "288", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs201961466", "", "", "", "", "19q13.2", "19", "41715809A>", "G", "null", "N", "S", "288", "288", "", "missense", "0.028", "benign", "0.07", "tolerated", "0", "", "", "", "", "", "protein_xref_topmed", "rs201961466", "", "", "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "glycancount:5, pmidcount:0" ] ] }, "readme": "Name\n - Human Germline Mutation\n\nVersion\n - 1.11.2\n\nCreated on\n - 2020-04-03T17:17:42.572968\n\nModified on\n - 2020-04-03T17:41:28.937559\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], Karina Martinez [karinamartinez@gwu.edu], Amanda Bell [amandab2140@gwu.edu], Jonathon Keeney [keeneyjg@gwu.edu], Millicent Quartey [mquartey@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 Germline Mutation dataset contains human [taxid:9606] germline mutation data from EBI Variant Data API. Only nonsynonymous single-nucleotide variations (nsSNVs) germline 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 - germline mutations\n - dbSNP\n - disease\n - ClinVar\n\n Pipeline Steps\n - Step-1: The script extracts the gernline (somatic_staus = 0) 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: human_protein_masterlist.csv\n URI: https://data.glygen.org//ln2data/releases/data/v-1.11.2/reviewed/human_protein_masterlist.csv\n Name: dbSNP-homo-sapiens.tsv\n URI: https://data.glygen.org//ln2downloads/ebi/2021_03/dbSNP-homo-sapiens.tsv\n Output Subdomain\n Name: human_protein_mutation_germline.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.12.1/reviewed/human_protein_mutation_germline.csv\n Name: human_protein_mutation_germline.stat.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.12.1/reviewed/human_protein_mutation_germline.stat.csv", "downloadurl": "/ln2data/releases/data/v-1.12.1/reviewed/human_protein_mutation_germline.csv" }