{ "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": [ [ "P06731-1...", "173..." ], [ "P06731-1...", "173..." ] ], "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", "173", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs368142383", "cosmic curated", "[Cosmic]: breast", "", "pubmed:22722201,cosmic_study:385", "19q13.2", "19", "41715063G>", "A", "null", "D", "N", "173", "173", "", "missense", "0.015", "benign", "1.0", "tolerated", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs368142383", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "173", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs368142383", "cosmic curated", "[Cosmic]: breast", "", "pubmed:22722201,cosmic_study:385", "19q13.2", "19", "41715063G>", "A", "null", "D", "N", "173", "173", "", "missense", "0.015", "benign", "1.0", "tolerated", "1", "", "", "", "", "", "protein_xref_topmed", "rs368142383", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "173", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs368142383", "cosmic curated", "[Cosmic]: breast", "", "pubmed:22722201,cosmic_study:385", "19q13.2", "19", "41715063G>", "A", "null", "D", "N", "173", "173", "", "missense", "0.015", "benign", "1.0", "tolerated", "1", "", "", "", "", "", "protein_xref_pubmed", "22722201", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "184", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs147510914", "cosmic curated", "[Cosmic]: skin", "", "pubmed:21499247,cosmic_study:348", "19q13.2", "19", "41715097G>", "A", "null", "S", "N", "184", "184", "", "missense", "0.709", "possibly damaging", "0.08", "tolerated", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs147510914", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->NQN).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "184", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs147510914", "cosmic curated", "[Cosmic]: skin", "", "pubmed:21499247,cosmic_study:348", "19q13.2", "19", "41715097G>", "A", "null", "S", "N", "184", "184", "", "missense", "0.709", "possibly damaging", "0.08", "tolerated", "1", "", "", "", "", "", "protein_xref_topmed", "rs147510914", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->NQN).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "184", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs147510914", "cosmic curated", "[Cosmic]: skin", "", "pubmed:21499247,cosmic_study:348", "19q13.2", "19", "41715097G>", "A", "null", "S", "N", "184", "184", "", "missense", "0.709", "possibly damaging", "0.08", "tolerated", "1", "", "", "", "", "", "protein_xref_pubmed", "21499247", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->NQN).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "292", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781788150", "cosmic curated", "[Cosmic]: large_intestine", "", "pubmed:22895193,cosmic_study:452", "19q13.2", "19", "41715821A>", "G", "null", "N", "S", "292", "292", "", "missense", "0.058", "benign", "0.23", "tolerated", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs781788150", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "292", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781788150", "cosmic curated", "[Cosmic]: large_intestine", "", "pubmed:22895193,cosmic_study:452", "19q13.2", "19", "41715821A>", "G", "null", "N", "S", "292", "292", "", "missense", "0.058", "benign", "0.23", "tolerated", "1", "", "", "", "", "", "protein_xref_exac", "rs781788150", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "292", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781788150", "cosmic curated", "[Cosmic]: large_intestine", "", "pubmed:22895193,cosmic_study:452", "19q13.2", "19", "41715821A>", "G", "null", "N", "S", "292", "292", "", "missense", "0.058", "benign", "0.23", "tolerated", "1", "", "", "", "", "", "protein_xref_topmed", "rs781788150", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "292", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781788150", "cosmic curated", "[Cosmic]: large_intestine", "", "pubmed:22895193,cosmic_study:452", "19q13.2", "19", "41715821A>", "G", "null", "N", "S", "292", "292", "", "missense", "0.058", "benign", "0.23", "tolerated", "1", "", "", "", "", "", "protein_xref_gnomad", "rs781788150", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "292", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs781788150", "cosmic curated", "[Cosmic]: large_intestine", "", "pubmed:22895193,cosmic_study:452", "19q13.2", "19", "41715821A>", "G", "null", "N", "S", "292", "292", "", "missense", "0.058", "benign", "0.23", "tolerated", "1", "", "", "", "", "", "protein_xref_pubmed", "22895193", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "377", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs199819373", "cosmic curated", "[Cosmic]: kidney", "", "cosmic_study:416", "19q13.2", "19", "41717626C>", "A", "null", "T", "N", "377", "377", "", "missense", "0.537", "possibly damaging", "0.04", "deleterious", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs199819373", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT); n-glyco-sequon-loss (NRT->NRN).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "377", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs199819373", "cosmic curated", "[Cosmic]: kidney", "", "cosmic_study:416", "19q13.2", "19", "41717626C>", "A", "null", "T", "N", "377", "377", "", "missense", "0.537", "possibly damaging", "0.04", "deleterious", "1", "", "", "", "", "", "protein_xref_exac", "rs199819373", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT); n-glyco-sequon-loss (NRT->NRN).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "377", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs199819373", "cosmic curated", "[Cosmic]: kidney", "", "cosmic_study:416", "19q13.2", "19", "41717626C>", "A", "null", "T", "N", "377", "377", "", "missense", "0.537", "possibly damaging", "0.04", "deleterious", "1", "", "", "", "", "", "protein_xref_topmed", "rs199819373", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT); n-glyco-sequon-loss (NRT->NRN).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "377", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs199819373", "cosmic curated", "[Cosmic]: kidney", "", "cosmic_study:416", "19q13.2", "19", "41717626C>", "A", "null", "T", "N", "377", "377", "", "missense", "0.537", "possibly damaging", "0.04", "deleterious", "1", "", "", "", "", "", "protein_xref_gnomad", "rs199819373", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT); n-glyco-sequon-loss (NRT->NRN).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "466", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs140159293", "cosmic curated", "[Cosmic]: skin", "", "pubmed:21499247,cosmic_study:348", "19q13.2", "19", "41718287A>", "G", "null", "N", "S", "466", "466", "", "missense", "0.969", "probably damaging", "0.05", "deleterious", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs140159293", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "466", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs140159293", "cosmic curated", "[Cosmic]: skin", "", "pubmed:21499247,cosmic_study:348", "19q13.2", "19", "41718287A>", "G", "null", "N", "S", "466", "466", "", "missense", "0.969", "probably damaging", "0.05", "deleterious", "1", "", "", "", "", "", "protein_xref_exac", "rs140159293", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "466", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs140159293", "cosmic curated", "[Cosmic]: skin", "", "pubmed:21499247,cosmic_study:348", "19q13.2", "19", "41718287A>", "G", "null", "N", "S", "466", "466", "", "missense", "0.969", "probably damaging", "0.05", "deleterious", "1", "", "", "", "", "", "protein_xref_gnomad", "rs140159293", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "466", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs140159293", "cosmic curated", "[Cosmic]: skin", "", "pubmed:21499247,cosmic_study:348", "19q13.2", "19", "41718287A>", "G", "null", "N", "S", "466", "466", "", "missense", "0.969", "probably damaging", "0.05", "deleterious", "1", "", "", "", "", "", "protein_xref_pubmed", "21499247", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "2.0E-4", "missense", "0.003", "benign", "1.0", "tolerated", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs138799075", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "2.0E-4", "missense", "0.003", "benign", "1.0", "tolerated", "1", "", "", "", "", "", "protein_xref_1000genomes", "rs138799075", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "2.0E-4", "missense", "0.003", "benign", "1.0", "tolerated", "1", "", "", "", "", "", "protein_xref_esp", "rs138799075", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "2.0E-4", "missense", "0.003", "benign", "1.0", "tolerated", "1", "", "", "", "", "", "protein_xref_exac", "rs138799075", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "2.0E-4", "missense", "0.003", "benign", "1.0", "tolerated", "1", "", "", "", "", "", "protein_xref_nci-tcga", "rs138799075", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "2.0E-4", "missense", "0.003", "benign", "1.0", "tolerated", "1", "", "", "", "", "", "protein_xref_topmed", "rs138799075", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDT).", "glycancount:0, pmidcount:0" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "2.0E-4", "missense", "0.003", "benign", "1.0", "tolerated", "1", "", "", "", "", "", "protein_xref_gnomad", "rs138799075", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDT).", "glycancount:0, pmidcount:0" ], [ "P82279-1", "437", "CRB1", "Protein crumbs homolog 1", "rs727503889", "cosmic curated", "[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung", "", "cosmic_study:418", "1q31.3", "1", "197435029G>", "A", "null", "D", "N", "437", "437", "", "missense", "0.103", "benign", "0.04", "deleterious", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs727503889", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DCS->NCS).", "glycancount:0, pmidcount:0" ], [ "P82279-1", "437", "CRB1", "Protein crumbs homolog 1", "rs727503889", "cosmic curated", "[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [Cosmic]: lung", "", "cosmic_study:418", "1q31.3", "1", "197435029G>", "A", "null", "D", "N", "437", "437", "", "missense", "0.103", "benign", "0.04", "deleterious", "1", "", "", "", "", "", "protein_xref_gnomad", "rs727503889", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DCS->NCS).", "glycancount:0, pmidcount:0" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B member 1", "rs779769226", "cosmic curated", "[Cosmic]: pancreas", "", "pubmed:24293293,cosmic_study:529", "19q13.42", "19", "54632118T>", "A", "null", "I", "N", "181", "181", "", "missense", "0.752", "possibly damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs779769226", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "glycancount:0, pmidcount:0" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B member 1", "rs779769226", "cosmic curated", "[Cosmic]: pancreas", "", "pubmed:24293293,cosmic_study:529", "19q13.42", "19", "54632118T>", "A", "null", "I", "N", "181", "181", "", "missense", "0.752", "possibly damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_exac", "rs779769226", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "glycancount:0, pmidcount:0" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B member 1", "rs779769226", "cosmic curated", "[Cosmic]: pancreas", "", "pubmed:24293293,cosmic_study:529", "19q13.42", "19", "54632118T>", "A", "null", "I", "N", "181", "181", "", "missense", "0.752", "possibly damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_topmed", "rs779769226", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "glycancount:0, pmidcount:0" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B member 1", "rs779769226", "cosmic curated", "[Cosmic]: pancreas", "", "pubmed:24293293,cosmic_study:529", "19q13.42", "19", "54632118T>", "A", "null", "I", "N", "181", "181", "", "missense", "0.752", "possibly damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_gnomad", "rs779769226", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "glycancount:0, pmidcount:0" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B member 1", "rs779769226", "cosmic curated", "[Cosmic]: pancreas", "", "pubmed:24293293,cosmic_study:529", "19q13.42", "19", "54632118T>", "A", "null", "I", "N", "181", "181", "", "missense", "0.752", "possibly damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_pubmed", "24293293", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "glycancount:0, pmidcount:0" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B member 1", "rs779769226", "cosmic curated", "[Cosmic]: pancreas", "", "pubmed:24293293,cosmic_study:529", "19q13.42", "19", "54632118T>", "A", "null", "I", "N", "181", "181", "", "missense", "0.571", "possibly damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs779769226", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "glycancount:0, pmidcount:0" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B member 1", "rs779769226", "cosmic curated", "[Cosmic]: pancreas", "", "pubmed:24293293,cosmic_study:529", "19q13.42", "19", "54632118T>", "A", "null", "I", "N", "181", "181", "", "missense", "0.571", "possibly damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_exac", "rs779769226", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "glycancount:0, pmidcount:0" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B member 1", "rs779769226", "cosmic curated", "[Cosmic]: pancreas", "", "pubmed:24293293,cosmic_study:529", "19q13.42", "19", "54632118T>", "A", "null", "I", "N", "181", "181", "", "missense", "0.571", "possibly damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_topmed", "rs779769226", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "glycancount:0, pmidcount:0" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B member 1", "rs779769226", "cosmic curated", "[Cosmic]: pancreas", "", "pubmed:24293293,cosmic_study:529", "19q13.42", "19", "54632118T>", "A", "null", "I", "N", "181", "181", "", "missense", "0.571", "possibly damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_gnomad", "rs779769226", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "glycancount:0, pmidcount:0" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B member 1", "rs779769226", "cosmic curated", "[Cosmic]: pancreas", "", "pubmed:24293293,cosmic_study:529", "19q13.42", "19", "54632118T>", "A", "null", "I", "N", "181", "181", "", "missense", "0.571", "possibly damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_pubmed", "24293293", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "glycancount:0, pmidcount:0" ], [ "Q12913-1", "772", "PTPRJ", "Protein-tyrosine-phosphatase", "rs756647149", "cosmic curated", "[Cosmic]: stomach", "", "pubmed:22037554,cosmic_study:479", "11p11.2", "11", "48139647A>", "G", "null", "N", "D", "772", "772", "", "missense", "0.059", "benign", "0.13", "tolerated", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs756647149", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->DGT).", "glycancount:0, pmidcount:0" ], [ "Q12913-1", "772", "PTPRJ", "Protein-tyrosine-phosphatase", "rs756647149", "cosmic curated", "[Cosmic]: stomach", "", "pubmed:22037554,cosmic_study:479", "11p11.2", "11", "48139647A>", "G", "null", "N", "D", "772", "772", "", "missense", "0.059", "benign", "0.13", "tolerated", "1", "", "", "", "", "", "protein_xref_exac", "rs756647149", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->DGT).", "glycancount:0, pmidcount:0" ], [ "Q12913-1", "772", "PTPRJ", "Protein-tyrosine-phosphatase", "rs756647149", "cosmic curated", "[Cosmic]: stomach", "", "pubmed:22037554,cosmic_study:479", "11p11.2", "11", "48139647A>", "G", "null", "N", "D", "772", "772", "", "missense", "0.059", "benign", "0.13", "tolerated", "1", "", "", "", "", "", "protein_xref_gnomad", "rs756647149", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->DGT).", "glycancount:0, pmidcount:0" ], [ "Q12913-1", "772", "PTPRJ", "Protein-tyrosine-phosphatase", "rs756647149", "cosmic curated", "[Cosmic]: stomach", "", "pubmed:22037554,cosmic_study:479", "11p11.2", "11", "48139647A>", "G", "null", "N", "D", "772", "772", "", "missense", "0.059", "benign", "0.13", "tolerated", "1", "", "", "", "", "", "protein_xref_pubmed", "22037554", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->DGT).", "glycancount:0, pmidcount:0" ], [ "O43194-1", "103", "GPR39", "G-protein-coupled receptor 39", "rs1242192922", "cosmic curated", "[Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "pubmed:23415222,cosmic_study:465", "2q21.2", "2", "132417350G>", "A", "null", "S", "N", "103", "103", "", "missense", "0.013", "benign", "0.34", "tolerated", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs1242192922", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SYT->NYT).", "glycancount:0, pmidcount:0" ], [ "O43194-1", "103", "GPR39", "G-protein-coupled receptor 39", "rs1242192922", "cosmic curated", "[Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "pubmed:23415222,cosmic_study:465", "2q21.2", "2", "132417350G>", "A", "null", "S", "N", "103", "103", "", "missense", "0.013", "benign", "0.34", "tolerated", "1", "", "", "", "", "", "protein_xref_topmed", "rs1242192922", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SYT->NYT).", "glycancount:0, pmidcount:0" ], [ "O43194-1", "103", "GPR39", "G-protein-coupled receptor 39", "rs1242192922", "cosmic curated", "[Cosmic]: haematopoietic_and_lymphoid_tissue, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "pubmed:23415222,cosmic_study:465", "2q21.2", "2", "132417350G>", "A", "null", "S", "N", "103", "103", "", "missense", "0.013", "benign", "0.34", "tolerated", "1", "", "", "", "", "", "protein_xref_pubmed", "23415222", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SYT->NYT).", "glycancount:0, pmidcount:0" ], [ "P25445-1", "118", "FAS", "Tumor necrosis factor receptor superfamily member 6", "rs121913083", "", "[ClinVar]: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC, [UniProt]: squamous cell carcinoma; burn-scar related; somatic mutation", "pubmed:10620127", "pubmed:10620127", "10q23.31", "10", "89008907A>", "G", "null", "N", "S", "118", "118", "", "missense", "0.756", "possibly damaging", "0.05", "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-sequon-loss (NCT->SCT).", "glycancount:0, pmidcount:2" ], [ "P25445-1", "118", "FAS", "Tumor necrosis factor receptor superfamily member 6", "rs121913083", "", "[ClinVar]: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC, [UniProt]: squamous cell carcinoma; burn-scar related; somatic mutation", "pubmed:10620127", "pubmed:10620127", "10q23.31", "10", "89008907A>", "G", "null", "N", "S", "118", "118", "", "missense", "0.756", "possibly damaging", "0.05", "tolerated", "1", "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC", "", "", "", "ClinVar:RCV000017975", "protein_xref_ensembl", "rs121913083", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->SCT).", "glycancount:0, pmidcount:2" ], [ "P25445-1", "118", "FAS", "Tumor necrosis factor receptor superfamily member 6", "rs121913083", "", "[ClinVar]: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC, [UniProt]: squamous cell carcinoma; burn-scar related; somatic mutation", "pubmed:10620127", "pubmed:10620127", "10q23.31", "10", "89008907A>", "G", "null", "N", "S", "118", "118", "", "missense", "0.756", "possibly damaging", "0.05", "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-sequon-loss (NCT->SCT).", "glycancount:0, pmidcount:2" ], [ "P25445-1", "118", "FAS", "Tumor necrosis factor receptor superfamily member 6", "rs121913083", "", "[ClinVar]: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC, [UniProt]: squamous cell carcinoma; burn-scar related; somatic mutation", "pubmed:10620127", "pubmed:10620127", "10q23.31", "10", "89008907A>", "G", "null", "N", "S", "118", "118", "", "missense", "0.756", "possibly damaging", "0.05", "tolerated", "1", "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC", "", "", "", "ClinVar:RCV000017975", "protein_xref_pubmed", "10620127", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->SCT).", "glycancount:0, pmidcount:2" ], [ "Q9Y2I8-1", "178", "WDR37", "WD repeat-containing protein 37", "rs1433377878", "NCI-TCGA Cosmic", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:375", "10p15.3", "10", "1084538G>", "A", "null", "D", "N", "178", "178", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs1433377878", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DHT->NHT).", "glycancount:0, pmidcount:0" ], [ "Q9Y2I8-1", "178", "WDR37", "WD repeat-containing protein 37", "rs1433377878", "NCI-TCGA Cosmic", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:375", "10p15.3", "10", "1084538G>", "A", "null", "D", "N", "178", "178", "", "missense", "1.0", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_gnomad", "rs1433377878", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DHT->NHT).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "352", "SDK1", "Protein sidekick-1", "rs754503468", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:375", "7p22.2", "7", "3951825C>", "T", "null", "P", "L", "352", "352", "", "missense", "1.0", "probably damaging", "0.01", "deleterious", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs754503468", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "352", "SDK1", "Protein sidekick-1", "rs754503468", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:375", "7p22.2", "7", "3951825C>", "T", "null", "P", "L", "352", "352", "", "missense", "1.0", "probably damaging", "0.01", "deleterious", "1", "", "", "", "", "", "protein_xref_exac", "rs754503468", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "352", "SDK1", "Protein sidekick-1", "rs754503468", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:375", "7p22.2", "7", "3951825C>", "T", "null", "P", "L", "352", "352", "", "missense", "1.0", "probably damaging", "0.01", "deleterious", "1", "", "", "", "", "", "protein_xref_nci-tcga", "rs754503468", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "352", "SDK1", "Protein sidekick-1", "rs754503468", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:375", "7p22.2", "7", "3951825C>", "T", "null", "P", "L", "352", "352", "", "missense", "1.0", "probably damaging", "0.01", "deleterious", "1", "", "", "", "", "", "protein_xref_topmed", "rs754503468", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "352", "SDK1", "Protein sidekick-1", "rs754503468", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:375", "7p22.2", "7", "3951825C>", "T", "null", "P", "L", "352", "352", "", "missense", "1.0", "probably damaging", "0.01", "deleterious", "1", "", "", "", "", "", "protein_xref_gnomad", "rs754503468", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1026", "SDK1", "Protein sidekick-1", "rs532281867", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact.", "", "pubmed:22877736,cosmic_study:419,cosmic_study:448", "7p22.2", "7", "4077064C>", "T", "null", "T", "M", "1026", "1026", "3.99E-4", "missense", "0.092", "benign", "0.12", "tolerated", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs532281867", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1026", "SDK1", "Protein sidekick-1", "rs532281867", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact.", "", "pubmed:22877736,cosmic_study:419,cosmic_study:448", "7p22.2", "7", "4077064C>", "T", "null", "T", "M", "1026", "1026", "3.99E-4", "missense", "0.092", "benign", "0.12", "tolerated", "1", "", "", "", "", "", "protein_xref_1000genomes", "rs532281867", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1026", "SDK1", "Protein sidekick-1", "rs532281867", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact.", "", "pubmed:22877736,cosmic_study:419,cosmic_study:448", "7p22.2", "7", "4077064C>", "T", "null", "T", "M", "1026", "1026", "3.99E-4", "missense", "0.092", "benign", "0.12", "tolerated", "1", "", "", "", "", "", "protein_xref_exac", "rs532281867", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1026", "SDK1", "Protein sidekick-1", "rs532281867", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact.", "", "pubmed:22877736,cosmic_study:419,cosmic_study:448", "7p22.2", "7", "4077064C>", "T", "null", "T", "M", "1026", "1026", "3.99E-4", "missense", "0.092", "benign", "0.12", "tolerated", "1", "", "", "", "", "", "protein_xref_nci-tcga", "rs532281867", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1026", "SDK1", "Protein sidekick-1", "rs532281867", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact.", "", "pubmed:22877736,cosmic_study:419,cosmic_study:448", "7p22.2", "7", "4077064C>", "T", "null", "T", "M", "1026", "1026", "3.99E-4", "missense", "0.092", "benign", "0.12", "tolerated", "1", "", "", "", "", "", "protein_xref_topmed", "rs532281867", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1026", "SDK1", "Protein sidekick-1", "rs532281867", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact.", "", "pubmed:22877736,cosmic_study:419,cosmic_study:448", "7p22.2", "7", "4077064C>", "T", "null", "T", "M", "1026", "1026", "3.99E-4", "missense", "0.092", "benign", "0.12", "tolerated", "1", "", "", "", "", "", "protein_xref_gnomad", "rs532281867", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1026", "SDK1", "Protein sidekick-1", "rs532281867", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: oesophagus, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [NCI-TCGA]: Variant assessed as Somatic; 1 impact.", "", "pubmed:22877736,cosmic_study:419,cosmic_study:448", "7p22.2", "7", "4077064C>", "T", "null", "T", "M", "1026", "1026", "3.99E-4", "missense", "0.092", "benign", "0.12", "tolerated", "1", "", "", "", "", "", "protein_xref_pubmed", "22877736", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1335", "SDK1", "Protein sidekick-1", "rs140791078", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376", "7p22.2", "7", "4129972C>", "T", "null", "T", "M", "1335", "1335", "", "missense", "0.968", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs140791078", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->NHM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1335", "SDK1", "Protein sidekick-1", "rs140791078", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376", "7p22.2", "7", "4129972C>", "T", "null", "T", "M", "1335", "1335", "", "missense", "0.968", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_esp", "rs140791078", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->NHM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1335", "SDK1", "Protein sidekick-1", "rs140791078", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376", "7p22.2", "7", "4129972C>", "T", "null", "T", "M", "1335", "1335", "", "missense", "0.968", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_exac", "rs140791078", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->NHM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1335", "SDK1", "Protein sidekick-1", "rs140791078", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376", "7p22.2", "7", "4129972C>", "T", "null", "T", "M", "1335", "1335", "", "missense", "0.968", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_nci-tcga", "rs140791078", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->NHM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1335", "SDK1", "Protein sidekick-1", "rs140791078", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376", "7p22.2", "7", "4129972C>", "T", "null", "T", "M", "1335", "1335", "", "missense", "0.968", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_topmed", "rs140791078", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->NHM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1335", "SDK1", "Protein sidekick-1", "rs140791078", "cosmic curated", "[Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376", "7p22.2", "7", "4129972C>", "T", "null", "T", "M", "1335", "1335", "", "missense", "0.968", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_gnomad", "rs140791078", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->NHM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1655", "SDK1", "Protein sidekick-1", "rs1182039953", "cosmic curated", "[Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:414", "7p22.2", "7", "4175802G>", "A", "null", "S", "N", "1655", "1655", "", "missense", "0.64", "possibly damaging", "0.23", "tolerated", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs1182039953", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1655", "SDK1", "Protein sidekick-1", "rs1182039953", "cosmic curated", "[Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:414", "7p22.2", "7", "4175802G>", "A", "null", "S", "N", "1655", "1655", "", "missense", "0.64", "possibly damaging", "0.23", "tolerated", "1", "", "", "", "", "", "protein_xref_topmed", "rs1182039953", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1655", "SDK1", "Protein sidekick-1", "rs1182039953", "cosmic curated", "[Cosmic]: breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:414", "7p22.2", "7", "4175802G>", "A", "null", "S", "N", "1655", "1655", "", "missense", "0.64", "possibly damaging", "0.23", "tolerated", "1", "", "", "", "", "", "protein_xref_gnomad", "rs1182039953", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1750", "SDK1", "Protein sidekick-1", "rs764914315", "cosmic curated", "[Cosmic]: lung", "", "pubmed:22980975,cosmic_study:431", "7p22.2", "7", "4208133C>", "T", "null", "T", "M", "1750", "1750", "", "missense", "0.961", "probably damaging", "0.01", "deleterious", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs764914315", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1750", "SDK1", "Protein sidekick-1", "rs764914315", "cosmic curated", "[Cosmic]: lung", "", "pubmed:22980975,cosmic_study:431", "7p22.2", "7", "4208133C>", "T", "null", "T", "M", "1750", "1750", "", "missense", "0.961", "probably damaging", "0.01", "deleterious", "1", "", "", "", "", "", "protein_xref_exac", "rs764914315", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1750", "SDK1", "Protein sidekick-1", "rs764914315", "cosmic curated", "[Cosmic]: lung", "", "pubmed:22980975,cosmic_study:431", "7p22.2", "7", "4208133C>", "T", "null", "T", "M", "1750", "1750", "", "missense", "0.961", "probably damaging", "0.01", "deleterious", "1", "", "", "", "", "", "protein_xref_topmed", "rs764914315", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1750", "SDK1", "Protein sidekick-1", "rs764914315", "cosmic curated", "[Cosmic]: lung", "", "pubmed:22980975,cosmic_study:431", "7p22.2", "7", "4208133C>", "T", "null", "T", "M", "1750", "1750", "", "missense", "0.961", "probably damaging", "0.01", "deleterious", "1", "", "", "", "", "", "protein_xref_gnomad", "rs764914315", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1750", "SDK1", "Protein sidekick-1", "rs764914315", "cosmic curated", "[Cosmic]: lung", "", "pubmed:22980975,cosmic_study:431", "7p22.2", "7", "4208133C>", "T", "null", "T", "M", "1750", "1750", "", "missense", "0.961", "probably damaging", "0.01", "deleterious", "1", "", "", "", "", "", "protein_xref_pubmed", "22980975", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEM).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1784", "SDK1", "Protein sidekick-1", "rs761076885", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376,cosmic_study:419", "7p22.2", "7", "4208234G>", "A", "null", "A", "T", "1784", "1784", "", "missense", "0.947", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_dbsnp", "rs761076885", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1784", "SDK1", "Protein sidekick-1", "rs761076885", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376,cosmic_study:419", "7p22.2", "7", "4208234G>", "A", "null", "A", "T", "1784", "1784", "", "missense", "0.947", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_exac", "rs761076885", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1784", "SDK1", "Protein sidekick-1", "rs761076885", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376,cosmic_study:419", "7p22.2", "7", "4208234G>", "A", "null", "A", "T", "1784", "1784", "", "missense", "0.947", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_nci-tcga", "rs761076885", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1784", "SDK1", "Protein sidekick-1", "rs761076885", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376,cosmic_study:419", "7p22.2", "7", "4208234G>", "A", "null", "A", "T", "1784", "1784", "", "missense", "0.947", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_topmed", "rs761076885", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "glycancount:0, pmidcount:0" ], [ "Q7Z5N4-1", "1784", "SDK1", "Protein sidekick-1", "rs761076885", "cosmic curated", "[Cosmic]: endometrium, [Cosmic]: large_intestine, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.", "", "cosmic_study:376,cosmic_study:419", "7p22.2", "7", "4208234G>", "A", "null", "A", "T", "1784", "1784", "", "missense", "0.947", "probably damaging", "0.0", "deleterious", "1", "", "", "", "", "", "protein_xref_gnomad", "rs761076885", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "glycancount:0, pmidcount:0" ], [ "P12830-1", "560", "CDH1", "Cadherin-1", "rs746481984", "cosmic curated", "[Cosmic]: breast, [ClinVar]: Hereditary diffuse gastric cancer, [ClinVar]: Hereditary cancer-predisposing syndrome", "", "pubmed:22722201,cosmic_study:385", "16q22.1", "16", "68819393C>", "G", "null", "T", "R", "560", "560", "", "missense", "0.995", "probably damaging", "0.25", "tolerated", "1", "Hereditary cancer-predisposing syndrome", "", "", "", "pubmed:25394175,ClinVar:RCV000492731", "protein_xref_dbsnp", "rs746481984", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSR).", "glycancount:0, pmidcount:0" ], [ "P12830-1", "560", "CDH1", "Cadherin-1", "rs746481984", "cosmic curated", "[Cosmic]: breast, [ClinVar]: Hereditary diffuse gastric cancer, [ClinVar]: Hereditary cancer-predisposing syndrome", "", "pubmed:22722201,cosmic_study:385", "16q22.1", "16", "68819393C>", "G", "null", "T", "R", "560", "560", "", "missense", "0.995", "probably damaging", "0.25", "tolerated", "1", "Hereditary cancer-predisposing syndrome", "", "", "", "pubmed:25394175,ClinVar:RCV000492731", "protein_xref_exac", "rs746481984", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSR).", "glycancount:0, pmidcount:0" ] ] }, "readme": "Name\n - Human Somatic Mutation\n\nVersion\n - 1.8.24\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-1.8.24/source/dbSNP-homo-sapiens.tsv\n Name: human_protein_masterlist.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.8.24/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-1.8.24/reviewed/human_protein_mutation_somatic.csv\n Name: human_protein_mutation_somatic.stat.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.8.24/reviewed/human_protein_mutation_somatic.stat.csv\n\nFields\n Name: \"src_xref_key\"\n Description: \"Source Xref key\"\n Unique Values: \"1\"\n Name: \"xref_id\"\n Description: \"ID of the X-ref\"\n Unique Values: \"119\"\n Name: \"title\"\n Description: \"Title of the published article in the journal\"\n Unique Values: \"119\"\n Name: \"src_xref_id\"\n Description: \"Source X-ref ID\"\n Unique Values: \"120\"\n Name: \"journal_name\"\n Description: \"The name of the journal in which the article is published\"\n Unique Values: \"49\"\n Name: \"authors\"\n Description: \"NA\"\n Unique Values: \"118\"\n Name: \"publication_date\"\n Description: \"Contains the full date on which the issue of the journal was published. Sourced from MEDLINE/PubMed data element(fields) description.\"\n Unique Values: \"117\"\n Name: \"glytoucan_ac\"\n Description: \"Unique accession assigned to the registered glycan structure in GlyTouCan database\"\n Unique Values: \"115\"\n Name: \"xref_key\"\n Description: \"Source key associated to the xref_id\"\n Unique Values: \"1\"", "downloadurl": "/ln2data/releases/data/v-1.8.24/reviewed/human_protein_mutation_somatic.csv" }