{ "bcoid": "GLY_000509", "title": "Human Somatic Mutations LOG and GOG effect", "description": "", "filename": "human_protein_mutation_somatic_glycoeffect.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Somatic Mutations LOG-GOG", "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": "is_known_glycoprotein" }, { "type": "string", "label": "motif_start" }, { "type": "string", "label": "ref_motif" }, { "type": "string", "label": "alt_motif" }, { "type": "string", "label": "effect" } ], [ "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).", "yes", "173", "DAT", "NAT", "n-glyco-sequon-gain" ], [ "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).", "yes", "173", "DAT", "NAT", "n-glyco-sequon-gain" ], [ "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).", "yes", "173", "DAT", "NAT", "n-glyco-sequon-gain" ], [ "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).", "yes", "182", "NQS", "NQN", "n-glyco-sequon-loss" ], [ "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).", "yes", "184", "S", "N", "o-glyco-site-loss" ], [ "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).", "yes", "182", "NQS", "NQN", "n-glyco-sequon-loss" ], [ "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).", "yes", "184", "S", "N", "o-glyco-site-loss" ], [ "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).", "yes", "182", "NQS", "NQN", "n-glyco-sequon-loss" ], [ "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).", "yes", "184", "S", "N", "o-glyco-site-loss" ], [ "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).", "yes", "292", "NNS", "SNS", "n-glyco-sequon-loss" ], [ "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).", "yes", "292", "NNS", "SNS", "n-glyco-sequon-loss" ], [ "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).", "yes", "292", "NNS", "SNS", "n-glyco-sequon-loss" ], [ "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).", "yes", "292", "NNS", "SNS", "n-glyco-sequon-loss" ], [ "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).", "yes", "292", "NNS", "SNS", "n-glyco-sequon-loss" ], [ "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).", "yes", "377", "TLT", "NLT", "n-glyco-sequon-gain" ], [ "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).", "yes", "375", "NRT", "NRN", "n-glyco-sequon-loss" ], [ "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).", "yes", "377", "T", "N", "o-glyco-site-loss" ], [ "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).", "yes", "377", "TLT", "NLT", "n-glyco-sequon-gain" ], [ "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).", "yes", "375", "NRT", "NRN", "n-glyco-sequon-loss" ], [ "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).", "yes", "377", "T", "N", "o-glyco-site-loss" ], [ "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).", "yes", "377", "TLT", "NLT", "n-glyco-sequon-gain" ], [ "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).", "yes", "375", "NRT", "NRN", "n-glyco-sequon-loss" ], [ "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).", "yes", "377", "T", "N", "o-glyco-site-loss" ], [ "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).", "yes", "377", "TLT", "NLT", "n-glyco-sequon-gain" ], [ "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).", "yes", "375", "NRT", "NRN", "n-glyco-sequon-loss" ], [ "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).", "yes", "377", "T", "N", "o-glyco-site-loss" ], [ "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).", "yes", "466", "NIT", "SIT", "n-glyco-sequon-loss" ], [ "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).", "yes", "466", "NIT", "SIT", "n-glyco-sequon-loss" ], [ "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).", "yes", "466", "NIT", "SIT", "n-glyco-sequon-loss" ], [ "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).", "yes", "466", "NIT", "SIT", "n-glyco-sequon-loss" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "0.0002", "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).", "yes", "564", "NDA", "NDT", "n-glyco-sequon-gain" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "0.0002", "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).", "yes", "564", "NDA", "NDT", "n-glyco-sequon-gain" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "0.0002", "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).", "yes", "564", "NDA", "NDT", "n-glyco-sequon-gain" ], [ "P06731-1", "566", "CEACAM5", "Carcinoembryonic antigen-related cell adhesion molecule 5", 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antigen-related cell adhesion molecule 5", "rs138799075", "cosmic curated", "[Cosmic]: central_nervous_system", "", "cosmic_study:329", "19q13.2", "19", "41720133G>", "A", "null", "A", "T", "566", "566", "0.0002", "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).", "yes", "564", "NDA", "NDT", "n-glyco-sequon-gain" ], [ "P82279-1", "437", "CRB1", "Protein crumbs homolog 1", "rs727503889", "cosmic curated", "[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).", "yes", "437", "DCS", "NCS", "n-glyco-sequon-gain" ], [ "P82279-1", "437", "CRB1", "Protein crumbs homolog 1", "rs727503889", "cosmic curated", "[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).", "yes", "437", "DCS", "NCS", "n-glyco-sequon-gain" ], [ "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).", "yes", "181", "IFS", "NFS", "n-glyco-sequon-gain" ], [ "Q8NHL6-1", "181", "LILRB1", "Leukocyte immunoglobulin-like receptor subfamily B 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"pubmed:10709097,pubmed:16696020,pubmed:17917588,pubmed:23033341,cosmic_study:456,pubmed:9796697", "17p13.1", "17", "7675120C>", "G", "null", "K", "N", "164", "164", "", "missense", "", "", "", "", "1", "Hereditary cancer-predisposing syndrome", "", "", "", "pubmed:25394175,ClinVar:RCV000492698", "protein_xref_pubmed", "23033341", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KQS->NQS).", "yes", "164", "KQS", "NQS", "n-glyco-sequon-gain" ], [ "P04637-1", "164", "TP53", "Cellular tumor antigen p53", "rs1131691034", "cosmic curated", "[Cosmic]: breast, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung", "", "pubmed:10709097,pubmed:16696020,pubmed:17917588,pubmed:23033341,cosmic_study:456,pubmed:9796697", "17p13.1", "17", "7675120C>", "G", "null", "K", "N", "164", "164", "", "missense", "", "", "", "", "1", "Hereditary cancer-predisposing syndrome", "", "", "", "pubmed:25394175,ClinVar:RCV000492698", "protein_xref_pubmed", "23033341", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KQS->NQS).", "yes", "164", "K", "N", "o-glyco-site-loss" ], [ "P04637-1", "164", "TP53", "Cellular tumor antigen p53", "rs1131691034", "cosmic curated", "[Cosmic]: breast, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung", "", "pubmed:10709097,pubmed:16696020,pubmed:17917588,pubmed:23033341,cosmic_study:456,pubmed:9796697", "17p13.1", "17", "7675120C>", "G", "null", "K", "N", "164", "164", "", "missense", "", "", "", "", "1", "Hereditary cancer-predisposing syndrome", "", "", "", "pubmed:25394175,ClinVar:RCV000492698", "protein_xref_pubmed", "9796697", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KQS->NQS).", "yes", "164", "KQS", "NQS", "n-glyco-sequon-gain" ], [ "P04637-1", "164", "TP53", "Cellular tumor antigen p53", "rs1131691034", "cosmic curated", "[Cosmic]: breast, [Cosmic]: central_nervous_system, [ClinVar]: Hereditary cancer-predisposing syndrome, [Cosmic]: oesophagus, [Cosmic]: upper_aerodigestive_tract, [UniProt]: sporadic cancers; somatic mutation, [Cosmic]: lung", "", "pubmed:10709097,pubmed:16696020,pubmed:17917588,pubmed:23033341,cosmic_study:456,pubmed:9796697", "17p13.1", "17", "7675120C>", "G", "null", "K", "N", "164", "164", "", "missense", "", "", "", "", "1", "Hereditary cancer-predisposing syndrome", "", "", "", "pubmed:25394175,ClinVar:RCV000492698", "protein_xref_pubmed", "9796697", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KQS->NQS).", "yes", "164", "K", "N", "o-glyco-site-loss" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_dbsnp", "rs587782329", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_ensembl", "rs587782329", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "10367371", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "10693987", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "11353048", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "11948487", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "11981662", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "14697642", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "15312469", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "16078640", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "16322298", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "16459017", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "17982662", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "21512767", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "22980975", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "23788652", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "23917401", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "8137263", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "8151121", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "9459157", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Acute myeloid leukemia (AML)", "CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.", "MIM:601626", "", "pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:33226740,ClinVar:RCV000444945", "protein_xref_pubmed", "9665415", "601626", "9119", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ], [ "P04637-1", "249", "TP53", "Cellular tumor antigen p53", "rs587782329", "cosmic curated", "[ClinVar]: Breast neoplasm, [ClinVar]: Acute myeloid leukemia, [Cosmic]: breast, [Cosmic]: prostate, [ClinVar]: Adenocarcinoma of stomach, [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: Medulloblastoma, [Cosmic]: oesophagus, [Cosmic]: ovary, [ClinVar]: Squamous cell carcinoma of the head and neck, [Cosmic]: lung, [Cosmic]: liver, [ClinVar]: Small cell lung carcinoma, [ClinVar]: Carcinoma of esophagus, [ClinVar]: Uterine Carcinosarcoma, [ClinVar]: Pancreatic adenocarcinoma, [Cosmic]: pancreas, [UniProt]: sporadic cancers; somatic mutation, [ClinVar]: Adenocarcinoma of prostate, [ClinVar]: Lung adenocarcinoma, [ClinVar]: Hepatocellular carcinoma, [Cosmic]: skin, [Cosmic]: central_nervous_system, [ClinVar]: Glioblastoma, [ClinVar]: Ovarian Serous Cystadenocarcinoma, [Cosmic]: upper_aerodigestive_tract, [ClinVar]: Malignant neoplasm of body of uterus", "", "pubmed:10367371,pubmed:10693987,pubmed:11353048,pubmed:11948487,pubmed:11981662,pubmed:14697642,pubmed:15312469,pubmed:16078640,pubmed:16322298,pubmed:16459017,pubmed:17982662,pubmed:21512767,pubmed:22980975,pubmed:23788652,pubmed:23917401,cosmic_study:329,cosmic_study:431,cosmic_study:527,cosmic_study:552,pubmed:8137263,pubmed:8151121,pubmed:9459157,pubmed:9665415", "17p13.1", "17", "7674217C>", "G", "null", "R", "T", "249", "249", "", "missense", "", "", "", "", "1", "Adenocarcinoma of prostate", "", "", "", "ClinVar:RCV000432872", "protein_xref_dbsnp", "rs587782329", "", "", "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRT).", "yes", "247", "NRR", "NRT", "n-glyco-sequon-gain" ] ] }, "readme": "Name\n - Human Somatic Mutations LOG and GOG effect\n\nVersion\n - 1.11.2\n\nCreated on\n - 2020-06-25T13:37:33.727471\n\nModified on\n - 2020-06-25T13:38:03.228765\n\nCreated by\n - [jeetvora@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 - \n\nChecksum\n - \n\nExecution Domain\n Scripts\n\n Software Prerequisites\n\nI/O Domain\n Output Subdomain\n Name: human_protein_mutation_somatic_glycoeffect.csv\n URI: https://data.glygen.org/ln2wwwdata/reviewed/human_protein_mutation_somatic_glycoeffect.csv\n Name: human_protein_mutation_somatic_glycoeffect.stat.csv\n URI: https://data.glygen.org/ln2wwwdata/reviewed/human_protein_mutation_somatic_glycoeffect.stat.csv", "downloadurl": "/ln2data/releases/data/v-1.12.1/reviewed/human_protein_mutation_somatic_glycoeffect.csv" }