Identification and Provenance fields =================================================================================================== Object ID: Type ID:Human Name: Title: - Version:1.1 Created: Jan 17, 2018 09:40:17 Created by: Lama Elzohary(lama@gwu.edu) Modified: - Modified by: - Digital Signature: Verification status:in_progress Publication_status:Draft Authors: Description =================================================================================================== This table contains 8,895 somatic variants mapping to an NLG position and predicted to cause a loss of the consensus NXS/T motif at that position. These variants include ONLY those somatic variants WITHOUT germline variants occurring at the same positions. Table Headers ==================================================================================================== Column Header Description ------------- ------------ UniProtKB_AC UniProtKB/Swiss-Prot Accession UniProtKB_AC:UniProtKB/Swiss-Prot Accession Gene_Name:Gene Name Motif_Position:The Position of the "N" in the identified NXS/T sequon Subsequence:Four-residue sequence about the NXS/T sequon beginning with the "N" Method:Identification method(s) used to find a given sequon in a given protein Domain:Domain mapping to the position, if reported Secondary_Structure:Secondary structure mapping to the position, if reported NetNGlyc_Prediction:Likelihood of actual glycosylation at the sequon, as reported by NetNGlyc Mutation_Position:Position of the altered residue Reference:Reference amino acid Variation:Altered amino acid resulting from nsSNV Genomic_Variation:Position of nucleotide variation within the coding frame Minor_Allele_Frequency:MAF retrieved through Annovar during annotation associated with that position Source_Freq:Frequency of samples containing this variant call by source PolyPhen2_Prediction:Functional prediction reported by PolyPhen2 software; can be possibly damaging, probably damaging, or benign Cancer_Type:Disease ontology ID (DOID) and label of cancers associated with samples containing this variant Data_Source:Primary source of data from which variant calls were obtained Patient_ID:Patient ID from primary source, when available PMID:PubMed article ID for associated literature, when available HGMD_Disease:Diseases associated with this variant in HGMD, when available HGMD_PMID:PubMed article ID corresponding to publication reporting disease association in HGMD, when available Statistics ===================================================================================================== UniProtKB_AC 5197 Gene_Name 5196 Motif_Position 1847 Subsequence 775 "Method" 217 Domain 271 Secondary_Structure 4 NetNGlyc_Prediction 7 Mutation_Position 1895 Reference 15 Variation 18 Genomic_Variation 3 Minor_Allele_Frequency 17 "Source_Freq" 644 PolyPhen2_Prediction 4 Cancer_Type 170 Data_Source 17 Patient_ID 2144 PMID 192 HGMD_Disease 14 HGMD_PMID 20