### LOVD-version 3000-230 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMARCA4) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "SMARCA4" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4" "19" "p13.2" "unknown" "NG_011556.2" "UD_145627653960" "" "" "" "1" "11100" "6597" "603254" "0" "0" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-09-17 00:00:00" "00001" "2020-09-24 15:25:48" "00001" "2020-09-24 15:28:09" ## Transcripts ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000245" "SMARCA4" "transcript variant 1" "014" "NM_001128849.1" "" "NP_001122321.1" "" "" "" "-74" "5506" "5040" "11071808" "11172958" "00001" "2020-09-24 15:25:09" "" "" "00000246" "SMARCA4" "transcript variant 2" "001" "NM_001128844.1" "" "NP_001122316.1" "" "" "" "-360" "5410" "4944" "11071598" "11172958" "00001" "2020-09-24 15:25:09" "" "" "00000247" "SMARCA4" "transcript variant 3" "002" "NM_003072.3" "" "NP_003063.2" "" "" "" "-284" "5410" "4944" "11071598" "11172958" "00001" "2020-09-24 15:25:09" "" "" "00000248" "SMARCA4" "transcript variant 4" "016" "NM_001128845.1" "" "NP_001122317.1" "" "" "" "1" "5320" "4854" "11094828" "11172958" "00001" "2020-09-24 15:25:09" "" "" "00000249" "SMARCA4" "transcript variant 5" "017" "NM_001128846.1" "" "NP_001122318.1" "" "" "" "1" "5317" "4851" "11094828" "11172958" "00001" "2020-09-24 15:25:09" "" "" "00000250" "SMARCA4" "transcript variant 6" "018" "NM_001128847.1" "" "NP_001122319.1" "" "" "" "1" "5311" "4845" "11094828" "11172958" "00001" "2020-09-24 15:25:09" "" "" "00000251" "SMARCA4" "transcript variant 7" "019" "NM_001128848.1" "" "NP_001122320.1" "" "" "" "1" "5308" "4842" "11094828" "11172958" "00001" "2020-09-24 15:25:09" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2020-05-19 10:42:07" "" "" "00171" "OVCA" "Ovarian Cancer" "" "167000" "ovary" "" "" "00001" "2020-05-20 17:59:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SMARCA4" "00171" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Population}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic2}}" "00021483" "" "" "" "6" "00001" "" "" "F" "AetoliaAcarnania" "Greek" "no" "Agios Nikolaos, Kalavryta" "00021484" "" "" "00021483" "5" "00001" "" "" "F" "Lepenou, AetoliaAcarnania" "Greek" "no" "Agios Nikolaos, Kalavryta" "00021486" "" "" "00021483" "5" "00001" "" "" "F" "AetoliaAcarnania" "Greek" "no" "Agrinio & Kalavryta" "00021487" "" "" "00021483" "5" "00001" "" "" "M" "Lepenou, AetoliaAcarnania" "Greek" "no" "Agios Nikolaos, Kalavryta" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00021483" "00171" "00021484" "00171" "00021486" "00000" "00021487" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00171 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Subtype}}" "{{Phenotype/OvCa/FH}}" "0000013182" "00171" "00021483" "00001" "" "" "12y" "" "Yes" "0000013315" "00171" "00021484" "00001" "" "" "40y" "" "N/A" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Type}}" "0000007401" "00021483" "1" "00001" "00001" "2020-09-17 12:00:00" "00001" "2020-09-17 12:00:01" "SEQ" "DNA" "1" "0000007402" "00021484" "1" "00001" "00001" "2020-09-17 12:00:00" "00001" "2020-09-17 12:00:01" "SEQ" "DNA" "0" "0000007404" "00021486" "1" "00001" "00001" "2020-09-17 12:00:00" "00001" "2020-09-17 12:00:01" "SEQ" "DNA" "0" "0000007405" "00021487" "1" "00001" "00001" "2020-09-17 12:00:00" "00001" "2020-09-17 12:00:01" "SEQ" "DNA" "0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000007401" "SMARCA4" "0000007402" "SMARCA4" "0000007404" "SMARCA4" "0000007405" "SMARCA4" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 4 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{greek_freq}}" "{{allele_count}}" "{{allele_number}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/IsGreekFounder}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/AKA}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/GeographicOrigin}}" "0000040892" "21" "99" "19" "11138483" "11138483" "subst" "0" "0.000173792" "1" "5754" "00001" "SMARCA4_000001" "g.11138483G>A" "" "" "" "" "Germline" "" "" "" "0000040893" "21" "99" "19" "11138483" "11138483" "subst" "0" "0.000173792" "1" "5754" "00001" "SMARCA4_000001" "g.11138483G>A" "" "" "" "" "Germline" "" "" "" "0000040894" "2" "99" "19" "11138483" "11138483" "subst" "0" "0.000173792" "1" "5754" "00001" "SMARCA4_000001" "g.11138483G>A" "" "" "" "" "Germline" "" "" "" "0000040895" "2" "99" "19" "11138483" "11138483" "subst" "0" "0.000173792" "1" "5754" "00001" "SMARCA4_000001" "g.11138483G>A" "" "" "" "" "Germline" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SMARCA4 ## Count = 28 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "0000040892" "00000245" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040892" "00000246" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040892" "00000247" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040892" "00000248" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040892" "00000249" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040892" "00000250" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040892" "00000251" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040893" "00000245" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040893" "00000246" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040893" "00000247" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040893" "00000248" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040893" "00000249" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040893" "00000250" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040893" "00000251" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040894" "00000245" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040894" "00000246" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040894" "00000247" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040894" "00000248" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040894" "00000249" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040894" "00000250" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040894" "00000251" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040895" "00000245" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040895" "00000246" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040895" "00000247" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040895" "00000248" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040895" "00000249" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040895" "00000250" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" "0000040895" "00000251" "99" "3239" "0" "3239" "0" "c.3239G>A" "" "p.(Gly1080Asp)" "r.(?)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000007401" "0000040892" "0000007402" "0000040893" "0000007404" "0000040894" "0000007405" "0000040895"