### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EPAS1) # 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}}" "{{show_orphanet}}" "{{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}}" "EPAS1" "endothelial PAS domain protein 1" "2" "p21-p16" "unknown" "NG_016000.1" "UD_132085256274" "" "http://www.LOVD.nl/EPAS1" "" "1" "3374" "2034" "603349" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/EPAS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-11-25 11:02:09" "00000" "2025-10-10 14:01:02" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00007138" "EPAS1" "endothelial PAS domain protein 1" "001" "NM_001430.4" "" "NP_001421.2" "" "" "" "-510" "4656" "2613" "46524541" "46613842" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03056" "ECYT4" "erythrocytosis, familial, type 4 (ECYT-4)" "" "611783" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EPAS1" "03056" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00247756" "" "" "" "1" "" "01678" "" "" "" "" "" "" "0" "" "" "" "" "00247757" "" "" "" "1" "" "01678" "{PMID:Percy 2008:18378852}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00247758" "" "" "" "1" "" "01678" "{PMID:Percy 2012:22367913}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00247759" "" "" "" "2" "" "01678" "{PMID:Percy 2012:22367913}" "" "M" "" "Brazil" "" "0" "" "" "" "" "00247760" "" "" "" "1" "" "01678" "{PMID:Percy 2008:18378852}" "Her 3 children all have normal indices" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00247761" "" "" "" "2" "" "01678" "{PMID:Percy 2008:18378852}" "Her father was diagnosed with erythrocytosis and had regular venesections." "F" "" "Netherlands" "" "0" "" "" "" "" "00247762" "" "" "" "1" "" "01678" "{PMID:Percy 2008:18378852}" "1 Fam (2 Pat); His only symptom was intermittent itch; His 11-year-old daughter was diagnosed with erythrocytosis." "M" "" "Uganda" "" "0" "" "" "" "" "00247763" "" "" "" "2" "" "01678" "{PMID:Percy 2008:18184961}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00247764" "" "" "" "1" "" "01678" "{PMID:van Wijk 2010:20007141}" "" "" "" "Afghanistan" "" "0" "" "" "" "" "00247765" "" "" "" "1" "" "01678" "{PMID:Percy 2012:22367913}" "Family history of erythrocytosis" "M" "" "" "" "0" "" "" "" "" "00292757" "" "" "" "73" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304824" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00247756" "03056" "00247757" "03056" "00247758" "03056" "00247759" "03056" "00247760" "03056" "00247761" "03056" "00247762" "03056" "00247763" "03056" "00247764" "03056" "00247765" "03056" "00292757" "00198" "00304824" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03056 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000186926" "03056" "00247757" "01678" "-" "" "Congenital Erythrocytosis" "" "23y" "" "" "" "" "" "" "" "" "" "0000186927" "03056" "00247758" "01678" "-" "" "Congenital Erythrocytosis" "" "27y" "" "" "" "" "" "" "" "" "" "0000186928" "03056" "00247759" "01678" "Familial, autosomal dominant" "" "Congenital Erythrocytosis" "" "49y" "" "" "" "" "" "" "" "" "" "0000186929" "03056" "00247760" "01678" "-" "" "Congenital Erythrocytosis" "" "20y" "" "" "" "" "" "" "" "" "" "0000186930" "03056" "00247761" "01678" "Familial, autosomal dominant" "" "Congenital Erythrocytosis" "" "16y" "" "" "" "" "" "" "" "" "" "0000186931" "03056" "00247762" "01678" "Familial, autosomal dominant" "" "Congenital Erythrocytosis" "21y" "44y" "" "" "" "" "" "" "" "" "" "0000186932" "03056" "00247763" "01678" "Familial, autosomal dominant" "" "Congenital Erythrocytosis" "23y" "43y" "" "" "" "" "" "" "" "" "" "0000186933" "03056" "00247764" "01678" "-" "" "Congenital Erythrocytosis" "15y" "17y" "" "" "" "" "" "" "" "" "" "0000186934" "03056" "00247765" "01678" "-" "" "Congenital Erythrocytosis" "" "35y" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000248861" "00247756" "1" "01678" "01678" "2012-09-05 12:56:04" "" "" "SEQ" "DNA" "" "" "0000248862" "00247757" "1" "01678" "01678" "2012-08-24 01:00:36" "" "" "SEQ" "DNA" "" "" "0000248863" "00247758" "1" "01678" "01678" "2012-09-05 13:01:34" "" "" "SEQ" "DNA" "" "" "0000248864" "00247759" "1" "01678" "01678" "2012-09-05 13:06:12" "" "" "SEQ" "DNA" "" "" "0000248865" "00247760" "1" "01678" "01678" "2012-09-05 12:05:11" "01678" "2012-09-05 12:06:41" "SEQ" "DNA" "" "" "0000248866" "00247761" "1" "01678" "01678" "2012-09-05 12:11:24" "" "" "SEQ" "DNA" "" "" "0000248867" "00247762" "1" "01678" "01678" "2012-09-05 12:15:23" "" "" "SEQ" "DNA" "" "" "0000248868" "00247763" "1" "01678" "01678" "2012-09-05 12:22:12" "" "" "SEQ" "DNA" "" "" "0000248869" "00247764" "1" "01678" "01678" "2012-09-05 12:43:32" "" "" "SEQ" "DNA" "" "" "0000248870" "00247765" "1" "01678" "01678" "2012-09-05 12:48:00" "" "" "SEQ" "DNA" "" "" "0000293925" "00292757" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305953" "00304824" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000248861" "EPAS1" "0000248862" "EPAS1" "0000248863" "EPAS1" "0000248864" "EPAS1" "0000248865" "EPAS1" "0000248866" "EPAS1" "0000248867" "EPAS1" "0000248868" "EPAS1" "0000248869" "EPAS1" "0000248870" "EPAS1" ## 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 = 59 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000267843" "0" "10" "2" "46583280" "46583280" "subst" "0" "02325" "EPAS1_000012" "g.46583280C>T" "" "" "" "EPAS1(NM_001430.5):c.218-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46356141C>T" "" "benign" "" "0000267846" "0" "10" "2" "46583281" "46583281" "subst" "0" "02325" "EPAS1_000014" "g.46583281C>T" "" "" "" "EPAS1(NM_001430.5):c.218-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46356142C>T" "" "benign" "" "0000501804" "0" "99" "2" "46607412" "46607412" "subst" "0" "01678" "EPAS1_000006" "g.46607412C>T" "" "{PMID:Furlow 2009:19208626}" "" "" "" "Unknown" "" "" "0" "" "" "g.46380273C>T" "" "pathogenic" "" "0000501805" "0" "77" "2" "46607414" "46607414" "subst" "0" "01678" "EPAS1_000001" "g.46607414A>G" "1/75 patients" "{PMID:Percy 2008:18378852}" "" "" "" "Unknown" "" "" "0" "" "" "g.46380275A>G" "" "pathogenic" "" "0000501806" "0" "99" "2" "46607415" "46607415" "subst" "0" "01678" "EPAS1_000007" "g.46607415T>C" "" "{PMID:Percy 2012:22367913}" "" "" "C-terminal and in close proximity to the primary site of prolyl hydroxyla- tion in HIF-2a, Pro-531" "Unknown" "" "" "0" "" "" "g.46380276T>C" "" "likely pathogenic" "" "0000501807" "10" "99" "2" "46607415" "46607415" "subst" "0" "01678" "EPAS1_000007" "g.46607415T>C" "" "{PMID:Percy 2012:22367913}" "" "" "C-terminal and in close proximity to the primary site of prolyl hydroxyla- tion in HIF-2a, Pro-531" "Germline" "" "" "0" "" "" "g.46380276T>C" "" "pathogenic" "" "0000501808" "0" "77" "2" "46607420" "46607420" "subst" "0" "01678" "EPAS1_000002" "g.46607420G>A" "1/75 patients" "{PMID:Percy 2008:18378852}" "" "" "" "Unknown" "" "" "0" "" "" "g.46380281G>A" "" "likely pathogenic" "" "0000501809" "0" "99" "2" "46607420" "46607420" "subst" "0" "01678" "EPAS1_000002" "g.46607420G>A" "1/75 patients" "{PMID:Percy 2008:18378852}" "" "" "" "Germline" "" "" "0" "" "" "g.46380281G>A" "" "pathogenic" "" "0000501810" "0" "99" "2" "46607420" "46607420" "subst" "0" "01678" "EPAS1_000002" "g.46607420G>A" "1/75 patients" "{PMID:Percy 2008:18378852}" "" "" "" "Unknown" "" "" "0" "" "" "g.46380281G>A" "" "pathogenic" "" "0000501811" "21" "99" "2" "46607420" "46607420" "subst" "0" "01678" "EPAS1_000003" "g.46607420G>T" "1/188 patients" "{PMID:Percy 2008:18184961}" "" "" "Gly537 is located in the vicinity of Pro531" "Germline" "" "" "0" "" "" "g.46380281G>T" "" "pathogenic" "" "0000501812" "0" "99" "2" "46607428" "46607428" "subst" "0" "01678" "EPAS1_000004" "g.46607428C>G" "1/106 controls" "{PMID:van Wijk 2010:20007141}" "BbsI" "" "mutation affecting a residue C-terminal to the hydroxylacceptor Pro531" "Unknown" "" "" "0" "" "" "g.46380289C>G" "" "pathogenic" "" "0000501813" "0" "99" "2" "46607431" "46607431" "subst" "0" "01678" "EPAS1_000005" "g.46607431C>G" "" "{PMID:Percy 2012:22367913}" "" "" "C-terminal and in close proximity to the primary site of prolyl hydroxyla- tion in HIF-2a, Pro-531" "Unknown" "" "" "0" "" "" "g.46380292C>G" "" "pathogenic" "" "0000516071" "0" "10" "2" "46583278" "46583279" "ins" "0" "02325" "EPAS1_000015" "g.46583278_46583279insGC" "" "" "" "EPAS1(NM_001430.5):c.218-12_218-11insGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46356139_46356140insGC" "" "benign" "" "0000516072" "0" "10" "2" "46583281" "46583282" "ins" "0" "02325" "EPAS1_000016" "g.46583281_46583282insT" "" "" "" "EPAS1(NM_001430.5):c.218-9_218-8insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46356142_46356143insT" "" "benign" "" "0000516073" "0" "30" "2" "46583303" "46583303" "subst" "0.000113931" "01943" "EPAS1_000017" "g.46583303C>T" "" "" "" "EPAS1(NM_001430.4):c.231C>T (p.N77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46356164C>T" "" "likely benign" "" "0000516074" "0" "30" "2" "46588117" "46588117" "subst" "8.12823E-6" "01943" "EPAS1_000018" "g.46588117A>C" "" "" "" "EPAS1(NM_001430.4):c.667A>C (p.I223L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46360978A>C" "" "likely benign" "" "0000650614" "1" "10" "2" "46609572" "46609572" "subst" "0.0505973" "03575" "EPAS1_000019" "g.46609572A>C" "73/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "73 heterozygous; {DB:CLININrs59901247}" "Germline" "" "rs59901247" "0" "" "" "g.46382433A>C" "" "benign" "" "0000669641" "3" "10" "2" "46609572" "46609572" "subst" "0.0505973" "03575" "EPAS1_000019" "g.46609572A>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs59901247}" "Germline" "" "rs59901247" "0" "" "" "g.46382433A>C" "" "benign" "" "0000676650" "0" "50" "2" "46609184" "46609184" "subst" "0" "02325" "EPAS1_000020" "g.46609184G>A" "" "" "" "EPAS1(NM_001430.5):c.2243G>A (p.C748Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000849916" "0" "10" "2" "46583281" "46583282" "ins" "0" "02326" "EPAS1_000016" "g.46583281_46583282insT" "" "" "" "EPAS1(NM_001430.5):c.218-9_218-8insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849917" "0" "50" "2" "46607721" "46607721" "subst" "4.06253E-6" "01943" "EPAS1_000021" "g.46607721C>T" "" "" "" "EPAS1(NM_001430.4):c.1910C>T (p.T637I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885221" "0" "30" "2" "46609733" "46609733" "subst" "0.00194788" "02326" "EPAS1_000022" "g.46609733G>A" "" "" "" "EPAS1(NM_001430.5):c.2457G>A (p.(Val819=), p.V819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911722" "0" "30" "2" "46583280" "46583280" "subst" "0.000231194" "02326" "EPAS1_000023" "g.46583280C>G" "" "" "" "EPAS1(NM_001430.5):c.218-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923713" "0" "30" "2" "46583278" "46583278" "subst" "0" "02326" "EPAS1_000024" "g.46583278C>T" "" "" "" "EPAS1(NM_001430.5):c.218-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923714" "0" "10" "2" "46583279" "46583279" "subst" "0.00462281" "02326" "EPAS1_000025" "g.46583279C>G" "" "" "" "EPAS1(NM_001430.5):c.218-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923715" "0" "10" "2" "46583279" "46583280" "ins" "0.309407" "02326" "EPAS1_000026" "g.46583279_46583280insT" "" "" "" "EPAS1(NM_001430.5):c.218-11_218-10insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923716" "0" "30" "2" "46588237" "46588237" "subst" "0.00179627" "02326" "EPAS1_000027" "g.46588237G>T" "" "" "" "EPAS1(NM_001430.5):c.779+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923717" "0" "30" "2" "46603764" "46603764" "subst" "0.0040078" "02326" "EPAS1_000028" "g.46603764T>A" "" "" "" "EPAS1(NM_001430.4):c.1121T>A (p.(Phe374Tyr)), EPAS1(NM_001430.5):c.1121T>A (p.F374Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975303" "0" "30" "2" "46583282" "46583282" "del" "0" "01804" "EPAS1_000029" "g.46583282del" "" "" "" "EPAS1(NM_001430.5):c.218-8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975304" "0" "30" "2" "46608871" "46608871" "subst" "0" "01804" "EPAS1_000030" "g.46608871C>A" "" "" "" "EPAS1(NM_001430.5):c.2172+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975305" "0" "30" "2" "46609733" "46609733" "subst" "0.00194788" "01804" "EPAS1_000022" "g.46609733G>A" "" "" "" "EPAS1(NM_001430.5):c.2457G>A (p.(Val819=), p.V819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992883" "0" "30" "2" "46588194" "46588194" "subst" "0.000244409" "02327" "EPAS1_000031" "g.46588194C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992884" "0" "30" "2" "46588237" "46588237" "subst" "0.00179627" "02327" "EPAS1_000027" "g.46588237G>T" "" "" "" "EPAS1(NM_001430.5):c.779+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992885" "0" "30" "2" "46603764" "46603764" "subst" "0.0040078" "01804" "EPAS1_000028" "g.46603764T>A" "" "" "" "EPAS1(NM_001430.4):c.1121T>A (p.(Phe374Tyr)), EPAS1(NM_001430.5):c.1121T>A (p.F374Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992886" "0" "50" "2" "46603829" "46603829" "subst" "0" "01804" "EPAS1_000032" "g.46603829G>T" "" "" "" "EPAS1(NM_001430.4):c.1186G>T (p.(Glu396*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992887" "0" "50" "2" "46603892" "46603892" "subst" "0" "01804" "EPAS1_000033" "g.46603892G>C" "" "" "" "EPAS1(NM_001430.4):c.1249G>C (p.(Gly417Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013741" "0" "10" "2" "46583278" "46583278" "subst" "0" "02327" "EPAS1_000034" "g.46583278C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013742" "0" "30" "2" "46605083" "46605083" "subst" "0.000381611" "02327" "EPAS1_000035" "g.46605083C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013743" "0" "30" "2" "46607774" "46607774" "subst" "0.000191133" "02327" "EPAS1_000036" "g.46607774G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024596" "0" "30" "2" "46609733" "46609733" "subst" "0.00194788" "02327" "EPAS1_000022" "g.46609733G>A" "" "" "" "EPAS1(NM_001430.5):c.2457G>A (p.(Val819=), p.V819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045831" "0" "30" "2" "46583279" "46583279" "subst" "0.00462281" "02327" "EPAS1_000025" "g.46583279C>G" "" "" "" "EPAS1(NM_001430.5):c.218-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045832" "0" "30" "2" "46603764" "46603764" "subst" "0.0040078" "02327" "EPAS1_000028" "g.46603764T>A" "" "" "" "EPAS1(NM_001430.4):c.1121T>A (p.(Phe374Tyr)), EPAS1(NM_001430.5):c.1121T>A (p.F374Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047197" "0" "30" "2" "46611853" "46611853" "subst" "0" "03779" "EPAS1_000037" "g.46611853C>T" "" "" "" "" "" "Unknown" "" "rs142847751" "0" "" "" "" "" "likely benign" "" "0001048436" "0" "30" "2" "46604008" "46604010" "del" "0" "03779" "EPAS1_000038" "g.46604008_46604010del" "" "" "" "" "" "Unknown" "" "rs761252285" "0" "" "" "" "" "likely benign" "" "0001048437" "0" "10" "2" "46607644" "46607644" "subst" "0.0102332" "03779" "EPAS1_000039" "g.46607644C>T" "" "" "" "" "" "Unknown" "" "rs41281469" "0" "" "" "" "" "benign" "" "0001048438" "0" "30" "2" "46609045" "46609045" "subst" "0" "03779" "EPAS1_000040" "g.46609045C>G" "" "" "" "" "" "Unknown" "" "rs79843796" "0" "" "" "" "" "likely benign" "" "0001048439" "0" "10" "2" "46609572" "46609572" "subst" "0.0505973" "03779" "EPAS1_000019" "g.46609572A>C" "" "" "" "" "" "Unknown" "" "rs59901247" "0" "" "" "" "" "benign" "" "0001048975" "0" "10" "2" "46525255" "46525255" "subst" "0" "03779" "EPAS1_000041" "g.46525255G>A" "" "" "" "" "" "Unknown" "" "rs73926251" "0" "" "" "" "" "benign" "" "0001048976" "0" "30" "2" "46574352" "46574352" "subst" "0" "03779" "EPAS1_000042" "g.46574352T>C" "" "" "" "" "" "Unknown" "" "rs148280013" "0" "" "" "" "" "likely benign" "" "0001048977" "0" "30" "2" "46588013" "46588013" "subst" "0.000845137" "03779" "EPAS1_000043" "g.46588013G>A" "" "" "" "" "" "Unknown" "" "rs199730851" "0" "" "" "" "" "likely benign" "" "0001048978" "0" "30" "2" "46603088" "46603088" "subst" "0" "03779" "EPAS1_000044" "g.46603088A>G" "" "" "" "" "" "Unknown" "" "rs115072343" "0" "" "" "" "" "likely benign" "" "0001048979" "0" "30" "2" "46603640" "46603640" "subst" "0.00424602" "03779" "EPAS1_000045" "g.46603640A>C" "" "" "" "" "" "Unknown" "" "rs116083076" "0" "" "" "" "" "likely benign" "" "0001048980" "0" "10" "2" "46603930" "46603930" "subst" "0.00673721" "03779" "EPAS1_000046" "g.46603930C>T" "" "" "" "" "" "Unknown" "" "rs77794056" "0" "" "" "" "" "benign" "" "0001048981" "0" "30" "2" "46605367" "46605367" "subst" "0" "03779" "EPAS1_000048" "g.46605367T>G" "" "" "" "" "" "Unknown" "" "rs184281078" "0" "" "" "" "" "likely benign" "" "0001048982" "0" "30" "2" "46606098" "46606098" "subst" "0" "03779" "EPAS1_000049" "g.46606098A>G" "" "" "" "" "" "Unknown" "" "rs75840827" "0" "" "" "" "" "likely benign" "" "0001048983" "0" "30" "2" "46609278" "46609278" "subst" "0.00242614" "03779" "EPAS1_000050" "g.46609278C>T" "" "" "" "" "" "Unknown" "" "rs144804391" "0" "" "" "" "" "likely benign" "" "0001048984" "0" "30" "2" "46609718" "46609718" "subst" "0.000101616" "03779" "EPAS1_000051" "g.46609718G>A" "" "" "" "" "" "Unknown" "" "rs4953362" "0" "" "" "" "" "likely benign" "" "0001049009" "0" "30" "2" "46604910" "46604910" "dup" "0" "03779" "EPAS1_000047" "g.46604910dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" ## 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 EPAS1 ## Count = 59 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000267843" "00007138" "10" "218" "-10" "218" "-10" "c.218-10C>T" "r.(=)" "p.(=)" "" "0000267846" "00007138" "10" "218" "-9" "218" "-9" "c.218-9C>T" "r.(=)" "p.(=)" "" "0000501804" "00007138" "99" "1601" "0" "1601" "0" "c.1601C>T" "r.(?)" "p.(Pro534Leu)" "12" "0000501805" "00007138" "77" "1603" "0" "1603" "0" "c.1603A>G" "r.(?)" "p.Met535Val" "12" "0000501806" "00007138" "99" "1604" "0" "1604" "0" "c.1604T>C" "r.(?)" "p.(Met535Thr)" "12" "0000501807" "00007138" "99" "1604" "0" "1604" "0" "c.1604T>C" "r.(?)" "p.(Met535Thr)" "12" "0000501808" "00007138" "77" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Gly537Arg)" "12" "0000501809" "00007138" "99" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Gly537Arg)" "12" "0000501810" "00007138" "99" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Gly537Arg)" "12" "0000501811" "00007138" "99" "1609" "0" "1609" "0" "c.1609G>T" "r.(?)" "p.(Gly537Trp)" "12" "0000501812" "00007138" "99" "1617" "0" "1617" "0" "c.1617C>G" "r.(?)" "p.(Asp539Glu)" "12" "0000501813" "00007138" "99" "1620" "0" "1620" "0" "c.1620C>G" "r.(?)" "p.(Phe540Leu)" "12" "0000516071" "00007138" "10" "218" "-12" "218" "-11" "c.218-12_218-11insGC" "r.(=)" "p.(=)" "" "0000516072" "00007138" "10" "218" "-9" "218" "-8" "c.218-9_218-8insT" "r.(=)" "p.(=)" "" "0000516073" "00007138" "30" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(Asn77=)" "" "0000516074" "00007138" "30" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Ile223Leu)" "" "0000650614" "00007138" "10" "2296" "0" "2296" "0" "c.2296A>C" "r.(?)" "p.(Thr766Pro)" "" "0000669641" "00007138" "10" "2296" "0" "2296" "0" "c.2296A>C" "r.(?)" "p.(Thr766Pro)" "" "0000676650" "00007138" "50" "2243" "0" "2243" "0" "c.2243G>A" "r.(?)" "p.(Cys748Tyr)" "" "0000829418" "00007138" "50" "-8388608" "0" "8388607" "0" "c.-18924643_*15469382dup" "r.0?" "p.0?" "" "0000849916" "00007138" "10" "218" "-9" "218" "-8" "c.218-9_218-8insT" "r.(=)" "p.(=)" "" "0000849917" "00007138" "50" "1910" "0" "1910" "0" "c.1910C>T" "r.(?)" "p.(Thr637Ile)" "" "0000885221" "00007138" "30" "2457" "0" "2457" "0" "c.2457G>A" "r.(?)" "p.(Val819=)" "" "0000911722" "00007138" "30" "218" "-10" "218" "-10" "c.218-10C>G" "r.(=)" "p.(=)" "" "0000923713" "00007138" "30" "218" "-12" "218" "-12" "c.218-12C>T" "r.(=)" "p.(=)" "" "0000923714" "00007138" "10" "218" "-11" "218" "-11" "c.218-11C>G" "r.(=)" "p.(=)" "" "0000923715" "00007138" "10" "218" "-11" "218" "-10" "c.218-11_218-10insT" "r.(=)" "p.(=)" "" "0000923716" "00007138" "30" "779" "8" "779" "8" "c.779+8G>T" "r.(=)" "p.(=)" "" "0000923717" "00007138" "30" "1121" "0" "1121" "0" "c.1121T>A" "r.(?)" "p.(Phe374Tyr)" "" "0000975303" "00007138" "30" "218" "-8" "218" "-8" "c.218-8del" "r.(=)" "p.(=)" "" "0000975304" "00007138" "30" "2172" "10" "2172" "10" "c.2172+10C>A" "r.(=)" "p.(=)" "" "0000975305" "00007138" "30" "2457" "0" "2457" "0" "c.2457G>A" "r.(?)" "p.(Val819=)" "" "0000992883" "00007138" "30" "744" "0" "744" "0" "c.744C>T" "r.(?)" "p.(=)" "" "0000992884" "00007138" "30" "779" "8" "779" "8" "c.779+8G>T" "r.(=)" "p.(=)" "" "0000992885" "00007138" "30" "1121" "0" "1121" "0" "c.1121T>A" "r.(?)" "p.(Phe374Tyr)" "" "0000992886" "00007138" "50" "1186" "0" "1186" "0" "c.1186G>T" "r.(?)" "p.(Glu396*)" "" "0000992887" "00007138" "50" "1249" "0" "1249" "0" "c.1249G>C" "r.(?)" "p.(Gly417Arg)" "" "0001013741" "00007138" "10" "218" "-12" "218" "-12" "c.218-12C>A" "r.(=)" "p.(=)" "" "0001013742" "00007138" "30" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Pro434Ser)" "" "0001013743" "00007138" "30" "1963" "0" "1963" "0" "c.1963G>A" "r.(?)" "p.(Gly655Arg)" "" "0001024596" "00007138" "30" "2457" "0" "2457" "0" "c.2457G>A" "r.(?)" "p.(Val819=)" "" "0001045831" "00007138" "30" "218" "-11" "218" "-11" "c.218-11C>G" "r.(=)" "p.(=)" "" "0001045832" "00007138" "30" "1121" "0" "1121" "0" "c.1121T>A" "r.(?)" "p.(Phe374Tyr)" "" "0001047197" "00007138" "30" "2667" "0" "2667" "0" "c.*54C>T" "r.(?)" "p.(?)" "" "0001048436" "00007138" "30" "1249" "116" "1249" "118" "c.1249+116_1249+118del" "r.(?)" "p.(?)" "" "0001048437" "00007138" "10" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Ala611=)" "" "0001048438" "00007138" "30" "2173" "-69" "2173" "-69" "c.2173-69C>G" "r.(?)" "p.(?)" "" "0001048439" "00007138" "10" "2296" "0" "2296" "0" "c.2296A>C" "r.(?)" "p.(Thr766Pro)" "" "0001048975" "00007138" "10" "26" "179" "26" "179" "c.26+179G>A" "r.(?)" "p.(?)" "" "0001048976" "00007138" "30" "217" "150" "217" "150" "c.217+150T>C" "r.(?)" "p.(?)" "" "0001048977" "00007138" "30" "574" "-11" "574" "-11" "c.574-11G>A" "r.(?)" "p.(?)" "" "0001048978" "00007138" "30" "1034" "112" "1034" "112" "c.1034+112A>G" "r.(?)" "p.(?)" "" "0001048979" "00007138" "30" "1035" "-38" "1035" "-38" "c.1035-38A>C" "r.(?)" "p.(?)" "" "0001048980" "00007138" "10" "1249" "38" "1249" "38" "c.1249+38C>T" "r.(?)" "p.(?)" "" "0001048981" "00007138" "30" "1443" "141" "1443" "141" "c.1443+141T>G" "r.(?)" "p.(?)" "" "0001048982" "00007138" "30" "1554" "192" "1554" "192" "c.1554+192A>G" "r.(?)" "p.(?)" "" "0001048983" "00007138" "30" "2287" "50" "2287" "50" "c.2287+50C>T" "r.(?)" "p.(?)" "" "0001048984" "00007138" "30" "2442" "0" "2442" "0" "c.2442G>A" "r.(?)" "p.(Ser814=)" "" "0001049009" "00007138" "30" "1250" "-123" "1250" "-123" "c.1250-123dup" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000248861" "0000501804" "0000248862" "0000501805" "0000248863" "0000501806" "0000248864" "0000501807" "0000248865" "0000501808" "0000248866" "0000501809" "0000248867" "0000501810" "0000248868" "0000501811" "0000248869" "0000501812" "0000248870" "0000501813" "0000293925" "0000650614" "0000305953" "0000669641"