### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COG1) # 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}}" "COG1" "component of oligomeric golgi complex 1" "17" "q25.1" "unknown" "NG_008971.1" "UD_132048704233" "" "http://www.LOVD.nl/COG1" "" "1" "6545" "9382" "606973" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) 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/COG1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2014-10-23 06:27:27" "00000" "2026-01-20 18:57:21" ## 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}}" "00005446" "COG1" "component of oligomeric golgi complex 1" "001" "NM_018714.2" "" "NP_061184.1" "" "" "" "-36" "2999" "2943" "71189173" "71204646" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03014" "CDG2G" "glycosylation, congenital disorder of, type IIg (CDG-2G)" "AR" "611209" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COG1" "00139" "COG1" "03014" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00050616" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00291830" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291831" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291832" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304599" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00443875" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, affected sister/brother, unaffected heterozygous parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "FamCPatIII1" "00443876" "" "" "00443875" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "brother" "M" "yes" "Turkey" "2y" "0" "" "" "" "FamCPatIII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00050616" "00198" "00291830" "00198" "00291831" "00198" "00291832" "00198" "00304599" "00198" "00443875" "06906" "00443876" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03014, 06906 ## Count = 3 "{{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}}" "0000037228" "00198" "00050616" "00006" "Isolated (sporadic)" "" "seizures, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000333152" "06906" "00443875" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., 14d-myoclonic seizure; 5m-generalized tonic-clonic seizures; EEG at onset suppression-burst pattern; drug-resistant epilepsy; tetraparesis, increased muscle tonus limbs; conductive hearing loss; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; MRI brain 3y-normal" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" "0000333153" "06906" "00443876" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., 2y-deceased; first days of life myoclonic seizure, tonic seizures,generalized tonic-clonic seizures; increasing seizure frequency (type unknown); EEG at onset suppression-burst pattern; drug-resistant epilepsy; tetraparesis, increased muscle tonus limbs; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; MRI brain 1y-normal" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050561" "00050616" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000292998" "00291830" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292999" "00291831" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293000" "00291832" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305728" "00304599" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000445372" "00443875" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445373" "00443876" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000050561" "COG1" ## 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 = 62 "{{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}}" "0000079541" "3" "90" "17" "71196139" "71196139" "subst" "0.00527781" "00006" "COG1_000001" "g.71196139C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.73200000C>T" "" "pathogenic" "" "0000248701" "0" "10" "17" "71192873" "71192873" "subst" "0.500275" "02325" "COG1_000004" "g.71192873A>G" "" "" "" "COG1(NM_018714.3):c.543A>G (p.A181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73196734A>G" "" "benign" "" "0000248864" "0" "10" "17" "71196809" "71196809" "subst" "0.521331" "02325" "COG1_000007" "g.71196809A>G" "" "" "" "COG1(NM_018714.3):c.1175A>G (p.N392S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73200670A>G" "" "benign" "" "0000253559" "0" "10" "17" "71192859" "71192859" "subst" "0.00132545" "01943" "COG1_000003" "g.71192859A>G" "" "" "" "COG1(NM_018714.2):c.529A>G (p.I177V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73196720A>G" "" "benign" "" "0000266870" "0" "30" "17" "71196139" "71196139" "subst" "0.00527781" "02325" "COG1_000001" "g.71196139C>T" "" "" "" "COG1(NM_018714.2):c.1049C>T (p.(Thr350Met)), COG1(NM_018714.3):c.1049C>T (p.T350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73200000C>T" "" "likely benign" "" "0000266871" "0" "10" "17" "71201675" "71201675" "subst" "0.948609" "02325" "COG1_000010" "g.71201675T>C" "" "" "" "COG1(NM_018714.3):c.2383-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73205536T>C" "" "benign" "" "0000266872" "0" "10" "17" "71192663" "71192663" "subst" "0.498818" "02325" "COG1_000002" "g.71192663G>A" "" "" "" "COG1(NM_018714.3):c.333G>A (p.Q111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73196524G>A" "" "benign" "" "0000273753" "0" "10" "17" "71202837" "71202837" "subst" "0.00131223" "01943" "COG1_000012" "g.71202837T>G" "" "" "" "COG1(NM_018714.2):c.2620-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73206698T>G" "" "benign" "" "0000273754" "0" "10" "17" "71193397" "71193397" "subst" "0.000929881" "01943" "COG1_000006" "g.71193397G>T" "" "" "" "COG1(NM_018714.2):c.775G>T (p.V259L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73197258G>T" "" "benign" "" "0000325572" "0" "50" "17" "71193106" "71193106" "subst" "3.24876E-5" "01804" "COG1_000005" "g.71193106G>A" "" "" "" "COG1(NM_018714.2):c.628G>A (p.(Glu210Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73196967G>A" "" "VUS" "" "0000325574" "0" "30" "17" "71199837" "71199837" "subst" "2.03031E-5" "01804" "COG1_000009" "g.71199837G>T" "" "" "" "COG1(NM_018714.2):c.2287G>T (p.(Ala763Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73203698G>T" "" "likely benign" "" "0000325575" "0" "50" "17" "71201726" "71201726" "subst" "1.62434E-5" "01804" "COG1_000011" "g.71201726C>T" "" "" "" "COG1(NM_018714.2):c.2417C>T (p.(Ala806Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73205587C>T" "" "VUS" "" "0000325576" "0" "50" "17" "71202959" "71202965" "del" "0" "01804" "COG1_000013" "g.71202959_71202965del" "" "" "" "COG1(NM_018714.2):c.2729+3_2729+9del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73206820_73206826del" "" "VUS" "" "0000325577" "0" "50" "17" "71205863" "71205863" "subst" "0" "01804" "FAM104A_000001" "g.71205863G>C" "" "" "" "FAM104A(NM_001098832.1):c.429C>G (p.(Ser143Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73209724G>C" "" "VUS" "" "0000325578" "0" "30" "17" "71208842" "71208842" "subst" "0" "01804" "FAM104A_000002" "g.71208842A>G" "" "" "" "FAM104A(NM_001098832.1):c.359T>C (p.(Leu120Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73212703A>G" "" "likely benign" "" "0000346341" "0" "30" "17" "71204565" "71204565" "subst" "0" "02327" "COG1_000014" "g.71204565G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73208426G>A" "" "likely benign" "" "0000562925" "0" "30" "17" "71189266" "71189266" "subst" "0.0110929" "01804" "COG1_000016" "g.71189266G>C" "" "" "" "COG1(NM_018714.2):c.58G>C (p.(Ala20Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73193127G>C" "" "likely benign" "" "0000562926" "0" "50" "17" "71189295" "71189295" "subst" "0.000134544" "01943" "COG1_000017" "g.71189295G>C" "" "" "" "COG1(NM_018714.2):c.87G>C (p.E29D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73193156G>C" "" "VUS" "" "0000562927" "0" "30" "17" "71193525" "71193525" "subst" "0.00563021" "02325" "COG1_000018" "g.71193525G>C" "" "" "" "COG1(NM_018714.2):c.903G>C (p.(Gln301His)), COG1(NM_018714.3):c.903G>C (p.Q301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73197386G>C" "" "likely benign" "" "0000562928" "0" "30" "17" "71196139" "71196139" "subst" "0.00527781" "01804" "COG1_000001" "g.71196139C>T" "" "" "" "COG1(NM_018714.2):c.1049C>T (p.(Thr350Met)), COG1(NM_018714.3):c.1049C>T (p.T350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73200000C>T" "" "likely benign" "" "0000562930" "0" "10" "17" "71197748" "71197748" "subst" "0.521622" "02325" "COG1_000020" "g.71197748G>A" "" "" "" "COG1(NM_018714.3):c.1782G>A (p.E594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73201609G>A" "" "benign" "" "0000562932" "0" "30" "17" "71201807" "71201807" "subst" "0" "01943" "COG1_000022" "g.71201807A>C" "" "" "" "COG1(NM_018714.2):c.2498A>C (p.K833T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73205668A>C" "" "likely benign" "" "0000623753" "0" "50" "17" "71189242" "71189242" "subst" "0.000826105" "01943" "COG1_000023" "g.71189242C>T" "" "" "" "COG1(NM_018714.2):c.34C>T (p.R12W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73193103C>T" "" "VUS" "" "0000649687" "1" "50" "17" "71189266" "71189266" "subst" "0.0110929" "03575" "COG1_000016" "g.71189266G>C" "17/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous; {DB:CLININrs142719529}" "Germline" "" "rs142719529" "0" "" "" "g.73193127G>C" "" "VUS" "" "0000649688" "1" "30" "17" "71193525" "71193525" "subst" "0.00563021" "03575" "COG1_000018" "g.71193525G>C" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs117208167}" "Germline" "" "rs117208167" "0" "" "" "g.73197386G>C" "" "likely benign" "" "0000649689" "1" "10" "17" "71196139" "71196139" "subst" "0.00527781" "03575" "COG1_000001" "g.71196139C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs117344829}" "Germline" "" "rs117344829" "0" "" "" "g.73200000C>T" "" "benign" "" "0000658240" "0" "30" "17" "71199854" "71199854" "subst" "0.00121413" "01943" "COG1_000024" "g.71199854A>G" "" "" "" "COG1(NM_018714.2):c.2304A>G (p.T768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73203715A>G" "" "likely benign" "" "0000658241" "0" "30" "17" "71202836" "71202837" "del" "4.47027E-5" "01943" "COG1_000025" "g.71202836_71202837del" "" "" "" "COG1(NM_018714.2):c.2620-11_2620-10delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73206697_73206698del" "" "likely benign" "" "0000658242" "0" "30" "17" "71204547" "71204547" "subst" "0.000504008" "01943" "COG1_000026" "g.71204547C>G" "" "" "" "COG1(NM_018714.2):c.2900C>G (p.P967R, p.(Pro967Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73208408C>G" "" "likely benign" "" "0000669416" "3" "50" "17" "71189266" "71189266" "subst" "0.0110929" "03575" "COG1_000016" "g.71189266G>C" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs142719529}" "Germline" "" "rs142719529" "0" "" "" "g.73193127G>C" "" "VUS" "" "0000692453" "0" "50" "17" "71189371" "71189371" "subst" "1.73668E-5" "01943" "COG1_000027" "g.71189371C>T" "" "" "" "COG1(NM_018714.2):c.163C>T (p.R55W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726649" "0" "70" "17" "71189209" "71189209" "subst" "1.68444E-5" "01943" "COG1_000028" "g.71189209A>G" "" "" "" "COG1(NM_018714.2):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726650" "0" "50" "17" "71197990" "71197992" "del" "0" "01804" "COG1_000029" "g.71197990_71197992del" "" "" "" "COG1(NM_018714.2):c.2024_2026del (p.(Leu675del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726651" "0" "90" "17" "71202892" "71202892" "dup" "0" "02329" "COG1_000030" "g.71202892dup" "" "" "" "COG1(NM_018714.3):c.2665dupC (p.R889Pfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808235" "0" "30" "17" "71189473" "71189473" "subst" "4.67785E-5" "01804" "COG1_000031" "g.71189473C>T" "" "" "" "COG1(NM_018714.2):c.265C>T (p.(Arg89Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808236" "0" "30" "17" "71192731" "71192731" "subst" "0.000337034" "01804" "COG1_000032" "g.71192731C>T" "" "" "" "COG1(NM_018714.2):c.401C>T (p.(Ser134Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808237" "0" "50" "17" "71192766" "71192766" "subst" "0" "01943" "COG1_000033" "g.71192766C>T" "" "" "" "COG1(NM_018714.2):c.436C>T (p.L146F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808238" "0" "50" "17" "71192866" "71192866" "subst" "0" "01804" "COG1_000034" "g.71192866A>G" "" "" "" "COG1(NM_018714.2):c.536A>G (p.(Gln179Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808239" "0" "50" "17" "71196808" "71196809" "ins" "0" "01943" "COG1_000035" "g.71196808_71196809insGT" "" "" "" "COG1(NM_018714.2):c.1174_1175insGT (p.N392Sfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808240" "0" "30" "17" "71197829" "71197829" "subst" "0" "01943" "COG1_000036" "g.71197829G>T" "" "" "" "COG1(NM_018714.2):c.1863G>T (p.L621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855078" "0" "30" "17" "71197678" "71197678" "subst" "0.0039491" "01804" "COG1_000038" "g.71197678G>A" "" "" "" "COG1(NM_018714.2):c.1712G>A (p.(Arg571Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855079" "0" "70" "17" "71199271" "71199271" "subst" "0" "01943" "COG1_000039" "g.71199271C>T" "" "" "" "COG1(NM_018714.2):c.2206C>T (p.R736*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865480" "0" "30" "17" "71193525" "71193525" "subst" "0.00563021" "01804" "COG1_000018" "g.71193525G>C" "" "" "" "COG1(NM_018714.2):c.903G>C (p.(Gln301His)), COG1(NM_018714.3):c.903G>C (p.Q301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865481" "0" "50" "17" "71197677" "71197677" "subst" "4.87547E-5" "01943" "COG1_000037" "g.71197677C>T" "" "" "" "COG1(NM_018714.2):c.1711C>T (p.R571W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894231" "0" "30" "17" "71199781" "71199781" "subst" "0.00103138" "01804" "COG1_000040" "g.71199781A>G" "" "" "" "COG1(NM_018714.2):c.2231A>G (p.(Tyr744Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894232" "0" "70" "17" "71203354" "71203354" "subst" "8.1215E-6" "01804" "COG1_000041" "g.71203354C>T" "" "" "" "COG1(NM_018714.2):c.2764C>T (p.(Arg922*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894233" "0" "30" "17" "71204547" "71204547" "subst" "0.000504008" "01804" "COG1_000026" "g.71204547C>G" "" "" "" "COG1(NM_018714.2):c.2900C>G (p.P967R, p.(Pro967Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914962" "0" "30" "17" "71199822" "71199822" "subst" "1.21819E-5" "01804" "COG1_000042" "g.71199822C>G" "" "" "" "COG1(NM_018714.2):c.2272C>G (p.(Arg758Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951028" "0" "30" "17" "71204484" "71204484" "subst" "4.06141E-6" "01804" "COG1_000043" "g.71204484A>G" "" "" "" "COG1(NM_018714.2):c.2837A>G (p.(Asp946Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952312" "3" "50" "17" "71196126" "71196126" "subst" "0" "00006" "COG1_000044" "g.71196126T>C" "" "{PMID:Chatron 2020:32282878}" "" "NM_018714:c.1036T>C" "" "Germline" "" "" "0" "" "" "g.73199987T>C" "" "VUS" "" "0000952317" "3" "50" "17" "71196126" "71196126" "subst" "0" "00006" "COG1_000044" "g.71196126T>C" "" "{PMID:Chatron 2020:32282878}" "" "NM_018714:c.1036T>C" "" "Germline" "" "" "0" "" "" "g.73199987T>C" "" "VUS" "" "0000982756" "0" "50" "17" "71189365" "71189365" "subst" "0" "01804" "COG1_000045" "g.71189365G>A" "" "" "" "COG1(NM_018714.3):c.157G>A (p.(Gly53Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982757" "0" "50" "17" "71192890" "71192890" "subst" "8.13101E-6" "02325" "COG1_000046" "g.71192890G>A" "" "" "" "COG1(NM_018714.3):c.560G>A (p.R187Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982758" "0" "50" "17" "71196022" "71196022" "subst" "0" "01804" "COG1_000047" "g.71196022T>G" "" "" "" "COG1(NM_018714.3):c.932T>G (p.(Leu311Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982759" "0" "50" "17" "71197813" "71197814" "del" "0" "01804" "COG1_000048" "g.71197813_71197814del" "" "" "" "COG1(NM_018714.3):c.1847_1848del (p.(Arg616Thrfs*31))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982760" "0" "50" "17" "71202345" "71202345" "subst" "0" "01804" "COG1_000049" "g.71202345G>T" "" "" "" "COG1(NM_018714.3):c.2563G>T (p.(Asp855Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982761" "0" "50" "17" "71202955" "71202955" "subst" "4.06184E-6" "01804" "COG1_000050" "g.71202955A>C" "" "" "" "COG1(NM_018714.3):c.2728A>C (p.(Arg910=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042145" "0" "50" "17" "71196786" "71196786" "subst" "1.21819E-5" "01804" "COG1_000051" "g.71196786C>G" "" "" "" "COG1(NM_018714.3):c.1152C>G (p.(Asp384Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042146" "0" "50" "17" "71197816" "71197816" "subst" "8.12348E-6" "01804" "COG1_000052" "g.71197816T>C" "" "" "" "COG1(NM_018714.3):c.1850T>C (p.(Leu617Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042147" "0" "50" "17" "71201800" "71201800" "subst" "4.06095E-6" "01804" "COG1_000053" "g.71201800C>T" "" "" "" "COG1(NM_018714.3):c.2491C>T (p.(Arg831Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042148" "0" "30" "17" "71202288" "71202288" "subst" "0.000150266" "01804" "COG1_000054" "g.71202288C>G" "" "" "" "COG1(NM_018714.3):c.2511-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066873" "0" "50" "17" "71232418" "71232418" "subst" "4.06812E-5" "01804" "chr17_011062" "g.71232418C>T" "" "" "" "C17orf80(NM_001351264.2):c.797C>T (p.(Thr266Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 COG1 ## Count = 62 "{{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}}" "0000079541" "00005446" "00" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Thr350Met)" "" "0000248701" "00005446" "10" "543" "0" "543" "0" "c.543A>G" "r.(?)" "p.(Ala181=)" "" "0000248864" "00005446" "10" "1175" "0" "1175" "0" "c.1175A>G" "r.(?)" "p.(Asn392Ser)" "" "0000253559" "00005446" "10" "529" "0" "529" "0" "c.529A>G" "r.(?)" "p.(Ile177Val)" "" "0000266870" "00005446" "30" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Thr350Met)" "" "0000266871" "00005446" "10" "2383" "-17" "2383" "-17" "c.2383-17T>C" "r.(=)" "p.(=)" "" "0000266872" "00005446" "10" "333" "0" "333" "0" "c.333G>A" "r.(?)" "p.(Gln111=)" "" "0000273753" "00005446" "10" "2620" "-10" "2620" "-10" "c.2620-10T>G" "r.(=)" "p.(=)" "" "0000273754" "00005446" "10" "775" "0" "775" "0" "c.775G>T" "r.(?)" "p.(Val259Leu)" "" "0000325572" "00005446" "50" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Glu210Lys)" "" "0000325574" "00005446" "30" "2287" "0" "2287" "0" "c.2287G>T" "r.(?)" "p.(Ala763Ser)" "" "0000325575" "00005446" "50" "2417" "0" "2417" "0" "c.2417C>T" "r.(?)" "p.(Ala806Val)" "" "0000325576" "00005446" "50" "2729" "3" "2729" "9" "c.2729+3_2729+9del" "r.spl?" "p.?" "" "0000325577" "00005446" "50" "4216" "0" "4216" "0" "c.*1273G>C" "r.(=)" "p.(=)" "" "0000325578" "00005446" "30" "7195" "0" "7195" "0" "c.*4252A>G" "r.(=)" "p.(=)" "" "0000346341" "00005446" "30" "2918" "0" "2918" "0" "c.2918G>A" "r.(?)" "p.(Gly973Asp)" "" "0000562925" "00005446" "30" "58" "0" "58" "0" "c.58G>C" "r.(?)" "p.(Ala20Pro)" "" "0000562926" "00005446" "50" "87" "0" "87" "0" "c.87G>C" "r.(?)" "p.(Glu29Asp)" "" "0000562927" "00005446" "30" "903" "0" "903" "0" "c.903G>C" "r.(?)" "p.(Gln301His)" "" "0000562928" "00005446" "30" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Thr350Met)" "" "0000562930" "00005446" "10" "1782" "0" "1782" "0" "c.1782G>A" "r.(?)" "p.(Glu594=)" "" "0000562932" "00005446" "30" "2498" "0" "2498" "0" "c.2498A>C" "r.(?)" "p.(Lys833Thr)" "" "0000623753" "00005446" "50" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Arg12Trp)" "" "0000649687" "00005446" "50" "58" "0" "58" "0" "c.58G>C" "r.(?)" "p.(Ala20Pro)" "" "0000649688" "00005446" "30" "903" "0" "903" "0" "c.903G>C" "r.(?)" "p.(Gln301His)" "" "0000649689" "00005446" "10" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Thr350Met)" "" "0000658240" "00005446" "30" "2304" "0" "2304" "0" "c.2304A>G" "r.(?)" "p.(Thr768=)" "" "0000658241" "00005446" "30" "2620" "-11" "2620" "-10" "c.2620-11_2620-10del" "r.(=)" "p.(=)" "" "0000658242" "00005446" "30" "2900" "0" "2900" "0" "c.2900C>G" "r.(?)" "p.(Pro967Arg)" "" "0000669416" "00005446" "50" "58" "0" "58" "0" "c.58G>C" "r.(?)" "p.(Ala20Pro)" "" "0000692453" "00005446" "50" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Arg55Trp)" "" "0000726649" "00005446" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000726650" "00005446" "50" "2024" "0" "2026" "0" "c.2024_2026del" "r.(?)" "p.(Leu675del)" "" "0000726651" "00005446" "90" "2665" "0" "2665" "0" "c.2665dup" "r.(?)" "p.(Arg889Profs*12)" "" "0000808235" "00005446" "30" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89Cys)" "" "0000808236" "00005446" "30" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Ser134Leu)" "" "0000808237" "00005446" "50" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Leu146Phe)" "" "0000808238" "00005446" "50" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Gln179Arg)" "" "0000808239" "00005446" "50" "1174" "0" "1175" "0" "c.1174_1175insGT" "r.(?)" "p.(Asn392Serfs*27)" "" "0000808240" "00005446" "30" "1863" "0" "1863" "0" "c.1863G>T" "r.(?)" "p.(Leu621=)" "" "0000855078" "00005446" "30" "1712" "0" "1712" "0" "c.1712G>A" "r.(?)" "p.(Arg571Gln)" "" "0000855079" "00005446" "70" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Arg736*)" "" "0000865480" "00005446" "30" "903" "0" "903" "0" "c.903G>C" "r.(?)" "p.(Gln301His)" "" "0000865481" "00005446" "50" "1711" "0" "1711" "0" "c.1711C>T" "r.(?)" "p.(Arg571Trp)" "" "0000894231" "00005446" "30" "2231" "0" "2231" "0" "c.2231A>G" "r.(?)" "p.(Tyr744Cys)" "" "0000894232" "00005446" "70" "2764" "0" "2764" "0" "c.2764C>T" "r.(?)" "p.(Arg922*)" "" "0000894233" "00005446" "30" "2900" "0" "2900" "0" "c.2900C>G" "r.(?)" "p.(Pro967Arg)" "" "0000914962" "00005446" "30" "2272" "0" "2272" "0" "c.2272C>G" "r.(?)" "p.(Arg758Gly)" "" "0000951028" "00005446" "30" "2837" "0" "2837" "0" "c.2837A>G" "r.(?)" "p.(Asp946Gly)" "" "0000952312" "00005446" "50" "1036" "0" "1036" "0" "c.1036T>C" "r.(?)" "p.(Tyr346His)" "" "0000952317" "00005446" "50" "1036" "0" "1036" "0" "c.1036T>C" "r.(?)" "p.(Tyr346His)" "" "0000982756" "00005446" "50" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Gly53Ser)" "" "0000982757" "00005446" "50" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187Gln)" "" "0000982758" "00005446" "50" "932" "0" "932" "0" "c.932T>G" "r.(?)" "p.(Leu311Arg)" "" "0000982759" "00005446" "50" "1847" "0" "1848" "0" "c.1847_1848del" "r.(?)" "p.(Arg616Thrfs*31)" "" "0000982760" "00005446" "50" "2563" "0" "2563" "0" "c.2563G>T" "r.(?)" "p.(Asp855Tyr)" "" "0000982761" "00005446" "50" "2728" "0" "2728" "0" "c.2728A>C" "r.(?)" "p.(=)" "" "0001042145" "00005446" "50" "1152" "0" "1152" "0" "c.1152C>G" "r.(?)" "p.(Asp384Glu)" "" "0001042146" "00005446" "50" "1850" "0" "1850" "0" "c.1850T>C" "r.(?)" "p.(Leu617Pro)" "" "0001042147" "00005446" "50" "2491" "0" "2491" "0" "c.2491C>T" "r.(?)" "p.(Arg831Trp)" "" "0001042148" "00005446" "30" "2511" "-5" "2511" "-5" "c.2511-5C>G" "r.spl?" "p.?" "" "0001066873" "00005446" "50" "30771" "0" "30771" "0" "c.*27828C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000050561" "0000079541" "0000292998" "0000649687" "0000292999" "0000649688" "0000293000" "0000649689" "0000305728" "0000669416" "0000445372" "0000952312" "0000445373" "0000952317"