### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COX10) # 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}}" "{{allow_index_wiki}}" "{{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}}" "{{iNote}}" "COX10" "cytochrome c oxidase assembly homolog 10 (yeast)" "17" "p12" "unknown" "NC_000017.10" "UD_132118250727" "" "" "" "1" "1" "2260" "1352" "602125" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "{{iNote}}" "{{chrom}}" "00000076" "COX10" "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)" "001" "NM_001303.3" "" "NP_001294.2" "" "" "" "-204" "2798" "1332" "13972719" "14111996" "00001" "2013-11-07 13:46:38" "" "" "" "17" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00012" "220110" "Mitochondrial complex IV deficiency, 220110 (3)" "220110" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COX10" "00012" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 69 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000713" "0" "99" "17" "14005522" "14005522" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-27 12:56:05" "COX10_000001" "g.14005522C>A" "" "{PMID:12928484:12928484}" "" "rs104894555" "subst" "0" "; clinVar; Ensembl;" "5.260" "" "" "" "" "MSCV_0000713" "" "0000000714" "0" "99" "17" "14005547" "14005547" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:06:18" "COX10_000002" "g.14005547C>A" "" "{PMID:10767350:10767350}" "" "rs104894560" "subst" "0" "; clinVar; Ensembl;" "5.130" "" "" "" "" "MSCV_0000714" "" "0000000715" "0" "99" "17" "14063243" "14063243" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-04-29 02:21:33" "COX10_000003" "g.14063243C>T" "" "{PMID:12928484:12928484}" "" "rs104894556" "subst" "0" "; clinVar; Ensembl;" "4.970" "" "" "" "" "MSCV_0000715" "" "0000002616" "0" "99" "17" "14110205" "14110205" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:58:29" "COX10_000004" "g.14110205A>G" "" "{PMID:12928484:12928484}" "" "rs104894557" "subst" "0" "; clinvar; ensembl;" "4.960" "" "" "" "" "MSCV_0002616" "" "0000002617" "0" "99" "17" "14110205" "14110205" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-08-27 12:56:19" "COX10_000005" "g.14110205A>T" "" "{PMID:12928484:12928484}" "" "rs104894557" "subst" "0" "; clinvar; ensembl;" "4.960" "" "" "" "" "MSCV_0002617" "" "0000018253" "0" "55" "17" "13972753" "13972753" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-18 15:23:25" "COX10_000055" "g.13972753C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018253" "" "0000018254" "0" "11" "17" "13972811" "13972811" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:22:44" "COX10_000056" "g.13972811G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018254" "" "0000018255" "0" "33" "17" "13972814" "13972814" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:22:45" "COX10_000057" "g.13972814G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018255" "" "0000018256" "0" "55" "17" "13972833" "13972833" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:22:46" "COX10_000058" "g.13972833G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018256" "" "0000018257" "0" "55" "17" "13972860" "13972860" "subst" "35" "0.0243101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:18" "COX10_000048" "g.13972860C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018257" "" "0000018258" "0" "55" "17" "13972883" "13972883" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:19" "COX10_000049" "g.13972883G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018258" "" "0000018259" "0" "55" "17" "13972894" "13972894" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:21" "COX10_000050" "g.13972894C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018259" "" "0000018260" "0" "55" "17" "13972899" "13972899" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:24" "COX10_000051" "g.13972899G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018260" "" "0000018261" "0" "99" "17" "13972924" "13972924" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:26" "COX10_000052" "g.13972924T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018261" "" "0000018262" "0" "33" "17" "13972955" "13972955" "subst" "35" "0.0482854" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:27" "COX10_000053" "g.13972955C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018262" "" "0000018263" "0" "55" "17" "13977660" "13977660" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:29" "COX10_000054" "g.13977660T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018263" "" "0000018264" "0" "33" "17" "13977679" "13977679" "subst" "35" "0.0219899" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:33" "COX10_000041" "g.13977679C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018264" "" "0000018265" "0" "55" "17" "13977719" "13977719" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-20 21:58:37" "COX10_000042" "g.13977719G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018265" "" "0000018266" "0" "55" "17" "13977769" "13977769" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:37" "COX10_000043" "g.13977769G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018266" "" "0000018267" "0" "33" "17" "13980058" "13980058" "subst" "35" "0.0499" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:38" "COX10_000044" "g.13980058A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018267" "" "0000018268" "0" "55" "17" "13980066" "13980066" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:39" "COX10_000045" "g.13980066G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018268" "" "0000018269" "0" "33" "17" "13980164" "13980164" "subst" "35" "0.0219899" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:40" "COX10_000046" "g.13980164A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018269" "" "0000018270" "0" "11" "17" "13980350" "13980350" "subst" "35" "0.490389" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:42" "COX10_000047" "g.13980350G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018270" "" "0000018271" "0" "11" "17" "14005439" "14005439" "subst" "35" "0.555513" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:22" "COX10_000040" "g.14005439G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018271" "" "0000018272" "0" "55" "17" "14005478" "14005478" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:56" "COX10_000006" "g.14005478G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018272" "" "0000018273" "0" "99" "17" "14005522" "14005522" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:58" "COX10_000001" "g.14005522C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000713" "" "0000018274" "0" "99" "17" "14005547" "14005547" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:59" "COX10_000002" "g.14005547C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000714" "" "0000018275" "0" "55" "17" "14005563" "14005563" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:00" "COX10_000007" "g.14005563A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018275" "" "0000018276" "0" "99" "17" "14063243" "14063243" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:02" "COX10_000003" "g.14063243C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000715" "" "0000018277" "0" "11" "17" "14095309" "14095309" "subst" "35" "0.553437" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:03" "COX10_000008" "g.14095309A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018277" "" "0000018278" "0" "55" "17" "14095519" "14095519" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:04" "COX10_000009" "g.14095519C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018278" "" "0000018279" "0" "33" "17" "14095550" "14095550" "subst" "35" "0.146702" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:06" "COX10_000010" "g.14095550G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018279" "" "0000018280" "0" "00" "17" "14110115" "14110116" "ins" "35" "0.0638281" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:37:00" "COX10_000059" "g.14110115_14110116insCCC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018280" "" "0000018281" "0" "77" "17" "14110120" "14110120" "subst" "35" "0.00276795" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:37:01" "COX10_000060" "g.14110120C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018281" "" "0000018282" "0" "77" "17" "14110179" "14110179" "subst" "35" "0.00107643" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:49:45" "COX10_000036" "g.14110179C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018282" "" "0000018283" "0" "99" "17" "14110205" "14110205" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:49:46" "COX10_000005" "g.14110205A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002617" "" "0000018284" "0" "99" "17" "14110205" "14110205" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:49:48" "COX10_000004" "g.14110205A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002616" "" "0000018285" "0" "33" "17" "14110236" "14110236" "subst" "35" "0.0306013" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:49:49" "COX10_000037" "g.14110236G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018285" "" "0000018286" "0" "55" "17" "14110543" "14110543" "subst" "35" "0.000235849" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:49:50" "COX10_000038" "g.14110543G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018286" "" "0000018287" "0" "00" "17" "14110669" "14110670" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:43" "COX10_000011" "g.14110669_14110670del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018287" "" "0000018288" "0" "00" "17" "14110669" "14110671" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:44" "COX10_000012" "g.14110669_14110671del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018288" "" "0000018289" "0" "55" "17" "14110682" "14110682" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:45" "COX10_000013" "g.14110682T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018289" "" "0000018290" "0" "33" "17" "14110827" "14110827" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:47" "COX10_000014" "g.14110827G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018290" "" "0000018291" "0" "11" "17" "14110852" "14110852" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:48" "COX10_000015" "g.14110852T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018291" "" "0000018292" "0" "11" "17" "14110901" "14110901" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:49" "COX10_000016" "g.14110901A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018292" "" "0000018293" "0" "55" "17" "14110938" "14110938" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:51" "COX10_000017" "g.14110938G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018293" "" "0000018294" "0" "33" "17" "14110968" "14110968" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:52" "COX10_000018" "g.14110968G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018294" "" "0000018295" "0" "55" "17" "14111065" "14111065" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:53" "COX10_000019" "g.14111065C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018295" "" "0000018296" "0" "00" "17" "14111093" "14111094" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:55" "COX10_000020" "g.14111093_14111094insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018296" "" "0000018297" "0" "00" "17" "14111121" "14111122" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:56" "COX10_000021" "g.14111121_14111122del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018297" "" "0000018298" "0" "55" "17" "14111158" "14111158" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:58" "COX10_000022" "g.14111158C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018298" "" "0000018299" "0" "11" "17" "14111176" "14111176" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:05" "COX10_000023" "g.14111176C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018299" "" "0000018300" "0" "11" "17" "14111176" "14111176" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:07" "COX10_000024" "g.14111176C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018300" "" "0000018301" "0" "55" "17" "14111269" "14111269" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:09" "COX10_000025" "g.14111269A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018301" "" "0000018302" "0" "11" "17" "14111287" "14111287" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:10" "COX10_000026" "g.14111287T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018302" "" "0000018303" "0" "55" "17" "14111353" "14111353" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:12" "COX10_000027" "g.14111353C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018303" "" "0000018304" "0" "00" "17" "14111361" "14111362" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:14" "COX10_000028" "g.14111361_14111362del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018304" "" "0000018305" "0" "33" "17" "14111504" "14111504" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:15" "COX10_000029" "g.14111504C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018305" "" "0000018306" "0" "11" "17" "14111606" "14111606" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:18" "COX10_000030" "g.14111606T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018306" "" "0000018307" "0" "33" "17" "14111608" "14111608" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:39" "COX10_000031" "g.14111608C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018307" "" "0000018308" "0" "33" "17" "14111631" "14111631" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:41" "COX10_000032" "g.14111631C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018308" "" "0000018309" "0" "33" "17" "14111854" "14111854" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:42" "COX10_000033" "g.14111854C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018309" "" "0000018310" "0" "55" "17" "14111897" "14111897" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:44" "COX10_000034" "g.14111897G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018310" "" "0000018311" "0" "33" "17" "14111915" "14111915" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:32:46" "COX10_000035" "g.14111915C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018311" "" "0000018312" "0" "00" "17" "14111989" "14111989" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:49:51" "COX10_000039" "g.14111989del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018312" "" "0000025501" "0" "00" "17" "13980185" "13980185" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:13:39" "COX10_000064" "g.13980185C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025502" "0" "00" "17" "14110180" "14110180" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:47:04" "COX10_000061" "g.14110180G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025503" "0" "00" "17" "14110225" "14110225" "subst" "35" "0.000384438" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:47:11" "COX10_000062" "g.14110225T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025504" "0" "00" "17" "14110259" "14110259" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:47:19" "COX10_000063" "g.14110259G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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. ## Count = 69 "{{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}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000713" "00000076" "99" "587" "0" "587" "0" "c.587C>A" "4/7" "p.(Thr196Lys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000714" "00000076" "99" "612" "0" "612" "0" "c.612C>A" "4/7" "p.(Asn204Lys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000715" "00000076" "99" "674" "0" "674" "0" "c.674C>T" "5/7" "p.(Pro225Leu)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "tolerated(0.68)" "0000002616" "00000076" "99" "1007" "0" "1007" "0" "c.1007A>G" "7/7" "p.(Asp336Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002617" "00000076" "99" "1007" "0" "1007" "0" "c.1007A>T" "7/7" "p.(Asp336Val)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000018253" "00000076" "00" "-170" "0" "-170" "0" "c.-170C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018254" "00000076" "00" "-112" "0" "-112" "0" "c.-112G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018255" "00000076" "00" "-109" "0" "-109" "0" "c.-109G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018256" "00000076" "00" "-90" "0" "-90" "0" "c.-90G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018257" "00000076" "00" "-63" "0" "-63" "0" "c.-63C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018258" "00000076" "00" "-40" "0" "-40" "0" "c.-40G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018259" "00000076" "00" "-29" "0" "-29" "0" "c.-29C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018260" "00000076" "00" "-24" "0" "-24" "0" "c.-24G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018261" "00000076" "00" "2" "0" "2" "0" "c.2T>C" "" "p.?" "r.?" "" "" "" "" "" "-" "0000018262" "00000076" "00" "33" "0" "33" "0" "c.33C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018263" "00000076" "00" "64" "0" "64" "0" "c.64T>A" "" "p.(Trp22Arg)" "r.(?)" "" "" "" "" "" "-" "0000018264" "00000076" "00" "83" "0" "83" "0" "c.83C>T" "" "p.(Thr28Ile)" "r.(?)" "" "" "" "" "" "-" "0000018265" "00000076" "00" "123" "0" "123" "0" "c.123G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018266" "00000076" "00" "173" "0" "173" "0" "c.173G>A" "" "p.(Arg58His)" "r.(?)" "" "" "" "" "" "-" "0000018267" "00000076" "00" "184" "0" "184" "0" "c.184A>T" "" "p.(Thr62Ser)" "r.(?)" "" "" "" "" "" "-" "0000018268" "00000076" "00" "192" "0" "192" "0" "c.192G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018269" "00000076" "00" "290" "0" "290" "0" "c.290A>G" "" "p.(Tyr97Cys)" "r.(?)" "" "" "" "" "" "-" "0000018270" "00000076" "00" "476" "0" "476" "0" "c.476G>A" "" "p.(Arg159Gln)" "r.(?)" "" "" "" "" "" "-" "0000018271" "00000076" "00" "504" "0" "504" "0" "c.504G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018272" "00000076" "00" "543" "0" "543" "0" "c.543G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018273" "00000076" "00" "587" "0" "587" "0" "c.587C>A" "" "p.(Thr196Lys)" "r.(?)" "" "" "" "" "" "-" "0000018274" "00000076" "00" "612" "0" "612" "0" "c.612C>A" "" "p.(Asn204Lys)" "r.(?)" "" "" "" "" "" "-" "0000018275" "00000076" "00" "624" "4" "624" "4" "c.624+4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018276" "00000076" "00" "674" "0" "674" "0" "c.674C>T" "" "p.(Pro225Leu)" "r.(?)" "" "" "" "" "" "-" "0000018277" "00000076" "00" "699" "0" "699" "0" "c.699A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018278" "00000076" "00" "909" "0" "909" "0" "c.909C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018279" "00000076" "00" "928" "12" "928" "12" "c.928+12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018280" "00000076" "00" "929" "-12" "929" "-11" "c.929-12_929-11insCCC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018281" "00000076" "00" "929" "-7" "929" "-7" "c.929-7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018282" "00000076" "00" "981" "0" "981" "0" "c.981C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018283" "00000076" "00" "1007" "0" "1007" "0" "c.1007A>T" "" "p.(Asp336Val)" "r.(?)" "" "" "" "" "" "-" "0000018284" "00000076" "00" "1007" "0" "1007" "0" "c.1007A>G" "" "p.(Asp336Gly)" "r.(?)" "" "" "" "" "" "-" "0000018285" "00000076" "00" "1038" "0" "1038" "0" "c.1038G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018286" "00000076" "00" "1345" "0" "1345" "0" "c.*13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018287" "00000076" "00" "1471" "0" "1472" "0" "c.*139_*140del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018288" "00000076" "00" "1471" "0" "1473" "0" "c.*139_*141del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018289" "00000076" "00" "1484" "0" "1484" "0" "c.*152T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018290" "00000076" "00" "1629" "0" "1629" "0" "c.*297G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018291" "00000076" "00" "1654" "0" "1654" "0" "c.*322T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018292" "00000076" "00" "1703" "0" "1703" "0" "c.*371A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018293" "00000076" "00" "1740" "0" "1740" "0" "c.*408G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018294" "00000076" "00" "1770" "0" "1770" "0" "c.*438G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018295" "00000076" "00" "1867" "0" "1867" "0" "c.*535C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018296" "00000076" "00" "1895" "0" "1896" "0" "c.*563_*564insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018297" "00000076" "00" "1923" "0" "1924" "0" "c.*591_*592del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018298" "00000076" "00" "1960" "0" "1960" "0" "c.*628C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018299" "00000076" "00" "1978" "0" "1978" "0" "c.*646C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018300" "00000076" "00" "1978" "0" "1978" "0" "c.*646C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018301" "00000076" "00" "2071" "0" "2071" "0" "c.*739A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018302" "00000076" "00" "2089" "0" "2089" "0" "c.*757T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018303" "00000076" "00" "2155" "0" "2155" "0" "c.*823C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018304" "00000076" "00" "2163" "0" "2164" "0" "c.*831_*832del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018305" "00000076" "00" "2306" "0" "2306" "0" "c.*974C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018306" "00000076" "00" "2408" "0" "2408" "0" "c.*1076T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018307" "00000076" "00" "2410" "0" "2410" "0" "c.*1078C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018308" "00000076" "00" "2433" "0" "2433" "0" "c.*1101C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018309" "00000076" "00" "2656" "0" "2656" "0" "c.*1324C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018310" "00000076" "00" "2699" "0" "2699" "0" "c.*1367G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018311" "00000076" "00" "2717" "0" "2717" "0" "c.*1385C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018312" "00000076" "00" "2791" "0" "2791" "0" "c.*1459del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025501" "00000076" "00" "311" "0" "311" "0" "c.311C>T" "" "p.(Pro104Leu)" "r.(?)" "" "" "" "" "" "-" "0000025502" "00000076" "00" "982" "0" "982" "0" "c.982G>A" "" "p.(Ala328Thr)" "r.(?)" "" "" "" "" "" "-" "0000025503" "00000076" "00" "1027" "0" "1027" "0" "c.1027T>C" "" "p.(Cys343Arg)" "r.(?)" "" "" "" "" "" "-" "0000025504" "00000076" "00" "1061" "0" "1061" "0" "c.1061G>A" "" "p.(Arg354Gln)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0