### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CYP2C8)
# 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}}"
"CYP2C8" "cytochrome P450, family 2, subfamily C, polypeptide 8" "10" "q24.1" "unknown" "NG_007972.1" "UD_132085240393" "" "http://www.LOVD.nl/CYP2C8" "Human Cytochrome P450 (CYP) Allele Nomenclature Committee \r\nPharmGKB CYP2C8 " "1" "2622" "1558" "601129" "1" "1" "1" "1" "CYP2C8 reference haplotypes\r\nFunctional analysis variants" "" "g" "http://databases.lovd.nl/shared/refseq/CYP2C8_codingDNA.html" "1" "" "CYP2C8 reference haplotypes. Functional analysis variants" "-1" "" "-1" "00001" "2013-04-22 00:00:00" "00006" "2015-05-19 09:27:41" "00000" "2021-09-17 14:40:49"
## 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}}"
"00005999" "CYP2C8" "transcript variant 1" "001" "NM_000770.3" "" "NP_000761.3" "" "" "" "-95" "1829" "1473" "96829254" "96796529" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"04264" "DMBp" "metabolism, drug, poor" "" "" "" "" "" "00006" "2015-05-14 15:38:48" "00006" "2021-12-11 13:56:28"
"04271" "DMBup" "metabolism, drug, ultra-poor" "" "" "" "" "" "00006" "2015-05-14 16:04:51" "00006" "2021-12-11 13:56:28"
"06089" "-" "{Drug metabolism, altered, CYP2C8-related}" "" "618018" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"CYP2C8" "06089"
## Individuals ## Do not remove or alter this header ##
## Count = 77
"{{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}}"
"00038567" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038568" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038569" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038570" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038571" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038572" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038573" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038574" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038575" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038576" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038577" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038578" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038579" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038580" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038581" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038582" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038584" "" "" "" "1" "" "00006" "{PMID:Bahadur 2002:12429347}" "107 control individuals" "-" "-" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00038585" "" "" "" "1" "" "00006" "{PMID:Bahadur 2002:12429347}" "107 control individuals" "-" "-" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00038586" "" "" "" "1" "" "00006" "{PMID:Dai 2001:11668219}" "82 control individuals" "-" "-" "United States" "" "0" "" "" "African-American" ""
"00038587" "" "" "" "1" "" "00006" "{PMID:Dai 2001:11668219}" "170 control European individuals" "-" "-" "" "" "0" "" "" "European" ""
"00038588" "" "" "" "8" "" "00006" "{PMID:Bahadur 2002:12429347}" "100 control individuals" "-" "-" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00038589" "" "" "" "1" "" "00006" "{PMID:Soyama 2002:15618689}" "54 Japanese individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038590" "" "" "" "1" "" "00006" "{PMID:Hichiya 2005:15716363}" "201 Japanese individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038591" "" "" "" "1" "" "00006" "{PMID:Hichiya 2005:15716363}" "201 Japanese individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038592" "" "" "" "1" "" "00006" "{PMID:Hichiya 2005:15716363}" "201 Japanese individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038593" "" "" "" "1" "" "00006" "{PMID:Hichiya 2005:15716363}" "201 Japanese individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038594" "" "" "" "1" "" "00006" "{PMID:Hichiya 2005:15716363}" "201 Japanese individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038595" "" "" "" "3" "" "00006" "{PMID:Yeo 2011:21245287}" "447 Korean individuals" "-" "-" "Korea" "" "0" "" "" "" ""
"00038596" "" "" "" "1" "" "00006" "{PMID:Saito 2007:17558302}" "" "-" "-" "Japan" "" "0" "" "" "" ""
"00038597" "" "" "" "1" "" "00006" "{PMID:Nakajima 2006:16890579}" "235 individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038598" "" "" "" "1" "" "00006" "{PMID:Nakajima 2006:16890579}" "235 individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038599" "" "" "" "1" "" "00006" "{PMID:Hanioka 2010:20148860}" "" "-" "-" "" "" "0" "" "" "" ""
"00038600" "" "" "" "1" "" "00006" "{PMID:Hanioka 2010:20148860}" "" "-" "-" "" "" "0" "" "" "" ""
"00038601" "" "" "" "1" "" "00006" "{PMID:Gao 2010:20459297}" "" "-" "-" "" "" "0" "" "" "" ""
"00038602" "" "" "" "1" "" "00006" "{PMID:Jian 2011:20848147}" "" "-" "-" "" "" "0" "" "" "" ""
"00038603" "" "" "" "1" "" "00006" "{PMID:Gao 2010:20459297}" "" "-" "-" "" "" "0" "" "" "" ""
"00038604" "" "" "" "1" "" "00006" "{PMID:Gao 2010:20459297}" "" "-" "-" "" "" "0" "" "" "" ""
"00038605" "" "" "" "1" "" "00006" "{PMID:Bahadur 2002:12429347}" "107 control individuals" "-" "-" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00038606" "" "" "" "1" "" "00006" "{PMID:Bahadur 2002:12429347}" "116 control individuals" "-" "-" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00038607" "" "" "" "1" "" "00006" "{PMID:Bahadur 2002:12429347}" "116 control individuals" "-" "-" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00038608" "" "" "" "1" "" "00006" "{PMID:Dai 2001:11668219}" "82 control African-American individuals" "-" "-" "United States" "" "0" "" "" "African-American" ""
"00038609" "" "" "" "1" "" "00006" "{PMID:Dai 2001:11668219}" "" "-" "-" "" "" "0" "" "" "" ""
"00038610" "" "" "" "1" "" "00006" "{PMID:Dai 2001:11668219}" "" "-" "-" "" "" "0" "" "" "" ""
"00038611" "" "" "" "1" "" "00006" "{PMID:Dai 2001:11668219}" "" "-" "-" "" "" "0" "" "" "" ""
"00038612" "" "" "" "1" "" "00006" "{PMID:Gao 2010:20459297}" "" "-" "-" "" "" "0" "" "" "" ""
"00038613" "" "" "" "1" "" "00006" "{PMID:Gao 2010:20459297}" "" "-" "-" "" "" "0" "" "" "" ""
"00038614" "" "" "" "1" "" "00006" "{PMID:Soyama 2002:15618689}" "54 Japanese individuals" "" "-" "Japan" "" "0" "" "" "" ""
"00038615" "" "" "" "1" "" "00006" "{PMID:Soyama 2002:15618689}" "54 Japanese individuals" "" "-" "Japan" "" "0" "" "" "" ""
"00038616" "" "" "" "1" "" "00006" "{PMID:Soyama 2002:15618689}" "54 Japanese individuals" "" "-" "Japan" "" "0" "" "" "" ""
"00038617" "" "" "" "1" "" "00006" "{PMID:Soyama 2002:15618689}" "54 Japanese individuals" "" "-" "Japan" "" "0" "" "" "" ""
"00038618" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "348 individuals" "?" "?" "China" "" "0" "" "" "" ""
"00038619" "" "" "" "2" "" "00006" "{PMID:Yeo 2011:21245287}" "100 Vietnamese individuals" "-" "-" "Viet Nam" "" "0" "" "" "" ""
"00038620" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038621" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038622" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038623" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038624" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038625" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038626" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038627" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038628" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038629" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038630" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038631" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038632" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038633" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038634" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038635" "" "" "" "1" "" "00006" "{PMID:Yeo 2011:21245287}" "50 Korean individuals" "" "-" "Korea" "" "0" "" "" "" ""
"00038641" "" "" "" "1" "" "00006" "{PMID:Nakajima 2006:16890579}" "235 individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038642" "" "" "" "1" "" "00006" "{PMID:Nakajima 2006:16890579}" "235 individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038643" "" "" "" "1" "" "00006" "{PMID:Nakajima 2006:16890579}" "235 individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038644" "" "" "" "9" "" "00006" "{PMID:Nakajima 2006:16890579}" "235 individuals" "-" "-" "Japan" "" "0" "" "" "" ""
"00038664" "" "" "" "1" "" "00006" "{PMID:Soyama 2001:11767116}" "analysis 73 cell lines" "" "" "Japan" "" "0" "" "" "" ""
"00290184" "" "" "" "200" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290185" "" "" "" "68" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304273" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304274" "" "" "" "3" "" "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 = 77
"{{individualid}}" "{{diseaseid}}"
"00038567" "00000"
"00038568" "00000"
"00038569" "00000"
"00038570" "04264"
"00038571" "04264"
"00038572" "04264"
"00038573" "04271"
"00038574" "00000"
"00038575" "04271"
"00038576" "04264"
"00038577" "00000"
"00038578" "00000"
"00038579" "04271"
"00038580" "00000"
"00038581" "00000"
"00038582" "04264"
"00038584" "00000"
"00038585" "00000"
"00038586" "00000"
"00038587" "00000"
"00038588" "00000"
"00038589" "00000"
"00038590" "00000"
"00038591" "00000"
"00038592" "00000"
"00038593" "00000"
"00038594" "00000"
"00038595" "00000"
"00038596" "00000"
"00038597" "00000"
"00038598" "00000"
"00038599" "00000"
"00038600" "04264"
"00038601" "04264"
"00038602" "04264"
"00038603" "00198"
"00038604" "04264"
"00038605" "00000"
"00038606" "00000"
"00038607" "00000"
"00038608" "00000"
"00038609" "04271"
"00038610" "00000"
"00038611" "00000"
"00038612" "00000"
"00038613" "00000"
"00038614" "00000"
"00038615" "00000"
"00038616" "00000"
"00038617" "00000"
"00038618" "00000"
"00038619" "00000"
"00038620" "00000"
"00038621" "00000"
"00038622" "00000"
"00038623" "00000"
"00038624" "00000"
"00038625" "00000"
"00038626" "00000"
"00038627" "00000"
"00038628" "00000"
"00038629" "00000"
"00038630" "00000"
"00038631" "00000"
"00038632" "00000"
"00038633" "00000"
"00038634" "00000"
"00038635" "00000"
"00038641" "00000"
"00038642" "00000"
"00038643" "00000"
"00038644" "00000"
"00038664" "00000"
"00290184" "00198"
"00290185" "00198"
"00304273" "00198"
"00304274" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04264, 04271, 06089
## Count = 2
"{{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}}"
"0000029042" "04264" "00038601" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000029043" "04264" "00038604" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 77
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000038799" "00038567" "1" "01294" "00006" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038800" "00038568" "1" "01294" "00006" "2013-05-13 16:45:04" "" "" "SEQ" "DNA" "" ""
"0000038801" "00038569" "1" "01294" "00006" "2013-05-13 16:45:05" "" "" "SEQ" "DNA" "" ""
"0000038802" "00038570" "1" "01294" "00006" "2013-05-13 16:45:06" "" "" "SEQ" "DNA" "" ""
"0000038803" "00038571" "1" "01294" "00006" "2013-05-13 16:45:07" "" "" "SEQ" "DNA" "" ""
"0000038804" "00038572" "1" "01294" "00006" "2013-05-13 16:45:08" "" "" "SEQ" "DNA" "" ""
"0000038805" "00038573" "1" "01294" "00006" "2013-05-13 16:45:09" "" "" "SEQ" "DNA" "" ""
"0000038806" "00038574" "1" "01294" "00006" "2013-05-13 16:45:10" "" "" "SEQ" "DNA" "" ""
"0000038807" "00038575" "1" "01294" "00006" "2013-05-13 16:45:11" "" "" "SEQ" "DNA" "" ""
"0000038808" "00038576" "1" "01294" "00006" "2013-05-13 16:45:12" "" "" "SEQ" "DNA" "" ""
"0000038809" "00038577" "1" "01294" "00006" "2013-05-13 16:45:13" "" "" "SEQ" "DNA" "" ""
"0000038810" "00038578" "1" "01294" "00006" "2013-05-13 16:45:14" "" "" "SEQ" "DNA" "" ""
"0000038811" "00038579" "1" "01294" "00006" "2013-05-13 16:45:15" "" "" "SEQ" "DNA" "" ""
"0000038812" "00038580" "1" "01294" "00006" "2013-05-13 16:45:16" "" "" "SEQ" "DNA" "" ""
"0000038813" "00038581" "1" "01294" "00006" "2013-05-13 16:45:17" "" "" "SEQ" "DNA" "" ""
"0000038814" "00038582" "1" "01294" "00006" "2013-05-13 16:45:18" "" "" "SEQ" "DNA" "" ""
"0000038816" "00038584" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SSCA;SEQ" "DNA" "" ""
"0000038817" "00038585" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SSCA;SEQ" "DNA" "" ""
"0000038818" "00038586" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038819" "00038587" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038820" "00038588" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SSCA;SEQ" "DNA" "" ""
"0000038821" "00038589" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038822" "00038590" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038823" "00038591" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038824" "00038592" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038825" "00038593" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038826" "00038594" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038827" "00038595" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038828" "00038596" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038829" "00038597" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038830" "00038598" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038831" "00038599" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038832" "00038600" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038833" "00038601" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038834" "00038602" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038835" "00038603" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038836" "00038604" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038837" "00038605" "1" "00006" "00006" "2015-05-18 10:08:55" "" "" "SEQ;SSCA" "DNA" "" ""
"0000038838" "00038606" "1" "00006" "00006" "2015-05-18 10:32:46" "" "" "SEQ;SSCA" "DNA" "" ""
"0000038839" "00038607" "1" "00006" "00006" "2015-05-18 10:39:29" "" "" "SEQ;SSCA" "DNA" "" ""
"0000038840" "00038608" "1" "00006" "00006" "2015-05-18 11:24:39" "" "" "SEQ" "DNA" "" ""
"0000038841" "00038609" "1" "00006" "00006" "2015-05-18 11:41:25" "" "" "SEQ" "DNA" "" ""
"0000038842" "00038610" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038843" "00038611" "1" "00006" "00008" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038844" "00038612" "1" "00006" "00006" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038845" "00038613" "1" "00006" "00006" "2013-05-13 16:45:03" "" "" "SEQ" "DNA" "" ""
"0000038848" "00038616" "1" "00006" "00006" "2015-05-18 13:50:35" "" "" "SEQ" "DNA" "" ""
"0000038849" "00038617" "1" "00006" "00006" "2015-05-18 13:50:35" "" "" "SEQ" "DNA" "" ""
"0000038850" "00038615" "1" "00006" "00006" "2015-05-18 14:01:42" "" "" "SEQ" "DNA" "" ""
"0000038851" "00038614" "1" "00006" "00006" "2015-05-18 14:05:52" "" "" "SEQ" "DNA" "" ""
"0000038852" "00038618" "1" "00006" "00006" "2015-05-18 15:25:19" "" "" "SEQ" "DNA" "" ""
"0000038853" "00038619" "1" "00006" "00006" "2015-05-18 15:30:10" "" "" "SEQ" "DNA" "" ""
"0000038854" "00038620" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038855" "00038621" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038856" "00038622" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038857" "00038623" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038858" "00038624" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038859" "00038625" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038860" "00038626" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038861" "00038627" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038862" "00038628" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038863" "00038629" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038864" "00038630" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038865" "00038631" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038866" "00038632" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038867" "00038633" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038868" "00038634" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038869" "00038635" "1" "00006" "00006" "2015-05-18 16:38:51" "" "" "SEQ" "DNA" "" ""
"0000038877" "00038641" "1" "00006" "00006" "2015-05-19 08:53:23" "" "" "SEQ" "DNA" "" ""
"0000038878" "00038642" "1" "00006" "00006" "2015-05-19 08:53:23" "" "" "SEQ" "DNA" "" ""
"0000038879" "00038643" "1" "00006" "00006" "2015-05-19 08:53:23" "" "" "SEQ" "DNA" "" ""
"0000038880" "00038644" "1" "00006" "00006" "2015-05-19 08:53:23" "" "" "SEQ" "DNA" "" ""
"0000038900" "00038664" "1" "00006" "00006" "2015-05-21 13:40:14" "" "" "SEQ" "DNA" "" ""
"0000291352" "00290184" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291353" "00290185" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305402" "00304273" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305403" "00304274" "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 = 73
"{{screeningid}}" "{{geneid}}"
"0000038799" "CYP2C8"
"0000038800" "CYP2C8"
"0000038801" "CYP2C8"
"0000038802" "CYP2C8"
"0000038803" "CYP2C8"
"0000038804" "CYP2C8"
"0000038805" "CYP2C8"
"0000038806" "CYP2C8"
"0000038807" "CYP2C8"
"0000038808" "CYP2C8"
"0000038809" "CYP2C8"
"0000038810" "CYP2C8"
"0000038811" "CYP2C8"
"0000038812" "CYP2C8"
"0000038813" "CYP2C8"
"0000038814" "CYP2C8"
"0000038816" "CYP2C8"
"0000038817" "CYP2C8"
"0000038818" "CYP2C8"
"0000038819" "CYP2C8"
"0000038820" "CYP2C8"
"0000038821" "CYP2C8"
"0000038822" "CYP2C8"
"0000038823" "CYP2C8"
"0000038824" "CYP2C8"
"0000038825" "CYP2C8"
"0000038826" "CYP2C8"
"0000038827" "CYP2C8"
"0000038828" "CYP2C8"
"0000038829" "CYP2C8"
"0000038830" "CYP2C8"
"0000038831" "CYP2C8"
"0000038832" "CYP2C8"
"0000038833" "CYP2C8"
"0000038834" "CYP2C8"
"0000038835" "CYP2C8"
"0000038836" "CYP2C8"
"0000038837" "CYP2C8"
"0000038838" "CYP2C8"
"0000038839" "CYP2C8"
"0000038840" "CYP2C8"
"0000038841" "CYP2C8"
"0000038842" "CYP2C8"
"0000038843" "CYP2C8"
"0000038844" "CYP2C8"
"0000038845" "CYP2C8"
"0000038848" "CYP2C8"
"0000038849" "CYP2C8"
"0000038850" "CYP2C8"
"0000038851" "CYP2C8"
"0000038852" "CYP2C8"
"0000038853" "CYP2C8"
"0000038854" "CYP2C8"
"0000038855" "CYP2C8"
"0000038856" "CYP2C8"
"0000038857" "CYP2C8"
"0000038858" "CYP2C8"
"0000038859" "CYP2C8"
"0000038860" "CYP2C8"
"0000038861" "CYP2C8"
"0000038862" "CYP2C8"
"0000038863" "CYP2C8"
"0000038864" "CYP2C8"
"0000038865" "CYP2C8"
"0000038866" "CYP2C8"
"0000038867" "CYP2C8"
"0000038868" "CYP2C8"
"0000038869" "CYP2C8"
"0000038877" "CYP2C8"
"0000038878" "CYP2C8"
"0000038879" "CYP2C8"
"0000038880" "CYP2C8"
"0000038900" "CYP2C8"
## 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 = 103
"{{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}}"
"0000066547" "1" "11" "10" "96796885" "96829159" "" "0" "01294" "CYP2C8_000001" "g.96796885_96829159=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP2C8*1A\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "-" "" "0" "" "" "" "" "benign" ""
"0000066548" "1" "33" "10" "96829430" "96829430" "subst" "0" "01294" "CYP2C8_001001" "g.96829430G>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-271C>A" "reference haplotype CYP2C8*1B" "Germline" "-" "rs7909236" "0" "" "" "g.95069673G>T" "" "likely benign" ""
"0000066549" "1" "33" "10" "96829529" "96829529" "subst" "0" "01294" "CYP2C8_001002" "g.96829529A>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-370T>G" "reference haplotype CYP2C8*1C" "Germline" "-" "rs17110453" "0" "" "" "g.95069772A>C" "" "likely benign" ""
"0000066550" "1" "99" "10" "96818106" "96818106" "subst" "0.0154476" "01294" "CYP2C8_000002" "g.96818106T>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "11054A>T" "decreased in vitro enzyme activity; reference haplotype CYP2C8*2" "Germline" "-" "rs11572103" "0" "" "" "g.95058349T>A" "" "pathogenic" ""
"0000066551" "1" "50" "10" "96796861" "96796861" "subst" "0.222022" "01294" "CYP2C8_001008" "g.96796861G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "32299CA" "" "VUS" ""
"0000066552" "1" "99" "10" "96818119" "96818119" "subst" "0.0376294" "01294" "CYP2C8_000004" "g.96818119G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "11041C>G" "decreased in vitro enzyme activity; reference haplotype CYP2C8*4" "Germline" "-" "rs1058930" "0" "" "" "g.95058362G>C" "" "pathogenic" ""
"0000066553" "1" "99" "10" "96826975" "96826975" "del" "0" "01294" "CYP2C8_000005" "g.96826975del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2189delA (159fs)" "no in vivo enzyme activity; reference haplotype CYP2C8*5" "Germline" "-" "rs72558196" "0" "" "" "g.95067218del" "" "pathogenic" ""
"0000066554" "1" "11" "10" "96824688" "96824688" "subst" "0.000400168" "01294" "CYP2C8_000006" "g.96824688C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4472G>A" "unchanged in vitro enzyme activity; reference haplotype CYP2C8*6" "Germline" "-" "rs142886225" "0" "" "" "g.95064931C>T" "" "benign" ""
"0000066555" "1" "99" "10" "96824643" "96824643" "subst" "0.000243841" "01294" "CYP2C8_000007" "g.96824643G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4517C>T" "no in vitro enzyme activity; reference haplotype CYP2C8*7" "Germline" "-" "rs72558195" "0" "" "" "g.95064886G>A" "" "pathogenic" ""
"0000066556" "1" "99" "10" "96824643" "96824643" "subst" "0" "01294" "CYP2C8_000008" "g.96824643G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4517C>G" "decreased in vitro enzyme activity; reference haplotype CYP2C8*8" "Germline" "-" "rs72558195" "0" "" "" "g.95064886G>C" "" "pathogenic" ""
"0000066557" "1" "11" "10" "96818171" "96818171" "subst" "2.03457E-5" "01294" "CYP2C8_000009" "g.96818171T>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "10989A>G" "unchanged in vitro enzyme activity; reference haplotype CYP2C8*9" "Germline" "-" "" "0" "" "" "g.95058414T>C" "" "benign" ""
"0000066558" "1" "11" "10" "96802647" "96802647" "subst" "0" "01294" "CYP2C8_000010" "g.96802647C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "26513G>T" "unchanged in vitro enzyme activity; reference haplotype CYP2C8*10" "Germline" "-" "" "0" "" "" "g.95042890C>A" "" "benign" ""
"0000066559" "1" "99" "10" "96805708" "96805708" "subst" "0.000280387" "01294" "CYP2C8_000011" "g.96805708C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "23452G>T" "no in vitro enzyme activity; reference haplotype CYP2C8*11" "Germline" "-" "rs78637571" "0" "" "" "g.95045951C>A" "" "pathogenic" ""
"0000066560" "1" "50" "10" "96796976" "96796978" "del" "0" "01294" "CYP2C8_000012" "g.96796976_96796978del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "32184_32186delTTG (461delV)" "reference haplotype CYP2C8*12" "Germline" "-" "rs3832694" "0" "" "" "g.95037219_95037221del" "" "VUS" ""
"0000066561" "1" "11" "10" "96818242" "96818242" "subst" "0" "01294" "CYP2C8_000013" "g.96818242A>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "10918T>G" "unchanged in vitro enzyme activity; reference haplotype CYP2C8*13" "Germline" "-" "" "0" "" "" "g.95058485A>C" "" "benign" ""
"0000066562" "1" "99" "10" "96818199" "96818199" "subst" "0.00018731" "01294" "CYP2C8_000014" "g.96818199C>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "10961G>C" "decreased in vitro enzyme activity; reference haplotype CYP2C8*14" "Germline" "-" "rs188934928" "0" "" "" "g.95058442C>G" "" "pathogenic" ""
"0000066563" "1" "30" "10" "96827485" "96827485" "subst" "0.00772811" "01294" "CYP2C8_001003" "g.96827485G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "1675C>T" "decreased in vitro enzyme activity; reference haplotype CYP2C8*2" "Germline" "-" "rs11572073" "0" "" "" "g.95067728G>A" "" "likely benign" ""
"0000066564" "1" "30" "10" "96827150" "96827150" "subst" "0.0148635" "01294" "CYP2C8_001004" "g.96827150C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2010G>A" "decreased in vitro enzyme activity; reference haplotype CYP2C8*2" "Germline" "-" "rs11572076" "0" "" "" "g.95067393C>T" "" "likely benign" ""
"0000066565" "1" "30" "10" "96827126" "96827126" "dup" "0" "01294" "CYP2C8_001005" "g.96827126dup" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2040_2041insT" "decreased in vitro enzyme activity; reference haplotype CYP2C8*2" "Germline" "-" "rs11572078" "0" "" "" "g.95067369dup" "" "likely benign" ""
"0000066566" "1" "30" "10" "96802598" "96802598" "subst" "0.577985" "01294" "CYP2C8_001006" "g.96802598A>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "26562T>A" "decreased in vitro enzyme activity; reference haplotype CYP2C8*2" "Germline" "-" "rs2275620" "0" "" "" "g.95042841A>T" "" "likely benign" ""
"0000066567" "1" "30" "10" "96796861" "96796861" "subst" "0.222022" "01294" "CYP2C8_001008" "g.96796861G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "32299CA" "" "likely benign" ""
"0000066568" "1" "50" "10" "96827030" "96827030" "subst" "0.0837808" "01294" "CYP2C8_000003" "g.96827030C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2130G>A" "decreased in vitro enzyme activity; reference haplotype CYP2C8*3" "Germline" "-" "rs11572080" "0" "" "" "g.95067273C>T" "" "VUS" ""
"0000066569" "1" "50" "10" "96827485" "96827485" "subst" "0.00772811" "01294" "CYP2C8_001003" "g.96827485G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "1675C>T" "decreased in vitro enzyme activity; reference haplotype CYP2C8*3" "Germline" "-" "rs11572073" "0" "" "" "g.95067728G>A" "" "VUS" ""
"0000066570" "1" "50" "10" "96827150" "96827150" "subst" "0.0148635" "01294" "CYP2C8_001004" "g.96827150C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "2010G>A" "decreased in vitro enzyme activity; reference haplotype CYP2C8*3" "Germline" "-" "rs11572076" "0" "" "" "g.95067393C>T" "" "VUS" ""
"0000066571" "1" "50" "10" "96802598" "96802598" "subst" "0.577985" "01294" "CYP2C8_001006" "g.96802598A>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "26562T>A" "decreased in vitro enzyme activity; reference haplotype CYP2C8*3" "Germline" "-" "rs2275620" "0" "" "" "g.95042841A>T" "" "VUS" ""
"0000066572" "1" "50" "10" "96798749" "96798749" "subst" "0.0838154" "01294" "CYP2C8_001007" "g.96798749T>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "30411A>G" "decreased in vitro enzyme activity; reference haplotype CYP2C8*3" "Germline" "-" "rs10509681" "0" "" "" "g.95038992T>C" "" "VUS" ""
"0000066575" "1" "10" "10" "96829430" "96829430" "subst" "0" "00006" "CYP2C8_001001" "g.96829430G>T" "13/214 chromosomes" "{PMID:Bahadur 2002:12429347}" "" "C-271A" "liver microsome analysis showed no expression differences" "Germline" "" "" "0" "" "" "g.95069673G>T" "" "benign" ""
"0000066576" "1" "30" "10" "96829529" "96829529" "subst" "0" "00006" "CYP2C8_001002" "g.96829529A>C" "13/214 chromosomes" "{PMID:Bahadur 2002:12429347}" "" "T-370G" "liver microsome analysis showed no significant expression differences" "Germline" "" "" "0" "" "" "g.95069772A>C" "" "likely benign" ""
"0000066577" "1" "90" "10" "96818106" "96818106" "subst" "0.0154476" "00006" "CYP2C8_000002" "g.96818106T>A" "29/164 chromosomes" "{PMID:Dai 2001:11668219}" "" "" "not in 170 European individuals" "Germline" "" "" "0" "" "" "g.95058349T>A" "" "pathogenic" ""
"0000066579" "1" "70" "10" "96818119" "96818119" "subst" "0.0376294" "00006" "CYP2C8_000004" "g.96818119G>C" "8/200 chromosomes" "{PMID:Bahadur 2002:12429347}" "BspDI-;ClaI-;TaqI-" "C792G" "all heterozygous cases; liver microsome analysis showed showed significantly lower paclitaxel 6alpha-hydroxylase activity" "Germline" "" "" "0" "" "" "g.95058362G>C" "" "likely pathogenic" ""
"0000066580" "1" "90" "10" "96826975" "96826975" "del" "0" "00006" "CYP2C8_000005" "g.96826975del" "1/108 chromosomes" "{PMID:Soyama 2002:15618689}" "" "" "" "Germline" "" "" "0" "" "" "g.95067218del" "" "pathogenic" ""
"0000066581" "1" "30" "10" "96824688" "96824688" "subst" "0.000400168" "00006" "CYP2C8_000006" "g.96824688C>T" "1/201 individuals" "{PMID:Hichiya 2005:15716363}" "" "" "" "Germline" "" "" "0" "" "" "g.95064931C>T" "" "likely benign" ""
"0000066582" "1" "90" "10" "96824643" "96824643" "subst" "0.000243841" "00006" "CYP2C8_000007" "g.96824643G>A" "1/201 individuals" "{PMID:Hichiya 2005:15716363}" "" "" "" "Germline" "" "" "0" "" "" "g.95064886G>A" "" "pathogenic" ""
"0000066583" "1" "90" "10" "96824643" "96824643" "subst" "0" "00006" "CYP2C8_000008" "g.96824643G>C" "1/201 individuals" "{PMID:Hichiya 2005:15716363}" "" "" "" "Germline" "" "" "0" "" "" "g.95064886G>C" "" "pathogenic" ""
"0000066584" "1" "30" "10" "96818171" "96818171" "subst" "2.03457E-5" "00006" "CYP2C8_000009" "g.96818171T>C" "1/201 individuals" "{PMID:Hichiya 2005:15716363}" "" "" "" "Germline" "" "" "0" "" "" "g.95058414T>C" "" "likely benign" ""
"0000066585" "1" "30" "10" "96802647" "96802647" "subst" "0" "00006" "CYP2C8_000010" "g.96802647C>A" "1/201 individuals" "{PMID:Hichiya 2005:15716363}" "" "" "" "Germline" "" "" "0" "" "" "g.95042890C>A" "" "likely benign" ""
"0000066586" "2" "90" "10" "96805708" "96805708" "subst" "0.000280387" "00006" "CYP2C8_000011" "g.96805708C>A" "3/447 individuals" "{PMID:Yeo 2011:21245287}" "" "23452G>T" "higher plasma concentrations of rosiglitazone after single dose, reduced oral clearance; not detected in African-Americans and Europeans (white)" "Germline" "" "" "0" "" "" "g.95045951C>A" "" "pathogenic" ""
"0000066587" "1" "50" "10" "96796976" "96796978" "del" "0" "00006" "CYP2C8_000012" "g.96796976_96796978del" "1/347 individuals" "{PMID:Saito 2007:17558302}" "Hpy188I+" "" "" "Germline" "" "" "0" "" "" "g.95037219_95037221del" "" "VUS" ""
"0000066588" "1" "30" "10" "96818242" "96818242" "subst" "0" "00006" "CYP2C8_000013" "g.96818242A>C" "1/470 chromosomes" "{PMID:Nakajima 2006:16890579}" "CviAII+;FatI+;NlaIII+" "" "" "Germline" "?" "" "0" "" "" "g.95058485A>C" "" "likely benign" ""
"0000066589" "1" "90" "10" "96818199" "96818199" "subst" "0.00018731" "00006" "CYP2C8_000014" "g.96818199C>G" "1/470 chromosomes" "{PMID:Nakajima 2006:16890579}" "MnlI+" "" "" "Germline" "" "" "0" "" "" "g.95058442C>G" "" "pathogenic" ""
"0000066590" "3" "30" "10" "96818242" "96818242" "subst" "0" "00006" "CYP2C8_000013" "g.96818242A>C" "" "{PMID:Hanioka 2010:20148860}" "" "" "cDNA yeast expression cloning shows normal expression, normal affinity toward paclitaxel" "In vitro (cloned)" "-" "" "0" "" "" "g.95058485A>C" "" "NA" ""
"0000066591" "3" "90" "10" "96818199" "96818199" "subst" "0.00018731" "00006" "CYP2C8_000014" "g.96818199C>G" "" "{PMID:Hanioka 2010:20148860}" "" "" "cDNA yeast expression cloning shows reduced expression, decreased affinity toward paclitaxel" "In vitro (cloned)" "-" "" "0" "" "" "g.95058442C>G" "" "NA" ""
"0000066592" "3" "70" "10" "96818119" "96818119" "subst" "0.0376294" "00006" "CYP2C8_000004" "g.96818119G>C" "" "{PMID:Gao 2010:20459297}" "" "" "yeast cDNA expression cloning shows reduced enzymatic activity; normal IC50 values" "In vitro (cloned)" "-" "" "0" "" "" "g.95058362G>C" "" "NA" ""
"0000066593" "3" "90" "10" "96818119" "96818119" "subst" "0.0376294" "00006" "CYP2C8_000004" "g.96818119G>C" "" "{PMID:Jian 2011:20848147}" "" "" "cDNA expression cloning in E.coli shows a reduced paclitaxel metabolic activity (to 0.25) and 2 twofold increseased paclitaxel binding activity." "In vitro (cloned)" "-" "" "0" "" "" "g.95058362G>C" "" "NA" ""
"0000066594" "1" "70" "10" "96818106" "96818106" "subst" "0.0154476" "00006" "CYP2C8_000002" "g.96818106T>A" "" "{PMID:Gao 2010:20459297}" "" "" "yeast cDNA expression cloning shows reduced enzymatic activity; normal IC50 value" "In vitro (cloned)" "-" "" "0" "" "" "g.95058349T>A" "" "NA" ""
"0000066595" "3" "90" "10" "96827030" "96827030" "subst" "0.0837808" "00006" "CYP2C8_000003" "g.96827030C>T" "" "{PMID:Gao 2010:20459297}" "" "" "yeast cDNA expression cloning shows severely reduced enzymatic activity; dramatically altered IC50" "In vitro (cloned)" "-" "" "0" "" "" "g.95067273C>T" "" "NA" ""
"0000066604" "3" "90" "10" "96798749" "96798749" "subst" "0.0838154" "00006" "CYP2C8_001007" "g.96798749T>C" "" "{PMID:Gao 2010:20459297}" "" "" "yeast cDNA expression cloning shows severly reduced enzymatic activity; dramatically altered IC50" "In vitro (cloned)" "-" "" "0" "" "" "g.95038992T>C" "" "NA" ""
"0000066611" "1" "90" "10" "96827030" "96827030" "subst" "0.0837808" "00006" "CYP2C8_000003" "g.96827030C>T" "44/340 chromosomes" "{PMID:Dai 2001:11668219}" "BspQI+;SapI+;BseRI-" "" "" "Germline" "" "" "0" "" "" "g.95067273C>T" "" "pathogenic" ""
"0000066615" "1" "90" "10" "96798749" "96798749" "subst" "0.0838154" "00006" "CYP2C8_001007" "g.96798749T>C" "44/340 chromosomes" "{PMID:Dai 2001:11668219}" "" "" "" "Germline" "" "" "0" "" "" "g.95038992T>C" "" "pathogenic" ""
"0000066616" "1" "70" "10" "96798749" "96798749" "subst" "0.0838154" "00006" "CYP2C8_001007" "g.96798749T>C" "16/214 chromosomes" "{PMID:Bahadur 2002:12429347}" "" "A1196G" "liver microsome analysis showed showed significantly lower paclitaxel 6alpha-hydroxylase activity" "Germline" "" "" "0" "" "" "g.95038992T>C" "" "likely pathogenic" ""
"0000066617" "1" "70" "10" "96827027" "96827027" "subst" "0" "00006" "CYP2C8_001009" "g.96827027C>T" "16/214 chromosomes" "{PMID:Bahadur 2002:12429347}" "" "G416A" "liver microsome analysis showed showed significantly lower paclitaxel 6alpha-hydroxylase activity" "Germline" "" "" "0" "" "" "g.95067270C>T" "" "likely pathogenic" ""
"0000066618" "1" "50" "10" "96818106" "96818106" "subst" "0.0154476" "00006" "CYP2C8_000002" "g.96818106T>A" "1/232 chromosomes" "{PMID:Bahadur 2002:12429347}" "" "A805T" "" "Germline" "" "" "0" "" "" "g.95058349T>A" "" "VUS" ""
"0000066619" "1" "50" "10" "96798776" "96798776" "subst" "7.31131E-5" "00006" "CYP2C8_001010" "g.96798776A>G" "1/232 chromosomes" "{PMID:Bahadur 2002:12429347}" "" "T1169C" "" "Germline" "" "" "0" "" "" "g.95039019A>G" "" "VUS" ""
"0000066620" "1" "90" "10" "96798749" "96798749" "subst" "0.0838154" "00006" "CYP2C8_001007" "g.96798749T>C" "3/164 chromosomes" "{PMID:Dai 2001:11668219}" "" "" "" "Germline" "" "" "0" "" "" "g.95038992T>C" "" "pathogenic" ""
"0000066621" "1" "90" "10" "96827030" "96827030" "subst" "0.0837808" "00006" "CYP2C8_000003" "g.96827030C>T" "3/164 chromosomes" "{PMID:Dai 2001:11668219}" "" "" "" "Germline" "" "" "0" "" "" "g.95067273C>T" "" "pathogenic" ""
"0000066622" "3" "70" "10" "96818106" "96818106" "subst" "0.0154476" "00006" "CYP2C8_000002" "g.96818106T>A" "" "{PMID:Dai 2001:11668219}" "" "" "cDNA expression cloning shows 2-fold higher Km and 2-fold lower intrinsic clearance for paclitaxel, turnover of arachidonic acid metabolism unaffected" "In vitro (cloned)" "-" "" "0" "" "" "g.95058349T>A" "" "NA" ""
"0000066623" "3" "90" "10" "96827030" "96827030" "subst" "0.0837808" "00006" "CYP2C8_000003" "g.96827030C>T" "" "{PMID:Dai 2001:11668219}" "" "" "cDNA expression cloning shows defective paclitaxel and arachidonic acid metabolism" "In vitro (cloned)" "-" "" "0" "" "" "g.95067273C>T" "" "NA" ""
"0000066624" "3" "90" "10" "96798749" "96798749" "subst" "0.0838154" "00006" "CYP2C8_001007" "g.96798749T>C" "" "{PMID:Dai 2001:11668219}" "" "" "cDNA expression cloning shows defective paclitaxel and arachidonic acid metabolism" "In vitro (cloned)" "-" "" "0" "" "" "g.95038992T>C" "" "NA" ""
"0000066625" "1" "30" "10" "96802737" "96802737" "subst" "0.00890131" "00006" "CYP2C8_001011" "g.96802737G>A" "" "{PMID:Dai 2001:11668219}" "" "H353H" "" "Germline" "" "" "0" "" "" "g.95042980G>A" "" "likely benign" ""
"0000066626" "1" "30" "10" "96826966" "96826966" "subst" "0.0115493" "00006" "CYP2C8_001012" "g.96826966C>T" "" "{PMID:Dai 2001:11668219}" "" "K160K" "" "Germline" "" "" "0" "" "" "g.95067209C>T" "" "likely benign" ""
"0000066627" "3" "90" "10" "96798749" "96798749" "subst" "0.0838154" "00006" "CYP2C8_001007" "g.96798749T>C" "" "{PMID:Gao 2010:20459297}" "" "" "yeast cDNA expression cloning shows strongly reduced enzymatic activity; dramatically altered IC50 values" "In vitro (cloned)" "-" "" "0" "" "" "g.95038992T>C" "" "NA" ""
"0000066628" "1" "90" "10" "96827030" "96827030" "subst" "0.0837808" "00006" "CYP2C8_000003" "g.96827030C>T" "" "{PMID:Gao 2010:20459297}" "" "" "yeast cDNA expression cloning shows normal enzymatic activity; dramatically altered IC50 values (qualitatively and quantitatively reduces risk of in vivo paclitaxel–raloxifene and paclitaxel-troglitazone interactions)" "In vitro (cloned)" "-" "" "0" "" "" "g.95067273C>T" "" "NA" ""
"0000066629" "1" "30" "10" "96827569" "96827569" "subst" "0" "00006" "CYP2C8_001013" "g.96827569G>A" "1/108 chromosomes" "{PMID:Soyama 2002:15618689}" "" "" "" "Germline" "-" "" "0" "" "" "g.95067812G>A" "" "likely benign" ""
"0000066630" "1" "30" "10" "96824815" "96824815" "del" "0" "00006" "CYP2C8_001014" "g.96824815del" "1/108 chromosomes" "{PMID:Soyama 2002:15618689}" "" "IVS3-97delT" "" "Germline" "-" "" "0" "" "" "g.95065058del" "" "likely benign" ""
"0000066631" "1" "30" "10" "96802576" "96802576" "subst" "0" "00006" "CYP2C8_001015" "g.96802576G>A" "3/108 chromosomes" "{PMID:Soyama 2002:15618689}" "" "IVS7+71C>T" "" "Germline" "-" "" "0" "" "" "g.95042819G>A" "" "likely benign" ""
"0000066632" "1" "30" "10" "96797270" "96797270" "subst" "0" "00006" "CYP2C8_001016" "g.96797270T>C" "4/108 chromosomes" "{PMID:Soyama 2002:15618689}" "" "IVS8-204A>G" "" "Germline" "-" "" "0" "" "" "g.95037513T>C" "" "likely benign" ""
"0000066633" "3" "30" "10" "96824688" "96824688" "subst" "0.000400168" "00006" "CYP2C8_000006" "g.96824688C>T" "" "{PMID:Hichiya 2005:15716363}" "" "" "cDNA expression cloning COS-1 cells shows normal expression level, normal paclitaxel 6alpha-hydroxylation activity" "In vitro (cloned)" "-" "" "0" "" "" "g.95064931C>T" "" "NA" ""
"0000066634" "3" "90" "10" "96824643" "96824643" "subst" "0" "00006" "CYP2C8_000008" "g.96824643G>C" "" "{PMID:Hichiya 2005:15716363}" "" "" "cDNA expression cloning COS-1 cells shows reduced expression level (0.40), normal mRNA expression, normal protein localisation, strongly reduced paclitaxel 6alpha-hydroxylation activity" "In vitro (cloned)" "-" "" "0" "" "" "g.95064886G>C" "" "NA" ""
"0000066635" "3" "90" "10" "96824643" "96824643" "subst" "0.000243841" "00006" "CYP2C8_000007" "g.96824643G>A" "" "{PMID:Hichiya 2005:15716363}" "" "" "cDNA expression cloning COS-1 cells gives undetectable protein, no paclitaxel 6alpha-hydroxylation activity" "In vitro (cloned)" "-" "" "0" "" "" "g.95064886G>A" "" "NA" ""
"0000066636" "3" "30" "10" "96818171" "96818171" "subst" "2.03457E-5" "00006" "CYP2C8_000009" "g.96818171T>C" "" "{PMID:Hichiya 2005:15716363}" "" "" "cDNA expression cloning COS-1 cells shows normal expression level, normal paclitaxel 6alpha-hydroxylation activity" "In vitro (cloned)" "-" "" "0" "" "" "g.95058414T>C" "" "NA" ""
"0000066637" "3" "30" "10" "96802647" "96802647" "subst" "0" "00006" "CYP2C8_000010" "g.96802647C>A" "" "{PMID:Hichiya 2005:15716363}" "" "" "cDNA expression cloning COS-1 cells shows normal expression level, normal paclitaxel 6alpha-hydroxylation activity" "In vitro (cloned)" "-" "" "0" "" "" "g.95042890C>A" "" "NA" ""
"0000066638" "2" "90" "10" "96805708" "96805708" "subst" "0.000280387" "00006" "CYP2C8_000011" "g.96805708C>A" "1/348 individuals" "{PMID:Yeo 2011:21245287}" "" "" "higher plasma concentrations of rosiglitazone after single dose, reduced oral clearance" "Germline" "?" "" "0" "" "" "g.95045951C>A" "" "pathogenic" ""
"0000066639" "2" "90" "10" "96805708" "96805708" "subst" "0.000280387" "00006" "CYP2C8_000011" "g.96805708C>A" "2/100 individuals" "{PMID:Yeo 2011:21245287}" "" "" "higher plasma concentrations of rosiglitazone after single dose, reduced oral clearance" "Germline" "-" "" "0" "" "" "g.95045951C>A" "" "pathogenic" ""
"0000066640" "1" "30" "10" "96832057" "96832057" "subst" "0" "00006" "CYP2C8_001026" "g.96832057A>G" "55/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "-2898T>C" "14 homozygotes" "Germline" "" "" "0" "" "" "g.95072300A>G" "" "likely benign" ""
"0000066641" "1" "30" "10" "96831766" "96831766" "del" "0" "00006" "CYP2C8_001025" "g.96831766del" "55/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "-2599delA" "14 homozygotes" "Germline" "" "" "0" "" "" "g.95072009del" "" "likely benign" ""
"0000066642" "1" "30" "10" "96831389" "96831389" "subst" "0" "00006" "CYP2C8_001024" "g.96831389C>T" "57/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "-2230G>A" "15 homozygotes" "Germline" "" "" "0" "" "" "g.95071632C>T" "" "likely benign" ""
"0000066643" "1" "30" "10" "96831187" "96831187" "subst" "0" "00006" "CYP2C8_001023" "g.96831187T>C" "7/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "-2028G>A" "no homozygotes" "Germline" "" "" "0" "" "" "g.95071430T>C" "" "likely benign" ""
"0000066644" "1" "30" "10" "96829570" "96829570" "subst" "0" "00006" "CYP2C8_001027" "g.96829570G>A" "57/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "-411C>T" "15 homozygotes" "Germline" "" "" "0" "" "" "g.95069813G>A" "" "likely benign" ""
"0000066645" "1" "30" "10" "96829529" "96829529" "subst" "0" "00006" "CYP2C8_001002" "g.96829529A>C" "35/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "-370T>G" "6 homozygotes" "Germline" "" "" "0" "" "" "g.95069772A>C" "" "likely benign" ""
"0000066646" "1" "30" "10" "96829430" "96829430" "subst" "0" "00006" "CYP2C8_001001" "g.96829430G>T" "8/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "-271C>A" "no homozygotes" "Germline" "" "" "0" "" "" "g.95069673G>T" "" "likely benign" ""
"0000066647" "1" "30" "10" "96827178" "96827178" "subst" "0" "00006" "CYP2C8_001020" "g.96827178T>C" "51/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "1982A>G" "11 homozygotes" "Germline" "" "" "0" "" "" "g.95067421T>C" "" "likely benign" ""
"0000066648" "1" "30" "10" "96827126" "96827126" "dup" "0" "00006" "CYP2C8_001005" "g.96827126dup" "26/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "2041insT" "no homozygotes" "Germline" "" "" "0" "" "" "g.95067369dup" "" "likely benign" ""
"0000066649" "1" "30" "10" "96824738" "96824738" "subst" "0" "00006" "CYP2C8_001021" "g.96824738A>T" "6/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "4424T>A" "1 homozygotes" "Germline" "" "" "0" "" "" "g.95064981A>T" "" "likely benign" ""
"0000066650" "1" "30" "10" "96824688" "96824688" "subst" "0.000400168" "00006" "CYP2C8_000006" "g.96824688C>T" "1/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "4472G>A (G171S)" "no homozygotes" "Germline" "" "" "0" "" "" "g.95064931C>T" "" "likely benign" ""
"0000066651" "1" "30" "10" "96802598" "96802598" "subst" "0.577985" "00006" "CYP2C8_001006" "g.96802598A>T" "51/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "26562T>A" "11 homozygotes" "Germline" "" "" "0" "" "" "g.95042841A>T" "" "likely benign" ""
"0000066652" "1" "30" "10" "96798715" "96798715" "subst" "0.00137285" "00006" "CYP2C8_001019" "g.96798715G>A" "2/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "30445C>T (G400G)" "no homozygotes" "Germline" "" "" "0" "" "" "g.95038958G>A" "" "likely benign" ""
"0000066653" "1" "30" "10" "96798548" "96798548" "subst" "0" "00006" "CYP2C8_001018" "g.96798548C>T" "44/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "30612G>A" "8 homozygotes" "Germline" "" "" "0" "" "" "g.95038791C>T" "" "likely benign" ""
"0000066654" "1" "30" "10" "96798524" "96798524" "subst" "0" "00006" "CYP2C8_001017" "g.96798524A>G" "1/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "30636T>C" "no homozygotes" "Germline" "" "" "0" "" "" "g.95038767A>G" "" "likely benign" ""
"0000066655" "1" "30" "10" "96796861" "96796861" "subst" "0.222022" "00006" "CYP2C8_001008" "g.96796861G>A" "43/100 chromosomes" "{PMID:Yeo 2011:21245287}" "" "32299C>T" "8 homozygotes" "Germline" "" "" "0" "" "" "g.95037104G>A" "" "likely benign" ""
"0000066676" "1" "99" "10" "96826975" "96826975" "del" "0" "00006" "CYP2C8_000005" "g.96826975del" "1/470 chromosomes" "{PMID:Nakajima 2006:16890579}" "" "" "" "Germline" "" "" "0" "" "" "g.95067218del" "" "pathogenic" ""
"0000066677" "1" "90" "10" "96824643" "96824643" "subst" "0.000243841" "00006" "CYP2C8_000007" "g.96824643G>A" "1/470 chromosomes" "{PMID:Nakajima 2006:16890579}" "" "" "" "Germline" "" "" "0" "" "" "g.95064886G>A" "" "pathogenic" ""
"0000066678" "1" "90" "10" "96824643" "96824643" "subst" "0" "00006" "CYP2C8_000008" "g.96824643G>C" "1/470 chromosomes" "{PMID:Nakajima 2006:16890579}" "" "" "" "Germline" "" "" "0" "" "" "g.95064886G>C" "" "pathogenic" ""
"0000066679" "1" "30" "10" "96798715" "96798715" "subst" "0.00137285" "00006" "CYP2C8_001019" "g.96798715G>A" "9/470 chromosomes" "{PMID:Nakajima 2006:16890579}" "" "" "" "Germline" "" "" "0" "" "" "g.95038958G>A" "" "likely benign" ""
"0000066706" "1" "90" "10" "96798735" "96798735" "subst" "0" "00006" "CYP2C8_001022" "g.96798735G>C" "1/146 chromosomes" "{PMID:Soyama 2001:11767116}" "" "" "" "Germline" "" "" "0" "" "" "g.95038978G>C" "" "pathogenic" ""
"0000066707" "3" "90" "10" "96798735" "96798735" "subst" "0" "00006" "CYP2C8_001022" "g.96798735G>C" "" "{PMID:Soyama 2001:11767116}" "" "" "cDNA expression cloning HepG2 cells shows reduced protein expression (RNA normal) and significantly reduced clearance (normal Km)" "In vitro (cloned)" "-" "" "0" "" "" "g.95038978G>C" "" "NA" ""
"0000066709" "3" "70" "10" "96798749" "96798749" "subst" "0.0838154" "00006" "CYP2C8_001007" "g.96798749T>C" "" "{PMID:Soyama 2001:11767116}" "" "" "cDNA expression cloning HepG2 cells shows reduced protein expression (normal RNA) and reduced values for Vmax and clearance" "In vitro (cloned)" "-" "" "0" "" "" "g.95038992T>C" "" "NA" ""
"0000066756" "3" "90" "10" "96798735" "96798735" "subst" "0" "00006" "CYP2C8_001022" "g.96798735G>C" "" "{PMID:Jian 2011:20848147}" "" "" "cDNA expression cloning in E.coli shows a reduced paclitaxel metabolic activity (to 0.30) and 2 twofold decreseased paclitaxel binding activity" "In vitro (cloned)" "-" "" "0" "" "" "g.95038978G>C" "" "NA" ""
"0000541692" "0" "50" "10" "96798747" "96798747" "subst" "8.12374E-6" "01943" "CYP2C8_001028" "g.96798747C>A" "" "" "" "CYP2C8(NM_001198855.1):c.988G>T (p.E330*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95038990C>A" "" "VUS" ""
"0000648041" "1" "50" "10" "96798749" "96798749" "subst" "0.0838154" "03575" "CYP2C8_001007" "g.96798749T>C" "200/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "drug response; 200 heterozygous; {DB:CLININrs10509681}" "Germline" "" "rs10509681" "0" "" "" "g.95038992T>C" "" "VUS" ""
"0000648042" "1" "10" "10" "96818106" "96818106" "subst" "0.0154476" "03575" "CYP2C8_000002" "g.96818106T>A" "68/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "68 heterozygous; {DB:CLININrs11572103}" "Germline" "" "rs11572103" "0" "" "" "g.95058349T>A" "" "benign" ""
"0000669090" "3" "50" "10" "96798749" "96798749" "subst" "0.0838154" "03575" "CYP2C8_001007" "g.96798749T>C" "4/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "drug response; 4 homozygous; {DB:CLININrs10509681}" "Germline" "" "rs10509681" "0" "" "" "g.95038992T>C" "" "VUS" ""
"0000669091" "3" "10" "10" "96818106" "96818106" "subst" "0.0154476" "03575" "CYP2C8_000002" "g.96818106T>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs11572103}" "Germline" "" "rs11572103" "0" "" "" "g.95058349T>A" "" "benign" ""
"0000804649" "0" "30" "10" "96798795" "96798795" "subst" "0.000930282" "01943" "CYP2C8_001029" "g.96798795C>T" "" "" "" "CYP2C8(NM_001198855.1):c.940G>A (p.G314S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 CYP2C8
## Count = 103
"{{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}}" "{{VariantOnTranscript/Haplotype}}"
"0000066547" "00005999" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.=" "1_9" "CYP2C8*1A"
"0000066548" "00005999" "33" "-271" "0" "-271" "0" "c.-271C>A" "r.=" "p.=" "_1" "CYP2C8*1B"
"0000066549" "00005999" "33" "-370" "0" "-370" "0" "c.-370T>G" "r.=" "p.=" "_1" "CYP2C8*1C"
"0000066550" "00005999" "99" "805" "0" "805" "0" "c.805A>T" "r.(?)" "p.Ile269Phe" "5" "CYP2C8*2"
"0000066551" "00005999" "50" "1497" "0" "1497" "0" "c.*24C>T" "r.(?)" "p.=" "9" "CYP2C8*3"
"0000066552" "00005999" "99" "792" "0" "792" "0" "c.792C>G" "r.(?)" "p.Ile264Met" "5" "CYP2C8*4"
"0000066553" "00005999" "99" "475" "0" "475" "0" "c.475del" "r.(?)" "p.Thr159Profs*19" "3" "CYP2C8*5"
"0000066554" "00005999" "11" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.Gly171Ser" "4" "CYP2C8*6"
"0000066555" "00005999" "99" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.Arg186*" "4" "CYP2C8*7"
"0000066556" "00005999" "99" "556" "0" "556" "0" "c.556C>G" "r.(?)" "p.Arg186Gly" "4" "CYP2C8*8"
"0000066557" "00005999" "11" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.Lys247Arg" "5" "CYP2C8*9"
"0000066558" "00005999" "11" "1149" "0" "1149" "0" "c.1149G>T" "r.spl?" "p.Lys383Asn" "7" "CYP2C8*10"
"0000066559" "00005999" "99" "820" "0" "820" "0" "c.820G>T" "r.(?)" "p.Glu274*" "6" "CYP2C8*11"
"0000066560" "00005999" "50" "1382" "0" "1384" "0" "c.1382_1384del" "r.(?)" "p.Val461del" "9" "CYP2C8*12"
"0000066561" "00005999" "11" "669" "0" "669" "0" "c.669T>G" "r.(?)" "p.Ile223Met" "5" "CYP2C8*13"
"0000066562" "00005999" "99" "712" "0" "712" "0" "c.712G>C" "r.(?)" "p.Ala238Pro" "5" "CYP2C8*14"
"0000066563" "00005999" "30" "169" "-37" "169" "-37" "c.169-37C>T" "r.(?)" "p.=" "1i" "CYP2C8*2"
"0000066564" "00005999" "30" "332" "-36" "332" "-36" "c.332-36G>A" "r.(?)" "p.=" "2i" "CYP2C8*2"
"0000066565" "00005999" "30" "332" "-6" "332" "-6" "c.332-6dup" "r.(?)" "p.=" "2i" "CYP2C8*2"
"0000066566" "00005999" "30" "1149" "49" "1149" "49" "c.1149+49T>A" "r.(?)" "p.=" "7i" "CYP2C8*2"
"0000066567" "00005999" "30" "1497" "0" "1497" "0" "c.*24C>T" "r.(?)" "p.=" "9" "CYP2C8*2"
"0000066568" "00005999" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.Arg139Lys" "3" "CYP2C8*3"
"0000066569" "00005999" "50" "169" "-37" "169" "-37" "c.169-37C>T" "r.(?)" "p.=" "1i" "CYP2C8*3"
"0000066570" "00005999" "50" "332" "-36" "332" "-36" "c.332-36G>A" "r.(?)" "p.=" "2i" "CYP2C8*3"
"0000066571" "00005999" "50" "1149" "49" "1149" "49" "c.1149+49T>A" "r.(?)" "p.=" "7i" "CYP2C8*3"
"0000066572" "00005999" "50" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.Lys399Arg" "8" "CYP2C8*3"
"0000066575" "00005999" "10" "-271" "0" "-271" "0" "c.-271C>A" "r.(=)" "p.(=)" "_1" "CYP2C8*1B"
"0000066576" "00005999" "30" "-370" "0" "-370" "0" "c.-370T>G" "r.(=)" "p.(=)" "_1" "CYP2C8*1C"
"0000066577" "00005999" "90" "805" "0" "805" "0" "c.805A>T" "r.(?)" "p.(Ile269Phe)" "5" "CYP2C8*2"
"0000066579" "00005999" "70" "792" "0" "792" "0" "c.792C>G" "r.(?)" "p.(Ile264Met)" "5" "CYP2C8*4"
"0000066580" "00005999" "90" "475" "0" "475" "0" "c.475del" "r.(?)" "p.(Thr159Profs*19)" "3" "CYP2C8*5"
"0000066581" "00005999" "30" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Gly171Ser)" "4" "CYP2C8*6"
"0000066582" "00005999" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186*)" "4" "CYP2C8*7"
"0000066583" "00005999" "90" "556" "0" "556" "0" "c.556C>G" "r.(?)" "p.(Arg186Gly)" "4" "CYP2C8*8"
"0000066584" "00005999" "30" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Lys247Arg)" "5" "CYP2C8*9"
"0000066585" "00005999" "30" "1149" "0" "1149" "0" "c.1149G>T" "r.(?)" "p.(Lys383Asn)" "7" "CYP2C8*10"
"0000066586" "00005999" "90" "820" "0" "820" "0" "c.820G>T" "r.(?)" "p.(Glu274*)" "6" "CYP2C8*1;*11"
"0000066587" "00005999" "50" "1382" "0" "1384" "0" "c.1382_1384del" "r.(?)" "p.(Val461del)" "9" "CYP2C8*12"
"0000066588" "00005999" "30" "669" "0" "669" "0" "c.669T>G" "r.(?)" "p.(Ile223Met)" "5" "CYP2C8*13"
"0000066589" "00005999" "50" "712" "0" "712" "0" "c.712G>C" "r.(?)" "p.(Ala238Pro)" "5" "CYP2C8*14"
"0000066590" "00005999" "30" "669" "0" "669" "0" "c.669T>G" "r.(?)" "p.Ile223Met" "5" "CYP2C8*13"
"0000066591" "00005999" "90" "712" "0" "712" "0" "c.712G>C" "r.(?)" "p.Ala238Pro" "5" "CYP2C8*14"
"0000066592" "00005999" "70" "792" "0" "792" "0" "c.792C>G" "r.(?)" "p.Ile264Met" "5" "CYP2C8*4"
"0000066593" "00005999" "90" "792" "0" "792" "0" "c.792C>G" "r.(?)" "p.Ile264Met" "5" "CYP2C8*4"
"0000066594" "00005999" "70" "805" "0" "805" "0" "c.805A>T" "r.(?)" "p.Ile269Phe" "5" "CYP2C8*2"
"0000066595" "00005999" "90" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.Arg139Lys" "3" "CYP2C8*3"
"0000066604" "00005999" "90" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.Lys399Arg" "8" "CYP2C8*3"
"0000066611" "00005999" "90" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139Lys)" "3" "CYP2C8*3"
"0000066615" "00005999" "90" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Lys399Arg)" "9" "CYP2C8*3"
"0000066616" "00005999" "70" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Lys399Arg)" "8" "CYP2C8*3"
"0000066617" "00005999" "70" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Arg139Lys)" "3" "CYP2C8*3"
"0000066618" "00005999" "50" "805" "0" "805" "0" "c.805A>T" "r.(?)" "p.(Ile269Phe)" "5" "CYP2C8*2"
"0000066619" "00005999" "50" "1169" "0" "1169" "0" "c.1169T>C" "r.(?)" "p.(Leu390Ser)" "8" ""
"0000066620" "00005999" "90" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Lys399Arg)" "8" "CYP2C8*3"
"0000066621" "00005999" "90" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139Lys)" "3" "CYP2C8*3"
"0000066622" "00005999" "70" "805" "0" "805" "0" "c.805A>T" "r.(?)" "p.Ile269Phe" "5" "CYP2C8*2"
"0000066623" "00005999" "90" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.Arg139Lys" "3" "CYP2C8*3"
"0000066624" "00005999" "90" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.Lys399Arg" "8" "CYP2C8*3"
"0000066625" "00005999" "30" "1059" "0" "1059" "0" "c.1059C>T" "r.(?)" "p.(His353=)" "7" ""
"0000066626" "00005999" "30" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Lys160=)" "3" ""
"0000066627" "00005999" "90" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.Lys399Arg" "8" ""
"0000066628" "00005999" "90" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.Arg139Lys" "3" ""
"0000066629" "00005999" "30" "169" "-121" "169" "-121" "c.169-121C>T" "r.(=)" "p.(=)" "1i" ""
"0000066630" "00005999" "30" "482" "-97" "482" "-97" "c.482-97del" "r.(=)" "p.(=)" "3i" ""
"0000066631" "00005999" "30" "1149" "71" "1149" "71" "c.1149+71C>T" "r.(=)" "p.(=)" "7i" ""
"0000066632" "00005999" "30" "1292" "-204" "1292" "-204" "c.1292-204A>G" "r.(=)" "p.(=)" "8i" ""
"0000066633" "00005999" "30" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.Gly171Ser" "4" "CYP2C8*6"
"0000066634" "00005999" "90" "556" "0" "556" "0" "c.556C>G" "r.(?)" "p.Arg186Gly" "4" "CYP2C8*8"
"0000066635" "00005999" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.Arg186*" "4" "CYP2C8*7"
"0000066636" "00005999" "30" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.Lys247Arg" "5" "CYP2C8*9"
"0000066637" "00005999" "30" "1149" "0" "1149" "0" "c.1149G>T" "r.(?)" "p.Lys383Asn" "7" "CYP2C8*10"
"0000066638" "00005999" "90" "820" "0" "820" "0" "c.820G>T" "r.(?)" "p.(Glu274*)" "6" "CYP2C8*1;*11"
"0000066639" "00005999" "90" "820" "0" "820" "0" "c.820G>T" "r.(?)" "p.(Glu274*)" "6" "CYP2C8*1;*11"
"0000066640" "00005999" "30" "-2898" "0" "-2898" "0" "c.-2898T>C" "r.(=)" "p.(=)" "_1" ""
"0000066641" "00005999" "30" "-2599" "0" "-2599" "0" "c.-2599delA" "r.(=)" "p.(=)" "_1" ""
"0000066642" "00005999" "30" "-2230" "0" "-2230" "0" "c.-2230G>A" "r.(=)" "p.(=)" "_1" ""
"0000066643" "00005999" "30" "-2028" "0" "-2028" "0" "c.-2028A>G" "r.(=)" "p.(=)" "_1" ""
"0000066644" "00005999" "30" "-411" "0" "-411" "0" "c.-411C>T" "r.(=)" "p.(=)" "_1" ""
"0000066645" "00005999" "30" "-370" "0" "-370" "0" "c.-370T>G" "r.(=)" "p.(=)" "_1" "CYP2C8*1C"
"0000066646" "00005999" "30" "-271" "0" "-271" "0" "c.-271C>A" "r.(=)" "p.(=)" "_1" "CYP2C8*1B"
"0000066647" "00005999" "30" "332" "-64" "332" "-64" "c.332-64A>G" "r.(?)" "p.(=)" "2i" ""
"0000066648" "00005999" "30" "332" "-6" "332" "-6" "c.332-6dup" "r.(=)" "p.(=)" "2i" ""
"0000066649" "00005999" "30" "482" "-21" "482" "-21" "c.482-21T>A" "r.(?)" "p.(=)" "3i" ""
"0000066650" "00005999" "30" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Gly171Ser)" "4" "CYP2C8*6"
"0000066651" "00005999" "30" "1149" "49" "1149" "49" "c.1149+49T>A" "r.(?)" "p.(=)" "7i" ""
"0000066652" "00005999" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Gly410=)" "8" ""
"0000066653" "00005999" "30" "1291" "106" "1291" "106" "c.1291+106G>A" "r.(?)" "p.(=)" "8i" ""
"0000066654" "00005999" "30" "1291" "130" "1291" "130" "c.1291+130T>C" "r.(?)" "p.(=)" "8i" ""
"0000066655" "00005999" "30" "1497" "0" "1497" "0" "c.*24C>T" "r.(?)" "p.(=)" "9" ""
"0000066676" "00005999" "99" "475" "0" "475" "0" "c.475del" "r.(?)" "p.(Thr159Profs*19)" "3" "CYP2C8*5"
"0000066677" "00005999" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186*)" "4" "CYP2C8*7"
"0000066678" "00005999" "90" "556" "0" "556" "0" "c.556C>G" "r.(?)" "p.(Arg186Gly)" "4" "CYP2C8*8"
"0000066679" "00005999" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Gly410=)" "8" ""
"0000066706" "00005999" "90" "1210" "0" "1210" "0" "c.1210C>G" "r.(?)" "p.(Pro404Ala)" "8" ""
"0000066707" "00005999" "90" "1210" "0" "1210" "0" "c.1210C>G" "r.(?)" "p.Pro404Ala" "8" ""
"0000066709" "00005999" "70" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.Lys399Arg" "8" ""
"0000066756" "00005999" "90" "1210" "0" "1210" "0" "c.1210C>G" "r.(?)" "p.Pro404Ala" "8" ""
"0000541692" "00005999" "50" "1198" "0" "1198" "0" "c.1198G>T" "r.(?)" "p.(Glu400Ter)" "" ""
"0000648041" "00005999" "50" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Lys399Arg)" "" ""
"0000648042" "00005999" "10" "805" "0" "805" "0" "c.805A>T" "r.(?)" "p.(Ile269Phe)" "" ""
"0000669090" "00005999" "50" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Lys399Arg)" "" ""
"0000669091" "00005999" "10" "805" "0" "805" "0" "c.805A>T" "r.(?)" "p.(Ile269Phe)" "" ""
"0000804649" "00005999" "30" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Gly384Ser)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 92
"{{screeningid}}" "{{variantid}}"
"0000038799" "0000066547"
"0000038800" "0000066548"
"0000038801" "0000066549"
"0000038802" "0000066550"
"0000038802" "0000066563"
"0000038802" "0000066564"
"0000038802" "0000066565"
"0000038802" "0000066566"
"0000038802" "0000066567"
"0000038803" "0000066551"
"0000038803" "0000066568"
"0000038803" "0000066569"
"0000038803" "0000066570"
"0000038803" "0000066571"
"0000038803" "0000066572"
"0000038804" "0000066552"
"0000038805" "0000066553"
"0000038806" "0000066554"
"0000038807" "0000066555"
"0000038808" "0000066556"
"0000038809" "0000066557"
"0000038810" "0000066558"
"0000038811" "0000066559"
"0000038812" "0000066560"
"0000038813" "0000066561"
"0000038814" "0000066562"
"0000038816" "0000066575"
"0000038817" "0000066576"
"0000038818" "0000066577"
"0000038819" "0000066611"
"0000038819" "0000066615"
"0000038820" "0000066579"
"0000038821" "0000066580"
"0000038822" "0000066581"
"0000038823" "0000066582"
"0000038824" "0000066583"
"0000038825" "0000066584"
"0000038826" "0000066585"
"0000038827" "0000066586"
"0000038828" "0000066587"
"0000038829" "0000066588"
"0000038830" "0000066589"
"0000038831" "0000066590"
"0000038832" "0000066591"
"0000038833" "0000066592"
"0000038834" "0000066593"
"0000038835" "0000066594"
"0000038836" "0000066595"
"0000038836" "0000066604"
"0000038837" "0000066616"
"0000038837" "0000066617"
"0000038838" "0000066618"
"0000038839" "0000066619"
"0000038840" "0000066620"
"0000038840" "0000066621"
"0000038841" "0000066623"
"0000038841" "0000066624"
"0000038842" "0000066625"
"0000038843" "0000066626"
"0000038844" "0000066627"
"0000038845" "0000066628"
"0000038848" "0000066630"
"0000038849" "0000066629"
"0000038850" "0000066631"
"0000038851" "0000066632"
"0000038852" "0000066638"
"0000038853" "0000066639"
"0000038854" "0000066640"
"0000038855" "0000066641"
"0000038856" "0000066642"
"0000038857" "0000066643"
"0000038858" "0000066644"
"0000038859" "0000066645"
"0000038860" "0000066646"
"0000038861" "0000066647"
"0000038862" "0000066648"
"0000038863" "0000066649"
"0000038864" "0000066650"
"0000038865" "0000066651"
"0000038866" "0000066652"
"0000038867" "0000066653"
"0000038868" "0000066654"
"0000038869" "0000066655"
"0000038877" "0000066676"
"0000038878" "0000066677"
"0000038879" "0000066678"
"0000038880" "0000066679"
"0000038900" "0000066706"
"0000291352" "0000648041"
"0000291353" "0000648042"
"0000305402" "0000669090"
"0000305403" "0000669091"