### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TYMS) # 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}}" "TYMS" "thymidylate synthetase" "18" "p11.31-p11.21" "unknown" "NG_028255.1" "UD_132118871989" "" "https://www.LOVD.nl/TYMS" "" "1" "12441" "7298" "188350" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TYMS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-08 19:32:56" "00000" "2025-05-05 21:14:00" ## 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}}" "00022191" "TYMS" "thymidylate synthetase" "001" "NM_001071.2" "" "NP_001062.1" "" "" "" "-139" "1444" "942" "657604" "673499" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00119" "DKC" "dyskeratosis congenita (DKC)" "" "" "" "" "" "00015" "2013-03-14 10:08:13" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050230" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050538" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00415156" "" "" "" "1" "" "00006" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1" "00415157" "" "" "" "1" "" "00006" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "Fam2" "00415158" "" "" "" "1" "" "00006" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "2 generation family, 1 affected unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam3" "00415159" "" "" "" "2" "" "00006" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "2 generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam4PatII1" "00415160" "" "" "00415159" "1" "" "00006" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "sister" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam4PatII2" "00415161" "" "" "" "1" "" "00006" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam5" "00415162" "" "" "" "1" "" "00006" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam6" "00415163" "" "" "" "1" "" "00006" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam7" "00415164" "" "" "" "2" "" "00006" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "2 generation family, 2 affected sistesr, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "Fam8PatII1" "00415165" "" "" "" "1" "" "00006" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "sister" "F" "" "Germany" "" "0" "" "" "" "Fam8PatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00050230" "00198" "00050538" "00198" "00415156" "00119" "00415157" "00119" "00415158" "00119" "00415159" "00119" "00415160" "00119" "00415161" "00119" "00415162" "00119" "00415163" "00119" "00415164" "00119" "00415165" "00119" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00119, 00198 ## Count = 12 "{{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}}" "0000036842" "00198" "00050230" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000037150" "00198" "00050538" "00006" "Isolated (sporadic)" "" "microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "0000306957" "00119" "00415156" "00006" "Familial, autosomal recessive" "2y" "1y-abnormalities in skin pigmentation; 1y-nail dystrophy; leukoplakia; hair loss, thin eye lashes; normal blood count, raised HbF; low IgM; recurrent infections in first year, intrauterine growth restriction, gastro-oesophageal reflux, failure to thrive" "" "" "" "" "" "" "" "" "" "dyskeratosis congenita" "" "0000306958" "00119" "00415157" "00006" "Familial, autosomal recessive" "2y" "1d-abnormalities in skin pigmentation; 1d-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; low IgA/IgG; reduction of fingerprints" "" "" "" "" "" "" "" "" "" "dyskeratosis congenita" "" "0000306959" "00119" "00415158" "00006" "Familial, autosomal recessive" "3y" "1y-abnormalities in skin pigmentation; 1y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; normal blood count, raised HbF; low IgM; recurrent infections first year" "" "" "" "" "" "" "" "" "" "dyskeratosis congenita" "" "0000306960" "00119" "00415159" "00006" "Familial, autosomal recessive" "10m" "1y-abnormalities in skin pigmentation; 1y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; anemia (98 g/L), other blood counts normal; low IgA; short stature, recurrent respiratory/gastro-intestinal infections first year" "" "" "" "" "" "" "" "" "" "dyskeratosis congenita" "" "0000306961" "00119" "00415160" "00006" "Familial, autosomal recessive" "1y" "1y-abnormalities in skin pigmentation; nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; low IgA; abnormal teeth" "" "" "" "" "" "" "" "" "" "dyskeratosis congenita" "" "0000306962" "00119" "00415161" "00006" "Familial, autosomal recessive" "26y" "1y-abnormalities in skin pigmentation; 5y-nail dystrophy; no leukoplakia; hair loss, thin eye lashes; no hematological abnormalities; bilateral ptosis, tooth discolouration, intermediate increased response to mitomycin-C, basal carcinoma chest, squamous carcinoma and melanoma on leg, severe response to topical 5-FU treatment" "" "" "" "" "" "" "" "" "" "dyskeratosis congenita" "" "0000306963" "00119" "00415162" "00006" "Familial, autosomal recessive" "3y" "1d-abnormalities in skin pigmentation; 2y-nail dystrophy; leukoplakia; hair loss, thin eye lashes; normal blood count, raised HbF; no immune defects; abnormal facies, dysphagia, microcephaly." "" "" "" "" "" "" "" "" "" "dyskeratosis congenita" "" "0000306964" "00119" "00415163" "00006" "Familial, autosomal recessive" "4y" "1y-abnormalities in skin pigmentation; 2y-nail dystrophy; no leukoplakia; no hematological abnormalities; low IgA; epiphora, small testes; short stature" "" "" "" "" "" "" "" "" "" "dyskeratosis congenita" "" "0000306965" "00119" "00415164" "00006" "Familial, autosomal recessive" "27y" "6y-abnormalities in skin pigmentation; 6y-nail dystrophy; leukoplakia; hair loss, thin eye lashes; no hematological abnormalities" "" "" "" "" "" "" "" "" "" "dyskeratosis congenita" "" "0000306966" "00119" "00415165" "00006" "Familial, autosomal recessive" "25y" "abnormalities in skin pigmentation; nail dystrophy; leukoplakia; hair loss, thin eye lashes; no hematological abnormalities" "" "" "" "" "" "" "" "" "" "dyskeratosis congenita" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050175" "00050230" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050483" "00050538" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000416437" "00415156" "1" "00006" "00006" "2022-08-08 19:48:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416438" "00415157" "1" "00006" "00006" "2022-08-08 19:48:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416439" "00415158" "1" "00006" "00006" "2022-08-08 19:48:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416440" "00415159" "1" "00006" "00006" "2022-08-08 19:48:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416441" "00415160" "1" "00006" "00006" "2022-08-08 19:48:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416442" "00415161" "1" "00006" "00006" "2022-08-08 19:48:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416443" "00415162" "1" "00006" "00006" "2022-08-08 19:48:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416444" "00415163" "1" "00006" "00006" "2022-08-08 19:48:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416445" "00415164" "1" "00006" "00006" "2022-08-08 19:48:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416446" "00415165" "1" "00006" "00006" "2022-08-08 19:48:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000050175" "C18orf56" "0000416437" "ENOSF1" "0000416437" "TYMS" "0000416438" "ENOSF1" "0000416438" "TYMS" "0000416439" "ENOSF1" "0000416439" "TYMS" "0000416440" "ENOSF1" "0000416440" "TYMS" "0000416441" "ENOSF1" "0000416441" "TYMS" "0000416442" "ENOSF1" "0000416442" "TYMS" "0000416443" "ENOSF1" "0000416443" "TYMS" "0000416444" "ENOSF1" "0000416444" "TYMS" "0000416445" "ENOSF1" "0000416445" "TYMS" "0000416446" "ENOSF1" "0000416446" "TYMS" ## 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 = 37 "{{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}}" "0000079127" "3" "90" "18" "658170" "658170" "subst" "0.027113" "00006" "C18orf56_000001" "g.658170G>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.658170G>T" "" "pathogenic (recessive)" "" "0000079463" "0" "90" "18" "650816" "2804129" "del" "0" "00006" "SMCHD1_000093" "g.650816_2804129del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.44 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000565248" "0" "50" "18" "675344" "675344" "subst" "0.000251176" "01943" "ENOSF1_000002" "g.675344G>A" "" "" "" "ENOSF1(NM_017512.7):c.1207C>T (p.R403W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.675344G>A" "" "VUS" "" "0000565375" "0" "50" "18" "712518" "712518" "subst" "2.23487E-5" "01943" "ENOSF1_000003" "g.712518C>T" "" "" "" "ENOSF1(NM_017512.7):c.70G>A (p.G24S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.712518C>T" "" "VUS" "" "0000623885" "0" "50" "18" "677773" "677773" "subst" "0.000150345" "01943" "ENOSF1_000004" "g.677773A>G" "" "" "" "ENOSF1(NM_017512.7):c.1018T>C (p.S340P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.677773A>G" "" "VUS" "" "0000808571" "0" "30" "18" "685933" "685933" "subst" "1.21826E-5" "01943" "ENOSF1_000005" "g.685933C>T" "" "" "" "ENOSF1(NM_017512.7):c.729G>A (p.P243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874500" "21" "90" "18" "669103" "669104" "del" "0" "00006" "TYMS_000008" "g.669103_669104del" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "486_487delAA" "" "Germline" "" "" "0" "" "" "g.669103_669104del" "" "pathogenic" "" "0000874501" "11" "90" "18" "669103" "669104" "del" "0" "00006" "TYMS_000008" "g.669103_669104del" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "486_487delAA" "" "Germline" "" "" "0" "" "" "g.669103_669104del" "" "pathogenic" "" "0000874502" "11" "90" "18" "662209" "662209" "subst" "0" "00006" "TYMS_000006" "g.662209C>T" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.662209C>T" "" "pathogenic" "" "0000874503" "11" "90" "18" "669151" "669152" "ins" "0" "00006" "TYMS_000009" "g.669151_669152insTG" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.669151_669152insTG" "" "pathogenic" "" "0000874504" "11" "90" "18" "669151" "669152" "ins" "0" "00006" "TYMS_000009" "g.669151_669152insTG" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "" "" "0" "" "" "g.669151_669152insTG" "" "pathogenic" "" "0000874505" "11" "90" "18" "669097" "669097" "subst" "0" "00006" "TYMS_000007" "g.669097A>T" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "" "" "0" "" "" "g.669097A>T" "" "pathogenic" "" "0000874506" "1" "90" "18" "659694" "659694" "subst" "0" "00006" "TYMS_000005" "g.659694G>A" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "" "" "0" "" "" "g.659694G>A" "" "pathogenic" "" "0000874507" "1" "90" "18" "669174" "669174" "subst" "0" "00006" "TYMS_000010" "g.669174G>A" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "" "" "0" "" "" "g.669174G>A" "" "pathogenic" "" "0000874508" "1" "90" "18" "672866" "672866" "subst" "0" "00006" "TYMS_000011" "g.672866C>T" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.672866C>T" "" "pathogenic" "" "0000874509" "1" "90" "18" "672866" "672866" "subst" "0" "00006" "TYMS_000011" "g.672866C>T" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.672866C>T" "" "pathogenic" "" "0000874515" "11" "50" "18" "673086" "673086" "subst" "0" "00006" "TYMS_000001" "g.673086A>G" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "" "rs2790" "0" "" "" "g.673086A>G" "" "VUS (!)" "" "0000874516" "11" "50" "18" "657685" "657712" "dup" "0" "00006" "TYMS_000004" "g.657685_657712dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "rs45445694-3R, association with increased TYMS expression levels" "Germline" "" "rs45445694" "0" "" "" "g.657685_657712dup" "" "association" "" "0000874517" "11" "50" "18" "657685" "657712" "dup" "0" "00006" "TYMS_000004" "g.657685_657712dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "rs45445694-3R, association with increased TYMS expression levels" "Germline" "" "rs45445694" "0" "" "" "g.657685_657712dup" "" "association" "" "0000874518" "21" "50" "18" "657685" "657712" "dup" "0" "00006" "TYMS_000004" "g.657685_657712dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "rs45445694-3R, association with increased TYMS expression levels" "Germline" "yes" "rs45445694" "0" "" "" "g.657685_657712dup" "" "association" "" "0000874519" "21" "50" "18" "657685" "657712" "dup" "0" "00006" "TYMS_000004" "g.657685_657712dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "rs45445694-3R, association with increased TYMS expression levels" "Germline" "yes" "rs45445694" "0" "" "" "g.657685_657712dup" "" "association" "" "0000874520" "21" "50" "18" "657685" "657712" "dup" "0" "00006" "TYMS_000004" "g.657685_657712dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "rs45445694-3R, association with increased TYMS expression levels" "Germline" "" "rs45445694" "0" "" "" "g.657685_657712dup" "" "association" "" "0000874521" "3" "50" "18" "657685" "657712" "dup" "0" "00006" "TYMS_000004" "g.657685_657712dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "rs45445694-3R, association with increased TYMS expression levels" "Germline" "" "rs45445694" "0" "" "" "g.657685_657712dup" "" "association" "" "0000874522" "11" "50" "18" "657685" "657685" "subst" "0" "00006" "TYMS_000003" "g.657685G>C" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "associated with increased TYMS expression levels" "Germline" "" "rs2853542" "0" "" "" "g.657685G>C" "" "association" "" "0000874523" "11" "50" "18" "657685" "657685" "subst" "0" "00006" "TYMS_000003" "g.657685G>C" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "associated with increased TYMS expression levels" "Germline" "" "rs2853542" "0" "" "" "g.657685G>C" "" "association" "" "0000874524" "21" "50" "18" "657685" "657685" "subst" "0" "00006" "TYMS_000003" "g.657685G>C" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "associated with increased TYMS expression levels" "Germline" "yes" "rs2853542" "0" "" "" "g.657685G>C" "" "association" "" "0000874525" "21" "50" "18" "657685" "657685" "subst" "0" "00006" "TYMS_000003" "g.657685G>C" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "associated with increased TYMS expression levels" "Germline" "yes" "rs2853542" "0" "" "" "g.657685G>C" "" "association" "" "0000874526" "21" "50" "18" "657685" "657685" "subst" "0" "00006" "TYMS_000003" "g.657685G>C" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "associated with increased TYMS expression levels" "Germline" "" "rs2853542" "0" "" "" "g.657685G>C" "" "association" "" "0000874527" "21" "50" "18" "657685" "657685" "subst" "0" "00006" "TYMS_000003" "g.657685G>C" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "associated with increased TYMS expression levels" "Germline" "" "rs2853542" "0" "" "" "g.657685G>C" "" "association" "" "0000874528" "3" "50" "18" "673447" "673452" "dup" "0" "00006" "TYMS_000012" "g.673447_673452dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "" "rs11280056" "0" "" "" "g.673447_673452dup" "" "VUS (!)" "" "0000874529" "3" "50" "18" "673447" "673452" "dup" "0" "00006" "TYMS_000012" "g.673447_673452dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "" "rs11280056" "0" "" "" "g.673447_673452dup" "" "VUS (!)" "" "0000874530" "21" "50" "18" "673447" "673452" "dup" "0" "00006" "TYMS_000012" "g.673447_673452dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "yes" "rs11280056" "0" "" "" "g.673447_673452dup" "" "VUS (!)" "" "0000874531" "21" "50" "18" "673447" "673452" "dup" "0" "00006" "TYMS_000012" "g.673447_673452dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "yes" "rs11280056" "0" "" "" "g.673447_673452dup" "" "VUS (!)" "" "0000874532" "21" "50" "18" "673447" "673452" "dup" "0" "00006" "TYMS_000012" "g.673447_673452dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "" "rs11280056" "0" "" "" "g.673447_673452dup" "" "VUS (!)" "" "0000874533" "21" "50" "18" "673447" "673452" "dup" "0" "00006" "TYMS_000012" "g.673447_673452dup" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "" "Germline" "" "rs11280056" "0" "" "" "g.673447_673452dup" "" "VUS (!)" "" "0000874591" "0" "70" "18" "667547" "667547" "subst" "0" "00006" "TYMS_000002" "g.667547T>A" "" "{PMID:Tummala 2022:35931051}, {DOI:Tummala 2022:10.1016/j.ajhg.2022.06.014}" "" "" "post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1" "Germline" "" "" "0" "" "" "g.667547T>A" "" "VUS (!)" "" "0001042514" "0" "30" "18" "691060" "691060" "subst" "9.3423E-5" "01804" "ENOSF1_000009" "g.691060C>A" "" "" "" "ENOSF1(NM_017512.7):c.535+8G>T" "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 TYMS ## Count = 37 "{{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}}" "0000079127" "00022191" "90" "205" "223" "205" "223" "c.205+223G>T" "r.(=)" "p.(=)" "" "0000079463" "00022191" "00" "-6927" "0" "2132074" "0" "c.-6927_*2131132del" "r.0?" "p.0?" "" "0000565248" "00022191" "50" "3289" "0" "3289" "0" "c.*2347G>A" "r.(=)" "p.(=)" "" "0000565375" "00022191" "50" "40463" "0" "40463" "0" "c.*39521C>T" "r.(=)" "p.(=)" "" "0000623885" "00022191" "50" "5718" "0" "5718" "0" "c.*4776A>G" "r.(=)" "p.(=)" "" "0000808571" "00022191" "30" "13878" "0" "13878" "0" "c.*12936C>T" "r.(=)" "p.(=)" "" "0000874500" "00022191" "90" "486" "0" "487" "0" "c.486_487del" "r.(?)" "p.(Arg163SerfsTer3)" "" "0000874501" "00022191" "90" "486" "0" "487" "0" "c.486_487del" "r.(?)" "p.(Arg163SerfsTer3)" "" "0000874502" "00022191" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115Ter)" "" "0000874503" "00022191" "90" "534" "0" "535" "0" "c.534_535insTG" "r.(?)" "p.(Met179Ter)" "" "0000874504" "00022191" "90" "534" "0" "535" "0" "c.534_535insTG" "r.(?)" "p.(Met179Ter)" "" "0000874505" "00022191" "90" "480" "0" "480" "0" "c.480A>T" "r.(?)" "p.(Gln160His)" "" "0000874506" "00022191" "90" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Glu87Lys)" "" "0000874507" "00022191" "90" "556" "1" "556" "1" "c.556+1G>A" "r.spl" "p.?" "" "0000874508" "00022191" "90" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Ter)" "" "0000874509" "00022191" "90" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Ter)" "" "0000874515" "00022191" "50" "1031" "0" "1031" "0" "c.*89A>G" "r.(?)" "p.(?)" "" "0000874516" "00022191" "50" "-58" "0" "-31" "0" "c.-58_-31dup" "r.(?)" "p.(?)" "" "0000874517" "00022191" "50" "-58" "0" "-31" "0" "c.-58_-31dup" "r.(?)" "p.(?)" "" "0000874518" "00022191" "50" "-58" "0" "-31" "0" "c.-58_-31dup" "r.(?)" "p.(?)" "" "0000874519" "00022191" "50" "-58" "0" "-31" "0" "c.-58_-31dup" "r.(?)" "p.(?)" "" "0000874520" "00022191" "50" "-58" "0" "-31" "0" "c.-58_-31dup" "r.(?)" "p.(?)" "" "0000874521" "00022191" "50" "-58" "0" "-31" "0" "c.-58_-31dup" "r.(?)" "p.(?)" "" "0000874522" "00022191" "50" "-58" "0" "-58" "0" "c.-58G>C" "r.(?)" "p.(?)" "" "0000874523" "00022191" "50" "-58" "0" "-58" "0" "c.-58G>C" "r.(?)" "p.(?)" "" "0000874524" "00022191" "50" "-58" "0" "-58" "0" "c.-58G>C" "r.(?)" "p.(?)" "" "0000874525" "00022191" "50" "-58" "0" "-58" "0" "c.-58G>C" "r.(?)" "p.(?)" "" "0000874526" "00022191" "50" "-58" "0" "-58" "0" "c.-58G>C" "r.(?)" "p.(?)" "" "0000874527" "00022191" "50" "-58" "0" "-58" "0" "c.-58G>C" "r.(?)" "p.(?)" "" "0000874528" "00022191" "50" "1392" "0" "1397" "0" "c.*450_*455dup" "r.(?)" "p.(?)" "" "0000874529" "00022191" "50" "1392" "0" "1397" "0" "c.*450_*455dup" "r.(?)" "p.(?)" "" "0000874530" "00022191" "50" "1392" "0" "1397" "0" "c.*450_*455dup" "r.(?)" "p.(?)" "" "0000874531" "00022191" "50" "1392" "0" "1397" "0" "c.*450_*455dup" "r.(?)" "p.(?)" "" "0000874532" "00022191" "50" "1392" "0" "1397" "0" "c.*450_*455dup" "r.(?)" "p.(?)" "" "0000874533" "00022191" "50" "1392" "0" "1397" "0" "c.*450_*455dup" "r.(?)" "p.(?)" "" "0000874591" "00022191" "70" "455" "-1525" "455" "-1525" "c.455-1525T>A" "r.(?)" "p.(?)" "" "0001042514" "00022191" "30" "19005" "0" "19005" "0" "c.*18063C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000050175" "0000079127" "0000050483" "0000079463" "0000416437" "0000874500" "0000416437" "0000874516" "0000416437" "0000874522" "0000416437" "0000874528" "0000416438" "0000874501" "0000416438" "0000874517" "0000416438" "0000874523" "0000416438" "0000874529" "0000416439" "0000874502" "0000416439" "0000874518" "0000416439" "0000874524" "0000416439" "0000874530" "0000416440" "0000874503" "0000416440" "0000874519" "0000416440" "0000874525" "0000416440" "0000874531" "0000416441" "0000874504" "0000416441" "0000874520" "0000416441" "0000874526" "0000416441" "0000874532" "0000416442" "0000874505" "0000416442" "0000874515" "0000416442" "0000874521" "0000416442" "0000874527" "0000416442" "0000874533" "0000416443" "0000874506" "0000416444" "0000874507" "0000416445" "0000874508" "0000416445" "0000874591" "0000416446" "0000874509"