### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNFAIP3) # 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}}" "TNFAIP3" "tumor necrosis factor, alpha-induced protein 3" "6" "q23-q25" "unknown" "NG_032761.1" "UD_136021324413" "" "https://www.LOVD.nl/TNFAIP3" "" "1" "11896" "7128" "191163" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/TNFAIP3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-07-13 00:00:00" "00006" "2017-07-06 08:11:37" "00000" "2022-05-09 15:51:19" ## 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}}" "00024292" "TNFAIP3" "transcript variant 3" "003" "NM_006290.3" "" "NP_006281.1" "" "" "" "-322" "4368" "2373" "138188325" "138204451" "00006" "2017-07-06 08:09:36" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "05793" "virus, COVID19" "virus, COVID-19, susceptibility to" "XLR" "" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2021-12-11 13:56:28" "06690" "AISBL" "Autoinflammatory syndrome, familial, Behcet-like" "AD" "616744" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TNFAIP3" "06690" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00293992" "" "" "" "142" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293993" "" "" "" "175" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305057" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305058" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334303" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334860" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334901" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334903" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00293992" "00198" "00293993" "00198" "00305057" "00198" "00305058" "00198" "00334303" "05793" "00334860" "05793" "00334901" "05793" "00334903" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05793, 06690 ## Count = 4 "{{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}}" "0000253113" "05793" "00334303" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253257" "05793" "00334860" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253271" "05793" "00334901" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253272" "05793" "00334903" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295160" "00293992" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295161" "00293993" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306186" "00305057" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306187" "00305058" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335530" "00334303" "1" "04011" "04011" "2021-02-27 06:32:43" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336089" "00334860" "1" "04011" "04011" "2021-03-02 06:23:36" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336130" "00334901" "1" "04011" "04011" "2021-03-02 12:22:31" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336132" "00334903" "1" "04011" "04011" "2021-03-02 12:26:37" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 45 "{{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}}" "0000251979" "0" "30" "6" "138196008" "138196008" "subst" "0.000118105" "02326" "TNFAIP3_000004" "g.138196008A>G" "" "" "" "TNFAIP3(NM_001270507.1):c.322A>G (p.T108A), TNFAIP3(NM_001270508.2):c.322A>G (p.T108A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137874871A>G" "" "likely benign" "" "0000252424" "0" "70" "6" "138201259" "138201259" "del" "0" "02326" "TNFAIP3_000006" "g.138201259del" "" "" "" "TNFAIP3(NM_001270508.2):c.1958delA (p.N653Tfs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137880122del" "" "likely pathogenic" "" "0000314610" "0" "30" "6" "138192538" "138192538" "subst" "0.0000324847" "02326" "TNFAIP3_000001" "g.138192538T>G" "" "" "" "TNFAIP3(NM_001270508.2):c.174T>G (p.P58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137871401T>G" "" "likely benign" "" "0000314611" "0" "30" "6" "138202314" "138202314" "subst" "0.000480245" "02326" "TNFAIP3_000007" "g.138202314G>A" "" "" "" "TNFAIP3(NM_001270507.1):c.2231G>A (p.G744D), TNFAIP3(NM_001270508.2):c.2231G>A (p.G744D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137881177G>A" "" "likely benign" "" "0000314612" "0" "30" "6" "138192670" "138192670" "subst" "0.000421792" "02326" "TNFAIP3_000003" "g.138192670T>C" "" "" "" "TNFAIP3(NM_001270508.2):c.295+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137871533T>C" "" "likely benign" "" "0000314613" "0" "30" "6" "138192667" "138192667" "subst" "0.000110448" "02326" "TNFAIP3_000002" "g.138192667T>C" "" "" "" "TNFAIP3(NM_001270507.1):c.295+8T>C, TNFAIP3(NM_001270508.2):c.295+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137871530T>C" "" "likely benign" "" "0000527328" "0" "50" "6" "138192624" "138192624" "subst" "0.0000121897" "01943" "TNFAIP3_000008" "g.138192624G>A" "" "" "" "TNFAIP3(NM_001270508.2):c.260G>A (p.R87Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137871487G>A" "" "VUS" "" "0000527329" "0" "30" "6" "138196847" "138196847" "subst" "0.0000446733" "01943" "TNFAIP3_000009" "g.138196847A>G" "" "" "" "TNFAIP3(NM_001270508.2):c.509A>G (p.N170S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137875710A>G" "" "likely benign" "" "0000527330" "0" "50" "6" "138196946" "138196946" "subst" "0" "02327" "TNFAIP3_000010" "g.138196946T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137875809T>G" "" "VUS" "" "0000527331" "0" "30" "6" "138197299" "138197299" "subst" "0" "01943" "TNFAIP3_000011" "g.138197299G>T" "" "" "" "TNFAIP3(NM_001270508.2):c.801G>T (p.G267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137876162G>T" "" "likely benign" "" "0000527332" "0" "30" "6" "138200216" "138200216" "subst" "0.000442672" "01943" "TNFAIP3_000012" "g.138200216C>T" "" "" "" "TNFAIP3(NM_001270508.2):c.1634C>T (p.A545V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137879079C>T" "" "likely benign" "" "0000527333" "0" "50" "6" "138200251" "138200257" "dup" "0" "01943" "TNFAIP3_000013" "g.138200251_138200257dup" "" "" "" "TNFAIP3(NM_001270508.2):c.1669_1675dupCCTTCCT (p.C559Sfs*115)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137879114_137879120dup" "" "VUS" "" "0000527334" "0" "30" "6" "138201240" "138201240" "subst" "0.0018801" "02326" "TNFAIP3_000014" "g.138201240A>C" "" "" "" "TNFAIP3(NM_001270507.1):c.1939A>C (p.T647P), TNFAIP3(NM_001270508.2):c.1939A>C (p.T647P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137880103A>C" "" "likely benign" "" "0000527335" "0" "30" "6" "138202173" "138202173" "subst" "0.000325278" "01943" "TNFAIP3_000015" "g.138202173G>A" "" "" "" "TNFAIP3(NM_001270507.1):c.2090G>A (p.R697K), TNFAIP3(NM_001270508.2):c.2090G>A (p.R697K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137881036G>A" "" "likely benign" "" "0000527336" "0" "30" "6" "138202173" "138202173" "subst" "0.000325278" "02326" "TNFAIP3_000015" "g.138202173G>A" "" "" "" "TNFAIP3(NM_001270507.1):c.2090G>A (p.R697K), TNFAIP3(NM_001270508.2):c.2090G>A (p.R697K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137881036G>A" "" "likely benign" "" "0000527337" "0" "30" "6" "138202314" "138202314" "subst" "0.000480245" "01943" "TNFAIP3_000007" "g.138202314G>A" "" "" "" "TNFAIP3(NM_001270507.1):c.2231G>A (p.G744D), TNFAIP3(NM_001270508.2):c.2231G>A (p.G744D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137881177G>A" "" "likely benign" "" "0000610054" "0" "30" "6" "138192667" "138192667" "subst" "0.000110448" "01943" "TNFAIP3_000002" "g.138192667T>C" "" "" "" "TNFAIP3(NM_001270507.1):c.295+8T>C, TNFAIP3(NM_001270508.2):c.295+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137871530T>C" "" "likely benign" "" "0000610055" "0" "30" "6" "138196008" "138196008" "subst" "0.000118105" "01943" "TNFAIP3_000004" "g.138196008A>G" "" "" "" "TNFAIP3(NM_001270507.1):c.322A>G (p.T108A), TNFAIP3(NM_001270508.2):c.322A>G (p.T108A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137874871A>G" "" "likely benign" "" "0000610056" "0" "30" "6" "138196957" "138196957" "subst" "0.000121837" "01943" "TNFAIP3_000016" "g.138196957A>C" "" "" "" "TNFAIP3(NM_001270507.1):c.619A>C (p.I207L), TNFAIP3(NM_006290.4):c.619A>C (p.I207L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137875820A>C" "" "likely benign" "" "0000610057" "0" "30" "6" "138198373" "138198373" "subst" "0.0000659131" "01943" "TNFAIP3_000017" "g.138198373T>G" "" "" "" "TNFAIP3(NM_001270507.1):c.966T>G (p.T322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137877236T>G" "" "likely benign" "" "0000610058" "0" "50" "6" "138200391" "138200391" "subst" "0.0000975285" "01943" "TNFAIP3_000018" "g.138200391G>T" "" "" "" "TNFAIP3(NM_001270508.2):c.1809G>T (p.G603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137879254G>T" "" "VUS" "" "0000610059" "0" "30" "6" "138202352" "138202352" "subst" "0.000012344" "01943" "TNFAIP3_000019" "g.138202352C>A" "" "" "" "TNFAIP3(NM_001270508.2):c.2269C>A (p.P757T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137881215C>A" "" "likely benign" "" "0000621642" "0" "30" "6" "138202352" "138202352" "subst" "0.000012344" "02326" "TNFAIP3_000019" "g.138202352C>A" "" "" "" "TNFAIP3(NM_001270508.2):c.2269C>A (p.P757T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137881215C>A" "" "likely benign" "" "0000651849" "1" "50" "6" "138195991" "138195991" "subst" "0.0136126" "03575" "TNFAIP3_000020" "g.138195991A>G" "142/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 142 heterozygous; {DB:CLININrs146534657}" "Germline" "" "rs146534657" "0" "" "" "g.137874854A>G" "" "VUS" "" "0000651850" "1" "50" "6" "138196066" "138196066" "subst" "0.0533933" "03575" "TNFAIP3_000021" "g.138196066T>G" "175/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 175 heterozygous; {DB:CLININrs2230926}" "Germline" "" "rs2230926" "0" "" "" "g.137874929T>G" "" "VUS" "" "0000655491" "0" "30" "6" "138192646" "138192646" "subst" "0.000459727" "01943" "TNFAIP3_000022" "g.138192646G>A" "" "" "" "TNFAIP3(NM_001270507.1):c.282G>A (p.A94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137871509G>A" "" "likely benign" "" "0000655492" "0" "50" "6" "138196020" "138196020" "subst" "0" "01943" "TNFAIP3_000023" "g.138196020A>G" "" "" "" "TNFAIP3(NM_001270507.1):c.334A>G (p.M112V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137874883A>G" "" "VUS" "" "0000655493" "0" "30" "6" "138200310" "138200310" "subst" "0.000268467" "01943" "TNFAIP3_000024" "g.138200310G>A" "" "" "" "TNFAIP3(NM_001270507.1):c.1728G>A (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137879173G>A" "" "likely benign" "" "0000655494" "0" "30" "6" "138202447" "138202447" "subst" "0.000463503" "01943" "TNFAIP3_000025" "g.138202447G>A" "" "" "" "TNFAIP3(NM_001270507.1):c.2364G>A (p.M788I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137881310G>A" "" "likely benign" "" "0000669874" "3" "50" "6" "138195991" "138195991" "subst" "0.0136126" "03575" "TNFAIP3_000020" "g.138195991A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 homozygous; {DB:CLININrs146534657}" "Germline" "" "rs146534657" "0" "" "" "g.137874854A>G" "" "VUS" "" "0000669875" "3" "50" "6" "138196066" "138196066" "subst" "0.0533933" "03575" "TNFAIP3_000021" "g.138196066T>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 2 homozygous; {DB:CLININrs2230926}" "Germline" "" "rs2230926" "0" "" "" "g.137874929T>G" "" "VUS" "" "0000677639" "0" "30" "6" "138196151" "138196151" "subst" "0.000585728" "02326" "TNFAIP3_000026" "g.138196151G>A" "" "" "" "TNFAIP3(NM_001270508.2):c.465G>A (p.T155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677640" "0" "70" "6" "138199891" "138199891" "del" "0" "02327" "TNFAIP3_000027" "g.138199891del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689633" "0" "10" "6" "138196066" "138196066" "subst" "0.0533933" "02325" "TNFAIP3_000021" "g.138196066T>G" "" "" "" "TNFAIP3(NM_006290.4):c.380T>G (p.F127C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689634" "0" "50" "6" "138199876" "138199876" "subst" "0.00000815727" "01943" "TNFAIP3_000028" "g.138199876G>A" "" "" "" "TNFAIP3(NM_001270507.1):c.1294G>A (p.G432S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689635" "0" "30" "6" "138201240" "138201240" "subst" "0.0018801" "01943" "TNFAIP3_000014" "g.138201240A>C" "" "" "" "TNFAIP3(NM_001270507.1):c.1939A>C (p.T647P), TNFAIP3(NM_001270508.2):c.1939A>C (p.T647P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000733996" "0" "70" "6" "138202329" "138202329" "subst" "0.000032624" "04011" "TNFAIP3_000029" "g.138202329G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735088" "0" "70" "6" "138196957" "138196957" "subst" "0.000121837" "04011" "TNFAIP3_000016" "g.138196957A>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735198" "0" "70" "6" "138199980" "138199980" "subst" "0.000308971" "04011" "TNFAIP3_000031" "g.138199980C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735208" "0" "70" "6" "138192633" "138192633" "subst" "0" "04011" "TNFAIP3_000030" "g.138192633G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000802332" "0" "50" "6" "138198336" "138198336" "subst" "0.00000813584" "02325" "TNFAIP3_000032" "g.138198336T>C" "" "" "" "TNFAIP3(NM_006290.4):c.929T>C (p.I310T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802333" "0" "30" "6" "138199671" "138199671" "subst" "0.0015187" "02326" "TNFAIP3_000033" "g.138199671G>A" "" "" "" "TNFAIP3(NM_006290.4):c.1089G>A (p.G363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851089" "0" "30" "6" "138202258" "138202258" "subst" "0.00213865" "01943" "TNFAIP3_000034" "g.138202258G>A" "" "" "" "TNFAIP3(NM_001270507.1):c.2175G>A (p.L725=), TNFAIP3(NM_006290.4):c.2175G>A (p.L725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851090" "0" "30" "6" "138202258" "138202258" "subst" "0.00213865" "02326" "TNFAIP3_000034" "g.138202258G>A" "" "" "" "TNFAIP3(NM_001270507.1):c.2175G>A (p.L725=), TNFAIP3(NM_006290.4):c.2175G>A (p.L725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860184" "0" "30" "6" "138196957" "138196957" "subst" "0.000121837" "02326" "TNFAIP3_000016" "g.138196957A>C" "" "" "" "TNFAIP3(NM_001270507.1):c.619A>C (p.I207L), TNFAIP3(NM_006290.4):c.619A>C (p.I207L)" "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 TNFAIP3 ## Count = 45 "{{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}}" "0000251979" "00024292" "30" "322" "0" "322" "0" "c.322A>G" "r.(?)" "p.(Thr108Ala)" "" "0000252424" "00024292" "70" "1958" "0" "1958" "0" "c.1958del" "r.(?)" "p.(Asn653ThrfsTer44)" "" "0000314610" "00024292" "30" "174" "0" "174" "0" "c.174T>G" "r.(?)" "p.(Pro58=)" "" "0000314611" "00024292" "30" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Gly744Asp)" "" "0000314612" "00024292" "30" "295" "11" "295" "11" "c.295+11T>C" "r.(=)" "p.(=)" "" "0000314613" "00024292" "30" "295" "8" "295" "8" "c.295+8T>C" "r.(=)" "p.(=)" "" "0000527328" "00024292" "50" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87Gln)" "" "0000527329" "00024292" "30" "509" "0" "509" "0" "c.509A>G" "r.(?)" "p.(Asn170Ser)" "" "0000527330" "00024292" "50" "608" "0" "608" "0" "c.608T>G" "r.(?)" "p.(Leu203Arg)" "" "0000527331" "00024292" "30" "801" "0" "801" "0" "c.801G>T" "r.(?)" "p.(Gly267=)" "" "0000527332" "00024292" "30" "1634" "0" "1634" "0" "c.1634C>T" "r.(?)" "p.(Ala545Val)" "" "0000527333" "00024292" "50" "1669" "0" "1675" "0" "c.1669_1675dup" "r.(?)" "p.(Cys559SerfsTer115)" "" "0000527334" "00024292" "30" "1939" "0" "1939" "0" "c.1939A>C" "r.(?)" "p.(Thr647Pro)" "" "0000527335" "00024292" "30" "2090" "0" "2090" "0" "c.2090G>A" "r.(?)" "p.(Arg697Lys)" "" "0000527336" "00024292" "30" "2090" "0" "2090" "0" "c.2090G>A" "r.(?)" "p.(Arg697Lys)" "" "0000527337" "00024292" "30" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Gly744Asp)" "" "0000610054" "00024292" "30" "295" "8" "295" "8" "c.295+8T>C" "r.(=)" "p.(=)" "" "0000610055" "00024292" "30" "322" "0" "322" "0" "c.322A>G" "r.(?)" "p.(Thr108Ala)" "" "0000610056" "00024292" "30" "619" "0" "619" "0" "c.619A>C" "r.(?)" "p.(Ile207Leu)" "" "0000610057" "00024292" "30" "966" "0" "966" "0" "c.966T>G" "r.(?)" "p.(Thr322=)" "" "0000610058" "00024292" "50" "1809" "0" "1809" "0" "c.1809G>T" "r.(?)" "p.(Gly603=)" "" "0000610059" "00024292" "30" "2269" "0" "2269" "0" "c.2269C>A" "r.(?)" "p.(Pro757Thr)" "" "0000621642" "00024292" "30" "2269" "0" "2269" "0" "c.2269C>A" "r.(?)" "p.(Pro757Thr)" "" "0000651849" "00024292" "50" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Asn102Ser)" "" "0000651850" "00024292" "50" "380" "0" "380" "0" "c.380T>G" "r.(?)" "p.(Phe127Cys)" "" "0000655491" "00024292" "30" "282" "0" "282" "0" "c.282G>A" "r.(?)" "p.(Ala94=)" "" "0000655492" "00024292" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Met112Val)" "" "0000655493" "00024292" "30" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Pro576=)" "" "0000655494" "00024292" "30" "2364" "0" "2364" "0" "c.2364G>A" "r.(?)" "p.(Met788Ile)" "" "0000669874" "00024292" "50" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Asn102Ser)" "" "0000669875" "00024292" "50" "380" "0" "380" "0" "c.380T>G" "r.(?)" "p.(Phe127Cys)" "" "0000677639" "00024292" "30" "465" "0" "465" "0" "c.465G>A" "r.(?)" "p.(Thr155=)" "" "0000677640" "00024292" "70" "1309" "0" "1309" "0" "c.1309del" "r.(?)" "p.(Ala437ProfsTer40)" "" "0000689633" "00024292" "10" "380" "0" "380" "0" "c.380T>G" "r.(?)" "p.(Phe127Cys)" "" "0000689634" "00024292" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Gly432Ser)" "" "0000689635" "00024292" "30" "1939" "0" "1939" "0" "c.1939A>C" "r.(?)" "p.(Thr647Pro)" "" "0000733996" "00024292" "50" "2246" "0" "2246" "0" "c.2246G>A" "r.(?)" "p.(Arg749Gln)" "" "0000735088" "00024292" "50" "619" "0" "619" "0" "c.619A>C" "r.(?)" "p.(Ile207Leu)" "" "0000735198" "00024292" "50" "1398" "0" "1398" "0" "c.1398C>G" "r.(?)" "p.(Ser466Arg)" "" "0000735208" "00024292" "50" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90Gln)" "" "0000802332" "00024292" "50" "929" "0" "929" "0" "c.929T>C" "r.(?)" "p.(Ile310Thr)" "" "0000802333" "00024292" "30" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Gly363=)" "" "0000851089" "00024292" "30" "2175" "0" "2175" "0" "c.2175G>A" "r.(?)" "p.(Leu725=)" "" "0000851090" "00024292" "30" "2175" "0" "2175" "0" "c.2175G>A" "r.(?)" "p.(Leu725=)" "" "0000860184" "00024292" "30" "619" "0" "619" "0" "c.619A>C" "r.(?)" "p.(Ile207Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000295160" "0000651849" "0000295161" "0000651850" "0000306186" "0000669874" "0000306187" "0000669875" "0000335530" "0000733996" "0000336089" "0000735088" "0000336130" "0000735198" "0000336132" "0000735208"