### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TYROBP)
# 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}}"
"TYROBP"	"TYRO protein tyrosine kinase binding protein"	"19"	"q13.1"	"unknown"	"NG_009304.1"	"UD_132084496083"	""	"https://www.LOVD.nl/TYROBP"	"Finnish Disease Database (FinDis) <http://www.findis.org/>"	"1"	"12449"	"7305"	"604142"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of <b>Juha Muilu</b> acting as curator until 2015."	""	"g"	"http://databases.lovd.nl/shared/refseq/TYROBP_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00008"	"2012-08-31 00:00:00"	"00006"	"2019-07-21 20:45:00"	"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}}"
"00000289"	"TYROBP"	"transcript variant 1"	"005"	"NM_003332.3"	""	"NP_003323.1"	""	""	""	"-81"	"510"	"342"	"36399211"	"36395303"	"00008"	"2012-08-31 10:01:04"	""	""


## 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}}"
"00032"	"PLOSL1"	"polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)"	"AR"	"221770"	""	""	""	"00001"	"2012-08-28 13:31:38"	"00006"	"2021-12-10 21:51:32"
"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 = 1
"{{geneid}}"	"{{diseaseid}}"
"TYROBP"	"00032"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00292096"	""	""	""	"211"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304657"	""	""	""	"11"	""	"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 = 2
"{{individualid}}"	"{{diseaseid}}"
"00292096"	"00198"
"00304657"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00032, 00198
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000293264"	"00292096"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305786"	"00304657"	"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 = 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}}"
"0000016235"	"0"	"99"	"19"	"36399129"	"36399129"	"subst"	"0"	"00015"	"TYROBP_000001"	"g.36399129A>G"	""	"{PMID:Kondo et al.2002: 12370476}"	""	"T>C point mutation disrupting the start codon"	"2 Japanese PLOSL patients (hom)"	"SUMMARY record"	"?"	"rs104894732"	"0"	""	""	"g.35908227A>G"	""	"pathogenic"	""
"0000016236"	"0"	"55"	"19"	"36398461"	"36398461"	"subst"	"0"	"00015"	"TYROBP_000002"	"g.36398461C>T"	""	"{PMID:Kaneko et al. 2010:20500450}"	""	"S38N"	"1 Japanese PLOSL patient"	"SUMMARY record"	"?"	""	""	""	""	"g.35907559C>T"	""	"VUS"	""
"0000016237"	"0"	"99"	"19"	"36396774"	"36402030"	"del"	"0"	"00015"	"TYROBP_000003"	"g.36396774_36402030del"	"0/120 FIN CON"	"{PMID:Paloneva 2000:10888890}, {PMID:Paloneva 2002:12080485}"	""	"deletion exons 1-4; PLOSL Fin"	"Major Finnish PLOSL mutation: 25 Finnish PLOSL patients (hom). Also 1 Swedish PLOSL family (hom), 1 Norwegian PLOSL family (hom) and 1 Brazilian PLOSL family."	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35905872_35911128del"	""	"pathogenic"	""
"0000016238"	"0"	"99"	"19"	"36398436"	"36398436"	"del"	"1.22051E-5"	"00015"	"TYROBP_000004"	"g.36398436del"	""	"{PMID:Paloneva et al. 2000:10888890}, {PMID:Kuroda et al. 2007:17125796), {PMID:Kondo et al. 2002:12370476}, {PMID:Klünemann et al. 2005:15883308},  {PMID:Nakamagoe et al. 2011:22082900}"	""	"V48X; PLOSL Jpn"	"9 Japanese PLOSL patients (most hom)"	"SUMMARY record"	"?"	""	"0"	""	""	"g.35907534del"	""	"pathogenic"	""
"0000016239"	"0"	"55"	"19"	"36398432"	"36398432"	"subst"	"4.06861E-6"	"00015"	"TYROBP_000005"	"g.36398432C>G"	""	"{PMID:Klünemann et al. 2005:15883308}"	""	""	"1 Portugese PLOSL family"	"SUMMARY record"	"yes"	""	""	""	""	"g.35907530C>G"	""	"VUS"	""
"0000016240"	"0"	"99"	"19"	"36398422"	"36398423"	"ins"	"0"	"00015"	"TYROBP_000006"	"g.36398422_36398423ins42"	""	"{PMID:Klünemann et al. 2005:15883308}"	""	"154-155ins42nt, Ins of 14 aa"	"1 Scottish PLOSL family"	"SUMMARY record"	"yes"	""	""	""	""	""	""	"pathogenic"	""
"0000016241"	"0"	"99"	"19"	"36398134"	"36398134"	"subst"	"0"	"00015"	"TYROBP_000007"	"g.36398134C>A"	""	"{PMID:Kuroda et al. 2007:17125796}"	""	"G262T: E87X"	"1 Japanese PLOSL patient (com-het)"	"SUMMARY record"	"?"	""	""	""	""	"g.35907232C>A"	""	"pathogenic"	""
"0000313593"	"0"	"50"	"19"	"36398458"	"36398458"	"subst"	"6.91698E-5"	"02329"	"TYROBP_000013"	"g.36398458G>A"	""	""	""	"TYROBP(NM_003332.4):c.119C>T (p.(Pro40Leu), p.P40L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35907556G>A"	""	"VUS"	""
"0000313594"	"0"	"10"	"19"	"36398414"	"36398414"	"subst"	"0.0145002"	"02329"	"TYROBP_000011"	"g.36398414C>A"	""	""	""	"TYROBP(NM_001173514.1):c.130G>T (p.(Val44Leu)), TYROBP(NM_003332.4):c.163G>T (p.V55L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35907512C>A"	""	"benign"	""
"0000313595"	"0"	"30"	"19"	"36398353"	"36398353"	"subst"	"1.6346E-5"	"02329"	"TYROBP_000010"	"g.36398353G>A"	""	""	""	"TYROBP(NM_003332.4):c.224C>T (p.A75V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35907451G>A"	""	"likely benign"	""
"0000313596"	"0"	"10"	"19"	"36398148"	"36398148"	"subst"	"9.79524E-5"	"02329"	"TYROBP_000008"	"g.36398148C>T"	""	""	""	"TYROBP(NM_003332.4):c.248G>A (p.R83H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35907246C>T"	""	"benign"	""
"0000313597"	"0"	"30"	"19"	"36399085"	"36399085"	"subst"	"0.00116227"	"02329"	"TYROBP_000015"	"g.36399085G>A"	""	""	""	"TYROBP(NM_001173514.1):c.46C>T (p.(Leu16=)), TYROBP(NM_003332.4):c.46C>T (p.L16=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35908183G>A"	""	"likely benign"	""
"0000313598"	"0"	"10"	"19"	"36398622"	"36398622"	"subst"	"0.00769763"	"02329"	"TYROBP_000014"	"g.36398622C>G"	""	""	""	"TYROBP(NM_003332.3):c.94+10G>C (p.(=)), TYROBP(NM_003332.4):c.94+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35907720C>G"	""	"benign"	""
"0000319184"	"0"	"10"	"19"	"36398454"	"36398454"	"subst"	"0.0264912"	"01943"	"TYROBP_000012"	"g.36398454G>C"	""	""	""	"TYROBP(NM_001173514.1):c.90C>G (p.(Gly30=)), TYROBP(NM_003332.3):c.123C>G (p.G41=), TYROBP(NM_003332.4):c.123C>G (p.G41=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35907552G>C"	""	"benign"	""
"0000319185"	"0"	"10"	"19"	"36398622"	"36398622"	"subst"	"0.00769763"	"01943"	"TYROBP_000014"	"g.36398622C>G"	""	""	""	"TYROBP(NM_003332.3):c.94+10G>C (p.(=)), TYROBP(NM_003332.4):c.94+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35907720C>G"	""	"benign"	""
"0000326384"	"0"	"50"	"19"	"36394267"	"36394267"	"del"	"0"	"01804"	"HCST_000001"	"g.36394267del"	""	""	""	"HCST(NM_001007469.1):c.58del (p.(Thr20ArgfsTer84))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35903365del"	""	"VUS"	""
"0000326385"	"0"	"50"	"19"	"36394268"	"36394268"	"subst"	"0"	"01804"	"HCST_000002"	"g.36394268C>T"	""	""	""	"HCST(NM_001007469.1):c.59C>T (p.(Thr20Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35903366C>T"	""	"VUS"	""
"0000326386"	"0"	"50"	"19"	"36394270"	"36394270"	"subst"	"0"	"01804"	"HCST_000003"	"g.36394270A>G"	""	""	""	"HCST(NM_001007469.1):c.61A>G (p.(Thr21Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35903368A>G"	""	"VUS"	""
"0000326388"	"0"	"30"	"19"	"36398454"	"36398454"	"subst"	"0.0264912"	"01804"	"TYROBP_000012"	"g.36398454G>C"	""	""	""	"TYROBP(NM_001173514.1):c.90C>G (p.(Gly30=)), TYROBP(NM_003332.3):c.123C>G (p.G41=), TYROBP(NM_003332.4):c.123C>G (p.G41=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35907552G>C"	""	"likely benign"	""
"0000326389"	"0"	"30"	"19"	"36398622"	"36398622"	"subst"	"0.00769763"	"01804"	"TYROBP_000014"	"g.36398622C>G"	""	""	""	"TYROBP(NM_003332.3):c.94+10G>C (p.(=)), TYROBP(NM_003332.4):c.94+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35907720C>G"	""	"likely benign"	""
"0000567034"	"0"	"30"	"19"	"36395484"	"36395484"	"subst"	"1.62945E-5"	"01943"	"TYROBP_000016"	"g.36395484G>A"	""	""	""	"TYROBP(NM_001173514.1):c.296C>T (p.(Pro99Leu)), TYROBP(NM_003332.3):c.329C>T (p.P110L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35904582G>A"	""	"likely benign"	""
"0000567036"	"0"	"30"	"19"	"36398362"	"36398362"	"subst"	"4.08163E-6"	"02329"	"TYROBP_000018"	"g.36398362C>G"	""	""	""	"TYROBP(NM_003332.4):c.215G>C (p.R72P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35907460C>G"	""	"likely benign"	""
"0000567037"	"0"	"30"	"19"	"36398414"	"36398414"	"subst"	"0.0145002"	"01804"	"TYROBP_000011"	"g.36398414C>A"	""	""	""	"TYROBP(NM_001173514.1):c.130G>T (p.(Val44Leu)), TYROBP(NM_003332.4):c.163G>T (p.V55L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35907512C>A"	""	"likely benign"	""
"0000567038"	"0"	"30"	"19"	"36398457"	"36398457"	"subst"	"2.03464E-5"	"02329"	"TYROBP_000019"	"g.36398457C>T"	""	""	""	"TYROBP(NM_003332.4):c.120G>A (p.P40=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35907555C>T"	""	"likely benign"	""
"0000567039"	"0"	"50"	"19"	"36398632"	"36398632"	"subst"	"1.22056E-5"	"01943"	"TYROBP_000020"	"g.36398632C>A"	""	""	""	"TYROBP(NM_003332.3):c.94G>T (p.D32Y), TYROBP(NM_003332.4):c.94G>T (p.D32Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35907730C>A"	""	"VUS"	""
"0000567040"	"0"	"30"	"19"	"36398632"	"36398632"	"subst"	"1.22056E-5"	"02329"	"TYROBP_000020"	"g.36398632C>A"	""	""	""	"TYROBP(NM_003332.3):c.94G>T (p.D32Y), TYROBP(NM_003332.4):c.94G>T (p.D32Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35907730C>A"	""	"likely benign"	""
"0000567041"	"0"	"30"	"19"	"36399053"	"36399053"	"subst"	"0"	"02329"	"TYROBP_000021"	"g.36399053G>A"	""	""	""	"TYROBP(NM_003332.4):c.61+17C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35908151G>A"	""	"likely benign"	""
"0000567042"	"0"	"30"	"19"	"36399085"	"36399085"	"subst"	"0.00116227"	"01804"	"TYROBP_000015"	"g.36399085G>A"	""	""	""	"TYROBP(NM_001173514.1):c.46C>T (p.(Leu16=)), TYROBP(NM_003332.4):c.46C>T (p.L16=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35908183G>A"	""	"likely benign"	""
"0000567043"	"0"	"30"	"19"	"36399126"	"36399126"	"subst"	"0.000272815"	"02329"	"TYROBP_000022"	"g.36399126C>T"	""	""	""	"TYROBP(NM_003332.4):c.5G>A (p.G2E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35908224C>T"	""	"likely benign"	""
"0000617558"	"0"	"30"	"19"	"36395516"	"36395516"	"subst"	"2.45034E-5"	"02329"	"TYROBP_000023"	"g.36395516C>T"	""	""	""	"TYROBP(NM_003332.4):c.297G>A (p.S99=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35904614C>T"	""	"likely benign"	""
"0000617559"	"0"	"30"	"19"	"36398481"	"36398481"	"subst"	"6.10302E-5"	"01943"	"TYROBP_000024"	"g.36398481A>T"	""	""	""	"TYROBP(NM_003332.3):c.96T>A (p.D32E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35907579A>T"	""	"likely benign"	""
"0000649953"	"1"	"30"	"19"	"36395446"	"36395446"	"subst"	"0.0350067"	"03575"	"TYROBP_000025"	"g.36395446T>G"	"211/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"211 heterozygous; {DB:CLININrs1802029}"	"Germline"	""	"rs1802029"	"0"	""	""	"g.35904544T>G"	""	"likely benign"	""
"0000669474"	"3"	"30"	"19"	"36395446"	"36395446"	"subst"	"0.0350067"	"03575"	"TYROBP_000025"	"g.36395446T>G"	"11/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"11 homozygous; {DB:CLININrs1802029}"	"Germline"	""	"rs1802029"	"0"	""	""	"g.35904544T>G"	""	"likely benign"	""
"0000727291"	"0"	"10"	"19"	"36398454"	"36398454"	"subst"	"0.0264912"	"02329"	"TYROBP_000012"	"g.36398454G>C"	""	""	""	"TYROBP(NM_001173514.1):c.90C>G (p.(Gly30=)), TYROBP(NM_003332.3):c.123C>G (p.G41=), TYROBP(NM_003332.4):c.123C>G (p.G41=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000727292"	"0"	"50"	"19"	"36398648"	"36398653"	"del"	"0"	"01943"	"TYROBP_000026"	"g.36398648_36398653del"	""	""	""	"TYROBP(NM_003332.3):c.74_79delTCCAGG (p.V25_Q26del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808830"	"0"	"30"	"19"	"36395484"	"36395484"	"subst"	"1.62945E-5"	"01804"	"TYROBP_000016"	"g.36395484G>A"	""	""	""	"TYROBP(NM_001173514.1):c.296C>T (p.(Pro99Leu)), TYROBP(NM_003332.3):c.329C>T (p.P110L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866043"	"0"	"30"	"19"	"36395550"	"36395566"	"dup"	"0"	"01804"	"TYROBP_000027"	"g.36395550_36395566dup"	""	""	""	"TYROBP(NM_001173514.1):c.244-27_244-11dup (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866044"	"0"	"50"	"19"	"36399115"	"36399115"	"subst"	"0.00032577"	"01804"	"TYROBP_000028"	"g.36399115G>A"	""	""	""	"TYROBP(NM_001173514.1):c.16C>T (p.(Pro6Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000951280"	"0"	"30"	"19"	"36399123"	"36399123"	"subst"	"1.22181E-5"	"01804"	"TYROBP_000029"	"g.36399123C>T"	""	""	""	"TYROBP(NM_003332.3):c.8G>A (p.(Gly3Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000983403"	"0"	"30"	"19"	"36398170"	"36398170"	"subst"	"0"	"01804"	"TYROBP_000030"	"g.36398170G>A"	""	""	""	"TYROBP(NM_003332.3):c.230-4C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001004669"	"0"	"30"	"19"	"36394781"	"36394781"	"subst"	"0"	"01804"	"TYROBP_000031"	"g.36394781C>A"	""	""	""	"HCST(NM_014266.3):c.217C>A (p.(Arg73Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001015786"	"0"	"50"	"19"	"36395386"	"36395386"	"subst"	"0.000435227"	"01804"	"TYROBP_000032"	"g.36395386G>A"	""	""	""	"TYROBP(NM_001173514.1):c.*85C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001015787"	"0"	"30"	"19"	"36395388"	"36395388"	"subst"	"0.00296881"	"01804"	"TYROBP_000033"	"g.36395388G>A"	""	""	""	"TYROBP(NM_001173514.1):c.*83C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042888"	"0"	"30"	"19"	"36398144"	"36398144"	"subst"	"5.9703E-5"	"01804"	"TYROBP_000034"	"g.36398144G>A"	""	""	""	"TYROBP(NM_001173514.1):c.219C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042889"	"0"	"50"	"19"	"36398458"	"36398458"	"subst"	"6.91698E-5"	"01804"	"TYROBP_000013"	"g.36398458G>A"	""	""	""	"TYROBP(NM_003332.4):c.119C>T (p.(Pro40Leu), p.P40L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes TYROBP
## 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}}"
"0000016235"	"00000289"	"99"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(2u>c)"	"p.0"	"01b"
"0000016236"	"00000289"	"55"	"116"	"0"	"116"	"0"	"c.116G>A"	"r.(116g>a)"	"p.(Ser39Asn)"	"03"
"0000016237"	"00000289"	"99"	"-2900"	"0"	"277"	"-1238"	"c.-2900_277-1238del"	"r.0"	"p.0"	"_1b_4i"
"0000016238"	"00000289"	"99"	"141"	"0"	"141"	"0"	"c.141del"	"r.(?)"	"p.0"	"03"
"0000016239"	"00000289"	"55"	"145"	"0"	"145"	"0"	"c.145G>C"	"r.(145g>c)"	"p.(Gly49Arg)"	"03"
"0000016240"	"00000289"	"99"	"154"	"0"	"155"	"0"	"c.154_155ins42"	"r.(154_155ins42)"	"p.?"	"03"
"0000016241"	"00000289"	"99"	"262"	"0"	"262"	"0"	"c.262G>T"	"r.(262g>u)"	"p.(Glu88*)"	"04"
"0000313593"	"00000289"	"50"	"119"	"0"	"119"	"0"	"c.119C>T"	"r.(?)"	"p.(Pro40Leu)"	""
"0000313594"	"00000289"	"10"	"163"	"0"	"163"	"0"	"c.163G>T"	"r.(?)"	"p.(Val55Leu)"	""
"0000313595"	"00000289"	"30"	"224"	"0"	"224"	"0"	"c.224C>T"	"r.(?)"	"p.(Ala75Val)"	""
"0000313596"	"00000289"	"10"	"248"	"0"	"248"	"0"	"c.248G>A"	"r.(?)"	"p.(Arg83His)"	""
"0000313597"	"00000289"	"30"	"46"	"0"	"46"	"0"	"c.46C>T"	"r.(?)"	"p.(Leu16=)"	""
"0000313598"	"00000289"	"10"	"94"	"10"	"94"	"10"	"c.94+10G>C"	"r.(=)"	"p.(=)"	""
"0000319184"	"00000289"	"10"	"123"	"0"	"123"	"0"	"c.123C>G"	"r.(?)"	"p.(Gly41=)"	""
"0000319185"	"00000289"	"10"	"94"	"10"	"94"	"10"	"c.94+10G>C"	"r.(=)"	"p.(=)"	""
"0000326384"	"00000289"	"50"	"1546"	"0"	"1546"	"0"	"c.*1204del"	"r.(?)"	"p.(=)"	""
"0000326385"	"00000289"	"50"	"1545"	"0"	"1545"	"0"	"c.*1203G>A"	"r.(=)"	"p.(=)"	""
"0000326386"	"00000289"	"50"	"1543"	"0"	"1543"	"0"	"c.*1201T>C"	"r.(=)"	"p.(=)"	""
"0000326388"	"00000289"	"30"	"123"	"0"	"123"	"0"	"c.123C>G"	"r.(?)"	"p.(Gly41=)"	""
"0000326389"	"00000289"	"30"	"94"	"10"	"94"	"10"	"c.94+10G>C"	"r.(=)"	"p.(=)"	""
"0000567034"	"00000289"	"30"	"329"	"0"	"329"	"0"	"c.329C>T"	"r.(?)"	"p.(Pro110Leu)"	""
"0000567036"	"00000289"	"30"	"215"	"0"	"215"	"0"	"c.215G>C"	"r.(?)"	"p.(Arg72Pro)"	""
"0000567037"	"00000289"	"30"	"163"	"0"	"163"	"0"	"c.163G>T"	"r.(?)"	"p.(Val55Leu)"	""
"0000567038"	"00000289"	"30"	"120"	"0"	"120"	"0"	"c.120G>A"	"r.(?)"	"p.(Pro40=)"	""
"0000567039"	"00000289"	"50"	"94"	"0"	"94"	"0"	"c.94G>T"	"r.(?)"	"p.(Asp32Tyr)"	""
"0000567040"	"00000289"	"30"	"94"	"0"	"94"	"0"	"c.94G>T"	"r.(?)"	"p.(Asp32Tyr)"	""
"0000567041"	"00000289"	"30"	"61"	"17"	"61"	"17"	"c.61+17C>T"	"r.(=)"	"p.(=)"	""
"0000567042"	"00000289"	"30"	"46"	"0"	"46"	"0"	"c.46C>T"	"r.(?)"	"p.(Leu16=)"	""
"0000567043"	"00000289"	"30"	"5"	"0"	"5"	"0"	"c.5G>A"	"r.(?)"	"p.(Gly2Glu)"	""
"0000617558"	"00000289"	"30"	"297"	"0"	"297"	"0"	"c.297G>A"	"r.(?)"	"p.(Ser99=)"	""
"0000617559"	"00000289"	"30"	"96"	"0"	"96"	"0"	"c.96T>A"	"r.(?)"	"p.(Asp32Glu)"	""
"0000649953"	"00000289"	"30"	"367"	"0"	"367"	"0"	"c.*25A>C"	"r.(=)"	"p.(=)"	""
"0000669474"	"00000289"	"30"	"367"	"0"	"367"	"0"	"c.*25A>C"	"r.(=)"	"p.(=)"	""
"0000727291"	"00000289"	"10"	"123"	"0"	"123"	"0"	"c.123C>G"	"r.(?)"	"p.(Gly41=)"	""
"0000727292"	"00000289"	"50"	"74"	"0"	"79"	"0"	"c.74_79del"	"r.(?)"	"p.(Val25_Gln26del)"	""
"0000808830"	"00000289"	"30"	"329"	"0"	"329"	"0"	"c.329C>T"	"r.(?)"	"p.(Pro110Leu)"	""
"0000866043"	"00000289"	"30"	"277"	"-27"	"277"	"-11"	"c.277-27_277-11dup"	"r.(=)"	"p.(=)"	""
"0000866044"	"00000289"	"50"	"16"	"0"	"16"	"0"	"c.16C>T"	"r.(?)"	"p.(Pro6Ser)"	""
"0000951280"	"00000289"	"30"	"8"	"0"	"8"	"0"	"c.8G>A"	"r.(?)"	"p.(Gly3Glu)"	""
"0000983403"	"00000289"	"30"	"230"	"-4"	"230"	"-4"	"c.230-4C>T"	"r.spl?"	"p.?"	""
"0001004669"	"00000289"	"30"	"1032"	"0"	"1032"	"0"	"c.*690G>T"	"r.(=)"	"p.(=)"	""
"0001015786"	"00000289"	"50"	"427"	"0"	"427"	"0"	"c.*85C>T"	"r.(=)"	"p.(=)"	""
"0001015787"	"00000289"	"30"	"425"	"0"	"425"	"0"	"c.*83C>T"	"r.(=)"	"p.(=)"	""
"0001042888"	"00000289"	"30"	"252"	"0"	"252"	"0"	"c.252C>T"	"r.(?)"	"p.(=)"	""
"0001042889"	"00000289"	"50"	"119"	"0"	"119"	"0"	"c.119C>T"	"r.(?)"	"p.(Pro40Leu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000293264"	"0000649953"
"0000305786"	"0000669474"