### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = OOEP)
# 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}}"
"OOEP"	"oocyte expressed protein"	"6"	"q13"	"unknown"	"NC_000006.11"	"UD_136019359577"	""	"https://www.LOVD.nl/OOEP"	""	"1"	"21382"	"441161"	"611689"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/OOEP_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2024-11-11 18:27:16"	"00006"	"2024-11-11 18:26:27"


## 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}}"
"00015047"	"OOEP"	"oocyte expressed protein"	"001"	"NM_001080507.2"	""	"NP_001073976.1"	""	""	""	"1"	"679"	"450"	"74079515"	"74078278"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{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"	"2024-11-23 09:38:12"
"00884"	"LDS"	"Loeys-Dietz syndrome (LDS)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05370"	"INFF"	"infertility, female (INFF)"	""	""	""	""	""	"00006"	"2017-12-29 16:08:25"	""	""
"07114"	"MLID"	"multilocus imprinting disturbances"	""	""	""	""	""	"00006"	"2024-11-11 09:01:04"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"OOEP"	"05370"


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00050621"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00398312"	""	""	""	"1"	""	"00006"	"{PMID:Regalado 2011:21778426}"	"4-generation family, 11 affected (6F, 5M)"	"F;M"	""	"United States"	""	"0"	""	""	""	"FamTAA549"
"00457426"	""	""	""	"2"	""	"00006"	"{PMID:Begemann 2018:29574422}"	"mother of affected child"	"F"	""	""	""	"0"	""	""	""	"Fam13"
"00457437"	""	""	"00457426"	"1"	""	"00006"	"{PMID:Begemann 2018:29574422}"	"son"	"M"	""	""	""	"0"	""	""	""	"Fam13Pat"
"00457447"	""	""	""	"1"	""	"00006"	"{PMID:Tong 2022:35946397}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"China"	""	"0"	""	""	""	"Fam1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00050621"	"00198"
"00398312"	"00884"
"00457426"	"07114"
"00457437"	"07114"
"00457447"	"05370"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00884, 05370, 07114
## Count = 5
"{{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}}"
"0000037233"	"00198"	"00050621"	"00006"	"Unknown"	""	"global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement"	""	""	""	""	""	""	""	""	""	""	""
"0000291436"	"00884"	"00398312"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"LDS3"	""	""
"0000345890"	"07114"	"00457426"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"healthy"	""
"0000345901"	"07114"	"00457437"	"00006"	"Unknown"	""	"see paper; ..., 40w-birth weight2100g (<0.4th centile0; 1-3.5m-hyperglycaemia, pelvic renal dilatation, developmental delay"	""	""	""	""	""	""	""	""	""	"transient neonatal diabetes mellitus (multilocus imprinting disturbances)"	""
"0000345911"	"05370"	"00457447"	"00006"	"Familial, autosomal recessive"	"25y"	"see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment"	""	""	""	""	""	""	""	""	""	"female infertility"	""


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050566"	"00050621"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000399557"	"00398312"	"1"	"00006"	"00006"	"2022-01-03 21:54:34"	""	""	"SEQ"	"DNA"	""	""
"0000459047"	"00457426"	"1"	"00006"	"00006"	"2024-11-11 15:11:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000459058"	"00457437"	"1"	"00006"	"00006"	"2024-11-11 15:36:28"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459068"	"00457447"	"1"	"00006"	"00006"	"2024-11-11 18:05:07"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000399557"	"SMAD3"


## 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 = 6
"{{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}}"
"0000079546"	"21"	"90"	"6"	"73709065"	"76815249"	"del"	"0"	"00006"	"KHDC3L_000005"	"g.73709065_76815249del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000832134"	"1"	"70"	"6"	"74079072"	"74079072"	"subst"	"0.00180223"	"00006"	"OOEP_000001"	"g.74079072G>A"	""	"{PMID:Regalado 2011:21778426}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0001016758"	"3"	"90"	"6"	"74079407"	"74079407"	"subst"	"8.12255E-6"	"00006"	"OOEP_000002"	"g.74079407G>A"	""	"{PMID:Begemann 2018:29574422}"	""	""	"variant affects embryonic imprinting"	"Germline/De novo (untested)"	""	"rs189355507"	"0"	"normal epigenotype"	""	"g.73369684G>A"	""	"pathogenic (!)"	""
"0001016769"	"21"	"90"	"6"	"74079407"	"74079407"	"subst"	"8.12255E-6"	"00006"	"OOEP_000002"	"g.74079407G>A"	""	"{PMID:Begemann 2018:29574422}"	""	""	"variant affects embryonic imprinting; variant also present in father"	"Germline"	""	"rs189355507"	"0"	""	""	"g.73369684G>A"	""	"pathogenic (!)"	""
"0001016790"	"11"	"90"	"6"	"74079407"	"74079407"	"subst"	"0"	"00006"	"OOEP_000003"	"g.74079407G>C"	""	"{PMID:Tong 2022:35946397}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.73369684G>C"	""	"pathogenic (recessive)"	""
"0001016791"	"21"	"90"	"6"	"74079406"	"74079406"	"subst"	"0"	"00006"	"OOEP_000004"	"g.74079406C>G"	""	"{PMID:Tong 2022:35946397}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.73369683C>G"	""	"pathogenic (recessive)"	""


## 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 OOEP
## Count = 6
"{{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}}"
"0000079546"	"00015047"	"00"	"-2735734"	"0"	"369892"	"0"	"c.-2735734_*369442del"	"r.0?"	"p.0?"	""
"0000832134"	"00015047"	"70"	"227"	"0"	"227"	"0"	"c.227C>T"	"r.(?)"	"p.(Thr76Met)"	""
"0001016758"	"00015047"	"90"	"109"	"0"	"109"	"0"	"c.109C>T"	"r.(?)"	"p.(Arg37Trp)"	""
"0001016769"	"00015047"	"90"	"109"	"0"	"109"	"0"	"c.109C>T"	"r.(?)"	"p.(Arg37Trp)"	""
"0001016790"	"00015047"	"90"	"109"	"0"	"109"	"0"	"c.109C>G"	"r.(?)"	"p.(Arg37Gly)"	""
"0001016791"	"00015047"	"90"	"110"	"0"	"110"	"0"	"c.110G>C"	"r.(?)"	"p.(Arg37Pro)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000050566"	"0000079546"
"0000399557"	"0000832134"
"0000459047"	"0001016758"
"0000459058"	"0001016769"
"0000459068"	"0001016790"
"0000459068"	"0001016791"