### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TDRD9)
# 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}}"
"TDRD9"	"tudor domain containing 9"	"14"	"q32.33"	"unknown"	"NC_000014.8"	"UD_136018087897"	""	"https://www.LOVD.nl/TDRD9"	""	"1"	"20122"	"122402"	"617963"	"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/TDRD9_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2022-02-16 22:21:04"	"00000"	"2024-08-28 13:16:32"


## 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}}"
"00020944"	"TDRD9"	"tudor domain containing 9"	"001"	"NM_153046.2"	""	"NP_694591.2"	""	""	""	"-30"	"4734"	"4149"	"104394817"	"104519004"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"00201"	"INFM"	"infertility, male (INFM)"	""	""	""	""	""	"00006"	"2013-09-14 21:03:39"	"00006"	"2015-12-07 07:11:25"
"05562"	"SPGF"	"spermatogenic failure (SPGF)"	""	""	""	""	""	"00006"	"2019-02-13 22:06:30"	""	""
"06245"	"SPGF30"	"?Spermatogenic failure 30"	"AR"	"618110"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"TDRD9"	"05562"
"TDRD9"	"06245"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00403091"	""	""	""	"1"	""	"00006"	"{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}"	"analysis 96 unrelated men"	"M"	""	"Algeria"	""	"0"	""	""	""	"P0080"
"00403092"	""	""	""	"1"	""	"00006"	"{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}"	"analysis 96 unrelated men"	"M"	""	"Tunisia"	""	"0"	""	""	""	"P0279"
"00403113"	""	""	""	"5"	""	"00006"	"{PMID:Arafat 2017:28536242}"	"5-generation family, 5 affected (5M), unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Israel"	""	"0"	""	""	"Bedouin"	"family"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00403091"	"00201"
"00403092"	"00201"
"00403113"	"05562"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00201, 05562, 06245
## Count = 3
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000295838"	"00201"	"00403091"	"00006"	"Familial, autosomal recessive"	""	"left/right testis volume <5/<5 mL; FSH 16 IU/L; testis hypospermatogenesis; sperm retrieval positive;  no anosmia, no disorder of sex development, no abnormal secondary sex characteristics"	""	""	""	""	""	""	""	""	"non-obstructive azoospermia"
"0000295839"	"00201"	"00403092"	"00006"	"Familial, autosomal recessive"	""	"left/right testis volume 10-15/10-15 mL; FSH 4.6 IU/L; testis meiotic spermatogenic arrest; sperm retrieval negative;  no anosmia, no disorder of sex development, no abnormal secondary sex characteristics"	""	""	""	""	""	""	""	""	"non-obstructive azoospermia"
"0000295860"	"05562"	"00403113"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	"SPGF30"	"azoospermia"


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000404332"	"00403091"	"1"	"00006"	"00006"	"2022-02-16 19:52:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000404333"	"00403092"	"1"	"00006"	"00006"	"2022-02-16 19:52:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000404354"	"00403113"	"1"	"00006"	"00006"	"2022-02-16 22:52:57"	"00006"	"2022-02-16 23:00:50"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000404332"	"TDRD9"
"0000404333"	"TDRD9"
"0000404354"	"TDRD9"


## 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}}"
"0000551301"	"0"	"50"	"14"	"104506550"	"104506550"	"subst"	"0"	"01943"	"RD3L_000001"	"g.104506550A>G"	""	""	""	"TDRD9(NM_153046.3):c.3734A>G (p.K1245R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.104040213A>G"	""	"VUS"	""
"0000840002"	"3"	"90"	"14"	"104498398"	"104498399"	"dup"	"0"	"00006"	"TDRD9_000002"	"g.104498398_104498399dup"	""	"{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}"	""	"NM_153046.3:c.3483_3484dup"	""	"Germline"	""	""	"0"	""	""	"g.104032061_104032062dup"	""	"pathogenic (recessive)"	""
"0000840003"	"3"	"90"	"14"	"104433123"	"104433126"	"del"	"0"	"00006"	"TDRD9_000001"	"g.104433123_104433126del"	""	"{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}"	""	"NM_153046.3:c.720_723del"	""	"Germline"	""	""	"0"	""	""	"g.103966786_103966789del"	""	"pathogenic (recessive)"	""
"0000840037"	"3"	"90"	"14"	"104433123"	"104433126"	"del"	"0"	"00006"	"TDRD9_000001"	"g.104433123_104433126del"	""	"{PMID:Arafat 2017:28536242}"	""	"720_723delTAGT"	""	"Germline"	"yes"	""	"0"	""	""	"g.103966786_103966789del"	""	"pathogenic (recessive)"	""
"0000950200"	"0"	"50"	"14"	"104501396"	"104501396"	"subst"	"0.000303811"	"02327"	"RD3L_000002"	"g.104501396A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000711"	"0"	"50"	"14"	"104464964"	"104464964"	"subst"	"2.04335E-5"	"02327"	"RD3L_000003"	"g.104464964T>C"	""	""	""	""	"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 TDRD9
## 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}}"
"0000551301"	"00020944"	"50"	"3734"	"0"	"3734"	"0"	"c.3734A>G"	"r.(?)"	"p.(Lys1245Arg)"	""
"0000840002"	"00020944"	"90"	"3483"	"0"	"3484"	"0"	"c.3483_3484dup"	"r.(?)"	"p.(Ser1162Ilefs*3)"	""
"0000840003"	"00020944"	"90"	"720"	"0"	"723"	"0"	"c.720_723del"	"r.(?)"	"p.(Ser241Profs*4)"	""
"0000840037"	"00020944"	"90"	"720"	"0"	"723"	"0"	"c.720_723del"	"r.[720_723del,720_723del;766_846del]"	"p.Ser241Profs*4"	"5"
"0000950200"	"00020944"	"50"	"3716"	"3"	"3716"	"3"	"c.3716+3A>G"	"r.spl?"	"p.?"	""
"0001000711"	"00020944"	"50"	"1382"	"0"	"1382"	"0"	"c.1382T>C"	"r.(?)"	"p.(Ile461Thr)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000404332"	"0000840002"
"0000404333"	"0000840003"
"0000404354"	"0000840037"