### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = POMP)
# 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}}"
"POMP"	"proteasome maturation protein"	"13"	"q12.13"	"unknown"	"NG_027550.1"	"UD_132119111280"	""	"http://www.LOVD.nl/POMP"	""	"1"	"20330"	"51371"	"613386"	"1"	"1"	"1"	"1"	"Eestablishment of this LSDB was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/POMP_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-09-06 21:47:53"	"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}}"
"00016538"	"POMP"	"proteasome maturation protein"	"001"	"NM_015932.5"	""	"NP_057016.1"	""	""	""	"-181"	"1281"	"426"	"29233141"	"29253094"	""	"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}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"02404"	"KLICK"	"keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK)"	"AR"	"601952"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"06220"	"PRAAS2"	"proteasome-associated autoinflammatory syndrome, type 2"	"AD"	"618048"	""	""	""	"00006"	"2021-12-10 23:20:41"	"00006"	"2024-05-02 18:33:29"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"POMP"	"02404"
"POMP"	"06220"


## Individuals ## Do not remove or alter this header ##
## Count = 23
"{{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}}"
"00222915"	""	""	""	"3"	""	"00000"	""	""	"?"	""	""	""	"0"	""	""	"Spanish"	""
"00222916"	""	""	""	"3"	""	"00000"	""	""	"?"	""	""	""	"0"	""	""	"Spanish"	""
"00222917"	""	""	""	"2"	""	"00000"	""	"Heterozygous Non affected SP1 family members"	"?"	""	""	""	"0"	""	""	"Spanish"	""
"00222918"	""	""	""	"1"	""	"00000"	""	""	"M"	""	""	""	"0"	""	""	"Spanish"	""
"00222919"	""	""	""	"1"	""	"00000"	""	""	"M"	""	""	""	"0"	""	""	"Spanish"	""
"00222920"	""	""	""	"3"	""	"00000"	""	"Heterozygous Non affected parents"	"?"	""	""	""	"0"	""	""	"Norwegian"	""
"00222921"	""	""	""	"3"	""	"00000"	""	"Heterozygous Non affected parents"	"?"	""	""	""	"0"	""	""	"Norwegian"	""
"00222922"	""	""	""	"1"	""	"00000"	""	"Heterozygous Non affected Father"	"M"	""	""	""	"0"	""	""	"Norwegian"	""
"00222923"	""	""	""	"1"	""	"00000"	""	"Heterozygous Non affected Mother"	"F"	""	""	""	"0"	""	""	"Norwegian"	""
"00222924"	""	""	""	"1"	""	"00000"	""	""	"M"	""	""	""	"0"	""	""	"Dutch"	""
"00222925"	""	""	""	"1"	""	"00000"	""	""	"M"	""	""	""	"0"	""	""	"Dutch"	""
"00222926"	""	""	""	"1"	""	"00000"	""	""	"M"	""	""	""	"0"	""	""	"Italian"	""
"00222927"	""	""	""	"1"	""	"00000"	""	""	"M"	""	""	""	"0"	""	""	"Italian"	""
"00222928"	""	""	""	"1"	""	"00000"	""	"Heterozygous Non affected Father"	"M"	""	""	""	"0"	""	""	"Italian"	""
"00222929"	""	""	""	"1"	""	"00000"	""	"Heterozygous Non affected Mother"	"F"	""	""	""	"0"	""	""	"Italian"	""
"00222930"	""	""	""	"1"	""	"00000"	""	""	"M"	""	""	""	"0"	""	""	"Swedish"	""
"00222931"	""	""	""	"1"	""	"00000"	""	""	"M"	""	""	""	"0"	""	""	"Swedish"	""
"00222932"	""	""	""	"1"	""	"00000"	""	"Heterozygous Non affected Mother"	"F"	""	""	""	"0"	""	""	"Swedish"	""
"00222933"	""	""	""	"1"	""	"00000"	""	""	"F"	""	""	""	"0"	""	""	"Swedish"	""
"00222934"	""	""	""	"1"	""	"00000"	""	""	"F"	""	""	""	"0"	""	""	"Swedish"	""
"00222935"	""	""	""	"3"	""	"00000"	""	"Heterozygous Non affected S2 family members"	"?"	""	""	""	"0"	""	""	"Swedish"	""
"00222936"	""	""	""	"1"	""	"00000"	""	""	"M"	""	""	""	"0"	""	""	"Swedish"	""
"00222937"	""	""	""	"1"	""	"00000"	""	""	"M"	""	""	""	"0"	""	""	"Swedish"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 23
"{{individualid}}"	"{{diseaseid}}"
"00222915"	"02404"
"00222916"	"02404"
"00222917"	"00000"
"00222918"	"02404"
"00222919"	"02404"
"00222920"	"02404"
"00222921"	"02404"
"00222922"	"00000"
"00222923"	"00000"
"00222924"	"02404"
"00222925"	"02404"
"00222926"	"02404"
"00222927"	"02404"
"00222928"	"00000"
"00222929"	"00000"
"00222930"	"02404"
"00222931"	"02404"
"00222932"	"00000"
"00222933"	"02404"
"00222934"	"02404"
"00222935"	"00000"
"00222936"	"02404"
"00222937"	"02404"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 02404, 06220
## Count = 23
"{{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}}"
"0000168038"	"02404"	"00222915"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000168039"	"02404"	"00222916"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000168040"	"00000"	"00222917"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168041"	"02404"	"00222918"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168042"	"02404"	"00222919"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168043"	"02404"	"00222920"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000168044"	"02404"	"00222921"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000168045"	"00000"	"00222922"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168046"	"00000"	"00222923"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168047"	"02404"	"00222924"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168048"	"02404"	"00222925"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168049"	"02404"	"00222926"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168050"	"02404"	"00222927"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168051"	"00000"	"00222928"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168052"	"00000"	"00222929"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168053"	"02404"	"00222930"	"00008"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""
"0000168054"	"02404"	"00222931"	"00008"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""
"0000168055"	"00000"	"00222932"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168056"	"02404"	"00222933"	"00008"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""
"0000168057"	"02404"	"00222934"	"00008"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""
"0000168058"	"00000"	"00222935"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000168059"	"02404"	"00222936"	"00008"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""
"0000168060"	"02404"	"00222937"	"00008"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 23
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000223990"	"00222915"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000223991"	"00222916"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000223992"	"00222917"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	""	""	"SEQ"	"DNA"	""	""
"0000223993"	"00222918"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000223994"	"00222919"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000223995"	"00222920"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000223996"	"00222921"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000223997"	"00222922"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	""	""	"SEQ"	"DNA"	""	""
"0000223998"	"00222923"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	""	""	"SEQ"	"DNA"	""	""
"0000223999"	"00222924"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000224000"	"00222925"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000224001"	"00222926"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000224002"	"00222927"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000224003"	"00222928"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	""	""	"SEQ"	"DNA"	""	""
"0000224004"	"00222929"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	""	""	"SEQ"	"DNA"	""	""
"0000224005"	"00222930"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000224006"	"00222931"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000224007"	"00222932"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	""	""	"SEQ"	"DNA"	""	""
"0000224008"	"00222933"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000224009"	"00222934"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000224010"	"00222935"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	""	""	"SEQ"	"DNA"	""	""
"0000224011"	"00222936"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""
"0000224012"	"00222937"	"1"	"00000"	"00115"	"2010-07-22 11:33:16"	"00115"	"2010-08-11 08:56:59"	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 23
"{{screeningid}}"	"{{geneid}}"
"0000223990"	"POMP"
"0000223991"	"POMP"
"0000223992"	"POMP"
"0000223993"	"POMP"
"0000223994"	"POMP"
"0000223995"	"POMP"
"0000223996"	"POMP"
"0000223997"	"POMP"
"0000223998"	"POMP"
"0000223999"	"POMP"
"0000224000"	"POMP"
"0000224001"	"POMP"
"0000224002"	"POMP"
"0000224003"	"POMP"
"0000224004"	"POMP"
"0000224005"	"POMP"
"0000224006"	"POMP"
"0000224007"	"POMP"
"0000224008"	"POMP"
"0000224009"	"POMP"
"0000224010"	"POMP"
"0000224011"	"POMP"
"0000224012"	"POMP"


## 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 = 30
"{{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}}"
"0000075724"	"0"	"57"	"13"	"29246545"	"29246546"	"del"	"0"	"01373"	"POMP_000002"	"g.29246545_29246546del"	""	""	""	"333_334delTA"	""	"De novo"	""	""	"0"	""	""	"g.28672408_28672409del"	""	"VUS"	""
"0000455763"	"10"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455764"	"20"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455765"	"1"	"35"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"likely benign"	""
"0000455766"	"10"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455767"	"20"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455768"	"11"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455769"	"21"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455770"	"1"	"35"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"likely benign"	""
"0000455771"	"1"	"35"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"likely benign"	""
"0000455772"	"10"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455773"	"20"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455774"	"11"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455775"	"21"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455776"	"1"	"35"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"likely benign"	""
"0000455777"	"1"	"35"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"likely benign"	""
"0000455778"	"10"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Variant recurrent rather than founder mutation. Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455779"	"21"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Variant recurrent rather than founder mutation. Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455780"	"1"	"35"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Variant recurrent rather than founder mutation. Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"likely benign"	""
"0000455781"	"10"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Variant recurrent rather than founder mutation. Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455782"	"21"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Variant recurrent rather than founder mutation. Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455783"	"1"	"35"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Variant recurrent rather than founder mutation. Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"likely benign"	""
"0000455784"	"10"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Variant recurrent rather than founder mutation. Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000455785"	"20"	"95"	"13"	"29233227"	"29233227"	"del"	"0"	"00000"	"POMP_000001"	"g.29233227del"	""	"{PMID: Dahlqvist 2010:20226437}"	""	""	"Variant recurrent rather than founder mutation. Non causative in heterozygous state"	"Unknown"	""	""	"0"	""	""	"g.28659090del"	""	"pathogenic"	""
"0000657270"	"0"	"30"	"13"	"29236653"	"29236653"	"subst"	"0.00244527"	"01943"	"POMP_000003"	"g.29236653G>A"	""	""	""	"POMP(NM_015932.5):c.101+9G>A, POMP(NM_015932.6):c.101+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28662516G>A"	""	"likely benign"	""
"0000806062"	"0"	"30"	"13"	"29236626"	"29236626"	"subst"	"0.000296473"	"01943"	"POMP_000004"	"g.29236626A>C"	""	""	""	"POMP(NM_015932.5):c.83A>C (p.H28P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890924"	"0"	"30"	"13"	"29236653"	"29236653"	"subst"	"0.00244527"	"02326"	"POMP_000003"	"g.29236653G>A"	""	""	""	"POMP(NM_015932.5):c.101+9G>A, POMP(NM_015932.6):c.101+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890925"	"0"	"30"	"13"	"29242718"	"29242718"	"subst"	"1.21975E-5"	"02326"	"POMP_000005"	"g.29242718T>C"	""	""	""	"POMP(NM_015932.6):c.264+7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925746"	"0"	"50"	"13"	"29236637"	"29236637"	"subst"	"8.12321E-6"	"02326"	"POMP_000006"	"g.29236637C>T"	""	""	""	"POMP(NM_015932.6):c.94C>T (p.R32W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000494"	"0"	"30"	"13"	"29233328"	"29233328"	"subst"	"0"	"01804"	"POMP_000007"	"g.29233328A>C"	""	""	""	"POMP(NM_015932.5):c.3+4A>C (p.?)"	"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 POMP
## Count = 30
"{{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}}"
"0000075724"	"00016538"	"57"	"334"	"0"	"335"	"0"	"c.334_335del"	"r.(?)"	"p.(Ile112Trpfs*3)"	"5"
"0000455763"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455764"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455765"	"00016538"	"35"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455766"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455767"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455768"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455769"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455770"	"00016538"	"35"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455771"	"00016538"	"35"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455772"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455773"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455774"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455775"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455776"	"00016538"	"35"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455777"	"00016538"	"35"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455778"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455779"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455780"	"00016538"	"35"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455781"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455782"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455783"	"00016538"	"35"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455784"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000455785"	"00016538"	"95"	"-95"	"0"	"-95"	"0"	"c.-95del"	"r.(?)"	"p.(=)"	"?"
"0000657270"	"00016538"	"30"	"101"	"9"	"101"	"9"	"c.101+9G>A"	"r.(=)"	"p.(=)"	""
"0000806062"	"00016538"	"30"	"83"	"0"	"83"	"0"	"c.83A>C"	"r.(?)"	"p.(His28Pro)"	""
"0000890924"	"00016538"	"30"	"101"	"9"	"101"	"9"	"c.101+9G>A"	"r.(=)"	"p.(=)"	""
"0000890925"	"00016538"	"30"	"264"	"7"	"264"	"7"	"c.264+7T>C"	"r.(=)"	"p.(=)"	""
"0000925746"	"00016538"	"50"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Arg32Trp)"	""
"0001000494"	"00016538"	"30"	"3"	"4"	"3"	"4"	"c.3+4A>C"	"r.spl?"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 23
"{{screeningid}}"	"{{variantid}}"
"0000223990"	"0000455763"
"0000223991"	"0000455764"
"0000223992"	"0000455765"
"0000223993"	"0000455766"
"0000223994"	"0000455767"
"0000223995"	"0000455768"
"0000223996"	"0000455769"
"0000223997"	"0000455770"
"0000223998"	"0000455771"
"0000223999"	"0000455772"
"0000224000"	"0000455773"
"0000224001"	"0000455774"
"0000224002"	"0000455775"
"0000224003"	"0000455776"
"0000224004"	"0000455777"
"0000224005"	"0000455778"
"0000224006"	"0000455779"
"0000224007"	"0000455780"
"0000224008"	"0000455781"
"0000224009"	"0000455782"
"0000224010"	"0000455783"
"0000224011"	"0000455784"
"0000224012"	"0000455785"