### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = POGZ)
# 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}}"
"POGZ"	"pogo transposable element with ZNF domain"	"1"	"q21.1"	"unknown"	"NC_000001.10"	"UD_132319164199"	""	"https://www.LOVD.nl/POGZ"	""	"1"	"18801"	"23126"	"614787"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/POGZ_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2012-09-13 00:00:00"	"00006"	"2021-03-18 09:29:32"	"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}}"
"00024179"	"POGZ"	"transcript variant 1"	"005"	"NM_015100.3"	""	"NP_055915.2"	""	""	""	"-315"	"6311"	"4233"	"151431941"	"151375200"	"00006"	"2016-10-11 22:11:35"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00138"	"autism"	"autism"	""	"209850"	""	""	""	"00084"	"2013-06-04 18:17:33"	"00006"	"2015-12-08 23:54:35"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04619"	"WHSUS;MRD37"	"White-Sutton syndrome (WHSUS, mental retardation, autosomal dominant, type 37 (MRD-37))"	"AD"	"616364"	""	""	""	"00000"	"2015-09-23 10:25:23"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"POGZ"	"04619"


## Individuals ## Do not remove or alter this header ##
## Count = 56
"{{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}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00019908"	""	""	""	"1"	""	"00705"	"{PMID:Gilissen 2014:24896178}, {PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	"?"	"Netherlands"	""	"0"	""	""	""	""
"00050556"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050697"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00065184"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"F"	""	"Netherlands"	">05y"	"0"	""	""	""	"26942287 UMCN1"
"00065187"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	"Netherlands"	">09y"	"0"	""	""	""	"26942287 UMCN3"
"00065191"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	"Netherlands"	">06y"	"0"	""	""	""	"26942287 UMCN4"
"00065194"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	"Netherlands"	">02y"	"0"	""	""	""	"26942287 UMCN5"
"00065195"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	"Netherlands"	">12y"	"0"	""	""	""	"26942287 UMCN6"
"00065196"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"F"	""	"Netherlands"	">05y"	"0"	""	""	""	"26942287 UMCN7"
"00065197"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	"Netherlands"	">26y"	"0"	""	""	""	"26942287 UMCN8"
"00065198"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	"Netherlands"	">08y"	"0"	""	""	""	"26942287 UMCN9"
"00065199"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"F"	""	"Netherlands"	">11y"	"0"	""	""	""	"26942287 UMCN10"
"00065200"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	""	">19y"	""	""	""	""	"26942287 EE3"
"00065201"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	""	">12y"	""	""	""	""	"26942287 EE4"
"00065202"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	""	">04y"	""	""	""	""	"26942287 FR1"
"00065203"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"F"	""	"France"	">11y"	"0"	""	""	""	"26942287 FR2"
"00065204"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"F"	""	"France"	">06y"	"0"	""	""	""	"26942287 FR3"
"00065205"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"F"	""	"France"	">06y"	"0"	""	""	""	"26942287 FR4"
"00065206"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	"France"	">24y"	"0"	""	""	""	"26942287 FR5"
"00065208"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	"France"	">17y"	"0"	""	""	""	"26942287 FR6"
"00065209"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	"parents not available"	"M"	""	""	">00y11m"	"0"	""	""	""	"26942287 EE9"
"00065210"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	""	">08y"	""	""	""	""	"26942287 EE1"
"00065211"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	""	">14y"	""	""	""	""	"26942287 EE2"
"00065212"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"F"	""	""	">21y"	""	""	""	""	"26942287 EE5"
"00065213"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"F"	""	""	">07y"	""	""	""	""	"26942287 EE6"
"00065214"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"M"	""	""	">07y"	""	""	""	""	"26942287 EE7"
"00065216"	""	""	""	"1"	""	"01606"	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"F"	""	""	">06y"	""	""	""	""	"26942287 EE8"
"00074613"	""	""	""	"1"	""	"01606"	"{PMID:White 2016:26739615}, {DOI:White 2016:10.1186/s13073-015-0253-0}"	""	"F"	""	"(United States)"	">00y31m"	"0"	""	""	""	"26739615 pt.2"
"00074614"	""	""	""	"1"	""	"01606"	"{PMID:White 2016:26739615}, {DOI:White 2016:10.1186/s13073-015-0253-0}"	""	"M"	""	"(United States)"	">03y10m"	"0"	""	""	""	"26739615 pt.3"
"00074615"	""	""	""	"1"	""	"01606"	"{PMID:White 2016:26739615}, {DOI:White 2016:10.1186/s13073-015-0253-0}"	""	"F"	""	"(United States)"	">05y"	"0"	""	""	""	"26739615 pt.4"
"00074616"	""	""	""	"1"	""	"01606"	"{PMID:White 2016:26739615}, {DOI:White 2016:10.1186/s13073-015-0253-0}"	""	"F"	""	"(United States)"	">04y07m"	"0"	""	""	""	"26739615 pt.5"
"00074621"	""	""	""	"1"	""	"01606"	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	"M"	""	""	">08y"	"0"	""	""	""	"27148570 pt.1"
"00074623"	""	""	""	"1"	""	"01606"	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	"F"	""	""	">10y"	"0"	""	""	""	"27148570 pt.2"
"00074624"	""	""	""	"1"	""	"01606"	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	"M"	""	""	">05y"	"0"	""	""	""	"27148570 pt.3"
"00074625"	""	""	""	"1"	""	"01606"	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	"M"	""	""	">16y"	"0"	""	""	""	"27148570 pt.4"
"00074628"	""	""	""	"1"	""	"01606"	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	"M"	""	""	">10y"	"0"	""	""	""	"27148570 pt.5"
"00081455"	""	""	""	"1"	""	"00006"	"{PMID:White 2016:26739615}, {DOI:White 2016:10.1186/s13073-015-0253-0}"	"father not available"	"F"	""	"(United States)"	""	"0"	""	""	""	""
"00081456"	""	""	""	"1"	""	"00006"	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00081457"	""	""	""	"1"	""	"00006"	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00168114"	""	""	""	"1"	""	"02537"	"{PMID:Du 2018:30555518}"	""	"M"	""	"China"	""	"0"	""	""	""	""
"00174400"	""	""	""	"1"	""	"01807"	""	""	"F"	""	"(Germany)"	""	"0"	""	""	""	""
"00276044"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00287094"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00287101"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00295923"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00409821"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"195198"
"00440388"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED2757.1"
"00440391"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED2847.1"
"00443837"	""	""	""	"1"	""	"00006"	"{PMID:Imafidon 2021:34136434}"	"prenatal indication abnormal ultrasound"	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat612"
"00448489"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"286202"
"00449747"	""	""	""	"1"	""	"03544"	""	""	"F"	""	"- (not applicable)"	""	""	""	""	"white"	""
"00457850"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00458062"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"311870"
"00458264"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 73
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00019908"	"00139"
"00050556"	"00198"
"00050697"	"00198"
"00065184"	"00139"
"00065187"	"00138"
"00065187"	"00139"
"00065191"	"00138"
"00065191"	"00139"
"00065194"	"00138"
"00065194"	"00139"
"00065195"	"00138"
"00065195"	"00139"
"00065196"	"00138"
"00065196"	"00139"
"00065197"	"00139"
"00065198"	"00139"
"00065199"	"00139"
"00065200"	"00139"
"00065201"	"00139"
"00065202"	"00138"
"00065202"	"00139"
"00065203"	"00139"
"00065204"	"00138"
"00065204"	"00139"
"00065205"	"00138"
"00065205"	"00139"
"00065206"	"00139"
"00065208"	"00138"
"00065208"	"00139"
"00065209"	"00139"
"00065210"	"00138"
"00065210"	"00139"
"00065211"	"00138"
"00065211"	"00139"
"00065212"	"00138"
"00065212"	"00139"
"00065213"	"00138"
"00065213"	"00139"
"00065214"	"00138"
"00065214"	"00139"
"00065216"	"00138"
"00065216"	"00139"
"00074613"	"00139"
"00074614"	"00138"
"00074614"	"00139"
"00074615"	"00139"
"00074616"	"00138"
"00074616"	"00139"
"00074621"	"00139"
"00074623"	"00139"
"00074624"	"00139"
"00074625"	"00139"
"00074628"	"00139"
"00081455"	"00139"
"00081456"	"00139"
"00081457"	"00139"
"00168114"	"00138"
"00174400"	"00198"
"00276044"	"00198"
"00287094"	"00198"
"00287101"	"00198"
"00295923"	"00198"
"00409821"	"04619"
"00440388"	"00198"
"00440391"	"00198"
"00443837"	"00198"
"00448489"	"04619"
"00449747"	"00139"
"00457850"	"00139"
"00458062"	"04619"
"00458264"	"00139"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 01157, 04619
## Count = 55
"{{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}}"
"0000017685"	"00139"	"00019908"	"00705"	"Isolated (sporadic)"	"13y"	"microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000037168"	"00198"	"00050556"	"00006"	"Isolated (sporadic)"	""	"iris coloboma, global developmental delay, behavioural/psychiatric abnormality, hypoglycemic seizures, abnormality of the outer ear"	""	""	""	""	""	""	""	""	""	""	""
"0000037309"	"00198"	"00050697"	"00006"	"Isolated (sporadic)"	""	"bilateral sensorineural hearing impairment, generalized neonatal hypotonia, generalized hypotonia, decreased electroretinogram (erg) amplitude, reduced amplitude of b-wave (erg), abnormality of vision evoked potentials, global developmental delay, cerebral atrophy, thin corpus callosum"	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	"3w"	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000051292"	"00139"	"00065184"	"01606"	"Isolated (sporadic)"	"05y"	"mild autism (HP:0000729), Microcephaly (HP:0000252), no abnormality of vision (-HP:0000252),; severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051296"	"00139"	"00065187"	"01606"	"Isolated (sporadic)"	"09y"	"mild autism (HP:0000729), Microcephaly (HP:0000252), Feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); mild intellectual disability (HP:0001256); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051299"	"00139"	"00065191"	"01606"	"Isolated (sporadic)"	"06y"	"mild autism (HP:0000729), no microcephaly (-HP:0000252), Feeding difficulties (HP:0011968), no abnormality of vision (-HP:0000252), no obesity (-HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); moderate speech delay (HP:0000750)"	""	"06y"	""	""	""	""	""	""	""	""	""
"0000051301"	"00139"	"00065194"	"01606"	"Isolated (sporadic)"	"02y"	"mild autism (HP:0000729), Microcephaly (HP:0000252), Feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); moderate speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051303"	"00139"	"00065195"	"01606"	"Isolated (sporadic)"	"12y"	"autism (HP:0000729),  no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051304"	"00139"	"00065196"	"01606"	"Isolated (sporadic)"	"05y"	"autism (HP:0000729), mild microcephaly (HP:0000252), no feeding difficulties (-HP:0011968), no abnormality of vision (-HP:0000252), no obesity (-HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); moderate speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051305"	"00139"	"00065197"	"01606"	"Isolated (sporadic)"	"26y"	"no autism (-HP:0000729), microcephaly (HP:0000252), feeding difficulties (HP:0011968), no abnormality of vision (-HP:0000252), obesity (HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051306"	"00139"	"00065198"	"01606"	"Isolated (sporadic)"	"08y"	"no autism (-HP:0000729), no microcephaly (-HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051307"	"00139"	"00065199"	"01606"	"Isolated (sporadic)"	"11y"	"no autism (-HP:0000729), no microcephaly (-HP:0000252), feeding difficulties (HP:0011968), no abnormality of vision (-HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051308"	"00139"	"00065200"	"01606"	"Isolated (sporadic)"	"19y"	"no autism (-HP:0000729), no microcephaly (-HP:0000252), abnormality of vision (HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051309"	"00139"	"00065201"	"01606"	"Isolated (sporadic)"	"12y"	"no autism (-HP:0000729), no microcephaly (-HP:0000252), no  feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); moderate speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051310"	"00139"	"00065202"	"01606"	"Isolated (sporadic)"	"04y"	"autism (HP:0000729), microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252),no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051311"	"00139"	"00065203"	"01606"	"Isolated (sporadic)"	"11y"	"no autism (-HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), no abnormality of vision (-HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); moderate speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051312"	"00139"	"00065204"	"01606"	"Isolated (sporadic)"	"06y"	"autism (HP:0000729), microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); moderate speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051313"	"00139"	"00065205"	"01606"	"Isolated (sporadic)"	"06y"	"autism (HP:0000729), microcephaly (HP:0000252),  abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051314"	"00139"	"00065206"	"01606"	"Isolated (sporadic)"	"24y"	"no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051315"	"00139"	"00065208"	"01606"	"Isolated (sporadic)"	"17y"	"autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); moderate speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051316"	"00139"	"00065209"	"01606"	"Unknown"	"00y11m"	"mild intellectual disability (HP:0001256)"	""	""	""	""	""	""	""	""	""	""	""
"0000051317"	"00139"	"00065210"	"01606"	"Isolated (sporadic)"	"08y"	"autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); mild intellectual disability (HP:0001256); motor delay (HP:0001270); moderate speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051318"	"00139"	"00065211"	"01606"	"Isolated (sporadic)"	"14y"	"autism (HP:0000729), mild microcephaly (HP:0000252), no feeding difficulties (-HP:0011968),  obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); mild speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051319"	"00139"	"00065212"	"01606"	"Isolated (sporadic)"	"21y"	"autism (HP:0000729), no microcephaly (-HP:0000252), mild obesity tendency (HP:0001513); moderate intellectual disability (HP:0002342); moderate speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051321"	"00139"	"00065213"	"01606"	"Isolated (sporadic)"	"07y"	"autism (HP:0000729), no microcephaly (-HP:0000252), no obesity (-HP:0001513); mild intellectual disability (HP:0001256); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051322"	"00139"	"00065214"	"01606"	"Isolated (sporadic)"	"07y"	"autism (HP:0000729), no microcephaly (-HP:0000252), no feeding difficulties (-HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000051323"	"00139"	"00065216"	"01606"	"Isolated (sporadic)"	"06y"	"autism (HP:0000729), no microcephaly (-HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), obesity (HP:0001513); mild intellectual disability (HP:0001256); motor delay (HP:0001270); moderate speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000054367"	"00139"	"00074613"	"01606"	"Isolated (sporadic)"	"00y31m"	"Sensorineural hearing impairment (HP:0000407), Cortical visual impairment (HP:0100704), no seizures (-HP:0001250), Short stature (HP:0004322), Microcephaly (HP:0000252), Brachycephaly (HP:0000248), Strabismus (HP:0000486), Abnormality of malar bones (HP:0012369), Depressed nasal bridge (HP:0005280), Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Thin vermilion border (HP:0000233), Downturned corners of mouth (HP:0002714), Pointed chin (HP:0000307), Low-set, posteriorly rotated ears (HP:0000368), Short neck (HP:0000470), Joint laxity (HP:0001388), Muscular hypotonia (HP:0001252), Delayed myelination (HP:0012448), Congenital diaphragmatic hernia (HP:0000776), Patent ductus arteriosus (HP:0001643), Patent foramen ovale (HP:0001655), Duplicated collecting system (HP:0000081); intellectual disability (HP:0001249); global developmental delay (HP:0001263)"	""	"00y19m"	""	""	""	""	""	""	""	""	""
"0000054368"	"00139"	"00074614"	"01606"	"Isolated (sporadic)"	"03y10m"	"Astigmatism (HP:0000483), Hypermetropia (HP:0000540), Focal seizures with impairment of consciousness or awareness (HP:0002384), Strabismus (HP:0000486), Abnormality of malar bones (HP:0012369), Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Thin vermilion border (HP:0000233), Downturned corners of mouth (HP:0002714), Bifid uvula (HP:0000193), Brachydactyly syndrome (HP:0001156), Muscular hypotonia (HP:0001252),; intellectual disability (HP:0001249); global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""
"0000054370"	"00139"	"00074615"	"01606"	"Isolated (sporadic)"	"05y"	"Sensorineural hearing impairment (HP:0000407), Rod-cone dystrophy (HP:0000510), no seizures (-HP:0001250), Short stature (HP:0004322), Microcephaly (HP:0000252), Brachycephaly (HP:0000248), Hypoplasia of midface (HP:0011800), Strabismus (HP:0000486), Optic nerve hypoplasia (HP:0000609), Abnormality of malar bones (HP:0012369),  Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Downturned corners of mouth (HP:0002714), High, narrow palate (HP:0002705), Pointed chin (HP:0000307), Posteriorly rotated ears (HP:0000358), Mandibular prognathia (HP:0000303), Sleep apnea (HP:0010535); intellectual disability (HP:0001249); global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""
"0000054371"	"00139"	"00074616"	"01606"	"Isolated (sporadic)"	"04y07m"	"Sensorineural hearing impairment (HP:0000407), Astigmatism (HP:0000483), no seizures (-HP:0001250), Short stature (HP:0004322), Microcephaly (HP:0000252), Brachycephaly (HP:0000248), Hypoplasia of midface (HP:0011800), Strabismus (HP:0000486), Optic nerve hypoplasia (HP:0000609), Depressed nasal bridge (HP:0005280), Broad nasal tip (HP:0000455), Short philtrum (HP:0000322), Thin vermilion border (HP:0000233), Downturned corners of mouth (HP:0002714), Cleft palate (HP:0000175), High, narrow palate (HP:0002705), Pointed chin (HP:0000307), Brachydactyly syndrome (HP:0001156), Muscular hypotonia (HP:0001252), Dandy-Walker malformation (HP:0001305), Patent foramen ovale (HP:0001655), Duplicated collecting system (HP:0000081), Global developmental delay (HP:0001263), Intellectual disability (HP:0001249); intellectual disability (HP:0001249); global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""
"0000054377"	"00139"	"00074621"	"01606"	"Isolated (sporadic)"	"08y"	"Muscular hypotonia (HP:0001252), no migraines (-HP:0002076), Polymicrogyria (HP:0002126), Abnormal facial shape (HP:0001999), Syndactyly (HP:0001159), Scoliosis (HP:0002650); intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); no speech (HP:0001344)"	""	""	""	""	""	""	""	""	""	""	""
"0000054379"	"00139"	"00074623"	"01606"	"Isolated (sporadic)"	"10y"	"Muscular hypotonia (HP:0001252), Migraine (HP:0002076), Episodic vomiting (HP:0002572), Abnormal facial shape (HP:0001999), Autism (HP:0000717), Anxiety (HP:0000739), Stereotypic behavior (HP:0000733); borderline intellectual disability (HP:0006889); global developmental delay (HP:0001263); motor delay (HP:0001270); speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000054380"	"00139"	"00074624"	"01606"	"Isolated (sporadic)"	"05y"	"Muscular hypotonia (HP:0001252), Cerebellar dysplasia (HP:0007033), Abnormality of the periventricular white matter (HP:0002518), Episodic vomiting (HP:0002572), Abnormal facial shape (HP:0001999), Failure to thrive (HP:0001508); intellectual disability (HP:0001249); global developmental delay (HP:0001263); motor delay (HP:0001270); speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000054382"	"00139"	"00074625"	"01606"	"Isolated (sporadic)"	"16y"	"no abnormality of brain morphology (-HP:0012443), Abnormal facial shape (HP:0001999), Obesity (HP:0001513), Mild finger syndactyly (HP:0006101); intellectual disability (HP:0001249); global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""
"0000054384"	"00139"	"00074628"	"01606"	"Unknown"	"10y"	"Abnormal facial shape (HP:0001999), Broad palm (HP:0001169), Broad thumb (HP:0011304); intellectual disability (HP:0001249); global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""
"0000061025"	"00139"	"00081455"	"00006"	"Isolated (sporadic)"	"15y"	"no sensorineural hearing impairment (-HP:0000407), mild myopia (HP:0000545), no seizures (-HP:0001250), Short stature (HP:0004322), no microcephaly (-HP:0000252), brachycephaly (HP:0000248), hypoplasia of midface (HP:0011800), no strabismus (-HP:0000486), no optic nerve hypoplasia (-HP:0000609), long and flat malar region (HP:0012369), depressed nasal bridge (HP:0005280), broad nasal tip (HP:0000455), short philtrum (HP:0000322), thin vermilion border (HP:0000233), downturned corners of mouth (HP:0002714), high arched palate (HP:0000218), pointed chin (HP:0000307), ears with over-folded superior helices, no micorgnathia, prognathism, short neck, no brachydactyly, joint laxity, hypotonia, normal brain MRI, sleep apnea, no congenital malformations; intellectual disability (HP:0001249); global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""
"0000061026"	"00139"	"00081456"	"00006"	"Isolated (sporadic)"	"09y"	"hypotonia, migraines, OFC (10-25th), no brain abnormality, walk 1y8m, talk 1y2m, cyclic vomitting, dysmorphic, broad toes, thumbs, spatulate fingers, ADHD; intellectual disability (HP:0001249); global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""
"0000061027"	"00139"	"00081457"	"00006"	"Isolated (sporadic)"	"01y"	"hypotonia, congenital OFC (<5th), cortical atrophy, atrophy corpus callosum, no walk 1y, no talk 1y, no cyclic vomitting, not dysmorphic, adducted thumbs, bilateral hearing loss; global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""
"0000139238"	"00198"	"00174400"	"01807"	"Unknown"	""	"HP:0001263 (Global developmental delay)"	""	""	""	""	""	""	""	""	""	""	""
"0000210600"	"00198"	"00276044"	"01807"	"Unknown"	""	"Intellectual disability (HP:0001249); Obesity (HP:0001513); Short stature (HP:0004322)"	""	""	""	""	""	""	""	""	""	""	""
"0000220830"	"00198"	"00287094"	"01807"	"Unknown"	""	"Intellectual disability (HP:0001249); Short attention span (HP:0000736); Behavioral abnormality (HP:0000708); Increased body weight (HP:0004324); Aggressive behavior (HP:0000718); Uterus didelphys (HP:0003762); Autism (HP:0000717)"	""	""	""	""	""	""	""	""	""	""	""
"0000220837"	"00198"	"00287101"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252)"	""	""	""	""	""	""	""	""	""	""	""
"0000223399"	"00198"	"00295923"	"01164"	"Unknown"	""	"Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Bilateral talipes equinovarus (HP:0001776); Eosinophilia (HP:0001880); Aganglionic megacolon (HP:0002251); Aplasia involving bones of the upper limbs (HP:0009823)"	""	""	""	""	""	""	""	""	""	""	""
"0000301936"	"04619"	"00409821"	"01164"	"Isolated (sporadic)"	"04y"	"Delayed speech and language development, Cryptorchidism, Mild microcephaly, Brachycephaly, Gait disturbance"	""	""	""	""	""	""	""	""	""	""	""
"0000330298"	"00198"	"00440388"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"White-Sutton syndrome (MIM #616364)"	""	""
"0000330301"	"00198"	"00440391"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"White-Sutton syndrome (MIM #616364)"	""	""
"0000333114"	"00198"	"00443837"	"00006"	"Isolated (sporadic)"	""	"pulmonary atresia, ventricular septal defect, overriding aorta, dysmaturity, glandular hypospadias, dysmorphic features"	""	""	""	""	""	""	""	""	""	""	""
"0000337677"	"04619"	"00448489"	"01164"	"Unknown"	"04y"	"Short stature, Neurodevelopmental delay, Impulsivity, Delayed speech and language development, Impaired social interactions, Enuresis, Self-injurious behavior, Aggressive behavior, Abnormal eating behavior, Smooth philtrum, Thin upper lip vermilion"	""	""	""	""	""	""	""	""	""	""	""
"0000338908"	"00139"	"00449747"	"03544"	"Isolated (sporadic)"	""	"HP:0001263, HP:0000252, HP:0000271, HP:0000286, HP:0000316, HP:0001999, HP:0000463, HP:0000431"	""	""	""	""	""	""	""	""	"WHSUS"	"intellectual disability"	""
"0000346298"	"00139"	"00457850"	"03544"	"Isolated (sporadic)"	""	"HP:0001249, HP:0000717"	""	""	""	""	""	""	""	""	"WHSUS"	"neurodevelopmental disorder"	""
"0000346510"	"04619"	"00458062"	"01164"	"Isolated (sporadic)"	"07y"	"Neurodevelopmental delay, Intellectual disability, Intellectual disability, mild, Atypical behavior, Obesity, Amblyopia, Polyphagia, Self-injurious behavior"	""	""	""	""	""	""	""	""	""	""	""
"0000346701"	"00139"	"00458264"	"03544"	"Isolated (sporadic)"	""	"HP:0002342, HP:0001513"	""	""	""	""	""	""	""	""	"WHSUS"	"intellectual disability"	""


## Screenings ## Do not remove or alter this header ##
## Count = 56
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000019900"	"00019908"	"1"	"00705"	"00705"	"2014-09-17 10:10:38"	"00006"	"2014-11-08 10:58:44"	"SEQ"	"DNA"	""	""
"0000050501"	"00050556"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050642"	"00050697"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000065337"	"00065184"	"1"	"01606"	"01606"	"2016-05-20 15:16:20"	""	""	"SEQ"	"DNA"	""	""
"0000065341"	"00065187"	"1"	"01606"	"01606"	"2016-05-20 15:36:24"	""	""	"SEQ"	"DNA"	""	""
"0000065344"	"00065191"	"1"	"01606"	"01606"	"2016-05-20 15:42:59"	""	""	"SEQ"	"DNA"	""	""
"0000065347"	"00065194"	"1"	"01606"	"01606"	"2016-05-20 15:49:32"	""	""	"SEQ"	"DNA"	""	""
"0000065348"	"00065195"	"1"	"01606"	"01606"	"2016-05-23 09:04:57"	""	""	"SEQ"	"DNA"	""	""
"0000065349"	"00065196"	"1"	"01606"	"01606"	"2016-05-23 09:34:51"	""	""	"SEQ"	"DNA"	""	""
"0000065350"	"00065197"	"1"	"01606"	"01606"	"2016-05-23 09:42:56"	""	""	"SEQ"	"DNA"	""	""
"0000065351"	"00065198"	"1"	"01606"	"01606"	"2016-05-23 09:50:28"	""	""	"SEQ"	"DNA"	""	""
"0000065352"	"00065199"	"1"	"01606"	"01606"	"2016-05-23 09:58:00"	""	""	"SEQ"	"DNA"	""	""
"0000065353"	"00065200"	"1"	"01606"	"01606"	"2016-05-23 10:05:26"	""	""	"SEQ"	"DNA"	""	""
"0000065354"	"00065201"	"1"	"01606"	"01606"	"2016-05-23 10:14:33"	""	""	"SEQ"	"DNA"	""	""
"0000065355"	"00065202"	"1"	"01606"	"01606"	"2016-05-23 10:20:02"	""	""	"SEQ"	"DNA"	""	""
"0000065356"	"00065203"	"1"	"01606"	"01606"	"2016-05-23 10:26:27"	""	""	"SEQ"	"DNA"	""	""
"0000065357"	"00065204"	"1"	"01606"	"01606"	"2016-05-23 10:31:52"	""	""	"SEQ"	"DNA"	""	""
"0000065358"	"00065205"	"1"	"01606"	"01606"	"2016-05-23 10:43:23"	""	""	"SEQ"	"DNA"	""	""
"0000065359"	"00065206"	"1"	"01606"	"01606"	"2016-05-23 10:49:36"	""	""	"SEQ"	"DNA"	""	""
"0000065360"	"00065208"	"1"	"01606"	"01606"	"2016-05-23 10:53:55"	""	""	"SEQ"	"DNA"	""	""
"0000065361"	"00065209"	"1"	"01606"	"01606"	"2016-05-23 10:56:46"	""	""	"SEQ"	"DNA"	""	""
"0000065362"	"00065210"	"1"	"01606"	"01606"	"2016-05-23 11:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000065363"	"00065211"	"1"	"01606"	"01606"	"2016-05-23 11:12:08"	""	""	"SEQ"	"DNA"	""	""
"0000065364"	"00065212"	"1"	"01606"	"01606"	"2016-05-23 11:17:15"	""	""	"SEQ"	"DNA"	""	""
"0000065365"	"00065213"	"1"	"01606"	"01606"	"2016-05-23 11:22:57"	""	""	"SEQ"	"DNA"	""	""
"0000065367"	"00065214"	"1"	"01606"	"01606"	"2016-05-23 11:27:24"	""	""	"SEQ"	"DNA"	""	""
"0000065368"	"00065216"	"1"	"01606"	"01606"	"2016-05-23 11:30:22"	""	""	"SEQ"	"DNA"	""	""
"0000074778"	"00074613"	"1"	"01606"	"01606"	"2016-07-11 11:02:50"	""	""	"SEQ"	"DNA"	""	""
"0000074779"	"00074614"	"1"	"01606"	"01606"	"2016-07-11 11:20:19"	""	""	"SEQ"	"DNA"	""	""
"0000074780"	"00074615"	"1"	"01606"	"01606"	"2016-07-11 11:37:05"	""	""	"SEQ"	"DNA"	""	""
"0000074781"	"00074616"	"1"	"01606"	"01606"	"2016-07-11 11:46:46"	""	""	"SEQ"	"DNA"	""	""
"0000074786"	"00074621"	"1"	"01606"	"01606"	"2016-07-11 12:59:14"	""	""	"SEQ"	"DNA"	""	""
"0000074788"	"00074623"	"1"	"01606"	"01606"	"2016-07-11 13:23:08"	""	""	"SEQ"	"DNA"	""	""
"0000074789"	"00074624"	"1"	"01606"	"01606"	"2016-07-11 13:42:10"	""	""	"SEQ"	"DNA"	""	""
"0000074790"	"00074625"	"1"	"01606"	"01606"	"2016-07-11 14:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000074793"	"00074628"	"1"	"01606"	"01606"	"2016-07-11 14:24:53"	""	""	"SEQ"	"DNA"	""	""
"0000081550"	"00081455"	"1"	"00006"	"00006"	"2016-10-12 00:01:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000081551"	"00081456"	"1"	"00006"	"00006"	"2016-10-12 08:38:50"	""	""	"SEQ"	"DNA"	""	""
"0000081552"	"00081457"	"1"	"00006"	"00006"	"2016-10-12 08:47:37"	""	""	"SEQ"	"DNA"	""	""
"0000168986"	"00168114"	"1"	"02537"	"02537"	"2018-07-20 09:15:20"	""	""	"SEQ-NG"	"DNA"	""	""
"0000175291"	"00174400"	"1"	"01807"	"01807"	"2018-08-08 12:41:39"	""	""	"SEQ"	"DNA"	""	""
"0000277191"	"00276044"	"1"	"01807"	"01807"	"2020-01-24 11:02:48"	""	""	"SEQ"	"DNA"	""	""
"0000288259"	"00287094"	"1"	"01807"	"01807"	"2020-02-12 11:23:44"	""	""	"SEQ"	"DNA"	""	""
"0000288266"	"00287101"	"1"	"01807"	"01807"	"2020-02-12 11:24:00"	""	""	"SEQ"	"DNA"	""	""
"0000297095"	"00295923"	"1"	"01164"	"01164"	"2020-03-30 10:44:13"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000411085"	"00409821"	"1"	"01164"	"01164"	"2022-05-11 12:12:51"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000441873"	"00440388"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000441876"	"00440391"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000445334"	"00443837"	"1"	"00006"	"00006"	"2023-12-03 11:44:16"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000450068"	"00448489"	"1"	"01164"	"01164"	"2024-03-14 13:18:58"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000451343"	"00449747"	"1"	"03544"	"03544"	"2024-05-10 10:08:13"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000459470"	"00457850"	"1"	"03544"	"03544"	"2024-11-20 13:29:47"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000459680"	"00458062"	"1"	"01164"	"01164"	"2024-11-27 12:59:48"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000459886"	"00458264"	"1"	"03544"	"03544"	"2024-12-12 07:59:02"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 36
"{{screeningid}}"	"{{geneid}}"
"0000019900"	"CFAP61"
"0000019900"	"EYA4"
"0000019900"	"POGZ"
"0000050501"	"POGZ"
"0000050642"	"POGZ"
"0000065337"	"POGZ"
"0000065341"	"POGZ"
"0000065344"	"POGZ"
"0000065347"	"POGZ"
"0000065348"	"POGZ"
"0000065349"	"POGZ"
"0000065350"	"POGZ"
"0000065351"	"POGZ"
"0000065352"	"POGZ"
"0000065353"	"POGZ"
"0000065354"	"POGZ"
"0000065355"	"POGZ"
"0000065356"	"POGZ"
"0000065357"	"POGZ"
"0000065358"	"POGZ"
"0000065359"	"POGZ"
"0000065360"	"POGZ"
"0000065361"	"POGZ"
"0000065362"	"POGZ"
"0000065363"	"POGZ"
"0000065364"	"POGZ"
"0000065365"	"POGZ"
"0000065367"	"POGZ"
"0000065368"	"POGZ"
"0000081550"	"POGZ"
"0000081551"	"POGZ"
"0000081552"	"POGZ"
"0000168986"	"POGZ"
"0000411085"	"POGZ"
"0000450068"	"POGZ"
"0000459680"	"POGZ"


## 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 = 152
"{{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}}"
"0000003504"	"0"	"30"	"1"	"151395782"	"151395782"	"subst"	"0"	"00037"	"POGZ_000001"	"g.151395782T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.151423306T>C"	""	"likely benign"	""
"0000003505"	"0"	"50"	"1"	"151396037"	"151396037"	"subst"	"0.674145"	"00037"	"POGZ_000003"	"g.151396037A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.151423561A>C"	""	"VUS"	""
"0000011474"	"0"	"30"	"1"	"151395782"	"151395782"	"subst"	"0"	"00037"	"POGZ_000001"	"g.151395782T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.151423306T>C"	""	"likely benign"	""
"0000011475"	"0"	"50"	"1"	"151396037"	"151396037"	"subst"	"0.674145"	"00037"	"POGZ_000003"	"g.151396037A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.151423561A>C"	""	"VUS"	""
"0000040387"	"0"	"90"	"1"	"151378510"	"151378510"	"subst"	"0"	"00705"	"POGZ_000004"	"g.151378510G>A"	""	"{PMID:Gilissen 2014:24896178}, {PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406034G>A"	""	"pathogenic"	""
"0000079481"	"0"	"90"	"1"	"151378156"	"151378160"	"delins"	"0"	"00006"	"POGZ_000005"	"g.151378156_151378160delAGGGinsAGG"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message."	"De novo"	""	""	"0"	""	""	"g.151405680_151405684delinsAGG"	""	"pathogenic"	""
"0000079622"	"0"	"90"	"1"	"151378800"	"151378800"	"subst"	"0"	"00006"	"POGZ_000002"	"g.151378800A>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406324A>T"	""	"pathogenic"	""
"0000097013"	"0"	"90"	"1"	"151378921"	"151378921"	"subst"	"0"	"01606"	"POGZ_000013"	"g.151378921G>A"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406445G>A"	""	"pathogenic"	""
"0000097017"	"0"	"90"	"1"	"151378054"	"151378055"	"del"	"0"	"01606"	"POGZ_000037"	"g.151378054_151378055del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151405578_151405579del"	""	"pathogenic"	""
"0000097020"	"0"	"90"	"1"	"151380689"	"151380689"	"del"	"0"	"01606"	"POGZ_000020"	"g.151380689del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151408213del"	""	"pathogenic"	""
"0000097023"	"0"	"90"	"1"	"151397466"	"151397466"	"dup"	"0"	"01606"	"POGZ_000025"	"g.151397466dup"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.151424990dup"	""	"pathogenic"	""
"0000097024"	"0"	"90"	"1"	"151379710"	"151379710"	"subst"	"0"	"01606"	"POGZ_000019"	"g.151379710C>T"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"NM_015100.3:c.2432+1G>A"	""	"De novo"	""	""	"0"	""	""	"g.151407234C>T"	""	"pathogenic"	""
"0000097025"	"0"	"90"	"1"	"151381212"	"151381212"	"del"	"0"	"01606"	"POGZ_000008"	"g.151381212del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151408736del"	""	"pathogenic"	""
"0000097026"	"0"	"90"	"1"	"151377664"	"151377664"	"subst"	"0"	"01606"	"POGZ_000027"	"g.151377664G>A"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151405188G>A"	""	"pathogenic"	""
"0000097027"	"0"	"90"	"1"	"151378054"	"151378055"	"del"	"0"	"01606"	"POGZ_000037"	"g.151378054_151378055del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151405578_151405579del"	""	"pathogenic"	""
"0000097028"	"0"	"90"	"1"	"151378471"	"151378471"	"subst"	"0"	"01606"	"POGZ_000010"	"g.151378471G>A"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151405995G>A"	""	"pathogenic"	""
"0000097029"	"0"	"70"	"1"	"151380921"	"151380923"	"del"	"0"	"01606"	"POGZ_000021"	"g.151380921_151380923del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"c.2196_2198delAG"	"variant description correct?"	"De novo"	""	""	"0"	""	""	"g.151408445_151408447del"	""	"likely pathogenic"	""
"0000097030"	"0"	"90"	"1"	"151381212"	"151381212"	"del"	"0"	"01606"	"POGZ_000008"	"g.151381212del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151408736del"	""	"pathogenic"	""
"0000097031"	"0"	"90"	"1"	"151379389"	"151379389"	"del"	"0"	"01606"	"POGZ_000017"	"g.151379389del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406913del"	""	"pathogenic"	""
"0000097032"	"0"	"90"	"1"	"151379746"	"151379746"	"dup"	"0"	"01606"	"POGZ_000016"	"g.151379746dup"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151407270dup"	""	"pathogenic"	""
"0000097033"	"0"	"90"	"1"	"151378676"	"151378676"	"del"	"0"	"01606"	"POGZ_000012"	"g.151378676del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406200del"	""	"pathogenic"	""
"0000097034"	"0"	"90"	"1"	"151378937"	"151378937"	"del"	"0"	"01606"	"POGZ_000014"	"g.151378937del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406461del"	""	"pathogenic"	""
"0000097035"	"0"	"90"	"1"	"151384217"	"151384217"	"subst"	"0"	"01606"	"POGZ_000023"	"g.151384217C>A"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151411741C>A"	""	"pathogenic"	""
"0000097036"	"0"	"90"	"1"	"151378510"	"151378510"	"subst"	"0"	"01606"	"POGZ_000004"	"g.151378510G>A"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406034G>A"	""	"pathogenic"	""
"0000097037"	"0"	"90"	"1"	"151379433"	"151379433"	"del"	"0"	"01606"	"POGZ_000015"	"g.151379433del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.151406957del"	""	"pathogenic"	""
"0000097038"	"0"	"90"	"1"	"151377905"	"151377912"	"dup"	"0"	"01606"	"POGZ_000007"	"g.151377905_151377912dup"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	"3600_3607dupTGATGACG"	""	"De novo"	""	""	"0"	""	""	"g.151405429_151405436dup"	""	"pathogenic"	""
"0000097039"	"0"	"90"	"1"	"151378489"	"151378489"	"subst"	"0"	"01606"	"POGZ_000011"	"g.151378489G>A"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406013G>A"	""	"pathogenic"	""
"0000097040"	"0"	"90"	"1"	"151396736"	"151396736"	"subst"	"0"	"01606"	"POGZ_000024"	"g.151396736G>T"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151424260G>T"	""	"pathogenic"	""
"0000097041"	"0"	"90"	"1"	"151402109"	"151402109"	"subst"	"0"	"01606"	"POGZ_000026"	"g.151402109G>A"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151429633G>A"	""	"pathogenic"	""
"0000097043"	"0"	"90"	"1"	"151378372"	"151378372"	"subst"	"0"	"01606"	"POGZ_000009"	"g.151378372C>A"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151405896C>A"	""	"pathogenic"	""
"0000097044"	"0"	"90"	"1"	"151380662"	"151380662"	"del"	"0"	"01606"	"POGZ_000018"	"g.151380662del"	""	"{PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151408186del"	""	"pathogenic"	""
"0000119850"	"0"	"90"	"1"	"151378752"	"151378752"	"dup"	"0"	"01606"	"POGZ_000029"	"g.151378752dup"	""	"{PMID:White 2016:26739615}, {DOI:White 2016:10.1186/s13073-015-0253-0}"	""	"2763dupC"	""	"De novo"	""	""	"0"	""	""	"g.151406276dup"	""	"pathogenic"	""
"0000119851"	"0"	"90"	"1"	"151400625"	"151400625"	"subst"	"0"	"01606"	"POGZ_000033"	"g.151400625G>C"	""	"{PMID:White 2016:26739615}, {DOI:White 2016:10.1186/s13073-015-0253-0}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151428149G>C"	""	"pathogenic"	""
"0000119852"	"0"	"90"	"1"	"151378576"	"151378576"	"subst"	"0"	"01606"	"POGZ_000034"	"g.151378576G>A"	""	"{PMID:White 2016:26739615}, {DOI:White 2016:10.1186/s13073-015-0253-0}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406100G>A"	""	"pathogenic"	""
"0000119853"	"0"	"90"	"1"	"151378733"	"151378733"	"dup"	"0"	"01606"	"POGZ_000028"	"g.151378733dup"	""	"{PMID:White 2016:26739615}, {DOI:White 2016:10.1186/s13073-015-0253-0}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406257dup"	""	"pathogenic"	""
"0000119859"	"0"	"90"	"1"	"151381022"	"151381025"	"dup"	"0"	"01606"	"POGZ_000032"	"g.151381022_151381025dup"	""	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	"2094_2097dupAACT"	""	"De novo"	""	""	"0"	""	""	"g.151408546_151408549dup"	""	"pathogenic"	""
"0000119861"	"0"	"90"	"1"	"151378480"	"151378480"	"subst"	"0"	"01606"	"POGZ_000035"	"g.151378480G>A"	""	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	"C3031T"	""	"De novo"	""	""	"0"	""	""	"g.151406004G>A"	""	"pathogenic"	""
"0000119862"	"0"	"90"	"1"	"151378764"	"151378764"	"dup"	"0"	"01606"	"POGZ_000030"	"g.151378764dup"	""	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151406288dup"	""	"pathogenic"	""
"0000119863"	"0"	"90"	"1"	"151378470"	"151378470"	"del"	"0"	"01606"	"POGZ_000006"	"g.151378470del"	""	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151405994del"	""	"pathogenic"	""
"0000119866"	"0"	"90"	"1"	"151380923"	"151380924"	"del"	"0"	"01606"	"POGZ_000031"	"g.151380923_151380924del"	""	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.151408447_151408448del"	""	"pathogenic"	""
"0000132206"	"0"	"90"	"1"	"151380629"	"151380632"	"del"	"0"	"00006"	"POGZ_000022"	"g.151380629_151380632del"	""	"{PMID:White 2016:26739615}, {DOI:White 2016:10.1186/s13073-015-0253-0}"	""	"2321_2324delCTCT"	"variant not maternal"	"Unknown"	""	""	"0"	""	""	"g.151408153_151408156del"	""	"pathogenic"	""
"0000132207"	"0"	"90"	"1"	"151374293"	"151403318"	""	"0"	"00006"	"POGZ_000038"	"g.(151372204_151374293)_(151403318_151413403)del"	""	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	""	"32 kb deletion exons 4–19 of POGZ and part of PSMB4"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000132208"	"0"	"90"	"1"	"151379421"	"151379421"	"dup"	"0"	"00006"	"POGZ_000039"	"g.151379421dup"	""	"{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}"	""	"2514dupC"	""	"De novo"	""	""	"0"	""	""	"g.151406945dup"	""	"pathogenic"	""
"0000301104"	"0"	"90"	"1"	"151378252"	"151378252"	"subst"	"0"	"02326"	"POGZ_000041"	"g.151378252G>A"	""	""	""	"POGZ(NM_015100.4):c.3259C>T (p.R1087*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151405776G>A"	""	"pathogenic"	""
"0000306056"	"0"	"90"	"1"	"151377799"	"151377799"	"subst"	"0"	"01943"	"POGZ_000040"	"g.151377799C>A"	""	""	""	"POGZ(NM_015100.3):c.3712G>T (p.E1238*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151405323C>A"	""	"pathogenic"	""
"0000320976"	"0"	"30"	"1"	"151373709"	"151373709"	"subst"	"8.53402E-5"	"01804"	"PSMB4_000001"	"g.151373709C>G"	""	""	""	"PSMB4(NM_002796.2):c.577-6C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151401233C>G"	""	"likely benign"	""
"0000320980"	"0"	"50"	"1"	"151384191"	"151384191"	"del"	"0"	"01804"	"POGZ_000044"	"g.151384191del"	""	""	""	"POGZ(NM_015100.3):c.1837del (p.(His613MetfsTer13))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151411715del"	""	"VUS"	""
"0000339007"	"0"	"70"	"1"	"151377403"	"151377403"	"subst"	"0"	"02327"	"POGZ_000047"	"g.151377403G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151404927G>A"	""	"likely pathogenic"	""
"0000343213"	"0"	"50"	"1"	"151381274"	"151381274"	"subst"	"0"	"02327"	"POGZ_000051"	"g.151381274G>A"	""	""	""	"POGZ(NM_015100.3):c.1957C>T (p.(Arg653Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151408798G>A"	""	"VUS"	""
"0000344483"	"0"	"70"	"1"	"151378471"	"151378471"	"subst"	"0"	"02327"	"POGZ_000010"	"g.151378471G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151405995G>A"	""	"likely pathogenic"	""
"0000344530"	"0"	"70"	"1"	"151377664"	"151377664"	"subst"	"0"	"02327"	"POGZ_000027"	"g.151377664G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151405188G>A"	""	"likely pathogenic"	""
"0000345070"	"0"	"90"	"1"	"151378054"	"151378055"	"del"	"0"	"02327"	"POGZ_000037"	"g.151378054_151378055del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151405578_151405579del"	""	"pathogenic"	""
"0000350208"	"0"	"90"	"1"	"151378889"	"151378889"	"subst"	"0"	"02327"	"POGZ_000049"	"g.151378889G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151406413G>C"	""	"pathogenic"	""
"0000350787"	"0"	"90"	"1"	"151384771"	"151384771"	"subst"	"0"	"02327"	"POGZ_000053"	"g.151384771C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151412295C>T"	""	"pathogenic"	""
"0000350934"	"0"	"70"	"1"	"151379710"	"151379710"	"subst"	"0"	"02327"	"POGZ_000019"	"g.151379710C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151407234C>T"	""	"likely pathogenic"	""
"0000350936"	"0"	"70"	"1"	"151384250"	"151384250"	"subst"	"0"	"02327"	"POGZ_000052"	"g.151384250G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.151411774G>C"	""	"likely pathogenic"	""
"0000379124"	"0"	"90"	"1"	"151397435"	"151397438"	"del"	"0"	"02537"	"POGZ_000056"	"g.151397435_151397438delinsGG"	""	"{PMID:Du 2018:30555518}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151424959_151424962delinsGG"	""	"pathogenic"	""
"0000395162"	"0"	"90"	"1"	"151381027"	"151381027"	"subst"	"0"	"01807"	"POGZ_000057"	"g.151381027G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.151408551G>A"	""	"pathogenic"	""
"0000503121"	"0"	"50"	"1"	"151377514"	"151377514"	"subst"	"4.46958E-5"	"02327"	"PSMB4_000002"	"g.151377514C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151405038C>T"	""	"VUS"	""
"0000503124"	"0"	"70"	"1"	"151377999"	"151377999"	"subst"	"0"	"02329"	"PSMB4_000005"	"g.151377999G>A"	""	""	""	"POGZ(NM_015100.4):c.3512C>T (p.P1171L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151405523G>A"	""	"likely pathogenic"	""
"0000503125"	"0"	"70"	"1"	"151378327"	"151378327"	"subst"	"0"	"02327"	"PSMB4_000006"	"g.151378327C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151405851C>T"	""	"likely pathogenic"	""
"0000503126"	"0"	"90"	"1"	"151378489"	"151378489"	"subst"	"0"	"01943"	"POGZ_000011"	"g.151378489G>A"	""	""	""	"POGZ(NM_015100.3):c.3022C>T (p.R1008*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151406013G>A"	""	"pathogenic"	""
"0000503127"	"0"	"30"	"1"	"151378722"	"151378722"	"subst"	"0.00139879"	"01943"	"PSMB4_000007"	"g.151378722G>C"	""	""	""	"POGZ(NM_015100.3):c.2789C>G (p.P930R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151406246G>C"	""	"likely benign"	""
"0000503128"	"0"	"90"	"1"	"151379757"	"151379757"	"del"	"0"	"02327"	"POGZ_000058"	"g.151379757del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151407281del"	""	"pathogenic"	""
"0000503129"	"0"	"50"	"1"	"151381274"	"151381274"	"subst"	"0"	"01804"	"POGZ_000051"	"g.151381274G>A"	""	""	""	"POGZ(NM_015100.3):c.1957C>T (p.(Arg653Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151408798G>A"	""	"VUS"	""
"0000503130"	"0"	"90"	"1"	"151384223"	"151384227"	"del"	"0"	"01943"	"POGZ_000059"	"g.151384223_151384227del"	""	""	""	"POGZ(NM_015100.3):c.1805_1809delACTCT (p.Y602*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151411747_151411751del"	""	"pathogenic"	""
"0000503131"	"0"	"70"	"1"	"151395927"	"151395927"	"del"	"0"	"01804"	"POGZ_000060"	"g.151395927del"	""	""	""	"POGZ(NM_015100.3):c.1626del (p.(Phe543SerfsTer37))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151423451del"	""	"likely pathogenic"	""
"0000503132"	"0"	"90"	"1"	"151396630"	"151396630"	"del"	"0"	"01943"	"POGZ_000061"	"g.151396630del"	""	""	""	"POGZ(NM_015100.3):c.1319delC (p.P440Lfs*30)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151424154del"	""	"pathogenic"	""
"0000503133"	"0"	"90"	"1"	"151397435"	"151397436"	"del"	"0"	"02325"	"POGZ_000054"	"g.151397435_151397436del"	""	""	""	"POGZ(NM_015100.4):c.1180_1181delAT (p.M394Vfs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151424959_151424960del"	""	"pathogenic"	""
"0000503135"	"0"	"30"	"1"	"151400506"	"151400506"	"subst"	"6.10153E-5"	"01804"	"POGZ_000063"	"g.151400506G>A"	""	""	""	"POGZ(NM_015100.4):c.871C>T (p.(Pro291Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151428030G>A"	""	"likely benign"	""
"0000503136"	"0"	"30"	"1"	"151400705"	"151400705"	"subst"	"0.000459096"	"01943"	"POGZ_000064"	"g.151400705G>A"	""	""	""	"POGZ(NM_015100.3):c.753C>T (p.S251=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151428229G>A"	""	"likely benign"	""
"0000604792"	"0"	"50"	"1"	"151377750"	"151377750"	"subst"	"0"	"02325"	"PSMB4_000008"	"g.151377750G>A"	""	""	""	"POGZ(NM_015100.4):c.3761C>T (p.P1254L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151405274G>A"	""	"VUS"	""
"0000604793"	"0"	"70"	"1"	"151377936"	"151377936"	"subst"	"0"	"02327"	"PSMB4_000009"	"g.151377936A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151405460A>G"	""	"likely pathogenic"	""
"0000604794"	"0"	"70"	"1"	"151378641"	"151378644"	"dup"	"0"	"02327"	"PSMB4_000010"	"g.151378641_151378644dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151406165_151406168dup"	""	"likely pathogenic"	""
"0000604795"	"0"	"90"	"1"	"151400752"	"151400752"	"dup"	"0"	"02327"	"POGZ_000068"	"g.151400752dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151428276dup"	""	"pathogenic"	""
"0000604796"	"0"	"70"	"1"	"151403297"	"151403297"	"subst"	"0"	"02327"	"POGZ_000069"	"g.151403297G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151430821G>A"	""	"likely pathogenic"	""
"0000620390"	"0"	"50"	"1"	"151384228"	"151384228"	"subst"	"0"	"01943"	"POGZ_000066"	"g.151384228G>A"	""	""	""	"POGZ(NM_015100.3):c.1799C>T (p.S600L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151411752G>A"	""	"VUS"	""
"0000620391"	"0"	"30"	"1"	"151397533"	"151397533"	"subst"	"0"	"01943"	"POGZ_000067"	"g.151397533G>A"	""	""	""	"POGZ(NM_015100.3):c.1083C>T (p.T361=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.151425057G>A"	""	"likely benign"	""
"0000631935"	"0"	"90"	"1"	"151400825"	"151400826"	"del"	"0"	"01807"	"POGZ_000070"	"g.151400825_151400826del"	""	""	""	"632_633delCT"	""	"Unknown"	""	""	"0"	""	""	"g.151428349_151428350del"	""	"pathogenic"	""
"0000644172"	"0"	"90"	"1"	"151377914"	"151377915"	"del"	"0"	"01807"	"POGZ_000071"	"g.151377914_151377915del"	""	""	""	"3597_3598delCA"	""	"Unknown"	""	""	"0"	""	""	"g.151405438_151405439del"	""	"pathogenic"	""
"0000644179"	"0"	"70"	"1"	"151400328"	"151400331"	"del"	"0"	"01807"	"POGZ_000072"	"g.151400328_151400331del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.151427852_151427855del"	""	"likely pathogenic"	""
"0000659709"	"0"	"50"	"1"	"151384198"	"151384198"	"subst"	"4.06382E-6"	"01164"	"POGZ_000073"	"g.151384198C>T"	""	""	""	""	"ACMG grading: PM2,PP3"	"Germline"	""	""	"0"	""	""	"g.151411722C>T"	""	"VUS"	"ACMG"
"0000675469"	"0"	"70"	"1"	"151372055"	"151372055"	"subst"	"0.000980949"	"02325"	"PSMB4_000011"	"g.151372055G>A"	""	""	""	"PSMB4(NM_002796.3):c.-9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000675470"	"0"	"50"	"1"	"151374091"	"151374091"	"subst"	"0"	"02325"	"PSMB4_000012"	"g.151374091T>C"	""	""	""	"PSMB4(NM_002796.3):c.767T>C (p.I256T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675471"	"0"	"70"	"1"	"151377742"	"151377742"	"subst"	"0"	"02327"	"PSMB4_000013"	"g.151377742A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000675473"	"0"	"90"	"1"	"151378921"	"151378921"	"subst"	"0"	"02327"	"POGZ_000013"	"g.151378921G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000675474"	"0"	"50"	"1"	"151400628"	"151400628"	"subst"	"6.099E-5"	"01943"	"POGZ_000074"	"g.151400628T>C"	""	""	""	"POGZ(NM_015100.3):c.830A>G (p.Q277R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000687866"	"0"	"30"	"1"	"151373726"	"151373726"	"subst"	"0"	"01943"	"PSMB4_000015"	"g.151373726A>G"	""	""	""	"PSMB4(NM_002796.3):c.588A>G (p.R196=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000703977"	"0"	"90"	"1"	"151400746"	"151400746"	"subst"	"0"	"03779"	"POGZ_000075"	"g.151400746G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1557910873"	"0"	""	""	""	""	"pathogenic"	""
"0000716802"	"0"	"70"	"1"	"151372547"	"151372547"	"del"	"0"	"02329"	"PSMB4_000016"	"g.151372547del"	""	""	""	"PSMB4(NM_002796.3):c.231delC (p.L78Wfs*31)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000716803"	"0"	"50"	"1"	"151373081"	"151373081"	"subst"	"4.06286E-5"	"02329"	"PSMB4_000017"	"g.151373081A>G"	""	""	""	"PSMB4(NM_002796.3):c.494+17A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716804"	"0"	"70"	"1"	"151377871"	"151377871"	"subst"	"0"	"01804"	"PSMB4_000018"	"g.151377871G>A"	""	""	""	"POGZ(NM_015100.3):c.3640C>T (p.(Gln1214*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000716805"	"0"	"70"	"1"	"151378493"	"151378493"	"subst"	"0"	"02327"	"PSMB4_000019"	"g.151378493C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000798770"	"0"	"30"	"1"	"151372610"	"151372610"	"subst"	"0"	"02325"	"PSMB4_000020"	"g.151372610C>T"	""	""	""	"PSMB4(NM_002796.3):c.294C>T (p.A98=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000798771"	"0"	"70"	"1"	"151377576"	"151377576"	"subst"	"0"	"02329"	"PSMB4_000021"	"g.151377576A>C"	""	""	""	"POGZ(NM_001194937.2):c.3908T>G (p.I1303S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000798772"	"0"	"30"	"1"	"151377580"	"151377580"	"subst"	"3.65453E-5"	"02325"	"PSMB4_000022"	"g.151377580C>T"	""	""	""	"POGZ(NM_015100.4):c.3931G>A (p.V1311I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000798773"	"0"	"30"	"1"	"151380968"	"151380968"	"subst"	"4.85986E-5"	"01943"	"POGZ_000076"	"g.151380968C>T"	""	""	""	"POGZ(NM_015100.3):c.2151G>A (p.P717=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000798774"	"0"	"70"	"1"	"151396425"	"151396425"	"subst"	"0"	"01804"	"POGZ_000077"	"g.151396425C>T"	""	""	""	"POGZ(NM_015100.3):c.1523G>A (p.(Arg508Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000798775"	"0"	"30"	"1"	"151403244"	"151403244"	"subst"	"0.00546035"	"01943"	"POGZ_000078"	"g.151403244T>C"	""	""	""	"POGZ(NM_015100.3):c.357A>G (p.T119=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848296"	"0"	"30"	"1"	"151374029"	"151374029"	"subst"	"0.000138062"	"02326"	"PSMB4_000024"	"g.151374029C>T"	""	""	""	"PSMB4(NM_002796.3):c.705C>T (p.A235=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848297"	"0"	"90"	"1"	"151378510"	"151378510"	"subst"	"0"	"02327"	"POGZ_000004"	"g.151378510G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000848298"	"0"	"50"	"1"	"151384247"	"151384247"	"subst"	"0"	"02325"	"POGZ_000080"	"g.151384247C>T"	""	""	""	"POGZ(NM_015100.4):c.1780G>A (p.V594M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856967"	"0"	"30"	"1"	"151372201"	"151372201"	"subst"	"2.84477E-5"	"01943"	"PSMB4_000023"	"g.151372201C>T"	""	""	""	"PSMB4(NM_002796.3):c.138C>T (p.T46=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856968"	"0"	"30"	"1"	"151374038"	"151374038"	"subst"	"4.06072E-6"	"01943"	"PSMB4_000025"	"g.151374038C>T"	""	""	""	"PSMB4(NM_002796.3):c.714C>T (p.T238=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856969"	"0"	"90"	"1"	"151378186"	"151378186"	"dup"	"0"	"01943"	"PSMB4_000026"	"g.151378186dup"	""	""	""	"POGZ(NM_015100.3):c.3325dupC (p.Q1109Pfs*18)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000868107"	"0"	"90"	"1"	"151378087"	"151378087"	"subst"	"0"	"01164"	"POGZ_000079"	"g.151378087G>A"	""	""	""	""	"ACMG PVS1, PS2_MOD, PM2_SUP; confirmed de novo in trio-exome"	"De novo"	"yes"	""	""	""	""	""	""	"pathogenic (dominant)"	"ACMG"
"0000882763"	"0"	"30"	"1"	"151374126"	"151374126"	"subst"	"0.000117781"	"02326"	"PSMB4_000027"	"g.151374126T>C"	""	""	""	"PSMB4(NM_002796.3):c.782+20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000882764"	"0"	"70"	"1"	"151378180"	"151378180"	"subst"	"0"	"02327"	"PSMB4_000028"	"g.151378180G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000882765"	"0"	"90"	"1"	"151380627"	"151380627"	"dup"	"0"	"02327"	"POGZ_000081"	"g.151380627dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000882766"	"0"	"90"	"1"	"151384775"	"151384775"	"del"	"0"	"02329"	"POGZ_000082"	"g.151384775del"	""	""	""	"POGZ(NM_015100.4):c.1777delC (p.Q593Rfs*13)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000882767"	"0"	"70"	"1"	"151397427"	"151397427"	"subst"	"0"	"02329"	"POGZ_000083"	"g.151397427T>C"	""	""	""	"POGZ(NM_001194937.2):c.1158+4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000918224"	"0"	"70"	"1"	"151395943"	"151395943"	"subst"	"0"	"03779"	"POGZ_000084"	"g.151395943G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000922945"	"0"	"30"	"1"	"151374276"	"151374277"	"del"	"0.0022875"	"02326"	"PSMB4_000029"	"g.151374276_151374277del"	""	""	""	"PSMB4(NM_002796.3):c.783-17_783-16delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000922946"	"0"	"70"	"1"	"151384112"	"151384112"	"subst"	"0"	"02327"	"POGZ_000085"	"g.151384112T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000928007"	"0"	"50"	"1"	"151373081"	"151373081"	"subst"	"4.06286E-5"	"02326"	"PSMB4_000017"	"g.151373081A>G"	""	""	""	"PSMB4(NM_002796.3):c.494+17A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928008"	"0"	"50"	"1"	"151400887"	"151400887"	"subst"	"0"	"02325"	"POGZ_000086"	"g.151400887G>T"	""	""	""	"POGZ(NM_015100.4):c.571C>A (p.P191T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000939815"	"0"	"70"	"1"	"151379389"	"151379389"	"del"	"0"	"00006"	"POGZ_000017"	"g.151379389del"	""	"{PMID:Nambot 2018:29095811}"	""	"NM_001194937.1:c.2518+1del"	""	"De novo"	""	""	"0"	""	""	"g.151406913del"	""	"likely pathogenic (dominant)"	""
"0000939818"	"0"	"70"	"1"	"151378676"	"151378676"	"del"	"0"	"00006"	"POGZ_000012"	"g.151378676del"	""	"{PMID:Nambot 2018:29095811}"	""	"NM_001194937.1:c.2809del"	""	"De novo"	""	""	"0"	""	""	"g.151406200del"	""	"likely pathogenic (dominant)"	""
"0000952248"	"0"	"70"	"1"	"151377750"	"151377750"	"subst"	"0"	"00006"	"PSMB4_000008"	"g.151377750G>A"	""	"{PMID:Imafidon 2021:34136434}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.151405274G>A"	""	"VUS"	""
"0000960492"	"0"	"50"	"1"	"151377740"	"151377740"	"subst"	"0"	"02329"	"PSMB4_000030"	"g.151377740A>C"	""	""	""	"POGZ(NM_015100.4):c.3771T>G (p.C1257W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000960493"	"0"	"50"	"1"	"151377769"	"151377769"	"subst"	"0"	"02329"	"PSMB4_000031"	"g.151377769T>G"	""	""	""	"POGZ(NM_015100.4):c.3742A>C (p.T1248P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000971996"	"0"	"50"	"1"	"151396636"	"151396636"	"subst"	"0"	"01164"	"POGZ_000087"	"g.151396636A>C"	""	""	""	""	"ACMG: PM2_SUP, PP2, BP4_MOD"	"Germline"	"?"	""	""	""	""	"g.151424160A>C"	""	"VUS"	"ACMG"
"0000973292"	"0"	"30"	"1"	"151377425"	"151377425"	"subst"	"5.2794E-5"	"01804"	"PSMB4_000032"	"g.151377425T>G"	""	""	""	"POGZ(NM_015100.4):c.4086A>C (p.(Glu1362Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973293"	"0"	"30"	"1"	"151378812"	"151378812"	"subst"	"0"	"01804"	"PSMB4_000033"	"g.151378812A>C"	""	""	""	"POGZ(NM_015100.4):c.2699T>G (p.(Leu900Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973294"	"0"	"90"	"1"	"151381212"	"151381212"	"del"	"0"	"01804"	"POGZ_000008"	"g.151381212del"	""	""	""	"POGZ(NM_015100.4):c.2020del (p.(Arg674ValfsTer9))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000973295"	"0"	"30"	"1"	"151407551"	"151407551"	"del"	"0"	"01804"	"POGZ_000088"	"g.151407551del"	""	""	""	"POGZ(NM_015100.4):c.284-4234del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973296"	"0"	"30"	"1"	"151433830"	"151433830"	"subst"	"0"	"01804"	"POGZ_000089"	"g.151433830C>T"	""	""	""	"POGZ(NM_015100.4):c.-2204G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000985197"	"0"	"90"	"1"	"151378510"	"151378510"	"subst"	"0"	"03544"	"POGZ_000004"	"g.151378510G>A"	""	""	""	""	"causative variation for the phenotype"	"De novo"	"-"	"rs869312833"	"0"	""	""	"g.151406034G>A"	"{CV:224724}"	"pathogenic"	"ACMG"
"0000990264"	"0"	"10"	"1"	"151372679"	"151372679"	"subst"	"0.00199324"	"02326"	"PSMB4_000034"	"g.151372679A>G"	""	""	""	"PSMB4(NM_002796.3):c.347+16A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000990265"	"0"	"50"	"1"	"151377505"	"151377505"	"subst"	"0"	"01804"	"PSMB4_000035"	"g.151377505T>G"	""	""	""	"POGZ(NM_001194937.1):c.3979A>C (p.(Ser1327Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990266"	"0"	"30"	"1"	"151378059"	"151378059"	"subst"	"0"	"01804"	"PSMB4_000036"	"g.151378059C>T"	""	""	""	"POGZ(NM_001194937.1):c.3425G>A (p.(Arg1142Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990267"	"0"	"50"	"1"	"151378291"	"151378291"	"subst"	"1.21882E-5"	"01804"	"PSMB4_000037"	"g.151378291G>A"	""	""	""	"POGZ(NM_015100.3):c.3220C>T (p.(Arg1074Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990268"	"0"	"30"	"1"	"151378819"	"151378819"	"subst"	"0"	"01804"	"PSMB4_000038"	"g.151378819C>T"	""	""	""	"POGZ(NM_015100.3):c.2692G>A (p.(Glu898Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990269"	"0"	"30"	"1"	"151400463"	"151400463"	"subst"	"0"	"01804"	"POGZ_000090"	"g.151400463T>C"	""	""	""	"POGZ(NM_015100.3):c.914A>G (p.(Lys305Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990270"	"0"	"50"	"1"	"151400664"	"151400664"	"subst"	"0"	"01804"	"POGZ_000091"	"g.151400664G>C"	""	""	""	"POGZ(NM_001194937.1):c.794C>G (p.(Thr265Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990271"	"0"	"50"	"1"	"151400694"	"151400694"	"subst"	"0"	"01804"	"POGZ_000092"	"g.151400694G>C"	""	""	""	"POGZ(NM_015100.3):c.764C>G (p.(Thr255Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990272"	"0"	"30"	"1"	"151400785"	"151400785"	"subst"	"0"	"01804"	"POGZ_000093"	"g.151400785T>C"	""	""	""	"POGZ(NM_001194937.1):c.673A>G (p.(Asn225Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990273"	"0"	"30"	"1"	"151413433"	"151413433"	"subst"	"0"	"01804"	"POGZ_000094"	"g.151413433G>A"	""	""	""	"POGZ(NM_001194937.1):c.254C>T (p.(Thr85Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001017496"	"0"	"70"	"1"	"151377710"	"151377710"	"subst"	"0"	"03544"	"POGZ_000095"	"g.151377710G>T"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.151405234G>T"	"{CV:3381759}"	"likely pathogenic (dominant)"	"ACMG"
"0001017774"	"0"	"70"	"1"	"151396454"	"151396454"	"dup"	"0"	"01164"	"POGZ_000096"	"g.151396454dup"	""	""	""	""	"ACMG: PVS1, PS2_SUP, PM2_SUP; confirmed de novo"	"De novo"	"-"	""	"0"	""	""	"g.151423978dup"	""	"pathogenic (dominant)"	"ACMG"
"0001018831"	"0"	"70"	"1"	"151377669"	"151377672"	"del"	"0"	"03544"	"POGZ_000097"	"g.151377669_151377672del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.151405193_151405196del"	"{CV:3387767}"	"likely pathogenic"	"ACMG"
"0001024026"	"0"	"70"	"1"	"151379769"	"151379769"	"subst"	"0"	"02329"	"POGZ_000098"	"g.151379769T>C"	""	""	""	"POGZ(NM_015100.4):c.2376-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001024027"	"0"	"70"	"1"	"151384242"	"151384242"	"subst"	"0"	"02329"	"POGZ_000099"	"g.151384242A>T"	""	""	""	"POGZ(NM_015100.4):c.1785T>A (p.C595*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001031248"	"0"	"30"	"1"	"151378257"	"151378257"	"subst"	"8.12645E-6"	"01804"	"PSMB4_000039"	"g.151378257G>A"	""	""	""	"POGZ(NM_015100.4):c.3254C>T (p.(Ala1085Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001031249"	"0"	"30"	"1"	"151378261"	"151378261"	"subst"	"0"	"01804"	"PSMB4_000040"	"g.151378261G>A"	""	""	""	"POGZ(NM_015100.4):c.3250C>T (p.(His1084Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001031250"	"0"	"30"	"1"	"151378915"	"151378915"	"subst"	"0"	"01804"	"PSMB4_000041"	"g.151378915G>A"	""	""	""	"POGZ(NM_015100.4):c.2596C>T (p.(His866Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001031251"	"0"	"50"	"1"	"151379405"	"151379405"	"subst"	"4.06151E-6"	"01804"	"PSMB4_000042"	"g.151379405T>C"	""	""	""	"POGZ(NM_015100.4):c.2527A>G (p.(Ser843Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031252"	"0"	"30"	"1"	"151380961"	"151380963"	"del"	"0"	"01804"	"POGZ_000100"	"g.151380961_151380963del"	""	""	""	"POGZ(NM_015100.4):c.2160_2162del (p.(Ser721del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001031253"	"0"	"90"	"1"	"151381027"	"151381027"	"subst"	"0"	"01804"	"POGZ_000057"	"g.151381027G>A"	""	""	""	"POGZ(NM_015100.4):c.2092C>T (p.(Arg698*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001031254"	"0"	"30"	"1"	"151396443"	"151396443"	"subst"	"0.000118172"	"01804"	"POGZ_000101"	"g.151396443C>T"	""	""	""	"POGZ(NM_015100.4):c.1505G>A (p.(Arg502Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001031255"	"0"	"30"	"1"	"151403194"	"151403194"	"subst"	"0.000140592"	"01804"	"POGZ_000102"	"g.151403194T>C"	""	""	""	"POGZ(NM_015100.4):c.407A>G (p.(Asn136Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001031256"	"0"	"30"	"1"	"151428470"	"151428470"	"subst"	"0"	"01804"	"POGZ_000103"	"g.151428470T>C"	""	""	""	"POGZ(NM_015100.4):c.-2+3158A>G"	"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 POGZ
## Count = 152
"{{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}}"
"0000003504"	"00024179"	"30"	"1678"	"91"	"1678"	"91"	"c.1678+91A>G"	"r.(?)"	"p.(=)"	"8i"
"0000003505"	"00024179"	"50"	"1524"	"-10"	"1524"	"-10"	"c.1524-10T>G"	"r.(?)"	"p.(=)"	"9i"
"0000011474"	"00024179"	"30"	"1678"	"91"	"1678"	"91"	"c.1678+91A>G"	"r.(?)"	"p.(=)"	"8i"
"0000011475"	"00024179"	"50"	"1524"	"-10"	"1524"	"-10"	"c.1524-10T>G"	"r.(?)"	"p.(=)"	"9i"
"0000040387"	"00024179"	"90"	"3001"	"0"	"3001"	"0"	"c.3001C>T"	"r.(?)"	"p.(Arg1001*)"	"19"
"0000079481"	"00024179"	"90"	"3351"	"0"	"3355"	"0"	"c.3351_3355delinsCCT"	"r.(?)"	"p.(Leu1117Phefs*9)"	"19"
"0000079622"	"00024179"	"90"	"2711"	"0"	"2711"	"0"	"c.2711T>A"	"r.(?)"	"p.(Leu904*)"	"19"
"0000097013"	"00024179"	"90"	"2590"	"0"	"2590"	"0"	"c.2590C>T"	"r.(?)"	"p.(Arg864*)"	"19"
"0000097017"	"00024179"	"90"	"3456"	"0"	"3457"	"0"	"c.3456_3457del"	"r.(?)"	"p.(Glu1154Thrfs*4)"	"19"
"0000097020"	"00024179"	"90"	"2263"	"0"	"2263"	"0"	"c.2263del"	"r.(?)"	"p.(Glu755Serfs*36)"	"15"
"0000097023"	"00024179"	"90"	"1152"	"0"	"1152"	"0"	"c.1152dup"	"r.(?)"	"p.(Arg385Serfs*4)"	"8"
"0000097024"	"00024179"	"90"	"2432"	"1"	"2432"	"1"	"c.2432+1G>A"	"r.spl"	"p.?"	"16i"
"0000097025"	"00024179"	"90"	"2020"	"0"	"2020"	"0"	"c.2020del"	"r.(?)"	"p.(Arg674Valfs*9)"	"13"
"0000097026"	"00024179"	"90"	"3847"	"0"	"3847"	"0"	"c.3847C>T"	"r.(?)"	"p.(Gln1283*)"	"19"
"0000097027"	"00024179"	"90"	"3456"	"0"	"3457"	"0"	"c.3456_3457del"	"r.(?)"	"p.(Glu1154Thrfs*4)"	"19"
"0000097028"	"00024179"	"90"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Gln1014*)"	"19"
"0000097029"	"00024179"	"70"	"2196"	"0"	"2198"	"0"	"c.2196_2198del"	"r.(?)"	"p.(Val733del)"	"14"
"0000097030"	"00024179"	"90"	"2020"	"0"	"2020"	"0"	"c.2020del"	"r.(?)"	"p.(Arg674Valfs*9)"	"13"
"0000097031"	"00024179"	"90"	"2545"	"1"	"2545"	"1"	"c.2545+1del"	"r.spl"	"p.?"	"17i"
"0000097032"	"00024179"	"90"	"2400"	"0"	"2400"	"0"	"c.2400dup"	"r.(?)"	"p.(Lys801Glnfs*7)"	"16"
"0000097033"	"00024179"	"90"	"2836"	"0"	"2836"	"0"	"c.2836del"	"r.(?)"	"p.(Asp946Metfs*12)"	"19"
"0000097034"	"00024179"	"90"	"2574"	"0"	"2574"	"0"	"c.2574del"	"r.(?)"	"p.(His858Glnfs*13)"	"19"
"0000097035"	"00024179"	"90"	"1810"	"0"	"1810"	"0"	"c.1810G>T"	"r.(?)"	"p.(Glu604*)"	"12"
"0000097036"	"00024179"	"90"	"3001"	"0"	"3001"	"0"	"c.3001C>T"	"r.(?)"	"p.(Arg1001*)"	"19"
"0000097037"	"00024179"	"90"	"2501"	"0"	"2501"	"0"	"c.2501del"	"r.(?)"	"p.(Leu834Trpfs*20)"	"17"
"0000097038"	"00024179"	"90"	"3600"	"0"	"3607"	"0"	"c.3600_3607dup"	"r.(?)"	"p.(Glu1203Valfs*28)"	"19"
"0000097039"	"00024179"	"90"	"3022"	"0"	"3022"	"0"	"c.3022C>T"	"r.(?)"	"p.(Arg1008*)"	"19"
"0000097040"	"00024179"	"90"	"1212"	"0"	"1212"	"0"	"c.1212C>A"	"r.(?)"	"p.(Tyr404*)"	"9"
"0000097041"	"00024179"	"90"	"538"	"0"	"538"	"0"	"c.538C>T"	"r.(?)"	"p.(Gln180*)"	"5"
"0000097043"	"00024179"	"90"	"3139"	"0"	"3139"	"0"	"c.3139G>T"	"r.(?)"	"p.(Glu1047*)"	"19"
"0000097044"	"00024179"	"90"	"2291"	"0"	"2291"	"0"	"c.2291del"	"r.(?)"	"p.(Pro764Leufs*27)"	"15"
"0000119850"	"00024179"	"90"	"2763"	"0"	"2763"	"0"	"c.2763dup"	"r.(?)"	"p.(Thr922Hisfs*22)"	"19"
"0000119851"	"00024179"	"90"	"833"	"0"	"833"	"0"	"c.833C>G"	"r.(?)"	"p.(Ser278*)"	"6"
"0000119852"	"00024179"	"90"	"2935"	"0"	"2935"	"0"	"c.2935C>T"	"r.(?)"	"p.(Arg979*)"	"19"
"0000119853"	"00024179"	"90"	"2780"	"0"	"2780"	"0"	"c.2780dup"	"r.(?)"	"p.(Leu927Phefs*17)"	"19"
"0000119859"	"00024179"	"90"	"2094"	"0"	"2097"	"0"	"c.2094_2097dup"	"r.(?)"	"p.(Val700Asnfs*7)"	"14"
"0000119861"	"00024179"	"90"	"3031"	"0"	"3031"	"0"	"c.3031C>T"	"r.(?)"	"p.(Gln1011*)"	"19"
"0000119862"	"00024179"	"90"	"2750"	"0"	"2750"	"0"	"c.2750dup"	"r.(?)"	"p.(Pro918Thrfs*26)"	"19"
"0000119863"	"00024179"	"90"	"3041"	"0"	"3041"	"0"	"c.3041del"	"r.(?)"	"p.(Gln1014Argfs*5)"	"19"
"0000119866"	"00024179"	"90"	"2195"	"0"	"2196"	"0"	"c.2195_2196del"	"r.(?)"	"p.(Pro732Argfs*11)"	"14"
"0000132206"	"00024179"	"90"	"2321"	"0"	"2324"	"0"	"c.2321_2324del"	"r.(?)"	"p.(Ser774Cysfs*16)"	"15"
"0000132207"	"00024179"	"90"	"284"	"-1"	"7218"	"0"	"c.(283+1_284-1)_(*2985_*5074)del"	"r.(del)"	"p.?"	"3i_19_"
"0000132208"	"00024179"	"90"	"2514"	"0"	"2514"	"0"	"c.2514dup"	"r.(?)"	"p.(Ser839Leufs*25)"	"17"
"0000301104"	"00024179"	"90"	"3259"	"0"	"3259"	"0"	"c.3259C>T"	"r.(?)"	"p.(Arg1087Ter)"	""
"0000306056"	"00024179"	"90"	"3712"	"0"	"3712"	"0"	"c.3712G>T"	"r.(?)"	"p.(Glu1238Ter)"	""
"0000320976"	"00024179"	"30"	"7802"	"0"	"7802"	"0"	"c.*3569G>C"	"r.(=)"	"p.(=)"	""
"0000320980"	"00024179"	"50"	"1837"	"0"	"1837"	"0"	"c.1837del"	"r.(?)"	"p.(His613MetfsTer13)"	""
"0000339007"	"00024179"	"70"	"4108"	"0"	"4108"	"0"	"c.4108C>T"	"r.(?)"	"p.(Arg1370Ter)"	""
"0000343213"	"00024179"	"50"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653Trp)"	""
"0000344483"	"00024179"	"70"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Gln1014Ter)"	""
"0000344530"	"00024179"	"70"	"3847"	"0"	"3847"	"0"	"c.3847C>T"	"r.(?)"	"p.(Gln1283Ter)"	""
"0000345070"	"00024179"	"90"	"3456"	"0"	"3457"	"0"	"c.3456_3457del"	"r.(?)"	"p.(Glu1154ThrfsTer4)"	""
"0000350208"	"00024179"	"90"	"2622"	"0"	"2622"	"0"	"c.2622C>G"	"r.(?)"	"p.(Tyr874Ter)"	""
"0000350787"	"00024179"	"90"	"1779"	"1"	"1779"	"1"	"c.1779+1G>A"	"r.spl?"	"p.?"	""
"0000350934"	"00024179"	"70"	"2432"	"1"	"2432"	"1"	"c.2432+1G>A"	"r.spl?"	"p.?"	""
"0000350936"	"00024179"	"70"	"1780"	"-3"	"1780"	"-3"	"c.1780-3C>G"	"r.spl?"	"p.?"	""
"0000379124"	"00024179"	"90"	"1178"	"0"	"1181"	"0"	"c.1178_1181delinsCC"	"r.(1178_1181delinscc)"	"p.(His393Profs*10)"	""
"0000395162"	"00024179"	"90"	"2092"	"0"	"2092"	"0"	"c.2092C>T"	"r.(?)"	"p.(Arg698*)"	""
"0000503121"	"00024179"	"50"	"3997"	"0"	"3997"	"0"	"c.3997G>A"	"r.(?)"	"p.(Asp1333Asn)"	""
"0000503124"	"00024179"	"70"	"3512"	"0"	"3512"	"0"	"c.3512C>T"	"r.(?)"	"p.(Pro1171Leu)"	""
"0000503125"	"00024179"	"70"	"3184"	"0"	"3184"	"0"	"c.3184G>A"	"r.(?)"	"p.(Glu1062Lys)"	""
"0000503126"	"00024179"	"90"	"3022"	"0"	"3022"	"0"	"c.3022C>T"	"r.(?)"	"p.(Arg1008Ter)"	""
"0000503127"	"00024179"	"30"	"2789"	"0"	"2789"	"0"	"c.2789C>G"	"r.(?)"	"p.(Pro930Arg)"	""
"0000503128"	"00024179"	"90"	"2387"	"0"	"2387"	"0"	"c.2387del"	"r.(?)"	"p.(Pro796HisfsTer15)"	""
"0000503129"	"00024179"	"50"	"1957"	"0"	"1957"	"0"	"c.1957C>T"	"r.(?)"	"p.(Arg653Trp)"	""
"0000503130"	"00024179"	"90"	"1805"	"0"	"1809"	"0"	"c.1805_1809del"	"r.(?)"	"p.(Tyr602Ter)"	""
"0000503131"	"00024179"	"70"	"1626"	"0"	"1626"	"0"	"c.1626del"	"r.(?)"	"p.(Phe543SerfsTer37)"	""
"0000503132"	"00024179"	"90"	"1319"	"0"	"1319"	"0"	"c.1319del"	"r.(?)"	"p.(Pro440LeufsTer30)"	""
"0000503133"	"00024179"	"90"	"1180"	"0"	"1181"	"0"	"c.1180_1181del"	"r.(?)"	"p.(Met394ValfsTer9)"	""
"0000503135"	"00024179"	"30"	"871"	"0"	"871"	"0"	"c.871C>T"	"r.(?)"	"p.(Pro291Ser)"	""
"0000503136"	"00024179"	"30"	"753"	"0"	"753"	"0"	"c.753C>T"	"r.(?)"	"p.(Ser251=)"	""
"0000604792"	"00024179"	"50"	"3761"	"0"	"3761"	"0"	"c.3761C>T"	"r.(?)"	"p.(Pro1254Leu)"	""
"0000604793"	"00024179"	"70"	"3575"	"0"	"3575"	"0"	"c.3575T>C"	"r.(?)"	"p.(Leu1192Pro)"	""
"0000604794"	"00024179"	"70"	"2870"	"0"	"2873"	"0"	"c.2870_2873dup"	"r.(?)"	"p.(Gly960IlefsTer6)"	""
"0000604795"	"00024179"	"90"	"706"	"0"	"706"	"0"	"c.706dup"	"r.(?)"	"p.(Thr236AsnfsTer79)"	""
"0000604796"	"00024179"	"70"	"304"	"0"	"304"	"0"	"c.304C>T"	"r.(?)"	"p.(Gln102Ter)"	""
"0000620390"	"00024179"	"50"	"1799"	"0"	"1799"	"0"	"c.1799C>T"	"r.(?)"	"p.(Ser600Leu)"	""
"0000620391"	"00024179"	"30"	"1083"	"0"	"1083"	"0"	"c.1083C>T"	"r.(?)"	"p.(Thr361=)"	""
"0000631935"	"00024179"	"90"	"632"	"0"	"633"	"0"	"c.632_633del"	"r.(?)"	"p.(Pro211Argfs*103)"	""
"0000644172"	"00024179"	"90"	"3597"	"0"	"3598"	"0"	"c.3597_3598del"	"r.(?)"	"p.(Tyr1199*)"	""
"0000644179"	"00024179"	"70"	"1048"	"0"	"1051"	"0"	"c.1048_1051del"	"r.(?)"	"p.(Arg350Profs*8)"	""
"0000659709"	"00024179"	"50"	"1829"	"0"	"1829"	"0"	"c.1829G>A"	"r.(?)"	"p.(Arg610Gln)"	""
"0000675469"	"00024179"	"70"	"9456"	"0"	"9456"	"0"	"c.*5223C>T"	"r.(=)"	"p.(=)"	""
"0000675470"	"00024179"	"50"	"7420"	"0"	"7420"	"0"	"c.*3187A>G"	"r.(=)"	"p.(=)"	""
"0000675471"	"00024179"	"70"	"3769"	"0"	"3769"	"0"	"c.3769T>C"	"r.(?)"	"p.(Cys1257Arg)"	""
"0000675473"	"00024179"	"90"	"2590"	"0"	"2590"	"0"	"c.2590C>T"	"r.(?)"	"p.(Arg864Ter)"	""
"0000675474"	"00024179"	"50"	"830"	"0"	"830"	"0"	"c.830A>G"	"r.(?)"	"p.(Gln277Arg)"	""
"0000687866"	"00024179"	"30"	"7785"	"0"	"7785"	"0"	"c.*3552T>C"	"r.(=)"	"p.(=)"	""
"0000703977"	"00024179"	"90"	"712"	"0"	"712"	"0"	"c.712C>T"	"r.(?)"	"p.(Arg238Ter)"	""
"0000716802"	"00024179"	"70"	"8965"	"0"	"8965"	"0"	"c.*4732del"	"r.(?)"	"p.(=)"	""
"0000716803"	"00024179"	"50"	"8430"	"0"	"8430"	"0"	"c.*4197T>C"	"r.(=)"	"p.(=)"	""
"0000716804"	"00024179"	"70"	"3640"	"0"	"3640"	"0"	"c.3640C>T"	"r.(?)"	"p.(Gln1214*)"	""
"0000716805"	"00024179"	"70"	"3018"	"0"	"3018"	"0"	"c.3018G>A"	"r.(?)"	"p.(Trp1006*)"	""
"0000798770"	"00024179"	"30"	"8901"	"0"	"8901"	"0"	"c.*4668G>A"	"r.(=)"	"p.(=)"	""
"0000798771"	"00024179"	"70"	"3935"	"0"	"3935"	"0"	"c.3935T>G"	"r.(?)"	"p.(Ile1312Ser)"	""
"0000798772"	"00024179"	"30"	"3931"	"0"	"3931"	"0"	"c.3931G>A"	"r.(?)"	"p.(Val1311Ile)"	""
"0000798773"	"00024179"	"30"	"2151"	"0"	"2151"	"0"	"c.2151G>A"	"r.(?)"	"p.(Pro717=)"	""
"0000798774"	"00024179"	"70"	"1523"	"0"	"1523"	"0"	"c.1523G>A"	"r.(?)"	"p.(Arg508Gln)"	""
"0000798775"	"00024179"	"30"	"357"	"0"	"357"	"0"	"c.357A>G"	"r.(?)"	"p.(Thr119=)"	""
"0000848296"	"00024179"	"30"	"7482"	"0"	"7482"	"0"	"c.*3249G>A"	"r.(=)"	"p.(=)"	""
"0000848297"	"00024179"	"90"	"3001"	"0"	"3001"	"0"	"c.3001C>T"	"r.(?)"	"p.(Arg1001*)"	""
"0000848298"	"00024179"	"50"	"1780"	"0"	"1780"	"0"	"c.1780G>A"	"r.(?)"	"p.(Val594Met)"	""
"0000856967"	"00024179"	"30"	"9310"	"0"	"9310"	"0"	"c.*5077G>A"	"r.(=)"	"p.(=)"	""
"0000856968"	"00024179"	"30"	"7473"	"0"	"7473"	"0"	"c.*3240G>A"	"r.(=)"	"p.(=)"	""
"0000856969"	"00024179"	"90"	"3325"	"0"	"3325"	"0"	"c.3325dup"	"r.(?)"	"p.(Gln1109Profs*18)"	""
"0000868107"	"00024179"	"90"	"3424"	"0"	"3424"	"0"	"c.3424C>T"	"r.(?)"	"p.(Arg1142*)"	""
"0000882763"	"00024179"	"30"	"7385"	"0"	"7385"	"0"	"c.*3152A>G"	"r.(=)"	"p.(=)"	""
"0000882764"	"00024179"	"70"	"3331"	"0"	"3331"	"0"	"c.3331C>T"	"r.(?)"	"p.(Gln1111*)"	""
"0000882765"	"00024179"	"90"	"2324"	"0"	"2324"	"0"	"c.2324dup"	"r.(?)"	"p.(Cys776Valfs*4)"	""
"0000882766"	"00024179"	"90"	"1777"	"0"	"1777"	"0"	"c.1777del"	"r.(?)"	"p.(Gln593Argfs*13)"	""
"0000882767"	"00024179"	"70"	"1185"	"4"	"1185"	"4"	"c.1185+4A>G"	"r.spl?"	"p.?"	""
"0000918224"	"00024179"	"70"	"1608"	"0"	"1608"	"0"	"c.1608C>G"	"r.(?)"	"p.(Tyr536Ter)"	""
"0000922945"	"00024179"	"30"	"7235"	"0"	"7236"	"0"	"c.*3002_*3003del"	"r.(=)"	"p.(=)"	""
"0000922946"	"00024179"	"70"	"1915"	"0"	"1915"	"0"	"c.1915A>C"	"r.(?)"	"p.(Met639Leu)"	""
"0000928007"	"00024179"	"50"	"8430"	"0"	"8430"	"0"	"c.*4197T>C"	"r.(=)"	"p.(=)"	""
"0000928008"	"00024179"	"50"	"571"	"0"	"571"	"0"	"c.571C>A"	"r.(?)"	"p.(Pro191Thr)"	""
"0000939815"	"00024179"	"70"	"2543"	"0"	"2543"	"0"	"c.2543del"	"r.spl?"	"p.?"	""
"0000939818"	"00024179"	"70"	"2835"	"0"	"2835"	"0"	"c.2835del"	"r.(?)"	"p.(Asp946Metfs*12)"	""
"0000952248"	"00024179"	"70"	"3761"	"0"	"3761"	"0"	"c.3761C>T"	"r.(?)"	"p.(Pro1254Leu)"	""
"0000960492"	"00024179"	"50"	"3771"	"0"	"3771"	"0"	"c.3771T>G"	"r.(?)"	"p.(Cys1257Trp)"	""
"0000960493"	"00024179"	"50"	"3742"	"0"	"3742"	"0"	"c.3742A>C"	"r.(?)"	"p.(Thr1248Pro)"	""
"0000971996"	"00024179"	"50"	"1312"	"0"	"1312"	"0"	"c.1312T>G"	"r.(?)"	"p.(Ser438Ala)"	""
"0000973292"	"00024179"	"30"	"4086"	"0"	"4086"	"0"	"c.4086A>C"	"r.(?)"	"p.(Glu1362Asp)"	""
"0000973293"	"00024179"	"30"	"2699"	"0"	"2699"	"0"	"c.2699T>G"	"r.(?)"	"p.(Leu900Arg)"	""
"0000973294"	"00024179"	"90"	"2020"	"0"	"2020"	"0"	"c.2020del"	"r.(?)"	"p.(Arg674ValfsTer9)"	""
"0000973295"	"00024179"	"30"	"284"	"-4234"	"284"	"-4234"	"c.284-4234del"	"r.(=)"	"p.(=)"	""
"0000973296"	"00024179"	"30"	"-2204"	"0"	"-2204"	"0"	"c.-2204G>A"	"r.(?)"	"p.(=)"	""
"0000985197"	"00024179"	"90"	"3001"	"0"	"3001"	"0"	"c.3001C>T"	"r.(?)"	"p.(Arg1001*)"	"19"
"0000990264"	"00024179"	"10"	"8832"	"0"	"8832"	"0"	"c.*4599T>C"	"r.(=)"	"p.(=)"	""
"0000990265"	"00024179"	"50"	"4006"	"0"	"4006"	"0"	"c.4006A>C"	"r.(?)"	"p.(Ile1336Leu)"	""
"0000990266"	"00024179"	"30"	"3452"	"0"	"3452"	"0"	"c.3452G>A"	"r.(?)"	"p.(Gly1151Asp)"	""
"0000990267"	"00024179"	"50"	"3220"	"0"	"3220"	"0"	"c.3220C>T"	"r.(?)"	"p.(Arg1074Cys)"	""
"0000990268"	"00024179"	"30"	"2692"	"0"	"2692"	"0"	"c.2692G>A"	"r.(?)"	"p.(Glu898Lys)"	""
"0000990269"	"00024179"	"30"	"914"	"0"	"914"	"0"	"c.914A>G"	"r.(?)"	"p.(Lys305Arg)"	""
"0000990270"	"00024179"	"50"	"794"	"0"	"794"	"0"	"c.794C>G"	"r.(?)"	"p.(Thr265Ser)"	""
"0000990271"	"00024179"	"50"	"764"	"0"	"764"	"0"	"c.764C>G"	"r.(?)"	"p.(Thr255Ser)"	""
"0000990272"	"00024179"	"30"	"673"	"0"	"673"	"0"	"c.673A>G"	"r.(?)"	"p.(Asn225Asp)"	""
"0000990273"	"00024179"	"30"	"254"	"0"	"254"	"0"	"c.254C>T"	"r.(?)"	"p.(Thr85Ile)"	""
"0001017496"	"00024179"	"70"	"3801"	"0"	"3801"	"0"	"c.3801C>A"	"r.(?)"	"p.(Cys1267*)"	"19"
"0001017774"	"00024179"	"70"	"1495"	"0"	"1495"	"0"	"c.1495dup"	"r.(?)"	"p.(Cys499Leufs*27)"	"9"
"0001018831"	"00024179"	"70"	"3843"	"0"	"3846"	"0"	"c.3843_3846del"	"r.(?)"	"p.(Lys1281Asnfs*28)"	"19"
"0001024026"	"00024179"	"70"	"2376"	"-2"	"2376"	"-2"	"c.2376-2A>G"	"r.spl?"	"p.?"	""
"0001024027"	"00024179"	"70"	"1785"	"0"	"1785"	"0"	"c.1785T>A"	"r.(?)"	"p.(Cys595*)"	""
"0001031248"	"00024179"	"30"	"3254"	"0"	"3254"	"0"	"c.3254C>T"	"r.(?)"	"p.(Ala1085Val)"	""
"0001031249"	"00024179"	"30"	"3250"	"0"	"3250"	"0"	"c.3250C>T"	"r.(?)"	"p.(His1084Tyr)"	""
"0001031250"	"00024179"	"30"	"2596"	"0"	"2596"	"0"	"c.2596C>T"	"r.(?)"	"p.(His866Tyr)"	""
"0001031251"	"00024179"	"50"	"2527"	"0"	"2527"	"0"	"c.2527A>G"	"r.(?)"	"p.(Ser843Gly)"	""
"0001031252"	"00024179"	"30"	"2160"	"0"	"2162"	"0"	"c.2160_2162del"	"r.(?)"	"p.(Ser721del)"	""
"0001031253"	"00024179"	"90"	"2092"	"0"	"2092"	"0"	"c.2092C>T"	"r.(?)"	"p.(Arg698*)"	""
"0001031254"	"00024179"	"30"	"1505"	"0"	"1505"	"0"	"c.1505G>A"	"r.(?)"	"p.(Arg502Lys)"	""
"0001031255"	"00024179"	"30"	"407"	"0"	"407"	"0"	"c.407A>G"	"r.(?)"	"p.(Asn136Ser)"	""
"0001031256"	"00024179"	"30"	"-2"	"3158"	"-2"	"3158"	"c.-2+3158A>G"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 58
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000003504"
"0000000209"	"0000003505"
"0000000210"	"0000011474"
"0000000210"	"0000011475"
"0000019900"	"0000040387"
"0000050501"	"0000079481"
"0000050642"	"0000079622"
"0000065337"	"0000097013"
"0000065341"	"0000097017"
"0000065344"	"0000097020"
"0000065347"	"0000097023"
"0000065348"	"0000097024"
"0000065349"	"0000097025"
"0000065350"	"0000097026"
"0000065351"	"0000097027"
"0000065352"	"0000097028"
"0000065353"	"0000097029"
"0000065354"	"0000097030"
"0000065355"	"0000097031"
"0000065356"	"0000097032"
"0000065357"	"0000097033"
"0000065358"	"0000097034"
"0000065359"	"0000097035"
"0000065360"	"0000097036"
"0000065361"	"0000097037"
"0000065362"	"0000097038"
"0000065363"	"0000097039"
"0000065364"	"0000097040"
"0000065365"	"0000097041"
"0000065367"	"0000097043"
"0000065368"	"0000097044"
"0000074778"	"0000119850"
"0000074779"	"0000119851"
"0000074780"	"0000119852"
"0000074781"	"0000119853"
"0000074786"	"0000119859"
"0000074788"	"0000119861"
"0000074789"	"0000119862"
"0000074790"	"0000119863"
"0000074793"	"0000119866"
"0000081550"	"0000132206"
"0000081551"	"0000132207"
"0000081552"	"0000132208"
"0000168986"	"0000379124"
"0000175291"	"0000395162"
"0000277191"	"0000631935"
"0000288259"	"0000644172"
"0000288266"	"0000644179"
"0000297095"	"0000659709"
"0000411085"	"0000868107"
"0000441873"	"0000939815"
"0000441876"	"0000939818"
"0000445334"	"0000952248"
"0000450068"	"0000971996"
"0000451343"	"0000985197"
"0000459470"	"0001017496"
"0000459680"	"0001017774"
"0000459886"	"0001018831"