### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PIGN)
# 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}}"
"PIGN"	"phosphatidylinositol glycan anchor biosynthesis, class N"	"18"	"q21.33"	"unknown"	"NC_000018.9"	"UD_136019088343"	""	"http://www.LOVD.nl/PIGN"	""	"1"	"8967"	"23556"	"606097"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/PIGN_NM_176787.4_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-11-22 16:50:21"	"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}}"
"00023987"	"PIGN"	"transcript variant 1"	"002"	"NM_176787.4"	""	"NP_789744.1"	""	""	""	"-448"	"4428"	"2796"	"59854289"	"59711457"	"00006"	"2014-11-22 16:27:23"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"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"
"00371"	"MCAHS1;GPIBD3"	"multiple congenital anomalies, hypotonia, seizures syndrome, type 1 (MCAHS-1, glycosylphosphatidylinositol deficiency, type 3 (GPIBD-3))"	"AR"	"614080"	""	"autosomal recessive"	""	"00081"	"2014-04-29 22:18:09"	"00006"	"2021-12-10 21:51:32"
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"05161"	"FRNS"	"Fryns syndrome (FRNS)"	""	"229850"	""	""	""	"00006"	"2016-04-29 17:42:03"	""	""
"05166"	"SUD"	"death, sudden, unexplained (SUD)"	""	""	""	""	""	"00006"	"2016-05-19 16:34:23"	"00006"	"2018-09-11 12:14:13"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"PIGN"	"00139"
"PIGN"	"00371"


## Individuals ## Do not remove or alter this header ##
## Count = 38
"{{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}}"
"00016532"	""	""	""	"7"	""	"00081"	"{PMID:Maydan 2011:21493957}"	"seven affected family members"	""	"yes"	"Israel"	""	"0"	""	""	"Arabic"	""
"00024935"	""	""	""	"1"	""	"00081"	"{PMID:Brady 2014:24852103}"	"affected fetus, pregnancy terminated 16w gestation; unaffected heterozygous carrier parents"	""	"yes"	"(Belgium)"	"<00y00m00d"	"0"	""	""	"Africa, north"	""
"00024936"	""	""	""	"2"	""	"00081"	"{PMID:Ohba 2014:24253414}"	"2-generation family, 2 affected sibs (borther, sister) and unaffected heterozygous carrier parents"	"-"	"no"	"Japan"	"<0d"	"0"	""	""	""	""
"00050538"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00063836"	""	""	""	"1"	""	"01556"	"{PMID:McInerney-Leo 2016:27038415}"	""	"?"	"no"	""	""	"0"	""	""	"Scandinavian"	""
"00063837"	""	""	""	"1"	""	"01556"	"{PMID:McInerney-Leo 2016:27038415}"	""	"?"	"?"	"Iraq"	""	"0"	""	""	""	""
"00103742"	""	""	""	"1"	""	"01602"	"{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}"	""	""	""	"Switzerland"	"07y"	"0"	""	""	"Europe"	"SUDS006"
"00146559"	""	""	""	"1"	""	"01807"	""	""	"F"	""	"(Germany)"	""	"0"	""	""	""	""
"00150154"	""	""	""	"1"	""	"00006"	"{PMID:Karaca 2015:26539891}"	""	""	""	""	""	"0"	"family structure in paper"	""	""	"26539891-FamBAB5703"
"00155037"	""	""	""	"1"	""	"00081"	"{PMID:Couser 2015:25920937}"	""	"M"	"no"	""	""	"0"	""	""	"Mexican American"	""
"00155038"	""	""	""	"2"	""	"00081"	"{PMID:Fleming 2016:26394714}"	""	"F"	"no"	""	""	"0"	""	""	"white"	"Patient_1"
"00155039"	""	""	"00155038"	"1"	""	"00081"	"{PMID:Fleming 2016:26394714}"	""	"F"	"no"	""	""	"0"	""	""	"white"	"Patient_2"
"00155040"	""	""	""	"1"	""	"00081"	"{PMID:Fleming 2016:26394714}"	""	"F"	""	""	""	"0"	""	""	"African American"	"Patient_3"
"00155041"	""	""	""	"1"	""	"00081"	"{PMID:Fleming 2016:26394714}"	""	"F"	""	""	""	"0"	""	""	"white - African American"	"Patient_4"
"00155042"	""	""	""	"1"	""	"00081"	"{PMID:Khayat 2016:26364997}"	""	"F"	"yes"	""	""	"0"	""	""	"Israeli–Arab"	""
"00155043"	""	""	""	"1"	""	"00081"	"{PMID:Jezela-Stanek 2016:26879448}"	""	"F"	"no"	""	""	"0"	""	""	""	"Patient_2"
"00155044"	""	""	""	"1"	""	"00081"	"{PMID:Thiffault 2017:29096607}"	""	"M"	""	""	""	"0"	""	""	""	""
"00163766"	""	""	""	"2"	""	"00081"	"{PMID:Alessandri 2018:29330547}"	""	"M"	"no"	"Reunion"	"00y00m08d"	"0"	""	""	""	"Patient_1"
"00163767"	""	""	"00163766"	"1"	""	"00081"	"{PMID:Alessandri 2018:29330547}"	""	"F"	"no"	"Reunion"	""	"0"	""	""	""	"Patient_2"
"00163768"	""	""	""	"1"	""	"00081"	"{PMID:Alessandri 2018:29330547}"	""	"F"	"no"	"Reunion"	""	"0"	""	""	""	"Patient_3"
"00163769"	""	""	""	"1"	""	"00081"	"{PMID:Alessandri 2018:29330547}"	""	"F"	"no"	"Mayotte"	""	"0"	""	""	""	"Patient_4"
"00163771"	""	""	""	"2"	""	"00081"	"{PMID:Alessandri 2018:29330547}"	""	"F"	"yes"	""	"00y00m02d"	"0"	""	""	"North African"	"Patient_5"
"00163773"	""	""	"00163771"	"1"	""	"00081"	"{PMID:Alessandri 2018:29330547}"	""	"M"	"yes"	""	""	"0"	""	""	"North African"	"Patient_6"
"00163931"	""	""	""	"1"	""	"00081"	"{PMID:Pagnamenta 2017:28327575}"	""	"F"	"no"	""	""	"0"	""	""	"White British white"	"259633"
"00163932"	""	""	""	"1"	""	"00081"	"{PMID:Nakagawa et al.2015:26419326}"	""	"M"	"no"	"Japan"	""	"0"	""	""	""	""
"00183682"	""	""	""	"1"	""	"00006"	"{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}"	""	""	""	"Spain"	""	"0"	""	""	""	"27620904-Pat27"
"00207535"	""	""	""	"1"	""	"00081"	"{PMID:Xu et al., 2017:28273706}"	""	"M"	""	"China"	">00y04m"	"0"	""	""	"Chinese"	"Patient"
"00213053"	""	""	""	"1"	""	"00081"	"{PMID:Thuresson et al. 2018:30525197}"	""	"F"	"yes"	""	""	"0"	""	""	""	"Fam1_Case1"
"00213134"	""	""	""	"1"	""	"00081"	"{PMID:Thuresson et al., 2018:30525197}"	""	"M"	"yes"	""	""	"0"	""	""	""	"Fam1, Case2"
"00274143"	""	""	""	"1"	""	"00006"	"{PMID:Pronicka 2016:27290639}"	""	"F"	""	"Poland"	""	"0"	""	""	""	"Pat6"
"00291995"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291996"	""	""	""	"24"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00314861"	""	""	""	"1"	""	"00006"	"{PMID:Zhu 2015:25590979}"	""	"F"	""	"Israel"	""	"0"	""	""	""	"Trio7"
"00374806"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2534"
"00386391"	""	""	""	"1"	""	"01164"	""	""	"M"	"yes"	""	""	"0"	""	""	"Arabian"	"187571"
"00401573"	""	""	""	"1"	""	"02494"	""	""	"F"	"no"	"Spain"	""	""	""	""	""	"188P"
"00427981"	""	""	""	"2"	""	"00006"	"{PMID:Bournazos 2022:34906502}"	"family, affected 2 affected fetuses)"	""	""	"Australia"	""	"0"	""	""	""	"A040"
"00452329"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 33
"{{individualid}}"	"{{diseaseid}}"
"00016532"	"00371"
"00024935"	"00371"
"00024936"	"00371"
"00050538"	"00198"
"00063836"	"05161"
"00063837"	"05161"
"00103742"	"05166"
"00146559"	"00198"
"00150154"	"00198"
"00155037"	"00371"
"00155042"	"00371"
"00163766"	"05161"
"00163767"	"05161"
"00163768"	"05161"
"00163769"	"05161"
"00163771"	"05161"
"00163773"	"05161"
"00163931"	"04270"
"00163932"	"00139"
"00163932"	"04270"
"00183682"	"00139"
"00207535"	"00371"
"00213053"	"00371"
"00213134"	"00371"
"00274143"	"00198"
"00291995"	"00198"
"00291996"	"00198"
"00314861"	"00198"
"00374806"	"00198"
"00386391"	"00371"
"00401573"	"00139"
"00427981"	"00198"
"00452329"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00371, 04270, 05161, 05166
## Count = 26
"{{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}}"
"0000021049"	"00371"	"00016532"	"00006"	"Isolated (sporadic)"	""	"developmental delay, dysmorphic features, multiple congenital anomalies involving the cardiac, genitourinary and gastrointestinal systems; severe neurological impairment with chorea and seizures leading to early death"	""	""	""	""	""	""	""	""	""	""	""
"0000021051"	"00371"	"00024935"	"00081"	"Isolated (sporadic)"	""	"multiple congenital anomalies including bilateral diaphragmatic hernia, cardiovascular anomalies, segmental renal dysplasia, facial dysmorphism, cleft palate, oligodactyly"	""	""	""	""	""	""	""	""	""	""	""
"0000021052"	"00371"	"00024936"	"00081"	"Familial, autosomal recessive"	""	"see paper; congenital anomalies, developmental delay, hypotonia, epilepsy, progressive cerebellar atrophy"	""	""	""	""	""	""	""	""	""	""	""
"0000037150"	"00198"	"00050538"	"00006"	"Isolated (sporadic)"	""	"microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure"	""	""	""	""	""	""	""	""	""	""	""
"0000050839"	"05161"	"00063836"	"01556"	"Familial, autosomal recessive"	""	"Fryns syndrome diagnosed prenatally"	""	""	""	""	""	""	""	""	""	""	""
"0000050840"	"05161"	"00063837"	"01556"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000081679"	"05166"	"00103742"	"01602"	"Unknown"	""	"SUD"	""	""	""	""	""	""	""	""	""	""	""
"0000119300"	"00198"	"00146559"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Language impairment (HP:0002463); Seizures (HP:0001250); Microcephaly (HP:0000252)"	""	""	""	""	""	""	""	""	""	""	""
"0000122556"	"00198"	"00150154"	"00006"	"Familial, autosomal recessive"	""	"intellectual diability, NORMAL MRI, seizures, developmental delay, CP"	""	""	""	""	""	""	""	""	""	""	""
"0000128893"	"05161"	"00163766"	"00081"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000128894"	"05161"	"00163767"	"00081"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000128895"	"05161"	"00163768"	"00081"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000128896"	"05161"	"00163769"	"00081"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000128897"	"05161"	"00163771"	"00081"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000128898"	"05161"	"00163773"	"00081"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000144368"	"00139"	"00183682"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MCAHS-1"	"intellectual disability"	""
"0000155313"	"00371"	"00207535"	"00081"	"Familial, autosomal recessive"	""	"epilepsy, hypotonia, developmental delay, accompanied by nearly normal laboratory test results"	""	""	""	""	""	""	""	""	""	""	""
"0000161610"	"00371"	"00213053"	"00081"	"Familial, autosomal recessive"	""	"Severe ID (no social interaction or speech), severe hypotonia, epilepsy/focal seizures. Thin corpus callossum, cerebellar atrophy, increased cerebrospinal fluid spaces, visual impairment (pathological VEP), PEG feeding. Normal serum alkaline phosphatase levels. Appearance: Microcephaly (OFC −4SD), round face, low anterior hairline, broad nasal bridge, high-arched palate, small chin, slender feet and hirsutism. Scoliosis. Dry skin, peeling on feet."	""	""	""	""	""	""	""	""	""	""	""
"0000161611"	"00371"	"00213134"	"00081"	"Familial, autosomal recessive"	""	"Severe ID (no social interaction or speech), severe hypotonia, epilepsy/focal seizures. Thin corpus callossum, PEG feeding. Normal serum alkaline phosphatase levels. Appearance: Bitemporal narrowing, broad nasal bridge, large ears, thin upper-vermillion and a smooth, long philtrum. Scoliosis. Dry skin, peeling on feet."	""	""	""	""	""	""	""	""	""	""	""
"0000209088"	"00198"	"00274143"	"00006"	"Familial, autosomal recessive"	""	"mitochondrial disease criteria score 4"	""	""	""	""	""	""	""	""	""	"expected mitochondrial disorder"	""
"0000238619"	"00198"	"00314861"	"00006"	"Familial, autosomal recessive"	"4y"	"Epileptic encephalopathy, myoclonic jerks from day 1, profound intellectual disability, cardiomyopathy, cortical blindness, tracheostomy, PEG feeding, hydronephrosis, progressive cerebellar and cerebral atrophy, and leukoencephalopathy."	"1d"	""	""	""	""	""	""	""	""	""	""
"0000270016"	"00198"	"00374806"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"epilepsy, autism spectrum disorder"	""
"0000280198"	"00371"	"00386391"	"01164"	"Familial, autosomal recessive"	"00y"	"Omphalocele, Hydronephrosis, Echogenic fetal bowel, Increased nuchal translucency, Dextrocardia, Abnormality of ductus venosus blood flow"	""	""	""	""	""	""	""	""	""	"prenatal ultrsound"	""
"0000318927"	"00198"	"00427981"	"00006"	"Familial, autosomal recessive"	"<00y00m00d"	"termination of pregnancy because of multiple congenital anomalies (diaphragmatic defect, pulmonary hypoplasia, cardiovascular malformation, genital malformation, absent olfactory bulbs, absent 12th ribs)"	""	""	""	""	""	""	""	""	"MCAHS1"	"ultiple congenital anomalies"	""
"0000322143"	"05166"	"00103742"	"01602"	"Unknown"	""	"SUDEP"	""	""	""	""	""	""	""	""	""	""	""
"0000340933"	"00198"	"00452329"	"03544"	"Isolated (sporadic)"	""	"HP:0001252, HP:0001344, HP:0000297, HP:0000486, HP:0000218, HP:0012428"	""	""	""	""	""	""	""	""	"MCAHS1"	"hypotonia"	""


## Screenings ## Do not remove or alter this header ##
## Count = 38
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000016478"	"00016532"	"1"	"00081"	"00081"	"2014-04-29 22:21:14"	""	""	"?"	"DNA"	""	""
"0000024937"	"00024935"	"1"	"00006"	"00006"	"2014-11-22 16:06:09"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000024938"	"00024936"	"1"	"00006"	"00006"	"2014-11-22 16:33:50"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000050483"	"00050538"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000063967"	"00063836"	"1"	"01556"	"01556"	"2016-04-19 01:59:06"	""	""	"SEQ"	"DNA"	"amniocytes"	""
"0000063968"	"00063837"	"1"	"01556"	"01556"	"2016-04-19 02:27:25"	""	""	"SEQ"	"DNA"	"amniocytes"	""
"0000147414"	"00146559"	"0"	"01807"	"01807"	"2017-12-29 11:40:09"	""	""	"SEQ"	"DNA"	""	""
"0000151009"	"00150154"	"1"	"00006"	"00006"	"2018-01-13 12:41:38"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000155901"	"00155037"	"1"	"00081"	"00081"	"2018-03-12 19:46:05"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	"NextGen Exome Sequencing (NCGENES)"
"0000155902"	"00155038"	"1"	"00081"	"00081"	"2018-03-12 20:17:49"	""	""	"?"	"DNA"	""	""
"0000155903"	"00155039"	"1"	"00081"	"00081"	"2018-03-12 20:27:14"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000155904"	"00155040"	"1"	"00081"	"00081"	"2018-03-12 20:36:07"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000155905"	"00155041"	"1"	"00081"	"00081"	"2018-03-12 20:43:49"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000155906"	"00155042"	"1"	"00081"	"00081"	"2018-03-12 20:59:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000155907"	"00155043"	"1"	"00081"	"00081"	"2018-03-12 21:07:13"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	"WES"
"0000155908"	"00155044"	"1"	"00081"	"00081"	"2018-03-12 21:26:07"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	"WES"
"0000164629"	"00163766"	"1"	"00081"	"00081"	"2018-04-10 21:04:45"	""	""	"PCR"	"DNA"	""	"exons 5–7 of PIGN as predicted by WES and XHMM software"
"0000164630"	"00163767"	"1"	"00081"	"00081"	"2018-04-10 21:34:10"	""	""	"PCR"	"DNA"	""	""
"0000164631"	"00163768"	"1"	"00081"	"00081"	"2018-04-10 21:48:22"	""	""	"PCR"	"DNA"	""	""
"0000164632"	"00163769"	"1"	"00081"	"00081"	"2018-04-10 22:49:02"	""	""	"PCR"	"DNA"	""	""
"0000164634"	"00163771"	"1"	"00081"	"00081"	"2018-04-10 23:08:23"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000164635"	"00163773"	"1"	"00081"	"00081"	"2018-04-10 23:20:39"	""	""	"SEQ"	"DNA"	""	"Sanger sequencing"
"0000164794"	"00163931"	"1"	"00081"	"00081"	"2018-04-26 19:05:06"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000164795"	"00163932"	"1"	"00081"	"00081"	"2018-04-26 22:07:55"	""	""	"SEQ-NG"	"DNA"	""	"Target exome sequencing of the 26 genes related to GPI-APs"
"0000184650"	"00183682"	"1"	"00006"	"00006"	"2018-10-27 10:06:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"1256 gene panel"
"0000208574"	"00207535"	"1"	"00081"	"00081"	"2018-11-23 20:07:11"	""	""	"SEQ;SEQ-NG"	"DNA"	"Peripheral blood"	""
"0000214128"	"00213053"	"1"	"00081"	"00081"	"2019-01-07 21:43:08"	""	""	"SEQ-NG"	"DNA"	""	"WGS Illumina"
"0000214207"	"00213134"	"1"	"00081"	"00081"	"2019-01-11 00:45:42"	""	""	"SEQ-NG"	"DNA"	""	"WGS Illumina"
"0000275298"	"00274143"	"1"	"00006"	"00006"	"2019-12-24 17:05:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000293163"	"00291995"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293164"	"00291996"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000316035"	"00314861"	"1"	"00006"	"00006"	"2020-10-20 15:09:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000376000"	"00374806"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000387619"	"00386391"	"1"	"01164"	"01164"	"2021-10-22 13:25:09"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000402816"	"00401573"	"1"	"02494"	"02494"	"2022-02-01 10:23:05"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000429394"	"00427981"	"1"	"00006"	"00006"	"2022-12-19 13:11:26"	""	""	"RT-PCR;SEQ;SEQ-NG-RNA"	"DNA;RNA"	"whole blood, fibroblasts, liver"	"trio WES"
"0000432954"	"00103742"	"1"	"01602"	"01602"	"2023-02-14 14:12:09"	"01602"	"2023-02-15 09:42:51"	"SEQ-NG"	"DNA"	""	""
"0000453931"	"00452329"	"1"	"03544"	"03544"	"2024-07-17 08:41:41"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 18
"{{screeningid}}"	"{{geneid}}"
"0000016478"	"PIGN"
"0000024937"	"PIGN"
"0000024938"	"PIGN"
"0000063967"	"PIGN"
"0000063968"	"PIGN"
"0000151009"	"PIGN"
"0000164629"	"PIGN"
"0000164630"	"PIGN"
"0000164631"	"PIGN"
"0000164632"	"PIGN"
"0000184650"	"PIGN"
"0000208574"	"PIGN"
"0000214128"	"PIGN"
"0000214207"	"PIGN"
"0000275298"	"PIGN"
"0000316035"	"PIGN"
"0000376000"	"PIGN"
"0000387619"	"PIGN"


## 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 = 142
"{{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}}"
"0000036297"	"3"	"99"	"18"	"59763135"	"59763135"	"subst"	"4.07415E-6"	"00081"	"PIGN_000001"	"g.59763135C>T"	""	"{PMID:Maydan 2011:21493957}, {OMIM606097:0001}"	""	""	"dramatic decrease in CD59 expression on the fibroblast cell surface in affected individuals"	"Germline"	"yes"	"rs397514475"	"0"	""	""	"g.62095902C>T"	""	"pathogenic"	""
"0000047718"	"11"	"90"	"18"	"59813256"	"59813256"	"subst"	"0"	"00081"	"PIGN_000002"	"g.59813256A>G"	""	"{PMID:Ohba 2014:24253414}, {OMIM606097:0002}"	""	""	"expression of GPI-anchored proteins such as CD16 and CD24 on granulocytes was significantly decreased, and expression of CD59 in PIGN-knockout human embryonic kidney 293 cells was hardly restored suggesting complete loss of PIGN activity"	"Germline"	"yes"	"rs587777186"	"0"	""	""	"g.62146023A>G"	""	"pathogenic"	""
"0000047719"	"21"	"90"	"18"	"59810539"	"59810539"	"subst"	"7.41007E-5"	"00081"	"PIGN_000003"	"g.59810539C>T"	""	"{PMID:Ohba 2014:24253414}, {OMIM606097:0003}"	""	""	"expression of GPI-anchored proteins such as CD16 and CD24 on granulocytes was significantly decreased, and expression of CD59 in PIGN-knockout human embryonic kidney 293 cells was hardly restored suggesting complete loss of PIGN activity"	"Germline"	"yes"	"rs587777187"	"0"	""	""	"g.62143306C>T"	""	"pathogenic"	""
"0000047721"	"3"	"90"	"18"	"59777066"	"59777066"	"subst"	"4.21699E-6"	"00081"	"PIGN_000004"	"g.59777066C>T"	""	"{PMID:Brady 2014:24852103}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.62109833C>T"	""	"pathogenic"	""
"0000079672"	"0"	"90"	"18"	"48362664"	"78015180"	"del"	"0"	"00006"	"ATP8B1_000025"	"g.48362664_78015180del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"mosaicism, hemizygous in 0.46 cells"	"Somatic"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000094923"	"11"	"70"	"18"	"59770029"	"59770029"	"subst"	"0"	"01556"	"PIGN_000007"	"g.59770029G>A"	""	"{PMID:McInerney-Leo 2016:27038415}"	""	""	"not in dbSNP, 1000 genomes, ExAC or 2000 internal controls"	"Germline"	"yes"	""	"0"	""	""	"g.62102796G>A"	""	"likely pathogenic"	""
"0000094924"	"21"	"90"	"18"	"59774218"	"59774218"	"subst"	"3.65032E-5"	"01556"	"PIGN_000006"	"g.59774218C>G"	"0.000083 in ExAC"	"{PMID:McInerney-Leo 2016:27038415}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.62106985C>G"	""	"pathogenic"	""
"0000094925"	"3"	"70"	"18"	"59814315"	"59814315"	"subst"	"8.29325E-6"	"01556"	"PIGN_000005"	"g.59814315T>A"	""	"{PMID:McInerney-Leo 2016:27038415}"	""	""	"not in dbSNP, 1000 genomes, ExAC and 2000 internal controls"	"Germline"	"yes"	""	"0"	""	""	"g.62147082T>A"	""	"likely pathogenic"	""
"0000240211"	"3"	"70"	"18"	"59780362"	"59780362"	"subst"	"1.79131E-5"	"01807"	"PIGN_000008"	"g.59780362C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.62113129C>T"	""	"likely pathogenic"	""
"0000244166"	"3"	"90"	"18"	"59807680"	"59807680"	"subst"	"0"	"00006"	"PIGN_000009"	"g.59807680A>C"	""	"{PMID:Karaca 2015:26539891}"	""	"NM_176787: c.T996G; p.I332M"	""	"Germline"	""	""	"0"	""	""	"g.62140447A>C"	""	"pathogenic"	""
"0000251047"	"0"	"10"	"18"	"59780424"	"59780424"	"subst"	"0.177628"	"02326"	"PIGN_000035"	"g.59780424A>G"	""	""	""	"PIGN(NM_176787.4):c.1377T>C (p.S459=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62113191A>G"	""	"benign"	""
"0000251077"	"0"	"10"	"18"	"59713173"	"59713173"	"subst"	"0.00942004"	"02326"	"PIGN_000013"	"g.59713173A>C"	""	""	""	"PIGN(NM_012327.5):c.2712T>G (p.(Phe904Leu)), PIGN(NM_176787.4):c.2712T>G (p.F904L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62045940A>C"	""	"benign"	""
"0000251629"	"0"	"30"	"18"	"59739975"	"59739975"	"del"	"0"	"02326"	"PIGN_000017"	"g.59739975del"	""	""	""	"PIGN(NM_176787.4):c.2620-5delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62072742del"	""	"likely benign"	""
"0000251630"	"0"	"10"	"18"	"59749993"	"59749993"	"subst"	"0.00154293"	"02326"	"PIGN_000023"	"g.59749993A>G"	""	""	""	"PIGN(NM_176787.4):c.2503-14T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62082760A>G"	""	"benign"	""
"0000252310"	"0"	"30"	"18"	"59740228"	"59740228"	"subst"	"0"	"02326"	"PIGN_000019"	"g.59740228A>T"	""	""	""	"PIGN(NM_176787.4):c.2620-270T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62072995A>T"	""	"likely benign"	""
"0000252311"	"0"	"30"	"18"	"59749772"	"59749772"	"subst"	"0"	"02326"	"PIGN_000022"	"g.59749772A>G"	""	""	""	"PIGN(NM_176787.4):c.2576+134T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62082539A>G"	""	"likely benign"	""
"0000252312"	"0"	"30"	"18"	"59768245"	"59768245"	"subst"	"0"	"02326"	"PIGN_000029"	"g.59768245A>C"	""	""	""	"PIGN(NM_176787.4):c.2077+63T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62101012A>C"	""	"likely benign"	""
"0000256113"	"0"	"50"	"18"	"59757755"	"59757755"	"subst"	"1.22622E-5"	"01943"	"PIGN_000028"	"g.59757755A>C"	""	""	""	"PIGN(NM_176787.4):c.2237T>G (p.I746R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62090522A>C"	""	"VUS"	""
"0000296952"	"0"	"10"	"18"	"59805532"	"59805532"	"subst"	"1"	"02325"	"PIGN_000036"	"g.59805532T>C"	""	""	""	"PIGN(NM_176787.4):c.1117-1A>G, PIGN(NM_176787.5):c.1117-1A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62138299="	""	"benign"	""
"0000296953"	"0"	"30"	"18"	"59739974"	"59739975"	"dup"	"0"	"02325"	"PIGN_000018"	"g.59739974_59739975dup"	""	""	""	"PIGN(NM_176787.5):c.2620-6_2620-5dupTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62072741_62072742dup"	""	"likely benign"	""
"0000296954"	"0"	"30"	"18"	"59713102"	"59713102"	"subst"	"0.00092646"	"02325"	"PIGN_000012"	"g.59713102C>T"	""	""	""	"PIGN(NM_176787.5):c.2783G>A (p.S928N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62045869C>T"	""	"likely benign"	""
"0000296955"	"0"	"10"	"18"	"59821843"	"59821843"	"subst"	"0.0517845"	"02325"	"PIGN_000042"	"g.59821843T>C"	""	""	""	"PIGN(NM_176787.5):c.484A>G (p.K162E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62154610T>C"	""	"benign"	""
"0000296956"	"0"	"10"	"18"	"59814324"	"59814324"	"subst"	"0.787721"	"02325"	"PIGN_000039"	"g.59814324G>C"	""	""	""	"PIGN(NM_176787.4):c.685C>G (p.H229D), PIGN(NM_176787.5):c.685C>G (p.H229D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62147091G>C"	""	"benign"	""
"0000296957"	"0"	"10"	"18"	"59814268"	"59814268"	"subst"	"0.621545"	"02325"	"PIGN_000038"	"g.59814268G>A"	""	""	""	"PIGN(NM_176787.4):c.741C>T (p.H247=), PIGN(NM_176787.5):c.741C>T (p.H247=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62147035G>A"	""	"benign"	""
"0000298859"	"0"	"70"	"18"	"59756005"	"59756005"	"subst"	"0"	"02329"	"PIGN_000025"	"g.59756005C>T"	""	""	""	"PIGN(NM_176787.4):c.2354G>A (p.R785H), PIGN(NM_176787.5):c.2354G>A (p.R785H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62088772C>T"	""	"likely pathogenic"	""
"0000298860"	"0"	"50"	"18"	"59752455"	"59752455"	"subst"	"0.000139259"	"02329"	"PIGN_000024"	"g.59752455C>T"	""	""	""	"PIGN(NM_176787.5):c.2413G>A (p.A805T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62085222C>T"	""	"VUS"	""
"0000298861"	"0"	"90"	"18"	"59815446"	"59815446"	"subst"	"0"	"02329"	"PIGN_000040"	"g.59815446C>T"	""	""	""	"PIGN(NM_176787.5):c.674+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62148213C>T"	""	"pathogenic"	""
"0000300761"	"0"	"30"	"18"	"59712919"	"59712919"	"dup"	"0"	"02326"	"PIGN_000011"	"g.59712919dup"	""	""	""	"PIGN(NM_176787.4):c.*178dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62045686dup"	""	"likely benign"	""
"0000300763"	"0"	"30"	"18"	"59805532"	"59805532"	"subst"	"1"	"02326"	"PIGN_000036"	"g.59805532T>C"	""	""	""	"PIGN(NM_176787.4):c.1117-1A>G, PIGN(NM_176787.5):c.1117-1A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62138299="	""	"likely benign"	""
"0000300764"	"0"	"10"	"18"	"59780393"	"59780393"	"subst"	"0.11052"	"02326"	"PIGN_000034"	"g.59780393T>A"	""	""	""	"PIGN(NM_176787.4):c.1408A>T (p.I470L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62113160T>A"	""	"benign"	""
"0000300765"	"0"	"10"	"18"	"59774037"	"59774037"	"subst"	"0.173258"	"02326"	"PIGN_000031"	"g.59774037C>T"	""	""	""	"PIGN(NM_176787.4):c.1752G>A (p.L584=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62106804C>T"	""	"benign"	""
"0000300766"	"0"	"90"	"18"	"59763135"	"59763135"	"subst"	"4.07415E-6"	"02326"	"PIGN_000001"	"g.59763135C>T"	""	""	""	"PIGN(NM_176787.4):c.2126G>A (p.R709Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62095902C>T"	""	"pathogenic"	""
"0000300767"	"0"	"30"	"18"	"59828374"	"59828374"	"subst"	"0.00147472"	"02326"	"PIGN_000045"	"g.59828374C>T"	""	""	""	"PIGN(NM_176787.4):c.213G>A (p.P71=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62161141C>T"	""	"likely benign"	""
"0000300768"	"0"	"30"	"18"	"59757754"	"59757754"	"subst"	"0.00133496"	"02326"	"PIGN_000027"	"g.59757754T>C"	""	""	""	"PIGN(NM_176787.4):c.2238A>G (p.I746M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62090521T>C"	""	"likely benign"	""
"0000300769"	"0"	"30"	"18"	"59757698"	"59757698"	"del"	"0"	"02326"	"PIGN_000026"	"g.59757698del"	""	""	""	"PIGN(NM_176787.4):c.2283+13delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62090465del"	""	"likely benign"	""
"0000300770"	"0"	"30"	"18"	"59741898"	"59741898"	"subst"	"0"	"02326"	"PIGN_000020"	"g.59741898C>T"	""	""	""	"PIGN(NM_176787.4):c.2619+114G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62074665C>T"	""	"likely benign"	""
"0000300771"	"0"	"10"	"18"	"59741998"	"59741998"	"subst"	"0.0149099"	"02326"	"PIGN_000021"	"g.59741998C>T"	""	""	""	"PIGN(NM_176787.4):c.2619+14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62074765C>T"	""	"benign"	""
"0000300774"	"0"	"30"	"18"	"59739975"	"59739975"	"dup"	"0"	"02326"	"PIGN_000016"	"g.59739975dup"	""	""	""	"PIGN(NM_012327.5):c.2620-5dup (p.?), PIGN(NM_176787.4):c.2620-5dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62072742dup"	""	"likely benign"	""
"0000300775"	"0"	"30"	"18"	"59821799"	"59821799"	"subst"	"0.00069813"	"02326"	"PIGN_000041"	"g.59821799C>T"	""	""	""	"PIGN(NM_176787.4):c.528G>A (p.T176=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62154566C>T"	""	"likely benign"	""
"0000300776"	"0"	"10"	"18"	"59814324"	"59814324"	"subst"	"0.787721"	"02326"	"PIGN_000039"	"g.59814324G>C"	""	""	""	"PIGN(NM_176787.4):c.685C>G (p.H229D), PIGN(NM_176787.5):c.685C>G (p.H229D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62147091G>C"	""	"benign"	""
"0000300777"	"0"	"10"	"18"	"59814268"	"59814268"	"subst"	"0.621545"	"02326"	"PIGN_000038"	"g.59814268G>A"	""	""	""	"PIGN(NM_176787.4):c.741C>T (p.H247=), PIGN(NM_176787.5):c.741C>T (p.H247=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62147035G>A"	""	"benign"	""
"0000300778"	"0"	"30"	"18"	"59814085"	"59814085"	"subst"	"0"	"02326"	"PIGN_000037"	"g.59814085T>C"	""	""	""	"PIGN(NM_176787.4):c.805+119A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62146852T>C"	""	"likely benign"	""
"0000305605"	"0"	"50"	"18"	"59756005"	"59756005"	"subst"	"0"	"01943"	"PIGN_000025"	"g.59756005C>T"	""	""	""	"PIGN(NM_176787.4):c.2354G>A (p.R785H), PIGN(NM_176787.5):c.2354G>A (p.R785H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62088772C>T"	""	"VUS"	""
"0000325934"	"0"	"50"	"18"	"59780367"	"59780367"	"subst"	"0"	"01804"	"PIGN_000032"	"g.59780367C>T"	""	""	""	"PIGN(NM_012327.5):c.1434G>A (p.(=)), PIGN(NM_176787.4):c.1434G>A (p.K478=), PIGN(NM_176787.5):c.1434G>A (p.K478=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62113134C>T"	""	"VUS"	""
"0000325937"	"0"	"30"	"18"	"59825010"	"59825010"	"subst"	"0.00015621"	"01804"	"PIGN_000044"	"g.59825010T>C"	""	""	""	"PIGN(NM_012327.5):c.253A>G (p.(Ile85Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62157777T>C"	""	"likely benign"	""
"0000325938"	"0"	"30"	"18"	"59828420"	"59828420"	"subst"	"0.0124642"	"01804"	"PIGN_000046"	"g.59828420G>A"	""	""	""	"PIGN(NM_012327.5):c.167C>T (p.(Ala56Val)), PIGN(NM_176787.4):c.167C>T (p.A56V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62161187G>A"	""	"likely benign"	""
"0000325939"	"0"	"30"	"18"	"59854886"	"59854886"	"subst"	"0.00673762"	"01804"	"KIAA1468_000001"	"g.59854886G>A"	""	""	""	"KIAA1468(NM_020854.3):c.148G>A (p.(Gly50Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62187653G>A"	""	"likely benign"	""
"0000347101"	"0"	"70"	"18"	"59810570"	"59810570"	"subst"	"3.03794E-5"	"02327"	"PIGN_000050"	"g.59810570A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62143337A>C"	""	"likely pathogenic"	""
"0000347270"	"0"	"50"	"18"	"59768400"	"59768400"	"subst"	"0"	"02327"	"PIGN_000048"	"g.59768400A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62101167A>G"	""	"VUS"	""
"0000347357"	"0"	"90"	"18"	"59821772"	"59821779"	"del"	"0.000127742"	"02327"	"PIGN_000051"	"g.59821772_59821779del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62154539_62154546del"	""	"pathogenic"	""
"0000349201"	"0"	"70"	"18"	"59739907"	"59739907"	"subst"	"0"	"02327"	"PIGN_000047"	"g.59739907T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62072674T>C"	""	"likely pathogenic"	""
"0000357738"	"21"	"70"	"18"	"59824398"	"59824398"	"subst"	"0"	"00081"	"PIGN_000052"	"g.59824398A>C"	""	"{PMID:Couser et al. 2015:25920937}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62157165A>C"	""	"likely pathogenic"	""
"0000357739"	"11"	"70"	"18"	"59749906"	"59749906"	"subst"	"0"	"00081"	"PIGN_000053"	"g.59749906C>G"	""	"{PMID:Couser et al. 2015:25920937}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62082673C>G"	""	"likely pathogenic"	""
"0000357740"	"21"	"70"	"18"	"59756019"	"59756019"	"subst"	"0"	"00081"	"PIGN_000054"	"g.59756019A>T"	""	"{PMID:Fleming et al. 2016:26394714}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62088786A>T"	""	"likely pathogenic"	""
"0000357741"	"11"	"70"	"18"	"59780362"	"59780362"	"subst"	"1.79131E-5"	"00081"	"PIGN_000008"	"g.59780362C>T"	""	"{PMID:Fleming et al. 2016:26394714}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62113129C>T"	""	"likely pathogenic"	""
"0000357742"	"21"	"70"	"18"	"59756019"	"59756019"	"subst"	"0"	"00081"	"PIGN_000054"	"g.59756019A>T"	""	"{PMID:Fleming et al. 2016:26394714}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62088786A>T"	""	"likely pathogenic"	""
"0000357743"	"11"	"70"	"18"	"59780362"	"59780362"	"subst"	"1.79131E-5"	"00081"	"PIGN_000008"	"g.59780362C>T"	""	"{PMID:Fleming et al. 2016:26394714}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62113129C>T"	""	"likely pathogenic"	""
"0000357744"	"21"	"50"	"18"	"59814300"	"59814300"	"subst"	"2.0634E-5"	"00081"	"PIGN_000055"	"g.59814300C>T"	""	"{PMID:Fleming et al. 2016:26394714}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62147067C>T"	""	"VUS"	""
"0000357745"	"11"	"50"	"18"	"59752456"	"59752457"	"del"	"0"	"00081"	"PIGN_000056"	"g.59752456_59752457delinsCT"	""	"{PMID:Fleming et al. 2016:26394714}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62085223_62085224delinsCT"	""	"VUS"	""
"0000357746"	"21"	"70"	"18"	"59821772"	"59821779"	"del"	"0.000127742"	"00081"	"PIGN_000051"	"g.59821772_59821779del"	""	"{PMID:Fleming et al. 2016:26394714}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62154539_62154546del"	""	"likely pathogenic"	""
"0000357747"	"3"	"70"	"18"	"59814254"	"59814254"	"subst"	"0"	"00081"	"PIGN_000057"	"g.59814254T>A"	""	"{PMID:Khayat et al. 2016:26364997}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62147021T>A"	""	"likely pathogenic"	""
"0000357748"	"11"	"70"	"18"	"59814219"	"59814219"	"subst"	"0"	"00081"	"PIGN_000058"	"g.59814219C>T"	""	"{PMID:Jezela-Stanek et al. 2016:26879448}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62146986C>T"	""	"likely pathogenic"	""
"0000357749"	"21"	"70"	"18"	"59810570"	"59810570"	"subst"	"3.03794E-5"	"00081"	"PIGN_000050"	"g.59810570A>C"	""	"{PMID:Jezela-Stanek et al. 2016:26879448}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62143337A>C"	""	"likely pathogenic"	""
"0000357750"	"21"	"70"	"18"	"59828406"	"59828406"	"subst"	"1.22004E-5"	"00081"	"PIGN_000059"	"g.59828406C>A"	""	"{PMID:Thiffault et al. 2017:29096607}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62161173C>A"	""	"likely pathogenic"	""
"0000357751"	"11"	"70"	"18"	"59824979"	"59824979"	"subst"	"0"	"00081"	"PIGN_000060"	"g.59824979C>T"	""	"{PMID:Thiffault et al. 2017:29096607}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62157746C>T"	""	"likely pathogenic"	""
"0000368181"	"11"	"70"	"18"	"59821582"	"59824939"	"del"	"0"	"00081"	"PIGN_000061"	"g.(59815572_59821582)_(59824939_59828366)del"	""	"{PMID:Fleming et al. 2016:26394714}"	""	"chr18:59,821,582-59,824,939"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000368202"	"3"	"70"	"18"	"59819870"	"59824934"	"del"	"0"	"00081"	"PIGN_000062"	"g.59819870_59824934del"	""	"{PMID:Alessandri et al.2018:29330547}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.62152637_62157701del"	""	"likely pathogenic"	""
"0000368203"	"3"	"70"	"18"	"59819870"	"59824934"	"del"	"0"	"00081"	"PIGN_000062"	"g.59819870_59824934del"	""	"{PMID:Alessandri et al.2018:29330547}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.62152637_62157701del"	""	"likely pathogenic"	""
"0000368204"	"3"	"70"	"18"	"59819870"	"59824934"	"del"	"0"	"00081"	"PIGN_000062"	"g.59819870_59824934del"	""	"{PMID:Alessandri et al.2018:29330547}"	""	""	"The deletion coordinates might not exactly be c.329_549+1908del but is known to be present at that region and suggests the absence of exons 6 and 7"	"Germline"	"yes"	""	"0"	""	""	"g.62152637_62157701del"	""	"likely pathogenic"	""
"0000368205"	"3"	"70"	"18"	"59819870"	"59824934"	"del"	"0"	"00081"	"PIGN_000062"	"g.59819870_59824934del"	""	"{PMID:Alessandri et al.2018:29330547}"	""	""	"The deletion coordinates might not exactly be c.329_549+1908del but is known to be present at that region and suggests the absence of exons 6 and 7"	"Germline"	"yes"	""	"0"	""	""	"g.62152637_62157701del"	""	"likely pathogenic"	""
"0000368207"	"3"	"70"	"18"	"59824383"	"59824383"	"dup"	"0"	"00081"	"PIGN_000063"	"g.59824383dup"	""	"{PMID:Alessandri et al.2018:29330547}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.62157150dup"	""	"likely pathogenic"	""
"0000368208"	"3"	"70"	"18"	"59824383"	"59824383"	"dup"	"0"	"00081"	"PIGN_000063"	"g.59824383dup"	""	"{PMID:Alessandri et al.2018:29330547}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.62157150dup"	""	"likely pathogenic"	""
"0000368404"	"11"	"70"	"18"	"59810570"	"59810570"	"subst"	"3.03794E-5"	"00081"	"PIGN_000050"	"g.59810570A>C"	""	"{PMID:Pagnamenta et al. 2017:28327575}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.62143337A>C"	""	"likely pathogenic"	""
"0000368405"	"21"	"70"	"18"	"59814315"	"59814315"	"subst"	"8.29325E-6"	"00081"	"PIGN_000005"	"g.59814315T>A"	""	"{PMID:Pagnamenta et al. 2017:28327575}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.62147082T>A"	""	"likely pathogenic"	""
"0000368406"	"11"	"70"	"18"	"59813256"	"59813256"	"subst"	"0"	"00081"	"PIGN_000002"	"g.59813256A>G"	""	"{PMID:Nakagawa et al. 2015:26419326}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.62146023A>G"	""	"likely pathogenic"	""
"0000368407"	"21"	"70"	"18"	"59774273"	"59828373"	"del"	"0"	"00081"	"PIGN_000064"	"g.59774273_59828373del"	""	"{PMID:Nakagawa et al. 2015:26419326}"	""	""	"Deletion of exons 2-14. Also carried by healthy sibling"	"Germline"	"yes"	""	"0"	""	""	"g.62107040_62161140del"	""	"likely pathogenic"	""
"0000408773"	"11"	"90"	"18"	"59774054"	"59774054"	"subst"	"0"	"00006"	"PIGN_000065"	"g.59774054G>A"	""	"{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62106821G>A"	""	"pathogenic (recessive)"	""
"0000408774"	"21"	"90"	"18"	"59828494"	"59828494"	"del"	"0"	"00006"	"PIGN_000066"	"g.59828494del"	""	"{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}"	""	"94_94delA"	""	"Germline"	""	""	"0"	""	""	"g.62161261del"	""	"pathogenic (recessive)"	""
"0000438457"	"11"	"50"	"18"	"59810539"	"59810539"	"subst"	"7.41007E-5"	"00081"	"PIGN_000003"	"g.59810539C>T"	""	""	""	""	"Compound heterozygous variant in PIGN. Known splice site mutation (c.963G>A) was inherited from father."	"Germline"	""	""	"0"	""	""	"g.62143306C>T"	""	"VUS"	""
"0000438458"	"21"	"90"	"18"	"59713112"	"59713112"	"subst"	"0"	"00081"	"PIGN_000067"	"g.59713112T>A"	""	""	""	""	"Compound heterozygous. Novel nonsense mutation (c.2773A>T, p.Lys925*) was inherited from mother."	"Germline"	""	""	"0"	""	""	"g.62045879T>A"	""	"pathogenic"	""
"0000446051"	"3"	"90"	"18"	"59813240"	"59813240"	"subst"	"0"	"00081"	"PIGN_000068"	"g.59813240T>G"	""	""	""	""	"Homozygous, Autosomal recessive"	"Germline"	""	""	"0"	""	""	"g.62146007T>G"	""	"pathogenic"	""
"0000446142"	"3"	"99"	"18"	"59813240"	"59813240"	"subst"	"0"	"00081"	"PIGN_000068"	"g.59813240T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.62146007T>G"	""	"pathogenic"	""
"0000565199"	"0"	"30"	"18"	"59712922"	"59712922"	"dup"	"0"	"02326"	"PIGN_000069"	"g.59712922dup"	""	""	""	"PIGN(NM_176787.4):c.*168dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62045689dup"	""	"likely benign"	""
"0000565200"	"0"	"30"	"18"	"59713135"	"59713135"	"subst"	"0.000150386"	"01804"	"PIGN_000070"	"g.59713135G>A"	""	""	""	"PIGN(NM_012327.5):c.2750C>T (p.(Thr917Met)), PIGN(NM_176787.4):c.2750C>T (p.T917M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62045902G>A"	""	"likely benign"	""
"0000565201"	"0"	"30"	"18"	"59713173"	"59713173"	"subst"	"0.00942004"	"01804"	"PIGN_000013"	"g.59713173A>C"	""	""	""	"PIGN(NM_012327.5):c.2712T>G (p.(Phe904Leu)), PIGN(NM_176787.4):c.2712T>G (p.F904L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62045940A>C"	""	"likely benign"	""
"0000565204"	"0"	"30"	"18"	"59739975"	"59739975"	"dup"	"0"	"01804"	"PIGN_000016"	"g.59739975dup"	""	""	""	"PIGN(NM_012327.5):c.2620-5dup (p.?), PIGN(NM_176787.4):c.2620-5dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62072742dup"	""	"likely benign"	""
"0000565207"	"0"	"30"	"18"	"59768363"	"59768363"	"subst"	"0.000681883"	"02326"	"PIGN_000073"	"g.59768363T>C"	""	""	""	"PIGN(NM_176787.4):c.2022A>G (p.L674=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62101130T>C"	""	"likely benign"	""
"0000565208"	"0"	"50"	"18"	"59774081"	"59774081"	"subst"	"2.52042E-5"	"02325"	"PIGN_000074"	"g.59774081C>T"	""	""	""	"PIGN(NM_176787.5):c.1708G>A (p.A570T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62106848C>T"	""	"VUS"	""
"0000565209"	"0"	"70"	"18"	"59780367"	"59780367"	"subst"	"0"	"02326"	"PIGN_000032"	"g.59780367C>T"	""	""	""	"PIGN(NM_012327.5):c.1434G>A (p.(=)), PIGN(NM_176787.4):c.1434G>A (p.K478=), PIGN(NM_176787.5):c.1434G>A (p.K478=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62113134C>T"	""	"likely pathogenic"	""
"0000565210"	"0"	"70"	"18"	"59780367"	"59780367"	"subst"	"0"	"02329"	"PIGN_000032"	"g.59780367C>T"	""	""	""	"PIGN(NM_012327.5):c.1434G>A (p.(=)), PIGN(NM_176787.4):c.1434G>A (p.K478=), PIGN(NM_176787.5):c.1434G>A (p.K478=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62113134C>T"	""	"likely pathogenic"	""
"0000565212"	"0"	"30"	"18"	"59780468"	"59780468"	"subst"	"8.1594E-6"	"01804"	"PIGN_000076"	"g.59780468C>A"	""	""	""	"PIGN(NM_012327.5):c.1333G>T (p.(Val445Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62113235C>A"	""	"likely benign"	""
"0000565213"	"0"	"50"	"18"	"59814255"	"59814255"	"subst"	"0"	"01943"	"PIGN_000077"	"g.59814255C>T"	""	""	""	"PIGN(NM_176787.4):c.754G>A (p.D252N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62147022C>T"	""	"VUS"	""
"0000565214"	"0"	"50"	"18"	"59815507"	"59815507"	"subst"	"0"	"01943"	"PIGN_000078"	"g.59815507A>G"	""	""	""	"PIGN(NM_176787.4):c.614T>C (p.V205A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62148274A>G"	""	"VUS"	""
"0000565215"	"0"	"50"	"18"	"59824440"	"59824440"	"subst"	"0.000724686"	"01943"	"PIGN_000043"	"g.59824440C>G"	""	""	""	"PIGN(NM_176787.4):c.364G>C (p.E122Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62157207C>G"	""	"VUS"	""
"0000565216"	"0"	"30"	"18"	"59824440"	"59824440"	"subst"	"0.000724686"	"02326"	"PIGN_000043"	"g.59824440C>G"	""	""	""	"PIGN(NM_176787.4):c.364G>C (p.E122Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62157207C>G"	""	"likely benign"	""
"0000565217"	"0"	"10"	"18"	"59828420"	"59828420"	"subst"	"0.0124642"	"02326"	"PIGN_000046"	"g.59828420G>A"	""	""	""	"PIGN(NM_012327.5):c.167C>T (p.(Ala56Val)), PIGN(NM_176787.4):c.167C>T (p.A56V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62161187G>A"	""	"benign"	""
"0000565219"	"0"	"50"	"18"	"59828466"	"59828466"	"subst"	"0"	"01804"	"PIGN_000080"	"g.59828466G>A"	""	""	""	"PIGN(NM_012327.5):c.121C>T (p.(Pro41Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62161233G>A"	""	"VUS"	""
"0000565221"	"0"	"50"	"18"	"59855048"	"59855048"	"subst"	"0"	"01943"	"KIAA1468_000003"	"g.59855048G>A"	""	""	""	"KIAA1468(NM_020854.3):c.310G>A (p.D104N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62187815G>A"	""	"VUS"	""
"0000617227"	"0"	"30"	"18"	"59768352"	"59768352"	"subst"	"0"	"01804"	"PIGN_000081"	"g.59768352T>G"	""	""	""	"PIGN(NM_012327.5):c.2033A>C (p.(Gln678Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62101119T>G"	""	"likely benign"	""
"0000629262"	"21"	"90"	"18"	"59810570"	"59810570"	"subst"	"3.03794E-5"	"00006"	"PIGN_000050"	"g.59810570A>C"	"1/113 cases"	"{PMID:Pronicka 2016:27290639}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62143337A>C"	""	"pathogenic"	""
"0000629331"	"11"	"90"	"18"	"59814219"	"59814219"	"subst"	"0"	"00006"	"PIGN_000058"	"g.59814219C>T"	"1/113 cases"	"{PMID:Pronicka 2016:27290639}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62146986C>T"	""	"pathogenic"	""
"0000649852"	"1"	"50"	"18"	"59824440"	"59824440"	"subst"	"0.000724686"	"03575"	"PIGN_000043"	"g.59824440C>G"	"4/2789 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs200756305}"	"Germline"	""	"rs200756305"	"0"	""	""	"g.62157207C>G"	""	"VUS"	""
"0000649853"	"1"	"10"	"18"	"59828420"	"59828420"	"subst"	"0.0124642"	"03575"	"PIGN_000046"	"g.59828420G>A"	"24/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"24 heterozygous, no homozygous; {DB:CLININrs61755362}"	"Germline"	""	"rs61755362"	"0"	""	""	"g.62161187G>A"	""	"benign"	""
"0000681191"	"0"	"30"	"18"	"59763160"	"59763160"	"subst"	"0.000171212"	"01943"	"PIGN_000082"	"g.59763160G>A"	""	""	""	"PIGN(NM_176787.4):c.2101C>T (p.L701=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692621"	"0"	"10"	"18"	"59739975"	"59739975"	"del"	"0"	"01943"	"PIGN_000014"	"g.59739975del"	""	""	""	"PIGN(NM_176787.4):c.2620-5delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000698161"	"1"	"90"	"18"	"59780540"	"59780540"	"subst"	"0"	"00006"	"PIGN_000085"	"g.59780540A>G"	""	"{PMID:Zhu 2015:25590979}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62113307A>G"	""	"pathogenic (recessive)"	""
"0000698226"	"2"	"90"	"18"	"59814335"	"59814335"	"subst"	"0"	"00006"	"PIGN_000084"	"g.59814335C>G"	""	"{PMID:Zhu 2015:25590979}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62147102C>G"	""	"pathogenic (recessive)"	""
"0000726978"	"0"	"30"	"18"	"59713161"	"59713161"	"subst"	"4.47806E-5"	"02326"	"PIGN_000086"	"g.59713161G>A"	""	""	""	"PIGN(NM_176787.4):c.2724C>T (p.L908=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726979"	"0"	"50"	"18"	"59713206"	"59713206"	"subst"	"0.000131544"	"02325"	"PIGN_000087"	"g.59713206G>C"	""	""	""	"PIGN(NM_176787.5):c.2679C>G (p.S893R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726980"	"0"	"50"	"18"	"59763080"	"59763080"	"subst"	"0"	"01943"	"PIGN_000088"	"g.59763080C>A"	""	""	""	"PIGN(NM_176787.4):c.2180+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726981"	"0"	"30"	"18"	"59774070"	"59774070"	"subst"	"0"	"01943"	"PIGN_000089"	"g.59774070A>G"	""	""	""	"PIGN(NM_176787.4):c.1719T>C (p.T573=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726982"	"0"	"50"	"18"	"59821796"	"59821796"	"subst"	"0"	"02325"	"PIGN_000090"	"g.59821796C>G"	""	""	""	"PIGN(NM_176787.5):c.531G>C (p.W177C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000787351"	"1"	"50"	"18"	"59824934"	"59824934"	"subst"	"2.8999E-5"	"00006"	"PIGN_000092"	"g.59824934C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	"rs746450459"	"0"	""	""	"g.62157701C>T"	""	"VUS"	""
"0000787603"	"2"	"50"	"18"	"59752497"	"59752497"	"subst"	"0"	"00000"	"PIGN_000091"	"g.59752497C>T"	""	"0"	""	""	""	"Germline"	""	"rs1204147408"	"0"	""	""	"g.62085264C>T"	""	"VUS"	""
"0000808555"	"0"	"50"	"18"	"59774095"	"59774095"	"subst"	"9.72483E-5"	"02327"	"PIGN_000093"	"g.59774095C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808556"	"0"	"30"	"18"	"59774122"	"59774122"	"subst"	"1.76361E-5"	"01943"	"PIGN_000094"	"g.59774122T>C"	""	""	""	"PIGN(NM_176787.4):c.1675-8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808557"	"0"	"30"	"18"	"59777225"	"59777225"	"subst"	"1.22546E-5"	"02326"	"PIGN_000095"	"g.59777225C>T"	""	""	""	"PIGN(NM_176787.4):c.1435-19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000815750"	"3"	"50"	"18"	"59824953"	"59824953"	"subst"	"0"	"01164"	"PIGN_000096"	"g.59824953C>T"	""	""	""	""	"ACMG PM2_SUP, PM3_SUP, PP3"	"Germline"	"?"	""	""	""	""	""	""	"VUS"	"ACMG"
"0000837053"	"21"	"50"	"18"	"59774095"	"59774095"	"subst"	"1.69127E-5"	"02494"	"PIGN_000097"	"g.59774095C>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	""	""	"VUS"	""
"0000837054"	"11"	"50"	"18"	"59713206"	"59713206"	"subst"	"0.000131544"	"02494"	"PIGN_000087"	"g.59713206G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	""	""	"VUS"	""
"0000855344"	"0"	"70"	"18"	"59780362"	"59780362"	"subst"	"1.79131E-5"	"02327"	"PIGN_000008"	"g.59780362C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000855345"	"0"	"50"	"18"	"59814273"	"59814273"	"subst"	"4.5006E-5"	"01943"	"PIGN_000099"	"g.59814273T>A"	""	""	""	"PIGN(NM_176787.4):c.736A>T (p.N246Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000855346"	"0"	"70"	"18"	"59815520"	"59815523"	"del"	"0"	"01943"	"PIGN_000100"	"g.59815520_59815523del"	""	""	""	"PIGN(NM_176787.4):c.600_603delTGAA (p.N200Kfs*4)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000855347"	"0"	"30"	"18"	"59824378"	"59824378"	"subst"	"1.2347E-5"	"01943"	"PIGN_000101"	"g.59824378C>G"	""	""	""	"PIGN(NM_176787.4):c.426G>C (p.L142=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000855348"	"0"	"70"	"18"	"59828455"	"59828457"	"del"	"0"	"02327"	"PIGN_000102"	"g.59828455_59828457del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000865739"	"0"	"50"	"18"	"59713135"	"59713135"	"subst"	"0.000150386"	"01943"	"PIGN_000070"	"g.59713135G>A"	""	""	""	"PIGN(NM_012327.5):c.2750C>T (p.(Thr917Met)), PIGN(NM_176787.4):c.2750C>T (p.T917M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865740"	"0"	"30"	"18"	"59751818"	"59751818"	"subst"	"9.56743E-5"	"01943"	"PIGN_000098"	"g.59751818A>G"	""	""	""	"PIGN(NM_176787.4):c.2448T>C (p.Y816=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894619"	"0"	"90"	"18"	"59824979"	"59824979"	"subst"	"0"	"02327"	"PIGN_000060"	"g.59824979C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000908867"	"3"	"70"	"18"	"59810585"	"59810585"	"subst"	"0"	"00006"	"PIGN_000103"	"g.59810585A>C"	""	"{PMID:Bournazos 2022:34906502}"	""	""	"exon skipping, cryptic splice acceptor"	"Germline"	""	""	"0"	""	""	"g.62143352A>C"	""	"pathogenic (recessive)"	""
"0000918572"	"0"	"70"	"18"	"59713119"	"59713120"	"del"	"0"	"01602"	"PIGN_000104"	"g.59713119_59713120del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.62045886_62045887del"	""	"likely pathogenic"	""
"0000969456"	"0"	"30"	"18"	"59739974"	"59739975"	"del"	"0"	"02329"	"PIGN_000105"	"g.59739974_59739975del"	""	""	""	"PIGN(NM_176787.5):c.2620-6_2620-5delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000983099"	"0"	"50"	"18"	"59830760"	"59830760"	"subst"	"0"	"01804"	"PIGN_000107"	"g.59830760T>G"	""	""	""	"PIGN(NM_176787.5):c.-110+4A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000988710"	"21"	"70"	"18"	"59774218"	"59774218"	"subst"	"3.65032E-5"	"03544"	"PIGN_000006"	"g.59774218C>G"	""	""	""	""	""	"Germline"	"yes"	"rs376355678"	"0"	""	""	"g.62106985C>G"	"{CV:264640 }"	"pathogenic"	"ACMG"
"0000988711"	"11"	"50"	"18"	"59807672"	"59807672"	"subst"	"0"	"03544"	"PIGN_000108"	"g.59807672G>A"	""	""	""	""	""	"Germline"	"yes"	"rs753868318"	"0"	""	""	"g.62140439G>A"	"{CV:472204}"	"VUS"	"ACMG"
"0001004229"	"0"	"30"	"18"	"59752456"	"59752456"	"subst"	"0.000152342"	"01804"	"PIGN_000109"	"g.59752456T>C"	""	""	""	"PIGN(NM_176787.4):c.2412A>G (p.(Ile804Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001004230"	"0"	"30"	"18"	"59752457"	"59752457"	"subst"	"0.000152207"	"01804"	"PIGN_000110"	"g.59752457A>T"	""	""	""	"PIGN(NM_176787.4):c.2411T>A (p.(Ile804Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001004231"	"0"	"50"	"18"	"59807708"	"59807708"	"subst"	"0"	"01804"	"PIGN_000111"	"g.59807708T>A"	""	""	""	"PIGN(NM_176787.4):c.968A>T (p.(Asp323Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001004232"	"0"	"50"	"18"	"59828417"	"59828417"	"subst"	"9.34906E-5"	"01804"	"PIGN_000112"	"g.59828417T>C"	""	""	""	"PIGN(NM_176787.4):c.170A>G (p.(Asp57Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001004233"	"0"	"50"	"18"	"59828511"	"59828511"	"subst"	"4.06693E-6"	"01804"	"PIGN_000113"	"g.59828511A>T"	""	""	""	"PIGN(NM_176787.4):c.76T>A (p.(Ser26Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001027140"	"0"	"70"	"18"	"59828450"	"59828450"	"subst"	"0"	"02327"	"PIGN_000114"	"g.59828450A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001042500"	"0"	"90"	"18"	"59777152"	"59777152"	"dup"	"0"	"01804"	"PIGN_000115"	"g.59777152dup"	""	""	""	"PIGN(NM_176787.5):c.1494dup (p.(Leu499Serfs*58))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001042501"	"0"	"30"	"18"	"59814338"	"59814338"	"subst"	"4.27928E-6"	"01804"	"PIGN_000116"	"g.59814338T>C"	""	""	""	"PIGN(NM_176787.5):c.675-4A>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 PIGN
## Count = 142
"{{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}}"
"0000036297"	"00023987"	"90"	"2126"	"0"	"2126"	"0"	"c.2126G>A"	"r.(?)"	"p.(Arg709Gln)"	"22"
"0000047718"	"00023987"	"90"	"808"	"0"	"808"	"0"	"c.808T>C"	"r.(?)"	"p.(Ser270Pro)"	"9"
"0000047719"	"00023987"	"90"	"963"	"0"	"963"	"0"	"c.963G>A"	"r.[923_963del, 963_964ins963+1_963+53]"	"p.[Glu308Glyfs*2,Ala322Valfs*24]"	"10"
"0000047721"	"00023987"	"90"	"1574"	"1"	"1574"	"1"	"c.1574+1G>A"	"r.1435_1574del"	"p.Lys479Ilefs*31"	"16i"
"0000079672"	"00023987"	"00"	"-8388608"	"0"	"8388607"	"0"	"c.-18161339_*11350425del"	"r.0?"	"p.0?"	""
"0000094923"	"00023987"	"70"	"1966"	"0"	"1966"	"0"	"c.1966C>T"	"r.0?"	"p.(Gln656*)"	"21"
"0000094924"	"00023987"	"90"	"1674"	"1"	"1674"	"1"	"c.1674+1G>C"	"r.spl"	"p.?"	"18"
"0000094925"	"00023987"	"70"	"694"	"0"	"694"	"0"	"c.694A>T"	"r.0?"	"p.(Lys232*)"	"9"
"0000240211"	"00023987"	"70"	"1434"	"5"	"1434"	"5"	"c.1434+5G>A"	"r.spl?"	"p.?"	""
"0000244166"	"00023987"	"90"	"996"	"0"	"996"	"0"	"c.996T>G"	"r.(?)"	"p.(Ile332Met)"	""
"0000251047"	"00023987"	"10"	"1377"	"0"	"1377"	"0"	"c.1377T>C"	"r.(?)"	"p.(Ser459=)"	""
"0000251077"	"00023987"	"10"	"2712"	"0"	"2712"	"0"	"c.2712T>G"	"r.(?)"	"p.(Phe904Leu)"	""
"0000251629"	"00023987"	"30"	"2620"	"-5"	"2620"	"-5"	"c.2620-5del"	"r.spl?"	"p.?"	""
"0000251630"	"00023987"	"10"	"2503"	"-14"	"2503"	"-14"	"c.2503-14T>C"	"r.(=)"	"p.(=)"	""
"0000252310"	"00023987"	"30"	"2620"	"-270"	"2620"	"-270"	"c.2620-270T>A"	"r.(=)"	"p.(=)"	""
"0000252311"	"00023987"	"30"	"2576"	"134"	"2576"	"134"	"c.2576+134T>C"	"r.(=)"	"p.(=)"	""
"0000252312"	"00023987"	"30"	"2077"	"63"	"2077"	"63"	"c.2077+63T>G"	"r.(=)"	"p.(=)"	""
"0000256113"	"00023987"	"50"	"2237"	"0"	"2237"	"0"	"c.2237T>G"	"r.(?)"	"p.(Ile746Arg)"	""
"0000296952"	"00023987"	"10"	"1117"	"-1"	"1117"	"-1"	"c.1117-1A>G"	"r.spl?"	"p.?"	""
"0000296953"	"00023987"	"30"	"2620"	"-6"	"2620"	"-5"	"c.2620-6_2620-5dup"	"r.spl?"	"p.?"	""
"0000296954"	"00023987"	"30"	"2783"	"0"	"2783"	"0"	"c.2783G>A"	"r.(?)"	"p.(Ser928Asn)"	""
"0000296955"	"00023987"	"10"	"484"	"0"	"484"	"0"	"c.484A>G"	"r.(?)"	"p.(Lys162Glu)"	""
"0000296956"	"00023987"	"10"	"685"	"0"	"685"	"0"	"c.685C>G"	"r.(?)"	"p.(His229Asp)"	""
"0000296957"	"00023987"	"10"	"741"	"0"	"741"	"0"	"c.741C>T"	"r.(?)"	"p.(His247=)"	""
"0000298859"	"00023987"	"70"	"2354"	"0"	"2354"	"0"	"c.2354G>A"	"r.(?)"	"p.(Arg785His)"	""
"0000298860"	"00023987"	"50"	"2413"	"0"	"2413"	"0"	"c.2413G>A"	"r.(?)"	"p.(Ala805Thr)"	""
"0000298861"	"00023987"	"90"	"674"	"1"	"674"	"1"	"c.674+1G>A"	"r.spl?"	"p.?"	""
"0000300761"	"00023987"	"30"	"2974"	"0"	"2974"	"0"	"c.*178dup"	"r.(?)"	"p.(=)"	""
"0000300763"	"00023987"	"30"	"1117"	"-1"	"1117"	"-1"	"c.1117-1A>G"	"r.spl?"	"p.?"	""
"0000300764"	"00023987"	"10"	"1408"	"0"	"1408"	"0"	"c.1408A>T"	"r.(?)"	"p.(Ile470Leu)"	""
"0000300765"	"00023987"	"10"	"1752"	"0"	"1752"	"0"	"c.1752G>A"	"r.(?)"	"p.(Leu584=)"	""
"0000300766"	"00023987"	"90"	"2126"	"0"	"2126"	"0"	"c.2126G>A"	"r.(?)"	"p.(Arg709Gln)"	""
"0000300767"	"00023987"	"30"	"213"	"0"	"213"	"0"	"c.213G>A"	"r.(?)"	"p.(Pro71=)"	""
"0000300768"	"00023987"	"30"	"2238"	"0"	"2238"	"0"	"c.2238A>G"	"r.(?)"	"p.(Ile746Met)"	""
"0000300769"	"00023987"	"30"	"2283"	"13"	"2283"	"13"	"c.2283+13del"	"r.(=)"	"p.(=)"	""
"0000300770"	"00023987"	"30"	"2619"	"114"	"2619"	"114"	"c.2619+114G>A"	"r.(=)"	"p.(=)"	""
"0000300771"	"00023987"	"10"	"2619"	"14"	"2619"	"14"	"c.2619+14G>A"	"r.(=)"	"p.(=)"	""
"0000300774"	"00023987"	"30"	"2620"	"-5"	"2620"	"-5"	"c.2620-5dup"	"r.spl?"	"p.?"	""
"0000300775"	"00023987"	"30"	"528"	"0"	"528"	"0"	"c.528G>A"	"r.(?)"	"p.(Thr176=)"	""
"0000300776"	"00023987"	"10"	"685"	"0"	"685"	"0"	"c.685C>G"	"r.(?)"	"p.(His229Asp)"	""
"0000300777"	"00023987"	"10"	"741"	"0"	"741"	"0"	"c.741C>T"	"r.(?)"	"p.(His247=)"	""
"0000300778"	"00023987"	"30"	"805"	"119"	"805"	"119"	"c.805+119A>G"	"r.(=)"	"p.(=)"	""
"0000305605"	"00023987"	"50"	"2354"	"0"	"2354"	"0"	"c.2354G>A"	"r.(?)"	"p.(Arg785His)"	""
"0000325934"	"00023987"	"50"	"1434"	"0"	"1434"	"0"	"c.1434G>A"	"r.(?)"	"p.(Lys478=)"	""
"0000325937"	"00023987"	"30"	"253"	"0"	"253"	"0"	"c.253A>G"	"r.(?)"	"p.(Ile85Val)"	""
"0000325938"	"00023987"	"30"	"167"	"0"	"167"	"0"	"c.167C>T"	"r.(?)"	"p.(Ala56Val)"	""
"0000325939"	"00023987"	"30"	"-1045"	"0"	"-1045"	"0"	"c.-1045C>T"	"r.(?)"	"p.(=)"	""
"0000347101"	"00023987"	"70"	"932"	"0"	"932"	"0"	"c.932T>G"	"r.(?)"	"p.(Leu311Trp)"	""
"0000347270"	"00023987"	"50"	"1985"	"0"	"1985"	"0"	"c.1985T>C"	"r.(?)"	"p.(Leu662Pro)"	""
"0000347357"	"00023987"	"90"	"548"	"0"	"549"	"6"	"c.548_549+6del"	"r.spl?"	"p.?"	""
"0000349201"	"00023987"	"70"	"2671"	"0"	"2671"	"0"	"c.2671A>G"	"r.(?)"	"p.(Ser891Gly)"	""
"0000357738"	"00023987"	"70"	"406"	"0"	"406"	"0"	"c.406T>G"	"r.(?)"	"p.(Trp136Gly)"	""
"0000357739"	"00023987"	"70"	"2576"	"0"	"2576"	"0"	"c.2576G>C"	"r.(?)"	"p.(Ser859Thr)"	""
"0000357740"	"00023987"	"70"	"2340"	"0"	"2340"	"0"	"c.2340T>A"	"r.(?)"	"p.(Tyr780*)"	""
"0000357741"	"00023987"	"70"	"1434"	"5"	"1434"	"5"	"c.1434+5G>A"	"r.spl?"	"p.?"	""
"0000357742"	"00023987"	"70"	"2340"	"0"	"2340"	"0"	"c.2340T>A"	"r.(?)"	"p.(Tyr780*)"	""
"0000357743"	"00023987"	"70"	"1434"	"5"	"1434"	"5"	"c.1434+5G>A"	"r.spl?"	"p.?"	""
"0000357744"	"00023987"	"50"	"709"	"0"	"709"	"0"	"c.709G>A"	"r.(?)"	"p.(Gly237Arg)"	""
"0000357745"	"00023987"	"50"	"2411"	"0"	"2412"	"0"	"c.2411_2412delinsAG"	"r.(?)"	"p.(Ile804Lys)"	""
"0000357746"	"00023987"	"70"	"548"	"0"	"549"	"6"	"c.548_549+6del"	"r.spl?"	"p.?"	""
"0000357747"	"00023987"	"70"	"755"	"0"	"755"	"0"	"c.755A>T"	"r.(?)"	"p.(Asp252Val)"	""
"0000357748"	"00023987"	"70"	"790"	"0"	"790"	"0"	"c.790G>A"	"r.(?)"	"p.(Gly264Arg)"	""
"0000357749"	"00023987"	"70"	"932"	"0"	"932"	"0"	"c.932T>G"	"r.(?)"	"p.(Leu311Trp)"	""
"0000357750"	"00023987"	"70"	"181"	"0"	"181"	"0"	"c.181G>T"	"r.(?)"	"p.(Glu61*)"	"4"
"0000357751"	"00023987"	"70"	"284"	"0"	"284"	"0"	"c.284G>A"	"r.(?)"	"p.(Arg95Gln)"	"5"
"0000368181"	"00023987"	"70"	"324"	"0"	"549"	"196"	"c.(221_324)_(549+196_550-1)del"	"r.?"	"p.?"	"5_7i"
"0000368202"	"00023987"	"70"	"329"	"0"	"549"	"1908"	"c.329_549+1908del"	"r.spl?"	"p.?"	""
"0000368203"	"00023987"	"70"	"329"	"0"	"549"	"1908"	"c.329_549+1908del"	"r.spl?"	"p.?"	""
"0000368204"	"00023987"	"70"	"329"	"0"	"549"	"1908"	"c.329_549+1908del"	"r.spl?"	"p.?"	""
"0000368205"	"00023987"	"70"	"329"	"0"	"549"	"1908"	"c.329_549+1908del"	"r.spl?"	"p.?"	""
"0000368207"	"00023987"	"70"	"421"	"0"	"421"	"0"	"c.421dup"	"r.(?)"	"p.(Ile141Asnfs*10)"	""
"0000368208"	"00023987"	"70"	"421"	"0"	"421"	"0"	"c.421dup"	"r.(?)"	"p.(Ile141Asnfs*10)"	""
"0000368404"	"00023987"	"70"	"932"	"0"	"932"	"0"	"c.932T>G"	"r.(?)"	"p.(Leu311Trp)"	""
"0000368405"	"00023987"	"70"	"694"	"0"	"694"	"0"	"c.694A>T"	"r.(?)"	"p.(Lys232*)"	""
"0000368406"	"00023987"	"70"	"808"	"0"	"808"	"0"	"c.808T>C"	"r.(?)"	"p.(Ser270Pro)"	""
"0000368407"	"00023987"	"70"	"214"	"0"	"1620"	"0"	"c.214_1620del"	"r.(?)"	"p.(Phe72_Pro540del)"	""
"0000408773"	"00023987"	"90"	"1735"	"0"	"1735"	"0"	"c.1735C>T"	"r.(?)"	"p.(Pro579Ser)"	"19"
"0000408774"	"00023987"	"90"	"94"	"0"	"94"	"0"	"c.94del"	"r.(?)"	"p.(Met32*)"	"4"
"0000438457"	"00023987"	"50"	"963"	"0"	"963"	"0"	"c.963G>A"	"r.(=)"	"p.(=)"	""
"0000438458"	"00023987"	"90"	"2773"	"0"	"2773"	"0"	"c.2773A>T"	"r.(?)"	"p.(Lys925*)"	""
"0000446051"	"00023987"	"90"	"824"	"0"	"824"	"0"	"c.824A>C"	"r.(?)"	"p.(His275Pro)"	""
"0000446142"	"00023987"	"99"	"824"	"0"	"824"	"0"	"c.824A>C"	"r.(?)"	"p.(His275Pro)"	""
"0000565199"	"00023987"	"30"	"2964"	"0"	"2964"	"0"	"c.*168dup"	"r.(?)"	"p.(=)"	""
"0000565200"	"00023987"	"30"	"2750"	"0"	"2750"	"0"	"c.2750C>T"	"r.(?)"	"p.(Thr917Met)"	""
"0000565201"	"00023987"	"30"	"2712"	"0"	"2712"	"0"	"c.2712T>G"	"r.(?)"	"p.(Phe904Leu)"	""
"0000565204"	"00023987"	"30"	"2620"	"-5"	"2620"	"-5"	"c.2620-5dup"	"r.spl?"	"p.?"	""
"0000565207"	"00023987"	"30"	"2022"	"0"	"2022"	"0"	"c.2022A>G"	"r.(?)"	"p.(Leu674=)"	""
"0000565208"	"00023987"	"50"	"1708"	"0"	"1708"	"0"	"c.1708G>A"	"r.(?)"	"p.(Ala570Thr)"	""
"0000565209"	"00023987"	"70"	"1434"	"0"	"1434"	"0"	"c.1434G>A"	"r.(?)"	"p.(Lys478=)"	""
"0000565210"	"00023987"	"70"	"1434"	"0"	"1434"	"0"	"c.1434G>A"	"r.(?)"	"p.(Lys478=)"	""
"0000565212"	"00023987"	"30"	"1333"	"0"	"1333"	"0"	"c.1333G>T"	"r.(?)"	"p.(Val445Phe)"	""
"0000565213"	"00023987"	"50"	"754"	"0"	"754"	"0"	"c.754G>A"	"r.(?)"	"p.(Asp252Asn)"	""
"0000565214"	"00023987"	"50"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Val205Ala)"	""
"0000565215"	"00023987"	"50"	"364"	"0"	"364"	"0"	"c.364G>C"	"r.(?)"	"p.(Glu122Gln)"	""
"0000565216"	"00023987"	"30"	"364"	"0"	"364"	"0"	"c.364G>C"	"r.(?)"	"p.(Glu122Gln)"	""
"0000565217"	"00023987"	"10"	"167"	"0"	"167"	"0"	"c.167C>T"	"r.(?)"	"p.(Ala56Val)"	""
"0000565219"	"00023987"	"50"	"121"	"0"	"121"	"0"	"c.121C>T"	"r.(?)"	"p.(Pro41Ser)"	""
"0000565221"	"00023987"	"50"	"-1207"	"0"	"-1207"	"0"	"c.-1207C>T"	"r.(?)"	"p.(=)"	""
"0000617227"	"00023987"	"30"	"2033"	"0"	"2033"	"0"	"c.2033A>C"	"r.(?)"	"p.(Gln678Pro)"	""
"0000629262"	"00023987"	"90"	"932"	"0"	"932"	"0"	"c.932T>G"	"r.(?)"	"p.(Leu311Trp)"	""
"0000629331"	"00023987"	"90"	"790"	"0"	"790"	"0"	"c.790G>A"	"r.(?)"	"p.(Gly264Arg)"	""
"0000649852"	"00023987"	"50"	"364"	"0"	"364"	"0"	"c.364G>C"	"r.(?)"	"p.(Glu122Gln)"	""
"0000649853"	"00023987"	"10"	"167"	"0"	"167"	"0"	"c.167C>T"	"r.(?)"	"p.(Ala56Val)"	""
"0000681191"	"00023987"	"30"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Leu701=)"	""
"0000692621"	"00023987"	"10"	"2620"	"-5"	"2620"	"-5"	"c.2620-5del"	"r.spl?"	"p.?"	""
"0000698161"	"00023987"	"90"	"1261"	"0"	"1261"	"0"	"c.1261T>C"	"r.(?)"	"p.(Cys421Arg)"	""
"0000698226"	"00023987"	"90"	"675"	"-1"	"675"	"-1"	"c.675-1G>C"	"r.spl"	"p.?"	""
"0000726978"	"00023987"	"30"	"2724"	"0"	"2724"	"0"	"c.2724C>T"	"r.(?)"	"p.(Leu908=)"	""
"0000726979"	"00023987"	"50"	"2679"	"0"	"2679"	"0"	"c.2679C>G"	"r.(?)"	"p.(Ser893Arg)"	""
"0000726980"	"00023987"	"50"	"2180"	"1"	"2180"	"1"	"c.2180+1G>T"	"r.spl?"	"p.?"	""
"0000726981"	"00023987"	"30"	"1719"	"0"	"1719"	"0"	"c.1719T>C"	"r.(?)"	"p.(Thr573=)"	""
"0000726982"	"00023987"	"50"	"531"	"0"	"531"	"0"	"c.531G>C"	"r.(?)"	"p.(Trp177Cys)"	""
"0000787351"	"00023987"	"50"	"329"	"0"	"329"	"0"	"c.329G>A"	"r.(?)"	"p.(Ser110Asn)"	"5"
"0000787603"	"00023987"	"50"	"2371"	"0"	"2371"	"0"	"c.2371G>A"	"r.(?)"	"p.(Val791Ile)"	"26"
"0000808555"	"00023987"	"50"	"1694"	"0"	"1694"	"0"	"c.1694G>A"	"r.(?)"	"p.(Arg565His)"	""
"0000808556"	"00023987"	"30"	"1675"	"-8"	"1675"	"-8"	"c.1675-8A>G"	"r.(=)"	"p.(=)"	""
"0000808557"	"00023987"	"30"	"1435"	"-19"	"1435"	"-19"	"c.1435-19G>A"	"r.(=)"	"p.(=)"	""
"0000815750"	"00023987"	"50"	"310"	"0"	"310"	"0"	"c.310G>A"	"r.(?)"	"p.(Gly104Arg)"	""
"0000837053"	"00023987"	"50"	"1694"	"0"	"1694"	"0"	"c.1694G>T"	"r.(?)"	"p.(Arg565Leu)"	""
"0000837054"	"00023987"	"50"	"2679"	"0"	"2679"	"0"	"c.2679C>G"	"r.(?)"	"p.(Ser893Arg)"	""
"0000855344"	"00023987"	"70"	"1434"	"5"	"1434"	"5"	"c.1434+5G>A"	"r.spl?"	"p.?"	""
"0000855345"	"00023987"	"50"	"736"	"0"	"736"	"0"	"c.736A>T"	"r.(?)"	"p.(Asn246Tyr)"	""
"0000855346"	"00023987"	"70"	"600"	"0"	"603"	"0"	"c.600_603del"	"r.(?)"	"p.(Asn200Lysfs*4)"	""
"0000855347"	"00023987"	"30"	"426"	"0"	"426"	"0"	"c.426G>C"	"r.(?)"	"p.(Leu142=)"	""
"0000855348"	"00023987"	"70"	"133"	"0"	"135"	"0"	"c.133_135del"	"r.(?)"	"p.(Arg45del)"	""
"0000865739"	"00023987"	"50"	"2750"	"0"	"2750"	"0"	"c.2750C>T"	"r.(?)"	"p.(Thr917Met)"	""
"0000865740"	"00023987"	"30"	"2448"	"0"	"2448"	"0"	"c.2448T>C"	"r.(?)"	"p.(Tyr816=)"	""
"0000894619"	"00023987"	"90"	"284"	"0"	"284"	"0"	"c.284G>A"	"r.(?)"	"p.(Arg95Gln)"	""
"0000908867"	"00023987"	"70"	"923"	"-6"	"923"	"-6"	"c.923-6T>G"	"r.[923_963del,923_1023del,922_923ins[923-26_923-7;uuucag]]"	"p.[Glu308Glyfs*2,Glu308Glyfs*9,Glu308Aspfs*19]"	""
"0000918572"	"00023987"	"70"	"2766"	"0"	"2767"	"0"	"c.2766_2767del"	"r.(?)"	"p.(Cys923Trpfs*21)"	""
"0000969456"	"00023987"	"30"	"2620"	"-6"	"2620"	"-5"	"c.2620-6_2620-5del"	"r.spl?"	"p.?"	""
"0000983099"	"00023987"	"50"	"-110"	"4"	"-110"	"4"	"c.-110+4A>C"	"r.spl?"	"p.?"	""
"0000988710"	"00023987"	"70"	"1674"	"1"	"1674"	"1"	"c.1674+1G>C"	"r.spl"	"p.?"	""
"0000988711"	"00023987"	"50"	"1004"	"0"	"1004"	"0"	"c.1004C>T"	"r.(?)"	"p.(Pro335Leu)"	"12"
"0001004229"	"00023987"	"30"	"2412"	"0"	"2412"	"0"	"c.2412A>G"	"r.(?)"	"p.(Ile804Met)"	""
"0001004230"	"00023987"	"30"	"2411"	"0"	"2411"	"0"	"c.2411T>A"	"r.(?)"	"p.(Ile804Lys)"	""
"0001004231"	"00023987"	"50"	"968"	"0"	"968"	"0"	"c.968A>T"	"r.(?)"	"p.(Asp323Val)"	""
"0001004232"	"00023987"	"50"	"170"	"0"	"170"	"0"	"c.170A>G"	"r.(?)"	"p.(Asp57Gly)"	""
"0001004233"	"00023987"	"50"	"76"	"0"	"76"	"0"	"c.76T>A"	"r.(?)"	"p.(Ser26Thr)"	""
"0001027140"	"00023987"	"70"	"137"	"0"	"137"	"0"	"c.137T>G"	"r.(?)"	"p.(Leu46*)"	""
"0001042500"	"00023987"	"90"	"1494"	"0"	"1494"	"0"	"c.1494dup"	"r.(?)"	"p.(Leu499Serfs*58)"	""
"0001042501"	"00023987"	"30"	"675"	"-4"	"675"	"-4"	"c.675-4A>G"	"r.spl?"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 56
"{{screeningid}}"	"{{variantid}}"
"0000016478"	"0000036297"
"0000024937"	"0000047721"
"0000024938"	"0000047718"
"0000024938"	"0000047719"
"0000050483"	"0000079672"
"0000063967"	"0000094923"
"0000063967"	"0000094924"
"0000063968"	"0000094925"
"0000147414"	"0000240211"
"0000151009"	"0000244166"
"0000155901"	"0000357738"
"0000155901"	"0000357739"
"0000155902"	"0000357740"
"0000155902"	"0000357741"
"0000155903"	"0000357742"
"0000155903"	"0000357743"
"0000155904"	"0000357744"
"0000155904"	"0000357745"
"0000155905"	"0000357746"
"0000155905"	"0000368181"
"0000155906"	"0000357747"
"0000155907"	"0000357748"
"0000155907"	"0000357749"
"0000155908"	"0000357750"
"0000155908"	"0000357751"
"0000164629"	"0000368202"
"0000164630"	"0000368203"
"0000164631"	"0000368204"
"0000164632"	"0000368205"
"0000164634"	"0000368207"
"0000164635"	"0000368208"
"0000164794"	"0000368404"
"0000164794"	"0000368405"
"0000164795"	"0000368406"
"0000164795"	"0000368407"
"0000184650"	"0000408773"
"0000184650"	"0000408774"
"0000208574"	"0000438457"
"0000208574"	"0000438458"
"0000214128"	"0000446051"
"0000214207"	"0000446142"
"0000275298"	"0000629262"
"0000275298"	"0000629331"
"0000293163"	"0000649852"
"0000293164"	"0000649853"
"0000316035"	"0000698161"
"0000316035"	"0000698226"
"0000376000"	"0000787351"
"0000376000"	"0000787603"
"0000387619"	"0000815750"
"0000402816"	"0000837053"
"0000402816"	"0000837054"
"0000429394"	"0000908867"
"0000432954"	"0000918572"
"0000453931"	"0000988710"
"0000453931"	"0000988711"