### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KANSL1)
# 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}}"
"KANSL1"	"KAT8 regulatory NSL complex subunit 1"	"17"	"q21.31"	"unknown"	"NG_032784.1"	"UD_139421159568"	""	"https://www.LOVD.nl/KANSL1"	""	"1"	"24565"	"284058"	"612452"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/KANSL1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00006"	"2012-05-31 00:00:00"	"00006"	"2017-08-18 10:09:59"	"00000"	"2023-07-07 10:10:56"


## 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}}"
"00024084"	"KANSL1"	"transcript variant 1"	"007"	"NM_001193466.1"	""	"NP_001180395.1"	""	""	""	"-471"	"4878"	"3318"	"46192800"	"46029916"	"00006"	"2015-12-09 10:20:15"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"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"	"2016-10-22 17:54:40"
"01006"	"KDVS"	"Koolen-De Vries syndrome (KDVS, 17q21.31 deletion syndrome)"	"AD"	"610443"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"KANSL1"	"00139"
"KANSL1"	"01006"


## Individuals ## Do not remove or alter this header ##
## Count = 57
"{{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}}"
"00054912"	""	""	""	"6"	""	"00006"	"{DOI:O\'Rawe 2015:10.1016/j.ajhg.2015.11.005}"	"4-generation family, 6 affected, 5 unaffected heterozygous carrier females"	"M"	""	"Albania"	">16y"	"0"	""	""	""	""
"00101205"	""	""	""	"5"	""	"00006"	"{PMID:O\'Rawe 2016:26637982}, {DOI:O\'Rawe 2016:10.1016/j.ajhg.2015.11.005}"	"2-generation family, 5 affected males, unaffected heterozygous carrier mothers"	"M"	"no"	"Albania"	""	"0"	""	""	""	"26637982-Fam10PatA"
"00117294"	""	""	""	"1"	""	"00778"	"{PMID:Zollino 2012:22544367}"	""	"F"	""	"Italy"	""	"0"	""	""	""	""
"00117295"	""	""	""	"1"	""	"00778"	"{PMID:Zollino 2012:22544367}"	""	"F"	""	"Italy"	""	"0"	""	""	""	""
"00117296"	""	""	""	"1"	""	"00778"	"{PMID:Koolen 2012:22544363}, {PMID:Koolen 2016:26306646}"	""	"M"	""	""	""	"0"	""	""	"white"	"Pat3, Pat#34"
"00117297"	""	""	""	"1"	""	"00778"	"{PMID:Koolen 2012:22544363}, {PMID:Koolen 2016:26306646}"	""	"M"	""	""	""	"0"	""	""	""	"Pat4, Pat#43"
"00117298"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	"M"	""	""	""	"0"	""	""	""	""
"00117299"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	"F"	""	""	""	"0"	""	""	""	""
"00117300"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	"mother of patient (22544363-Ind3), unaffected"	"F"	""	""	""	"0"	""	""	"white"	""
"00117301"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117302"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117303"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117304"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117305"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117306"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117307"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117308"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117309"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117310"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117311"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117312"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117313"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117314"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117315"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117316"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117317"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117318"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117319"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117320"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117321"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117322"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117323"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117324"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117325"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117326"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117327"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117328"	""	""	""	"1"	""	"00006"	"{PMID:Koolen 2012:22544363}"	""	""	""	""	""	"0"	""	""	""	""
"00117329"	""	""	""	"1"	""	"01336"	"{PMID:Koolen 2016:26306646}"	""	"M"	"no"	""	""	"0"	""	""	""	"Pat#35"
"00117330"	""	""	""	"1"	""	"01336"	"{PMID:Koolen 2016:26306646}"	""	"M"	"no"	""	""	"0"	""	""	""	"Pat#36"
"00117331"	""	""	""	"1"	""	"01336"	"{PMID:Koolen 2016:26306646}"	""	"F"	"no"	""	""	"0"	""	""	""	"Pat#37"
"00117332"	""	""	""	"1"	""	"02223"	"{PMID:Koolen 2016:26306646}"	""	"F"	"no"	"Australia"	""	"0"	""	""	""	"Pat#38"
"00117333"	""	""	""	"1"	""	"01336"	"{PMID:Koolen 2016:26306646}"	""	"F"	"no"	""	""	"0"	""	""	""	"Pat#39"
"00117334"	""	""	""	"1"	""	"01336"	"{PMID:Koolen 2016:26306646}"	""	"F"	"no"	"Australia"	""	"0"	""	""	""	"Pat#40"
"00117335"	""	""	""	"1"	""	"01336"	"{PMID:Koolen 2016:26306646}"	""	"F"	"no"	""	""	"0"	""	""	""	"Pat#41"
"00117336"	""	""	""	"1"	""	"02223"	"{PMID:Koolen 2016:26306646}"	""	"M"	"no"	"Australia"	""	"0"	""	""	""	"Pat#42"
"00117337"	""	""	""	"1"	""	"01336"	"{PMID:Koolen 2016:26306646}"	""	"M"	"no"	""	""	"0"	""	""	""	"Pat#44"
"00117338"	""	""	""	"1"	""	"01336"	"{PMID:Koolen 2016:26306646}"	""	"F"	"no"	""	""	"0"	""	""	""	"Pat#45"
"00291766"	""	""	""	"5"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291767"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00296560"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00306301"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00307376"	""	""	""	"1"	""	"03760"	""	""	"M"	""	"Netherlands"	""	""	""	""	""	"kdvs_119"
"00307400"	""	""	""	"1"	""	"03760"	"{PMID:Keen 2017:28211987}, {DOI:Keen 2017:10.1002/ajmg.a.38080}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"United States"	""	"0"	""	""	"Irish;English/Irish;German"	"patient"
"00307401"	""	""	""	"1"	""	"03760"	"{PMID:Dingemans 2021:33603161}, {DOI:Dingemans 2021:10.1038/s41431-021-00824-x}"	""	"F"	""	""	""	"0"	""	""	""	"Pat1"
"00307402"	""	""	""	"1"	""	"03760"	"{PMID:Dingemans 2021:33603161}, {DOI:Dingemans 2021:10.1038/s41431-021-00824-x}"	""	"M"	"yes"	""	""	"0"	""	""	""	"Pat2"
"00307403"	""	""	""	"1"	""	"03760"	"{PMID:Dingemans 2021:33603161}, {DOI:Dingemans 2021:10.1038/s41431-021-00824-x}"	""	"M"	""	""	""	"0"	""	""	""	"Pat3"
"00380792"	""	""	""	"1"	""	"00000"	"{PMID:Nair 2018:30293248}"	""	"?"	""	"Lebanon"	""	"0"	""	""	""	"?"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 57
"{{individualid}}"	"{{diseaseid}}"
"00054912"	"00139"
"00101205"	"00139"
"00117294"	"01006"
"00117295"	"01006"
"00117296"	"01006"
"00117297"	"01006"
"00117298"	"01006"
"00117299"	"01006"
"00117300"	"00000"
"00117301"	"00000"
"00117302"	"00000"
"00117303"	"00000"
"00117304"	"00000"
"00117305"	"00000"
"00117306"	"00000"
"00117307"	"00000"
"00117308"	"00000"
"00117309"	"00000"
"00117310"	"00000"
"00117311"	"00000"
"00117312"	"00000"
"00117313"	"00000"
"00117314"	"00000"
"00117315"	"00000"
"00117316"	"00000"
"00117317"	"00000"
"00117318"	"00000"
"00117319"	"00000"
"00117320"	"00000"
"00117321"	"00000"
"00117322"	"00000"
"00117323"	"00000"
"00117324"	"00000"
"00117325"	"00000"
"00117326"	"00000"
"00117327"	"00000"
"00117328"	"00000"
"00117329"	"01006"
"00117330"	"01006"
"00117331"	"01006"
"00117332"	"01006"
"00117333"	"01006"
"00117334"	"01006"
"00117335"	"01006"
"00117336"	"01006"
"00117337"	"01006"
"00117338"	"01006"
"00291766"	"00198"
"00291767"	"00198"
"00296560"	"00198"
"00306301"	"00198"
"00307376"	"01006"
"00307400"	"01006"
"00307401"	"01006"
"00307402"	"01006"
"00307403"	"01006"
"00380792"	"01006"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01006
## Count = 25
"{{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}}"
"0000041579"	"00139"	"00054912"	"00006"	"Isolated (sporadic)"	"16y"	"delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); sagging cheeks; long face (HP:0000276); high arched palate (high palate HP:0000218); thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); bulbous nasal tip (bulbous nose HP:0000414); strabismus (HP:0000486); myopia (HP:0000545); mild ventriculomegaly (HP:0002119); cerebellar  atrophy; hypoplasia of the cerebellar vermis (HP:0001320); low deep tendon reflexes (reduced tendon reflexes) HP:0001315); gait abnormalities (gait disturbance HP:0001288); balance problem (gait imbalance HP:0002141); diplegia (spastic diplegia HP:0001264); autistic behaviors (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); anxiety (HP:0000739); intellectual disability (HP:0001249); N/A; brain: periventricular white matter gliosis; not present -HP:0000463, -HP:0000252, -HP:0000308, -HP:0000316, -HP:0000343, -HP:0000369, -HP:0000411, -HP:0000470, -HP:0000639, -HP:0000664, -HP:0000767, -HP:0001007, -HP:0001057, -HP:0001250, -HP:0001257, -HP:0001290, -HP:0001337, -HP:0001382, -HP:0001511, -HP:0002650, -HP:0002808, -HP:0004696, -HP:0007375, -HP:0007483, -HP:0008070, -HP:0009748, -HP:0011220, -HP:0011927; full term, weight 2850 (<10th)"	""	""	""	""	""	""	""	""	""	""	""
"0000079443"	"00139"	"00101205"	"00006"	"Familial, X-linked recessive"	""	"see paper; ..., prominent supraorbital ridges, down-slanted palpebral fissures, sagging cheeks, long face, high palate, pointed chin"	""	""	""	""	""	""	""	""	""	""	""
"0000092541"	"01006"	"00117294"	"00778"	"Isolated (sporadic)"	"3y"	"Intrauterine growth retardation; hypotonia; failure to thrive in infancy; abnormal hair texture; broad forehead; sparse eyebrows; upslanting palpebral fissures; epicanthal folds; pear-shaped nose; large nasal bridge; bulbous nasal tip; long philtrum; everted lower lip; large and/or prominent ears; broad chin; motor delay; mild intellectual disability; happy, friendly disposition; joint hyperextensibility; recurrent otitis"	""	""	""	""	""	""	""	""	""	""	""
"0000092542"	"01006"	"00117295"	"00778"	"Isolated (sporadic)"	"14y"	"Hypotonia; failure to thrive in infancy; abnormal hair texture; broad forehead; sparse eyebrows; long face; upslanting palpebral fissures; epicanthal folds; pear-shaped nose; large nasal bridge; bulbous nasal tip; long philtrum; large and/or prominent ears; broad chin; motor delay; moderate intellectual disability; happy, friendly disposition; dislocation of the hip; scoliosis; joint hyperextensibility; laryngospasm"	""	""	""	""	""	""	""	""	""	""	""
"0000092543"	"01006"	"00117296"	"00778"	"Isolated (sporadic)"	"2y11m"	"microdeletion syndrome, chromosome 17q21.31; intrauterine growth retardation; birth weight 2,500 g (5th centile); feeding difficulties, stridor, and failure to thrive in infancy; hypotonia; global developmental delay; independent walking and first words at two years of age; impaired fine motor skills; no seizures or stereotypical movements; short stature; fair hair; upslanting palpebral fissures; epicanthic folds; telecanthus; broad nasal base; smooth philtrum; thin vermillion border; small teeth; short webbed neck; blind ending sacral dimple; pes planus; prominence of the lateral ventricles secondary to lack of white matter volume, and some heterotopic nodules in the right frontal horn at brain MRI."	""	""	""	""	""	""	""	""	""	""	""
"0000092544"	"01006"	"00117297"	"00778"	"Isolated (sporadic)"	"13y"	"bilateral cleft lip and palate; micrognathia; ventricular septal defect (VSD) spontaneously resolved; cryptorchidism; sacral dimple; neonatal hypotonia, inspiratory stridor and feeding difficulties; developmental delay, with independent walking at 26 months, and first words at 18 months; expressive language disorder; moderate cognitive impairment (IQ 35); friendly personality; normal brain MRI; frequent acute otitis media; mild hypermetropia; strabismus divergens; long face; micrognathia; hypertelorism; strabismus; everted ears; short upslanting palpebral fissures; high nasal bridge; broad pear-shaped nose; long philtrum; open mouth appearance; unilateral simian crease; scoliosis; pes planus; mild hypotonia; gait instability"	""	""	""	""	""	""	""	""	""	""	""
"0000092545"	"01006"	"00117298"	"00006"	"Isolated (sporadic)"	""	"microdeletion syndrome, chromosome 17q21.31"	""	""	""	""	""	""	""	""	""	""	""
"0000092546"	"01006"	"00117299"	"00006"	"Isolated (sporadic)"	""	"microdeletion syndrome, chromosome 17q21.31"	""	""	""	""	""	""	""	""	""	""	""
"0000092547"	"01006"	"00117329"	"01336"	"Isolated (sporadic)"	"3y4m"	"Koolen-de Vries syndrome see paper …"	""	""	""	""	""	""	""	""	""	""	""
"0000092548"	"01006"	"00117330"	"01336"	"Isolated (sporadic)"	"5y7m"	"Koolen-de Vries syndrome see paper …"	""	""	""	""	""	""	""	""	""	""	""
"0000092549"	"01006"	"00117331"	"01336"	"Isolated (sporadic)"	"6y"	"Koolen-de Vries syndrome see paper …"	""	""	""	""	""	""	""	""	""	""	""
"0000092550"	"01006"	"00117332"	"02223"	"Isolated (sporadic)"	"06y02m"	"Koolen-de Vries syndrome see paper …"	""	""	""	""	""	""	""	""	""	""	""
"0000092551"	"01006"	"00117333"	"01336"	"Isolated (sporadic)"	"7y"	"Koolen-de Vries syndrome see paper …"	""	""	""	""	""	""	""	""	""	""	""
"0000092552"	"01006"	"00117334"	"01336"	"Isolated (sporadic)"	"8y11m"	"Koolen-de Vries syndrome see paper …"	""	""	""	""	""	""	""	""	""	""	""
"0000092553"	"01006"	"00117335"	"01336"	"Isolated (sporadic)"	"10y10m"	"Koolen-de Vries syndrome see paper …"	""	""	""	""	""	""	""	""	""	""	""
"0000092554"	"01006"	"00117336"	"02223"	"Isolated (sporadic)"	"13y"	"Koolen-de Vries syndrome see paper …"	""	""	""	""	""	""	""	""	""	""	""
"0000092555"	"01006"	"00117337"	"01336"	"Isolated (sporadic)"	"20y3m"	"Koolen-de Vries syndrome see paper …"	""	""	""	""	""	""	""	""	""	""	""
"0000092556"	"01006"	"00117338"	"01336"	"Isolated (sporadic)"	"46y"	"Koolen-de Vries syndrome see paper …"	""	""	""	""	""	""	""	""	""	""	""
"0000223966"	"00198"	"00296560"	"01164"	"Unknown"	""	"Abnormality of movement (HP:0100022); Intellectual disability (HP:0001249); Motor delay (HP:0001270); Microcephaly (HP:0000252); Inability to walk (HP:0002540); Difficulty standing (HP:0003698); Poor fine motor coordination (HP:0007010)"	""	""	""	""	""	""	""	""	""	""	""
"0000232141"	"00198"	"00306301"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Short stature (HP:0004322); Feeding difficulties (HP:0011968); Seizure (HP:0001250); Gray matter heterotopia (HP:0002282)"	""	""	""	""	""	""	""	""	""	""	""
"0000233136"	"01006"	"00307401"	"03760"	"Isolated (sporadic)"	""	"Caesarian section; hypotonia; poor sucking; epilepsy; TIA; developmental delay; facial hypotonia; broad nasal tip; prominent nasal bridge; microdontia; clinodactyly of the fifth finger on both hands; hypotonia of the lower limbs; hypermobility and endorotation of her feet."	""	""	""	""	""	""	""	""	""	""	""
"0000233137"	"01006"	"00307402"	"03760"	"Isolated (sporadic)"	"05y"	"caesarian section; hypotonia; hypoxia; bradycardia; epilepsy; developmental delay; patent ductus arteriousus; scapula alata; pes planus; protruding ears; thin upper lip; upslanted palpebral fissures ; low hanging columella nasi; hypoplastic alae nasi and a wide mouth; cerebellar hypoplasia; friendly nature; cryptorchidism"	""	""	""	""	""	""	""	""	""	""	""
"0000233138"	"01006"	"00307403"	"03760"	"Unknown"	"05y"	"plagiocephaly; developmental delay; hypotonia; torticollis; constipation; epilepsy; happy disposition"	""	""	""	""	""	""	""	""	""	""	""
"0000233231"	"01006"	"00307400"	"03760"	"Isolated (sporadic)"	"10y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000274645"	"01006"	"00380792"	"00000"	"Familial"	""	"DD; ID; muscular hypotonia; ptosis; short stature; hyperlaxity (Multiple systems)"	""	""	""	""	""	""	""	""	"Koolen-De Vries syndrome"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 57
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000054865"	"00054912"	"1"	"00006"	"00006"	"2015-12-07 12:50:28"	"00006"	"2015-12-09 10:16:40"	"arraySNP"	"DNA"	""	""
"0000101628"	"00101205"	"1"	"00006"	"00006"	"2017-03-19 15:37:56"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000117762"	"00117294"	"1"	"00778"	"00002"	"2012-05-31 14:37:29"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000117763"	"00117295"	"1"	"00778"	"00002"	"2012-05-31 14:37:29"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000117764"	"00117296"	"1"	"00778"	"00778"	"2013-01-14 16:51:12"	"00006"	"2013-01-20 15:48:19"	"SEQ"	"DNA"	""	""
"0000117765"	"00117297"	"1"	"00778"	"00778"	"2013-01-14 20:03:00"	""	""	"SEQ"	"DNA"	""	""
"0000117766"	"00117298"	"1"	"00006"	"00006"	"2013-01-20 16:18:42"	""	""	"arraySNP;MLPA"	"DNA"	""	""
"0000117767"	"00117299"	"1"	"00006"	"00006"	"2013-01-20 16:18:42"	""	""	"arraySNP;MLPA"	"DNA"	""	""
"0000117768"	"00117300"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117769"	"00117301"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117770"	"00117302"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117771"	"00117303"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117772"	"00117304"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117773"	"00117305"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117774"	"00117306"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117775"	"00117307"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117776"	"00117308"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117777"	"00117309"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117778"	"00117310"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117779"	"00117311"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117780"	"00117312"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117781"	"00117313"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117782"	"00117314"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117783"	"00117315"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117784"	"00117316"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117785"	"00117317"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117786"	"00117318"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117787"	"00117319"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117788"	"00117320"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117789"	"00117321"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117790"	"00117322"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117791"	"00117323"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117792"	"00117324"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117793"	"00117325"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117794"	"00117326"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117795"	"00117327"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117796"	"00117328"	"1"	"00006"	"00006"	"2013-01-20 17:07:53"	""	""	"SEQ"	"DNA"	""	""
"0000117797"	"00117329"	"1"	"01336"	"00006"	"2015-06-19 10:57:59"	"00006"	"2015-06-19 11:53:00"	"SEQ"	"DNA"	""	""
"0000117798"	"00117330"	"1"	"01336"	"00006"	"2015-06-19 11:00:32"	"00006"	"2015-06-19 11:53:48"	"SEQ"	"DNA"	""	""
"0000117799"	"00117331"	"1"	"01336"	"00006"	"2015-06-19 11:03:23"	"00006"	"2015-06-19 11:54:46"	"SEQ"	"DNA"	""	""
"0000117800"	"00117332"	"1"	"02223"	"00006"	"2015-06-19 11:05:23"	"00006"	"2017-08-25 10:32:42"	"SEQ"	"DNA"	""	""
"0000117801"	"00117333"	"1"	"01336"	"00006"	"2015-06-19 11:07:12"	"00006"	"2015-06-19 11:55:44"	"SEQ"	"DNA"	""	""
"0000117802"	"00117334"	"1"	"01336"	"00006"	"2015-06-19 11:09:36"	"00006"	"2015-06-19 11:56:13"	"SEQ"	"DNA"	""	""
"0000117803"	"00117335"	"1"	"01336"	"00006"	"2015-06-19 11:11:31"	"00006"	"2015-06-19 11:56:45"	"SEQ"	"DNA"	""	""
"0000117804"	"00117336"	"1"	"02223"	"00006"	"2015-06-19 11:13:17"	"00006"	"2017-08-25 10:30:36"	"SEQ"	"DNA"	""	""
"0000117805"	"00117337"	"1"	"01336"	"00006"	"2015-06-19 11:14:52"	"00006"	"2015-06-19 11:58:03"	"SEQ"	"DNA"	""	""
"0000117806"	"00117338"	"1"	"01336"	"00006"	"2015-06-19 11:16:43"	"00006"	"2015-06-19 11:58:30"	"SEQ"	"DNA"	""	""
"0000292934"	"00291766"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292935"	"00291767"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297670"	"00296560"	"1"	"01164"	"01164"	"2020-04-08 14:08:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000307437"	"00306301"	"1"	"01807"	"01807"	"2020-07-14 13:40:01"	""	""	"SEQ"	"DNA"	""	""
"0000308518"	"00307376"	"1"	"03760"	"03760"	"2020-08-12 11:43:42"	""	""	"SEQ-NG"	"DNA"	""	"ID panel"
"0000308539"	"00307400"	"1"	"03760"	"03760"	"2020-08-12 16:16:23"	""	""	"SEQ-NG"	"DNA"	""	"ID panel"
"0000308540"	"00307401"	"1"	"03760"	"03760"	"2020-08-12 16:21:55"	""	""	"SEQ-NG"	"DNA"	""	"ID panel"
"0000308541"	"00307402"	"1"	"03760"	"03760"	"2020-08-12 16:26:21"	""	""	"SEQ-NG"	"DNA"	""	"ID panel"
"0000308542"	"00307403"	"1"	"03760"	"03760"	"2020-08-12 16:29:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000382006"	"00380792"	"1"	"00000"	"03840"	"2021-08-23 12:15:23"	""	""	"SEQ-NG-I"	"DNA"	""	"whole exome sequencing"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 50
"{{screeningid}}"	"{{geneid}}"
"0000054865"	"KANSL1"
"0000054865"	"TAF1"
"0000101628"	"TAF1"
"0000117762"	"KANSL1"
"0000117763"	"KANSL1"
"0000117764"	"KANSL1"
"0000117765"	"KANSL1"
"0000117766"	"KANSL1"
"0000117767"	"KANSL1"
"0000117768"	"KANSL1"
"0000117769"	"KANSL1"
"0000117770"	"KANSL1"
"0000117771"	"KANSL1"
"0000117772"	"KANSL1"
"0000117773"	"KANSL1"
"0000117774"	"KANSL1"
"0000117775"	"KANSL1"
"0000117776"	"KANSL1"
"0000117777"	"KANSL1"
"0000117778"	"KANSL1"
"0000117779"	"KANSL1"
"0000117780"	"KANSL1"
"0000117781"	"KANSL1"
"0000117782"	"KANSL1"
"0000117783"	"KANSL1"
"0000117784"	"KANSL1"
"0000117785"	"KANSL1"
"0000117786"	"KANSL1"
"0000117787"	"KANSL1"
"0000117788"	"KANSL1"
"0000117789"	"KANSL1"
"0000117790"	"KANSL1"
"0000117791"	"KANSL1"
"0000117792"	"KANSL1"
"0000117793"	"KANSL1"
"0000117794"	"KANSL1"
"0000117795"	"KANSL1"
"0000117796"	"KANSL1"
"0000117797"	"KANSL1"
"0000117798"	"KANSL1"
"0000117799"	"KANSL1"
"0000117800"	"KANSL1"
"0000117801"	"KANSL1"
"0000117802"	"KANSL1"
"0000117803"	"KANSL1"
"0000117804"	"KANSL1"
"0000117805"	"KANSL1"
"0000117806"	"KANSL1"
"0000308541"	"A2ML1"
"0000308542"	"A2ML1"


## 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 = 121
"{{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}}"
"0000086462"	"0"	"90"	"17"	"44108841"	"44249509"	""	"0"	"00006"	"KANSL1_000000"	"g.(?_44108841)_(44249509_?)del"	""	"{DOI:O\'Rawe 2015:10.1016/j.ajhg.2015.11.005}"	""	""	"0.63 Mb deletion 17q21.31 incl. KANSL1; association with phenotype uncertain"	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000164212"	"0"	"90"	"17"	"44159803"	"44787924"	""	"0"	"00006"	"KANSL1_000000"	"g.(?_44159803)_(44787924_?)del"	""	"{PMID:O\'Rawe 2016:26637982}, {DOI:O\'Rawe 2016:10.1016/j.ajhg.2015.11.005}"	""	""	"deletion includes containing KANSL1, LRRC37A, ARL17B, and NSFP1 genes"	"De novo"	"-"	""	"0"	""	"arr 17q21.31(44,159,803-44,787,924)x1"	""	""	"pathogenic"	""
"0000188775"	"0"	"57"	"17"	"44143935"	"44143935"	"subst"	"0"	"00778"	"KANSL1_000001"	"g.44143935G>A"	""	"{PMID:Zollino 2012:22544367}"	"TaqI-"	""	"not in 800 control chromosomes"	"De novo"	"no"	""	"0"	""	""	"g.46066569G>A"	""	"VUS"	""
"0000188776"	"0"	"57"	"17"	"44110500"	"44110501"	"del"	"0"	"00778"	"KANSL1_000002"	"g.44110500_44110501del"	""	"{PMID:Zollino 2012:22544367}"	""	""	"not in 800 control chromosomes"	"De novo"	"no"	""	"0"	""	""	"g.46033134_46033135del"	""	"VUS"	""
"0000188777"	"21"	"10"	"17"	"44248353"	"44248353"	"subst"	"0.0000609216"	"00778"	"KANSL1_000007"	"g.44248353C>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.46170987C>A"	""	"benign"	""
"0000188778"	"0"	"99"	"17"	"44248594"	"44248594"	"subst"	"0"	"00778"	"KANSL1_000003"	"g.44248594G>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.46171228G>A"	""	"pathogenic"	""
"0000188779"	"0"	"99"	"17"	"44144914"	"44144914"	"subst"	"0"	"00778"	"KANSL1_000004"	"g.44144914C>T"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.46067548C>T"	""	"pathogenic"	""
"0000188780"	"0"	"95"	"17"	"0"	"0"	""	"0"	"00006"	"KANSL1_000005"	"g.?"	""	"{PMID:Koolen 2012:22544363}"	""	""	"deletion exons 14-15 MAPT and 4-15 KANSL1"	"De novo"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000188781"	"0"	"95"	"17"	"0"	"0"	""	"0"	"00006"	"KANSL1_000006"	"g.?"	""	"{PMID:Koolen 2012:22544363}"	""	""	"deletion exons 3-15 MAPT and 9-15 KANSL1"	"De novo"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000188782"	"1"	"10"	"17"	"44248353"	"44248353"	"subst"	"0.0000609216"	"00006"	"KANSL1_000007"	"g.44248353C>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.46170987C>A"	""	"benign"	""
"0000188783"	"0"	"10"	"17"	"44301112"	"44301112"	"subst"	"0"	"00006"	"KANSL1_000008"	"g.44301112T>A"	""	"{PMID:Koolen 2012:22544363}"	""	"NM_001193465.1:c.-165A>T"	""	"Germline"	""	"rs402970"	"0"	""	""	"g.46223746T>A"	""	"benign"	""
"0000188784"	"0"	"10"	"17"	"44249621"	"44249621"	"subst"	"0"	"00006"	"KANSL1_000009"	"g.44249621A>G"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs2696662"	"0"	""	""	"g.46172255A>G"	""	"benign"	""
"0000188785"	"0"	"10"	"17"	"44249199"	"44249199"	"subst"	"0.117862"	"00006"	"KANSL1_000010"	"g.44249199T>G"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs17585974"	"0"	""	""	"g.46171833T>G"	""	"benign"	""
"0000188786"	"0"	"10"	"17"	"44249096"	"44249096"	"subst"	"0.12018"	"00006"	"KANSL1_000011"	"g.44249096A>C"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs17662889"	"0"	""	""	"g.46171730A>C"	""	"benign"	""
"0000188787"	"0"	"10"	"17"	"44248875"	"44248875"	"subst"	"0.000365717"	"00006"	"KANSL1_000012"	"g.44248875T>C"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46171509T>C"	""	"benign"	""
"0000188788"	"0"	"10"	"17"	"44248848"	"44248848"	"subst"	"0.118069"	"00006"	"KANSL1_000013"	"g.44248848G>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs17662853"	"0"	""	""	"g.46171482G>A"	""	"benign"	""
"0000188789"	"0"	"10"	"17"	"44248837"	"44248837"	"subst"	"0.113339"	"00006"	"KANSL1_000014"	"g.44248837T>C"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs35643216"	"0"	""	""	"g.46171471T>C"	""	"benign"	""
"0000188790"	"0"	"10"	"17"	"44248814"	"44248814"	"subst"	"0.145838"	"00006"	"KANSL1_000015"	"g.44248814G>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs1881194"	"0"	""	""	"g.46171448G>A"	""	"benign"	""
"0000188791"	"0"	"10"	"17"	"44248769"	"44248769"	"subst"	"0.146165"	"00006"	"KANSL1_000016"	"g.44248769T>C"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs1881193"	"0"	""	""	"g.46171403T>C"	""	"benign"	""
"0000188792"	"0"	"10"	"17"	"44248499"	"44248499"	"subst"	"0.217839"	"00006"	"KANSL1_000017"	"g.44248499G>C"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs2240758"	"0"	""	""	"g.46171133G>C"	""	"benign"	""
"0000188793"	"0"	"10"	"17"	"44248353"	"44248353"	"subst"	"0.0000609216"	"00006"	"KANSL1_000007"	"g.44248353C>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46170987C>A"	""	"benign"	""
"0000188794"	"0"	"10"	"17"	"44159988"	"44159988"	"subst"	"0"	"00006"	"KANSL1_000018"	"g.44159988G>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs117188088"	"0"	""	""	"g.46082622G>A"	""	"benign"	""
"0000188795"	"0"	"10"	"17"	"44159849"	"44159849"	"subst"	"0.144163"	"00006"	"KANSL1_000019"	"g.44159849T>C"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs112628831"	"0"	""	""	"g.46082483T>C"	""	"benign"	""
"0000188796"	"0"	"10"	"17"	"44144152"	"44144152"	"subst"	"0"	"00006"	"KANSL1_000020"	"g.44144152T>C"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs62060798"	"0"	""	""	"g.46066786T>C"	""	"benign"	""
"0000188797"	"0"	"10"	"17"	"44128125"	"44128125"	"subst"	"0"	"00006"	"KANSL1_000021"	"g.44128125A>C"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs12150447"	"0"	""	""	"g.46050759A>C"	""	"benign"	""
"0000188798"	"0"	"10"	"17"	"44117135"	"44117135"	"subst"	"0.0981627"	"00006"	"KANSL1_000022"	"g.44117135C>T"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs2277613"	"0"	""	""	"g.46039769C>T"	""	"benign"	""
"0000188799"	"0"	"10"	"17"	"44117119"	"44117119"	"subst"	"0.145047"	"00006"	"KANSL1_000023"	"g.44117119A>G"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs117312607"	"0"	""	""	"g.46039753A>G"	""	"benign"	""
"0000188800"	"0"	"10"	"17"	"44116993"	"44116993"	"subst"	"0"	"00006"	"KANSL1_000024"	"g.44116993C>T"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46039627C>T"	""	"benign"	""
"0000188801"	"0"	"10"	"17"	"44116312"	"44116312"	"subst"	"0"	"00006"	"KANSL1_000025"	"g.44116312T>C"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs62062136"	"0"	""	""	"g.46038946T>C"	""	"benign"	""
"0000188802"	"0"	"10"	"17"	"44115886"	"44115886"	"subst"	"0.144287"	"00006"	"KANSL1_000026"	"g.44115886C>T"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs12150090"	"0"	""	""	"g.46038520C>T"	""	"benign"	""
"0000188803"	"0"	"10"	"17"	"44111616"	"44111616"	"subst"	"0"	"00006"	"KANSL1_000027"	"g.44111616A>G"	""	"{PMID:Koolen 2012:22544363}"	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	"rs17574604"	"0"	""	""	"g.46034250A>G"	""	"benign"	""
"0000188804"	"0"	"10"	"17"	"44111591"	"44111591"	"subst"	"0"	"00006"	"KANSL1_000028"	"g.44111591A>T"	""	"{PMID:Koolen 2012:22544363}"	""	""	"Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message."	"Germline"	""	"rs77009866"	"0"	""	""	"g.46034225A>T"	""	"benign"	""
"0000188805"	"0"	"10"	"17"	"44110544"	"44110544"	"subst"	"0"	"00006"	"KANSL1_000029"	"g.44110544G>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs35833914"	"0"	""	""	"g.46033178G>A"	""	"benign"	""
"0000188806"	"0"	"10"	"17"	"44110535"	"44110535"	"subst"	"0"	"00006"	"KANSL1_000030"	"g.44110535G>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs36076725"	"0"	""	""	"g.46033169G>A"	""	"benign"	""
"0000188807"	"0"	"10"	"17"	"44110507"	"44110507"	"subst"	"0"	"00006"	"KANSL1_000031"	"g.44110507T>C"	""	"{PMID:Koolen 2012:22544363}"	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.46033141T>C"	""	"benign"	""
"0000188808"	"0"	"10"	"17"	"44109557"	"44109557"	"subst"	"0"	"00006"	"KANSL1_000032"	"g.44109557G>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.46032191G>A"	""	"benign"	""
"0000188809"	"0"	"10"	"17"	"44109477"	"44109477"	"subst"	"0"	"00006"	"KANSL1_000033"	"g.44109477G>A"	""	"{PMID:Koolen 2012:22544363}"	""	""	""	"Germline"	""	"rs7220988"	"0"	""	""	"g.46032111G>A"	""	"benign"	""
"0000188810"	"0"	"10"	"17"	"44108909"	"44108909"	"subst"	"0"	"00006"	"KANSL1_000034"	"g.44108909A>G"	""	"{PMID:Koolen 2012:22544363}"	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	"rs34579536"	"0"	""	""	"g.46031543A>G"	""	"benign"	""
"0000188811"	"0"	"90"	"17"	"44144914"	"44144914"	"subst"	"0"	"01336"	"KANSL1_000004"	"g.44144914C>T"	""	"{PMID:Koolen 2016:26306646}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.46067548C>T"	""	"pathogenic"	""
"0000188812"	"0"	"90"	"17"	"44248525"	"44248526"	"del"	"0"	"01336"	"KANSL1_000035"	"g.44248525_44248526del"	""	"{PMID:Koolen 2016:26306646}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.46171159_46171160del"	""	"pathogenic"	""
"0000188813"	"0"	"90"	"17"	"44128049"	"44128052"	"del"	"0"	"01336"	"KANSL1_000036"	"g.44128049_44128052del"	""	"{PMID:Koolen 2016:26306646}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46050683_46050686del"	""	"pathogenic"	""
"0000188814"	"0"	"90"	"17"	"44248972"	"44248981"	"del"	"0"	"02223"	"KANSL1_000037"	"g.44248972_44248981del"	""	"{PMID:Koolen 2016:26306646}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.46171606_46171615del"	""	"pathogenic"	""
"0000188815"	"0"	"90"	"17"	"44110559"	"44110559"	"subst"	"0"	"01336"	"KANSL1_000038"	"g.44110559C>G"	""	"{PMID:Koolen 2016:26306646}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.46033193C>G"	""	"pathogenic"	""
"0000188816"	"0"	"90"	"17"	"44144923"	"44144930"	"del"	"0"	"01336"	"KANSL1_000039"	"g.44144923_44144930del"	""	"{PMID:Koolen 2016:26306646}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46067557_46067564del"	""	"pathogenic"	""
"0000188817"	"0"	"90"	"17"	"44248942"	"44248942"	"del"	"0"	"01336"	"KANSL1_000040"	"g.44248942del"	""	"{PMID:Koolen 2016:26306646}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.46171576del"	""	"pathogenic"	""
"0000188818"	"0"	"90"	"17"	"44110792"	"44110795"	"dup"	"0"	"02223"	"KANSL1_000041"	"g.44110792_44110795dup"	""	"{PMID:Koolen 2016:26306646}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.46033426_46033429dup"	""	"pathogenic"	""
"0000188819"	"0"	"90"	"17"	"44109035"	"44109035"	"del"	"0"	"01336"	"KANSL1_000042"	"g.44109035del"	""	"{PMID:Koolen 2016:26306646}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.46031669del"	""	"pathogenic"	""
"0000188820"	"0"	"90"	"17"	"44248601"	"44248602"	"del"	"0"	"01336"	"KANSL1_000043"	"g.44248601_44248602del"	""	"{PMID:Koolen 2016:26306646}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46171235_46171236del"	""	"pathogenic"	""
"0000251978"	"0"	"30"	"17"	"44115951"	"44115951"	"subst"	"0"	"02326"	"KANSL1_000047"	"g.44115951A>G"	""	""	""	"KANSL1(NM_001193466.2):c.2494T>C (p.S832P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46038585A>G"	""	"likely benign"	""
"0000281692"	"0"	"10"	"17"	"44248499"	"44248499"	"subst"	"0.217839"	"02325"	"KANSL1_000017"	"g.44248499G>C"	""	""	""	"KANSL1(NM_001193466.2):c.1011C>G (p.S337=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46171133G>C"	""	"benign"	""
"0000281693"	"0"	"50"	"17"	"44248353"	"44248353"	"subst"	"0.0000609216"	"02325"	"KANSL1_000007"	"g.44248353C>A"	""	""	""	"KANSL1(NM_001193466.2):c.1157G>T (p.S386I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46170987C>A"	""	"VUS"	""
"0000281694"	"0"	"10"	"17"	"44144993"	"44144993"	"subst"	"0.999736"	"02325"	"KANSL1_000049"	"g.44144993C>G"	""	""	""	"KANSL1(NM_001193466.2):c.1574G>C (p.R525P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46067627="	""	"benign"	""
"0000281695"	"0"	"10"	"17"	"44109474"	"44109474"	"subst"	"0.376738"	"02325"	"KANSL1_000044"	"g.44109474G>A"	""	""	""	"KANSL1(NM_001193466.2):c.3029C>T (p.P1010L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46032108G>A"	""	"benign"	""
"0000281696"	"0"	"10"	"17"	"44248848"	"44248848"	"subst"	"0.118069"	"02325"	"KANSL1_000013"	"g.44248848G>A"	""	""	""	"KANSL1(NM_001193466.2):c.662C>T (p.T221I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46171482G>A"	""	"benign"	""
"0000325476"	"0"	"50"	"17"	"44249479"	"44249479"	"subst"	"0.0000247412"	"01804"	"KANSL1_000052"	"g.44249479C>T"	""	""	""	"KANSL1(NM_001193465.1):c.31G>A (p.(Ala11Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46172113C>T"	""	"VUS"	""
"0000338109"	"0"	"90"	"17"	"44144101"	"44144101"	"subst"	"0"	"02327"	"KANSL1_000062"	"g.44144101A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46066735A>C"	""	"pathogenic"	""
"0000340088"	"0"	"10"	"17"	"44110532"	"44110532"	"subst"	"0.14267"	"02327"	"KANSL1_000056"	"g.44110532G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46033166G>A"	""	"benign"	""
"0000340089"	"0"	"10"	"17"	"44110541"	"44110541"	"subst"	"0.142333"	"02327"	"KANSL1_000057"	"g.44110541G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46033175G>A"	""	"benign"	""
"0000340090"	"0"	"10"	"17"	"44111613"	"44111613"	"subst"	"0.144981"	"02327"	"KANSL1_000059"	"g.44111613A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46034247A>G"	""	"benign"	""
"0000340092"	"0"	"10"	"17"	"44159849"	"44159849"	"subst"	"0.144163"	"02327"	"KANSL1_000019"	"g.44159849T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46082483T>C"	""	"benign"	""
"0000340093"	"0"	"10"	"17"	"44248499"	"44248499"	"subst"	"0.217839"	"02327"	"KANSL1_000017"	"g.44248499G>C"	""	""	""	"KANSL1(NM_001193466.2):c.1011C>G (p.S337=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46171133G>C"	""	"benign"	""
"0000340094"	"0"	"10"	"17"	"44248769"	"44248769"	"subst"	"0.146165"	"02327"	"KANSL1_000016"	"g.44248769T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46171403T>C"	""	"benign"	""
"0000340095"	"0"	"10"	"17"	"44248814"	"44248814"	"subst"	"0.145838"	"02327"	"KANSL1_000015"	"g.44248814G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46171448G>A"	""	"benign"	""
"0000340096"	"0"	"10"	"17"	"44249096"	"44249096"	"subst"	"0.12018"	"02327"	"KANSL1_000011"	"g.44249096A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46171730A>C"	""	"benign"	""
"0000343120"	"0"	"90"	"17"	"44144025"	"44144025"	"subst"	"0"	"02327"	"KANSL1_000061"	"g.44144025G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46066659G>A"	""	"pathogenic"	""
"0000343659"	"0"	"10"	"17"	"44248837"	"44248837"	"subst"	"0.113339"	"02327"	"KANSL1_000014"	"g.44248837T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46171471T>C"	""	"benign"	""
"0000344205"	"0"	"30"	"17"	"44110543"	"44110543"	"subst"	"0"	"02327"	"KANSL1_000058"	"g.44110543C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46033177C>T"	""	"likely benign"	""
"0000344693"	"0"	"10"	"17"	"44248783"	"44248783"	"subst"	"0.00183341"	"02327"	"KANSL1_000067"	"g.44248783G>T"	""	""	""	"KANSL1(NM_001193466.1):c.727C>A (p.Q243K), KANSL1(NM_001193466.2):c.727C>A (p.Q243K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46171417G>T"	""	"benign"	""
"0000346045"	"0"	"30"	"17"	"44248350"	"44248350"	"subst"	"0"	"02327"	"KANSL1_000064"	"g.44248350C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46170984C>T"	""	"likely benign"	""
"0000346553"	"0"	"10"	"17"	"44108906"	"44108906"	"subst"	"0.144302"	"02327"	"KANSL1_000053"	"g.44108906A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46031540A>G"	""	"benign"	""
"0000347363"	"0"	"10"	"17"	"44249199"	"44249199"	"subst"	"0.117862"	"02327"	"KANSL1_000010"	"g.44249199T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46171833T>G"	""	"benign"	""
"0000349148"	"0"	"10"	"17"	"44117119"	"44117119"	"subst"	"0.145047"	"02327"	"KANSL1_000023"	"g.44117119A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46039753A>G"	""	"benign"	""
"0000351207"	"0"	"70"	"17"	"44110442"	"44110442"	"subst"	"0"	"02327"	"KANSL1_000055"	"g.44110442T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46033076T>C"	""	"likely pathogenic"	""
"0000351208"	"0"	"70"	"17"	"44111654"	"44111654"	"subst"	"0"	"02327"	"KANSL1_000060"	"g.44111654G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46034288G>T"	""	"likely pathogenic"	""
"0000351209"	"0"	"10"	"17"	"44115886"	"44115886"	"subst"	"0.144287"	"02327"	"KANSL1_000026"	"g.44115886C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46038520C>T"	""	"benign"	""
"0000562043"	"0"	"30"	"17"	"44109450"	"44109450"	"subst"	"0.000243793"	"01804"	"MAPT_000130"	"g.44109450G>A"	""	""	""	"KANSL1(NM_001193465.1):c.3050C>T (p.(Thr1017Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46032084G>A"	""	"likely benign"	""
"0000562045"	"0"	"90"	"17"	"44109506"	"44109506"	"del"	"0"	"01943"	"MAPT_000132"	"g.44109506del"	""	""	""	"KANSL1(NM_001193466.1):c.2997delA (p.A1000Hfs*14)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46032140del"	""	"pathogenic"	""
"0000562046"	"0"	"90"	"17"	"44109566"	"44109566"	"dup"	"0"	"01943"	"MAPT_000133"	"g.44109566dup"	""	""	""	"KANSL1(NM_001193466.1):c.2939dupT (p.L980Ffs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46032200dup"	""	"pathogenic"	""
"0000562049"	"0"	"90"	"17"	"44116533"	"44116534"	"del"	"0"	"01943"	"KANSL1_000070"	"g.44116533_44116534del"	""	""	""	"KANSL1(NM_001193466.1):c.2251_2252delTT (p.L751Rfs*29)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46039167_46039168del"	""	"pathogenic"	""
"0000562050"	"0"	"30"	"17"	"44117136"	"44117136"	"subst"	"0.0000406111"	"02325"	"KANSL1_000071"	"g.44117136G>A"	""	""	""	"KANSL1(NM_001193466.2):c.2135C>T (p.P712L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46039770G>A"	""	"likely benign"	""
"0000562053"	"0"	"50"	"17"	"44171966"	"44171966"	"subst"	"0.00000812757"	"01804"	"KANSL1_000074"	"g.44171966C>T"	""	""	""	"KANSL1(NM_001193465.1):c.1391G>A (p.(Arg464His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46094600C>T"	""	"VUS"	""
"0000562054"	"0"	"30"	"17"	"44248272"	"44248272"	"subst"	"0"	"01804"	"KANSL1_000075"	"g.44248272A>T"	""	""	""	"KANSL1(NM_001193465.1):c.1238T>A (p.(Ile413Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46170906A>T"	""	"likely benign"	""
"0000562056"	"0"	"30"	"17"	"44248830"	"44248830"	"subst"	"0.000719179"	"01804"	"KANSL1_000076"	"g.44248830C>T"	""	""	""	"KANSL1(NM_001193465.1):c.680G>A (p.(Ser227Asn)), KANSL1(NM_001193466.2):c.680G>A (p.S227N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46171464C>T"	""	"likely benign"	""
"0000562057"	"0"	"30"	"17"	"44248890"	"44248890"	"subst"	"0.000260317"	"01804"	"KANSL1_000077"	"g.44248890T>C"	""	""	""	"KANSL1(NM_001193465.1):c.620A>G (p.(Asn207Ser)), KANSL1(NM_001193466.2):c.620A>G (p.N207S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46171524T>C"	""	"likely benign"	""
"0000616645"	"0"	"30"	"17"	"44116057"	"44116057"	"subst"	"0"	"01804"	"KANSL1_000080"	"g.44116057A>G"	""	""	""	"KANSL1(NM_001193465.1):c.2393-5T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46038691A>G"	""	"likely benign"	""
"0000616646"	"0"	"50"	"17"	"44248815"	"44248815"	"subst"	"0"	"02329"	"KANSL1_000081"	"g.44248815G>C"	""	""	""	"KANSL1(NM_001193466.1):c.695C>G (p.S232C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46171449G>C"	""	"VUS"	""
"0000616647"	"0"	"70"	"17"	"44249041"	"44249045"	"del"	"0"	"02327"	"KANSL1_000082"	"g.44249041_44249045del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46171675_46171679del"	""	"likely pathogenic"	""
"0000623703"	"0"	"50"	"17"	"44115935"	"44115935"	"subst"	"0"	"02325"	"KANSL1_000079"	"g.44115935C>A"	""	""	""	"KANSL1(NM_001193466.2):c.2510G>T (p.S837I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46038569C>A"	""	"VUS"	""
"0000649623"	"1"	"30"	"17"	"44144013"	"44144013"	"subst"	"0.000984332"	"03575"	"KANSL1_000083"	"g.44144013C>T"	"5/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"5 heterozygous, no homozygous; {DB:CLININrs117412152}"	"Germline"	""	"rs117412152"	"0"	""	""	"g.46066647C>T"	""	"likely benign"	""
"0000649624"	"1"	"30"	"17"	"44248614"	"44248614"	"subst"	"0.0000243669"	"03575"	"KANSL1_000084"	"g.44248614C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs201785695}"	"Germline"	""	"rs201785695"	"0"	""	""	"g.46171248C>T"	""	"likely benign"	""
"0000658162"	"0"	"90"	"17"	"44116532"	"44116532"	"dup"	"0"	"02330"	"KANSL1_000085"	"g.44116532dup"	""	""	""	"KANSL1(NM_001193466.1):c.2253dupA (p.D752Rfs*29)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46039166dup"	""	"pathogenic"	""
"0000658163"	"0"	"90"	"17"	"44248294"	"44248297"	"dup"	"0"	"01943"	"KANSL1_000086"	"g.44248294_44248297dup"	""	""	""	"KANSL1(NM_001193466.1):c.1213_1216dupAGTA (p.S406Kfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46170928_46170931dup"	""	"pathogenic"	""
"0000660279"	"0"	"50"	"17"	"44249211"	"44249211"	"subst"	"0"	"01164"	"KANSL1_000087"	"g.44249211C>T"	""	""	""	""	"ACMG grading: PM2,PP3"	"Germline"	""	""	"0"	""	""	"g.46171845C>T"	""	"VUS"	"ACMG"
"0000674108"	"0"	"70"	"17"	"44110827"	"44110827"	"subst"	"0"	"01807"	"KANSL1_000088"	"g.44110827C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000680906"	"0"	"50"	"17"	"44117112"	"44117112"	"subst"	"0.000199064"	"01943"	"KANSL1_000090"	"g.44117112C>T"	""	""	""	"KANSL1(NM_001193466.1):c.2159G>A (p.R720H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680907"	"0"	"30"	"17"	"44248783"	"44248783"	"subst"	"0.00183341"	"01943"	"KANSL1_000067"	"g.44248783G>T"	""	""	""	"KANSL1(NM_001193466.1):c.727C>A (p.Q243K), KANSL1(NM_001193466.2):c.727C>A (p.Q243K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682927"	"0"	"70"	"17"	"44127895"	"44127895"	"subst"	"0"	"03760"	"KANSL1_000095"	"g.44127895T>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000682941"	"0"	"90"	"17"	"44248970"	"44248970"	"del"	"0"	"03760"	"KANSL1_000091"	"g.44248970del"	""	"{PMID:Keen 2017:28211987}, {DOI:Keen 2017:10.1002/ajmg.a.38080}"	""	"540delA"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000682942"	"0"	"50"	"17"	"44111654"	"44111654"	"subst"	"0"	"03760"	"KANSL1_000092"	"g.44111654G>T"	""	"{PMID:Dingemans 2021:33603161}, {DOI:Dingemans 2021:10.1038/s41431-021-00824-x}"	""	"2543-3C>A"	""	"De novo"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000682943"	"0"	"70"	"17"	"44159892"	"44159892"	"subst"	"0"	"03760"	"KANSL1_000093"	"g.44159892C>T"	""	"{PMID:Dingemans 2021:33603161}, {DOI:Dingemans 2021:10.1038/s41431-021-00824-x}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000682944"	"0"	"50"	"17"	"44248980"	"44248980"	"subst"	"0.0000235918"	"03760"	"KANSL1_000094"	"g.44248980T>C"	""	"{PMID:Dingemans 2021:33603161}, {DOI:Dingemans 2021:10.1038/s41431-021-00824-x}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000692378"	"0"	"30"	"17"	"44109073"	"44109073"	"subst"	"0"	"02325"	"MAPT_000140"	"g.44109073T>C"	""	""	""	"KANSL1(NM_001193466.2):c.3091-4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726466"	"0"	"90"	"17"	"44109472"	"44109472"	"subst"	"0"	"02329"	"MAPT_000131"	"g.44109472G>A"	""	""	""	"KANSL1(NM_001193466.2):c.3031C>T (p.R1011*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000726467"	"0"	"70"	"17"	"44116054"	"44116054"	"subst"	"0"	"02329"	"KANSL1_000096"	"g.44116054T>C"	""	""	""	"KANSL1(NM_001193466.2):c.2393-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000726468"	"0"	"90"	"17"	"44116532"	"44116532"	"dup"	"0"	"02329"	"KANSL1_000085"	"g.44116532dup"	""	""	""	"KANSL1(NM_001193466.2):c.2253dupA (p.D752Rfs*29)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000726469"	"0"	"90"	"17"	"44249205"	"44249215"	"del"	"0"	"02329"	"KANSL1_000078"	"g.44249205_44249215del"	""	""	""	"KANSL1(NM_001193466.2):c.297_307delAGGGGTCTTCA (p.G100Qfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000795640"	"0"	"70"	"17"	"44248701"	"44248702"	"del"	"0.0000243657"	"00000"	"KANSL1_000065"	"g.44248701_44248702del"	""	"{PMID:Nair 2018:30293248}"	""	"different transcript: NM_015443.3:c.808_809del; p.L270Vfs"	""	"Unknown"	"?"	"rs551541795"	"0"	""	""	"g.46171335_46171336del"	""	"likely pathogenic"	""
"0000808053"	"0"	"30"	"17"	"44108991"	"44108991"	"subst"	"0"	"02327"	"MAPT_000147"	"g.44108991G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808054"	"0"	"90"	"17"	"44143935"	"44143935"	"subst"	"0"	"01943"	"KANSL1_000001"	"g.44143935G>A"	""	""	""	"KANSL1(NM_001193466.1):c.1816C>T (p.R606*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000808055"	"0"	"30"	"17"	"44248890"	"44248890"	"subst"	"0.000260317"	"02325"	"KANSL1_000077"	"g.44248890T>C"	""	""	""	"KANSL1(NM_001193465.1):c.620A>G (p.(Asn207Ser)), KANSL1(NM_001193466.2):c.620A>G (p.N207S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854967"	"0"	"30"	"17"	"44143899"	"44143899"	"subst"	"0.0000328704"	"02325"	"KANSL1_000097"	"g.44143899C>T"	""	""	""	"KANSL1(NM_001193466.2):c.1848+4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854968"	"0"	"50"	"17"	"44249437"	"44249437"	"subst"	"0.0000121969"	"01943"	"KANSL1_000098"	"g.44249437G>C"	""	""	""	"KANSL1(NM_001193466.1):c.73C>G (p.P25A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865329"	"0"	"50"	"17"	"44110564"	"44110564"	"subst"	"0"	"01943"	"MAPT_000151"	"g.44110564A>G"	""	""	""	"KANSL1(NM_001193466.1):c.2725-6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893983"	"0"	"50"	"17"	"44108993"	"44108993"	"subst"	"0"	"02325"	"MAPT_000152"	"g.44108993G>A"	""	""	""	"KANSL1(NM_001193466.2):c.3167C>T (p.A1056V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893984"	"0"	"50"	"17"	"44109050"	"44109050"	"subst"	"0.000012464"	"02325"	"MAPT_000153"	"g.44109050C>T"	""	""	""	"KANSL1(NM_001193466.2):c.3110G>A (p.R1037Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893985"	"0"	"50"	"17"	"44145006"	"44145006"	"subst"	"0"	"02325"	"KANSL1_000099"	"g.44145006T>C"	""	""	""	"KANSL1(NM_001193466.2):c.1561A>G (p.N521D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893986"	"0"	"30"	"17"	"44248830"	"44248830"	"subst"	"0.000719179"	"02325"	"KANSL1_000076"	"g.44248830C>T"	""	""	""	"KANSL1(NM_001193465.1):c.680G>A (p.(Ser227Asn)), KANSL1(NM_001193466.2):c.680G>A (p.S227N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000893987"	"0"	"30"	"17"	"44248875"	"44248875"	"subst"	"0.000365717"	"02325"	"KANSL1_000012"	"g.44248875T>C"	""	""	""	"KANSL1(NM_001193466.2):c.635A>G (p.H212R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926524"	"0"	"50"	"17"	"44248783"	"44248783"	"subst"	"0.00000406521"	"02325"	"KANSL1_000066"	"g.44248783G>A"	""	""	""	"KANSL1(NM_001193466.2):c.727C>T (p.Q243*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000926525"	"0"	"30"	"17"	"44248783"	"44248783"	"subst"	"0.00183341"	"02325"	"KANSL1_000067"	"g.44248783G>T"	""	""	""	"KANSL1(NM_001193466.1):c.727C>A (p.Q243K), KANSL1(NM_001193466.2):c.727C>A (p.Q243K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930800"	"0"	"50"	"17"	"44248233"	"44248233"	"subst"	"0.00000829869"	"02325"	"KANSL1_000100"	"g.44248233C>G"	""	""	""	"KANSL1(NM_001193466.2):c.1277G>C (p.R426P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes KANSL1
## Count = 121
"{{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}}"
"0000086462"	"00024084"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_15_"
"0000164212"	"00024084"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_15_"
"0000188775"	"00024084"	"57"	"1816"	"0"	"1816"	"0"	"c.1816C>T"	"r.(?)"	"p.(Arg606*)"	"6"
"0000188776"	"00024084"	"57"	"2785"	"0"	"2786"	"0"	"c.2785_2786del"	"r.(?)"	"p.(Arg929Glyfs*44)"	"13"
"0000188777"	"00024084"	"10"	"1157"	"0"	"1157"	"0"	"c.1157G>T"	"r.(?)"	"p.(Ser386Ile)"	"2"
"0000188778"	"00024084"	"99"	"916"	"0"	"916"	"0"	"c.916C>T"	"r.916c>u"	"p.Gln306*"	"2"
"0000188779"	"00024084"	"99"	"1652"	"1"	"1652"	"1"	"c.1652+1G>A"	"r.1534_1652del"	"p.Leu552Phefs*13"	"5i"
"0000188780"	"00024084"	"95"	"1432"	"-1"	"4878"	"0"	"c.1432-?_(*1560_?)del"	"r.?"	"p.0?"	"3i_15_"
"0000188781"	"00024084"	"95"	"2204"	"-1"	"4878"	"0"	"c.2204-?_(*1560_?)del"	"r.?"	"p.0?"	"8i_15_"
"0000188782"	"00024084"	"10"	"1157"	"0"	"1157"	"0"	"c.1157G>T"	"r.(?)"	"p.(Ser386Ile)"	"2"
"0000188783"	"00024084"	"10"	"-31417"	"0"	"-31417"	"0"	"c.-31417A>T"	"r.(?)"	"p.(?)"	"-"
"0000188784"	"00024084"	"10"	"-89"	"-23"	"-89"	"-23"	"c.-89-23T>C"	"r.(?)"	"p.(?)"	"1i"
"0000188785"	"00024084"	"10"	"311"	"0"	"311"	"0"	"c.311A>C"	"r.(?)"	"p.(Lys104Thr)"	"2"
"0000188786"	"00024084"	"10"	"414"	"0"	"414"	"0"	"c.414T>G"	"r.(?)"	"p.(=)"	"2"
"0000188787"	"00024084"	"10"	"635"	"0"	"635"	"0"	"c.635A>G"	"r.(?)"	"p.(His212Arg)"	"2"
"0000188788"	"00024084"	"10"	"662"	"0"	"662"	"0"	"c.662C>T"	"r.(?)"	"p.(Thr221Ile)"	"2"
"0000188789"	"00024084"	"10"	"673"	"0"	"673"	"0"	"c.673A>G"	"r.(?)"	"p.(Asn225Asp)"	"2"
"0000188790"	"00024084"	"10"	"696"	"0"	"696"	"0"	"c.696C>T"	"r.(?)"	"p.(=)"	"2"
"0000188791"	"00024084"	"10"	"741"	"0"	"741"	"0"	"c.741A>G"	"r.(?)"	"p.(=)"	"2"
"0000188792"	"00024084"	"10"	"1011"	"0"	"1011"	"0"	"c.1011C>G"	"r.(?)"	"p.(Ser337=)"	"2"
"0000188793"	"00024084"	"10"	"1157"	"0"	"1157"	"0"	"c.1157G>T"	"r.(?)"	"p.(Ser386Ile)"	"2"
"0000188794"	"00024084"	"10"	"1432"	"-80"	"1432"	"-80"	"c.1432-80C>T"	"r.(=)"	"p.(=)"	"3i"
"0000188795"	"00024084"	"10"	"1491"	"0"	"1491"	"0"	"c.1491A>G"	"r.(?)"	"p.(=)"	"4"
"0000188796"	"00024084"	"10"	"1653"	"-54"	"1653"	"-54"	"c.1653-54A>G"	"r.(?)"	"p.(?)"	"5i"
"0000188797"	"00024084"	"10"	"1849"	"-55"	"1849"	"-55"	"c.1849-55T>G"	"r.(?)"	"p.(?)"	"6i"
"0000188798"	"00024084"	"10"	"2136"	"0"	"2136"	"0"	"c.2136G>A"	"r.(?)"	"p.(=)"	"8"
"0000188799"	"00024084"	"10"	"2152"	"0"	"2152"	"0"	"c.2152T>C"	"r.(?)"	"p.(Ser718Pro)"	"8"
"0000188800"	"00024084"	"10"	"2203"	"75"	"2203"	"75"	"c.2203+75G>A"	"r.(?)"	"p.(?)"	"8i"
"0000188801"	"00024084"	"10"	"2392"	"81"	"2392"	"81"	"c.2392+81A>G"	"r.(?)"	"p.(?)"	"9i"
"0000188802"	"00024084"	"10"	"2541"	"18"	"2541"	"18"	"c.2541+18G>A"	"r.(?)"	"p.(?)"	"10i"
"0000188803"	"00024084"	"10"	"2577"	"0"	"2577"	"0"	"c.2577T>C"	"r.(?)"	"p.(=)"	"11"
"0000188804"	"00024084"	"10"	"2664"	"-62"	"2664"	"-62"	"c.2664-62T>A"	"r.(?)"	"p.(?)"	"11i"
"0000188805"	"00024084"	"10"	"2739"	"0"	"2739"	"0"	"c.2739C>T"	"r.(?)"	"p.(=)"	"13"
"0000188806"	"00024084"	"10"	"2748"	"0"	"2748"	"0"	"c.2748C>T"	"r.(?)"	"p.(=)"	"13"
"0000188807"	"00024084"	"10"	"2776"	"0"	"2776"	"0"	"c.2776A>G"	"r.(?)"	"p.(Met926Val)"	"13"
"0000188808"	"00024084"	"10"	"2946"	"0"	"2946"	"0"	"c.2946C>T"	"r.(?)"	"p.(=)"	"14"
"0000188809"	"00024084"	"10"	"3026"	"0"	"3026"	"0"	"c.3026C>T"	"r.(?)"	"p.(Pro1009Leu)"	"14"
"0000188810"	"00024084"	"10"	"3251"	"0"	"3251"	"0"	"c.3251T>C"	"r.(?)"	"p.(Ile1084Thr)"	"15"
"0000188811"	"00024084"	"90"	"1652"	"1"	"1652"	"1"	"c.1652+1G>A"	"r.spl?"	"p.(?)"	"5i"
"0000188812"	"00024084"	"90"	"985"	"0"	"986"	"0"	"c.985_986del"	"r.(?)"	"p.(leu329Glufs*22)"	"2"
"0000188813"	"00024084"	"90"	"1867"	"0"	"1870"	"0"	"c.1867_1870del"	"r.(?)"	"p.(Ile623Alafs*6)"	"7"
"0000188814"	"00024084"	"90"	"531"	"0"	"540"	"0"	"c.531_540del"	"r.(?)"	"p.(Gly179Leufs*20)"	"2"
"0000188815"	"00024084"	"90"	"2725"	"-1"	"2725"	"-1"	"c.2725-1G>C"	"r.spl?"	"p.(?)"	"12i"
"0000188816"	"00024084"	"90"	"1639"	"0"	"1646"	"0"	"c.1639_1646del"	"r.(?)"	"p.(Gly547*)"	"5"
"0000188817"	"00024084"	"90"	"572"	"0"	"572"	"0"	"c.572del"	"r.(?)"	"p.(Gly191Valfs*11)"	"2"
"0000188818"	"00024084"	"90"	"2699"	"0"	"2702"	"0"	"c.2699_2702dup"	"r.(?)"	"p.(Ser901Argfs*4)"	"12"
"0000188819"	"00024084"	"90"	"3125"	"0"	"3125"	"0"	"c.3125del"	"r.(?)"	"p.(leu1042Argfs*71)"	"15"
"0000188820"	"00024084"	"90"	"908"	"0"	"909"	"0"	"c.908_909del"	"r.(?)"	"p.(Lys303Thrfs*11)"	"2"
"0000251978"	"00024084"	"30"	"2494"	"0"	"2494"	"0"	"c.2494T>C"	"r.(?)"	"p.(Ser832Pro)"	""
"0000281692"	"00024084"	"10"	"1011"	"0"	"1011"	"0"	"c.1011C>G"	"r.(?)"	"p.(Ser337=)"	""
"0000281693"	"00024084"	"50"	"1157"	"0"	"1157"	"0"	"c.1157G>T"	"r.(?)"	"p.(Ser386Ile)"	""
"0000281694"	"00024084"	"10"	"1574"	"0"	"1574"	"0"	"c.1574="	"r.(=)"	"p.(Pro525=)"	""
"0000281695"	"00024084"	"10"	"3029"	"0"	"3029"	"0"	"c.3029C>T"	"r.(?)"	"p.(Pro1010Leu)"	""
"0000281696"	"00024084"	"10"	"662"	"0"	"662"	"0"	"c.662C>T"	"r.(?)"	"p.(Thr221Ile)"	""
"0000325476"	"00024084"	"50"	"31"	"0"	"31"	"0"	"c.31G>A"	"r.(?)"	"p.(Ala11Thr)"	""
"0000338109"	"00024084"	"90"	"1653"	"-3"	"1653"	"-3"	"c.1653-3T>G"	"r.spl?"	"p.?"	""
"0000340088"	"00024084"	"10"	"2751"	"0"	"2751"	"0"	"c.2751C>T"	"r.(?)"	"p.(Phe917=)"	""
"0000340089"	"00024084"	"10"	"2742"	"0"	"2742"	"0"	"c.2742C>T"	"r.(?)"	"p.(Asp914=)"	""
"0000340090"	"00024084"	"10"	"2580"	"0"	"2580"	"0"	"c.2580T>C"	"r.(?)"	"p.(Phe860=)"	""
"0000340092"	"00024084"	"10"	"1491"	"0"	"1491"	"0"	"c.1491A>G"	"r.(?)"	"p.(Pro497=)"	""
"0000340093"	"00024084"	"10"	"1011"	"0"	"1011"	"0"	"c.1011C>G"	"r.(?)"	"p.(Ser337=)"	""
"0000340094"	"00024084"	"10"	"741"	"0"	"741"	"0"	"c.741A>G"	"r.(?)"	"p.(Arg247=)"	""
"0000340095"	"00024084"	"10"	"696"	"0"	"696"	"0"	"c.696C>T"	"r.(?)"	"p.(Ser232=)"	""
"0000340096"	"00024084"	"10"	"414"	"0"	"414"	"0"	"c.414T>G"	"r.(?)"	"p.(Leu138=)"	""
"0000343120"	"00024084"	"90"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Arg576Ter)"	""
"0000343659"	"00024084"	"10"	"673"	"0"	"673"	"0"	"c.673A>G"	"r.(?)"	"p.(Asn225Asp)"	""
"0000344205"	"00024084"	"30"	"2740"	"0"	"2740"	"0"	"c.2740G>A"	"r.(?)"	"p.(Asp914Asn)"	""
"0000344693"	"00024084"	"10"	"727"	"0"	"727"	"0"	"c.727C>A"	"r.(?)"	"p.(Gln243Lys)"	""
"0000346045"	"00024084"	"30"	"1160"	"0"	"1160"	"0"	"c.1160G>A"	"r.(?)"	"p.(Gly387Asp)"	""
"0000346553"	"00024084"	"10"	"3254"	"0"	"3254"	"0"	"c.3254T>C"	"r.(?)"	"p.(Ile1085Thr)"	""
"0000347363"	"00024084"	"10"	"311"	"0"	"311"	"0"	"c.311A>C"	"r.(?)"	"p.(Lys104Thr)"	""
"0000349148"	"00024084"	"10"	"2152"	"0"	"2152"	"0"	"c.2152T>C"	"r.(?)"	"p.(Ser718Pro)"	""
"0000351207"	"00024084"	"70"	"2837"	"4"	"2837"	"4"	"c.2837+4A>G"	"r.spl?"	"p.?"	""
"0000351208"	"00024084"	"70"	"2542"	"-3"	"2542"	"-3"	"c.2542-3C>A"	"r.spl?"	"p.?"	""
"0000351209"	"00024084"	"10"	"2541"	"18"	"2541"	"18"	"c.2541+18G>A"	"r.(=)"	"p.(=)"	""
"0000562043"	"00024084"	"30"	"3053"	"0"	"3053"	"0"	"c.3053C>T"	"r.(?)"	"p.(Thr1018Ile)"	""
"0000562045"	"00024084"	"90"	"2997"	"0"	"2997"	"0"	"c.2997del"	"r.(?)"	"p.(Ala1000HisfsTer14)"	""
"0000562046"	"00024084"	"90"	"2939"	"0"	"2939"	"0"	"c.2939dup"	"r.(?)"	"p.(Leu980PhefsTer11)"	""
"0000562049"	"00024084"	"90"	"2251"	"0"	"2252"	"0"	"c.2251_2252del"	"r.(?)"	"p.(Leu751ArgfsTer29)"	""
"0000562050"	"00024084"	"30"	"2135"	"0"	"2135"	"0"	"c.2135C>T"	"r.(?)"	"p.(Pro712Leu)"	""
"0000562053"	"00024084"	"50"	"1391"	"0"	"1391"	"0"	"c.1391G>A"	"r.(?)"	"p.(Arg464His)"	""
"0000562054"	"00024084"	"30"	"1238"	"0"	"1238"	"0"	"c.1238T>A"	"r.(?)"	"p.(Ile413Asn)"	""
"0000562056"	"00024084"	"30"	"680"	"0"	"680"	"0"	"c.680G>A"	"r.(?)"	"p.(Ser227Asn)"	""
"0000562057"	"00024084"	"30"	"620"	"0"	"620"	"0"	"c.620A>G"	"r.(?)"	"p.(Asn207Ser)"	""
"0000616645"	"00024084"	"30"	"2393"	"-5"	"2393"	"-5"	"c.2393-5T>C"	"r.spl?"	"p.?"	""
"0000616646"	"00024084"	"50"	"695"	"0"	"695"	"0"	"c.695C>G"	"r.(?)"	"p.(Ser232Cys)"	""
"0000616647"	"00024084"	"70"	"468"	"0"	"472"	"0"	"c.468_472del"	"r.(?)"	"p.(Leu157Ter)"	""
"0000623703"	"00024084"	"50"	"2510"	"0"	"2510"	"0"	"c.2510G>T"	"r.(?)"	"p.(Ser837Ile)"	""
"0000649623"	"00024084"	"30"	"1738"	"0"	"1738"	"0"	"c.1738G>A"	"r.(?)"	"p.(Val580Ile)"	""
"0000649624"	"00024084"	"30"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Arg299His)"	""
"0000658162"	"00024084"	"90"	"2253"	"0"	"2253"	"0"	"c.2253dup"	"r.(?)"	"p.(Asp752ArgfsTer29)"	""
"0000658163"	"00024084"	"90"	"1213"	"0"	"1216"	"0"	"c.1213_1216dup"	"r.(?)"	"p.(Ser406LysfsTer2)"	""
"0000660279"	"00024084"	"50"	"299"	"0"	"299"	"0"	"c.299G>A"	"r.(?)"	"p.(Gly100Glu)"	""
"0000674108"	"00024084"	"70"	"2667"	"-1"	"2667"	"-1"	"c.2667-1G>A"	"r.(?)"	"p.(?)"	""
"0000680906"	"00024084"	"50"	"2159"	"0"	"2159"	"0"	"c.2159G>A"	"r.(?)"	"p.(Arg720His)"	""
"0000680907"	"00024084"	"30"	"727"	"0"	"727"	"0"	"c.727C>A"	"r.(?)"	"p.(Gln243Lys)"	""
"0000682927"	"00024084"	"70"	"2020"	"4"	"2020"	"4"	"c.2020+4A>G"	"r.spl?"	"p.?"	""
"0000682941"	"00024084"	"90"	"540"	"0"	"540"	"0"	"c.540del"	"r.(?)"	"p.(Lys180Asnfs*22)"	""
"0000682942"	"00024084"	"50"	"2542"	"-3"	"2542"	"-3"	"c.2542-3C>A"	"r.(2546_2548del)"	"p.(Gln848del)"	""
"0000682943"	"00024084"	"70"	"1448"	"0"	"1448"	"0"	"c.1448G>A"	"r.(?)"	"p.(Gly483Glu)"	""
"0000682944"	"00024084"	"50"	"530"	"0"	"530"	"0"	"c.530A>G"	"r.(?)"	"p.(Asn177Ser)"	""
"0000692378"	"00024084"	"30"	"3091"	"-4"	"3091"	"-4"	"c.3091-4A>G"	"r.spl?"	"p.?"	""
"0000726466"	"00024084"	"90"	"3031"	"0"	"3031"	"0"	"c.3031C>T"	"r.(?)"	"p.(Arg1011Ter)"	""
"0000726467"	"00024084"	"70"	"2393"	"-2"	"2393"	"-2"	"c.2393-2A>G"	"r.spl?"	"p.?"	""
"0000726468"	"00024084"	"90"	"2253"	"0"	"2253"	"0"	"c.2253dup"	"r.(?)"	"p.(Asp752ArgfsTer29)"	""
"0000726469"	"00024084"	"90"	"297"	"0"	"307"	"0"	"c.297_307del"	"r.(?)"	"p.(Gly100GlnfsTer6)"	""
"0000795640"	"00024084"	"70"	"808"	"0"	"809"	"0"	"c.808_809del"	"r.(?)"	"p.(Leu270Valfs*11)"	""
"0000808053"	"00024084"	"30"	"3169"	"0"	"3169"	"0"	"c.3169C>T"	"r.(?)"	"p.(Gln1057*)"	""
"0000808054"	"00024084"	"90"	"1816"	"0"	"1816"	"0"	"c.1816C>T"	"r.(?)"	"p.(Arg606*)"	""
"0000808055"	"00024084"	"30"	"620"	"0"	"620"	"0"	"c.620A>G"	"r.(?)"	"p.(Asn207Ser)"	""
"0000854967"	"00024084"	"30"	"1848"	"4"	"1848"	"4"	"c.1848+4G>A"	"r.spl?"	"p.?"	""
"0000854968"	"00024084"	"50"	"73"	"0"	"73"	"0"	"c.73C>G"	"r.(?)"	"p.(Pro25Ala)"	""
"0000865329"	"00024084"	"50"	"2725"	"-6"	"2725"	"-6"	"c.2725-6T>C"	"r.(=)"	"p.(=)"	""
"0000893983"	"00024084"	"50"	"3167"	"0"	"3167"	"0"	"c.3167C>T"	"r.(?)"	"p.(Ala1056Val)"	""
"0000893984"	"00024084"	"50"	"3110"	"0"	"3110"	"0"	"c.3110G>A"	"r.(?)"	"p.(Arg1037Gln)"	""
"0000893985"	"00024084"	"50"	"1561"	"0"	"1561"	"0"	"c.1561A>G"	"r.(?)"	"p.(Asn521Asp)"	""
"0000893986"	"00024084"	"30"	"680"	"0"	"680"	"0"	"c.680G>A"	"r.(?)"	"p.(Ser227Asn)"	""
"0000893987"	"00024084"	"30"	"635"	"0"	"635"	"0"	"c.635A>G"	"r.(?)"	"p.(His212Arg)"	""
"0000926524"	"00024084"	"50"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Gln243Ter)"	""
"0000926525"	"00024084"	"30"	"727"	"0"	"727"	"0"	"c.727C>A"	"r.(?)"	"p.(Gln243Lys)"	""
"0000930800"	"00024084"	"50"	"1277"	"0"	"1277"	"0"	"c.1277G>C"	"r.(?)"	"p.(Arg426Pro)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 58
"{{screeningid}}"	"{{variantid}}"
"0000054865"	"0000086462"
"0000101628"	"0000164212"
"0000117762"	"0000188775"
"0000117763"	"0000188776"
"0000117764"	"0000188777"
"0000117764"	"0000188778"
"0000117765"	"0000188779"
"0000117766"	"0000188780"
"0000117767"	"0000188781"
"0000117768"	"0000188782"
"0000117769"	"0000188783"
"0000117770"	"0000188784"
"0000117771"	"0000188785"
"0000117772"	"0000188786"
"0000117773"	"0000188787"
"0000117774"	"0000188788"
"0000117775"	"0000188789"
"0000117776"	"0000188790"
"0000117777"	"0000188791"
"0000117778"	"0000188792"
"0000117779"	"0000188793"
"0000117780"	"0000188794"
"0000117781"	"0000188795"
"0000117782"	"0000188796"
"0000117783"	"0000188797"
"0000117784"	"0000188798"
"0000117785"	"0000188799"
"0000117786"	"0000188800"
"0000117787"	"0000188801"
"0000117788"	"0000188802"
"0000117789"	"0000188803"
"0000117790"	"0000188804"
"0000117791"	"0000188805"
"0000117792"	"0000188806"
"0000117793"	"0000188807"
"0000117794"	"0000188808"
"0000117795"	"0000188809"
"0000117796"	"0000188810"
"0000117797"	"0000188811"
"0000117798"	"0000188812"
"0000117799"	"0000188813"
"0000117800"	"0000188814"
"0000117801"	"0000188815"
"0000117802"	"0000188816"
"0000117803"	"0000188817"
"0000117804"	"0000188818"
"0000117805"	"0000188819"
"0000117806"	"0000188820"
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