### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = STAG1)
# 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}}"
"STAG1"	"stromal antigen 1"	"3"	"q22.2-q22.3"	"unknown"	"NC_000003.11"	"UD_132612546704"	""	"https://www.LOVD.nl/STAG1"	""	"1"	"11354"	"10274"	"604358"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/STAG1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2012-09-13 00:00:00"	"00006"	"2021-06-17 10:53:30"	"00000"	"2025-07-08 13:22:38"


## 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}}"
"00001630"	"STAG1"	"stromal antigen 1"	"001"	"NM_005862.2"	""	"NP_005853.2"	""	""	""	"-292"	"4874"	"3777"	"136055999"	"136471245"	"00000"	"2012-09-13 13:43:16"	""	""


## 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"
"00841"	"EIEE"	"encephalopathy, epileptic, early infantile (EIEE)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2015-02-20 16:58:56"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"06577"	"MRD47"	"Mental retardation, autosomal dominant 47"	"AD"	"617635"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"STAG1"	"06577"


## Individuals ## Do not remove or alter this header ##
## Count = 40
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00019901"	""	""	""	"1"	""	"00705"	"{PMID:Gilissen 2014:24896178}"	""	"?"	"?"	""	""	"0"	""	""	""	""
"00226144"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00248483"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00301261"	""	""	""	"1"	""	"03512"	"{PMID:Minardi 2020:32725632}"	""	"M"	""	"Italy"	""	""	""	""	""	""
"00376132"	""	""	""	"1"	""	"03288"	""	""	"F"	"no"	"Italy"	""	""	""	""	""	""
"00431832"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"214203"
"00435474"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"? (unknown)"	""	"0"	""	""	""	"265451"
"00436280"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	"2-generation family, 1 affected, unaffected; non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"DECIPHER250264"
"00436281"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	"2-generation family, 1 affected, unaffected; non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"DECIPHER252519"
"00436282"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"DECIPHER255849"
"00436283"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	"2-generation family, 1 affected, unaffected; non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"DECIPHER265044"
"00436284"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	"2-generation family, 1 affected, unaffected; non-carrier parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"DECIPHER265582"
"00436285"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"DECIPHER267690"
"00436286"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"DECIPHER289969"
"00436287"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	"2-generation family, 1 affected, unaffected; non-carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"DECIPHER308397"
"00436288"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	"2-generation family, 1 affected, unaffected; non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00436289"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	""	"F"	""	""	""	"0"	""	""	""	"Pat5"
"00436290"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	"2-generation family, 1 affected, unaffected; non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat6"
"00436293"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	"2-generation family, 1 affected, unaffected; non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat1"
"00436294"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	"2-generation family, 1 affected, unaffected; non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat2"
"00436295"	""	""	""	"1"	""	"00006"	"{PMID:Yuan 2019:30158690}"	"2-generation family, 1 affected, unaffected; non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat3"
"00436306"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"Pat1"
"00436307"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat2"
"00436308"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat3"
"00436309"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"parents first-cousins parents"	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00436310"	""	""	""	"2"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"family, 2 affected (F, M), family history of intellectual disability, six members carry the same STAG1 deletion"	"M"	""	""	""	"0"	""	""	""	"Pat5a"
"00436311"	""	""	"00436310"	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"maternal half sister"	"F"	""	""	""	"0"	""	""	""	"Pat5b"
"00436312"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat6"
"00436313"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat7"
"00436314"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"Pat8"
"00436315"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat9"
"00436316"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat10"
"00436317"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents, brother with ADHD"	"F"	""	""	""	"0"	""	""	""	"Pat11"
"00436318"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat12"
"00436319"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat13"
"00436320"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat14"
"00436321"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat15"
"00436322"	""	""	""	"1"	""	"00006"	"{PMID:Lehalle 2017:28119487}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat16"
"00464708"	""	""	""	"1"	""	"04635"	""	""	"M"	"no"	"China"	""	""	""	""	"Chinese"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 39
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00019901"	"00139"
"00226144"	"00198"
"00301261"	"00841"
"00376132"	"05611"
"00431832"	"06577"
"00435474"	"06577"
"00436280"	"00198"
"00436281"	"00198"
"00436282"	"00198"
"00436283"	"00198"
"00436284"	"00198"
"00436285"	"00198"
"00436286"	"00198"
"00436287"	"00198"
"00436288"	"00198"
"00436289"	"00198"
"00436290"	"00198"
"00436293"	"00198"
"00436294"	"00198"
"00436295"	"00198"
"00436306"	"00198"
"00436307"	"00198"
"00436308"	"00198"
"00436309"	"00198"
"00436310"	"00198"
"00436311"	"00198"
"00436312"	"00198"
"00436313"	"00198"
"00436314"	"00198"
"00436315"	"00198"
"00436316"	"00198"
"00436317"	"00198"
"00436318"	"00198"
"00436319"	"00198"
"00436320"	"00198"
"00436321"	"00198"
"00436322"	"00198"
"00464708"	"06577"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00841, 01157, 05611, 06577
## Count = 40
"{{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/Intellectual_dis/HPO_0001249}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000017614"	"00139"	"00019901"	"00705"	"Unknown"	""	"Moderate ID, features of autism, anxiety, mood instability and aggressive outbursts. No evident dysmorphic features."	""	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	"3w"	""	""	""	""	""	""	""	""	""	""
"0000171256"	"00198"	"00226144"	"01807"	"Unknown"	""	"Cerebellar malformation (HP:0002438); Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of movement (HP:0100022); Dyskinesia (HP:0100660); Muscular hypotonia (HP:0001252)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000187473"	"00198"	"00248483"	"01164"	"Unknown"	""	"HP:0001263 (Global developmental delay); HP:0100851 (Abnormal emotion/affect behavior); HP:0001344 (Absent speech)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000228531"	"00841"	"00301261"	"03512"	"Unknown"	""	""	""	""	""	""	""	"yes"	""	""	""	""	""	""
"0000271343"	"05611"	"00376132"	"03288"	"Isolated (sporadic)"	"05y"	"Relative microcephaly, prominent forehead, deep set eyes, asymmetrical nasal tip, raised ear lobe, mild micrognathia, widely spaced teeth, pectus excavatum, clinodactyly of the 5th finger and persistence of finger fetal pads."	""	""	""	""	""	""	""	""	""	""	"Neurodevelopmental disorder"	""
"0000322401"	"06577"	"00431832"	"01164"	"Unknown"	"11y"	"Intellectual disability, Dry skin, Obesity, Epileptic spasm, Visual impairment, Delayed speech and language development, Hypoplasia of the corpus callosum"	""	""	""	""	""	""	""	""	""	""	""	""
"0000325663"	"06577"	"00435474"	"01164"	"Isolated (sporadic)"	"09y"	"Intrauterine growth retardation, Delayed speech and language development, Global developmental delay, Intellectual disability, Abnormal facial shape, Tooth malposition"	""	""	""	""	""	""	""	""	""	""	""	""
"0000326460"	"00198"	"00436280"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326461"	"00198"	"00436281"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326462"	"00198"	"00436282"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326463"	"00198"	"00436283"	"00006"	"Isolated (sporadic)"	""	"intellectual disability, microcephaly, muscular hypotonia"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326464"	"00198"	"00436284"	"00006"	"Isolated (sporadic)"	""	"hypoplastic philtrum, intellectual disability, upslanted palpebral fissure"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326465"	"00198"	"00436285"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326466"	"00198"	"00436286"	"00006"	"Unknown"	""	"severe intellectual disability, motor deterioration, seizures"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326467"	"00198"	"00436287"	"00006"	"Isolated (sporadic)"	""	"autistic behavior, cleft palate, hypospadias, micrognathia, motor delay, Pierre-Robin sequence"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326468"	"00198"	"00436288"	"00006"	"Isolated (sporadic)"	""	"multiple congenital anomalies"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326469"	"00198"	"00436289"	"00006"	"Unknown"	""	"developmental delay"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326470"	"00198"	"00436290"	"00006"	"Isolated (sporadic)"	""	"developmental delay, dysmorphic features"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326473"	"00198"	"00436293"	"00006"	"Isolated (sporadic)"	"11y5m"	"synophrys; long curly eyelashes; developmental delay, intellectual disability; abnormal elbow extension, 2-3 toe syndactyly; cutis marmorata; submucosal cleft; no failure to thrive; weight 97th, length 67th, OFC >98th; no short stature; no microcephaly; motor delay; severe speech delay; long curly eyelashes; low-set ears; no microtia; dysmorphic ears; no long/smooth philtrum; cleft lip/palate; no hypoplastic nails; significant cutis marmorata; strabismus; no hearing loss; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no structural anomalies renal tract; no scoliosis; no rib fusion; no vertebral anomalies; limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; 2-3 toe syndactyly; MRI brain  increased T2 signal in frontal and parietal white matter; mild hallux valgus; no acute or healing injury; ECG normal"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326474"	"00198"	"00436294"	"00006"	"Isolated (sporadic)"	"4y8m"	"no synophrys; depressed broad nasal bridge, high palate, small chin; developmental delay; small hands; 5th finger clinodactyly, abnormal palmar crease,2-3 syndactyly; seizures,ptosis,tear duct malformation; cryptorchidism, hypoplastic male genitalia, renal malformation; failure to thrive; weight 93rd, length 5th, OFC 2nd; short stature; microcephaly; motor delay; speech delay; behavioral problems; seizures (during infancy); no hypertonia; hypotonia; ptosis; depressed/broad nasal bridge; no low-set ears; no microtia; no dysmorphic ears; high arched palate; no cleft lip/palate; micrognathia; no hearing loss; patent ductus arteriousus; hypoplastic male genitalia; cryptorchidism (left); horseshoe kidney; no scoliosis; no micromelia; no phocomelia; brachydactyly; fifth finger clinodactyly; single transverse palmar crease; 2-3 toe syndactyly; MRI brain ectopic posterior pituitary"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326475"	"00198"	"00436295"	"00006"	"Isolated (sporadic)"	"4y2m"	"synophrys; depressed broad nasal bridge,high palate,widely spaced teeth; developmental delay, intellectual disability; autistic like, aggression; seizures, hirsutism, major eye malformation; no failure to thrive; weight 88th, length 11th, OFC 25-50th; no short stature; no microcephaly; motor delay; speech delay; autism spectrum disorder; behavioral problems; seizures; no hypertonia; hypotonia; no brachycephaly; no long curly eyelashes; no ptosis; no hypertelorism; no anteverted nares; depressed/broad nasal bridge; no bulbous nasal tip; no low-set ears; no microtia; no dysmorphic ears; no long/smooth philtrum; high arched palate; no thin upper lip; no downturned  mouth; no cleft lip/palate; widely spaced teeth; no late-erupting teeth; no micrognathia; no short neck; no hypoplastic nails; hirsutism; no hairline; no cutis marmorata; no myopia; strabismus , exotropia; no hearing loss; no low-pitched, growling cry in infancy; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no recurrent infections; no small nipples; no gastroesophageal reflux; no scoliosis; no rib fusion; no vertebral anomalies; no limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; no single transverse palmar crease; no 2-3 toe syndactyly; MRI brain moderately small optic nerves and chiasm, mild diffuse thinning of the corpus callosum, mild prominence of the left lateral ventricle, likely reflecting mild left-sided periventricular white matter volume loss or hypogenesis. 4. Mildly small pons.; ECG normal"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	""	""
"0000326486"	"00198"	"00436306"	"00006"	"Isolated (sporadic)"	"8y"	"see paper; ..., intrauterine growth retardation; birth weight 1st, length 25th, OFC 1st; weight SD , length SD −2, OFC SD −3; neonatal gastro-oesophageal reflux; moderate intellectual disability; no epilepsy; no autistic features; no hyperlaxity; MRI brain normal; high nasal bridge; deep-set eyes; wide mouth; widely spaced central incisors; thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326487"	"00198"	"00436307"	"00006"	"Isolated (sporadic)"	"12y"	"see paper; ..., intrauterine growth retardation; birth weight 1st, length 3rd, OFC <1st; weight SD 0, length SD 0, OFC SD −4; neonatal feeding difficulties; severe intellectual disability; epilepsy; autistic features; no hyperlaxity; high nasal bridge; deep-set eyes; wide mouth; widely spaced central incisors; thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326488"	"00198"	"00436308"	"00006"	"Isolated (sporadic)"	"33y"	"see paper; ..., pregnancy normal; birth weight 3rd; weight SD 0, length SD 0, OFC SD 0; neonatal feeding difficulties; severe intellectual disability; no epilepsy; autistic features; no hyperlaxity; MRI brain atrophy right hemisphere; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326489"	"00198"	"00436309"	"00006"	"Unknown"	"7y"	"see paper; ..., intrauterine growth retardation; birth weight 3rd; weight SD −2.5, length SD −1, OFC SD −1.5; neonatal hypotonia; severe intellectual disability; epilepsy; no autistic features; hyperlaxity; MRI brain cerebral atrophy, predominant on the vermis; no high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326490"	"00198"	"00436310"	"00006"	"Familial"	"6y"	"see paper; ..., 14d-weight 25-50th, length 75th, OFC 98th; weight SD −1, length SD 0, OFC SD −2; mild intellectual disability; no epilepsy; no autistic features; no hyperlaxity; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326491"	"00198"	"00436311"	"00006"	"Familial"	"2y"	"see paper; ..., pregnancy normal; birth weight 9th-25th; weight SD 0, OFC SD −3; neonatal early feeding difficulties, suspected gastro-oesophageal reflux; mild intellectual disability; no epilepsy; no autistic features; no hyperlaxity; no high nasal bridge; deep-set eyes; no wide mouth; no widely spaced central incisors; thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326492"	"00198"	"00436312"	"00006"	"Unknown"	"6y"	"see paper; ..., increased nuchal translucency, hydramnios, ventriculo-septal defect, single umbilical artery, asymmetric cerebral ventricles, small periventricular cysts; birth weight 70th, length 80th, OFC 80th; weight SD 0, length SD −1, OFC SD +1; neonatal gastro-oesophageal reflux, vesicoureteral reflux; intellectual disability; epilepsy; no autistic features; no hyperlaxity; MRI brain dilatation of ventricles and pericerebral space, partial vermis hypoplasia; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326493"	"00198"	"00436313"	"00006"	"Isolated (sporadic)"	"9y"	"see paper; ..., pregnancy normal; birth weight 70th, length 99th, OFC 70th; weight SD 0, length SD 0, OFC SD −1; neonatal period normal; moderate intellectual disability; no epilepsy; no autistic features; no hyperlaxity; MRI brain normal; high nasal bridge; deep-set eyes; no wide mouth; no widely spaced central incisors; thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326494"	"00198"	"00436314"	"00006"	"Isolated (sporadic)"	"29y"	"see paper; ..., pregnancy normal; birth weight 25th, length 50th, OFC 75th; weight SD −1, length SD 0, OFC SD −1; neonatal period normal; severe intellectual disability; epilepsy; no autistic features; hyperlaxity; MRI brain global brain atrophy; high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326495"	"00198"	"00436315"	"00006"	"Isolated (sporadic)"	"5y9m"	"see paper; ..., pregnancy normal; birth weight 25th; weight SD −1, length SD 0, OFC SD −1.5; neonatal feeding difficulties; moderate intellectual disability; no epilepsy; no autistic features; hyperlaxity; no high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326496"	"00198"	"00436316"	"00006"	"Isolated (sporadic)"	"2y6m"	"see paper; ..., pregnancy normal; birth weight 50th; weight SD +1, length SD −1, OFC SD −1; neonatal hypotonia, feeding difficulties, gastro-oesophageal reflux; mild developmental delay; epilepsy; autistic features; no hyperlaxity; MRI brain small area of heterotopia; no high nasal bridge; no deep-set eyes; no wide mouth; no widely spaced central incisors; no thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326497"	"00198"	"00436317"	"00006"	"Isolated (sporadic)"	"8y"	"see paper; ..., pregnancy normal; birth weight 60th, length 70th, OFC 30th; weight SD 0, length SD 0, OFC SD 0; neonatal period normal; intellectual disability; staring spells; autistic features; no hyperlaxity; MRI brain normal; no high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326498"	"00198"	"00436318"	"00006"	"Isolated (sporadic)"	"8y"	"see paper; ..., pregnancy normal; birth weight 3rd; weight SD 0, length SD 0, OFC SD +1; neonatal period normal; mild intellectual disability; epilepsy; autistic features; no hyperlaxity; MRI brain Chiari I; no high nasal bridge; deep-set eyes; wide mouth; no widely spaced central incisors; no thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326499"	"00198"	"00436319"	"00006"	"Isolated (sporadic)"	"3y9m"	"see paper; ..., abnormal genitalia; birth weight 30th, length 20th, OFC 75th; weight SD 0, length SD −1, OFC SD −0.5; neonatal hypotonia, feeding difficulties; mild intellectual disability; no epilepsy; no autistic features; no hyperlaxity; MRI brain normal; no high nasal bridge; deep-set eyes; wide mouth; widely spaced central incisors; no thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326500"	"00198"	"00436320"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., pregnancy normal; birth weight 90th; weight SD −1, length SD 0, OFC SD 1; gastro-oesophageal reflux, feeding difficulties; mild developmental delay; no epilepsy; no autistic features; hyperlaxity; MRI brain normal; no high nasal bridge; deep-set eyes; wide mouth; widely spaced central incisors; no thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326501"	"00198"	"00436321"	"00006"	"Isolated (sporadic)"	"15y"	"see paper; ..., pregnancy normal; birth weight 50th; length SD 0, OFC SD −1; neonatal vomiting; severe intellectual disability; no epilepsy; autistic features; no hyperlaxity; no high nasal bridge; no deep-set eyes; no wide mouth; no widely spaced central incisors; no thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000326502"	"00198"	"00436322"	"00006"	"Isolated (sporadic)"	"3y"	"see paper; ..., pregnancy normal; birth weight 75th, length 75th, OFC 10th; weight SD +1.5, length SD +1.5, OFC SD −1; neonatal hypotonia; moderate intellectual disability; epilepsy; autistic features; hyperlaxity; MRI brain normal; no high nasal bridge; no deep-set eyes; wide mouth; no widely spaced central incisors; thin eyebrows"	""	""	""	""	""	""	""	""	""	"cohesinopathy"	"intellectual disability"	""
"0000350691"	"06577"	"00464708"	"04635"	"Isolated (sporadic)"	"03y"	"developmental delay, growth retardation, motor and speech delay"	"01y"	"03y"	"1y"	""	""	""	""	""	""	""	"developmental delay"	""


## Screenings ## Do not remove or alter this header ##
## Count = 40
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000024226"	"00019901"	"1"	"00006"	"00006"	"2014-11-08 12:57:14"	"00006"	"2014-11-08 13:14:02"	"arraySNP;SEQ;SEQ-NG"	"DNA"	""	""
"0000227220"	"00226144"	"1"	"01807"	"01807"	"2019-02-28 11:32:06"	""	""	"SEQ"	"DNA"	""	""
"0000249587"	"00248483"	"1"	"01164"	"01164"	"2019-07-24 12:04:31"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000302384"	"00301261"	"1"	"03512"	"03512"	"2020-05-11 20:47:22"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000377328"	"00376132"	"1"	"03288"	"03288"	"2021-06-16 15:43:09"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000433271"	"00431832"	"1"	"01164"	"01164"	"2023-02-16 15:57:49"	""	""	"SEQ-NG-H"	"DNA"	""	""
"0000436953"	"00435474"	"1"	"01164"	"01164"	"2023-07-31 17:07:11"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000437763"	"00436280"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437764"	"00436281"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437765"	"00436282"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437766"	"00436283"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437767"	"00436284"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437768"	"00436285"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437769"	"00436286"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437770"	"00436287"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437771"	"00436288"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437772"	"00436289"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437773"	"00436290"	"1"	"00006"	"00006"	"2023-08-31 19:48:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000437776"	"00436293"	"1"	"00006"	"00006"	"2023-08-31 23:02:18"	""	""	"SEQ-NG"	"DNA"	""	""
"0000437777"	"00436294"	"1"	"00006"	"00006"	"2023-08-31 23:02:18"	""	""	"SEQ-NG"	"DNA"	""	""
"0000437778"	"00436295"	"1"	"00006"	"00006"	"2023-08-31 23:02:18"	""	""	"SEQ-NG"	"DNA"	""	""
"0000437789"	"00436306"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"arrayCGH"	"DNA"	""	""
"0000437790"	"00436307"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"arrayCGH"	"DNA"	""	""
"0000437791"	"00436308"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000437792"	"00436309"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"arrayCGH"	"DNA"	""	""
"0000437793"	"00436310"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"arrayCGH"	"DNA"	""	""
"0000437794"	"00436311"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"arrayCGH"	"DNA"	""	""
"0000437795"	"00436312"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"arrayCGH"	"DNA"	""	""
"0000437796"	"00436313"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000437797"	"00436314"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000437798"	"00436315"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000437799"	"00436316"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000437800"	"00436317"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000437801"	"00436318"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000437802"	"00436319"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000437803"	"00436320"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000437804"	"00436321"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000437805"	"00436322"	"1"	"00006"	"00006"	"2023-09-01 15:10:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000466356"	"00464708"	"1"	"04635"	"04635"	"2025-04-14 03:29:24"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{geneid}}"
"0000024226"	"PCCB"
"0000024226"	"STAG1"
"0000377328"	"STAG1"
"0000433271"	"STAG1"
"0000436953"	"STAG1"
"0000466356"	"STAG1"


## 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 = 158
"{{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}}"
"0000003902"	"0"	"50"	"3"	"136328665"	"136328665"	"subst"	"0"	"00037"	"STAG1_000001"	"g.136328665G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.136609823G>C"	""	"VUS"	""
"0000046774"	"0"	"90"	"3"	"136003363"	"136385607"	"del"	"0"	"00006"	"STAG1_000002"	"g.136003363_136385607del"	""	"{PMID:Gilissen 2014:24896178}"	""	""	"likely associated with ID phenotype"	"De novo"	""	""	"0"	""	""	"g.136284521_136666765del"	""	"pathogenic"	""
"0000046776"	"0"	"30"	"3"	"136385643"	"136385688"	"del"	"0"	"00006"	"STAG1_000003"	"g.136385643_136385688del"	""	"{PMID:Gilissen 2014:24896178}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.136666801_136666846del"	""	"likely benign"	""
"0000046777"	"0"	"30"	"3"	"136385737"	"136385739"	"del"	"0"	"00006"	"STAG1_000004"	"g.136385737_136385739del"	""	"{PMID:Gilissen 2014:24896178}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.136666895_136666897del"	""	"likely benign"	""
"0000246183"	"0"	"50"	"3"	"136045699"	"136045699"	"subst"	"1.21866E-5"	"02330"	"PCCB_000109"	"g.136045699A>G"	""	""	""	"PCCB(NM_001178014.2):c.1205A>G (p.D402G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136326857A>G"	""	"VUS"	""
"0000249745"	"0"	"50"	"3"	"135980794"	"135980794"	"subst"	"1.90954E-5"	"02325"	"PCCB_000106"	"g.135980794A>G"	""	""	""	"PCCB(NM_001178014.2):c.490A>G (p.I164V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136261952A>G"	""	"VUS"	""
"0000293439"	"0"	"70"	"3"	"136035883"	"136035883"	"subst"	"0"	"02330"	"PCCB_000108"	"g.136035883G>A"	""	""	""	"PCCB(NM_001178014.2):c.1127G>A (p.G376D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136317041G>A"	""	"likely pathogenic"	""
"0000293440"	"0"	"30"	"3"	"136047691"	"136047691"	"subst"	"0.00204052"	"02330"	"PCCB_000020"	"g.136047691C>T"	""	""	""	"PCCB(NM_000532.5):c.1490C>T (p.A497V), PCCB(NM_001178014.1):c.1550C>T (p.A517V), PCCB(NM_001178014.2):c.1550C>T (p.A517V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136328849C>T"	""	"likely benign"	""
"0000293441"	"0"	"10"	"3"	"136002809"	"136002809"	"subst"	"0.160088"	"02330"	"PCCB_000088"	"g.136002809T>C"	""	""	""	"PCCB(NM_001178014.2):c.714+20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136283967T>C"	""	"benign"	""
"0000296782"	"0"	"50"	"3"	"136016845"	"136016845"	"subst"	"0.00196961"	"02325"	"PCCB_000107"	"g.136016845G>A"	""	""	""	"PCCB(NM_000532.4):c.815G>A (p.(Arg272Gln)), PCCB(NM_000532.5):c.815G>A (p.R272Q), PCCB(NM_001178014.1):c.875G>A (p.R292Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136298003G>A"	""	"VUS"	""
"0000305070"	"0"	"90"	"3"	"136046017"	"136046017"	"subst"	"2.44123E-5"	"01943"	"PCCB_000111"	"g.136046017G>A"	""	""	""	"PCCB(NM_001178014.1):c.1279G>A (p.G427S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136327175G>A"	""	"pathogenic"	""
"0000305071"	"0"	"90"	"3"	"136046021"	"136046021"	"del"	"2.44119E-5"	"01943"	"PCCB_000112"	"g.136046021del"	""	""	""	"PCCB(NM_001178014.1):c.1283delT (p.I428Tfs*35)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136327179del"	""	"pathogenic"	""
"0000305072"	"0"	"90"	"3"	"136046024"	"136046026"	"del"	"0"	"01943"	"PCCB_000113"	"g.136046024_136046026del"	""	""	""	"PCCB(NM_001178014.1):c.1286_1288delTCC (p.I429del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136327182_136327184del"	""	"pathogenic"	""
"0000305073"	"0"	"90"	"3"	"136046029"	"136046029"	"subst"	"2.8477E-5"	"01943"	"PCCB_000114"	"g.136046029C>A"	""	""	""	"PCCB(NM_001178014.1):c.1291C>A (p.H431N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136327187C>A"	""	"pathogenic"	""
"0000305074"	"0"	"50"	"3"	"135974783"	"135974783"	"subst"	"0"	"01943"	"PCCB_000105"	"g.135974783G>A"	""	""	""	"PCCB(NM_001178014.1):c.269G>A (p.C90Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136255941G>A"	""	"VUS"	""
"0000311577"	"0"	"10"	"3"	"136088038"	"136088038"	"subst"	"0.29703"	"02325"	"STAG1_000005"	"g.136088038G>A"	""	""	""	"STAG1(NM_005862.3):c.2457C>T (p.F819=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136369196G>A"	""	"benign"	""
"0000313194"	"0"	"50"	"3"	"136341992"	"136341992"	"subst"	"0"	"02329"	"STAG1_000006"	"g.136341992G>C"	""	""	""	"STAG1(NM_005862.3):c.128C>G (p.P43R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136623150G>C"	""	"VUS"	""
"0000329635"	"0"	"50"	"3"	"135969375"	"135969375"	"subst"	"0"	"01804"	"PCCB_000104"	"g.135969375G>A"	""	""	""	"PCCB(NM_000532.4):c.158G>A (p.(Arg53His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136250533G>A"	""	"VUS"	""
"0000461272"	"0"	"70"	"3"	"136059446"	"136059446"	"subst"	"0"	"01807"	"STAG1_000007"	"g.136059446G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.136340604G>A"	""	"likely pathogenic"	""
"0000518040"	"0"	"30"	"3"	"135969266"	"135969266"	"subst"	"0.00154264"	"01943"	"PCCB_000036"	"g.135969266C>A"	""	""	""	"PCCB(NM_001178014.1):c.49C>A (p.L17M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136250424C>A"	""	"likely benign"	""
"0000518041"	"0"	"30"	"3"	"135969266"	"135969266"	"subst"	"0.00154264"	"02326"	"PCCB_000036"	"g.135969266C>A"	""	""	""	"PCCB(NM_001178014.1):c.49C>A (p.L17M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136250424C>A"	""	"likely benign"	""
"0000518042"	"0"	"30"	"3"	"135969382"	"135969382"	"subst"	"0"	"01943"	"STAG1_000008"	"g.135969382T>C"	""	""	""	"PCCB(NM_001178014.1):c.165T>C (p.I55=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136250540T>C"	""	"likely benign"	""
"0000518043"	"0"	"30"	"3"	"135969417"	"135969417"	"subst"	"3.14186E-5"	"02330"	"STAG1_000009"	"g.135969417C>T"	""	""	""	"PCCB(NM_001178014.2):c.183+17C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136250575C>T"	""	"likely benign"	""
"0000518044"	"0"	"50"	"3"	"135974776"	"135974776"	"subst"	"0"	"01804"	"STAG1_000010"	"g.135974776C>A"	""	""	""	"PCCB(NM_000532.4):c.262C>A (p.(His88Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136255934C>A"	""	"VUS"	""
"0000518045"	"0"	"30"	"3"	"135974825"	"135974825"	"subst"	"0.000203032"	"02326"	"STAG1_000011"	"g.135974825T>A"	""	""	""	"PCCB(NM_001178014.1):c.303+8T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136255983T>A"	""	"likely benign"	""
"0000518046"	"0"	"10"	"3"	"135978029"	"135978029"	"subst"	"0.00255444"	"02330"	"STAG1_000012"	"g.135978029C>T"	""	""	""	"PCCB(NM_001178014.2):c.384C>T (p.G128=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136259187C>T"	""	"benign"	""
"0000518047"	"0"	"90"	"3"	"135980857"	"135980857"	"subst"	"0"	"01804"	"PCCB_000011"	"g.135980857C>T"	""	""	""	"PCCB(NM_000532.4):c.493C>T (p.(Arg165Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136262015C>T"	""	"pathogenic"	""
"0000518048"	"0"	"10"	"3"	"136002681"	"136002681"	"subst"	"0.00122266"	"02330"	"STAG1_000013"	"g.136002681G>A"	""	""	""	"PCCB(NM_000532.5):c.546G>A (p.R182=), PCCB(NM_001178014.2):c.606G>A (p.R202=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136283839G>A"	""	"benign"	""
"0000518049"	"0"	"50"	"3"	"136016845"	"136016845"	"subst"	"0.00196961"	"01943"	"PCCB_000107"	"g.136016845G>A"	""	""	""	"PCCB(NM_000532.4):c.815G>A (p.(Arg272Gln)), PCCB(NM_000532.5):c.815G>A (p.R272Q), PCCB(NM_001178014.1):c.875G>A (p.R292Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136298003G>A"	""	"VUS"	""
"0000518050"	"0"	"30"	"3"	"136016845"	"136016845"	"subst"	"0.00196961"	"01804"	"PCCB_000107"	"g.136016845G>A"	""	""	""	"PCCB(NM_000532.4):c.815G>A (p.(Arg272Gln)), PCCB(NM_000532.5):c.815G>A (p.R272Q), PCCB(NM_001178014.1):c.875G>A (p.R292Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136298003G>A"	""	"likely benign"	""
"0000518051"	"0"	"50"	"3"	"136019898"	"136019898"	"subst"	"0.000613268"	"01943"	"STAG1_000014"	"g.136019898C>T"	""	""	""	"PCCB(NM_000532.5):c.911C>T (p.(Thr304Ile)), PCCB(NM_001178014.1):c.971C>T (p.T324I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136301056C>T"	""	"VUS"	""
"0000518052"	"0"	"90"	"3"	"136046015"	"136046016"	"ins"	"0"	"01943"	"STAG1_000015"	"g.136046015_136046016insTA"	""	""	""	"PCCB(NM_001178014.1):c.1277_1278insTA (p.G427Rfs*37)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136327173_136327174insTA"	""	"pathogenic"	""
"0000518053"	"0"	"10"	"3"	"136046106"	"136046106"	"subst"	"0.000622969"	"02330"	"STAG1_000016"	"g.136046106C>A"	""	""	""	"PCCB(NM_001178014.2):c.1359+9C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136327264C>A"	""	"benign"	""
"0000518055"	"0"	"10"	"3"	"136047686"	"136047686"	"subst"	"8.5361E-5"	"02330"	"STAG1_000018"	"g.136047686T>G"	""	""	""	"PCCB(NM_001178014.2):c.1545T>G (p.P515=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136328844T>G"	""	"benign"	""
"0000518056"	"0"	"30"	"3"	"136047691"	"136047691"	"subst"	"0.00204052"	"01943"	"PCCB_000020"	"g.136047691C>T"	""	""	""	"PCCB(NM_000532.5):c.1490C>T (p.A497V), PCCB(NM_001178014.1):c.1550C>T (p.A517V), PCCB(NM_001178014.2):c.1550C>T (p.A517V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136328849C>T"	""	"likely benign"	""
"0000518057"	"0"	"30"	"3"	"136047691"	"136047691"	"subst"	"0.00204052"	"02326"	"PCCB_000020"	"g.136047691C>T"	""	""	""	"PCCB(NM_000532.5):c.1490C>T (p.A497V), PCCB(NM_001178014.1):c.1550C>T (p.A517V), PCCB(NM_001178014.2):c.1550C>T (p.A517V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136328849C>T"	""	"likely benign"	""
"0000578386"	"0"	"90"	"3"	"136221469"	"136221469"	"subst"	"0"	"01164"	"STAG1_000021"	"g.136221469C>T"	""	""	""	""	"ACMG grading: PVS1, PM2, PP3 (Lehalle  2017. J Med Genet 54:479)"	"Germline"	""	""	"0"	""	""	"g.136502627C>T"	""	"pathogenic"	"ACMG"
"0000608339"	"0"	"50"	"3"	"135969363"	"135969363"	"subst"	"0"	"01804"	"STAG1_000022"	"g.135969363G>C"	""	""	""	"PCCB(NM_000532.4):c.146G>C (p.(Gly49Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136250521G>C"	""	"VUS"	""
"0000608340"	"0"	"70"	"3"	"135969390"	"135969390"	"subst"	"4.27131E-6"	"02327"	"STAG1_000023"	"g.135969390A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136250548A>C"	""	"likely pathogenic"	""
"0000608341"	"0"	"50"	"3"	"135974764"	"135974764"	"subst"	"0.000158361"	"02327"	"STAG1_000024"	"g.135974764A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136255922A>G"	""	"VUS"	""
"0000608342"	"0"	"50"	"3"	"136002730"	"136002730"	"subst"	"0.00103968"	"01943"	"STAG1_000025"	"g.136002730C>T"	""	""	""	"PCCB(NM_000532.5):c.595C>T (p.(Pro199Ser)), PCCB(NM_001178014.1):c.655C>T (p.P219S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136283888C>T"	""	"VUS"	""
"0000608343"	"0"	"70"	"3"	"136002746"	"136002746"	"subst"	"2.8428E-5"	"02327"	"PCCB_000102"	"g.136002746C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136283904C>T"	""	"likely pathogenic"	""
"0000608345"	"0"	"70"	"3"	"136016902"	"136016902"	"subst"	"0.00134019"	"02330"	"PCCB_000092"	"g.136016902G>A"	""	""	""	"PCCB(NM_000532.4):c.872G>A (p.C291Y), PCCB(NM_001178014.1):c.932G>A (p.C311Y), PCCB(NM_001178014.2):c.932G>A (p.C311Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136298060G>A"	""	"likely pathogenic"	""
"0000654811"	"0"	"90"	"3"	"136002719"	"136002719"	"del"	"0"	"01943"	"STAG1_000027"	"g.136002719del"	""	""	""	"PCCB(NM_001178014.1):c.644delT (p.L215Rfs*16)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136283877del"	""	"pathogenic"	""
"0000654812"	"0"	"30"	"3"	"136047711"	"136047712"	"del"	"0"	"01943"	"STAG1_000028"	"g.136047711_136047712del"	""	""	""	"PCCB(NM_001178014.1):c.1558+12_1558+13delTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136328869_136328870del"	""	"likely benign"	""
"0000665618"	"0"	"50"	"3"	"136183747"	"136183747"	"subst"	"0"	"03512"	"STAG1_000029"	"g.136183747G>A"	""	"{PMID:Minardi 2020:32725632}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136464905G>A"	""	"VUS"	""
"0000676833"	"0"	"70"	"3"	"135980866"	"135980866"	"subst"	"0"	"02325"	"PCCB_000019"	"g.135980866G>A"	""	""	""	"PCCB(NM_001178014.2):c.562G>A (p.E188K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000676834"	"0"	"30"	"3"	"136016845"	"136016845"	"subst"	"0.00196961"	"02327"	"PCCB_000107"	"g.136016845G>A"	""	""	""	"PCCB(NM_000532.4):c.815G>A (p.(Arg272Gln)), PCCB(NM_000532.5):c.815G>A (p.R272Q), PCCB(NM_001178014.1):c.875G>A (p.R292Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676835"	"0"	"70"	"3"	"136016902"	"136016902"	"subst"	"0.00134019"	"02327"	"PCCB_000092"	"g.136016902G>A"	""	""	""	"PCCB(NM_000532.4):c.872G>A (p.C291Y), PCCB(NM_001178014.1):c.932G>A (p.C311Y), PCCB(NM_001178014.2):c.932G>A (p.C311Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000676836"	"0"	"70"	"3"	"136048756"	"136048756"	"subst"	"4.06643E-6"	"02325"	"STAG1_000030"	"g.136048756A>G"	""	""	""	"PCCB(NM_000532.5):c.1508A>G (p.D503G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000676837"	"0"	"50"	"3"	"136323183"	"136323183"	"subst"	"0"	"01943"	"STAG1_000031"	"g.136323183C>G"	""	""	""	"STAG1(NM_005862.3):c.265G>C (p.E89Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688951"	"0"	"50"	"3"	"135975431"	"135975431"	"subst"	"0.000337042"	"02326"	"STAG1_000032"	"g.135975431G>A"	""	""	""	"PCCB(NM_001178014.1):c.338G>A (p.R113Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688952"	"0"	"30"	"3"	"135978092"	"135978092"	"subst"	"0.000291764"	"02326"	"STAG1_000033"	"g.135978092T>C"	""	""	""	"PCCB(NM_001178014.1):c.432+15T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688953"	"0"	"10"	"3"	"136002809"	"136002809"	"subst"	"0.160088"	"02327"	"PCCB_000088"	"g.136002809T>C"	""	""	""	"PCCB(NM_001178014.2):c.714+20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000688954"	"0"	"50"	"3"	"136016902"	"136016902"	"subst"	"0.00134019"	"02326"	"PCCB_000092"	"g.136016902G>A"	""	""	""	"PCCB(NM_000532.4):c.872G>A (p.C291Y), PCCB(NM_001178014.1):c.932G>A (p.C311Y), PCCB(NM_001178014.2):c.932G>A (p.C311Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688955"	"0"	"50"	"3"	"136016902"	"136016902"	"subst"	"0.00134019"	"01943"	"PCCB_000092"	"g.136016902G>A"	""	""	""	"PCCB(NM_000532.4):c.872G>A (p.C291Y), PCCB(NM_001178014.1):c.932G>A (p.C311Y), PCCB(NM_001178014.2):c.932G>A (p.C311Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688956"	"0"	"50"	"3"	"136046086"	"136046086"	"subst"	"0"	"02326"	"PCCB_000041"	"g.136046086A>C"	""	""	""	"PCCB(NM_001178014.1):c.1348A>C (p.I450L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688957"	"0"	"30"	"3"	"136047691"	"136047691"	"subst"	"0.00204052"	"02325"	"PCCB_000020"	"g.136047691C>T"	""	""	""	"PCCB(NM_000532.5):c.1490C>T (p.A497V), PCCB(NM_001178014.1):c.1550C>T (p.A517V), PCCB(NM_001178014.2):c.1550C>T (p.A517V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719211"	"0"	"50"	"3"	"135975431"	"135975431"	"subst"	"0.000337042"	"02329"	"STAG1_000032"	"g.135975431G>A"	""	""	""	"PCCB(NM_001178014.1):c.338G>A (p.R113Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719212"	"0"	"50"	"3"	"136002776"	"136002776"	"subst"	"2.84331E-5"	"02325"	"STAG1_000034"	"g.136002776C>T"	""	""	""	"PCCB(NM_000532.5):c.641C>T (p.T214M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719213"	"0"	"50"	"3"	"136060343"	"136060343"	"subst"	"0"	"02329"	"STAG1_000019"	"g.136060343T>C"	""	""	""	"STAG1(NM_005862.3):c.3497A>G (p.N1166S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719214"	"0"	"50"	"3"	"136062770"	"136062770"	"subst"	"0"	"02329"	"STAG1_000035"	"g.136062770A>T"	""	""	""	"STAG1(NM_005862.3):c.3350T>A (p.L1117H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719215"	"0"	"30"	"3"	"136141704"	"136141704"	"subst"	"0.000132866"	"02325"	"STAG1_000036"	"g.136141704A>G"	""	""	""	"STAG1(NM_005862.3):c.1744-5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719216"	"0"	"70"	"3"	"136221612"	"136221612"	"subst"	"0"	"02329"	"STAG1_000037"	"g.136221612A>C"	""	""	""	"STAG1(NM_005862.3):c.686T>G (p.L229R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000719217"	"0"	"50"	"3"	"136240097"	"136240097"	"subst"	"0"	"02329"	"STAG1_000026"	"g.136240097C>G"	""	""	""	"STAG1(NM_005862.3):c.634G>C (p.D212H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719218"	"0"	"70"	"3"	"136261014"	"136261014"	"subst"	"0"	"02329"	"STAG1_000038"	"g.136261014G>A"	""	""	""	"STAG1(NM_005862.3):c.418C>T (p.R140*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000789637"	"0"	"70"	"3"	"136082229"	"136082230"	"del"	"0"	"03288"	"STAG1_000039"	"g.136082229_136082230del"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.136363387_136363388del"	""	"pathogenic (dominant)"	"ACMG"
"0000801013"	"0"	"30"	"3"	"135969299"	"135969299"	"subst"	"0.000233352"	"02326"	"STAG1_000040"	"g.135969299C>G"	""	""	""	"PCCB(NM_000532.5):c.82C>G (p.L28V), PCCB(NM_001178014.1):c.82C>G (p.L28V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801014"	"0"	"30"	"3"	"136016912"	"136016912"	"subst"	"0.000942247"	"01943"	"STAG1_000041"	"g.136016912C>T"	""	""	""	"PCCB(NM_000532.5):c.882C>T (p.P294=), PCCB(NM_001178014.1):c.942C>T (p.P314=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801015"	"0"	"50"	"3"	"136035820"	"136035820"	"subst"	"0"	"02325"	"STAG1_000042"	"g.136035820A>T"	""	""	""	"PCCB(NM_000532.5):c.1004A>T (p.N335I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000801016"	"0"	"50"	"3"	"136046014"	"136046014"	"subst"	"1.62713E-5"	"01943"	"STAG1_000043"	"g.136046014G>A"	""	""	""	"PCCB(NM_001178014.1):c.1276G>A (p.G426R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000801017"	"0"	"30"	"3"	"136047595"	"136047595"	"subst"	"8.1367E-6"	"01943"	"STAG1_000044"	"g.136047595C>T"	""	""	""	"PCCB(NM_001178014.1):c.1459-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801018"	"0"	"30"	"3"	"136219085"	"136219085"	"subst"	"0.00337702"	"01943"	"STAG1_000045"	"g.136219085A>G"	""	""	""	"STAG1(NM_005862.3):c.882T>C (p.G294=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850145"	"0"	"50"	"3"	"136012689"	"136012689"	"subst"	"1.2198E-5"	"01943"	"STAG1_000047"	"g.136012689C>T"	""	""	""	"PCCB(NM_001178014.1):c.806C>T (p.T269I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850146"	"0"	"30"	"3"	"136152451"	"136152451"	"subst"	"8.60193E-6"	"01943"	"STAG1_000049"	"g.136152451T>C"	""	""	""	"STAG1(NM_005862.3):c.1597A>G (p.I533V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850147"	"0"	"30"	"3"	"136240045"	"136240045"	"subst"	"0.000653216"	"01943"	"STAG1_000050"	"g.136240045A>G"	""	""	""	"STAG1(NM_005862.3):c.676+10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850148"	"0"	"30"	"3"	"136240268"	"136240268"	"subst"	"0.000662588"	"01943"	"STAG1_000052"	"g.136240268C>G"	""	""	""	"STAG1(NM_005862.3):c.472-9G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858812"	"0"	"30"	"3"	"135969299"	"135969299"	"subst"	"0.000233352"	"01943"	"STAG1_000040"	"g.135969299C>G"	""	""	""	"PCCB(NM_000532.5):c.82C>G (p.L28V), PCCB(NM_001178014.1):c.82C>G (p.L28V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858813"	"0"	"50"	"3"	"135978028"	"135978028"	"subst"	"0"	"01943"	"STAG1_000046"	"g.135978028G>T"	""	""	""	"PCCB(NM_001178014.1):c.383G>T (p.G128V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000858814"	"0"	"30"	"3"	"136141888"	"136141888"	"subst"	"0"	"02327"	"STAG1_000048"	"g.136141888T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858815"	"0"	"50"	"3"	"136240253"	"136240253"	"subst"	"0"	"01804"	"STAG1_000051"	"g.136240253C>T"	""	""	""	"STAG1(NM_005862.2):c.478G>A (p.(Gly160Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000885568"	"0"	"30"	"3"	"136002681"	"136002681"	"subst"	"0.00122266"	"02326"	"STAG1_000013"	"g.136002681G>A"	""	""	""	"PCCB(NM_000532.5):c.546G>A (p.R182=), PCCB(NM_001178014.2):c.606G>A (p.R202=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000885569"	"0"	"50"	"3"	"136068024"	"136068024"	"subst"	"0"	"02325"	"STAG1_000053"	"g.136068024G>A"	""	""	""	"STAG1(NM_005862.3):c.3247C>T (p.P1083S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000918914"	"0"	"50"	"3"	"136240058"	"136240058"	"subst"	"0"	"01164"	"STAG1_000054"	"g.136240058C>T"	""	""	""	""	"ACMG: PM2_SUP, PP2"	"Germline"	"?"	""	""	""	""	""	""	"VUS"	"ACMG"
"0000923844"	"0"	"50"	"3"	"136045691"	"136045691"	"subst"	"0"	"02326"	"STAG1_000055"	"g.136045691A>C"	""	""	""	"PCCB(NM_000532.5):c.1137A>C (p.R379S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928717"	"0"	"30"	"3"	"136016892"	"136016892"	"subst"	"0.000203061"	"02326"	"PCCB_000091"	"g.136016892G>A"	""	""	""	"PCCB(NM_000532.5):c.862G>A (p.V288I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000931664"	"0"	"70"	"3"	"136261014"	"136261014"	"subst"	"0"	"01164"	"STAG1_000038"	"g.136261014G>A"	""	""	""	""	"ACMG: PVS1, PS2_SUP, PM2_SUP, confirmed de novo in trio-exome (PMID:30158690)"	"De novo"	"-"	""	"0"	""	""	"g.136542172G>A"	"VCV002441671.1"	"pathogenic (dominant)"	"ACMG"
"0000933179"	"0"	"90"	"3"	"132105162"	"137103889"	"del"	"0"	"00006"	"STAG1_000056"	"g.(?_132105162)_(137103889_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:132105162-137103889"	"4,999 Mb deletion STAG1 and 26 other protein-coding genes"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933180"	"0"	"90"	"3"	"136451335"	"138248249"	"del"	"0"	"00006"	"STAG1_000076"	"g.(?_136451335)_(138248249_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:136451335-138248249"	"1,797 Mb deletion STAG1 and 13 other protein-coding genes"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933181"	"0"	"90"	"3"	"136109508"	"136413036"	"del"	"0"	"00006"	"STAG1_000060"	"g.(?_136109508)_(136413036_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:136109508-136413036"	"0,304 Mb deletion STAG1"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933182"	"0"	"90"	"3"	"136141180"	"136349736"	"del"	"0"	"00006"	"STAG1_000062"	"g.(?_136141180)_(136349736_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:136141180-136349736"	"0,209 Mb deletion STAG1"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933183"	"0"	"90"	"3"	"134445455"	"137487959"	"del"	"0"	"00006"	"STAG1_000056"	"g.(?_134445455)_(137487959_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:134445455-137487959"	"3,043 Mb deletion STAG1 and 8 other protein-coding genes"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933184"	"0"	"90"	"3"	"135470061"	"137567648"	"del"	"0"	"00006"	"STAG1_000056"	"g.(?_135470061)_(137567648_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:135470061-137567648"	"2,098 Mb deletion STAG1 and 7 other protein-coding genes"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933185"	"0"	"90"	"3"	"136035522"	"136412948"	"del"	"0"	"00006"	"STAG1_000058"	"g.(?_136035522)_(136412948_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:136035522-136412948"	"0,377 Mb deletion PCCB, STAG1"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933186"	"0"	"90"	"3"	"133143318"	"137314105"	"del"	"0"	"00006"	"STAG1_000056"	"g.(?_133143318)_(137314105_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:133143318-137314105"	"4,171 Mb deletion STAG1 and 20 other protein-coding genes"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933187"	"0"	"90"	"3"	"135062410"	"136360844"	"del"	"0"	"00006"	"STAG1_000057"	"g.(?_135062410)_(136360844_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:135062410-136360844"	"1,298 Mb deletion PPP2R3A, MSL2, PCCB, STAG1"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933188"	"0"	"90"	"3"	"135142319"	"136679992"	"del"	"0"	"00006"	"STAG1_000056"	"g.(?_135142319)_(136679992_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:135142319-136679992"	"1,538 Mb deletion STAG1 and 6 other protein-coding genes"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933189"	"0"	"90"	"3"	"132642704"	"136360844"	"del"	"0"	"00006"	"STAG1_000057"	"g.(?_132642704)_(136360844_?)del"	""	"{PMID:Yuan 2019:30158690}"	""	"del chr3:132642704-136360844"	"3,718 Mb deletion STAG1 and 18 other protein-coding genes"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933192"	"0"	"90"	"3"	"136141280"	"136141283"	"del"	"0"	"00006"	"STAG1_000063"	"g.136141280_136141283del"	""	"{PMID:Yuan 2019:30158690}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136422438_136422441del"	""	"pathogenic (dominant)"	""
"0000933193"	"0"	"90"	"3"	"136191331"	"136191331"	"subst"	"0"	"00006"	"STAG1_000067"	"g.136191331G>A"	""	"{PMID:Yuan 2019:30158690}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136472489G>A"	""	"pathogenic (dominant)"	""
"0000933194"	"0"	"70"	"3"	"136323195"	"136323195"	"subst"	"0"	"00006"	"STAG1_000075"	"g.136323195C>T"	""	"{PMID:Yuan 2019:30158690}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136604353C>T"	""	"VUS"	""
"0000933207"	"0"	"90"	"3"	"135979743"	"136510812"	"del"	"0"	"00006"	"STAG1_000056"	"g.(?_135979743)_(136510812_?)del"	""	"{PMID:Lehalle 2017:28119487}"	""	"del chr3: 135979743–136510812"	"3q deletion STAG1, PCCB"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933208"	"0"	"90"	"3"	"136035522"	"136412948"	"del"	"0"	"00006"	"STAG1_000056"	"g.(?_136035522)_(136412948_?)del"	""	"{PMID:Lehalle 2017:28119487}"	""	"del chr3: 136035522–136412948"	"3q deletion STAG1, PCCB"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933209"	"0"	"90"	"3"	"135983184"	"136383429"	"del"	"0"	"00006"	"STAG1_000056"	"g.(?_135983184)_(136383429_?)del"	""	"{PMID:Lehalle 2017:28119487}"	""	"del chr3: 135983184–136383429"	"3q deletion STAG1, PCCB"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933210"	"0"	"90"	"3"	"136109538"	"136310711"	"del"	"0"	"00006"	"STAG1_000061"	"g.(?_136109538)_(136310711_?)del"	""	"{PMID:Lehalle 2017:28119487}"	""	"del chr3: 136109538–136310711"	"intragenic STAG1 deletion absent in mother"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933211"	"21"	"90"	"3"	"136254742"	"136427833"	"del"	"0"	"00006"	"STAG1_000074"	"g.(?_136254742)_(136427833_?)del"	""	"{PMID:Lehalle 2017:28119487}"	""	"del chr3: 136254742–136427833"	"intragenic STAG1 deletion exons 2-5/6"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933212"	"21"	"90"	"3"	"136254742"	"136427833"	"del"	"0"	"00006"	"STAG1_000074"	"g.(?_136254742)_(136427833_?)del"	""	"{PMID:Lehalle 2017:28119487}"	""	"del chr3: 136254742–136427833"	"intragenic STAG1 deletion exons 2-5/6"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933213"	"0"	"90"	"3"	"135969755"	"136305476"	"del"	"0"	"00006"	"STAG1_000056"	"g.(?_135969755)_(136305476_?)del"	""	"{PMID:Lehalle 2017:28119487}"	""	"del chr3: 135969755–136305476"	"3q deletion STAG1, PCCB"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000933214"	"0"	"90"	"3"	"136240090"	"136240090"	"subst"	"0"	"00006"	"STAG1_000073"	"g.136240090T>C"	""	"{PMID:Lehalle 2017:28119487}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136521248T>C"	""	"pathogenic (dominant)"	""
"0000933215"	"0"	"90"	"3"	"136162242"	"136162242"	"subst"	"0"	"00006"	"STAG1_000066"	"g.136162242T>G"	""	"{PMID:Lehalle 2017:28119487}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136443400T>G"	""	"pathogenic (dominant)"	""
"0000933216"	"0"	"90"	"3"	"136240085"	"136240085"	"subst"	"0"	"00006"	"STAG1_000072"	"g.136240085T>C"	""	"{PMID:Lehalle 2017:28119487}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136521243T>C"	""	"pathogenic (dominant)"	""
"0000933217"	"0"	"90"	"3"	"136192388"	"136192388"	"subst"	"0"	"00006"	"STAG1_000068"	"g.136192388C>T"	""	"{PMID:Lehalle 2017:28119487}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136473546C>T"	""	"pathogenic (dominant)"	""
"0000933218"	"0"	"90"	"3"	"136162212"	"136162216"	"dup"	"0"	"00006"	"STAG1_000065"	"g.136162212_136162216dup"	""	"{PMID:Lehalle 2017:28119487}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136443370_136443374dup"	""	"pathogenic (dominant)"	""
"0000933219"	"0"	"90"	"3"	"136240072"	"136240072"	"subst"	"0"	"00006"	"STAG1_000071"	"g.136240072T>C"	""	"{PMID:Lehalle 2017:28119487}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136521230T>C"	""	"pathogenic (dominant)"	""
"0000933220"	"0"	"90"	"3"	"136196160"	"136196160"	"subst"	"0"	"00006"	"STAG1_000070"	"g.136196160T>G"	""	"{PMID:Lehalle 2017:28119487}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136477318T>G"	""	"pathogenic (dominant)"	""
"0000933221"	"0"	"90"	"3"	"136077990"	"136077990"	"subst"	"0"	"00006"	"STAG1_000059"	"g.136077990T>C"	""	"{PMID:Lehalle 2017:28119487}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136359148T>C"	""	"pathogenic (dominant)"	""
"0000933222"	"0"	"90"	"3"	"136192454"	"136192454"	"subst"	"0"	"00006"	"STAG1_000069"	"g.136192454A>C"	""	"{PMID:Lehalle 2017:28119487}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136473612A>C"	""	"pathogenic (dominant)"	""
"0000933223"	"0"	"90"	"3"	"136141801"	"136141801"	"dup"	"0"	"00006"	"STAG1_000064"	"g.136141801dup"	""	"{PMID:Lehalle 2017:28119487}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.136422959dup"	""	"pathogenic (dominant)"	""
"0000948038"	"0"	"30"	"3"	"135979384"	"135979384"	"subst"	"0.000591031"	"02327"	"STAG1_000077"	"g.135979384G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948039"	"0"	"30"	"3"	"136002674"	"136002674"	"subst"	"0.000162529"	"02326"	"STAG1_000078"	"g.136002674G>C"	""	""	""	"PCCB(NM_000532.5):c.544-5G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948040"	"0"	"30"	"3"	"136016912"	"136016912"	"subst"	"0.000942247"	"02326"	"STAG1_000041"	"g.136016912C>T"	""	""	""	"PCCB(NM_000532.5):c.882C>T (p.P294=), PCCB(NM_001178014.1):c.942C>T (p.P314=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948041"	"0"	"30"	"3"	"136062708"	"136062708"	"subst"	"0.000120605"	"02325"	"STAG1_000020"	"g.136062708A>T"	""	""	""	"STAG1(NM_005862.3):c.3412T>A (p.S1138T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948042"	"0"	"50"	"3"	"136141449"	"136141449"	"subst"	"0"	"02325"	"STAG1_000079"	"g.136141449C>G"	""	""	""	"STAG1(NM_005862.3):c.1840G>C (p.D614H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000962500"	"0"	"70"	"3"	"136240099"	"136240099"	"subst"	"0"	"02329"	"STAG1_000080"	"g.136240099G>C"	""	""	""	"STAG1(NM_005862.3):c.632C>G (p.S211*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000975594"	"0"	"50"	"3"	"135969325"	"135969325"	"subst"	"0"	"01804"	"STAG1_000081"	"g.135969325C>A"	""	""	""	"PCCB(NM_000532.5):c.108C>A (p.(Asn36Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975595"	"0"	"50"	"3"	"135974807"	"135974807"	"subst"	"0"	"01804"	"STAG1_000082"	"g.135974807A>G"	""	""	""	"PCCB(NM_000532.5):c.293A>G (p.(Asp98Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975596"	"0"	"50"	"3"	"136002781"	"136002781"	"subst"	"4.0621E-6"	"01804"	"STAG1_000083"	"g.136002781A>G"	""	""	""	"PCCB(NM_000532.5):c.646A>G (p.(Met216Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975597"	"0"	"50"	"3"	"136019898"	"136019898"	"subst"	"0.000613268"	"01804"	"STAG1_000014"	"g.136019898C>T"	""	""	""	"PCCB(NM_000532.5):c.911C>T (p.(Thr304Ile)), PCCB(NM_001178014.1):c.971C>T (p.T324I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975598"	"0"	"50"	"3"	"136035822"	"136035822"	"subst"	"0"	"01804"	"STAG1_000084"	"g.136035822T>C"	""	""	""	"PCCB(NM_000532.5):c.1006T>C (p.(Tyr336His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975599"	"0"	"30"	"3"	"136149761"	"136149762"	"dup"	"0"	"01804"	"STAG1_000085"	"g.136149761_136149762dup"	""	""	""	"STAG1(NM_005862.3):c.1650+2645_1650+2646dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975600"	"0"	"30"	"3"	"136160023"	"136160023"	"subst"	"0"	"01804"	"STAG1_000086"	"g.136160023C>T"	""	""	""	"STAG1(NM_005862.3):c.1546+2106G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975601"	"0"	"50"	"3"	"136196264"	"136196265"	"del"	"0"	"02325"	"STAG1_000087"	"g.136196264_136196265del"	""	""	""	"STAG1(NM_005862.3):c.903-4_903-3delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975602"	"0"	"30"	"3"	"136237679"	"136237679"	"subst"	"0"	"01804"	"STAG1_000088"	"g.136237679A>C"	""	""	""	"STAG1(NM_005862.3):c.676+2376T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975603"	"0"	"50"	"3"	"136323207"	"136323207"	"subst"	"0"	"01804"	"STAG1_000089"	"g.136323207C>T"	""	""	""	"STAG1(NM_005862.3):c.241G>A (p.(Glu81Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975604"	"0"	"50"	"3"	"136345007"	"136345007"	"subst"	"0"	"01804"	"STAG1_000090"	"g.136345007T>C"	""	""	""	"STAG1(NM_005862.3):c.30-2917A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993315"	"0"	"70"	"3"	"136077995"	"136077999"	"del"	"0"	"01804"	"STAG1_000091"	"g.136077995_136077999del"	""	""	""	"STAG1(NM_005862.2):c.2930_2934delTTCAC (p.(Leu977fs))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000993316"	"0"	"50"	"3"	"136088050"	"136088050"	"subst"	"1.26156E-5"	"01804"	"STAG1_000092"	"g.136088050C>G"	""	""	""	"STAG1(NM_005862.2):c.2445G>C (p.(Gln815His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993317"	"0"	"30"	"3"	"136136753"	"136136753"	"subst"	"0"	"01804"	"STAG1_000093"	"g.136136753T>C"	""	""	""	"STAG1(NM_005862.2):c.2170A>G (p.(Ile724Val)), STAG1(NM_005862.3):c.2170A>G (p.I724V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993318"	"0"	"30"	"3"	"136136813"	"136136813"	"subst"	"4.06951E-6"	"01804"	"STAG1_000094"	"g.136136813C>T"	""	""	""	"STAG1(NM_005862.2):c.2110G>A (p.(Ala704Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993319"	"0"	"30"	"3"	"136170978"	"136170978"	"subst"	"1.22005E-5"	"01804"	"STAG1_000095"	"g.136170978C>G"	""	""	""	"STAG1(NM_005862.2):c.1325G>C (p.(Arg442Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993320"	"0"	"50"	"3"	"136191327"	"136191327"	"subst"	"0"	"01804"	"STAG1_000096"	"g.136191327A>G"	""	""	""	"STAG1(NM_005862.2):c.1133T>C (p.(Ile378Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993321"	"0"	"50"	"3"	"136192440"	"136192440"	"subst"	"0"	"02329"	"STAG1_000097"	"g.136192440T>C"	""	""	""	"STAG1(NM_005862.3):c.1066A>G (p.S356G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993322"	"0"	"50"	"3"	"136196198"	"136196198"	"subst"	"4.07322E-6"	"01804"	"STAG1_000098"	"g.136196198T>G"	""	""	""	"STAG1(NM_005862.2):c.959A>C (p.(Lys320Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993323"	"0"	"50"	"3"	"136323192"	"136323192"	"subst"	"0"	"01804"	"STAG1_000099"	"g.136323192T>G"	""	""	""	"STAG1(NM_005862.2):c.256A>C (p.(Thr86Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993324"	"0"	"30"	"3"	"136342070"	"136342070"	"subst"	"4.06494E-5"	"01804"	"STAG1_000100"	"g.136342070G>A"	""	""	""	"STAG1(NM_005862.2):c.50C>T (p.(Thr17Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001013819"	"0"	"70"	"3"	"136046081"	"136046081"	"subst"	"2.44125E-5"	"02327"	"PCCB_000009"	"g.136046081C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001024725"	"0"	"50"	"3"	"136136753"	"136136753"	"subst"	"0"	"02325"	"STAG1_000093"	"g.136136753T>C"	""	""	""	"STAG1(NM_005862.2):c.2170A>G (p.(Ile724Val)), STAG1(NM_005862.3):c.2170A>G (p.I724V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001030317"	"0"	"70"	"3"	"136240230"	"136240230"	"dup"	"0"	"04635"	"STAG1_000101"	"g.136240230dup"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.136521388dup"	""	"likely pathogenic (dominant)"	"ACMG"
"0001033707"	"0"	"50"	"3"	"136002730"	"136002730"	"subst"	"0.00103968"	"01804"	"STAG1_000025"	"g.136002730C>T"	""	""	""	"PCCB(NM_000532.5):c.595C>T (p.(Pro199Ser)), PCCB(NM_001178014.1):c.655C>T (p.P219S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033708"	"0"	"50"	"3"	"136002748"	"136002748"	"subst"	"6.09226E-5"	"01804"	"STAG1_000102"	"g.136002748G>A"	""	""	""	"PCCB(NM_000532.5):c.613G>A (p.(Val205Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033709"	"0"	"50"	"3"	"136046554"	"136046554"	"subst"	"2.43778E-5"	"01804"	"STAG1_000103"	"g.136046554A>G"	""	""	""	"PCCB(NM_000532.5):c.1378A>G (p.(Ile460Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033710"	"0"	"50"	"3"	"136060314"	"136060314"	"subst"	"4.06481E-6"	"01804"	"STAG1_000104"	"g.136060314T>C"	""	""	""	"STAG1(NM_005862.3):c.3526A>G (p.(Met1176Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033711"	"0"	"50"	"3"	"136088027"	"136088029"	"dup"	"0"	"01804"	"STAG1_000105"	"g.136088027_136088029dup"	""	""	""	"STAG1(NM_005862.3):c.2467_2469dup (p.(Thr823dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033712"	"0"	"30"	"3"	"136103267"	"136103267"	"subst"	"0"	"01804"	"STAG1_000106"	"g.136103267C>A"	""	""	""	"STAG1(NM_005862.3):c.2278-6673G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033713"	"0"	"30"	"3"	"136139686"	"136139686"	"subst"	"0"	"01804"	"STAG1_000107"	"g.136139686G>A"	""	""	""	"STAG1(NM_005862.3):c.2108+249C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033714"	"0"	"30"	"3"	"136139931"	"136139931"	"subst"	"0.0040834"	"01804"	"STAG1_000108"	"g.136139931G>A"	""	""	""	"STAG1(NM_005862.3):c.2108+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033715"	"0"	"30"	"3"	"136338615"	"136338616"	"ins"	"0"	"01804"	"STAG1_000109"	"g.136338615_136338616insG"	""	""	""	"STAG1(NM_005862.3):c.132+3372_132+3373insC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033716"	"0"	"30"	"3"	"136463205"	"136463205"	"subst"	"0"	"01804"	"STAG1_000110"	"g.136463205T>C"	""	""	""	"STAG1(NM_005862.3):c.-84+7832A>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 STAG1
## Count = 158
"{{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}}"
"0000003902"	"00001630"	"50"	"133"	"-5350"	"133"	"-5350"	"c.133-5350C>G"	"r.(=)"	"p.(=)"	""
"0000046774"	"00001630"	"90"	"-83"	"-35784"	"57510"	"0"	"c.-83-35784_*53733del"	"r.0"	"p.0"	"all"
"0000046776"	"00001630"	"30"	"-83"	"-35862"	"-83"	"-35817"	"c.-83-35862_-83-35817del"	"r.(=)"	"p.(=)"	""
"0000046777"	"00001630"	"30"	"-83"	"-35911"	"-83"	"-35909"	"c.-83-35911_-83-35909del"	"r.(=)"	"p.(=)"	""
"0000246183"	"00001630"	"50"	"15174"	"0"	"15174"	"0"	"c.*11397T>C"	"r.(=)"	"p.(=)"	""
"0000249745"	"00001630"	"50"	"80079"	"0"	"80079"	"0"	"c.*76302T>C"	"r.(=)"	"p.(=)"	""
"0000293439"	"00001630"	"70"	"24990"	"0"	"24990"	"0"	"c.*21213C>T"	"r.(=)"	"p.(=)"	""
"0000293440"	"00001630"	"30"	"13182"	"0"	"13182"	"0"	"c.*9405G>A"	"r.(=)"	"p.(=)"	""
"0000293441"	"00001630"	"10"	"58064"	"0"	"58064"	"0"	"c.*54287A>G"	"r.(=)"	"p.(=)"	""
"0000296782"	"00001630"	"50"	"44028"	"0"	"44028"	"0"	"c.*40251C>T"	"r.(=)"	"p.(=)"	""
"0000305070"	"00001630"	"90"	"14856"	"0"	"14856"	"0"	"c.*11079C>T"	"r.(=)"	"p.(=)"	""
"0000305071"	"00001630"	"90"	"14852"	"0"	"14852"	"0"	"c.*11075del"	"r.(?)"	"p.(=)"	""
"0000305072"	"00001630"	"90"	"14847"	"0"	"14849"	"0"	"c.*11070_*11072del"	"r.(=)"	"p.(=)"	""
"0000305073"	"00001630"	"90"	"14844"	"0"	"14844"	"0"	"c.*11067G>T"	"r.(=)"	"p.(=)"	""
"0000305074"	"00001630"	"50"	"86090"	"0"	"86090"	"0"	"c.*82313C>T"	"r.(=)"	"p.(=)"	""
"0000311577"	"00001630"	"10"	"2457"	"0"	"2457"	"0"	"c.2457C>T"	"r.(?)"	"p.(Phe819=)"	""
"0000313194"	"00001630"	"50"	"128"	"0"	"128"	"0"	"c.128C>G"	"r.(?)"	"p.(Pro43Arg)"	""
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"0000518052"	"00001630"	"90"	"14857"	"0"	"14858"	"0"	"c.*11080_*11081insTA"	"r.(=)"	"p.(=)"	""
"0000518053"	"00001630"	"10"	"14767"	"0"	"14767"	"0"	"c.*10990G>T"	"r.(=)"	"p.(=)"	""
"0000518055"	"00001630"	"10"	"13187"	"0"	"13187"	"0"	"c.*9410A>C"	"r.(=)"	"p.(=)"	""
"0000518056"	"00001630"	"30"	"13182"	"0"	"13182"	"0"	"c.*9405G>A"	"r.(=)"	"p.(=)"	""
"0000518057"	"00001630"	"30"	"13182"	"0"	"13182"	"0"	"c.*9405G>A"	"r.(=)"	"p.(=)"	""
"0000578386"	"00001630"	"90"	"828"	"1"	"828"	"1"	"c.828+1G>A"	"r.spl"	"p.?"	""
"0000608339"	"00001630"	"50"	"91510"	"0"	"91510"	"0"	"c.*87733C>G"	"r.(=)"	"p.(=)"	""
"0000608340"	"00001630"	"70"	"91483"	"0"	"91483"	"0"	"c.*87706T>G"	"r.(=)"	"p.(=)"	""
"0000608341"	"00001630"	"50"	"86109"	"0"	"86109"	"0"	"c.*82332T>C"	"r.(=)"	"p.(=)"	""
"0000608342"	"00001630"	"50"	"58143"	"0"	"58143"	"0"	"c.*54366G>A"	"r.(=)"	"p.(=)"	""
"0000608343"	"00001630"	"70"	"58127"	"0"	"58127"	"0"	"c.*54350G>A"	"r.(=)"	"p.(=)"	""
"0000608345"	"00001630"	"70"	"43971"	"0"	"43971"	"0"	"c.*40194C>T"	"r.(=)"	"p.(=)"	""
"0000654811"	"00001630"	"90"	"58154"	"0"	"58154"	"0"	"c.*54377del"	"r.(?)"	"p.(=)"	""
"0000654812"	"00001630"	"30"	"13163"	"0"	"13164"	"0"	"c.*9386_*9387del"	"r.(=)"	"p.(=)"	""
"0000665618"	"00001630"	"50"	"1289"	"0"	"1289"	"0"	"c.1289C>T"	"r.(?)"	"p.(Ala430Val)"	""
"0000676833"	"00001630"	"70"	"80007"	"0"	"80007"	"0"	"c.*76230C>T"	"r.(=)"	"p.(=)"	""
"0000676834"	"00001630"	"30"	"44028"	"0"	"44028"	"0"	"c.*40251C>T"	"r.(=)"	"p.(=)"	""
"0000676835"	"00001630"	"70"	"43971"	"0"	"43971"	"0"	"c.*40194C>T"	"r.(=)"	"p.(=)"	""
"0000676836"	"00001630"	"70"	"12117"	"0"	"12117"	"0"	"c.*8340T>C"	"r.(=)"	"p.(=)"	""
"0000676837"	"00001630"	"50"	"265"	"0"	"265"	"0"	"c.265G>C"	"r.(?)"	"p.(Glu89Gln)"	""
"0000688951"	"00001630"	"50"	"85442"	"0"	"85442"	"0"	"c.*81665C>T"	"r.(=)"	"p.(=)"	""
"0000688952"	"00001630"	"30"	"82781"	"0"	"82781"	"0"	"c.*79004A>G"	"r.(=)"	"p.(=)"	""
"0000688953"	"00001630"	"10"	"58064"	"0"	"58064"	"0"	"c.*54287A>G"	"r.(=)"	"p.(=)"	""
"0000688954"	"00001630"	"50"	"43971"	"0"	"43971"	"0"	"c.*40194C>T"	"r.(=)"	"p.(=)"	""
"0000688955"	"00001630"	"50"	"43971"	"0"	"43971"	"0"	"c.*40194C>T"	"r.(=)"	"p.(=)"	""
"0000688956"	"00001630"	"50"	"14787"	"0"	"14787"	"0"	"c.*11010T>G"	"r.(=)"	"p.(=)"	""
"0000688957"	"00001630"	"30"	"13182"	"0"	"13182"	"0"	"c.*9405G>A"	"r.(=)"	"p.(=)"	""
"0000719211"	"00001630"	"50"	"85442"	"0"	"85442"	"0"	"c.*81665C>T"	"r.(=)"	"p.(=)"	""
"0000719212"	"00001630"	"50"	"58097"	"0"	"58097"	"0"	"c.*54320G>A"	"r.(=)"	"p.(=)"	""
"0000719213"	"00001630"	"50"	"3497"	"0"	"3497"	"0"	"c.3497A>G"	"r.(?)"	"p.(Asn1166Ser)"	""
"0000719214"	"00001630"	"50"	"3350"	"0"	"3350"	"0"	"c.3350T>A"	"r.(?)"	"p.(Leu1117His)"	""
"0000719215"	"00001630"	"30"	"1744"	"-5"	"1744"	"-5"	"c.1744-5T>C"	"r.spl?"	"p.?"	""
"0000719216"	"00001630"	"70"	"686"	"0"	"686"	"0"	"c.686T>G"	"r.(?)"	"p.(Leu229Arg)"	""
"0000719217"	"00001630"	"50"	"634"	"0"	"634"	"0"	"c.634G>C"	"r.(?)"	"p.(Asp212His)"	""
"0000719218"	"00001630"	"70"	"418"	"0"	"418"	"0"	"c.418C>T"	"r.(?)"	"p.(Arg140*)"	""
"0000789637"	"00001630"	"70"	"2768"	"0"	"2769"	"0"	"c.2768_2769del"	"r.(?)"	"p.(Leu923Hisfs*9)"	"26"
"0000801013"	"00001630"	"30"	"91574"	"0"	"91574"	"0"	"c.*87797G>C"	"r.(=)"	"p.(=)"	""
"0000801014"	"00001630"	"30"	"43961"	"0"	"43961"	"0"	"c.*40184G>A"	"r.(=)"	"p.(=)"	""
"0000801015"	"00001630"	"50"	"25053"	"0"	"25053"	"0"	"c.*21276T>A"	"r.(=)"	"p.(=)"	""
"0000801016"	"00001630"	"50"	"14859"	"0"	"14859"	"0"	"c.*11082C>T"	"r.(=)"	"p.(=)"	""
"0000801017"	"00001630"	"30"	"13278"	"0"	"13278"	"0"	"c.*9501G>A"	"r.(=)"	"p.(=)"	""
"0000801018"	"00001630"	"30"	"882"	"0"	"882"	"0"	"c.882T>C"	"r.(?)"	"p.(Gly294=)"	""
"0000850145"	"00001630"	"50"	"48184"	"0"	"48184"	"0"	"c.*44407G>A"	"r.(=)"	"p.(=)"	""
"0000850146"	"00001630"	"30"	"1597"	"0"	"1597"	"0"	"c.1597A>G"	"r.(?)"	"p.(Ile533Val)"	""
"0000850147"	"00001630"	"30"	"676"	"10"	"676"	"10"	"c.676+10T>C"	"r.(=)"	"p.(=)"	""
"0000850148"	"00001630"	"30"	"472"	"-9"	"472"	"-9"	"c.472-9G>C"	"r.(=)"	"p.(=)"	""
"0000858812"	"00001630"	"30"	"91574"	"0"	"91574"	"0"	"c.*87797G>C"	"r.(=)"	"p.(=)"	""
"0000858813"	"00001630"	"50"	"82845"	"0"	"82845"	"0"	"c.*79068C>A"	"r.(=)"	"p.(=)"	""
"0000858814"	"00001630"	"30"	"1651"	"-2"	"1651"	"-2"	"c.1651-2A>G"	"r.spl?"	"p.?"	""
"0000858815"	"00001630"	"50"	"478"	"0"	"478"	"0"	"c.478G>A"	"r.(?)"	"p.(Gly160Ser)"	""
"0000885568"	"00001630"	"30"	"58192"	"0"	"58192"	"0"	"c.*54415C>T"	"r.(=)"	"p.(=)"	""
"0000885569"	"00001630"	"50"	"3247"	"0"	"3247"	"0"	"c.3247C>T"	"r.(?)"	"p.(Pro1083Ser)"	""
"0000918914"	"00001630"	"50"	"673"	"0"	"673"	"0"	"c.673G>A"	"r.(?)"	"p.(Ala225Thr)"	""
"0000923844"	"00001630"	"50"	"15182"	"0"	"15182"	"0"	"c.*11405T>G"	"r.(=)"	"p.(=)"	""
"0000928717"	"00001630"	"30"	"43981"	"0"	"43981"	"0"	"c.*40204C>T"	"r.(=)"	"p.(=)"	""
"0000931664"	"00001630"	"70"	"418"	"0"	"418"	"0"	"c.418C>T"	"r.(?)"	"p.(Arg140*)"	""
"0000933179"	"00001630"	"90"	""	"0"	""	"0"	"c.-292_*1097{0}"	"r.0?"	"p.0?"	"_1_34_"
"0000933180"	"00001630"	"90"	""	"0"	""	"0"	"c.-292_(?_-84+19702){0}"	"r.0?"	"p.0?"	"_1_1i"
"0000933181"	"00001630"	"90"	""	"0"	""	"0"	"c.(?_-84+58001)_*1097{0}"	"r.?"	"p.?"	"1i_34_"
"0000933182"	"00001630"	"90"	""	"0"	""	"0"	"c.(?_5)_*1097{0}"	"r.?"	"p.?"	"2_34_"
"0000933183"	"00001630"	"90"	""	"0"	""	"0"	"c.-292_*1097{0}"	"r.0?"	"p.0?"	"_1_34_"
"0000933184"	"00001630"	"90"	""	"0"	""	"0"	"c.-292_*1097{0}"	"r.0?"	"p.0?"	"_1_34_"
"0000933185"	"00001630"	"90"	""	"0"	""	"0"	"c.(?_-84+58089)_*1097{0}"	"r.?"	"p.?"	"1i_34_"
"0000933186"	"00001630"	"90"	""	"0"	""	"0"	"c.-292_*1097{0}"	"r.0?"	"p.0?"	"_1_34_"
"0000933187"	"00001630"	"90"	""	"0"	""	"0"	"c.(?_-83-11021)_*1097{0}"	"r.?"	"p.?"	"1i_34_"
"0000933188"	"00001630"	"90"	""	"0"	""	"0"	"c.-292_*1097{0}"	"r.0?"	"p.0?"	"_1_34_"
"0000933189"	"00001630"	"90"	""	"0"	""	"0"	"c.(?_-83-11021)_*1097{0}"	"r.?"	"p.?"	"1i_34_"
"0000933192"	"00001630"	"90"	"2009"	"0"	"2012"	"0"	"c.2009_2012del"	"r.(?)"	"p.(Asn670Ilefs*25)"	""
"0000933193"	"00001630"	"90"	"1129"	"0"	"1129"	"0"	"c.1129C>T"	"r.(?)"	"p.(Arg377Cys)"	""
"0000933194"	"00001630"	"70"	"253"	"0"	"253"	"0"	"c.253G>A"	"r.(?)"	"p.(Val85Ile)"	""
"0000933207"	"00001630"	"90"	""	"0"	""	"0"	"c.-292_*1097{0}"	"r.0?"	"p.0?"	"_1_34_"
"0000933208"	"00001630"	"90"	""	"0"	""	"0"	"c.-292_*1097{0}"	"r.0?"	"p.0?"	"_1_34_"
"0000933209"	"00001630"	"90"	""	"0"	""	"0"	"c.-292_*1097{0}"	"r.0?"	"p.0?"	"_1_34_"
"0000933210"	"00001630"	"90"	"297"	"12440"	"2277"	"8053"	"c.(297+1_297+12440)_(2277+8053_2278-1)del"	"r,?"	"p.?"	""
"0000933211"	"00001630"	"90"	"-84"	"43204"	"471"	"6219"	"c.(?_-84+43204)_(471+6219_472-1)del"	"r,?"	"p.?"	""
"0000933212"	"00001630"	"90"	"-84"	"43204"	"471"	"6219"	"c.(?_-84+43204)_(471+6219_472-1)del"	"r,?"	"p.?"	""
"0000933213"	"00001630"	"90"	""	"0"	""	"0"	"c.-292_*1097{0}"	"r.0?"	"p.0?"	"_1_34_"
"0000933214"	"00001630"	"90"	"641"	"0"	"641"	"0"	"c.641A>G"	"r.(?)"	"p.(Gln214Arg)"	"7"
"0000933215"	"00001630"	"90"	"1433"	"0"	"1433"	"0"	"c.1433A>C"	"r.(?)"	"p.(His478Pro)"	"15"
"0000933216"	"00001630"	"90"	"646"	"0"	"646"	"0"	"c.646A>G"	"r.(?)"	"p.(Arg216Gly)"	"7"
"0000933217"	"00001630"	"90"	"1118"	"0"	"1118"	"0"	"c.1118G>A"	"r.(?)"	"p.(Arg373Gln)"	"11"
"0000933218"	"00001630"	"90"	"1460"	"0"	"1464"	"0"	"c.1460_1464dup"	"r.(?)"	"p.(Trp489Valfs*10)"	"15"
"0000933219"	"00001630"	"90"	"659"	"0"	"659"	"0"	"c.659A>G"	"r.(?)"	"p.(His220Arg)"	"7"
"0000933220"	"00001630"	"90"	"997"	"0"	"997"	"0"	"c.997A>C"	"r.(?)"	"p.(Lys333Gln)"	"10"
"0000933221"	"00001630"	"90"	"2936"	"0"	"2936"	"0"	"c.2936A>G"	"r.(?)"	"p.(Lys979Arg)"	"27"
"0000933222"	"00001630"	"90"	"1052"	"0"	"1052"	"0"	"c.1052T>G"	"r.(?)"	"p.(Leu351Trp)"	"11"
"0000933223"	"00001630"	"90"	"1736"	"0"	"1736"	"0"	"c.1736dup"	"r.(?)"	"p.(Ser580Valfs*21)"	"17"
"0000948038"	"00001630"	"30"	"81489"	"0"	"81489"	"0"	"c.*77712C>T"	"r.(=)"	"p.(=)"	""
"0000948039"	"00001630"	"30"	"58199"	"0"	"58199"	"0"	"c.*54422C>G"	"r.(=)"	"p.(=)"	""
"0000948040"	"00001630"	"30"	"43961"	"0"	"43961"	"0"	"c.*40184G>A"	"r.(=)"	"p.(=)"	""
"0000948041"	"00001630"	"30"	"3412"	"0"	"3412"	"0"	"c.3412T>A"	"r.(?)"	"p.(Ser1138Thr)"	""
"0000948042"	"00001630"	"50"	"1840"	"0"	"1840"	"0"	"c.1840G>C"	"r.(?)"	"p.(Asp614His)"	""
"0000962500"	"00001630"	"70"	"632"	"0"	"632"	"0"	"c.632C>G"	"r.(?)"	"p.(Ser211*)"	""
"0000975594"	"00001630"	"50"	"91548"	"0"	"91548"	"0"	"c.*87771G>T"	"r.(=)"	"p.(=)"	""
"0000975595"	"00001630"	"50"	"86066"	"0"	"86066"	"0"	"c.*82289T>C"	"r.(=)"	"p.(=)"	""
"0000975596"	"00001630"	"50"	"58092"	"0"	"58092"	"0"	"c.*54315T>C"	"r.(=)"	"p.(=)"	""
"0000975597"	"00001630"	"50"	"40975"	"0"	"40975"	"0"	"c.*37198G>A"	"r.(=)"	"p.(=)"	""
"0000975598"	"00001630"	"50"	"25051"	"0"	"25051"	"0"	"c.*21274A>G"	"r.(=)"	"p.(=)"	""
"0000975599"	"00001630"	"30"	"1650"	"2645"	"1650"	"2646"	"c.1650+2645_1650+2646dup"	"r.(=)"	"p.(=)"	""
"0000975600"	"00001630"	"30"	"1546"	"2106"	"1546"	"2106"	"c.1546+2106G>A"	"r.(=)"	"p.(=)"	""
"0000975601"	"00001630"	"50"	"903"	"-4"	"903"	"-3"	"c.903-4_903-3del"	"r.spl?"	"p.?"	""
"0000975602"	"00001630"	"30"	"676"	"2376"	"676"	"2376"	"c.676+2376T>G"	"r.(=)"	"p.(=)"	""
"0000975603"	"00001630"	"50"	"241"	"0"	"241"	"0"	"c.241G>A"	"r.(?)"	"p.(Glu81Lys)"	""
"0000975604"	"00001630"	"50"	"30"	"-2917"	"30"	"-2917"	"c.30-2917A>G"	"r.(=)"	"p.(=)"	""
"0000993315"	"00001630"	"70"	"2930"	"0"	"2934"	"0"	"c.2930_2934del"	"r.(?)"	"p.(Leu977Glnfs*9)"	""
"0000993316"	"00001630"	"50"	"2445"	"0"	"2445"	"0"	"c.2445G>C"	"r.(?)"	"p.(Gln815His)"	""
"0000993317"	"00001630"	"30"	"2170"	"0"	"2170"	"0"	"c.2170A>G"	"r.(?)"	"p.(Ile724Val)"	""
"0000993318"	"00001630"	"30"	"2110"	"0"	"2110"	"0"	"c.2110G>A"	"r.(?)"	"p.(Ala704Thr)"	""
"0000993319"	"00001630"	"30"	"1325"	"0"	"1325"	"0"	"c.1325G>C"	"r.(?)"	"p.(Arg442Thr)"	""
"0000993320"	"00001630"	"50"	"1133"	"0"	"1133"	"0"	"c.1133T>C"	"r.(?)"	"p.(Ile378Thr)"	""
"0000993321"	"00001630"	"50"	"1066"	"0"	"1066"	"0"	"c.1066A>G"	"r.(?)"	"p.(Ser356Gly)"	""
"0000993322"	"00001630"	"50"	"959"	"0"	"959"	"0"	"c.959A>C"	"r.(?)"	"p.(Lys320Thr)"	""
"0000993323"	"00001630"	"50"	"256"	"0"	"256"	"0"	"c.256A>C"	"r.(?)"	"p.(Thr86Pro)"	""
"0000993324"	"00001630"	"30"	"50"	"0"	"50"	"0"	"c.50C>T"	"r.(?)"	"p.(Thr17Ile)"	""
"0001013819"	"00001630"	"70"	"14792"	"0"	"14792"	"0"	"c.*11015G>A"	"r.(=)"	"p.(=)"	""
"0001024725"	"00001630"	"50"	"2170"	"0"	"2170"	"0"	"c.2170A>G"	"r.(?)"	"p.(Ile724Val)"	""
"0001030317"	"00001630"	"70"	"501"	"0"	"501"	"0"	"c.501dup"	"r.(?)"	"p.(Gly168TrpfsTer13)"	""
"0001033707"	"00001630"	"50"	"58143"	"0"	"58143"	"0"	"c.*54366G>A"	"r.(=)"	"p.(=)"	""
"0001033708"	"00001630"	"50"	"58125"	"0"	"58125"	"0"	"c.*54348C>T"	"r.(=)"	"p.(=)"	""
"0001033709"	"00001630"	"50"	"14319"	"0"	"14319"	"0"	"c.*10542T>C"	"r.(=)"	"p.(=)"	""
"0001033710"	"00001630"	"50"	"3526"	"0"	"3526"	"0"	"c.3526A>G"	"r.(?)"	"p.(Met1176Val)"	""
"0001033711"	"00001630"	"50"	"2467"	"0"	"2469"	"0"	"c.2467_2469dup"	"r.(?)"	"p.(Thr823dup)"	""
"0001033712"	"00001630"	"30"	"2278"	"-6673"	"2278"	"-6673"	"c.2278-6673G>T"	"r.(=)"	"p.(=)"	""
"0001033713"	"00001630"	"30"	"2108"	"249"	"2108"	"249"	"c.2108+249C>T"	"r.(=)"	"p.(=)"	""
"0001033714"	"00001630"	"30"	"2108"	"4"	"2108"	"4"	"c.2108+4C>T"	"r.spl?"	"p.?"	""
"0001033715"	"00001630"	"30"	"132"	"3372"	"132"	"3373"	"c.132+3372_132+3373insC"	"r.(=)"	"p.(=)"	""
"0001033716"	"00001630"	"30"	"-84"	"7832"	"-84"	"7832"	"c.-84+7832A>G"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 42
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000003902"
"0000024226"	"0000046774"
"0000024226"	"0000046776"
"0000024226"	"0000046777"
"0000227220"	"0000461272"
"0000249587"	"0000578386"
"0000302384"	"0000665618"
"0000377328"	"0000789637"
"0000433271"	"0000918914"
"0000436953"	"0000931664"
"0000437763"	"0000933179"
"0000437764"	"0000933180"
"0000437765"	"0000933181"
"0000437766"	"0000933182"
"0000437767"	"0000933183"
"0000437768"	"0000933184"
"0000437769"	"0000933185"
"0000437770"	"0000933186"
"0000437771"	"0000933187"
"0000437772"	"0000933188"
"0000437773"	"0000933189"
"0000437776"	"0000933192"
"0000437777"	"0000933193"
"0000437778"	"0000933194"
"0000437789"	"0000933207"
"0000437790"	"0000933208"
"0000437791"	"0000933209"
"0000437792"	"0000933210"
"0000437793"	"0000933211"
"0000437794"	"0000933212"
"0000437795"	"0000933213"
"0000437796"	"0000933214"
"0000437797"	"0000933215"
"0000437798"	"0000933216"
"0000437799"	"0000933217"
"0000437800"	"0000933218"
"0000437801"	"0000933219"
"0000437802"	"0000933220"
"0000437803"	"0000933221"
"0000437804"	"0000933222"
"0000437805"	"0000933223"
"0000466356"	"0001030317"