### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CCM2)
# 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}}"
"CCM2"	"cerebral cavernous malformation 2"	"7"	"p13"	"unknown"	"NG_016295.1"	"UD_132084413730"	""	"http://www.LOVD.nl/CCM2"	""	"1"	"21708"	"83605"	"607929"	"1"	"1"	"1"	"1"	"Aliases C7orf22 and MGC4607.\r\n<a href=\"http://www.deduveinstitute.be/\" target=\"_blank\"><img src=\"docs/Leuven_UCL_logo.png\" width=\"200\"></a></a> This database is one of the <font color=\"#FF0000\"><b>\"Vascular anomalies and lymphedema\"</b> gene variant databases</font>, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/CCM2_codingDNA.html"	"1"	""	"<a href=\"http://www.deduveinstitute.be/\" target=\"_blank\"><img src=\"docs/Leuven_UCL_logo.png\" width=\"200\"></a></a><BR>This database is one of the <font color=\"#FF0000\"><b>\"Vascular anomalies and lymphedema\"</b> gene variant databases</font>."	"-1"	""	"-1"	"00001"	"2010-03-10 00:00:00"	"00006"	"2018-05-11 17:31:49"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00004616"	"CCM2"	"transcript variant 2"	"002"	"NM_031443.3"	""	"NP_113631.1"	""	""	""	"-146"	"1748"	"1335"	"45039787"	"45116069"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00204"	"AD"	"Alzheimer disease (AD)"	"AD"	"104300"	""	""	""	"00006"	"2013-09-24 20:52:38"	"00006"	"2021-12-10 21:51:32"
"00459"	"CCM"	"cerebral cavernous malformations (CCM)"	""	""	""	""	""	"00006"	"2014-07-18 15:09:38"	"00006"	"2018-02-20 09:44:39"
"01509"	"PSP"	"pneumothorax, primary spontaneous"	"AD"	"173600"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02448"	"CCM2"	"cerebral cavernous malformations, type 2 (CCM-2)"	"AD"	"603284"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04296"	"MINAS"	"neoplasia, multiple inherited alleles (MINAS)"	"AD;AR;SMo"	""	""	""	""	"00006"	"2015-07-02 09:20:44"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CCM2"	"02448"


## Individuals ## Do not remove or alter this header ##
## Count = 26
"{{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}}"
"00048066"	""	""	""	"1"	""	"00727"	""	""	"F"	""	"Denmark"	""	"0"	""	""	""	""
"00058829"	""	""	""	"1"	""	"01540"	""	""	"F"	"no"	""	""	"0"	""	""	""	""
"00153314"	""	""	""	"1"	""	"02390"	""	""	"M"	""	"Taiwan"	""	"0"	""	""	""	""
"00153315"	""	""	""	"1"	""	"02390"	""	""	"M"	"no"	"Taiwan"	""	"0"	""	""	""	""
"00165043"	""	""	""	"1"	""	"02515"	""	""	""	"yes"	"Italy"	""	"0"	""	""	""	""
"00165078"	""	""	""	"1"	""	"02515"	""	""	""	""	"Italy"	""	"0"	""	""	""	"?"
"00165079"	""	""	""	"1"	""	"02515"	""	""	""	""	"Italy"	""	"0"	""	""	""	"?"
"00165080"	""	""	""	"1"	""	"02515"	""	""	""	""	"Italy"	""	"0"	""	""	""	"?"
"00170858"	""	""	""	"1"	""	"02515"	""	""	"F"	"?"	"Italy"	""	"0"	""	""	""	"34"
"00170859"	""	""	""	"1"	""	"02515"	""	""	"M"	"?"	"Italy"	""	"0"	""	""	""	"35"
"00173728"	""	""	""	"1"	""	"02515"	""	""	"M"	"?"	"Italy"	""	"0"	""	""	""	"42"
"00294468"	""	""	""	"5"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00419065"	""	""	""	"2"	""	"00006"	"{PMID:Nardella 2018:30161288}"	"2-generation family, affected father/son (2M)"	"M"	""	"Italy"	""	"0"	""	""	""	""
"00419066"	""	""	""	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	"family, 1 affected"	""	""	"Italy"	""	"0"	""	""	""	""
"00419067"	""	""	""	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	"family, 1 affected"	""	""	"Italy"	""	"0"	""	""	""	""
"00419068"	""	""	""	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	"family, 1 affected"	""	""	"Italy"	""	"0"	""	""	""	""
"00419069"	""	""	""	"2"	""	"00006"	"{PMID:Nardella 2018:30161288}"	"2-generation family, affected father/son (2M)"	"M"	""	"Italy"	""	"0"	""	""	""	""
"00419070"	""	""	""	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	"family, 1 affected"	""	""	"Italy"	""	"0"	""	""	""	""
"00419071"	""	""	""	"3"	""	"00006"	"{PMID:Nardella 2018:30161288}"	"5-generation family, 3 affected (F, 2M)"	"M"	""	"Italy"	""	"0"	""	""	""	"FamVIIPatII1"
"00419072"	""	""	"00419071"	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	"daughter"	"F"	""	"Italy"	""	"0"	""	""	""	"FamVIIPatIII1"
"00419073"	""	""	"00419071"	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	"grandson"	"M"	""	"Italy"	""	"0"	""	""	""	"FamVIIPatIV2"
"00419074"	""	""	""	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00419075"	""	""	""	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00419076"	""	""	""	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00419077"	""	""	""	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00419078"	""	""	""	"1"	""	"00006"	"{PMID:Nardella 2018:30161288}"	""	""	""	"Italy"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 27
"{{individualid}}"	"{{diseaseid}}"
"00048066"	"01509"
"00048066"	"04296"
"00058829"	"00204"
"00153314"	"02448"
"00153315"	"02448"
"00165043"	"00459"
"00165078"	"00459"
"00165079"	"00459"
"00165080"	"00459"
"00170858"	"02448"
"00170859"	"02448"
"00173728"	"02448"
"00294468"	"00198"
"00419065"	"00459"
"00419066"	"00459"
"00419067"	"00459"
"00419068"	"00459"
"00419069"	"00459"
"00419070"	"00459"
"00419071"	"00459"
"00419072"	"00459"
"00419073"	"00459"
"00419074"	"00459"
"00419075"	"00459"
"00419076"	"00459"
"00419077"	"00459"
"00419078"	"00459"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00204, 00459, 01509, 02448, 04296
## 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}}"
"0000034749"	"04296"	"00048066"	"00006"	"Unknown"	""	"multiple cerebral cavernous heamangiomas 48y; Multinodular goitre 48y; Submandibular oncocytoma 57y; Recurrent pnemothoraces"	""	""	""	""	""	""	""	""	""	"neoplasia, multiple inherited alleles (MINAS)"	""
"0000045428"	"00204"	"00058829"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000125995"	"02448"	"00153314"	"02390"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000125996"	"02448"	"00153315"	"02390"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000129928"	"00459"	"00165043"	"02515"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CCM-2"	"cerebral cavernous malformations"	""
"0000129949"	"00459"	"00165078"	"02515"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CCM-2"	"cerebral cavernous malformations"	""
"0000129950"	"00459"	"00165079"	"02515"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CCM-2"	"cerebral cavernous malformations"	""
"0000129951"	"00459"	"00165080"	"02515"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CCM-2"	"cerebral cavernous malformations"	""
"0000135720"	"02448"	"00170858"	"02515"	"Familial"	""	"Headache (HP:0002076), Cerebellar hemangiomas"	""	""	""	""	""	""	""	""	"CCM-2"	"CCM"	""
"0000135723"	"02448"	"00170859"	"02515"	"Familial"	""	"Headache (HP:0002076), Epilepsy (HP:0001250), Fatigable weakness of skeletal (HP:0030197), Cerebellar hemangiomas, Bilateral lesions"	""	""	""	""	""	""	""	""	""	""	""
"0000138583"	"02448"	"00173728"	"02515"	"Familial"	""	"Cerebellar hemangiomas"	""	""	""	""	""	""	""	""	""	""	""
"0000310352"	"00459"	"00419065"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310353"	"00459"	"00419066"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310354"	"00459"	"00419067"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310355"	"00459"	"00419068"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310356"	"00459"	"00419069"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310357"	"00459"	"00419070"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310358"	"00459"	"00419071"	"00006"	"Familial, autosomal dominant"	"76y"	"cerebellar hemangiomas"	"44y"	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310359"	"00459"	"00419072"	"00006"	"Familial, autosomal dominant"	"61y"	"headache/migraine (HP:0002076); cerebellar hemangiomas"	"36y"	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310360"	"00459"	"00419073"	"00006"	"Familial, autosomal dominant"	"55y"	"headache/migraine (HP:0002076); epilepsy (HP:0001250); fatigable weakness skeletal muscles (HP:0030197); cerebellar hemangiomas; bilateral lesions"	"16y"	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310361"	"00459"	"00419074"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310362"	"00459"	"00419075"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310363"	"00459"	"00419076"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310364"	"00459"	"00419077"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""
"0000310365"	"00459"	"00419078"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CCM2"	"cerebral cavernous malformations"	""


## Screenings ## Do not remove or alter this header ##
## Count = 26
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000048193"	"00048066"	"1"	"00727"	"00727"	"2015-09-03 13:25:35"	""	""	"SEQ"	"DNA"	""	""
"0000058793"	"00058829"	"1"	"01540"	"01540"	"2016-02-08 10:48:51"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000154177"	"00153314"	"1"	"02390"	"02390"	"2018-02-13 13:24:53"	"00006"	"2018-02-13 22:48:41"	"PCR;SEQ"	"DNA"	""	""
"0000154178"	"00153315"	"1"	"02390"	"02390"	"2018-02-13 13:33:13"	"00006"	"2018-02-13 22:48:41"	"PCR;SEQ"	"DNA"	""	""
"0000165916"	"00165043"	"1"	"02515"	"02515"	"2018-06-21 10:59:00"	""	""	"SEQ"	"DNA"	""	""
"0000165950"	"00165078"	"1"	"02515"	"02515"	"2018-06-21 10:41:13"	""	""	"SEQ"	"DNA"	""	""
"0000165951"	"00165079"	"1"	"02515"	"02515"	"2018-06-21 10:41:13"	""	""	"SEQ"	"DNA"	""	""
"0000165952"	"00165080"	"1"	"02515"	"02515"	"2018-06-21 10:41:13"	""	""	"SEQ"	"DNA"	""	""
"0000171741"	"00170858"	"1"	"02515"	"02515"	"2018-07-27 10:03:15"	""	""	"SEQ"	"DNA"	""	""
"0000171742"	"00170859"	"1"	"02515"	"02515"	"2018-07-27 10:55:45"	""	""	"SEQ"	"DNA"	""	""
"0000174619"	"00173728"	"1"	"02515"	"02515"	"2018-07-30 16:01:57"	""	""	"SEQ"	"DNA"	""	""
"0000295636"	"00294468"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000420363"	"00419065"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420364"	"00419066"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420365"	"00419067"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420366"	"00419068"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420367"	"00419069"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420368"	"00419070"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420369"	"00419071"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420370"	"00419072"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420371"	"00419073"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420372"	"00419074"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420373"	"00419075"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420374"	"00419076"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420375"	"00419077"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""
"0000420376"	"00419078"	"1"	"00006"	"00006"	"2022-10-14 17:28:02"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 25
"{{screeningid}}"	"{{geneid}}"
"0000048193"	"CCM2"
"0000048193"	"FLCN"
"0000154177"	"CCM2"
"0000154178"	"CCM2"
"0000165916"	"CCM2"
"0000165950"	"CCM2"
"0000165951"	"CCM2"
"0000165952"	"CCM2"
"0000171741"	"CCM2"
"0000171742"	"CCM2"
"0000174619"	"CCM2"
"0000420363"	"CCM2"
"0000420364"	"CCM2"
"0000420365"	"CCM2"
"0000420366"	"CCM2"
"0000420367"	"CCM2"
"0000420368"	"CCM2"
"0000420369"	"CCM2"
"0000420370"	"CCM2"
"0000420371"	"CCM2"
"0000420372"	"CCM2"
"0000420373"	"CCM2"
"0000420374"	"CCM2"
"0000420375"	"CCM2"
"0000420376"	"CCM2"


## 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 = 101
"{{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}}"
"0000077017"	"0"	"90"	"7"	"45104092"	"45104092"	"subst"	"0"	"00727"	"CCM2_000001"	"g.45104092C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.45064493C>T"	""	"pathogenic"	""
"0000089480"	"0"	"70"	"7"	"45103548"	"45103549"	"del"	"0"	"01540"	"CCM2_000002"	"g.45103548_45103549del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.45063949_45063950del"	""	"likely pathogenic"	""
"0000253818"	"0"	"10"	"7"	"45115662"	"45115662"	"subst"	"0.00295173"	"01943"	"CCM2_000032"	"g.45115662A>G"	""	""	""	"CCM2(NM_001029835.2):c.*6A>G (p.(=)), CCM2(NM_031443.3):c.*6A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45076063A>G"	""	"benign"	""
"0000264378"	"0"	"10"	"7"	"45077978"	"45077978"	"subst"	"0.0632561"	"02330"	"CCM2_000009"	"g.45077978G>A"	""	""	""	"CCM2(NM_001029835.2):c.220G>A (p.V74I), CCM2(NM_031443.3):c.157G>A (p.V53I), CCM2(NM_031443.4):c.157G>A (p.V53I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45038379G>A"	""	"benign"	""
"0000264379"	"0"	"10"	"7"	"45104124"	"45104124"	"subst"	"0.00971391"	"02330"	"CCM2_000014"	"g.45104124G>A"	""	""	""	"CCM2(NM_001029835.2):c.414G>A (p.(Ala138=)), CCM2(NM_031443.4):c.351G>A (p.A117=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45064525G>A"	""	"benign"	""
"0000264380"	"0"	"10"	"7"	"45104131"	"45104131"	"subst"	"0.147381"	"02330"	"CCM2_000015"	"g.45104131G>A"	""	""	""	"CCM2(NM_001167935.1):c.358G>A (p.V120I), CCM2(NM_031443.3):c.358G>A (p.V120I), CCM2(NM_031443.4):c.358G>A (p.V120I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45064532G>A"	""	"benign"	""
"0000264381"	"0"	"10"	"7"	"45113170"	"45113170"	"subst"	"0.230428"	"02330"	"CCM2_000028"	"g.45113170G>A"	""	""	""	"CCM2(NM_031443.3):c.915G>A (p.T305=), CCM2(NM_031443.4):c.915G>A (p.T305=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45073571G>A"	""	"benign"	""
"0000269846"	"0"	"10"	"7"	"45067267"	"45067267"	"subst"	"0.232032"	"02326"	"CCM2_000007"	"g.45067267G>C"	""	""	""	"CCM2(NM_001029835.2):c.-37G>C, CCM2(NM_031443.3):c.31-10585G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45027668G>C"	""	"benign"	""
"0000269847"	"0"	"10"	"7"	"45077978"	"45077978"	"subst"	"0.0632561"	"02326"	"CCM2_000009"	"g.45077978G>A"	""	""	""	"CCM2(NM_001029835.2):c.220G>A (p.V74I), CCM2(NM_031443.3):c.157G>A (p.V53I), CCM2(NM_031443.4):c.157G>A (p.V53I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45038379G>A"	""	"benign"	""
"0000269848"	"0"	"10"	"7"	"45103287"	"45103287"	"subst"	"0"	"02326"	"CCM2_000011"	"g.45103287T>G"	""	""	""	"CCM2(NM_001029835.2):c.268-230T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45063688T>G"	""	"benign"	""
"0000269849"	"0"	"10"	"7"	"45104131"	"45104131"	"subst"	"0.147381"	"02326"	"CCM2_000015"	"g.45104131G>A"	""	""	""	"CCM2(NM_001167935.1):c.358G>A (p.V120I), CCM2(NM_031443.3):c.358G>A (p.V120I), CCM2(NM_031443.4):c.358G>A (p.V120I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45064532G>A"	""	"benign"	""
"0000269850"	"0"	"10"	"7"	"45104372"	"45104372"	"subst"	"0"	"02326"	"CCM2_000019"	"g.45104372C>T"	""	""	""	"CCM2(NM_001029835.2):c.535+127C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45064773C>T"	""	"benign"	""
"0000269851"	"0"	"30"	"7"	"45108142"	"45108142"	"subst"	"0"	"02326"	"CCM2_000021"	"g.45108142G>C"	""	""	""	"CCM2(NM_001029835.2):c.636G>C (p.E212D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45068543G>C"	""	"likely benign"	""
"0000269853"	"0"	"90"	"7"	"45109561"	"45109561"	"subst"	"0"	"02326"	"CCM2_000024"	"g.45109561G>A"	""	""	""	"CCM2(NM_001029835.2):c.808+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45069962G>A"	""	"pathogenic"	""
"0000269854"	"0"	"30"	"7"	"45109583"	"45109583"	"subst"	"4.08951E-6"	"02326"	"CCM2_000025"	"g.45109583G>T"	""	""	""	"CCM2(NM_001029835.2):c.808+23G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45069984G>T"	""	"likely benign"	""
"0000269855"	"0"	"10"	"7"	"45113170"	"45113170"	"subst"	"0.230428"	"02326"	"CCM2_000028"	"g.45113170G>A"	""	""	""	"CCM2(NM_031443.3):c.915G>A (p.T305=), CCM2(NM_031443.4):c.915G>A (p.T305=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45073571G>A"	""	"benign"	""
"0000272831"	"0"	"10"	"7"	"45067267"	"45067267"	"subst"	"0.232032"	"01943"	"CCM2_000007"	"g.45067267G>C"	""	""	""	"CCM2(NM_001029835.2):c.-37G>C, CCM2(NM_031443.3):c.31-10585G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45027668G>C"	""	"benign"	""
"0000272832"	"0"	"10"	"7"	"45115675"	"45115675"	"del"	"0"	"01943"	"CCM2_000033"	"g.45115675del"	""	""	""	"CCM2(NM_031443.3):c.*19delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45076076del"	""	"benign"	""
"0000272833"	"0"	"10"	"7"	"45114019"	"45114019"	"subst"	"0.00252615"	"01943"	"CCM2_000029"	"g.45114019C>T"	""	""	""	"CCM2(NM_001029835.2):c.1117+12C>T (p.(=)), CCM2(NM_001363458.2):c.1177+12C>T, CCM2(NM_031443.3):c.1054+12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45074420C>T"	""	"benign"	""
"0000272834"	"0"	"90"	"7"	"45115396"	"45115396"	"subst"	"0"	"01943"	"CCM2_000031"	"g.45115396G>T"	""	""	""	"CCM2(NM_031443.3):c.1075G>T (p.E359*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45075797G>T"	""	"pathogenic"	""
"0000272835"	"0"	"10"	"7"	"45077978"	"45077978"	"subst"	"0.0632561"	"01943"	"CCM2_000009"	"g.45077978G>A"	""	""	""	"CCM2(NM_001029835.2):c.220G>A (p.V74I), CCM2(NM_031443.3):c.157G>A (p.V53I), CCM2(NM_031443.4):c.157G>A (p.V53I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45038379G>A"	""	"benign"	""
"0000272836"	"0"	"90"	"7"	"45077990"	"45077993"	"del"	"0"	"01943"	"CCM2_000010"	"g.45077990_45077993del"	""	""	""	"CCM2(NM_031443.3):c.169_172delAGAC (p.R57Cfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45038391_45038394del"	""	"pathogenic"	""
"0000272837"	"0"	"90"	"7"	"45103544"	"45103544"	"subst"	"0"	"01943"	"CCM2_000012"	"g.45103544G>T"	""	""	""	"CCM2(NM_031443.3):c.232G>T (p.G78*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45063945G>T"	""	"pathogenic"	""
"0000272838"	"0"	"90"	"7"	"45103548"	"45103549"	"del"	"0"	"01943"	"CCM2_000002"	"g.45103548_45103549del"	""	""	""	"CCM2(NM_001363458.2):c.236_237delAC (p.Y79Sfs*6), CCM2(NM_031443.3):c.236_237delAC (p.Y79Sfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45063949_45063950del"	""	"pathogenic"	""
"0000272839"	"0"	"30"	"7"	"45103558"	"45103558"	"subst"	"0.00186391"	"01943"	"CCM2_000013"	"g.45103558C>T"	""	""	""	"CCM2(NM_001363458.2):c.246C>T (p.P82=), CCM2(NM_031443.3):c.246C>T (p.P82=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45063959C>T"	""	"likely benign"	""
"0000272840"	"0"	"90"	"7"	"45039964"	"45039964"	"subst"	"0"	"01943"	"CCM2_000005"	"g.45039964T>C"	""	""	""	"CCM2(NM_031443.3):c.30+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45000365T>C"	""	"pathogenic"	""
"0000272841"	"0"	"10"	"7"	"45040057"	"45040057"	"subst"	"0"	"01943"	"CCM2_000006"	"g.45040057G>C"	""	""	""	"CCM2(NM_031443.3):c.30+95G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45000458G>C"	""	"benign"	""
"0000272842"	"0"	"90"	"7"	"45039962"	"45039962"	"subst"	"0"	"01943"	"CCM2_000004"	"g.45039962G>A"	""	""	""	"CCM2(NM_031443.3):c.30G>A (p.K10=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45000363G>A"	""	"pathogenic"	""
"0000272843"	"0"	"10"	"7"	"45104131"	"45104131"	"subst"	"0.147381"	"01943"	"CCM2_000015"	"g.45104131G>A"	""	""	""	"CCM2(NM_001167935.1):c.358G>A (p.V120I), CCM2(NM_031443.3):c.358G>A (p.V120I), CCM2(NM_031443.4):c.358G>A (p.V120I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45064532G>A"	""	"benign"	""
"0000272844"	"0"	"50"	"7"	"45104140"	"45104140"	"subst"	"0"	"01943"	"CCM2_000016"	"g.45104140G>C"	""	""	""	"CCM2(NM_031443.3):c.367G>C (p.A123P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45064541G>C"	""	"VUS"	""
"0000272845"	"0"	"50"	"7"	"45039935"	"45039935"	"subst"	"0"	"01943"	"CCM2_000003"	"g.45039935G>A"	""	""	""	"CCM2(NM_031443.3):c.3G>A (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45000336G>A"	""	"VUS"	""
"0000272846"	"0"	"50"	"7"	"45104228"	"45104228"	"subst"	"0"	"01943"	"CCM2_000017"	"g.45104228T>C"	""	""	""	"CCM2(NM_031443.3):c.455T>C (p.L152P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45064629T>C"	""	"VUS"	""
"0000272848"	"0"	"90"	"7"	"45077876"	"45077876"	"subst"	"4.06276E-6"	"01943"	"CCM2_000008"	"g.45077876C>T"	""	""	""	"CCM2(NM_031443.3):c.55C>T (p.R19*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45038277C>T"	""	"pathogenic"	""
"0000272849"	"0"	"90"	"7"	"45108133"	"45108140"	"del"	"0"	"01943"	"CCM2_000020"	"g.45108133_45108140del"	""	""	""	"CCM2(NM_031443.3):c.564_571delGCCCGTGG (p.P189Gfs*44)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45068534_45068541del"	""	"pathogenic"	""
"0000272850"	"0"	"90"	"7"	"45108147"	"45108151"	"del"	"0"	"01943"	"CCM2_000022"	"g.45108147_45108151del"	""	""	""	"CCM2(NM_031443.3):c.578_582delGCTGC (p.C193Sfs*41)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45068548_45068552del"	""	"pathogenic"	""
"0000272851"	"0"	"10"	"7"	"45113054"	"45113054"	"subst"	"0.00235876"	"01943"	"CCM2_000026"	"g.45113054C>T"	""	""	""	"CCM2(NM_001029835.2):c.867-5C>T (p.?), CCM2(NM_031443.3):c.804-5C>T, CCM2(NM_031443.4):c.804-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45073455C>T"	""	"benign"	""
"0000272852"	"0"	"30"	"7"	"45113121"	"45113121"	"subst"	"0.017201"	"01943"	"CCM2_000027"	"g.45113121G>A"	""	""	""	"CCM2(NM_031443.3):c.866G>A (p.S289N), CCM2(NM_031443.4):c.866G>A (p.S289N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45073522G>A"	""	"likely benign"	""
"0000272853"	"0"	"10"	"7"	"45113170"	"45113170"	"subst"	"0.230428"	"01943"	"CCM2_000028"	"g.45113170G>A"	""	""	""	"CCM2(NM_031443.3):c.915G>A (p.T305=), CCM2(NM_031443.4):c.915G>A (p.T305=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45073571G>A"	""	"benign"	""
"0000353657"	"0"	"90"	"7"	"45077934"	"45077937"	"del"	"0"	"02390"	"CCM2_000036"	"g.45077934_45077937del"	""	""	""	"111_114delAGAG"	""	"Germline"	""	""	"0"	""	""	"g.45038335_45038338del"	""	"pathogenic"	""
"0000353658"	"0"	"70"	"7"	"45108137"	"45108137"	"subst"	"0.000223401"	"02390"	"CCM2_000035"	"g.45108137G>A"	""	""	""	"NM_001029835.2:631G>A (V211M)"	""	"Germline"	""	""	"0"	""	""	"g.45068538G>A"	""	"likely pathogenic"	""
"0000369735"	"0"	"70"	"7"	"45077955"	"45077956"	"del"	"0"	"02515"	"CCM2_000037"	"g.45077955_45077956del"	""	""	""	"134_135delTG"	""	"Germline"	"yes"	""	"0"	""	""	"g.45038356_45038357del"	""	"likely pathogenic"	""
"0000369777"	"0"	"70"	"7"	"45039085"	"45039963"	"del"	"0"	"02515"	"CCM2_000040"	"g.(?_45039085)_(45039963_45077851)del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000369778"	"0"	"70"	"7"	"0"	"0"	""	"0"	"02515"	"CCM2_000038"	"g.(45039963_45077851)_45078026_45103516)del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000369779"	"0"	"70"	"7"	"45113171"	"45113868"	"del"	"0"	"02515"	"CCM2_000039"	"g.(45113171_45113868)_(5114008_45115375)del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000392096"	"0"	"70"	"7"	"45077955"	"45077956"	"del"	"0"	"02515"	"CCM2_000037"	"g.45077955_45077956del"	""	""	""	"134_135delTG"	""	"Germline"	"yes"	""	"0"	""	""	"g.45038356_45038357del"	""	"likely pathogenic"	""
"0000392099"	"0"	"70"	"7"	"45077955"	"45077956"	"del"	"0"	"02515"	"CCM2_000037"	"g.45077955_45077956del"	""	""	""	"134_135delTG"	""	"Germline"	"yes"	""	"0"	""	""	"g.45038356_45038357del"	""	"likely pathogenic"	""
"0000394426"	"0"	"70"	"7"	"45077955"	"45077956"	"del"	"0"	"02515"	"CCM2_000037"	"g.45077955_45077956del"	""	""	""	"134_135delTG"	""	"Germline"	"yes"	""	"0"	""	""	"g.45038356_45038357del"	""	"likely pathogenic"	""
"0000532086"	"0"	"70"	"7"	"45078026"	"45078026"	"dup"	"0"	"02326"	"CCM2_000041"	"g.45078026dup"	""	""	""	"CCM2(NM_001029835.2):c.267dupG (p.Y90Vfs*17)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45038427dup"	""	"likely pathogenic"	""
"0000532087"	"0"	"30"	"7"	"45104101"	"45104101"	"subst"	"0.000313202"	"02326"	"CCM2_000042"	"g.45104101G>A"	""	""	""	"CCM2(NM_001029835.2):c.391G>A (p.(Asp131Asn), p.D131N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45064502G>A"	""	"likely benign"	""
"0000532088"	"0"	"90"	"7"	"45104243"	"45104243"	"dup"	"0"	"01943"	"CCM2_000043"	"g.45104243dup"	""	""	""	"CCM2(NM_031443.3):c.470dupC (p.A158Sfs*78)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45064644dup"	""	"pathogenic"	""
"0000532089"	"0"	"90"	"7"	"45108148"	"45108148"	"subst"	"0"	"01943"	"CCM2_000044"	"g.45108148C>A"	""	""	""	"CCM2(NM_031443.3):c.579C>A (p.C193*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45068549C>A"	""	"pathogenic"	""
"0000532090"	"0"	"90"	"7"	"45108165"	"45108165"	"dup"	"0"	"02326"	"CCM2_000045"	"g.45108165dup"	""	""	""	"CCM2(NM_001029835.2):c.659dupC (p.A221Cfs*36)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45068566dup"	""	"pathogenic"	""
"0000532091"	"0"	"50"	"7"	"45109450"	"45109450"	"subst"	"0"	"01943"	"CCM2_000046"	"g.45109450T>C"	""	""	""	"CCM2(NM_001029835.2):c.698T>C (p.L233P), CCM2(NM_031443.3):c.635T>C (p.L212P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45069851T>C"	""	"VUS"	""
"0000532092"	"0"	"70"	"7"	"45109450"	"45109450"	"subst"	"0"	"02326"	"CCM2_000046"	"g.45109450T>C"	""	""	""	"CCM2(NM_001029835.2):c.698T>C (p.L233P), CCM2(NM_031443.3):c.635T>C (p.L212P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45069851T>C"	""	"likely pathogenic"	""
"0000532093"	"0"	"30"	"7"	"45113054"	"45113054"	"subst"	"0.00235876"	"02330"	"CCM2_000026"	"g.45113054C>T"	""	""	""	"CCM2(NM_001029835.2):c.867-5C>T (p.?), CCM2(NM_031443.3):c.804-5C>T, CCM2(NM_031443.4):c.804-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45073455C>T"	""	"likely benign"	""
"0000532094"	"0"	"30"	"7"	"45115412"	"45115412"	"subst"	"8.13504E-5"	"02326"	"CCM2_000047"	"g.45115412A>G"	""	""	""	"CCM2(NM_001029835.2):c.1154A>G (p.H385R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45075813A>G"	""	"likely benign"	""
"0000611090"	"0"	"50"	"7"	"45104204"	"45104204"	"subst"	"4.0656E-6"	"02326"	"CCM2_000048"	"g.45104204A>G"	""	""	""	"CCM2(NM_001029835.2):c.494A>G (p.Y165C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45064605A>G"	""	"VUS"	""
"0000611091"	"0"	"10"	"7"	"45113121"	"45113121"	"subst"	"0.017201"	"02330"	"CCM2_000027"	"g.45113121G>A"	""	""	""	"CCM2(NM_031443.3):c.866G>A (p.S289N), CCM2(NM_031443.4):c.866G>A (p.S289N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45073522G>A"	""	"benign"	""
"0000652325"	"1"	"50"	"7"	"45108137"	"45108137"	"subst"	"0.000223401"	"03575"	"CCM2_000035"	"g.45108137G>A"	"5/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"5 heterozygous, no homozygous; {DB:CLININrs200358025}"	"Germline"	""	"rs200358025"	"0"	""	""	"g.45068538G>A"	""	"VUS"	""
"0000655837"	"0"	"90"	"7"	"45108179"	"45108187"	"del"	"0"	"02326"	"CCM2_000034"	"g.45108179_45108187del"	""	""	""	"CCM2(NM_001029835.2):c.672+1_672+9delGTGAGACTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45068580_45068588del"	""	"pathogenic"	""
"0000678110"	"0"	"30"	"7"	"45114019"	"45114019"	"subst"	"0.00252615"	"02330"	"CCM2_000029"	"g.45114019C>T"	""	""	""	"CCM2(NM_001029835.2):c.1117+12C>T (p.(=)), CCM2(NM_001363458.2):c.1177+12C>T, CCM2(NM_031443.3):c.1054+12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000721466"	"0"	"50"	"7"	"45104128"	"45104130"	"del"	"0"	"02330"	"CCM2_000049"	"g.45104128_45104130del"	""	""	""	"CCM2(NM_001363458.2):c.355_357delAAC (p.N119del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000803159"	"0"	"10"	"7"	"45115581"	"45115581"	"subst"	"0.00323984"	"02330"	"CCM2_000050"	"g.45115581G>A"	""	""	""	"CCM2(NM_001029835.2):c.1323G>A (p.(Glu441=)), CCM2(NM_001363458.2):c.1383G>A (p.E461=), CCM2(NM_031443.3):c.1260G>A (p.E420=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000860836"	"0"	"90"	"7"	"45103548"	"45103549"	"del"	"0"	"02326"	"CCM2_000002"	"g.45103548_45103549del"	""	""	""	"CCM2(NM_001363458.2):c.236_237delAC (p.Y79Sfs*6), CCM2(NM_031443.3):c.236_237delAC (p.Y79Sfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000860837"	"0"	"90"	"7"	"45104241"	"45104241"	"dup"	"0"	"02326"	"CCM2_000051"	"g.45104241dup"	""	""	""	"CCM2(NM_031443.3):c.468dupG (p.T157Dfs*79)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000880699"	"11"	"90"	"7"	"45039887"	"45039963"	"del"	"0"	"00006"	"CCM2_000052"	"g.(?_45039887)_(45039963_45077851)del"	""	"{PMID:Nardella 2018:30161288}"	""	"(?_-848)_(30+1_31-1)del"	""	"Germline"	""	""	"0"	""	""	"g.(?_45000288)_(45000364_45038252)del"	""	"pathogenic"	""
"0000880700"	"0"	"90"	"7"	"45039887"	"45039963"	"del"	"0"	"00006"	"CCM2_000052"	"g.(?_45039887)_(45039963_45077851)del"	""	"{PMID:Nardella 2018:30161288}"	""	"(?_-848)_(30+1_31-1)del"	""	"Germline"	""	""	"0"	""	""	"g.(?_45000288)_(45000364_45038252)del"	""	"pathogenic"	""
"0000880701"	"0"	"90"	"7"	"45039887"	"45039963"	"del"	"0"	"00006"	"CCM2_000052"	"g.(?_45039887)_(45039963_45077851)del"	""	"{PMID:Nardella 2018:30161288}"	""	"(?_-848)_(30+1_31-1)del"	""	"Germline"	""	""	"0"	""	""	"g.(?_45000288)_(45000364_45038252)del"	""	"pathogenic"	""
"0000880702"	"0"	"90"	"7"	"45039887"	"45039963"	"del"	"0"	"00006"	"CCM2_000052"	"g.(?_45039887)_(45039963_45077851)del"	""	"{PMID:Nardella 2018:30161288}"	""	"(?_-848)_(30+1_31-1)del"	""	"Germline"	""	""	"0"	""	""	"g.(?_45000288)_(45000364_45038252)del"	""	"pathogenic"	""
"0000880703"	"11"	"90"	"7"	"45077876"	"45077876"	"subst"	"4.06276E-6"	"00006"	"CCM2_000008"	"g.45077876C>T"	""	"{PMID:Nardella 2018:30161288}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45038277C>T"	""	"pathogenic"	""
"0000880704"	"0"	"90"	"7"	"45077876"	"45077876"	"subst"	"4.06276E-6"	"00006"	"CCM2_000008"	"g.45077876C>T"	""	"{PMID:Nardella 2018:30161288}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45038277C>T"	""	"pathogenic"	""
"0000880705"	"0"	"90"	"7"	"45077955"	"45077956"	"del"	"0"	"00006"	"CCM2_000037"	"g.45077955_45077956del"	""	"{PMID:Nardella 2018:30161288}"	""	"134_135delTG"	""	"Germline"	""	""	"0"	""	""	"g.45038356_45038357del"	""	"pathogenic"	""
"0000880706"	"11"	"90"	"7"	"45077955"	"45077956"	"del"	"0"	"00006"	"CCM2_000037"	"g.45077955_45077956del"	""	"{PMID:Nardella 2018:30161288}"	""	"134_135delTG"	""	"Germline"	""	""	"0"	""	""	"g.45038356_45038357del"	""	"pathogenic"	""
"0000880707"	"21"	"90"	"7"	"45077955"	"45077956"	"del"	"0"	"00006"	"CCM2_000037"	"g.45077955_45077956del"	""	"{PMID:Nardella 2018:30161288}"	""	"134_135delTG"	""	"Germline"	""	""	"0"	""	""	"g.45038356_45038357del"	""	"pathogenic"	""
"0000880708"	"0"	"90"	"7"	"45103516"	"45103516"	"subst"	"0"	"00006"	"CCM2_000053"	"g.45103516G>A"	""	"{PMID:Nardella 2018:30161288}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45063917G>A"	""	"pathogenic"	""
"0000880709"	"0"	"90"	"7"	"45077851"	"45078026"	"del"	"0"	"00006"	"CCM2_000038"	"g.(45039963_45077851)_(45078026_45103516)del"	""	"{PMID:Nardella 2018:30161288}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.(45000364_45038252)_(45038427_45063917)del"	""	"pathogenic"	""
"0000880710"	"0"	"90"	"7"	"45108071"	"45108072"	"del"	"0"	"00006"	"CCM2_000054"	"g.45108071_45108072del"	""	"{PMID:Nardella 2018:30161288}"	""	"502_503delAG"	""	"Germline"	""	""	"0"	""	""	"g.45068472_45068473del"	""	"pathogenic"	""
"0000880711"	"0"	"90"	"7"	"45112359"	"45112359"	"del"	"0"	"00006"	"CCM2_000055"	"g.45112359del"	""	"{PMID:Nardella 2018:30161288}"	""	"780delC"	""	"Germline"	""	""	"0"	""	""	"g.45072760del"	""	"pathogenic"	""
"0000880712"	"0"	"90"	"7"	"45113868"	"45114008"	"del"	"0"	"00006"	"CCM2_000039"	"g.(45113171_45113868)_(45114008_45115375)del"	""	"{PMID:Nardella 2018:30161288}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.(45073572_45074269)_(45074409_45075776)del"	""	"pathogenic"	""
"0000887903"	"0"	"90"	"7"	"45103548"	"45103549"	"del"	"0"	"02330"	"CCM2_000002"	"g.45103548_45103549del"	""	""	""	"CCM2(NM_001363458.2):c.236_237delAC (p.Y79Sfs*6), CCM2(NM_031443.3):c.236_237delAC (p.Y79Sfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000912763"	"0"	"30"	"7"	"45115647"	"45115647"	"subst"	"0.000114696"	"01804"	"CCM2_000056"	"g.45115647C>T"	""	""	""	"CCM2(NM_001029835.2):c.1389C>T (p.(Asp463=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924728"	"0"	"50"	"7"	"45067372"	"45067372"	"subst"	"0"	"02330"	"CCM2_000057"	"g.45067372C>G"	""	""	""	"CCM2(NM_001029835.2):c.69C>G (p.H23Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000924729"	"0"	"50"	"7"	"45104101"	"45104101"	"subst"	"0.000313202"	"01804"	"CCM2_000042"	"g.45104101G>A"	""	""	""	"CCM2(NM_001029835.2):c.391G>A (p.(Asp131Asn), p.D131N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000924730"	"0"	"30"	"7"	"45104124"	"45104124"	"subst"	"0.00971391"	"01804"	"CCM2_000014"	"g.45104124G>A"	""	""	""	"CCM2(NM_001029835.2):c.414G>A (p.(Ala138=)), CCM2(NM_031443.4):c.351G>A (p.A117=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924731"	"0"	"10"	"7"	"45111482"	"45111482"	"subst"	"0"	"02330"	"CCM2_000058"	"g.45111482A>T"	""	""	""	"CCM2(NM_001363458.2):c.868+11A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000924732"	"0"	"30"	"7"	"45113937"	"45113937"	"subst"	"0.00172046"	"01804"	"CCM2_000059"	"g.45113937G>A"	""	""	""	"CCM2(NM_001029835.2):c.1047G>A (p.(Gly349=)), CCM2(NM_001363458.2):c.1107G>A (p.G369=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924733"	"0"	"10"	"7"	"45115581"	"45115581"	"subst"	"0.00323984"	"02326"	"CCM2_000050"	"g.45115581G>A"	""	""	""	"CCM2(NM_001029835.2):c.1323G>A (p.(Glu441=)), CCM2(NM_001363458.2):c.1383G>A (p.E461=), CCM2(NM_031443.3):c.1260G>A (p.E420=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000948918"	"0"	"10"	"7"	"45113937"	"45113937"	"subst"	"0.00172046"	"02330"	"CCM2_000059"	"g.45113937G>A"	""	""	""	"CCM2(NM_001029835.2):c.1047G>A (p.(Gly349=)), CCM2(NM_001363458.2):c.1107G>A (p.G369=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000948919"	"0"	"30"	"7"	"45114019"	"45114019"	"subst"	"0.00252615"	"01804"	"CCM2_000029"	"g.45114019C>T"	""	""	""	"CCM2(NM_001029835.2):c.1117+12C>T (p.(=)), CCM2(NM_001363458.2):c.1177+12C>T, CCM2(NM_031443.3):c.1054+12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000964603"	"0"	"30"	"7"	"45113047"	"45113047"	"del"	"0.000880318"	"01804"	"CCM2_000060"	"g.45113047del"	""	""	""	"CCM2(NM_001029835.2):c.867-12del (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000964604"	"0"	"30"	"7"	"45115581"	"45115581"	"subst"	"0.00323984"	"01804"	"CCM2_000050"	"g.45115581G>A"	""	""	""	"CCM2(NM_001029835.2):c.1323G>A (p.(Glu441=)), CCM2(NM_001363458.2):c.1383G>A (p.E461=), CCM2(NM_031443.3):c.1260G>A (p.E420=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000964605"	"0"	"30"	"7"	"45115671"	"45115671"	"subst"	"0.000275872"	"01804"	"CCM2_000061"	"g.45115671G>C"	""	""	""	"CCM2(NM_001029835.2):c.*15G>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977728"	"0"	"30"	"7"	"45115662"	"45115662"	"subst"	"0.00295173"	"01804"	"CCM2_000032"	"g.45115662A>G"	""	""	""	"CCM2(NM_001029835.2):c.*6A>G (p.(=)), CCM2(NM_031443.3):c.*6A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000996539"	"0"	"30"	"7"	"45104112"	"45104112"	"subst"	"0.000553039"	"01804"	"CCM2_000062"	"g.45104112C>T"	""	""	""	"CCM2(NM_001029835.2):c.402C>T (p.(Leu134=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000996540"	"0"	"50"	"7"	"45112325"	"45112325"	"subst"	"8.13233E-6"	"01804"	"CCM2_000063"	"g.45112325A>G"	""	""	""	"CCM2(NM_031443.3):c.746A>G (p.(Asp249Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014359"	"0"	"10"	"7"	"45103558"	"45103558"	"subst"	"0.00186391"	"02330"	"CCM2_000013"	"g.45103558C>T"	""	""	""	"CCM2(NM_001363458.2):c.246C>T (p.P82=), CCM2(NM_031443.3):c.246C>T (p.P82=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001014360"	"0"	"10"	"7"	"45104157"	"45104157"	"subst"	"0.00248319"	"02330"	"CCM2_000064"	"g.45104157G>A"	""	""	""	"CCM2(NM_001363458.2):c.384G>A (p.E128=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001025403"	"0"	"30"	"7"	"45113054"	"45113054"	"subst"	"0.00235876"	"01804"	"CCM2_000026"	"g.45113054C>T"	""	""	""	"CCM2(NM_001029835.2):c.867-5C>T (p.?), CCM2(NM_031443.3):c.804-5C>T, CCM2(NM_031443.4):c.804-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001036391"	"0"	"10"	"7"	"45103558"	"45103558"	"subst"	"0.00186391"	"02326"	"CCM2_000013"	"g.45103558C>T"	""	""	""	"CCM2(NM_001363458.2):c.246C>T (p.P82=), CCM2(NM_031443.3):c.246C>T (p.P82=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001036392"	"0"	"50"	"7"	"45104135"	"45104135"	"subst"	"0"	"01804"	"CCM2_000065"	"g.45104135A>G"	""	""	""	"CCM2(NM_031443.4):c.362A>G (p.(Lys121Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001036393"	"0"	"50"	"7"	"45112368"	"45112368"	"subst"	"0"	"01804"	"CCM2_000066"	"g.45112368G>A"	""	""	""	"CCM2(NM_031443.4):c.789G>A (p.(Val263=))"	"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 CCM2
## Count = 101
"{{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}}"
"0000077017"	"00004616"	"90"	"319"	"0"	"319"	"0"	"c.319C>T"	"r.(?)"	"p.(Gln107*)"	"4"
"0000089480"	"00004616"	"70"	"236"	"0"	"237"	"0"	"c.236_237del"	"r.(?)"	"p.(Tyr79Serfs*6)"	"3"
"0000253818"	"00004616"	"10"	"1341"	"0"	"1341"	"0"	"c.*6A>G"	"r.(=)"	"p.(=)"	""
"0000264378"	"00004616"	"10"	"157"	"0"	"157"	"0"	"c.157G>A"	"r.(?)"	"p.(Val53Ile)"	""
"0000264379"	"00004616"	"10"	"351"	"0"	"351"	"0"	"c.351G>A"	"r.(?)"	"p.(Ala117=)"	""
"0000264380"	"00004616"	"10"	"358"	"0"	"358"	"0"	"c.358G>A"	"r.(?)"	"p.(Val120Ile)"	""
"0000264381"	"00004616"	"10"	"915"	"0"	"915"	"0"	"c.915G>A"	"r.(?)"	"p.(Thr305=)"	""
"0000269846"	"00004616"	"10"	"31"	"-10585"	"31"	"-10585"	"c.31-10585G>C"	"r.(=)"	"p.(=)"	""
"0000269847"	"00004616"	"10"	"157"	"0"	"157"	"0"	"c.157G>A"	"r.(?)"	"p.(Val53Ile)"	""
"0000269848"	"00004616"	"10"	"205"	"-230"	"205"	"-230"	"c.205-230T>G"	"r.(=)"	"p.(=)"	""
"0000269849"	"00004616"	"10"	"358"	"0"	"358"	"0"	"c.358G>A"	"r.(?)"	"p.(Val120Ile)"	""
"0000269850"	"00004616"	"10"	"472"	"127"	"472"	"127"	"c.472+127C>T"	"r.(=)"	"p.(=)"	""
"0000269851"	"00004616"	"30"	"573"	"0"	"573"	"0"	"c.573G>C"	"r.(?)"	"p.(Glu191Asp)"	""
"0000269853"	"00004616"	"90"	"745"	"1"	"745"	"1"	"c.745+1G>A"	"r.spl?"	"p.?"	""
"0000269854"	"00004616"	"30"	"745"	"23"	"745"	"23"	"c.745+23G>T"	"r.(=)"	"p.(=)"	""
"0000269855"	"00004616"	"10"	"915"	"0"	"915"	"0"	"c.915G>A"	"r.(?)"	"p.(Thr305=)"	""
"0000272831"	"00004616"	"10"	"31"	"-10585"	"31"	"-10585"	"c.31-10585G>C"	"r.(=)"	"p.(=)"	""
"0000272832"	"00004616"	"10"	"1354"	"0"	"1354"	"0"	"c.*19del"	"r.(?)"	"p.(=)"	""
"0000272833"	"00004616"	"10"	"1054"	"12"	"1054"	"12"	"c.1054+12C>T"	"r.(=)"	"p.(=)"	""
"0000272834"	"00004616"	"90"	"1075"	"0"	"1075"	"0"	"c.1075G>T"	"r.(?)"	"p.(Glu359Ter)"	""
"0000272835"	"00004616"	"10"	"157"	"0"	"157"	"0"	"c.157G>A"	"r.(?)"	"p.(Val53Ile)"	""
"0000272836"	"00004616"	"90"	"169"	"0"	"172"	"0"	"c.169_172del"	"r.(?)"	"p.(Arg57CysfsTer2)"	""
"0000272837"	"00004616"	"90"	"232"	"0"	"232"	"0"	"c.232G>T"	"r.(?)"	"p.(Gly78Ter)"	""
"0000272838"	"00004616"	"90"	"236"	"0"	"237"	"0"	"c.236_237del"	"r.(?)"	"p.(Tyr79SerfsTer6)"	""
"0000272839"	"00004616"	"30"	"246"	"0"	"246"	"0"	"c.246C>T"	"r.(?)"	"p.(Pro82=)"	""
"0000272840"	"00004616"	"90"	"30"	"2"	"30"	"2"	"c.30+2T>C"	"r.spl?"	"p.?"	""
"0000272841"	"00004616"	"10"	"30"	"95"	"30"	"95"	"c.30+95G>C"	"r.(=)"	"p.(=)"	""
"0000272842"	"00004616"	"90"	"30"	"0"	"30"	"0"	"c.30G>A"	"r.(?)"	"p.(Lys10=)"	""
"0000272843"	"00004616"	"10"	"358"	"0"	"358"	"0"	"c.358G>A"	"r.(?)"	"p.(Val120Ile)"	""
"0000272844"	"00004616"	"50"	"367"	"0"	"367"	"0"	"c.367G>C"	"r.(?)"	"p.(Ala123Pro)"	""
"0000272845"	"00004616"	"50"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000272846"	"00004616"	"50"	"455"	"0"	"455"	"0"	"c.455T>C"	"r.(?)"	"p.(Leu152Pro)"	""
"0000272848"	"00004616"	"90"	"55"	"0"	"55"	"0"	"c.55C>T"	"r.(?)"	"p.(Arg19Ter)"	""
"0000272849"	"00004616"	"90"	"564"	"0"	"571"	"0"	"c.564_571del"	"r.(?)"	"p.(Pro189GlyfsTer44)"	""
"0000272850"	"00004616"	"90"	"578"	"0"	"582"	"0"	"c.578_582del"	"r.(?)"	"p.(Cys193SerfsTer41)"	""
"0000272851"	"00004616"	"10"	"804"	"-5"	"804"	"-5"	"c.804-5C>T"	"r.spl?"	"p.?"	""
"0000272852"	"00004616"	"30"	"866"	"0"	"866"	"0"	"c.866G>A"	"r.(?)"	"p.(Ser289Asn)"	""
"0000272853"	"00004616"	"10"	"915"	"0"	"915"	"0"	"c.915G>A"	"r.(?)"	"p.(Thr305=)"	""
"0000353657"	"00004616"	"90"	"113"	"0"	"116"	"0"	"c.113_116del"	"r.(?)"	"p.(Glu38Glyfs*21)"	"2"
"0000353658"	"00004616"	"70"	"568"	"0"	"568"	"0"	"c.568G>A"	"r.(?)"	"p.(Val190Met)"	"5"
"0000369735"	"00004616"	"70"	"134"	"0"	"135"	"0"	"c.134_135del"	"r.(?)"	"p.(Val45Glyfs*6)"	"2"
"0000369777"	"00004616"	"70"	"-848"	"0"	"30"	"1"	"c.(?_-848)_(30+1_31-1)del"	"r.0?"	"p.0?"	"_1_1i"
"0000369778"	"00004616"	"70"	"31"	"-1"	"204"	"1"	"c.(30+1_31-1)_(204+1_205-1)del"	"r.?"	"p.?"	"1i_2i"
"0000369779"	"00004616"	"70"	"916"	"-1"	"1054"	"1"	"c.(915+1_916-1)_(1054+1_1055-1)del"	"r.?"	"p.?"	"8i_9i"
"0000392096"	"00004616"	"70"	"134"	"0"	"135"	"0"	"c.134_135del"	"r.(?)"	"p.(Val45Glyfs*6)"	"2"
"0000392099"	"00004616"	"70"	"134"	"0"	"135"	"0"	"c.134_135del"	"r.(?)"	"p.(Val45Glyfs*6)"	"14"
"0000394426"	"00004616"	"70"	"134"	"0"	"135"	"0"	"c.134_135del"	"r.(?)"	"p.(Val45Glyfs*6)"	""
"0000532086"	"00004616"	"70"	"204"	"1"	"204"	"1"	"c.204+1dup"	"r.spl?"	"p.?"	""
"0000532087"	"00004616"	"30"	"328"	"0"	"328"	"0"	"c.328G>A"	"r.(?)"	"p.(Asp110Asn)"	""
"0000532088"	"00004616"	"90"	"470"	"0"	"470"	"0"	"c.470dup"	"r.(?)"	"p.(Ala158SerfsTer78)"	""
"0000532089"	"00004616"	"90"	"579"	"0"	"579"	"0"	"c.579C>A"	"r.(?)"	"p.(Cys193Ter)"	""
"0000532090"	"00004616"	"90"	"596"	"0"	"596"	"0"	"c.596dup"	"r.(?)"	"p.(Ala200CysfsTer36)"	""
"0000532091"	"00004616"	"50"	"635"	"0"	"635"	"0"	"c.635T>C"	"r.(?)"	"p.(Leu212Pro)"	""
"0000532092"	"00004616"	"70"	"635"	"0"	"635"	"0"	"c.635T>C"	"r.(?)"	"p.(Leu212Pro)"	""
"0000532093"	"00004616"	"30"	"804"	"-5"	"804"	"-5"	"c.804-5C>T"	"r.spl?"	"p.?"	""
"0000532094"	"00004616"	"30"	"1091"	"0"	"1091"	"0"	"c.1091A>G"	"r.(?)"	"p.(His364Arg)"	""
"0000611090"	"00004616"	"50"	"431"	"0"	"431"	"0"	"c.431A>G"	"r.(?)"	"p.(Tyr144Cys)"	""
"0000611091"	"00004616"	"10"	"866"	"0"	"866"	"0"	"c.866G>A"	"r.(?)"	"p.(Ser289Asn)"	""
"0000652325"	"00004616"	"50"	"568"	"0"	"568"	"0"	"c.568G>A"	"r.(?)"	"p.(Val190Met)"	""
"0000655837"	"00004616"	"90"	"609"	"1"	"609"	"9"	"c.609+1_609+9del"	"r.spl?"	"p.?"	""
"0000678110"	"00004616"	"30"	"1054"	"12"	"1054"	"12"	"c.1054+12C>T"	"r.(=)"	"p.(=)"	""
"0000721466"	"00004616"	"50"	"355"	"0"	"357"	"0"	"c.355_357del"	"r.(?)"	"p.(Asn119del)"	""
"0000803159"	"00004616"	"10"	"1260"	"0"	"1260"	"0"	"c.1260G>A"	"r.(?)"	"p.(Glu420=)"	""
"0000860836"	"00004616"	"90"	"236"	"0"	"237"	"0"	"c.236_237del"	"r.(?)"	"p.(Tyr79SerfsTer6)"	""
"0000860837"	"00004616"	"90"	"468"	"0"	"468"	"0"	"c.468dup"	"r.(?)"	"p.(Thr157Aspfs*79)"	""
"0000880699"	"00004616"	"90"	""	"0"	""	"0"	"c.-146_(30+1_31-1){0}"	"r.0?"	"p.0?"	"_1_1i"
"0000880700"	"00004616"	"90"	""	"0"	""	"0"	"c.-146_(30+1_31-1){0}"	"r.0?"	"p.0?"	"_1_1i"
"0000880701"	"00004616"	"90"	""	"0"	""	"0"	"c.-146_(30+1_31-1){0}"	"r.0?"	"p.0?"	"_1_1i"
"0000880702"	"00004616"	"90"	""	"0"	""	"0"	"c.-146_(30+1_31-1){0}"	"r.0?"	"p.0?"	"_1_1i"
"0000880703"	"00004616"	"90"	"55"	"0"	"55"	"0"	"c.55C>T"	"r.(?)"	"p.(Arg19Ter)"	"2"
"0000880704"	"00004616"	"90"	"55"	"0"	"55"	"0"	"c.55C>T"	"r.(?)"	"p.(Arg19Ter)"	"2"
"0000880705"	"00004616"	"90"	"134"	"0"	"135"	"0"	"c.134_135del"	"r.(?)"	"p.(Val45GlyfsTer6)"	"2"
"0000880706"	"00004616"	"90"	"134"	"0"	"135"	"0"	"c.134_135del"	"r.(?)"	"p.(Val45GlyfsTer6)"	"2"
"0000880707"	"00004616"	"90"	"134"	"0"	"135"	"0"	"c.134_135del"	"r.(?)"	"p.(Val45GlyfsTer6)"	"2"
"0000880708"	"00004616"	"90"	"205"	"-1"	"205"	"-1"	"c.205-1G>A"	"r.spl"	"p.0?"	"3"
"0000880709"	"00004616"	"90"	"31"	"-1"	"204"	"1"	"c.(30+1_31-1)_(204+1_205-1)del"	"r.?"	"p.(Pro11_Lys68del)"	"2"
"0000880710"	"00004616"	"90"	"502"	"0"	"503"	"0"	"c.502_503del"	"r.(?)"	"p.(Leu169ValfsTer66)"	"5"
"0000880711"	"00004616"	"90"	"780"	"0"	"780"	"0"	"c.780del"	"r.(?)"	"p.(Tyr261ThrfsTer31)"	"7"
"0000880712"	"00004616"	"90"	"916"	"-1"	"1054"	"1"	"c.(915+1_916-1)_(1054+1_1055-1)del"	"r.?"	"p.(Leu306Valfs*2)"	"9"
"0000887903"	"00004616"	"90"	"236"	"0"	"237"	"0"	"c.236_237del"	"r.(?)"	"p.(Tyr79SerfsTer6)"	""
"0000912763"	"00004616"	"30"	"1326"	"0"	"1326"	"0"	"c.1326C>T"	"r.(?)"	"p.(Asp442=)"	""
"0000924728"	"00004616"	"50"	"31"	"-10480"	"31"	"-10480"	"c.31-10480C>G"	"r.(=)"	"p.(=)"	""
"0000924729"	"00004616"	"50"	"328"	"0"	"328"	"0"	"c.328G>A"	"r.(?)"	"p.(Asp110Asn)"	""
"0000924730"	"00004616"	"30"	"351"	"0"	"351"	"0"	"c.351G>A"	"r.(?)"	"p.(Ala117=)"	""
"0000924731"	"00004616"	"10"	"746"	"-843"	"746"	"-843"	"c.746-843A>T"	"r.(=)"	"p.(=)"	""
"0000924732"	"00004616"	"30"	"984"	"0"	"984"	"0"	"c.984G>A"	"r.(?)"	"p.(Gly328=)"	""
"0000924733"	"00004616"	"10"	"1260"	"0"	"1260"	"0"	"c.1260G>A"	"r.(?)"	"p.(Glu420=)"	""
"0000948918"	"00004616"	"10"	"984"	"0"	"984"	"0"	"c.984G>A"	"r.(?)"	"p.(Gly328=)"	""
"0000948919"	"00004616"	"30"	"1054"	"12"	"1054"	"12"	"c.1054+12C>T"	"r.(=)"	"p.(=)"	""
"0000964603"	"00004616"	"30"	"804"	"-12"	"804"	"-12"	"c.804-12del"	"r.(=)"	"p.(=)"	""
"0000964604"	"00004616"	"30"	"1260"	"0"	"1260"	"0"	"c.1260G>A"	"r.(?)"	"p.(Glu420=)"	""
"0000964605"	"00004616"	"30"	"1350"	"0"	"1350"	"0"	"c.*15G>C"	"r.(=)"	"p.(=)"	""
"0000977728"	"00004616"	"30"	"1341"	"0"	"1341"	"0"	"c.*6A>G"	"r.(=)"	"p.(=)"	""
"0000996539"	"00004616"	"30"	"339"	"0"	"339"	"0"	"c.339C>T"	"r.(?)"	"p.(=)"	""
"0000996540"	"00004616"	"50"	"746"	"0"	"746"	"0"	"c.746A>G"	"r.(?)"	"p.(Asp249Gly)"	""
"0001014359"	"00004616"	"10"	"246"	"0"	"246"	"0"	"c.246C>T"	"r.(?)"	"p.(Pro82=)"	""
"0001014360"	"00004616"	"10"	"384"	"0"	"384"	"0"	"c.384G>A"	"r.(?)"	"p.(=)"	""
"0001025403"	"00004616"	"30"	"804"	"-5"	"804"	"-5"	"c.804-5C>T"	"r.spl?"	"p.?"	""
"0001036391"	"00004616"	"10"	"246"	"0"	"246"	"0"	"c.246C>T"	"r.(?)"	"p.(Pro82=)"	""
"0001036392"	"00004616"	"50"	"362"	"0"	"362"	"0"	"c.362A>G"	"r.(?)"	"p.(Lys121Arg)"	""
"0001036393"	"00004616"	"50"	"789"	"0"	"789"	"0"	"c.789G>A"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 26
"{{screeningid}}"	"{{variantid}}"
"0000048193"	"0000077017"
"0000058793"	"0000089480"
"0000154177"	"0000353657"
"0000154178"	"0000353658"
"0000165916"	"0000369735"
"0000165950"	"0000369777"
"0000165951"	"0000369778"
"0000165952"	"0000369779"
"0000171741"	"0000392096"
"0000171742"	"0000392099"
"0000174619"	"0000394426"
"0000295636"	"0000652325"
"0000420363"	"0000880699"
"0000420364"	"0000880700"
"0000420365"	"0000880701"
"0000420366"	"0000880702"
"0000420367"	"0000880703"
"0000420368"	"0000880704"
"0000420369"	"0000880705"
"0000420370"	"0000880706"
"0000420371"	"0000880707"
"0000420372"	"0000880708"
"0000420373"	"0000880709"
"0000420374"	"0000880710"
"0000420375"	"0000880711"
"0000420376"	"0000880712"