### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IL12RB1)
# 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}}"
"IL12RB1"	"interleukin 12 receptor, beta 1"	"19"	"p13.1"	"unknown"	"LRG_72"	"UD_132118226075"	""	"https://www.LOVD.nl/IL12RB1"	"IL12RB1base <http://structure.bmc.lu.se/idbase/IL12RB1base/>"	"1"	"5971"	"3594"	"601604"	"1"	"1"	"1"	"1"	"We gratefully acknowledge the efforts of <b>Esther van de Vosse</b>, curating this database until 2020. \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/IL12RB1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2022-06-27 15:52:50"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00009952"	"IL12RB1"	"transcript variant 1"	"001"	"NM_005535.1"	""	"NP_005526.1"	""	""	""	"-64"	"2036"	"1989"	"18197697"	"18170371"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04516"	"IMD30"	"immunodeficiency, type 30 (IMD-30)"	"AR"	"614891"	""	""	""	"00000"	"2015-09-23 10:25:22"	"00006"	"2021-12-10 21:51:32"
"05292"	"IMD"	"immunodeficiency (IMD)"	""	""	""	""	""	"00006"	"2017-06-24 18:16:32"	"00006"	"2017-10-24 17:01:05"
"05464"	"HNPCC (Lynch)"	"cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)"	""	""	""	""	""	"00006"	"2018-08-02 08:56:34"	"00006"	"2025-07-24 09:00:47"
"05793"	"IMD74"	"immunodeficiency, type 74, COVID19-related, X-linked"	"XLR"	"301051"	""	""	""	"00006"	"2020-07-24 22:16:50"	"00006"	"2025-08-26 15:50:59"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"IL12RB1"	"04516"


## Individuals ## Do not remove or alter this header ##
## Count = 190
"{{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}}"
"00260658"	""	""	""	"1"	""	"00000"	"http://www.ncbi.nlm.nih.gov/snp/"	"-"	""	"?"	""	""	"0"	""	""	"-"	""
"00260830"	""	""	""	"1"	""	"03027"	"{PMID:Louvain de Souza 2017:28450854}"	"this patient was previously entered in the database as: UENF - Family 1528 (F1)"	"M"	"yes"	"Brazil"	""	"0"	""	""	""	""
"00260950"	""	""	""	"2"	""	"03027"	"{PMID:Louvain de Souza 2017:28450854}"	"1 family 2 patients; before publication in database as: UENF - Family 830 (F1)"	"M"	"no"	"Brazil"	""	"0"	""	""	""	""
"00260951"	""	""	""	"1"	""	"03027"	"{PMID:Louvain de Souza 2017:28450854}"	"before publication this individual was in the database as: UENF - Family 1212 (F1)"	"M"	"no"	"Brazil"	""	"0"	""	""	""	""
"00260952"	""	""	""	"1"	""	"00000"	"{PMID: Aytekin 2011:21905505}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260953"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260954"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260955"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00260956"	""	""	""	"2"	""	"00000"	"personal communication Ozden Sanal"	"1 family 2 patients; data not published yet"	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260957"	""	""	""	"1"	""	"00000"	"personal communication Ozden Sanal"	"data not published yet"	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260958"	""	""	""	"1"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260959"	""	""	""	"1"	""	"00000"	"{PMID:Tan 2016:28276206}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260960"	""	""	""	"1"	""	"00000"	"{PMID:Tan 2016:28276206}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260961"	""	""	""	"1"	""	"00000"	"{PMID:Tan 2016:28276206}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260962"	""	""	""	"1"	""	"00000"	"{PMID:Tan 2016:28276206}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260963"	""	""	""	"1"	""	"00000"	"{PMID: Elloumi-Zghal 2002:11992283}"	""	"M"	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00260964"	""	""	""	"1"	""	"00000"	"{PMID: Haerynck 2008:18940359}"	""	"F"	"no"	"Belgium"	""	"0"	""	""	""	""
"00260965"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	"12591909-17.II-1 asymptomatic brother with same mutations"	"M"	"no"	"France"	""	"0"	""	""	""	""
"00260966"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"F"	"no"	"France"	""	"0"	""	""	""	""
"00260967"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	"12591909-21.II.1 asymptomatic sister with same mutation"	"F"	"no"	"Belgium"	""	"0"	""	""	""	""
"00260968"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00260969"	""	""	""	"1"	""	"01723"	"{PMID:de Jong 1998:9603733}"	""	"F"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00260970"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"no"	"Chile"	""	"0"	""	""	""	""
"00260971"	""	""	""	"1"	""	"00000"	"{PMID:Strickler 2014:25327198} and personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	"initially entered in the database as: Rockefeller -family 5"	"M"	"no"	"Chile"	""	"0"	""	""	""	""
"00260972"	""	""	""	"1"	""	"00000"	"{PMID:Ramirez-Alejo 2013:23952477}"	"also reported in: Ramirez-Alejo Immunology2011 P58.5"	"M"	"yes"	"Mexico"	""	"0"	""	""	""	""
"00260973"	""	""	""	"2"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	"F"	"?"	"Turkey"	""	"0"	""	""	""	""
"00260974"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"M"	"no"	"Brazil"	""	"0"	""	""	""	""
"00260975"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00260976"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00260977"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00260978"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"?"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00260979"	""	""	""	"1"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00260980"	""	""	""	"1"	""	"00000"	"{PMID:Schepers 2013:24114017}"	""	"F"	"no"	"Belgium"	""	"0"	""	""	""	""
"00260981"	""	""	""	"1"	""	"00000"	"{PMID: Luangwedchakarn 2009:19839503}"	"Note: patient also has neurofibromatosis"	"M"	"no"	"Thailand"	""	"0"	""	""	""	""
"00260982"	""	""	""	"2"	""	"01723"	"{PMID: Lichtenauer-Kaligis 2003:12594833}"	"1 family 2 patients; 12594833-B2 affected brother, this patient also described in {PMID 16418797: Sanal 2006} as case 1"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260983"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"F"	"no"	"Slovakia (Slovak Republic)"	""	"0"	""	""	""	""
"00260984"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"F"	"no"	"Slovakia (Slovak Republic)"	""	"0"	""	""	""	""
"00260985"	""	""	""	"1"	""	"00000"	"{PMID:Alinejad Dizaj 2018:29256176}"	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	""
"00260986"	""	""	""	"1"	""	"00000"	"{PMID: Boisson-Dupuis 2011:21533230}"	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00260987"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"no"	"Brazil"	""	"0"	""	""	""	""
"00260988"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Venezuela"	""	"0"	""	""	""	""
"00260989"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"no"	"Poland"	""	"0"	""	""	""	""
"00260990"	""	""	""	"1"	""	"00000"	"{PMID:Alinejad Dizaj 2018:29256176}"	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00260991"	""	""	""	"1"	""	"00000"	"{PMID: Aksu 2001:11368122}"	"Note: one sister of the index pateint died at age 1"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260992"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260993"	""	""	""	"1"	""	"01723"	"{PMID:Sanal 2006:16418797}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260994"	""	""	""	"1"	""	"00000"	"{PMID: Kutukculer 2006:16615980}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260995"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2008:18591412}"	""	"M"	""	"Turkey"	""	"0"	""	""	""	""
"00260996"	""	""	""	"1"	""	"01723"	"{PMID: van de Vosse 2010:20213287}"	""	"F"	"yes"	"Netherlands"	""	"0"	""	""	"Turkey"	""
"00260997"	""	""	""	"1"	""	"00000"	"{PMID: Ozen 2006:16531420}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260998"	""	""	""	"3"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00260999"	""	""	""	"1"	""	"00000"	"personal communication Ozden Sanal"	"parents are form neighbouring small villages, therefore possibly distantly related/consanguineous   ; ; data not published yet"	""	"?"	"Turkey"	""	"0"	""	""	""	""
"00261000"	""	""	""	"1"	""	"00000"	"{PMID:Tan 2016:28276206}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261001"	""	""	""	"1"	""	"00000"	"{PMID:Tan 2016:28276206}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261002"	""	""	""	"1"	""	"00000"	"{PMID:Tan 2016:28276206}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261003"	""	""	""	"2"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	"1 family 2 patients; 12591909-26.II.1 deceased affected brother"	"F"	"yes"	"Bosnia and Herzegovina"	""	"0"	""	""	""	""
"00261004"	""	""	""	"1"	""	"00000"	"{PMID: Elloumi-Zghal 2002:11992283}"	""	"F"	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00261005"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"F"	"yes"	"Qatar"	""	"0"	""	""	""	""
"00261006"	""	""	""	"2"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	"1 family 2 patients; 12591909-12.II.4 affected sister"	"M"	"yes"	"Qatar"	""	"0"	""	""	""	""
"00261007"	""	""	""	"1"	""	"00000"	"{PMID: Ehlayel 2008:18718650}"	"patient also has a mutation in AT gene"	"F"	"yes"	"Qatar"	""	"0"	""	""	"Arab"	""
"00261008"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	"family of 12.II.1 in {PMID 12591909: Fieschi 2003}"	"M"	"yes"	"Qatar"	""	"0"	""	""	""	""
"00261009"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"yes"	"Qatar"	""	"0"	""	""	""	""
"00261010"	""	""	""	"2"	""	"00000"	"{PMID: Vinh 2011:21258095}"	"1 family 2 patients; 21258095-P2 affected brother"	"F"	"yes"	"United States"	""	"0"	""	""	"Palestine"	""
"00261011"	""	""	""	"1"	""	"00000"	"personal communication Ben Zion Garty"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Arab"	""
"00261012"	""	""	""	"1"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	"F"	"yes"	"Israel"	""	"0"	""	""	""	""
"00261013"	""	""	""	"1"	""	"01723"	"{PMID:de Jong 1998:9603733}"	"also reported in {PMID 12594833: Lichtenauer-Kaligis 2003}"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261014"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"F"	"yes"	""	""	"0"	""	""	"Turkey"	""
"00261015"	""	""	""	"2"	""	"00000"	"{PMID:Strickler 2014:25327198} and personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	"1 family 2 patients; initially entered in this database as: Rockefeller -family 11"	"F"	"yes"	"Chile"	""	"0"	""	""	""	""
"00261016"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00261017"	""	""	""	"1"	""	"00000"	"{PMID:Ramirez-Alejo 2013:23952477}"	"A sister died of sepsis 40 days after birth, no gnetic analysis performed at the time.; This patient first reported in abstract: Ramirez-Alejo CIS2012 P398"	"F"	"no"	"Mexico"	""	"0"	""	""	""	""
"00261018"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2008:18591412}"	""	"F"	""	"Turkey"	""	"0"	""	""	""	""
"00261019"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2008:18591412}"	""	"M"	""	"Turkey"	""	"0"	""	""	""	""
"00261020"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261021"	""	""	""	"1"	""	"01723"	"{PMID: Lichtenauer-Kaligis 2003:12594833}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261022"	""	""	""	"1"	""	"00000"	"{PMID:Ramirez-Alejo 2013:23952477}"	""	"F"	"no"	"Mexico"	""	"0"	""	""	""	""
"00261023"	""	""	""	"1"	""	"00000"	"{PMID: Jinapongsananuruk 2012:22523911}"	""	"M"	"no"	"Thailand"	""	"0"	""	""	""	""
"00261024"	""	""	""	"1"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	"F"	"no"	"Russian Federation"	""	"0"	""	""	""	""
"00261025"	""	""	""	"1"	""	"00000"	"{PMID: Tanir 2006:16501992}"	""	"M"	""	"Turkey"	""	"0"	""	""	""	""
"00261026"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	"1 family 2 patients +1 previous; this patient and #56 are family of 16501992-3;"	"M"	"?"	"Turkey"	""	"0"	""	""	""	""
"00261027"	""	""	""	"1"	""	"00000"	"{PMID:Gokturk 2016:28266204}"	"previously entered in this database as: Rockefeller -family 16   by personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261028"	""	""	""	"1"	""	"00000"	"{PMID: Lee 2009:18972195}"	""	"M"	"no"	"Taiwan"	""	"0"	""	""	""	""
"00261029"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"no"	"China"	""	"0"	""	""	""	""
"00261030"	""	""	""	"1"	""	"00000"	"{PMID: Sakai 2001:11313259}"	""	"M"	"yes"	"Japan"	""	"0"	""	""	""	""
"00261031"	""	""	""	"2"	""	"00000"	"{PMID: Altare 2001:11424023}"	""	"M"	"yes"	"Morocco"	""	"0"	""	""	""	""
"00261032"	""	""	""	"1"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	"M"	"?"	"Turkey"	""	"0"	""	""	"living in Belgium"	""
"00261033"	""	""	""	"1"	""	"00000"	"{PMID:Ramirez-Alejo 2013:23952477}"	""	"M"	"yes"	"Mexico"	""	"0"	""	""	""	""
"00261034"	""	""	""	"1"	""	"00000"	"{PMID: Scheuerman 2007:17710793}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Bedouin Arab"	""
"00261035"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	"1 family 2 patients +1 previous; family of previously reported patient in {PMID 17710793: Scheuerman 2007}; sibling 21057261-61 is asymptomatic;"	"F"	"yes"	"Israel"	""	"0"	""	""	"Arab"	""
"00261036"	""	""	""	"4"	""	"00000"	"{PMID: Staretz-Haham 2003:12830418}{PMID:Ling 2016:26761636}"	"1 family 1 patient +3 additional; index patient also published as 10.II.2 in {PMID 12591909: Fieschi 2003}; cousins published in {PMID26761636:Ling 2016};"	"M"	"yes"	"Israel"	""	"0"	""	""	"Bedouin Arab"	""
"00261037"	""	""	""	"1"	""	"00000"	"{PMID: Tanir 2006:16501992}"	""	"F"	""	"Turkey"	""	"0"	""	""	""	""
"00261038"	""	""	""	"2"	""	"01723"	"{PMID: Lichtenauer-Kaligis 2003:12594833}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261039"	""	""	""	"2"	""	"01723"	"{PMID: Lichtenauer-Kaligis 2003:12594833}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261040"	""	""	""	"2"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	"1 family 2 patients; 12591909-6.II.3 affected sib"	"F"	"yes"	"(Sweden)"	""	"0"	""	""	"Turkish Kurd"	""
"00261041"	""	""	""	"2"	""	"01723"	"{PMID:Pulickal 2008:18204084}"	"1 family 2 patients; Note: sister died at age 4 of disseminated BCG infection, no genetic analysis"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261042"	""	""	""	"1"	""	"00000"	"{PMID: Tanir 2006:16501992}"	""	"M"	""	"Turkey"	""	"0"	""	""	""	""
"00261043"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261044"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261045"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261046"	""	""	""	"1"	""	"00000"	"{PMID: Filiz 2012:23004925}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261047"	""	""	""	"2"	""	"00000"	"Zinovieva ESID2012 P605"	"1 family 2 patients or 2 families 1 patient; two sisters or two unrelated patients?"	"F"	"?"	"Russian Federation"	""	"0"	""	""	""	""
"00261048"	""	""	""	"1"	""	"00000"	""	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261049"	""	""	""	"1"	""	"00000"	"personal communication Ozden Sanal"	"data not published yet"	""	"no"	"Turkey"	""	"0"	""	""	""	""
"00261050"	""	""	""	"1"	""	"00000"	"{PMID:Parvaneh 2016:27873456}"	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	""
"00261051"	""	""	""	"1"	""	"00000"	"{PMID:Tan 2016:28276206}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261052"	""	""	""	"1"	""	"00000"	"{PMID: Altare 1998:9603732}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261053"	""	""	""	"1"	""	"00000"	"{PMID: Schejbel 2011:21812800}"	""	"M"	"yes"	"Faroe Islands"	""	"0"	""	""	""	""
"00261054"	""	""	""	"2"	""	"00000"	"Falcao  CIS2012 P405"	""	"M"	"yes"	"Brazil"	""	"0"	""	""	""	""
"00261055"	""	""	""	"1"	""	"00000"	"{PMID:Alinejad Dizaj 2018:29256176}"	""	"M"	"no"	"Iran"	""	"0"	""	""	""	""
"00261056"	""	""	""	"2"	""	"00000"	"{PMID: Lee 2008:17387515}"	"1 family 2 patients; 17387515-P2 brother that died at age 6 of disseminated TB, no genetics peformed"	"F"	"no"	"China"	""	"0"	""	""	""	""
"00261057"	""	""	""	"1"	""	"00000"	"{PMID: Xie 2008:19099833}"	""	"F"	""	"China"	""	"0"	""	""	""	""
"00261058"	""	""	""	"1"	""	"00000"	"{PMID:Ramirez-Alejo 2013:23952477}"	""	"F"	"yes"	"Mexico"	""	"0"	""	""	""	""
"00261059"	""	""	""	"1"	""	"00000"	"Franco ESID2012 P865"	""	"M"	"yes"	"Colombia"	""	"0"	""	""	""	""
"00261060"	""	""	""	"1"	""	"00000"	"{PMID: Altare 1998:9603732}"	""	"F"	"yes"	"Morocco"	""	"0"	""	""	""	""
"00261061"	""	""	""	"1"	""	"00000"	"{PMID: Boisson-Dupuis 2011:21533230}"	""	"M"	"yes"	"Morocco"	""	"0"	""	""	""	""
"00261062"	""	""	""	"1"	""	"00000"	"{PMID:Ailal 2014:25445126}"	""	"M"	"yes"	"Morocco"	"3y"	"0"	""	""	""	""
"00261063"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00261064"	""	""	""	"2"	""	"03004"	"{PMID:Gimenez-Sanchez 2013:24064560}"	""	"F"	"yes"	"Spain"	""	"0"	""	""	"Spain"	""
"00261065"	""	""	""	"1"	""	"00000"	"{PMID: Ozbek 2005:15736007}"	"one of the patient\'s sisters had died of unknown infection at 1 y."	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261066"	""	""	""	"1"	""	"00000"	"{PMID: Tabarsi 2011:21487897}"	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00261067"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"no"	"Iran"	""	"0"	""	""	""	""
"00261068"	""	""	""	"1"	""	"00000"	"{PMID:Sanal 2006:16418797}"	""	""	""	"Cameroon"	""	"0"	""	""	""	""
"00261069"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"no"	"Poland"	""	"0"	""	""	""	""
"00261070"	""	""	""	"1"	""	"01723"	"{PMID: de Jong 1998:9603733}"	"autosomal recessive IL12RB1 deficiency"	"F"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00261071"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"M"	"yes"	"France"	""	"0"	""	""	""	""
"00261072"	""	""	""	"1"	""	"00000"	"{PMID:Sarrafzadeh 2016:27141500}"	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	""
"00261073"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"no"	"Ukraine"	""	"0"	""	""	""	""
"00261074"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00261075"	""	""	""	"1"	""	"00000"	"{PMID:Ouederni 2014:24186907}"	""	"F"	"?"	"Iran"	""	"0"	""	""	""	""
"00261076"	""	""	""	"2"	""	"00000"	"{PMID: Alangari 2011:21234109}"	"1 family 2 patients; brother of index pateint also affected"	"F"	"no"	"Saudi Arabia"	""	"0"	""	""	""	""
"00261077"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"no"	"Saudi Arabia"	""	"0"	""	""	""	""
"00261078"	""	""	""	"1"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	"F"	"yes"	""	""	"0"	""	""	""	""
"00261079"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00261080"	""	""	""	"1"	""	"00000"	"{PMID:Ouederni 2014:24186907}"	""	"M"	""	""	""	"0"	""	""	""	""
"00261081"	""	""	""	"1"	""	"00000"	"{PMID:Ouederni 2014:24186907}"	""	"M"	"?"	"Brazil"	""	"0"	""	""	""	""
"00261082"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00261083"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"no"	"Ukraine"	""	"0"	""	""	""	""
"00261084"	""	""	""	"1"	""	"00000"	"{PMID: Asilsoy 2009:19379268}"	""	"M"	"no"	"Turkey"	""	"0"	""	""	""	""
"00261085"	""	""	""	"1"	""	"00000"	"{PMID: Pedraza 2010:20855390}"	""	"M"	"no"	"Mexico"	""	"0"	""	""	"mestizo (white/Amerindian)"	""
"00261086"	""	""	""	"1"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	"not published yet"	"F"	"no"	"France"	""	"0"	""	""	""	""
"00261087"	""	""	""	"1"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	"living in France"	""
"00261088"	""	""	""	"1"	""	"00000"	"{PMID: Akar 2014:24678409}"	""	"F"	"yes"	"Turkey"	"16y"	"0"	""	""	""	""
"00261089"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"F"	"no"	"France"	""	"0"	""	""	""	""
"00261090"	""	""	""	"1"	""	"01723"	"{PMID: Potjewijd 2012:22695533}"	""	"M"	"?"	"Netherlands"	""	"0"	""	""	""	""
"00261091"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"?"	"India"	""	"0"	""	""	""	""
"00261092"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00261093"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"no"	"Argentina"	""	"0"	""	""	""	""
"00261094"	""	""	""	"3"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	"1 family 3 patients; 12591909-4.II.2 deceased sib, genotype not determined; 12591909-4.II.3 affected sib"	"M"	"yes"	"Cyprus"	""	"0"	""	""	""	""
"00261095"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00261096"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	"12591909-23.II.2 asymptomatic sister with same mutations"	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00261097"	""	""	""	"1"	""	"00000"	"{PMID: Rosenzweig 2006:16181679}"	""	"M"	"?"	"Argentina"	""	"0"	""	""	""	""
"00261098"	""	""	""	"1"	""	"00000"	"{PMID:Yancoski 2009:19460324}"	""	"?"	"no"	"Argentina"	""	"0"	""	""	""	""
"00261099"	""	""	""	"1"	""	"00000"	"{PMID:Yancoski 2009:19460324}"	""	"?"	"no"	"Argentina"	""	"0"	""	""	""	""
"00261100"	""	""	""	"1"	""	"00000"	"{PMID:Yancoski 2009:19460324}"	""	"?"	"no"	"Argentina"	""	"0"	""	""	""	""
"00261101"	""	""	""	"1"	""	"00000"	"{PMID:Yancoski 2009:19460324}"	"2 mutations found, 1 not specified"	"?"	"no"	"Argentina"	""	"0"	""	""	""	""
"00261102"	""	""	""	"1"	""	"00000"	"{PMID:Pedraza 2010:20855390},  {PMID:de Beaucoudrey 2010:21057261}"	"2 mutations, one mutation not specified"	"?"	"no"	"Argentina"	""	"0"	""	""	""	""
"00261103"	""	""	""	"1"	""	"00000"	"{PMID: Gruenberg 2009:19910038}"	""	"F"	"no"	"United States"	""	"0"	""	""	""	""
"00261104"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00261105"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	"note that of only one of the alleles the mutation is known, the other is unknown"	"M"	"no"	"Argentina"	""	"0"	""	""	""	""
"00261106"	""	""	""	"1"	""	"00000"	"{PMID:Tsumura 2012:22573496}"	""	"M"	"no"	"Argentina"	""	"0"	""	""	""	""
"00261107"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"no"	"Iran"	""	"0"	""	""	""	""
"00261108"	""	""	""	"1"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00261109"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"no"	""	""	"0"	""	""	"French West Indies"	""
"00261110"	""	""	""	"1"	""	"00000"	"{PMID: Cleary 2003:12496448}"	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00261111"	""	""	""	"3"	""	"00000"	"{PMID: Caragol 2003:12856223}"	"1 family 3 patients; 12856223-1; 12856223-2 ; 12856223-3; 3 girls from 1 family, 3rd girl asymptomatic"	"F"	"no"	"Spain"	""	"0"	""	""	""	""
"00261112"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00261113"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"M"	"no"	"Sri Lanka"	""	"0"	""	""	""	""
"00261114"	""	""	""	"3"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	"1 family 3 patients; 12591909-24.II.1 asymptomatic siter with same mutations; 12591909-24.II.3 affected sister"	"F"	""	"Spain"	""	"0"	""	""	""	""
"00261115"	""	""	""	"1"	""	"00000"	"{PMID: Fieschi 2003:12591909}"	""	"F"	"no"	"Spain"	""	"0"	""	""	""	""
"00261116"	""	""	""	"2"	""	"00000"	"{PMID: Lee 2008:17387515}"	"1 family 2 patients; 17387515-P4 brother died of disseminated BCG at 1 year, no genetic analyses performed"	"F"	"no"	"China"	""	"0"	""	""	""	""
"00261117"	""	""	""	"2"	""	"00000"	"{PMID:de Beaucoudrey 2010:21057261}"	"1 family 2 patients; patients also described in de Beaucoudrey et al 2010 as patient 126 and 127.  Third patient in family personal communication Boisson-Dupuis and Bustamante (Rockefelle-family 4)"	"F"	"yes"	"Turkey"	""	"0"	""	""	"Turkish (living in France)"	""
"00261118"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"yes"	"Spain"	""	"0"	""	""	""	""
"00261119"	""	""	""	"2"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"M"	"no"	"Mexico"	""	"0"	""	""	""	""
"00261120"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	""
"00261121"	""	""	""	"1"	""	"00000"	"{PMID: de Beaucoudrey 2010:21057261}"	""	"F"	"no"	"Saudi Arabia"	""	"0"	""	""	""	""
"00261122"	""	""	""	"1"	""	"00000"	"{PMID: Pedraza-Sanchez 2010:20171917}"	""	"F"	"no"	"Mexico"	""	"0"	""	""	"Mestizo"	""
"00261123"	""	""	""	"2"	""	"00000"	"{PMID: Pedraza-Sanchez 2010:20171917}"	""	"M"	"no"	"Mexico"	""	"0"	""	""	"Mestizo"	""
"00261124"	""	""	""	"1"	""	"00000"	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00261125"	""	""	""	"1"	""	"00000"	"{PMID:Zahid 2014:25544967}"	""	"M"	"yes"	"Pakistan"	"7y"	"0"	""	""	""	""
"00261126"	""	""	""	"2"	""	"00000"	"{PMID:Sarrafzadeh 2016:27141500}"	"patient 1 also oral candidiasis"	"M"	"no"	"Iran"	""	"0"	""	""	""	""
"00261127"	""	""	""	"1"	""	"00000"	"{PMID:Khamassi 2015:26578053}"	""	"M"	"no"	"Tunisia"	""	"0"	""	""	""	""
"00276107"	""	""	""	"1"	""	"03308"	""	""	"?"	""	"Spain"	""	""	""	""	"European Non-Finish"	""
"00276109"	""	""	""	"1"	""	"03308"	""	""	"?"	"?"	"Spain"	""	""	""	""	"European Non-Finish"	""
"00292065"	""	""	""	"8"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292066"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00334361"	""	""	""	"1"	""	"04011"	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	"analysis 233 patients"	""	""	"China"	""	""	""	""	""	""
"00335009"	""	""	""	"1"	""	"04011"	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	"analysis 233 patients"	""	""	"China"	""	""	""	""	""	""
"00335016"	""	""	""	"1"	""	"04011"	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	"analysis 233 patients"	""	""	"China"	""	""	""	""	""	""
"00335033"	""	""	""	"1"	""	"04011"	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	"analysis 233 patients"	""	""	"China"	""	""	""	""	""	""
"00361998"	""	""	""	"1"	""	"00000"	"{PMID:Duvvari 2016:27007659}"	"patient"	""	""	"Netherlands"	""	"0"	""	""	"white"	"Pat1AB"
"00433080"	""	""	""	"1"	""	"00006"	"{PMID:Stray-Pedersen 2017:27577878}"	""	"F"	""	"Ecuador"	""	"0"	""	""	""	"Pat56,1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 190
"{{individualid}}"	"{{diseaseid}}"
"00260658"	"00000"
"00260830"	"04516"
"00260950"	"04516"
"00260951"	"04516"
"00260952"	"04516"
"00260953"	"04516"
"00260954"	"04516"
"00260955"	"04516"
"00260956"	"04516"
"00260957"	"04516"
"00260958"	"04516"
"00260959"	"04516"
"00260960"	"04516"
"00260961"	"04516"
"00260962"	"04516"
"00260963"	"04516"
"00260964"	"04516"
"00260965"	"04516"
"00260966"	"04516"
"00260967"	"04516"
"00260968"	"04516"
"00260969"	"04516"
"00260970"	"04516"
"00260971"	"04516"
"00260972"	"04516"
"00260973"	"04516"
"00260974"	"04516"
"00260975"	"04516"
"00260976"	"04516"
"00260977"	"04516"
"00260978"	"04516"
"00260979"	"04516"
"00260980"	"04516"
"00260981"	"04516"
"00260982"	"04516"
"00260983"	"04516"
"00260984"	"04516"
"00260985"	"04516"
"00260986"	"04516"
"00260987"	"04516"
"00260988"	"04516"
"00260989"	"04516"
"00260990"	"04516"
"00260991"	"04516"
"00260992"	"04516"
"00260993"	"04516"
"00260994"	"04516"
"00260995"	"04516"
"00260996"	"04516"
"00260997"	"04516"
"00260998"	"04516"
"00260999"	"04516"
"00261000"	"04516"
"00261001"	"04516"
"00261002"	"04516"
"00261003"	"04516"
"00261004"	"04516"
"00261005"	"04516"
"00261006"	"04516"
"00261007"	"04516"
"00261008"	"04516"
"00261009"	"04516"
"00261010"	"04516"
"00261011"	"04516"
"00261012"	"04516"
"00261013"	"04516"
"00261014"	"04516"
"00261015"	"04516"
"00261016"	"04516"
"00261017"	"04516"
"00261018"	"04516"
"00261019"	"04516"
"00261020"	"04516"
"00261021"	"04516"
"00261022"	"04516"
"00261023"	"04516"
"00261024"	"04516"
"00261025"	"04516"
"00261026"	"04516"
"00261027"	"04516"
"00261028"	"04516"
"00261029"	"04516"
"00261030"	"04516"
"00261031"	"04516"
"00261032"	"04516"
"00261033"	"04516"
"00261034"	"04516"
"00261035"	"04516"
"00261036"	"04516"
"00261037"	"04516"
"00261038"	"04516"
"00261039"	"04516"
"00261040"	"04516"
"00261041"	"04516"
"00261042"	"04516"
"00261043"	"04516"
"00261044"	"04516"
"00261045"	"04516"
"00261046"	"04516"
"00261047"	"04516"
"00261048"	"04516"
"00261049"	"04516"
"00261050"	"04516"
"00261051"	"04516"
"00261052"	"04516"
"00261053"	"04516"
"00261054"	"04516"
"00261055"	"04516"
"00261056"	"04516"
"00261057"	"04516"
"00261058"	"04516"
"00261059"	"04516"
"00261060"	"04516"
"00261061"	"04516"
"00261062"	"04516"
"00261063"	"04516"
"00261064"	"04516"
"00261065"	"04516"
"00261066"	"04516"
"00261067"	"04516"
"00261068"	"04516"
"00261069"	"04516"
"00261070"	"04516"
"00261071"	"04516"
"00261072"	"04516"
"00261073"	"04516"
"00261074"	"04516"
"00261075"	"04516"
"00261076"	"04516"
"00261077"	"04516"
"00261078"	"04516"
"00261079"	"04516"
"00261080"	"04516"
"00261081"	"04516"
"00261082"	"04516"
"00261083"	"04516"
"00261084"	"04516"
"00261085"	"04516"
"00261086"	"04516"
"00261087"	"04516"
"00261088"	"04516"
"00261089"	"04516"
"00261090"	"04516"
"00261091"	"04516"
"00261092"	"04516"
"00261093"	"04516"
"00261094"	"04516"
"00261095"	"04516"
"00261096"	"04516"
"00261097"	"04516"
"00261098"	"04516"
"00261099"	"04516"
"00261100"	"04516"
"00261101"	"04516"
"00261102"	"04516"
"00261103"	"04516"
"00261104"	"04516"
"00261105"	"04516"
"00261106"	"04516"
"00261107"	"04516"
"00261108"	"04516"
"00261109"	"04516"
"00261110"	"04516"
"00261111"	"04516"
"00261112"	"04516"
"00261113"	"04516"
"00261114"	"04516"
"00261115"	"04516"
"00261116"	"04516"
"00261117"	"04516"
"00261118"	"04516"
"00261119"	"04516"
"00261120"	"04516"
"00261121"	"04516"
"00261122"	"04516"
"00261123"	"04516"
"00261124"	"04516"
"00261125"	"04516"
"00261126"	"04516"
"00261127"	"04516"
"00276107"	"05464"
"00276109"	"05464"
"00292065"	"00198"
"00292066"	"00198"
"00334361"	"05793"
"00335009"	"05793"
"00335016"	"05793"
"00335033"	"05793"
"00361998"	"04214"
"00433080"	"05292"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04214, 04516, 05292, 05464, 05793
## Count = 181
"{{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}}"
"0000199203"	"00000"	"00260658"	"00000"	"-"	""	"-"	""	""	""	""	""	""	""	""	""	""	""
"0000199362"	"04516"	"00260830"	"03027"	"Familial, autosomal recessive"	""	"IMD30, IL-12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199483"	"04516"	"00260950"	"03027"	"Familial, autosomal recessive"	""	"IMD30, IL-12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199484"	"04516"	"00260951"	"03027"	"Familial, autosomal recessive"	""	"IMD30, IL-12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199485"	"04516"	"00260952"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199486"	"04516"	"00260953"	"00000"	"Familial, autosomal recessive"	""	"Disseminated BCG, Candida infection"	""	""	""	""	""	""	""	""	""	""	""
"0000199487"	"04516"	"00260954"	"00000"	"Familial, autosomal recessive"	""	"localized BCG infection"	""	""	""	""	""	""	""	""	""	""	""
"0000199488"	"04516"	"00260955"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199489"	"04516"	"00260956"	"00000"	"Familial, autosomal recessive"	""	"M.bovis BCG infection"	""	""	""	""	""	""	""	""	""	""	""
"0000199490"	"04516"	"00260957"	"00000"	"Familial, autosomal recessive"	""	"salmonella infection"	""	""	""	""	""	""	""	""	""	""	""
"0000199491"	"04516"	"00260958"	"00000"	"Familial, autosomal recessive"	""	"BCG infection"	""	""	""	""	""	""	""	""	""	""	""
"0000199492"	"04516"	"00260959"	"00000"	"Familial, autosomal recessive"	""	"IMD30, IL12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199493"	"04516"	"00260960"	"00000"	"Familial, autosomal recessive"	""	"IMD30, IL12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199494"	"04516"	"00260961"	"00000"	"Familial, autosomal recessive"	""	"IMD30, IL12RB1, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199495"	"04516"	"00260962"	"00000"	"Familial, autosomal recessive"	""	"IMD30, IL12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199496"	"04516"	"00260963"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199497"	"04516"	"00260964"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199498"	"04516"	"00260965"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199499"	"04516"	"00260966"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199500"	"04516"	"00260967"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199501"	"04516"	"00260968"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199502"	"04516"	"00260969"	"01723"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199503"	"04516"	"00260970"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199504"	"04516"	"00260971"	"00000"	"Familial, autosomal recessive"	""	"BCG infection and CMC"	""	""	""	""	""	""	""	""	""	""	""
"0000199505"	"04516"	"00260972"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199506"	"04516"	"00260973"	"00000"	"Familial, autosomal recessive"	""	"BCG infection and Salmonella"	""	""	""	""	""	""	""	""	""	""	""
"0000199507"	"04516"	"00260975"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199508"	"04516"	"00260976"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199509"	"04516"	"00260977"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199510"	"04516"	"00260978"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199511"	"04516"	"00260979"	"00000"	"Familial, autosomal recessive"	""	"BCGosis"	""	""	""	""	""	""	""	""	""	""	""
"0000199512"	"04516"	"00260980"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199513"	"04516"	"00260981"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199514"	"04516"	"00260982"	"01723"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199515"	"04516"	"00260983"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199516"	"04516"	"00260984"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199517"	"04516"	"00260985"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199518"	"04516"	"00260986"	"00000"	"Familial, autosomal recessive"	""	"Tuberculosis"	""	""	""	""	""	""	""	""	""	""	""
"0000199519"	"04516"	"00260987"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199520"	"04516"	"00260988"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199521"	"04516"	"00260989"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199522"	"04516"	"00260990"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199523"	"04516"	"00260991"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199524"	"04516"	"00260992"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199525"	"04516"	"00260993"	"01723"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199526"	"04516"	"00260994"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199527"	"04516"	"00260995"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199528"	"04516"	"00260996"	"01723"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199529"	"04516"	"00260997"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199530"	"04516"	"00260998"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199531"	"04516"	"00260999"	"00000"	"Familial, autosomal recessive"	""	"M.bovis BCG infection"	""	""	""	""	""	""	""	""	""	""	""
"0000199532"	"04516"	"00261000"	"00000"	"Familial, autosomal recessive"	""	"IMD30, IL12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199533"	"04516"	"00261001"	"00000"	"Familial, autosomal recessive"	""	"IMD30, IL12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199534"	"04516"	"00261002"	"00000"	"Familial, autosomal recessive"	""	"IMD30, IL12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199535"	"04516"	"00261003"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199536"	"04516"	"00261004"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199537"	"04516"	"00261005"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199538"	"04516"	"00261006"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199539"	"04516"	"00261007"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199540"	"04516"	"00261008"	"00000"	"Familial, autosomal recessive"	""	"disseminated BCG"	""	""	""	""	""	""	""	""	""	""	""
"0000199541"	"04516"	"00261009"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199542"	"04516"	"00261010"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199543"	"04516"	"00261011"	"00000"	"Familial, autosomal recessive"	""	"Salmonellosis"	""	""	""	""	""	""	""	""	""	""	""
"0000199544"	"04516"	"00261012"	"00000"	"Familial, autosomal recessive"	""	"BCGitis and CMC"	""	""	""	""	""	""	""	""	""	""	""
"0000199545"	"04516"	"00261013"	"01723"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199546"	"04516"	"00261014"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199547"	"04516"	"00261015"	"00000"	"Familial, autosomal recessive"	""	"BCG infection"	""	""	""	""	""	""	""	""	""	""	""
"0000199548"	"04516"	"00261016"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199549"	"04516"	"00261017"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199550"	"04516"	"00261018"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199551"	"04516"	"00261019"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199552"	"04516"	"00261020"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199553"	"04516"	"00261021"	"01723"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199554"	"04516"	"00261022"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199555"	"04516"	"00261023"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199556"	"04516"	"00261024"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199557"	"04516"	"00261025"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199558"	"04516"	"00261026"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199559"	"04516"	"00261027"	"00000"	"Familial, autosomal recessive"	""	"Salmonellosis + CMC (+ probably mycobacterial lymphadenitis)"	""	""	""	""	""	""	""	""	""	""	""
"0000199560"	"04516"	"00261028"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199561"	"04516"	"00261029"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199562"	"04516"	"00261030"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199563"	"04516"	"00261031"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199564"	"04516"	"00261032"	"00000"	"Familial, autosomal recessive"	""	"M.genavense infection"	""	""	""	""	""	""	""	""	""	""	""
"0000199565"	"04516"	"00261033"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199566"	"04516"	"00261034"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199567"	"04516"	"00261035"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199568"	"04516"	"00261036"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199569"	"04516"	"00261037"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199570"	"04516"	"00261038"	"01723"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199571"	"04516"	"00261039"	"01723"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199572"	"04516"	"00261040"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199573"	"04516"	"00261041"	"01723"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199574"	"04516"	"00261042"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199575"	"04516"	"00261043"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199576"	"04516"	"00261044"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199577"	"04516"	"00261045"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199578"	"04516"	"00261046"	"00000"	"Familial, autosomal recessive"	""	"Cutaneous Leukocytoclastic Vasculitis due to\r\nSalmonella enteritidis"	""	""	""	""	""	""	""	""	""	""	""
"0000199579"	"04516"	"00261047"	"00000"	"Familial, autosomal recessive"	""	"BCG and salmonellosis, recurrent vasculitis"	""	""	""	""	""	""	""	""	""	""	""
"0000199580"	"04516"	"00261048"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199581"	"04516"	"00261049"	"00000"	"Familial, autosomal recessive"	""	"M.bovis BCG infection (check)"	""	""	""	""	""	""	""	""	""	""	""
"0000199582"	"04516"	"00261050"	"00000"	"Familial, autosomal recessive"	""	"IMD30, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199583"	"04516"	"00261051"	"00000"	"Familial, autosomal recessive"	""	"IMD30, IL12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199584"	"04516"	"00261052"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199585"	"04516"	"00261053"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199586"	"04516"	"00261054"	"00000"	"Familial, autosomal recessive"	""	"also disseminated histoplasmosis"	""	""	""	""	""	""	""	""	""	""	""
"0000199587"	"04516"	"00261055"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199588"	"04516"	"00261056"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199589"	"04516"	"00261057"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199590"	"04516"	"00261058"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199591"	"04516"	"00261059"	"00000"	"Familial, autosomal recessive"	""	"BCGosis + hypogammablobulinemia + chronic diarrhea"	""	""	""	""	""	""	""	""	""	""	""
"0000199592"	"04516"	"00261060"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199593"	"04516"	"00261061"	"00000"	"Familial, autosomal recessive"	""	"Tuberculosis"	""	""	""	""	""	""	""	""	""	""	""
"0000199594"	"04516"	"00261062"	"00000"	"Familial, autosomal recessive"	""	""	"3m"	""	""	""	""	""	""	""	""	""	""
"0000199595"	"04516"	"00261063"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199596"	"04516"	"00261064"	"03004"	"Familial, autosomal recessive"	""	"Fetid diarrhoea, bloating, fever mostly in the evenings and weight loss. Gastrointestinal endoscopy performed reveal chronic granulomatous colitis with abundant acid-fast bacilli M. genavense.\r\nSalmonella enteritidis sepsis confirmed by blood and stool cultures"	"5y"	"5y"	"5y"	""	""	""	""	""	""	""	""
"0000199597"	"04516"	"00261065"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199598"	"04516"	"00261066"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199599"	"04516"	"00261067"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199600"	"04516"	"00261069"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199601"	"04516"	"00261070"	"01723"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199602"	"04516"	"00261071"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199603"	"04516"	"00261072"	"00000"	"Familial, autosomal recessive"	""	"IMD30, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199604"	"04516"	"00261073"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199605"	"04516"	"00261074"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199606"	"04516"	"00261076"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199607"	"04516"	"00261077"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199608"	"04516"	"00261078"	"00000"	"Familial, autosomal recessive"	""	"BCGosis"	""	""	""	""	""	""	""	""	""	""	""
"0000199609"	"04516"	"00261079"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199610"	"04516"	"00261081"	"00000"	"-"	""	"MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199611"	"04516"	"00261082"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199612"	"04516"	"00261083"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199613"	"04516"	"00261084"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199614"	"04516"	"00261085"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199615"	"04516"	"00261086"	"00000"	"Familial, autosomal recessive"	""	"BCG infection and CMC"	""	""	""	""	""	""	""	""	""	""	""
"0000199616"	"04516"	"00261087"	"00000"	"Familial, autosomal recessive"	""	"BCG infection"	""	""	""	""	""	""	""	""	""	""	""
"0000199617"	"04516"	"00261088"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199618"	"04516"	"00261089"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199619"	"04516"	"00261091"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199620"	"04516"	"00261092"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199621"	"04516"	"00261093"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199622"	"04516"	"00261094"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199623"	"04516"	"00261096"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199624"	"04516"	"00261097"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199625"	"04516"	"00261098"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199626"	"04516"	"00261099"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199627"	"04516"	"00261100"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199628"	"04516"	"00261101"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199629"	"04516"	"00261102"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199630"	"04516"	"00261103"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199631"	"04516"	"00261104"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199632"	"04516"	"00261105"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199633"	"04516"	"00261106"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199634"	"04516"	"00261107"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199635"	"04516"	"00261108"	"00000"	"Familial, autosomal recessive"	""	"Salmonellosis"	""	""	""	""	""	""	""	""	""	""	""
"0000199636"	"04516"	"00261109"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199637"	"04516"	"00261110"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199638"	"04516"	"00261111"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199639"	"04516"	"00261112"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199640"	"04516"	"00261113"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199641"	"04516"	"00261114"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199642"	"04516"	"00261116"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199643"	"04516"	"00261117"	"00000"	"Familial, autosomal recessive"	""	"index patient: Klebsiella and Nocardia. sister of index patient also homozygous for same mutation but only localized BCG-itis with spontaneous improvement."	""	""	""	""	""	""	""	""	""	""	""
"0000199644"	"04516"	"00261118"	"00000"	"Familial, autosomal recessive"	""	"Candidiasis"	""	""	""	""	""	""	""	""	""	""	""
"0000199645"	"04516"	"00261119"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199646"	"04516"	"00261120"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199647"	"04516"	"00261121"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199648"	"04516"	"00261122"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199649"	"04516"	"00261123"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199650"	"04516"	"00261124"	"00000"	"Familial, autosomal recessive"	""	"BCG infection"	""	""	""	""	""	""	""	""	""	""	""
"0000199651"	"04516"	"00261125"	"00000"	"Familial, autosomal recessive"	""	"MSMD"	"9m"	""	""	""	""	""	""	""	""	""	""
"0000199652"	"04516"	"00261126"	"00000"	"Familial, autosomal recessive"	""	"IMD30, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000199653"	"04516"	"00261127"	"00000"	"Familial, autosomal recessive"	""	"IMD30, IL12RB1 deficiency, MSMD"	""	""	""	""	""	""	""	""	""	""	""
"0000210697"	"05464"	"00276107"	"03308"	"Unknown"	""	"Colorectal cancer (CRC) (67y)\r\nFirst degree relatives\' phenotype: CRC (63); CRC (63); CRC (62)"	""	"67y"	"CRC"	""	"MSS"	""	""	""	""	""	""
"0000210698"	"05464"	"00276109"	"03308"	"Unknown"	""	"Colorectal cancer (58y)\r\nFirst degree relative phenotype: colorectal cancer (68y)"	""	"58y"	""	""	"MSS"	""	""	""	""	""	""
"0000253156"	"05793"	"00334361"	"04011"	"Unknown"	""	"hospitalized after COVID-19 infection,"	""	""	""	""	""	""	""	""	""	"COVID-19"	""
"0000253291"	"05793"	"00335009"	"04011"	"Unknown"	""	"hospitalized after COVID-19 infection,"	""	""	""	""	""	""	""	""	""	"COVID-19"	""
"0000253298"	"05793"	"00335016"	"04011"	"Unknown"	""	"hospitalized after COVID-19 infection,"	""	""	""	""	""	""	""	""	""	"COVID-19"	""
"0000253315"	"05793"	"00335033"	"04011"	"Unknown"	""	"hospitalized after COVID-19 infection,"	""	""	""	""	""	""	""	""	""	"COVID-19"	""
"0000257391"	"04214"	"00361998"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"age-related macular degeneration, cuticular drusen"	""
"0000323606"	"05292"	"00433080"	"00006"	"Familial, autosomal recessive"	"6y"	"defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency"	""	""	""	""	""	""	""	""	""	"primary immunodeficiency disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 190
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000261763"	"00260658"	"1"	"00000"	"01723"	"2012-09-27 12:10:47"	"00008"	"2019-08-08 16:02:57"	"SEQ"	"DNA"	""	""
"0000261935"	"00260830"	"1"	"03027"	"03027"	"2014-07-01 16:28:08"	"01723"	"2017-08-01 16:23:15"	"SEQ"	"DNA"	""	""
"0000262055"	"00260950"	"1"	"03027"	"03027"	"2014-07-01 16:13:57"	"01723"	"2017-08-01 16:23:15"	"SEQ"	"DNA"	""	""
"0000262056"	"00260951"	"1"	"03027"	"03027"	"2014-07-01 16:19:49"	"01723"	"2017-08-01 16:23:15"	"SEQ"	"DNA"	""	""
"0000262057"	"00260952"	"1"	"00000"	"01723"	"2012-03-28 13:16:04"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"DNA"	""	""
"0000262058"	"00260953"	"1"	"00000"	"01723"	"2012-05-24 16:51:21"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262059"	"00260954"	"1"	"00000"	"01723"	"2012-05-24 17:22:27"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262060"	"00260955"	"1"	"00000"	"01723"	"2012-05-24 17:34:30"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262061"	"00260956"	"1"	"00000"	"01723"	"2013-01-10 12:05:14"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262062"	"00260957"	"1"	"00000"	"01723"	"2013-01-10 12:08:56"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262063"	"00260958"	"1"	"00000"	"01723"	"2013-02-21 15:33:27"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262064"	"00260959"	"1"	"00000"	"01723"	"2017-07-31 16:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000262065"	"00260960"	"1"	"00000"	"01723"	"2017-07-31 16:27:38"	""	""	"SEQ"	"DNA"	""	""
"0000262066"	"00260961"	"1"	"00000"	"01723"	"2017-07-31 16:29:34"	""	""	"SEQ"	"DNA"	""	""
"0000262067"	"00260962"	"1"	"00000"	"01723"	"2017-07-31 16:31:47"	""	""	"SEQ"	"DNA"	""	""
"0000262068"	"00260963"	"1"	"00000"	"01723"	"2012-01-10 13:29:07"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262069"	"00260964"	"1"	"00000"	"01723"	"2012-03-28 09:08:09"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"DNA"	""	""
"0000262070"	"00260965"	"1"	"00000"	"01723"	"2012-03-26 14:08:09"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262071"	"00260966"	"1"	"00000"	"01723"	"2012-03-26 14:30:13"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262072"	"00260967"	"1"	"00000"	"01723"	"2012-03-26 14:35:18"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262073"	"00260968"	"1"	"00000"	"01723"	"2012-05-24 17:25:01"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262074"	"00260969"	"1"	"01723"	"01723"	"2012-08-13 13:11:34"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"RNA"	""	""
"0000262075"	"00260970"	"1"	"00000"	"01723"	"2012-08-13 13:51:53"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262076"	"00260971"	"1"	"00000"	"01723"	"2013-02-21 15:08:26"	"01723"	"2017-08-01 10:58:14"	"SEQ"	"DNA"	""	""
"0000262077"	"00260972"	"1"	"00000"	"01723"	"2012-11-27 13:03:12"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262078"	"00260973"	"1"	"00000"	"01723"	"2013-02-21 15:16:32"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262079"	"00260974"	"1"	"00000"	"01723"	"2012-03-27 10:46:42"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262080"	"00260975"	"1"	"00000"	"01723"	"2012-05-24 13:42:02"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262081"	"00260976"	"1"	"00000"	"01723"	"2012-05-24 14:32:05"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262082"	"00260977"	"1"	"00000"	"01723"	"2012-05-24 14:40:01"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262083"	"00260978"	"1"	"00000"	"01723"	"2012-05-24 16:33:20"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262084"	"00260979"	"1"	"00000"	"01723"	"2013-02-21 14:32:31"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262085"	"00260980"	"1"	"00000"	"01723"	"2013-11-14 10:04:33"	"01723"	"2017-05-03 15:12:02"	"SEQ"	"DNA"	""	""
"0000262086"	"00260981"	"1"	"00000"	"01723"	"2012-03-28 11:30:14"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"DNA"	""	""
"0000262087"	"00260982"	"1"	"01723"	"01723"	"2012-03-27 11:20:33"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262088"	"00260983"	"1"	"00000"	"01723"	"2012-03-27 10:36:41"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262089"	"00260984"	"1"	"00000"	"01723"	"2012-03-27 10:43:10"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262090"	"00260985"	"1"	"00000"	"01723"	"2018-06-05 22:44:06"	"01723"	"2018-06-05 22:52:41"	"SEQ"	"DNA"	""	""
"0000262091"	"00260986"	"1"	"00000"	"01723"	"2012-03-28 14:03:50"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262092"	"00260987"	"1"	"00000"	"01723"	"2012-05-24 14:28:22"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262093"	"00260988"	"1"	"00000"	"01723"	"2012-05-24 15:09:11"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262094"	"00260989"	"1"	"00000"	"01723"	"2012-08-13 14:06:34"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262095"	"00260990"	"1"	"00000"	"01723"	"2018-06-05 22:59:38"	""	""	"SEQ"	"DNA"	""	""
"0000262096"	"00260991"	"1"	"00000"	"01723"	"2011-12-27 15:30:57"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262097"	"00260992"	"1"	"00000"	"01723"	"2012-03-26 09:49:22"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262098"	"00260993"	"1"	"01723"	"01723"	"2012-03-27 11:54:19"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262099"	"00260994"	"1"	"00000"	"01723"	"2012-03-27 13:30:04"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262100"	"00260995"	"1"	"00000"	"01723"	"2012-03-27 14:00:24"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262101"	"00260996"	"1"	"01723"	"01723"	"2012-03-28 11:45:05"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262102"	"00260997"	"1"	"00000"	"01723"	"2012-03-27 12:14:44"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262103"	"00260998"	"1"	"00000"	"01723"	"2012-05-24 16:17:25"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262104"	"00260999"	"1"	"00000"	"01723"	"2013-01-10 12:14:43"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262105"	"00261000"	"1"	"00000"	"01723"	"2017-07-31 16:19:05"	""	""	"SEQ"	"DNA"	""	""
"0000262106"	"00261001"	"1"	"00000"	"01723"	"2017-07-31 16:22:12"	""	""	"SEQ"	"DNA"	""	""
"0000262107"	"00261002"	"1"	"00000"	"01723"	"2017-07-31 16:34:16"	""	""	"SEQ"	"DNA"	""	""
"0000262108"	"00261003"	"1"	"00000"	"01723"	"2012-03-26 15:29:14"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262109"	"00261004"	"1"	"00000"	"00000"	"2012-01-10 13:18:09"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262110"	"00261005"	"1"	"00000"	"01723"	"2012-03-26 13:30:33"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262111"	"00261006"	"1"	"00000"	"01723"	"2012-03-26 13:35:22"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262112"	"00261007"	"1"	"00000"	"01723"	"2012-03-28 08:48:30"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262113"	"00261008"	"1"	"00000"	"01723"	"2012-05-24 12:52:11"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262114"	"00261009"	"1"	"00000"	"01723"	"2012-05-24 16:36:30"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262115"	"00261010"	"1"	"00000"	"01723"	"2012-03-28 12:08:03"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262116"	"00261011"	"1"	"00000"	"01723"	"2013-01-17 09:31:13"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"RNA"	""	""
"0000262117"	"00261012"	"1"	"00000"	"01723"	"2013-02-14 10:24:05"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262118"	"00261013"	"1"	"01723"	"01723"	"2011-12-27 14:37:39"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"RNA"	""	""
"0000262119"	"00261014"	"1"	"00000"	"01723"	"2012-03-26 09:54:17"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262120"	"00261015"	"1"	"00000"	"01723"	"2013-02-21 15:26:09"	"01723"	"2017-08-01 10:51:57"	"SEQ"	"DNA"	""	""
"0000262121"	"00261016"	"1"	"00000"	"01723"	"2012-05-24 14:20:30"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262122"	"00261017"	"1"	"00000"	"01723"	"2013-01-10 15:45:27"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"RNA"	""	""
"0000262123"	"00261018"	"1"	"00000"	"01723"	"2012-03-27 14:05:45"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262124"	"00261019"	"1"	"00000"	"01723"	"2012-03-27 14:08:28"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262125"	"00261020"	"1"	"00000"	"01723"	"2012-05-24 16:01:34"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262126"	"00261021"	"1"	"01723"	"01723"	"2012-05-29 16:39:44"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"RNA"	""	""
"0000262127"	"00261022"	"1"	"00000"	"01723"	"2013-07-09 11:46:18"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"RNA"	""	""
"0000262128"	"00261023"	"1"	"00000"	"01723"	"2012-05-25 11:01:37"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"RNA"	""	""
"0000262129"	"00261024"	"1"	"00000"	"01723"	"2013-03-11 12:09:16"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262130"	"00261025"	"1"	"00000"	"01723"	"2012-03-27 12:09:08"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262131"	"00261026"	"1"	"00000"	"01723"	"2012-05-24 13:50:11"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262132"	"00261027"	"1"	"00000"	"01723"	"2013-02-14 10:44:22"	"01723"	"2017-07-31 15:13:15"	"SEQ"	"DNA"	""	""
"0000262133"	"00261028"	"1"	"00000"	"01723"	"2012-03-28 08:58:00"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262134"	"00261029"	"1"	"00000"	"01723"	"2012-05-24 17:48:31"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262135"	"00261030"	"1"	"00000"	"01723"	"2011-12-27 15:07:24"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262136"	"00261031"	"1"	"00000"	"01723"	"2011-12-27 15:42:33"	"01723"	"2017-05-03 15:11:15"	"RT-PCR"	"RNA"	""	""
"0000262137"	"00261032"	"1"	"00000"	"01723"	"2013-02-13 16:00:58"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262138"	"00261033"	"1"	"00000"	"01723"	"2012-12-20 09:26:35"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"RNA"	""	""
"0000262139"	"00261034"	"1"	"00000"	"01723"	"2012-03-27 13:46:23"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262140"	"00261035"	"1"	"00000"	"01723"	"2012-05-24 14:13:59"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262141"	"00261036"	"1"	"00000"	"01723"	"2012-05-25 10:14:25"	"01723"	"2017-07-31 17:18:58"	"RT-PCR"	"RNA"	""	""
"0000262142"	"00261037"	"1"	"00000"	"01723"	"2012-03-27 12:02:14"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262143"	"00261038"	"1"	"01723"	"01723"	"2012-01-10 17:12:27"	"01723"	"2017-05-03 15:11:15"	"RT-PCR"	"RNA"	""	""
"0000262144"	"00261039"	"1"	"01723"	"01723"	"2012-01-30 16:50:56"	"01723"	"2017-05-03 15:11:15"	"RT-PCR"	"RNA"	""	""
"0000262145"	"00261040"	"1"	"00000"	"01723"	"2012-03-26 09:07:18"	"01723"	"2017-05-03 15:11:15"	"SSCA"	"DNA"	""	""
"0000262146"	"00261041"	"1"	"01723"	"01723"	"2012-03-27 11:50:26"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262147"	"00261042"	"1"	"00000"	"01723"	"2012-03-27 12:05:31"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262148"	"00261043"	"1"	"00000"	"01723"	"2012-05-24 14:37:53"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262149"	"00261044"	"1"	"00000"	"01723"	"2012-05-24 16:30:47"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262150"	"00261045"	"1"	"00000"	"01723"	"2012-08-13 14:47:42"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262151"	"00261046"	"1"	"00000"	"01723"	"2012-10-31 14:04:11"	"01723"	"2017-05-03 15:11:16"	"RT-PCR"	"RNA"	""	""
"0000262152"	"00261047"	"1"	"00000"	"01723"	"2012-11-14 10:20:47"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262153"	"00261048"	"1"	"00000"	"01723"	"2012-11-21 11:52:56"	"01723"	"2017-05-03 15:11:16"	"RT-PCR"	"RNA"	""	""
"0000262154"	"00261049"	"1"	"00000"	"01723"	"2013-01-10 13:41:55"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262155"	"00261050"	"1"	"00000"	"01723"	"2017-07-27 17:12:18"	""	""	"SEQ"	"DNA"	""	""
"0000262156"	"00261051"	"1"	"00000"	"01723"	"2017-07-31 16:37:05"	""	""	"SEQ"	"DNA"	""	""
"0000262157"	"00261052"	"1"	"00000"	"01723"	"2012-08-13 14:31:12"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262158"	"00261053"	"1"	"00000"	"01723"	"2012-03-28 13:08:19"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262159"	"00261054"	"1"	"00000"	"01723"	"2012-11-27 12:42:44"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262160"	"00261055"	"1"	"00000"	"01723"	"2018-06-05 22:56:47"	""	""	"SEQ"	"DNA"	""	""
"0000262161"	"00261056"	"1"	"00000"	"01723"	"2012-03-28 09:16:54"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262162"	"00261057"	"1"	"00000"	"01723"	"2012-03-28 12:18:16"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262163"	"00261058"	"1"	"00000"	"01723"	"2012-12-20 09:37:46"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"RNA"	""	""
"0000262164"	"00261059"	"1"	"00000"	"01723"	"2012-11-14 10:13:38"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262165"	"00261060"	"1"	"00000"	"01723"	"2011-12-27 14:46:51"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262166"	"00261061"	"1"	"00000"	"01723"	"2012-03-28 13:53:26"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262167"	"00261062"	"1"	"00000"	"01723"	"2015-01-14 15:39:37"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262168"	"00261063"	"1"	"00000"	"01723"	"2012-03-26 13:47:19"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262169"	"00261064"	"1"	"03004"	"03004"	"2013-01-14 10:07:50"	"01723"	"2017-05-03 15:15:30"	"SEQ"	"DNA"	""	""
"0000262170"	"00261065"	"1"	"00000"	"01723"	"2012-03-27 10:58:55"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262171"	"00261066"	"1"	"00000"	"01723"	"2012-03-28 12:27:25"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"DNA"	""	""
"0000262172"	"00261067"	"1"	"00000"	"01723"	"2012-05-24 17:15:13"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262173"	"00261068"	"1"	"00000"	"01723"	"2012-03-23 15:06:05"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262174"	"00261069"	"1"	"00000"	"01723"	"2012-05-24 13:12:20"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262175"	"00261070"	"1"	"01723"	"01723"	"2011-12-27 14:28:32"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"RNA"	""	""
"0000262176"	"00261071"	"1"	"00000"	"01723"	"2012-03-26 14:11:57"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262177"	"00261072"	"1"	"00000"	"01723"	"2017-07-27 16:51:58"	""	""	"SEQ"	"DNA"	""	""
"0000262178"	"00261073"	"1"	"00000"	"01723"	"2012-05-24 15:36:22"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262179"	"00261074"	"1"	"00000"	"01723"	"2012-03-26 11:12:25"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262180"	"00261075"	"1"	"00000"	"01723"	"2013-11-13 15:10:48"	"01723"	"2017-05-03 15:17:07"	"?"	"?"	""	""
"0000262181"	"00261076"	"1"	"00000"	"01723"	"2012-03-28 14:27:25"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262182"	"00261077"	"1"	"00000"	"01723"	"2012-05-24 14:03:41"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262183"	"00261078"	"1"	"00000"	"01723"	"2013-02-13 17:38:35"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262184"	"00261079"	"1"	"00000"	"01723"	"2012-05-24 17:37:34"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262185"	"00261080"	"1"	"00000"	"01723"	"2013-11-13 14:58:24"	"01723"	"2017-05-03 15:21:18"	"?"	"?"	""	""
"0000262186"	"00261081"	"1"	"00000"	"01723"	"2016-01-19 17:06:47"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262187"	"00261082"	"1"	"00000"	"01723"	"2012-05-24 16:54:14"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262188"	"00261083"	"1"	"00000"	"01723"	"2012-05-24 16:14:07"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262189"	"00261084"	"1"	"00000"	"01723"	"2012-03-28 10:02:02"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262190"	"00261085"	"1"	"00000"	"01723"	"2012-03-28 11:51:20"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262191"	"00261086"	"1"	"00000"	"01723"	"2013-02-13 15:13:46"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262192"	"00261087"	"1"	"00000"	"01723"	"2013-02-13 17:09:43"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262193"	"00261088"	"1"	"00000"	"01723"	"2014-05-20 11:26:40"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262194"	"00261089"	"1"	"00000"	"01723"	"2012-03-26 14:25:11"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262195"	"00261090"	"1"	"01723"	"01723"	"2012-08-10 11:19:34"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"RNA"	""	""
"0000262196"	"00261091"	"1"	"00000"	"01723"	"2012-05-24 15:44:54"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262197"	"00261092"	"1"	"00000"	"01723"	"2012-08-13 14:40:45"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262198"	"00261093"	"1"	"00000"	"01723"	"2012-05-24 17:32:29"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262199"	"00261094"	"1"	"00000"	"01723"	"2012-03-26 08:57:15"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262200"	"00261095"	"1"	"00000"	"01723"	"2012-03-26 14:43:29"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262201"	"00261096"	"1"	"00000"	"01723"	"2012-03-26 15:14:19"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262202"	"00261097"	"1"	"00000"	"01723"	"2012-03-27 13:38:55"	"01723"	"2017-08-01 16:25:31"	"?"	"?"	""	""
"0000262203"	"00261098"	"1"	"00000"	"01723"	"2012-03-28 09:30:57"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"DNA"	""	""
"0000262204"	"00261099"	"1"	"00000"	"01723"	"2012-03-28 09:36:17"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"DNA"	""	""
"0000262205"	"00261100"	"1"	"00000"	"01723"	"2012-03-28 09:38:28"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"DNA"	""	""
"0000262206"	"00261101"	"1"	"00000"	"01723"	"2012-03-28 09:44:31"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"DNA"	""	""
"0000262207"	"00261102"	"1"	"00000"	"01723"	"2012-03-28 09:55:34"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"DNA"	""	""
"0000262208"	"00261103"	"1"	"00000"	"01723"	"2012-03-28 11:39:52"	"01723"	"2017-08-01 16:25:31"	"SEQ"	"DNA"	""	""
"0000262209"	"00261104"	"1"	"00000"	"01723"	"2012-05-24 16:09:09"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262210"	"00261105"	"1"	"00000"	"01723"	"2012-05-24 17:44:06"	"01723"	"2017-05-03 15:11:16"	"?"	"protein;?"	""	""
"0000262211"	"00261106"	"1"	"00000"	"01723"	"2017-05-03 13:21:51"	"01723"	"2017-05-03 13:23:23"	"SSCA"	"DNA"	""	""
"0000262212"	"00261107"	"1"	"00000"	"01723"	"2012-05-24 17:03:05"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262213"	"00261108"	"1"	"00000"	"01723"	"2013-02-14 10:37:37"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262214"	"00261109"	"1"	"00000"	"01723"	"2012-05-24 16:25:03"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262215"	"00261110"	"1"	"00000"	"01723"	"2012-03-23 14:29:46"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"DNA"	""	""
"0000262216"	"00261111"	"1"	"00000"	"01723"	"2012-03-23 14:51:12"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"DNA"	""	""
"0000262217"	"00261112"	"1"	"00000"	"01723"	"2012-03-26 13:40:22"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262218"	"00261113"	"1"	"00000"	"01723"	"2012-03-26 13:53:27"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262219"	"00261114"	"1"	"00000"	"01723"	"2012-03-26 15:20:58"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262220"	"00261115"	"1"	"00000"	"01723"	"2012-03-26 15:23:33"	"01723"	"2017-08-01 16:25:31"	"SSCA"	"DNA"	""	""
"0000262221"	"00261116"	"1"	"00000"	"01723"	"2012-03-28 09:23:44"	"01723"	"2017-08-01 16:25:31"	"RT-PCR"	"DNA"	""	""
"0000262222"	"00261117"	"1"	"00000"	"01723"	"2012-03-28 12:00:05"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262223"	"00261118"	"1"	"00000"	"01723"	"2012-05-24 13:00:15"	"01723"	"2017-05-03 15:19:54"	"?"	"?"	""	""
"0000262224"	"00261119"	"1"	"00000"	"01723"	"2012-05-24 13:03:37"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262225"	"00261120"	"1"	"00000"	"01723"	"2012-05-24 14:16:30"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262226"	"00261121"	"1"	"00000"	"01723"	"2012-05-24 17:20:49"	"01723"	"2017-05-03 15:11:16"	"?"	"?"	""	""
"0000262227"	"00261122"	"1"	"00000"	"01723"	"2012-08-10 11:31:56"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262228"	"00261123"	"1"	"00000"	"01723"	"2012-08-10 11:34:21"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262229"	"00261124"	"1"	"00000"	"01723"	"2013-02-13 15:37:01"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262230"	"00261125"	"1"	"00000"	"01723"	"2016-01-19 16:39:51"	"01723"	"2017-05-03 15:11:16"	"SEQ"	"DNA"	""	""
"0000262231"	"00261126"	"1"	"00000"	"01723"	"2017-07-27 16:18:48"	"01723"	"2017-07-27 16:55:27"	"SEQ"	"DNA"	""	""
"0000262232"	"00261127"	"1"	"00000"	"01723"	"2017-07-31 16:57:11"	""	""	"SEQ"	"DNA"	""	""
"0000277252"	"00276107"	"1"	"03308"	"03308"	"2020-01-27 11:47:36"	""	""	"PCR"	"DNA"	"blood"	""
"0000277254"	"00276109"	"1"	"03308"	"03308"	"2020-01-27 11:51:40"	""	""	"PCR"	"DNA"	"blood"	""
"0000293233"	"00292065"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293234"	"00292066"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000335589"	"00334361"	"1"	"04011"	"04011"	"2021-02-28 05:19:20"	"00006"	"2021-03-05 11:31:40"	"SEQ-NG"	"DNA"	"PBMC"	"WES"
"0000336238"	"00335009"	"1"	"04011"	"04011"	"2021-03-03 01:47:54"	"00006"	"2021-03-05 11:31:40"	"SEQ-NG"	"DNA"	"PBMC"	"WES"
"0000336245"	"00335016"	"1"	"04011"	"04011"	"2021-03-03 02:53:30"	"00006"	"2021-03-05 11:31:40"	"SEQ-NG"	"DNA"	"PBMC"	"WES"
"0000336262"	"00335033"	"1"	"04011"	"04011"	"2021-03-03 04:54:50"	"00006"	"2021-03-05 11:31:40"	"SEQ-NG"	"DNA"	"PBMC"	"WES"
"0000363226"	"00361998"	"1"	"00000"	"00006"	"2021-04-13 14:21:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000434511"	"00433080"	"1"	"00006"	"00006"	"2023-02-28 15:41:53"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 183
"{{screeningid}}"	"{{geneid}}"
"0000261763"	"IFNGR1"
"0000261763"	"IL12RB1"
"0000261935"	"IFNGR2"
"0000262055"	"IL12RB1"
"0000262056"	"IL12RB1"
"0000262057"	"IL12RB1"
"0000262058"	"IL12RB1"
"0000262059"	"IL12RB1"
"0000262060"	"IL12RB1"
"0000262061"	"IL12RB1"
"0000262062"	"IL12RB1"
"0000262063"	"IL12RB1"
"0000262064"	"IL12RB1"
"0000262065"	"IL12RB1"
"0000262066"	"IL12RB1"
"0000262067"	"IL12RB1"
"0000262068"	"IL12RB1"
"0000262069"	"IL12RB1"
"0000262070"	"IL12RB1"
"0000262071"	"IL12RB1"
"0000262072"	"IL12RB1"
"0000262073"	"IL12RB1"
"0000262074"	"IL12RB1"
"0000262075"	"IL12RB1"
"0000262076"	"IL12RB1"
"0000262077"	"IL12RB1"
"0000262078"	"IL12RB1"
"0000262079"	"IL12RB1"
"0000262080"	"IL12RB1"
"0000262081"	"IL12RB1"
"0000262082"	"IL12RB1"
"0000262083"	"IL12RB1"
"0000262084"	"IL12RB1"
"0000262085"	"IL12RB1"
"0000262086"	"IL12RB1"
"0000262087"	"IL12RB1"
"0000262088"	"IL12RB1"
"0000262089"	"IL12RB1"
"0000262090"	"IL12RB1"
"0000262091"	"IL12RB1"
"0000262092"	"IL12RB1"
"0000262093"	"IL12RB1"
"0000262094"	"IL12RB1"
"0000262095"	"IL12RB1"
"0000262096"	"IL12RB1"
"0000262097"	"IL12RB1"
"0000262098"	"IL12RB1"
"0000262099"	"IL12RB1"
"0000262100"	"IL12RB1"
"0000262101"	"IL12RB1"
"0000262102"	"IL12RB1"
"0000262103"	"IL12RB1"
"0000262104"	"IL12RB1"
"0000262105"	"IL12RB1"
"0000262106"	"IL12RB1"
"0000262107"	"IL12RB1"
"0000262108"	"IL12RB1"
"0000262109"	"IL12RB1"
"0000262110"	"IL12RB1"
"0000262111"	"IL12RB1"
"0000262112"	"IL12RB1"
"0000262113"	"IL12RB1"
"0000262114"	"IL12RB1"
"0000262115"	"IL12RB1"
"0000262116"	"IL12RB1"
"0000262117"	"IL12RB1"
"0000262118"	"IL12RB1"
"0000262119"	"IL12RB1"
"0000262120"	"IL12RB1"
"0000262121"	"IL12RB1"
"0000262122"	"IL12RB1"
"0000262123"	"IL12RB1"
"0000262124"	"IL12RB1"
"0000262125"	"IL12RB1"
"0000262126"	"IL12RB1"
"0000262127"	"IL12RB1"
"0000262128"	"IL12RB1"
"0000262129"	"IL12RB1"
"0000262130"	"IL12RB1"
"0000262131"	"IL12RB1"
"0000262132"	"IL12RB1"
"0000262133"	"IL12RB1"
"0000262134"	"IL12RB1"
"0000262135"	"IL12RB1"
"0000262136"	"IL12RB1"
"0000262137"	"IL12RB1"
"0000262138"	"IL12RB1"
"0000262139"	"IL12RB1"
"0000262140"	"IL12RB1"
"0000262141"	"IL12RB1"
"0000262142"	"IL12RB1"
"0000262143"	"IL12RB1"
"0000262144"	"IL12RB1"
"0000262145"	"IL12RB1"
"0000262146"	"IL12RB1"
"0000262147"	"IL12RB1"
"0000262148"	"IL12RB1"
"0000262149"	"IL12RB1"
"0000262150"	"IL12RB1"
"0000262151"	"IL12RB1"
"0000262152"	"IL12RB1"
"0000262153"	"IL12RB1"
"0000262154"	"IL12RB1"
"0000262155"	"IL12RB1"
"0000262156"	"IL12RB1"
"0000262157"	"IL12RB1"
"0000262158"	"IL12RB1"
"0000262159"	"IL12RB1"
"0000262160"	"IL12RB1"
"0000262161"	"IL12RB1"
"0000262162"	"IL12RB1"
"0000262163"	"IL12RB1"
"0000262164"	"IL12RB1"
"0000262165"	"IL12RB1"
"0000262166"	"IL12RB1"
"0000262167"	"IL12RB1"
"0000262168"	"IL12RB1"
"0000262169"	"IL12RB1"
"0000262170"	"IL12RB1"
"0000262171"	"IL12RB1"
"0000262172"	"IL12RB1"
"0000262173"	"IL12RB1"
"0000262174"	"IL12RB1"
"0000262175"	"IL12RB1"
"0000262176"	"IL12RB1"
"0000262177"	"IL12RB1"
"0000262178"	"IL12RB1"
"0000262179"	"IL12RB1"
"0000262180"	"IL12RB1"
"0000262181"	"IL12RB1"
"0000262182"	"IL12RB1"
"0000262183"	"IL12RB1"
"0000262184"	"IL12RB1"
"0000262185"	"IL12RB1"
"0000262186"	"IL12RB1"
"0000262187"	"IL12RB1"
"0000262188"	"IL12RB1"
"0000262189"	"IL12RB1"
"0000262190"	"IL12RB1"
"0000262191"	"IL12RB1"
"0000262192"	"IL12RB1"
"0000262193"	"IL12RB1"
"0000262194"	"IL12RB1"
"0000262195"	"IL12RB1"
"0000262196"	"IL12RB1"
"0000262197"	"IL12RB1"
"0000262198"	"IL12RB1"
"0000262199"	"IL12RB1"
"0000262200"	"IL12RB1"
"0000262201"	"IL12RB1"
"0000262202"	"IL12RB1"
"0000262203"	"IL12RB1"
"0000262204"	"IL12RB1"
"0000262205"	"IL12RB1"
"0000262206"	"IL12RB1"
"0000262207"	"IL12RB1"
"0000262208"	"IL12RB1"
"0000262209"	"IL12RB1"
"0000262210"	"IL12RB1"
"0000262211"	"IL12RB1"
"0000262212"	"IL12RB1"
"0000262213"	"IL12RB1"
"0000262214"	"IL12RB1"
"0000262215"	"IL12RB1"
"0000262216"	"IL12RB1"
"0000262217"	"IL12RB1"
"0000262218"	"IL12RB1"
"0000262219"	"IL12RB1"
"0000262220"	"IL12RB1"
"0000262221"	"IL12RB1"
"0000262222"	"IL12RB1"
"0000262223"	"IL12RB1"
"0000262224"	"IL12RB1"
"0000262225"	"IL12RB1"
"0000262226"	"IL12RB1"
"0000262227"	"IL12RB1"
"0000262228"	"IL12RB1"
"0000262229"	"IL12RB1"
"0000262230"	"IL12RB1"
"0000262231"	"IL12RB1"
"0000262232"	"IL12RB1"
"0000277252"	"IL12RB1"
"0000277254"	"IL12RB1"


## 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 = 380
"{{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}}"
"0000255102"	"0"	"30"	"19"	"18170800"	"18170800"	"subst"	"1.70142E-5"	"01943"	"IL12RB1_000224"	"g.18170800A>G"	""	""	""	"IL12RB1(NM_005535.1):c.1887T>C (p.T629=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18059990A>G"	""	"likely benign"	""
"0000281510"	"0"	"10"	"19"	"18197635"	"18197635"	"subst"	"0.164016"	"02325"	"IL12RB1_000079"	"g.18197635G>A"	""	""	""	"IL12RB1(NM_005535.3):c.-2C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18086825G>A"	""	"benign"	""
"0000281511"	"0"	"10"	"19"	"18180413"	"18180413"	"subst"	"0.281972"	"02325"	"IL12RB1_000077"	"g.18180413C>G"	""	""	""	"IL12RB1(NM_005535.3):c.1132G>C (p.G378R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18069603C>G"	""	"benign"	""
"0000281512"	"0"	"10"	"19"	"18188408"	"18188408"	"subst"	"0.127387"	"02325"	"IL12RB1_000071"	"g.18188408C>T"	""	""	""	"IL12RB1(NM_005535.1):c.467G>A (p.R156H), IL12RB1(NM_005535.3):c.467G>A (p.R156H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18077598C>T"	""	"benign"	""
"0000281513"	"0"	"10"	"19"	"18186618"	"18186618"	"subst"	"0.27736"	"02325"	"IL12RB1_000072"	"g.18186618T>C"	""	""	""	"IL12RB1(NM_005535.1):c.641A>G (p.Q214R), IL12RB1(NM_005535.3):c.641A>G (p.Q214R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18075808T>C"	""	"benign"	""
"0000281514"	"0"	"10"	"19"	"18186575"	"18186575"	"subst"	"0.277442"	"02325"	"IL12RB1_000119"	"g.18186575G>A"	""	""	""	"IL12RB1(NM_005535.3):c.684C>T (p.P228=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18075765G>A"	""	"benign"	""
"0000285230"	"0"	"30"	"19"	"18177491"	"18177491"	"subst"	"0.000179225"	"02326"	"IL12RB1_000205"	"g.18177491T>G"	""	""	""	"IL12RB1(NM_001290024.1):c.1464A>C (p.T488=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18066681T>G"	""	"likely benign"	""
"0000285231"	"0"	"30"	"19"	"18172004"	"18172004"	"subst"	"0.00294602"	"02326"	"IL12RB1_000174"	"g.18172004G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.1839C>T (p.A613=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18061194G>A"	""	"likely benign"	""
"0000285232"	"0"	"30"	"19"	"18188408"	"18188408"	"subst"	"0.127387"	"02326"	"IL12RB1_000071"	"g.18188408C>T"	""	""	""	"IL12RB1(NM_005535.1):c.467G>A (p.R156H), IL12RB1(NM_005535.3):c.467G>A (p.R156H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18077598C>T"	""	"likely benign"	""
"0000285233"	"0"	"30"	"19"	"18186618"	"18186618"	"subst"	"0.27736"	"02326"	"IL12RB1_000072"	"g.18186618T>C"	""	""	""	"IL12RB1(NM_005535.1):c.641A>G (p.Q214R), IL12RB1(NM_005535.3):c.641A>G (p.Q214R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18075808T>C"	""	"likely benign"	""
"0000285234"	"0"	"30"	"19"	"18184317"	"18184317"	"subst"	"0.00643422"	"02326"	"IL12RB1_000209"	"g.18184317G>A"	""	""	""	"IL12RB1(NM_005535.1):c.783+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18073507G>A"	""	"likely benign"	""
"0000285235"	"0"	"10"	"19"	"18183095"	"18183095"	"subst"	"0.00621878"	"02326"	"IL12RB1_000135"	"g.18183095C>T"	""	""	""	"IL12RB1(NM_005535.1):c.848G>A (p.R283Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18072285C>T"	""	"benign"	""
"0000289567"	"0"	"50"	"19"	"18180413"	"18180413"	"subst"	"0"	"01943"	"IL12RB1_000207"	"g.18180413C>A"	""	""	""	"IL12RB1(NM_005535.1):c.1132G>T (p.G378W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18069603C>A"	""	"VUS"	""
"0000289568"	"0"	"30"	"19"	"18170874"	"18170874"	"subst"	"0.00182921"	"01943"	"IL12RB1_000177"	"g.18170874C>A"	""	""	""	"IL12RB1(NM_005535.1):c.1813G>T (p.V605L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18060064C>A"	""	"likely benign"	""
"0000289569"	"0"	"30"	"19"	"18172004"	"18172004"	"subst"	"0.00294602"	"01943"	"IL12RB1_000174"	"g.18172004G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.1839C>T (p.A613=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18061194G>A"	""	"likely benign"	""
"0000289570"	"0"	"50"	"19"	"18170808"	"18170808"	"subst"	"0.000841608"	"01943"	"IL12RB1_000179"	"g.18170808C>T"	""	""	""	"IL12RB1(NM_005535.1):c.1879G>A (p.E627K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18059998C>T"	""	"VUS"	""
"0000289571"	"0"	"30"	"19"	"18191778"	"18191778"	"subst"	"0.000195282"	"01943"	"IL12RB1_000101"	"g.18191778G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.393C>T (p.A131=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18080968G>A"	""	"likely benign"	""
"0000289572"	"0"	"10"	"19"	"18184317"	"18184317"	"subst"	"0.00643422"	"01943"	"IL12RB1_000209"	"g.18184317G>A"	""	""	""	"IL12RB1(NM_005535.1):c.783+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18073507G>A"	""	"benign"	""
"0000337393"	"0"	"90"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"02327"	"IL12RB1_000013"	"g.18171930A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000339575"	"0"	"10"	"19"	"18186575"	"18186575"	"subst"	"0.277442"	"02327"	"IL12RB1_000119"	"g.18186575G>A"	""	""	""	"IL12RB1(NM_005535.3):c.684C>T (p.P228=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18075765G>A"	""	"benign"	""
"0000341994"	"0"	"10"	"19"	"18188408"	"18188408"	"subst"	"0.127387"	"02327"	"IL12RB1_000071"	"g.18188408C>T"	""	""	""	"IL12RB1(NM_005535.1):c.467G>A (p.R156H), IL12RB1(NM_005535.3):c.467G>A (p.R156H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18077598C>T"	""	"benign"	""
"0000342425"	"0"	"90"	"19"	"18186625"	"18186625"	"subst"	"8.12473E-6"	"02327"	"IL12RB1_000217"	"g.18186625G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18075815G>A"	""	"pathogenic"	""
"0000344662"	"0"	"10"	"19"	"18186618"	"18186618"	"subst"	"0.27736"	"02327"	"IL12RB1_000072"	"g.18186618T>C"	""	""	""	"IL12RB1(NM_005535.1):c.641A>G (p.Q214R), IL12RB1(NM_005535.3):c.641A>G (p.Q214R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18075808T>C"	""	"benign"	""
"0000566605"	"0"	"10"	"19"	"18174720"	"18174720"	"subst"	"0.0048655"	"01943"	"IL12RB1_000172"	"g.18174720C>T"	""	""	""	"IL12RB1(NM_001290024.1):c.1704G>A (p.R568=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18063910C>T"	""	"benign"	""
"0000566606"	"0"	"30"	"19"	"18177476"	"18177476"	"subst"	"2.44069E-5"	"01943"	"IL12RB1_000219"	"g.18177476C>T"	""	""	""	"IL12RB1(NM_001290024.1):c.1479G>A (p.S493=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18066666C>T"	""	"likely benign"	""
"0000566607"	"0"	"30"	"19"	"18180447"	"18180447"	"subst"	"0.00288759"	"01943"	"IL12RB1_000152"	"g.18180447C>T"	""	""	""	"IL12RB1(NM_001290024.1):c.1218G>A (p.T406=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18069637C>T"	""	"likely benign"	""
"0000566608"	"0"	"30"	"19"	"18180447"	"18180447"	"subst"	"0.00288759"	"02326"	"IL12RB1_000152"	"g.18180447C>T"	""	""	""	"IL12RB1(NM_001290024.1):c.1218G>A (p.T406=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18069637C>T"	""	"likely benign"	""
"0000566609"	"0"	"10"	"19"	"18180451"	"18180451"	"subst"	"0.287276"	"02325"	"IL12RB1_000073"	"g.18180451A>G"	""	""	""	"IL12RB1(NM_005535.3):c.1094T>C (p.M365T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18069641A>G"	""	"benign"	""
"0000566610"	"0"	"30"	"19"	"18180489"	"18180489"	"subst"	"0.00160249"	"02326"	"IL12RB1_000149"	"g.18180489G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.1176C>T (p.N392=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18069679G>A"	""	"likely benign"	""
"0000566611"	"0"	"30"	"19"	"18182998"	"18182998"	"subst"	"1.6261E-5"	"01943"	"IL12RB1_000223"	"g.18182998G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.1065C>T (p.N355=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.18072188G>A"	""	"likely benign"	""
"0000592190"	"0"	"55"	"19"	"18197665"	"18197665"	"subst"	"4.63856E-6"	"00000"	"IL12RB1_000078"	"g.18197665G>A"	""	""	""	""	""	"Unknown"	""	"rs146195217"	"0"	""	""	"g.18086855G>A"	""	"VUS"	""
"0000592191"	"0"	"55"	"19"	"18197635"	"18197635"	"subst"	"0.164016"	"00000"	"IL12RB1_000079"	"g.18197635G>A"	"16%"	""	""	""	""	"Unknown"	""	"rs436857"	"0"	""	""	"g.18086825G>A"	""	"VUS"	""
"0000592192"	"0"	"55"	"19"	"18197626"	"18197626"	"subst"	"8.37717E-6"	"00000"	"IL12RB1_000080"	"g.18197626G>T"	"0-2%"	""	""	""	"This aminoacid change is tolerated according to SIFT and possibly damaging according to Polyphen-2 predictions"	"Unknown"	""	"rs17884651"	"0"	""	""	"g.18086816G>T"	""	"VUS"	""
"0000592193"	"0"	"57"	"19"	"18197613"	"18197613"	"subst"	"0"	"00000"	"IL12RB1_000081"	"g.18197613C>T"	""	""	""	""	""	"Unknown"	""	"rs150172855"	"0"	""	""	"g.18086803C>T"	""	"VUS"	""
"0000592194"	"3"	"77"	"19"	"18197613"	"18197613"	"subst"	"0"	"03027"	"IL12RB1_000081"	"g.18197613C>T"	""	"{PMID:Louvain de Souza 2017:28450854}"	""	""	"There is a stop-gain effect as the protein is detectable on the cell surface in reduced amounts. Probably a partial mutation although the IL-12 response has not been determined; in SNP database as rs150172855"	"Germline"	""	""	"0"	""	""	"g.18086803C>T"	""	"likely pathogenic"	""
"0000592195"	"3"	"95"	"19"	"18197613"	"18197613"	"subst"	"0"	"03027"	"IL12RB1_000081"	"g.18197613C>T"	""	"{PMID:Louvain de Souza 2017:28450854}"	""	""	"There is a stop-gain effect as the protein is detectable on the cell surface in reduced amounts. Probably a partial mutation although the IL-12 response has not been determined.  \r\nIn SNP database as rs150172855"	"Germline"	""	""	"0"	""	""	"g.18086803C>T"	""	"pathogenic"	""
"0000592196"	"3"	"77"	"19"	"18197613"	"18197613"	"subst"	"0"	"03027"	"IL12RB1_000081"	"g.18197613C>T"	""	"{PMID:Louvain de Souza 2017:28450854}"	""	""	"There is a stop-gain effect as the protein is detectable on the cell surface in reduced amounts. Probably a partial mutation although the IL-12 response has not been determined.  \r\nIn SNP database as: rs150172855"	"Germline"	""	""	"0"	""	""	"g.18086803C>T"	""	"likely pathogenic"	""
"0000592197"	"3"	"97"	"19"	"18197569"	"18197569"	"subst"	"0"	"00000"	"IL12RB1_000042"	"g.18197569C>A"	""	"{PMID:Aytekin 2011:21905505}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086759C>A"	""	"pathogenic"	""
"0000592198"	"3"	"97"	"19"	"18197568"	"18197568"	"subst"	"4.23682E-6"	"00000"	"IL12RB1_000057"	"g.18197568A>C"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086758A>C"	""	"pathogenic"	""
"0000592199"	"3"	"97"	"19"	"18197568"	"18197568"	"subst"	"4.23682E-6"	"00000"	"IL12RB1_000057"	"g.18197568A>C"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086758A>C"	""	"pathogenic"	""
"0000592200"	"3"	"97"	"19"	"18197568"	"18197568"	"subst"	"4.23682E-6"	"00000"	"IL12RB1_000057"	"g.18197568A>C"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086758A>C"	""	"pathogenic"	""
"0000592201"	"3"	"99"	"19"	"18197568"	"18197568"	"subst"	"4.23682E-6"	"00000"	"IL12RB1_000057"	"g.18197568A>C"	""	"personal communication Ozden Sanal"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086758A>C"	""	"pathogenic"	""
"0000592202"	"3"	"99"	"19"	"18197568"	"18197568"	"subst"	"4.23682E-6"	"00000"	"IL12RB1_000057"	"g.18197568A>C"	""	"personal communication Ozden Sanal"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086758A>C"	""	"pathogenic"	""
"0000592203"	"3"	"99"	"19"	"18197568"	"18197568"	"subst"	"4.23682E-6"	"00000"	"IL12RB1_000057"	"g.18197568A>C"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086758A>C"	""	"pathogenic"	""
"0000592204"	"3"	"99"	"19"	"18197568"	"18197568"	"subst"	"4.23682E-6"	"00000"	"IL12RB1_000057"	"g.18197568A>C"	""	"{PMID:Tan 2016:28276206}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086758A>C"	""	"pathogenic"	""
"0000592205"	"3"	"99"	"19"	"18197568"	"18197568"	"subst"	"4.23682E-6"	"00000"	"IL12RB1_000057"	"g.18197568A>C"	""	"{PMID:Tan 2016:28276206}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086758A>C"	""	"pathogenic"	""
"0000592206"	"3"	"99"	"19"	"18197568"	"18197568"	"subst"	"4.23682E-6"	"00000"	"IL12RB1_000057"	"g.18197568A>C"	""	"{PMID:Tan 2016:28276206}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086758A>C"	""	"pathogenic"	""
"0000592207"	"3"	"99"	"19"	"18197568"	"18197568"	"subst"	"4.23682E-6"	"00000"	"IL12RB1_000057"	"g.18197568A>C"	""	"{PMID:Tan 2016:28276206}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18086758A>C"	""	"pathogenic"	""
"0000592208"	"3"	"97"	"19"	"18197565"	"18197565"	"subst"	"0"	"00000"	"IL12RB1_000009"	"g.18197565C>T"	""	"{PMID: Elloumi-Zghal 2002:11992283}"	""	""	"substitution, affects splicing. One mRNA use cryptic splicing site in intron 1, thus including 52 bp of intron 1 and another cryptic exon. Other mRNA use cryptic splice site in intron 1 thus including 441 bp of intron 1 and excluding ex2-5"	"Germline"	""	""	"0"	""	""	"g.18086755C>T"	""	"pathogenic"	""
"0000592209"	"0"	"97"	"19"	"18194298"	"18194301"	"del"	"0"	"00000"	"IL12RB1_000035"	"g.18194298_18194301del"	""	"{PMID: Haerynck 2008:18940359}"	""	"c.65_68delCTGC"	""	"Germline"	""	""	"0"	""	""	"g.18083488_18083491del"	""	"pathogenic"	""
"0000592210"	"0"	"55"	"19"	"18194292"	"18194292"	"subst"	"1.21835E-5"	"00000"	"IL12RB1_000106"	"g.18194292C>T"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs200783433"	"0"	""	""	"g.18083482C>T"	""	"VUS"	""
"0000592211"	"0"	"99"	"19"	"18194272"	"18194272"	"subst"	"8.12302E-5"	"00000"	"IL12RB1_000001"	"g.18194272G>A"	""	"{PMID:Fieschi 2003:12591909}"	""	"Q32X, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18083462G>A"	""	"pathogenic"	""
"0000592212"	"3"	"97"	"19"	"18194272"	"18194272"	"subst"	"8.12302E-5"	"00000"	"IL12RB1_000001"	"g.18194272G>A"	""	"{PMID:Fieschi 2003:12591909}"	""	"Q32X, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18083462G>A"	""	"pathogenic"	""
"0000592213"	"3"	"97"	"19"	"18194272"	"18194272"	"subst"	"8.12302E-5"	"00000"	"IL12RB1_000001"	"g.18194272G>A"	""	"{PMID:Fieschi 2003:12591909}"	""	"Q32X, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18083462G>A"	""	"pathogenic"	""
"0000592214"	"3"	"97"	"19"	"18194272"	"18194272"	"subst"	"8.12302E-5"	"00000"	"IL12RB1_000001"	"g.18194272G>A"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"Q32X, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18083462G>A"	""	"pathogenic"	""
"0000592215"	"3"	"99"	"19"	"18194272"	"18194272"	"subst"	"8.12302E-5"	"01723"	"IL12RB1_000001"	"g.18194272G>A"	""	"{PMID: de Jong 1998:9603733}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18083462G>A"	""	"pathogenic"	""
"0000592216"	"0"	"55"	"19"	"18194267"	"18194267"	"subst"	"0"	"00000"	"IL12RB1_000082"	"g.18194267G>A"	"0.001"	""	""	""	""	"Unknown"	""	"rs148043883"	"0"	""	""	"g.18083457G>A"	""	"VUS"	""
"0000592217"	"0"	"55"	"19"	"18194266"	"18194266"	"subst"	"8.12229E-6"	"00000"	"IL12RB1_000083"	"g.18194266G>A"	"0.001"	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs202206502"	"0"	""	""	"g.18083456G>A"	""	"VUS"	""
"0000592218"	"0"	"55"	"19"	"18194265"	"18194265"	"subst"	"5.97851E-5"	"00000"	"IL12RB1_000084"	"g.18194265G>A"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs113524129"	"0"	""	""	"g.18083455G>A"	""	"VUS"	""
"0000592219"	"0"	"55"	"19"	"18194264"	"18194264"	"subst"	"0.00708617"	"00000"	"IL12RB1_000085"	"g.18194264C>T"	"0.4-1.1%"	""	""	""	""	"Unknown"	""	"rs146978336"	"0"	""	""	"g.18083454C>T"	""	"VUS"	""
"0000592220"	"0"	"55"	"19"	"18194261"	"18194261"	"subst"	"0"	"00000"	"IL12RB1_000086"	"g.18194261T>C"	"0.000"	""	""	""	""	"Unknown"	""	"rs146629359"	"0"	""	""	"g.18083451T>C"	""	"VUS"	""
"0000592221"	"0"	"55"	"19"	"18194256"	"18194256"	"subst"	"5.68505E-5"	"00000"	"IL12RB1_000087"	"g.18194256G>A"	"0.001"	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs142484991"	"0"	""	""	"g.18083446G>A"	""	"VUS"	""
"0000592222"	"0"	"55"	"19"	"18193071"	"18193071"	"subst"	"5.92222E-5"	"00000"	"IL12RB1_000088"	"g.18193071G>A"	"0.001"	""	""	""	"This aminoacid change is damaging according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs189309495"	"0"	""	""	"g.18082261G>A"	""	"VUS"	""
"0000592223"	"0"	"55"	"19"	"18193065"	"18193065"	"subst"	"1.2411E-5"	"00000"	"IL12RB1_000089"	"g.18193065G>A"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs150070244"	"0"	""	""	"g.18082255G>A"	""	"VUS"	""
"0000592224"	"0"	"55"	"19"	"18193061"	"18193061"	"subst"	"0"	"00000"	"IL12RB1_000090"	"g.18193061G>A"	"0.001"	""	""	""	""	"Unknown"	""	"rs144391404"	"0"	""	""	"g.18082251G>A"	""	"VUS"	""
"0000592225"	"0"	"55"	"19"	"18193060"	"18193060"	"subst"	"0.00328233"	"00000"	"IL12RB1_000091"	"g.18193060G>A"	"1-6.7%"	""	""	""	"This aminoacid change is damaging according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs17887176"	"0"	""	""	"g.18082250G>A"	""	"VUS"	""
"0000592226"	"0"	"55"	"19"	"18193047"	"18193047"	"subst"	"0"	"00000"	"IL12RB1_000092"	"g.18193047C>G"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs150816599"	"0"	""	""	"g.18082237C>G"	""	"VUS"	""
"0000592227"	"0"	"57"	"19"	"18193045"	"18193046"	""	"0"	"00000"	"IL12RB1_000093"	"g.18193045_18193046insG"	""	""	""	""	""	"Unknown"	""	"rs34519676"	"0"	""	""	"g.18082235_18082236insG"	""	"VUS"	""
"0000592228"	"1"	"99"	"19"	"18193030"	"18193030"	"del"	"0"	"00000"	"IL12RB1_000066"	"g.18193030del"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"169delA"	""	"Germline"	""	""	"0"	""	""	"g.18082220del"	""	"pathogenic"	""
"0000592229"	"3"	"99"	"19"	"18193030"	"18193030"	"del"	"0"	"00000"	"IL12RB1_000066"	"g.18193030del"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18082220del"	""	"pathogenic"	""
"0000592230"	"0"	"55"	"19"	"18193023"	"18193023"	"subst"	"3.66068E-5"	"00000"	"IL12RB1_000094"	"g.18193023C>T"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs142273743"	"0"	""	""	"g.18082213C>T"	""	"VUS"	""
"0000592231"	"0"	"55"	"19"	"18193020"	"18193020"	"subst"	"2.44012E-5"	"00000"	"IL12RB1_000095"	"g.18193020T>C"	"0.000"	""	""	""	"This aminoacid change is damagingaccording to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs140770932"	"0"	""	""	"g.18082210T>C"	""	"VUS"	""
"0000592232"	"0"	"55"	"19"	"18193019"	"18193019"	"subst"	"0.000553156"	"00000"	"IL12RB1_000096"	"g.18193019G>A"	""	""	""	""	""	"Unknown"	""	"rs146102898"	"0"	""	""	"g.18082209G>A"	""	"VUS"	""
"0000592233"	"0"	"55"	"19"	"18193018"	"18193018"	"subst"	"1.62685E-5"	"00000"	"IL12RB1_000097"	"g.18193018C>T"	"0.008"	""	""	""	"This aminoacid change is tolerated according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs117720235"	"0"	""	""	"g.18082208C>T"	""	"VUS"	""
"0000592234"	"3"	"97"	"19"	"18193017"	"18193017"	"subst"	"0"	"00000"	"IL12RB1_000185"	"g.18193017T>C"	""	"{PMID:Ramirez-Alejo 2013:23952477}"	""	""	"also reported in: Alejo Immunology2011 P58.5"	"Germline"	""	""	"0"	""	""	"g.18082207T>C"	""	"pathogenic"	""
"0000592235"	"2"	"97"	"19"	"18193015"	"18193015"	"subst"	"0"	"00000"	"IL12RB1_000067"	"g.18193015A>C"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"C62G, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18082205A>C"	""	"pathogenic"	""
"0000592236"	"3"	"99"	"19"	"18193008"	"18193008"	"subst"	"0"	"00000"	"IL12RB1_000193"	"g.18193008C>T"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18082198C>T"	""	"pathogenic"	""
"0000592237"	"0"	"11"	"19"	"18192977"	"18192977"	"subst"	"0.00207202"	"00000"	"IL12RB1_000069"	"g.18192977G>C"	"0.1-0.4"	"{PMID: van de Vosse 2005:16293671}"	""	""	""	"Unknown"	""	"rs11575925"	"0"	""	""	"g.18082167G>C"	""	"benign"	""
"0000592238"	"3"	"97"	"19"	"18192969"	"18192969"	"subst"	"0"	"00000"	"IL12RB1_000028"	"g.18192969A>G"	""	"{PMID:Fieschi 2003:12591909}"	""	"L77P, mutation not specified"	"detectable on membrane with antibody 2B10, not with antibody 2.4E6 {PMID 16293671: van de Vosse 2005} {PMID 21057261: de Beaucoudrey 2010}"	"Germline"	""	""	"0"	""	""	"g.18082159A>G"	""	"pathogenic"	""
"0000592239"	"0"	"55"	"19"	"18191798"	"18191798"	"subst"	"4.89932E-5"	"00000"	"IL12RB1_000098"	"g.18191798G>A"	"0.000"	""	""	""	"This aminoacid change is damaging according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs138859377"	"0"	""	""	"g.18080988G>A"	""	"VUS"	""
"0000592240"	"3"	"99"	"19"	"18191787"	"18191787"	"subst"	"0"	"00000"	"IL12RB1_000192"	"g.18191787G>C"	""	"{PMID: de Beaucoudrey 2010:21057261}"	""	"published as Y88X"	""	"Germline"	""	""	"0"	""	""	"g.18080977G>C"	""	"pathogenic"	""
"0000592241"	"3"	"99"	"19"	"18191787"	"18191787"	"subst"	"0"	"00000"	"IL12RB1_000192"	"g.18191787G>C"	""	"{PMID: de Beaucoudrey 2010:21057261}"	""	"published as Y88X"	""	"Germline"	""	""	"0"	""	""	"g.18080977G>C"	""	"pathogenic"	""
"0000592242"	"3"	"99"	"19"	"18191787"	"18191787"	"subst"	"0"	"00000"	"IL12RB1_000192"	"g.18191787G>C"	""	"{PMID: de Beaucoudrey 2010:21057261}"	""	"published as Y88X"	""	"Germline"	""	""	"0"	""	""	"g.18080977G>C"	""	"pathogenic"	""
"0000592243"	"3"	"99"	"19"	"18191787"	"18191787"	"subst"	"0"	"00000"	"IL12RB1_000192"	"g.18191787G>C"	""	"{PMID: de Beaucoudrey 2010:21057261}"	""	"published as Y88X"	""	"Germline"	""	""	"0"	""	""	"g.18080977G>C"	""	"pathogenic"	""
"0000592244"	"3"	"99"	"19"	"18191787"	"18191787"	"subst"	"0"	"00000"	"IL12RB1_000192"	"g.18191787G>C"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18080977G>C"	""	"pathogenic"	""
"0000592245"	"0"	"55"	"19"	"18191783"	"18191783"	"subst"	"1.22116E-5"	"00000"	"IL12RB1_000099"	"g.18191783C>T"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and possilbly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs144128347"	"0"	""	""	"g.18080973C>T"	""	"VUS"	""
"0000592246"	"0"	"55"	"19"	"18191781"	"18191781"	"subst"	"1.62767E-5"	"00000"	"IL12RB1_000100"	"g.18191781G>A"	""	""	""	""	""	"Unknown"	""	"rs199719163"	"0"	""	""	"g.18080971G>A"	""	"VUS"	""
"0000592247"	"0"	"33"	"19"	"18191780"	"18191780"	"subst"	"0.00334505"	"00000"	"IL12RB1_000070"	"g.18191780C>T"	"n.a."	""	""	""	"nno effect on IL-12 response in retroviral expression model (van de Vosse unpublished)"	"Unknown"	""	"rs147215816"	"0"	""	""	"g.18080970C>T"	""	"likely benign"	""
"0000592249"	"0"	"55"	"19"	"18191778"	"18191778"	"subst"	"0.000195282"	"00000"	"IL12RB1_000101"	"g.18191778G>A"	"0.001"	""	""	""	""	"Unknown"	""	"rs138087003"	"0"	""	""	"g.18080968G>A"	""	"VUS"	""
"0000592250"	"0"	"55"	"19"	"18191772"	"18191772"	"subst"	"2.03307E-5"	"00000"	"IL12RB1_000102"	"g.18191772T>C"	"0.000"	""	""	""	""	"Unknown"	""	"rs138099877"	"0"	""	""	"g.18080962T>C"	""	"VUS"	""
"0000592251"	"0"	"57"	"19"	"18191764"	"18191764"	"del"	"0"	"00000"	"IL12RB1_000103"	"g.18191764del"	""	""	""	""	""	"Unknown"	""	"rs34466489"	"0"	""	""	"g.18080954del"	""	"VUS"	""
"0000592252"	"0"	"55"	"19"	"18191751"	"18191751"	"subst"	"0.000166585"	"00000"	"IL12RB1_000104"	"g.18191751G>A"	"0.000"	""	""	""	""	"Unknown"	""	"rs147419888"	"0"	""	""	"g.18080941G>A"	""	"VUS"	""
"0000592253"	"0"	"55"	"19"	"18191731"	"18191731"	"subst"	"0.000174641"	"00000"	"IL12RB1_000105"	"g.18191731A>G"	"0.000"	""	""	""	"This aminoacid change is damaging according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs150285174"	"0"	""	""	"g.18080921A>G"	""	"VUS"	""
"0000592254"	"21"	"97"	"19"	"18191701"	"18191701"	"subst"	"0"	"00000"	"IL12RB1_000200"	"g.18191701G>T"	""	"{PMID:Schepers 2013:24114017}"	""	"not published (inferred)"	""	"Germline"	""	""	"0"	""	""	"g.18080891G>T"	""	"pathogenic"	""
"0000592255"	"0"	"55"	"19"	"18191664"	"18191664"	"subst"	"0.118207"	"00000"	"IL12RB1_000107"	"g.18191664C>G"	"1.7-20%"	""	""	""	""	"Unknown"	""	"rs11086087"	"0"	""	""	"g.18080854C>G"	""	"VUS"	""
"0000592256"	"0"	"55"	"19"	"18191661"	"18191661"	"subst"	"0.000194932"	"00000"	"IL12RB1_000108"	"g.18191661G>A"	"0.002"	""	""	""	""	"Unknown"	""	"rs201723337"	"0"	""	""	"g.18080851G>A"	""	"VUS"	""
"0000592257"	"3"	"97"	"19"	"18191649"	"18191649"	"subst"	"0"	"00000"	"IL12RB1_000038"	"g.18191649G>T"	""	"{PMID: Luangwedchakarn 2009:19839503}"	""	""	"protein change published as: p.Y133X"	"Germline"	""	""	"0"	""	""	"g.18080839G>T"	""	"pathogenic"	""
"0000592258"	"0"	"11"	"19"	"18188408"	"18188408"	"subst"	"0.127387"	"00000"	"IL12RB1_000071"	"g.18188408C>T"	"0-20%"	"{PMID: van de Vosse 2005:16293671}"	""	""	""	"Unknown"	""	"rs11575926"	"0"	""	""	"g.18077598C>T"	""	"benign"	""
"0000592259"	"3"	"97"	"19"	"18188393"	"18188409"	"del"	"0"	"01723"	"IL12RB1_000030"	"g.18188393_18188409del"	""	"{PMID:Lichtenauer-Kaligis 2003:12594833}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18077583_18077599del"	""	"pathogenic"	""
"0000592260"	"0"	"97"	"19"	"18188363"	"18188363"	"subst"	"8.17047E-6"	"00000"	"IL12RB1_000026"	"g.18188363T>G"	""	"{PMID:Fieschi 2003:12591909}"	""	"Q171P, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18077553T>G"	""	"pathogenic"	""
"0000592261"	"0"	"97"	"19"	"18188363"	"18188363"	"subst"	"8.17047E-6"	"00000"	"IL12RB1_000026"	"g.18188363T>G"	""	"{PMID:Fieschi 2003:12591909}"	""	"Q171P, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18077553T>G"	""	"pathogenic"	""
"0000592262"	"3"	"99"	"19"	"18188363"	"18188363"	"subst"	"8.17047E-6"	"00000"	"IL12RB1_000026"	"g.18188363T>G"	""	"{PMID:Alinejad Dizaj 2018:29256176}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18077553T>G"	""	"pathogenic"	""
"0000592263"	"3"	"97"	"19"	"18188358"	"18188358"	"subst"	"0"	"00000"	"IL12RB1_000043"	"g.18188358G>A"	""	"{PMID:Boisson-Dupuis 2011:21533230}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18077548G>A"	""	"pathogenic"	""
"0000592264"	"2"	"97"	"19"	"18188358"	"18188358"	"subst"	"0"	"00000"	"IL12RB1_000043"	"g.18188358G>A"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"R173W, mutation not specified"	"mutation not specified but most likely c.517C>T"	"Germline"	""	""	"0"	""	""	"g.18077548G>A"	""	"pathogenic"	""
"0000592265"	"3"	"99"	"19"	"18188358"	"18188358"	"subst"	"0"	"00000"	"IL12RB1_000043"	"g.18188358G>A"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"R173W, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18077548G>A"	""	"pathogenic"	""
"0000592266"	"3"	"99"	"19"	"18188358"	"18188358"	"subst"	"0"	"00000"	"IL12RB1_000043"	"g.18188358G>A"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"R173W, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18077548G>A"	""	"pathogenic"	""
"0000592267"	"3"	"99"	"19"	"18188358"	"18188358"	"subst"	"0"	"00000"	"IL12RB1_000043"	"g.18188358G>A"	""	"{PMID:Alinejad Dizaj 2018:29256176}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18077548G>A"	""	"pathogenic"	""
"0000592268"	"3"	"97"	"19"	"18188357"	"18188357"	"subst"	"0"	"00000"	"IL12RB1_000007"	"g.18188357C>G"	""	"{PMID:Aksu 2001:11368122}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18077547C>G"	""	"pathogenic"	""
"0000592269"	"3"	"97"	"19"	"18188357"	"18188357"	"subst"	"0"	"00000"	"IL12RB1_000007"	"g.18188357C>G"	""	"{PMID:Fieschi 2003:12591909}"	""	"R173P, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18077547C>G"	""	"pathogenic"	""
"0000592270"	"3"	"99"	"19"	"18188357"	"18188357"	"subst"	"0"	"01723"	"IL12RB1_000007"	"g.18188357C>G"	""	"{PMID: Sanal 2006:16418797}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18077547C>G"	""	"pathogenic"	""
"0000592271"	"3"	"97"	"19"	"18188357"	"18188357"	"subst"	"0"	"00000"	"IL12RB1_000007"	"g.18188357C>G"	""	"{PMID: Kutukculer 2006:16615980}"	""	"R173P, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18077547C>G"	""	"pathogenic"	""
"0000592272"	"3"	"99"	"19"	"18188357"	"18188357"	"subst"	"0"	"00000"	"IL12RB1_000007"	"g.18188357C>G"	""	"{PMID:de Beaucoudrey 2008:18591412}"	""	"R173P, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18077547C>G"	""	"pathogenic"	""
"0000592273"	"3"	"99"	"19"	"18188357"	"18188357"	"subst"	"0"	"01723"	"IL12RB1_000007"	"g.18188357C>G"	""	"{PMID: van de Vosse 2010:20213287}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18077547C>G"	""	"pathogenic"	""
"0000592274"	"3"	"97"	"19"	"18188352"	"18188352"	"subst"	"0"	"00000"	"IL12RB1_000033"	"g.18188352G>A"	""	"{PMID:Ozen 2006:16531420}"	""	"670C>T"	""	"Germline"	""	""	"0"	""	""	"g.18077542G>A"	""	"pathogenic"	""
"0000592275"	"3"	"97"	"19"	"18188352"	"18188352"	"subst"	"0"	"00000"	"IL12RB1_000033"	"g.18188352G>A"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"R175W, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18077542G>A"	""	"pathogenic"	""
"0000592276"	"3"	"99"	"19"	"18188352"	"18188352"	"subst"	"0"	"00000"	"IL12RB1_000033"	"g.18188352G>A"	""	"personal communication Ozden Sanal"	""	""	"data not published yet"	"Germline"	""	""	"0"	""	""	"g.18077542G>A"	""	"pathogenic"	""
"0000592277"	"3"	"99"	"19"	"18188352"	"18188352"	"subst"	"0"	"00000"	"IL12RB1_000033"	"g.18188352G>A"	""	"{PMID:Tan 2016:28276206}"	""	"n.a."	""	"Germline"	""	""	"0"	""	""	"g.18077542G>A"	""	"pathogenic"	""
"0000592278"	"3"	"99"	"19"	"18188352"	"18188352"	"subst"	"0"	"00000"	"IL12RB1_000033"	"g.18188352G>A"	""	"{PMID:Tan 2016:28276206}"	""	"n.a."	""	"Germline"	""	""	"0"	""	""	"g.18077542G>A"	""	"pathogenic"	""
"0000592279"	"3"	"99"	"19"	"18188352"	"18188352"	"subst"	"0"	"00000"	"IL12RB1_000033"	"g.18188352G>A"	""	"{PMID:Tan 2016:28276206}"	""	"n.a."	""	"Germline"	""	""	"0"	""	""	"g.18077542G>A"	""	"pathogenic"	""
"0000592280"	"0"	"55"	"19"	"18188327"	"18188327"	"subst"	"4.18582E-6"	"00000"	"IL12RB1_000109"	"g.18188327A>G"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs200328413"	"0"	""	""	"g.18077517A>G"	""	"VUS"	""
"0000592281"	"3"	"97"	"19"	"18188324"	"18188324"	"subst"	"0"	"00000"	"IL12RB1_000024"	"g.18188324A>G"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18077514A>G"	""	"pathogenic"	""
"0000592282"	"3"	"97"	"19"	"18187139"	"18187139"	"subst"	"0"	"00000"	"IL12RB1_000008"	"g.18187139T>C"	""	"{PMID 11992283:Elloumi-Zghal 2002}"	""	""	"substitution, affects splicing"	"Germline"	""	""	"0"	""	""	"g.18076329T>C"	""	"pathogenic"	""
"0000592283"	"0"	"55"	"19"	"18187135"	"18187135"	"subst"	"5.69272E-5"	"00000"	"IL12RB1_000110"	"g.18187135G>A"	"0.001"	""	""	""	""	"Unknown"	""	"rs193097863"	"0"	""	""	"g.18076325G>A"	""	"VUS"	""
"0000592284"	"3"	"97"	"19"	"18187131"	"18187131"	"subst"	"0"	"00000"	"IL12RB1_000020"	"g.18187131A>T"	""	"{PMID:Fieschi 2003:12591909}"	""	"C186S, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18076321A>T"	""	"pathogenic"	""
"0000592285"	"3"	"97"	"19"	"18187131"	"18187131"	"subst"	"0"	"00000"	"IL12RB1_000020"	"g.18187131A>T"	""	"{PMID:Fieschi 2003:12591909}"	""	"C186S, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18076321A>T"	""	"pathogenic"	""
"0000592286"	"3"	"97"	"19"	"18187131"	"18187131"	"subst"	"0"	"00000"	"IL12RB1_000020"	"g.18187131A>T"	""	"{PMID:Elhayel 2008:18718650}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18076321A>T"	""	"pathogenic"	""
"0000592287"	"3"	"99"	"19"	"18187131"	"18187131"	"subst"	"0"	"00000"	"IL12RB1_000020"	"g.18187131A>T"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"C186S, mutation not specified"	""	"Unknown"	""	""	"0"	""	""	"g.18076321A>T"	""	"pathogenic"	""
"0000592288"	"3"	"99"	"19"	"18187131"	"18187131"	"subst"	"0"	"00000"	"IL12RB1_000020"	"g.18187131A>T"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"C186S, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18076321A>T"	""	"pathogenic"	""
"0000592289"	"3"	"97"	"19"	"18187130"	"18187130"	"subst"	"4.06359E-6"	"00000"	"IL12RB1_000039"	"g.18187130C>T"	""	"{PMID:Vinh 2011:21258095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18076320C>T"	""	"pathogenic"	""
"0000592290"	"3"	"99"	"19"	"18187130"	"18187130"	"subst"	"4.06359E-6"	"00000"	"IL12RB1_000039"	"g.18187130C>T"	""	"personal communication Ben Zion Garty"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18076320C>T"	""	"pathogenic"	""
"0000592291"	"3"	"99"	"19"	"18187130"	"18187130"	"subst"	"4.06359E-6"	"00000"	"IL12RB1_000039"	"g.18187130C>T"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18076320C>T"	""	"pathogenic"	""
"0000592292"	"3"	"99"	"19"	"18187124"	"18187130"	"delins"	"0"	"01723"	"IL12RB1_000064"	"g.18187124_18187130delinsTGATATCT"	""	"{PMID: de Jong 1998:9603733}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18076314_18076320delinsTGATATCT"	""	"pathogenic"	""
"0000592293"	"3"	"99"	"19"	"18187124"	"18187130"	"delins"	"0"	"00000"	"IL12RB1_000064"	"g.18187124_18187130delinsTGATATCT"	""	"{PMID:Fieschi 2003:12591909}"	""	"c.557_563delins8"	""	"Germline"	""	""	"0"	""	""	"g.18076314_18076320delinsTGATATCT"	""	"pathogenic"	""
"0000592294"	"3"	"99"	"19"	"18187129"	"18187129"	"subst"	"0"	"00000"	"IL12RB1_000194"	"g.18187129G>T"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18076319G>T"	""	"pathogenic"	""
"0000592295"	"0"	"55"	"19"	"18187126"	"18187126"	"subst"	"4.87603E-5"	"00000"	"IL12RB1_000111"	"g.18187126T>A"	"0.001"	""	""	""	""	"Unknown"	""	"rs200542111"	"0"	""	""	"g.18076316T>A"	""	"VUS"	""
"0000592296"	"3"	"97"	"19"	"18187106"	"18187106"	"subst"	"0"	"00000"	"IL12RB1_000049"	"g.18187106C>T"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18076296C>T"	""	"pathogenic"	""
"0000592297"	"3"	"97"	"19"	"0"	"0"	""	"0"	"00000"	"IL12RB1_000188"	"g.?"	""	"{PMID:Ramirez-Alejo 2013:23952477}"	""	""	"data first reported in abstract: Ramirez-Alejo CIS2012 P398"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000592298"	"3"	"99"	"19"	"18186667"	"18186667"	"subst"	"0"	"00000"	"IL12RB1_000012"	"g.18186667A>G"	""	"{PMID:de Beaucoudrey 2008:18591412}"	""	"C198R, mutation not specified"	"this mutation leads to a partial deficiency, see {PMID 16293671: van de Vosse 2005}"	"Unknown"	""	""	"0"	""	""	"g.18075857A>G"	""	"pathogenic"	""
"0000592299"	"3"	"99"	"19"	"18186667"	"18186667"	"subst"	"0"	"00000"	"IL12RB1_000012"	"g.18186667A>G"	""	"{PMID:de Beaucoudrey 2008:18591412}"	""	"C198R, mutation not specified"	"this mutation leads to a partial deficiency, see {PMID 16293671: van de Vosse 2005}"	"Unknown"	""	""	"0"	""	""	"g.18075857A>G"	""	"pathogenic"	""
"0000592300"	"3"	"99"	"19"	"18186667"	"18186667"	"subst"	"0"	"00000"	"IL12RB1_000012"	"g.18186667A>G"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"C198R, mutation not specified"	"this mutation leads to a partial deficiency, see {PMID  16293671: van de Vosse 2005}"	"Germline"	""	""	"0"	""	""	"g.18075857A>G"	""	"pathogenic"	""
"0000592301"	"3"	"99"	"19"	"18186667"	"18186667"	"subst"	"0"	"01723"	"IL12RB1_000012"	"g.18186667A>G"	""	"{PMID:Lichtenauer-Kaligis 2003:12594833}"	""	"C198R, mutation not specified"	"this mutation leads to a partial deficiency, see {PMID 16293671: van de Vosse 2005}"	"Germline"	""	""	"0"	""	""	"g.18075857A>G"	""	"pathogenic"	""
"0000592302"	"0"	"55"	"19"	"18186663"	"18186663"	"subst"	"3.65556E-5"	"00000"	"IL12RB1_000112"	"g.18186663G>C"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs201652727"	"0"	""	""	"g.18075853G>C"	""	"VUS"	""
"0000592303"	"0"	"55"	"19"	"18186662"	"18186662"	"subst"	"5.68616E-5"	"00000"	"IL12RB1_000113"	"g.18186662G>T"	"0.001"	""	""	""	""	"Unknown"	""	"rs141341557"	"0"	""	""	"g.18075852G>T"	""	"VUS"	""
"0000592304"	"3"	"97"	"19"	"18186658"	"18186658"	"subst"	"0"	"00000"	"IL12RB1_000196"	"g.18186658C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.18075848C>G"	""	"pathogenic"	""
"0000592305"	"0"	"55"	"19"	"18186657"	"18186657"	"subst"	"0.000528026"	"00000"	"IL12RB1_000114"	"g.18186657T>G"	"0.006"	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs139505765"	"0"	""	""	"g.18075847T>G"	""	"VUS"	""
"0000592306"	"0"	"55"	"19"	"18186654"	"18186654"	"subst"	"2.437E-5"	"00000"	"IL12RB1_000115"	"g.18186654A>C"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs182250241"	"0"	""	""	"g.18075844A>C"	""	"VUS"	""
"0000592307"	"0"	"55"	"19"	"18186647"	"18186647"	"subst"	"9.34109E-5"	"00000"	"IL12RB1_000116"	"g.18186647C>T"	"0.000"	""	""	""	""	"Unknown"	""	"rs142934088"	"0"	""	""	"g.18075837C>T"	""	"VUS"	""
"0000592308"	"11"	"97"	"19"	"18186634"	"18186634"	"subst"	"0"	"00000"	"IL12RB1_000062"	"g.18186634G>A"	""	"{PMID:Jinapongsananuruk 2012:22523911}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18075824G>A"	""	"pathogenic"	""
"0000592309"	"1"	"99"	"19"	"18186634"	"18186634"	"subst"	"0"	"00000"	"IL12RB1_000062"	"g.18186634G>A"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18075824G>A"	""	"pathogenic"	""
"0000592310"	"3"	"97"	"19"	"18186615"	"18186631"	"dup"	"0"	"00000"	"IL12RB1_000032"	"g.18186615_18186631dup"	""	"{PMID:Tanir 2006:16501992}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.18075805_18075821dup"	""	"pathogenic"	""
"0000592311"	"3"	"99"	"19"	"18186615"	"18186631"	"dup"	"0"	"00000"	"IL12RB1_000032"	"g.18186615_18186631dup"	""	"{PMID:Tanir 2006:16501992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18075805_18075821dup"	""	"pathogenic"	""
"0000592312"	"3"	"99"	"19"	"18186628"	"18186628"	"subst"	"8.12427E-6"	"00000"	"IL12RB1_000191"	"g.18186628G>A"	""	"{PMID:Gokturk 2016:28266204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18075818G>A"	""	"pathogenic"	""
"0000592313"	"3"	"97"	"19"	"18186627"	"18186627"	"subst"	"1.6248E-5"	"00000"	"IL12RB1_000034"	"g.18186627C>G"	""	"{PMID:Lee 2009:18972195}"	""	"696G>C"	""	"Germline"	""	""	"0"	""	""	"g.18075817C>G"	""	"pathogenic"	""
"0000592314"	"2"	"97"	"19"	"18186627"	"18186627"	"subst"	"1.6248E-5"	"00000"	"IL12RB1_000034"	"g.18186627C>G"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"R211P, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18075817C>G"	""	"pathogenic"	""
"0000592315"	"0"	"57"	"19"	"18186626"	"18186626"	"del"	"0"	"00000"	"IL12RB1_000117"	"g.18186626del"	"0.000"	""	""	""	""	"Unknown"	""	"rs150522661"	"0"	""	""	"g.18075816del"	""	"VUS"	""
"0000592316"	"3"	"97"	"19"	"18186622"	"18186622"	"subst"	"2.4375E-5"	"00000"	"IL12RB1_000006"	"g.18186622G>A"	""	"{PMID:Sakai 2001:11313259}"	""	"701C>T"	""	"Germline"	""	""	"0"	""	""	"g.18075812G>A"	""	"pathogenic"	""
"0000592317"	"3"	"97"	"19"	"18186622"	"18186622"	"subst"	"2.4375E-5"	"00000"	"IL12RB1_000006"	"g.18186622G>A"	""	"{PMID:Altare 2001:11424023}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18075812G>A"	""	"pathogenic"	""
"0000592318"	"3"	"99"	"19"	"18186622"	"18186622"	"subst"	"2.4375E-5"	"00000"	"IL12RB1_000006"	"g.18186622G>A"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18075812G>A"	""	"pathogenic"	""
"0000592319"	"0"	"11"	"19"	"18186618"	"18186618"	"subst"	"0.27736"	"00000"	"IL12RB1_000072"	"g.18186618T>C"	"10-38%"	"{PMID: van de Vosse 2005:16293671}"	""	""	""	"Unknown"	""	"rs11575934"	"0"	""	""	"g.18075808T>C"	""	"benign"	""
"0000592320"	"0"	"55"	"19"	"18186606"	"18186606"	"subst"	"1.21862E-5"	"00000"	"IL12RB1_000118"	"g.18186606T>G"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs148994509"	"0"	""	""	"g.18075796T>G"	""	"VUS"	""
"0000592321"	"3"	"97"	"19"	"18186601"	"18186601"	"subst"	"0"	"00000"	"IL12RB1_000186"	"g.18186601T>A"	""	"{PMID:Ramirez-Alejo 2013:23952477}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18075791T>A"	""	"pathogenic"	""
"0000592322"	"0"	"33"	"19"	"18186575"	"18186575"	"subst"	"0.277442"	"00000"	"IL12RB1_000119"	"g.18186575G>A"	"7.6-38.4%"	""	""	""	""	"Unknown"	""	"rs17852635"	"0"	""	""	"g.18075765G>A"	""	"likely benign"	""
"0000592323"	"0"	"55"	"19"	"18186572"	"18186572"	"subst"	"0"	"00000"	"IL12RB1_000120"	"g.18186572C>A"	"0.000"	""	""	""	""	"Unknown"	""	"rs149768779"	"0"	""	""	"g.18075762C>A"	""	"VUS"	""
"0000592324"	"0"	"55"	"19"	"18186568"	"18186568"	"subst"	"8.12401E-6"	"00000"	"IL12RB1_000121"	"g.18186568C>T"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs140762977"	"0"	""	""	"g.18075758C>T"	""	"VUS"	""
"0000592325"	"0"	"55"	"19"	"18186565"	"18186565"	"subst"	"0"	"00000"	"IL12RB1_000122"	"g.18186565G>A"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs201567666"	"0"	""	""	"g.18075755G>A"	""	"VUS"	""
"0000592326"	"0"	"55"	"19"	"18186564"	"18186564"	"subst"	"7.3116E-5"	"00000"	"IL12RB1_000123"	"g.18186564G>A"	"0.001"	""	""	""	"This aminoacid change is damaging according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs147436538"	"0"	""	""	"g.18075754G>A"	""	"VUS"	""
"0000592327"	"3"	"97"	"19"	"18174031"	"18186197"	"del"	"0"	"00000"	"IL12RB1_000018"	"g.18174031_18186197del"	""	"{PMID:Scheuerman 2007:17710793}"	""	"genomic deletion of exon 8-13"	"Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000592328"	"3"	"99"	"19"	"18174031"	"18186197"	"del"	"0"	"00000"	"IL12RB1_000018"	"g.18174031_18186197del"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	"Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000592329"	"3"	"97"	"19"	"18174031"	"18186197"	"del"	"0"	"00000"	"IL12RB1_000018"	"g.18174031_18186197del"	""	"{PMID:Staretz-Haham 2003:12830418}"	""	"genomic deletion of exon 8-13"	"Exact description of this mutation published in Fieschi et al 2003 (PMID 12591909).\r\n3 additional patients identified in the same family later (personal communication Arnon Broids)\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000592330"	"21"	"97"	"19"	"18184405"	"18184405"	"del"	"0"	"00000"	"IL12RB1_000063"	"g.18184405del"	""	"{PMID:Jinapongsananuruk 2012:22523911}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18073595del"	""	"pathogenic"	""
"0000592331"	"3"	"97"	"19"	"18184405"	"18184405"	"dup"	"0"	"00000"	"IL12RB1_000031"	"g.18184405dup"	""	"{PMID:Tanir 2006:16501992}"	""	"711insC"	""	"Unknown"	""	""	"0"	""	""	"g.18073595dup"	""	"pathogenic"	""
"0000592332"	"0"	"55"	"19"	"18184398"	"18184398"	"subst"	"0.000183226"	"00000"	"IL12RB1_000124"	"g.18184398G>C"	"0.001"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs200977237"	"0"	""	""	"g.18073588G>C"	""	"VUS"	""
"0000592333"	"0"	"55"	"19"	"18184379"	"18184379"	"subst"	"0.000134205"	"00000"	"IL12RB1_000125"	"g.18184379G>A"	"0.001"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs200203598"	"0"	""	""	"g.18073569G>A"	""	"VUS"	""
"0000592334"	"0"	"55"	"19"	"18184378"	"18184378"	"subst"	"6.09935E-5"	"00000"	"IL12RB1_000126"	"g.18184378C>A"	"0.000"	""	""	""	""	"Unknown"	""	"rs145487261"	"0"	""	""	"g.18073568C>A"	""	"VUS"	""
"0000592335"	"0"	"55"	"19"	"18184375"	"18184375"	"subst"	"0.000191111"	"00000"	"IL12RB1_000127"	"g.18184375C>T"	"0.002-0.022"	""	""	""	""	"Unknown"	""	"rs17878522"	"0"	""	""	"g.18073565C>T"	""	"VUS"	""
"0000592336"	"0"	"55"	"19"	"18184357"	"18184357"	"subst"	"0"	"00000"	"IL12RB1_000128"	"g.18184357A>G"	""	""	""	""	""	"Unknown"	""	"rs112771181"	"0"	""	""	"g.18073547A>G"	""	"VUS"	""
"0000592337"	"0"	"55"	"19"	"18184338"	"18184338"	"subst"	"6.91242E-5"	"00000"	"IL12RB1_000129"	"g.18184338G>C"	"0.000"	""	""	""	"This aminoacid change is damaging according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs138189707"	"0"	""	""	"g.18073528G>C"	""	"VUS"	""
"0000592338"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"01723"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID: Lichtenauer-Kaligis 2003:12594833}"	""	"exon 8+1 G>A"	"substitution, affecting splicing"	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592339"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"01723"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID: Lichtenauer-Kaligis 2003:12594833}"	""	"exon 8+1 G>A"	"substitution, affecting splicing"	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592340"	"3"	"97"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID:Fieschi 2003:12591909}"	""	"exon 8+1 G>A"	"substitution, affecting splicing"	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592341"	"3"	"97"	"19"	"18184326"	"18184326"	"subst"	"0"	"01723"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID: Sanal 2006:16418797}"	""	""	"splice effect: skip exon 8 or both exon 5 and 8"	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592342"	"3"	"97"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID:Tanir 2006:16501992}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592343"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"exon 8+1 G>A"	""	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592344"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592345"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	"substitution, affecting splicing"	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592346"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID:Fliiz 2012:23004925}"	""	"exon 8+1 G>A"	"substitution, affecting splicing"	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592347"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	"Zinovieva ESID2012 P605"	""	"exon 8+1 G>A"	"substitution, affecting splicing"	"Unknown"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592348"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	""	""	"exon 8+1 G>A"	"substitution, affecting splicing of exon 8"	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592349"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	"personal communication Ozden Sanal"	""	""	"data not published yet"	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592350"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID:Parvaneh 2016:27873456}"	""	"exon 8+1 G>A"	"substitution, affecting splicing"	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592351"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000011"	"g.18184326C>T"	""	"{PMID:Tan 2016:28276206}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18073516C>T"	""	"pathogenic"	""
"0000592352"	"3"	"99"	"19"	"18184326"	"18184326"	"subst"	"0"	"00000"	"IL12RB1_000068"	"g.18184326C>G"	""	"{PMID:Altare 1998:9603732}"	""	""	"mutation affects splicing of exon 8"	"Germline"	""	""	"0"	""	""	"g.18073516C>G"	""	"pathogenic"	""
"0000592353"	"0"	"55"	"19"	"18183143"	"18183143"	"subst"	"1.63022E-5"	"00000"	"IL12RB1_000130"	"g.18183143A>G"	"0.001"	""	""	""	"This aminoacid change is tolerated according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs200508693"	"0"	""	""	"g.18072333A>G"	""	"VUS"	""
"0000592354"	"0"	"55"	"19"	"18183122"	"18183122"	"subst"	"0"	"00000"	"IL12RB1_000131"	"g.18183122A>T"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs150555147"	"0"	""	""	"g.18072312A>T"	""	"VUS"	""
"0000592355"	"0"	"55"	"19"	"18183119"	"18183119"	"subst"	"0.000431782"	"00000"	"IL12RB1_000132"	"g.18183119G>A"	"0.001"	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs201831465"	"0"	""	""	"g.18072309G>A"	""	"VUS"	""
"0000592356"	"0"	"55"	"19"	"18183118"	"18183118"	"subst"	"2.03528E-5"	"00000"	"IL12RB1_000133"	"g.18183118C>T"	"0.000"	""	""	""	""	"Unknown"	""	"rs141737618"	"0"	""	""	"g.18072308C>T"	""	"VUS"	""
"0000592357"	"0"	"55"	"19"	"18183110"	"18183110"	"subst"	"0.000170905"	"00000"	"IL12RB1_000134"	"g.18183110G>A"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs201223132"	"0"	""	""	"g.18072300G>A"	""	"VUS"	""
"0000592358"	"3"	"97"	"19"	"18183096"	"18183096"	"subst"	"1.22037E-5"	"00000"	"IL12RB1_000041"	"g.18183096G>A"	""	"{PMID:Schejbel 2011:21812800}"	""	"19602C>T"	""	"Unknown"	""	""	"0"	""	""	"g.18072286G>A"	""	"pathogenic"	""
"0000592359"	"3"	"99"	"19"	"18183096"	"18183096"	"subst"	"1.22037E-5"	"00000"	"IL12RB1_000041"	"g.18183096G>A"	""	"s"	""	"19602C>T"	""	"Germline"	""	""	"0"	""	""	"g.18072286G>A"	""	"pathogenic"	""
"0000592360"	"3"	"99"	"19"	"18183096"	"18183096"	"subst"	"1.22037E-5"	"00000"	"IL12RB1_000041"	"g.18183096G>A"	""	"{PMID:Alinejad Dizaj 2018:29256176}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18072286G>A"	""	"pathogenic"	""
"0000592361"	"0"	"55"	"19"	"18183095"	"18183095"	"subst"	"0.00621878"	"00000"	"IL12RB1_000135"	"g.18183095C>T"	"0.004-0.017"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs117511121"	"0"	""	""	"g.18072285C>T"	""	"VUS"	""
"0000592362"	"3"	"97"	"19"	"18183090"	"18183090"	"subst"	"0"	"00000"	"IL12RB1_000036"	"g.18183090G>A"	""	"{PMID:Lee 2008:17387515}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.18072280G>A"	""	"pathogenic"	""
"0000592363"	"3"	"97"	"19"	"18183090"	"18183090"	"subst"	"0"	"00000"	"IL12RB1_000036"	"g.18183090G>A"	""	"{PMID:Xie 2008:19099833}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18072280G>A"	""	"pathogenic"	""
"0000592364"	"3"	"97"	"19"	"18183083"	"18183083"	"subst"	"0"	"00000"	"IL12RB1_000187"	"g.18183083T>A"	""	"{PMID:Ramirez-Alejo 2013:23952477}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18072273T>A"	""	"pathogenic"	""
"0000592365"	"3"	"97"	"19"	"18183071"	"18183071"	"subst"	"0"	"00000"	"IL12RB1_000184"	"g.18183071C>T"	""	"abstract Franco et al 2012 J Clin Immunol 32 (Suppl 1) 123"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18072261C>T"	""	"pathogenic"	""
"0000592366"	"0"	"55"	"19"	"18183068"	"18183068"	"subst"	"4.87841E-5"	"00000"	"IL12RB1_000136"	"g.18183068G>A"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs149896994"	"0"	""	""	"g.18072258G>A"	""	"VUS"	""
"0000592367"	"0"	"55"	"19"	"18183051"	"18183051"	"subst"	"0"	"00000"	"IL12RB1_000137"	"g.18183051T>C"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs112658457"	"0"	""	""	"g.18072241T>C"	""	"VUS"	""
"0000592368"	"3"	"99"	"19"	"18183030"	"18183030"	"subst"	"0"	"00000"	"IL12RB1_000004"	"g.18183030T>A"	""	"{PMID:Altare 1998:9603732}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18072220T>A"	""	"pathogenic"	""
"0000592369"	"3"	"97"	"19"	"18183030"	"18183030"	"subst"	"0"	"00000"	"IL12RB1_000004"	"g.18183030T>A"	""	"{PMID:Boisson-Dupuis 2011:21533230}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18072220T>A"	""	"pathogenic"	""
"0000592370"	"3"	"77"	"19"	"18183030"	"18183030"	"subst"	"0"	"00000"	"IL12RB1_000004"	"g.18183030T>A"	""	"{PMID: Ailal 2014:25445126}"	""	"K305X"	""	"Germline"	""	""	"0"	""	""	"g.18072220T>A"	""	"likely pathogenic"	""
"0000592371"	"0"	"55"	"19"	"18183020"	"18183020"	"subst"	"0.000105661"	"00000"	"IL12RB1_000138"	"g.18183020T>C"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs192185254"	"0"	""	""	"g.18072210T>C"	""	"VUS"	""
"0000592372"	"0"	"55"	"19"	"18183013"	"18183013"	"subst"	"0.000280513"	"00000"	"IL12RB1_000139"	"g.18183013C>T"	"0.000"	""	""	""	""	"Unknown"	""	"rs144647048"	"0"	""	""	"g.18072203C>T"	""	"VUS"	""
"0000592373"	"0"	"55"	"19"	"18182997"	"18182997"	"subst"	"8.13074E-6"	"00000"	"IL12RB1_000140"	"g.18182997C>T"	"0.000"	""	""	""	"This aminoacid change is damaging according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs34844088"	"0"	""	""	"g.18072187C>T"	""	"VUS"	""
"0000592374"	"0"	"55"	"19"	"18182985"	"18182985"	"subst"	"4.47234E-5"	"00000"	"IL12RB1_000141"	"g.18182985A>G"	"0.000"	""	""	""	"This aminoacid change is damaging according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs141507253"	"0"	""	""	"g.18072175A>G"	""	"VUS"	""
"0000592375"	"3"	"97"	"19"	"18182981"	"18182981"	"subst"	"2.03313E-5"	"00000"	"IL12RB1_000021"	"g.18182981G>T"	""	"{PMID:Fieschi 2003:12591909}"	""	"S321X, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18072171G>T"	""	"pathogenic"	""
"0000592376"	"0"	"55"	"19"	"18182981"	"18182981"	"subst"	"8.13253E-6"	"00000"	"IL12RB1_000142"	"g.18182981G>A"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs147766868"	"0"	""	""	"g.18072171G>A"	""	"VUS"	""
"0000592377"	"0"	"55"	"19"	"18182970"	"18182970"	"subst"	"4.0657E-6"	"00000"	"IL12RB1_000143"	"g.18182970C>T"	"0.000"	""	""	""	"This aminoacid change is damaging according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs144612211"	"0"	""	""	"g.18072160C>T"	""	"VUS"	""
"0000592378"	"1"	"97"	"19"	"18182945"	"18182961"	"del"	"0"	"00000"	"IL12RB1_000050"	"g.18182945_18182961del"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18072135_18072151del"	""	"pathogenic"	""
"0000592379"	"0"	"55"	"19"	"18182950"	"18182950"	"subst"	"8.13451E-6"	"00000"	"IL12RB1_000144"	"g.18182950C>A"	"0.000"	""	""	""	""	"Unknown"	""	"rs142427383"	"0"	""	""	"g.18072140C>A"	""	"VUS"	""
"0000592380"	"0"	"97"	"19"	"18182935"	"18182936"	"delins"	"0"	"00000"	"IL12RB1_000027"	"g.18182935_18182936delinsC"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.18072125_18072126delinsC"	""	"pathogenic"	""
"0000592381"	"0"	"55"	"19"	"18182935"	"18182935"	"subst"	"1.62755E-5"	"00000"	"IL12RB1_000145"	"g.18182935G>A"	""	""	""	""	""	"Unknown"	""	"rs201734902"	"0"	""	""	"g.18072125G>A"	""	"VUS"	""
"0000592382"	"0"	"55"	"19"	"18182932"	"18182932"	"subst"	"0"	"00000"	"IL12RB1_000146"	"g.18182932G>T"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs137983313"	"0"	""	""	"g.18072122G>T"	""	"VUS"	""
"0000592383"	"0"	"55"	"19"	"18182926"	"18182926"	"subst"	"0.000427222"	"00000"	"IL12RB1_000147"	"g.18182926G>C"	"0.002-0.022"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs17884957"	"0"	""	""	"g.18072116G>C"	""	"VUS"	""
"0000592384"	"3"	"97"	"19"	"18182927"	"18182928"	"del"	"0"	"03004"	"IL12RB1_000189"	"g.18182927_18182928del"	""	""	""	"1019_1020delAC"	"The immunological evaluation studies showed absence of IL12RB1 expression after stimulation by flow cytometry."	"Germline"	""	""	"0"	""	""	"g.18072117_18072118del"	""	"pathogenic"	""
"0000592385"	"3"	"97"	"19"	"18182921"	"18182921"	"subst"	"0"	"00000"	"IL12RB1_000029"	"g.18182921C>G"	""	"{PMID:Ozbek 2005:15736007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18072111C>G"	""	"pathogenic"	""
"0000592386"	"0"	"55"	"19"	"18180497"	"18180497"	"subst"	"0.000268456"	"00000"	"IL12RB1_000148"	"g.18180497C>T"	"0.002"	""	""	""	"This aminoacid change is tolerated according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs200811721"	"0"	""	""	"g.18069687C>T"	""	"VUS"	""
"0000592387"	"0"	"55"	"19"	"18180489"	"18180489"	"subst"	"0.00160249"	"00000"	"IL12RB1_000149"	"g.18180489G>A"	"0.009"	""	""	""	""	"Unknown"	""	"rs61734349"	"0"	""	""	"g.18069679G>A"	""	"VUS"	""
"0000592388"	"0"	"55"	"19"	"18180487"	"18180487"	"subst"	"1.22003E-5"	"00000"	"IL12RB1_000150"	"g.18180487C>T"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs111768826"	"0"	""	""	"g.18069677C>T"	""	"VUS"	""
"0000592389"	"3"	"97"	"19"	"18180483"	"18180485"	"del"	"0"	"00000"	"IL12RB1_000040"	"g.18180483_18180485del"	""	"{PMID:Tabarsi 2011:21487897}"	""	"T355del, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18069673_18069675del"	""	"pathogenic"	""
"0000592390"	"3"	"97"	"19"	"18180483"	"18180485"	"del"	"0"	"00000"	"IL12RB1_000040"	"g.18180483_18180485del"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"T355del, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18069673_18069675del"	""	"pathogenic"	""
"0000592391"	"0"	"55"	"19"	"18180464"	"18180464"	"subst"	"8.132E-6"	"00000"	"IL12RB1_000151"	"g.18180464G>C"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs150261140"	"0"	""	""	"g.18069654G>C"	""	"VUS"	""
"0000592392"	"0"	"11"	"19"	"18180451"	"18180451"	"subst"	"0.287276"	"00000"	"IL12RB1_000073"	"g.18180451A>G"	"14-38.3%"	"{PMID: van de Vosse 2005:16293671}"	""	""	""	"Unknown"	""	"rs375947"	"0"	""	""	"g.18069641A>G"	""	"benign"	""
"0000592393"	"0"	"55"	"19"	"18180447"	"18180447"	"subst"	"0.00288759"	"00000"	"IL12RB1_000152"	"g.18180447C>T"	"0.003-0.014"	""	""	""	""	"Unknown"	""	"rs61734350"	"0"	""	""	"g.18069637C>T"	""	"VUS"	""
"0000592394"	"3"	"97"	"19"	"18180445"	"18180445"	"subst"	"1.22005E-5"	"00000"	"IL12RB1_000015"	"g.18180445T>C"	""	"{PMID:Fieschi 2003:12591909}"	""	"Y367C, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18069635T>C"	""	"pathogenic"	""
"0000592395"	"1"	"97"	"19"	"18180439"	"18180439"	"subst"	"4.06739E-6"	"00000"	"IL12RB1_000047"	"g.18180439A>G"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"I369T, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18069629A>G"	""	"pathogenic"	""
"0000592396"	"1"	"97"	"19"	"18180439"	"18180439"	"subst"	"4.06739E-6"	"00000"	"IL12RB1_000047"	"g.18180439A>G"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"I369T, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18069629A>G"	""	"pathogenic"	""
"0000592397"	"3"	"99"	"19"	"18180419"	"18180419"	"subst"	"4.07618E-6"	"01723"	"IL12RB1_000002"	"g.18180419G>A"	""	"{PMID:de Jong 1998:9603733}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18069609G>A"	""	"pathogenic"	""
"0000592398"	"3"	"97"	"19"	"18180419"	"18180419"	"subst"	"4.07618E-6"	"00000"	"IL12RB1_000002"	"g.18180419G>A"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18069609G>A"	""	"pathogenic"	""
"0000592399"	"0"	"55"	"19"	"18180417"	"18180417"	"subst"	"0.000207905"	"00000"	"IL12RB1_000153"	"g.18180417C>T"	""	""	""	""	""	"Unknown"	""	"rs183211050"	"0"	""	""	"g.18069607C>T"	""	"VUS"	""
"0000592400"	"0"	"11"	"19"	"18180413"	"18180413"	"subst"	"0.281972"	"00000"	"IL12RB1_000077"	"g.18180413C>G"	"0.12-0.42"	"{PMID:van de Vosse 2005:16293671}"	""	""	""	"Unknown"	""	"rs401502"	"0"	""	""	"g.18069603C>G"	""	"benign"	""
"0000592401"	"0"	"57"	"19"	"18180413"	"18180413"	"dup"	"0"	"00000"	"IL12RB1_000155"	"g.18180413dup"	""	""	""	""	""	"Unknown"	""	"rs34198485"	"0"	""	""	"g.18069603dup"	""	"VUS"	""
"0000592402"	"0"	"55"	"19"	"18180408"	"18180408"	"subst"	"0"	"00000"	"IL12RB1_000154"	"g.18180408G>A"	"0.000"	""	""	""	""	"Unknown"	""	"rs141203967"	"0"	""	""	"g.18069598G>A"	""	"VUS"	""
"0000592403"	"0"	"55"	"19"	"18180396"	"18180396"	"subst"	"0.00132216"	"00000"	"IL12RB1_000156"	"g.18180396G>A"	"0.015-0.022"	""	""	""	""	"Unknown"	""	"rs17882216"	"0"	""	""	"g.18069586G>A"	""	"VUS"	""
"0000592404"	"0"	"55"	"19"	"18180385"	"18180385"	"subst"	"3.70252E-5"	"00000"	"IL12RB1_000157"	"g.18180385G>A"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs191062711"	"0"	""	""	"g.18069575G>A"	""	"VUS"	""
"0000592405"	"0"	"55"	"19"	"18180384"	"18180384"	"subst"	"3.70715E-5"	"00000"	"IL12RB1_000158"	"g.18180384C>T"	"0.000"	""	""	""	""	"Unknown"	""	"rs144192488"	"0"	""	""	"g.18069574C>T"	""	"VUS"	""
"0000592406"	"0"	"55"	"19"	"18180373"	"18180373"	"subst"	"0.000989378"	"00000"	"IL12RB1_000159"	"g.18180373G>A"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs140254802"	"0"	""	""	"g.18069563G>A"	""	"VUS"	""
"0000592407"	"3"	"99"	"19"	"18180375"	"18180375"	"del"	"0"	"00000"	"IL12RB1_000202"	"g.18180375del"	""	"{PMID:Sarrafzadeh 2016:27141500}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18069565del"	""	"pathogenic"	""
"0000592408"	"0"	"55"	"19"	"18180366"	"18180366"	"subst"	"3.74928E-5"	"00000"	"IL12RB1_000160"	"g.18180366C>T"	"0.000"	""	""	""	""	"Unknown"	""	"rs145095951"	"0"	""	""	"g.18069556C>T"	""	"VUS"	""
"0000592409"	"1"	"97"	"19"	"18180354"	"18180354"	"subst"	"8.47005E-6"	"00000"	"IL12RB1_000051"	"g.18180354A>T"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18069544A>T"	""	"pathogenic"	""
"0000592410"	"3"	"97"	"19"	"18179337"	"18179337"	"subst"	"0"	"00000"	"IL12RB1_000019"	"g.18179337C>T"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18068527C>T"	""	"pathogenic"	""
"0000592411"	"0"	"55"	"19"	"18179318"	"18179318"	"subst"	"5.27975E-5"	"00000"	"IL12RB1_000161"	"g.18179318C>T"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs202048215"	"0"	""	""	"g.18068508C>T"	""	"VUS"	""
"0000592412"	"0"	"55"	"19"	"18179309"	"18179309"	"subst"	"7.31018E-5"	"00000"	"IL12RB1_000162"	"g.18179309C>T"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs199504990"	"0"	""	""	"g.18068499C>T"	""	"VUS"	""
"0000592413"	"3"	"99"	"19"	"18179298"	"18179298"	"subst"	"0"	"00000"	"IL12RB1_000199"	"g.18179298G>A"	""	""	""	"Q410X"	""	"Unknown"	""	""	"0"	""	""	"g.18068488G>A"	""	"pathogenic"	""
"0000592414"	"0"	"55"	"19"	"18179284"	"18179284"	"subst"	"0.00136454"	"00000"	"IL12RB1_000163"	"g.18179284G>A"	"0.000-0.017"	""	""	""	""	"Unknown"	""	"rs376271"	"0"	""	""	"g.18068474G>A"	""	"VUS"	""
"0000592415"	"0"	"55"	"19"	"18179264"	"18179264"	"subst"	"0.000215234"	"00000"	"IL12RB1_000164"	"g.18179264G>A"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs201548803"	"0"	""	""	"g.18068454G>A"	""	"VUS"	""
"0000592416"	"0"	"55"	"19"	"18179254"	"18179254"	"subst"	"8.12301E-6"	"00000"	"IL12RB1_000165"	"g.18179254G>A"	"0.002"	""	""	""	""	"Unknown"	""	"rs199755161"	"0"	""	""	"g.18068444G>A"	""	"VUS"	""
"0000592417"	"0"	"55"	"19"	"18179231"	"18179231"	"subst"	"0.000211291"	"00000"	"IL12RB1_000166"	"g.18179231G>A"	""	""	""	""	"This aminoacid change is damaging according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs200875188"	"0"	""	""	"g.18068421G>A"	""	"VUS"	""
"0000592418"	"0"	"11"	"19"	"18179214"	"18179214"	"subst"	"0.000130356"	"00000"	"IL12RB1_000074"	"g.18179214G>A"	"1/112"	"{PMID: Sakai 2001:11313259} {PMID 16293671: van de Vosse 2005} {dbSNP375654921}"	""	""	""	"Unknown"	""	"rs375654921"	"0"	""	""	"g.18068404G>A"	""	"benign"	""
"0000592419"	"0"	"55"	"19"	"18179200"	"18179200"	"subst"	"4.11252E-6"	"00000"	"IL12RB1_000167"	"g.18179200A>C"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs190491500"	"0"	""	""	"g.18068390A>C"	""	"VUS"	""
"0000592420"	"3"	"97"	"19"	"0"	"0"	""	"0"	"00000"	"IL12RB1_000044"	"g.?"	""	"{PMID:Alangari 2011:21234109}"	""	"1336delC"	"position 1336 is a G not a C therefore exact location of mutation is unclear"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000592421"	"3"	"97"	"19"	"0"	"0"	""	"0"	"00000"	"IL12RB1_000044"	"g.?"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"1336delC"	"position 1336 is a G not a C therefore exact location of mutation is unclear"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000592422"	"0"	"55"	"19"	"18177504"	"18177504"	"subst"	"8.15827E-6"	"00000"	"IL12RB1_000168"	"g.18177504G>A"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs150767749"	"0"	""	""	"g.18066694G>A"	""	"VUS"	""
"0000592423"	"3"	"97"	"19"	"18177465"	"18177465"	"dup"	"0"	"00000"	"IL12RB1_000190"	"g.18177465dup"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18066655dup"	""	"pathogenic"	""
"0000592424"	"3"	"97"	"19"	"18177451"	"18177452"	"del"	"0"	"00000"	"IL12RB1_000061"	"g.18177451_18177452del"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"1386_1387delGT"	""	"Germline"	""	""	"0"	""	""	"g.18066641_18066642del"	""	"pathogenic"	""
"0000592425"	"2"	"97"	"19"	"18177449"	"18177454"	"del"	"0"	"00000"	"IL12RB1_000195"	"g.18177449_18177454del"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.18066639_18066644del"	""	"pathogenic"	""
"0000592426"	"0"	"97"	"19"	"18177437"	"18177437"	"subst"	"1.62512E-5"	"00000"	"IL12RB1_000197"	"g.18177437C>T"	""	"{PMID:Ouederni 2014:24186907}"	""	"W466X"	"1398G>A or: 1397 G>A (unclear from article)"	"Unknown"	""	""	"0"	""	""	"g.18066627C>T"	""	"pathogenic"	""
"0000592427"	"3"	"95"	"19"	"0"	"0"	""	"0"	"00000"	"IL12RB1_000201"	"g.?"	""	""	""	"C474S"	"genomic mutation not specified in article"	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000592428"	"3"	"97"	"19"	"18177412"	"18177412"	"del"	"0"	"00000"	"IL12RB1_000058"	"g.18177412del"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18066602del"	""	"pathogenic"	""
"0000592429"	"0"	"55"	"19"	"18177406"	"18177406"	"subst"	"0.000174699"	"00000"	"IL12RB1_000169"	"g.18177406C>T"	"0.000"	""	""	""	"This aminoacid change is tolerated according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs142884929"	"0"	""	""	"g.18066596C>T"	""	"VUS"	""
"0000592430"	"3"	"97"	"19"	"18177397"	"18177397"	"subst"	"0"	"00000"	"IL12RB1_000055"	"g.18177397C>A"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"E480X, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18066587C>A"	""	"pathogenic"	""
"0000592431"	"0"	"97"	"19"	"0"	"0"	"delins"	"0"	"00000"	"IL12RB1_000025"	"g.?"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000592432"	"0"	"55"	"19"	"18177384"	"18177384"	"subst"	"0.000113792"	"00000"	"IL12RB1_000170"	"g.18177384C>T"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs199661046"	"0"	""	""	"g.18066574C>T"	""	"VUS"	""
"0000592433"	"3"	"97"	"19"	"18177379"	"18177379"	"subst"	"1.6254E-5"	"00000"	"IL12RB1_000037"	"g.18177379G>A"	""	"{PMID:Asilsoy 2009:19379268}"	""	"1520C>T"	""	"Unknown"	""	""	"0"	""	""	"g.18066569G>A"	""	"pathogenic"	""
"0000592434"	"3"	"97"	"19"	"18177379"	"18177379"	"subst"	"1.6254E-5"	"00000"	"IL12RB1_000037"	"g.18177379G>A"	""	"{PMID: Pedraza 2010:20855390}"	""	"R486X, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18066569G>A"	""	"pathogenic"	""
"0000592435"	"0"	"99"	"19"	"18177379"	"18177379"	"subst"	"1.6254E-5"	"00000"	"IL12RB1_000037"	"g.18177379G>A"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.18066569G>A"	""	"pathogenic"	""
"0000592436"	"3"	"99"	"19"	"18177379"	"18177379"	"subst"	"1.6254E-5"	"00000"	"IL12RB1_000037"	"g.18177379G>A"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18066569G>A"	""	"pathogenic"	""
"0000592437"	"3"	"99"	"19"	"18177379"	"18177379"	"subst"	"1.6254E-5"	"00000"	"IL12RB1_000037"	"g.18177379G>A"	""	"{PMID: Akar 2014:24678409}"	""	"published as R486X"	""	"Germline"	""	""	"0"	""	""	"g.18066569G>A"	""	"pathogenic"	""
"0000592438"	"0"	"97"	"19"	"18174160"	"18177170"	"del"	"0"	"00000"	"IL12RB1_000023"	"g.18174160_18177170del"	""	"{PMID:Fieschi 2003:12591909}"	""	"c.1483+182_1619-1073del"	""	"Germline"	""	""	"0"	""	""	"g.18063350_18066360del"	""	"pathogenic"	""
"0000592439"	"3"	"99"	"19"	"18174743"	"18174743"	"subst"	"8.15003E-6"	"01723"	"IL12RB1_000065"	"g.18174743G>C"	""	"{PMID:Potjewijd 2012:22695533}"	""	""	"partial defect"	"Unknown"	""	""	"0"	""	""	"g.18063933G>C"	""	"pathogenic"	""
"0000592440"	"3"	"99"	"19"	"18174743"	"18174743"	"subst"	"1.2225E-5"	"00000"	"IL12RB1_000052"	"g.18174743G>A"	""	""	""	"R521X, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18063933G>A"	""	"pathogenic"	""
"0000592441"	"3"	"99"	"19"	"18174743"	"18174743"	"subst"	"1.2225E-5"	"00000"	"IL12RB1_000052"	"g.18174743G>A"	""	""	""	"R521X, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18063933G>A"	""	"pathogenic"	""
"0000592442"	"0"	"55"	"19"	"18174735"	"18174735"	"subst"	"0"	"00000"	"IL12RB1_000171"	"g.18174735A>C"	"0.000"	""	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Unknown"	""	"rs139619268"	"0"	""	""	""	""	"VUS"	""
"0000592443"	"0"	"11"	"19"	"18174731"	"18174731"	"subst"	"0.0109929"	"00000"	"IL12RB1_000075"	"g.18174731C>T"	"0.4-1.7%"	"{PMID:van de Vosse 2005:16293671}"	""	""	""	"Unknown"	""	"rs11575935"	"0"	""	""	"g.18063921C>T"	""	"benign"	""
"0000592444"	"0"	"55"	"19"	"18174720"	"18174720"	"subst"	"0.0048655"	"00000"	"IL12RB1_000172"	"g.18174720C>T"	"0.002"	""	""	""	""	"Unknown"	""	"rs141968777"	"0"	""	""	"g.18063910C>T"	""	"VUS"	""
"0000592445"	"3"	"97"	"19"	"18174711"	"18174711"	"subst"	"0"	"00000"	"IL12RB1_000060"	"g.18174711C>T"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"W531X, mutation not specified"	"it can also be c.1592G>A in stead of c.1593G>A"	"Germline"	""	""	"0"	""	""	"g.18063901C>T"	""	"pathogenic"	""
"0000592446"	"0"	"55"	"19"	"18174704"	"18174704"	"subst"	"0"	"00000"	"IL12RB1_000173"	"g.18174704G>A"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and probably damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs11575932"	"0"	""	""	"g.18063894G>A"	""	"VUS"	""
"0000592447"	"0"	"97"	"19"	"0"	"0"	""	"0"	"00000"	"IL12RB1_000198"	"g.?"	""	"{PMID:Ouederni 2014:24186907}"	""	"Q541X should be: Q452X?"	"note: no Q at position 541"	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000592448"	"3"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592449"	"0"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592450"	"3"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592451"	"3"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592452"	"3"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:Rosenzweig 2006:16181679}"	""	"GC>TT 1623-1624"	""	"Unknown"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592453"	"0"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:Haerynck 2008:18940359}"	""	"c.1623_1624delGCinsTT"	""	"Unknown"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592454"	"3"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID: Yancoski 2009:19460324}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592455"	"3"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID: Yancoski 2009:19460324}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592456"	"3"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID: Yancoski 2009:19460324}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592457"	"0"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID: Yancoski 2009:19460324}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592458"	"0"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID: Yancoski 2009:19460324}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592459"	"3"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:Gruenberg 2009:19910038}"	""	""	"protein change reported as: Q541X"	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592460"	"2"	"99"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592461"	"3"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592462"	"1"	"97"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592463"	"11"	"99"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:Schepers 2013:24114017}"	""	"1623_1624delGCinsTT"	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592464"	"3"	"99"	"19"	"18173082"	"18173083"	"delins"	"0"	"00000"	"IL12RB1_000016"	"g.18173082_18173083delinsAA"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18062272_18062273delinsAA"	""	"pathogenic"	""
"0000592465"	"3"	"97"	"19"	"18173000"	"18173000"	"subst"	"0"	"00000"	"IL12RB1_000059"	"g.18173000C>T"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	"G569D, mutation not specified"	""	"Germline"	""	""	"0"	""	""	"g.18062190C>T"	""	"pathogenic"	""
"0000592466"	"0"	"55"	"19"	"18172004"	"18172004"	"subst"	"0.00294602"	"00000"	"IL12RB1_000174"	"g.18172004G>A"	"0.000-0.021"	""	""	""	""	"Unknown"	""	"rs17885102"	"0"	""	""	"g.18061194G>A"	""	"VUS"	""
"0000592467"	"0"	"97"	"19"	"18171976"	"18171977"	"dup"	"0"	"00000"	"IL12RB1_000022"	"g.18171976_18171977dup"	""	"{PMID:Fieschi 2003:12591909}"	""	"c.1745_1746insCA"	""	"Germline"	""	""	"0"	""	""	"g.18061166_18061167dup"	""	"pathogenic"	""
"0000592468"	"3"	"99"	"19"	"18171976"	"18171977"	"dup"	"0"	"00000"	"IL12RB1_000022"	"g.18171976_18171977dup"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuisseq"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061166_18061167dup"	""	"pathogenic"	""
"0000592469"	"3"	"97"	"19"	"18171958"	"18171958"	"del"	"0"	"00000"	"IL12RB1_000056"	"g.18171958del"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061148del"	""	"pathogenic"	""
"0000592470"	"0"	"55"	"19"	"18171955"	"18171955"	"subst"	"0.000107667"	"00000"	"IL12RB1_000175"	"g.18171955T>A"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs186935027"	"0"	""	""	"g.18061145T>A"	""	"VUS"	""
"0000592471"	"0"	"55"	"19"	"18171953"	"18171953"	"subst"	"3.43454E-5"	"00000"	"IL12RB1_000176"	"g.18171953A>C"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs201846511"	"0"	""	""	"g.18061143A>C"	""	"VUS"	""
"0000592472"	"0"	"11"	"19"	"18171942"	"18171942"	"subst"	"0.000885412"	"00000"	"IL12RB1_000076"	"g.18171942C>T"	"0.9%"	"{PMID:Sakai 2001:11313259}, {PMID:van de Vosse 2005:16293671}"	""	""	""	"Unknown"	""	"rs370238890"	"0"	""	""	"g.18061132C>T"	""	"benign"	""
"0000592473"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Cleary 2003:12496448}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592474"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Caragol 2003:12856223}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592475"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592476"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592477"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592478"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Fieschi 2003:12591909}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592479"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Lee 2008:17387515}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592480"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID: Pedraza 2010:20855390}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592481"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592482"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592483"	"3"	"99"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592484"	"2"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592485"	"3"	"97"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:de Beaucoudrey 2010:21057261}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592486"	"3"	"99"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Pedraza-Sanchez 2010:20171917}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592487"	"3"	"99"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Pedraza-Sanchez 2010:20171917}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592488"	"21"	"99"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592489"	"3"	"99"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592490"	"3"	"99"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Zahid 2014:25544967}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592491"	"3"	"99"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Sarrafzadeh 2016:27141500}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592492"	"3"	"99"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00000"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Khamassi 2015:26578053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	""
"0000592493"	"0"	"55"	"19"	"18170874"	"18170874"	"subst"	"0.00182921"	"00000"	"IL12RB1_000177"	"g.18170874C>A"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs145590794"	"0"	""	""	"g.18060064C>A"	""	"VUS"	""
"0000592494"	"0"	"55"	"19"	"18170852"	"18170852"	"subst"	"4.13189E-6"	"00000"	"IL12RB1_000178"	"g.18170852G>A"	""	""	""	""	"This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions."	"Unknown"	""	"rs111662740"	"0"	""	""	"g.18060042G>A"	""	"VUS"	""
"0000592495"	"0"	"55"	"19"	"18170808"	"18170808"	"subst"	"0.000841608"	"00000"	"IL12RB1_000179"	"g.18170808C>T"	"0.001-0.002"	""	""	""	"This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs143367415"	"0"	""	""	"g.18059998C>T"	""	"VUS"	""
"0000592496"	"0"	"55"	"19"	"18170773"	"18170773"	"subst"	"0.00149678"	"00000"	"IL12RB1_000180"	"g.18170773A>G"	""	""	""	""	""	"Unknown"	""	"rs199686420"	"0"	""	""	"g.18059963A>G"	""	"VUS"	""
"0000592497"	"0"	"55"	"19"	"18170727"	"18170727"	"subst"	"0.000558139"	"00000"	"IL12RB1_000181"	"g.18170727C>T"	""	""	""	""	"This aminoacid change is damaging according to SIFT, and possibly damaging according to Polyphen-2 predictions."	"Unknown"	""	"rs202106699"	"0"	""	""	"g.18059917C>T"	""	"VUS"	""
"0000592498"	"0"	"55"	"19"	"18170388"	"18170388"	"subst"	"0.00119671"	"00000"	"IL12RB1_000182"	"g.18170388G>A"	""	""	""	""	""	"Unknown"	""	"rs188415514"	"0"	""	""	"g.18059578G>A"	""	"VUS"	""
"0000592499"	"0"	"55"	"19"	"18170384"	"18170384"	"subst"	"0"	"00000"	"IL12RB1_000183"	"g.18170384A>G"	"0.051-0.392"	""	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Unknown"	""	"rs3746190"	"0"	""	""	""	""	"VUS"	""
"0000617462"	"0"	"30"	"19"	"18180373"	"18180373"	"subst"	"0.000989378"	"01943"	"IL12RB1_000159"	"g.18180373G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.1292C>T (p.P431L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.18069563G>A"	""	"likely benign"	""
"0000623959"	"0"	"30"	"19"	"18193019"	"18193019"	"subst"	"0.000553156"	"02326"	"IL12RB1_000096"	"g.18193019G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.300C>T (p.Y100=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.18082209G>A"	""	"likely benign"	""
"0000632019"	"0"	"50"	"19"	"18191750"	"18191750"	"subst"	"1.21875E-5"	"03308"	"IL12RB1_000225"	"g.18191750C>T"	""	""	""	""	""	"Germline"	"?"	"rs748586854"	"0"	""	""	"g.18080940C>T"	""	"VUS"	""
"0000632021"	"0"	"70"	"19"	"18186628"	"18186628"	"subst"	"8.12427E-6"	"03308"	"IL12RB1_000191"	"g.18186628G>A"	""	""	""	""	""	"Germline"	"?"	"rs769520126"	"0"	""	""	"g.18075818G>A"	""	"VUS"	""
"0000649922"	"1"	"10"	"19"	"18183095"	"18183095"	"subst"	"0.00621878"	"03575"	"IL12RB1_000135"	"g.18183095C>T"	"8/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"8 heterozygous, no homozygous; {DB:CLININrs117511121}"	"Germline"	""	"rs117511121"	"0"	""	""	"g.18072285C>T"	""	"benign"	""
"0000649923"	"1"	"50"	"19"	"18186564"	"18186564"	"subst"	"7.3116E-5"	"03575"	"IL12RB1_000123"	"g.18186564G>A"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs147436538}"	"Germline"	""	"rs147436538"	"0"	""	""	"g.18075754G>A"	""	"VUS"	""
"0000658526"	"0"	"50"	"19"	"18174788"	"18174788"	"subst"	"4.06957E-6"	"01943"	"IL12RB1_000226"	"g.18174788T>C"	""	""	""	"IL12RB1(NM_001290024.1):c.1636A>G (p.T546A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.18063978T>C"	""	"VUS"	""
"0000658527"	"0"	"30"	"19"	"18183150"	"18183150"	"subst"	"0"	"02326"	"IL12RB1_000227"	"g.18183150G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.913C>T (p.L305=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.18072340G>A"	""	"likely benign"	""
"0000658528"	"0"	"30"	"19"	"18184375"	"18184375"	"subst"	"0.000191111"	"01943"	"IL12RB1_000127"	"g.18184375C>T"	""	""	""	"IL12RB1(NM_001290024.1):c.855G>A (p.V285=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.18073565C>T"	""	"likely benign"	""
"0000658529"	"0"	"30"	"19"	"18197684"	"18197684"	"subst"	"0.000330281"	"01943"	"IL12RB1_000228"	"g.18197684G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.70C>T (p.R24C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.18086874G>A"	""	"likely benign"	""
"0000681336"	"0"	"30"	"19"	"18173093"	"18173093"	"subst"	"7.84903E-5"	"02326"	"IL12RB1_000229"	"g.18173093G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.1739-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000681337"	"0"	"30"	"19"	"18180373"	"18180373"	"subst"	"0.000989378"	"02326"	"IL12RB1_000159"	"g.18180373G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.1292C>T (p.P431L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000727212"	"0"	"30"	"19"	"18170808"	"18170808"	"subst"	"0.000841608"	"02326"	"IL12RB1_000179"	"g.18170808C>T"	""	""	""	"IL12RB1(NM_005535.1):c.1879G>A (p.E627K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000734176"	"0"	"70"	"19"	"18177451"	"18177451"	"subst"	"0.000215353"	"04011"	"IL12RB1_000230"	"g.18177451C>A"	""	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"VUS"	""
"0000735406"	"0"	"70"	"19"	"18177406"	"18177406"	"subst"	"0.000174699"	"04011"	"IL12RB1_000169"	"g.18177406C>T"	""	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"VUS"	""
"0000735430"	"0"	"70"	"19"	"18177451"	"18177451"	"subst"	"0.000215353"	"04011"	"IL12RB1_000230"	"g.18177451C>A"	""	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"VUS"	""
"0000735496"	"0"	"70"	"19"	"18177451"	"18177451"	"subst"	"0.000215353"	"04011"	"IL12RB1_000230"	"g.18177451C>A"	""	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"VUS"	""
"0000763704"	"0"	"50"	"19"	"18192977"	"18192977"	"subst"	"0.00207202"	"00000"	"IL12RB1_000069"	"g.18192977G>C"	""	"{PMID:Duvvari 2016:27007659}"	""	"222G>C"	""	"Germline"	""	"rs11575925"	"0"	""	""	"g.18082167G>C"	""	"VUS"	""
"0000855488"	"0"	"30"	"19"	"18174753"	"18174753"	"subst"	"4.07077E-5"	"01943"	"IL12RB1_000231"	"g.18174753C>T"	""	""	""	"IL12RB1(NM_001290024.1):c.1671G>A (p.T557=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000855489"	"0"	"90"	"19"	"18194272"	"18194272"	"subst"	"8.12302E-5"	"02327"	"IL12RB1_000001"	"g.18194272G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000865959"	"0"	"50"	"19"	"18186576"	"18186576"	"subst"	"0"	"01943"	"IL12RB1_000232"	"g.18186576G>A"	""	""	""	"IL12RB1(NM_001290024.1):c.803C>T (p.P268L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865960"	"0"	"30"	"19"	"18187099"	"18187101"	"del"	"0"	"02326"	"IL12RB1_000233"	"g.18187099_18187101del"	""	""	""	"IL12RB1(NM_005535.1):c.580+13_580+15delATA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894870"	"0"	"10"	"19"	"18174731"	"18174731"	"subst"	"0.0109929"	"02326"	"IL12RB1_000075"	"g.18174731C>T"	""	""	""	"IL12RB1(NM_005535.1):c.1573G>A (p.A525T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894871"	"0"	"30"	"19"	"18180396"	"18180396"	"subst"	"0.00132216"	"02326"	"IL12RB1_000156"	"g.18180396G>A"	""	""	""	"IL12RB1(NM_005535.1):c.1149C>T (p.C383=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894872"	"0"	"30"	"19"	"18186696"	"18186696"	"subst"	"0.00123193"	"02326"	"IL12RB1_000234"	"g.18186696G>A"	""	""	""	"IL12RB1(NM_005535.1):c.581-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915162"	"0"	"30"	"19"	"18170773"	"18170773"	"subst"	"0.00149678"	"02326"	"IL12RB1_000180"	"g.18170773A>G"	""	""	""	"IL12RB1(NM_005535.1):c.1914T>C (p.P638=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915163"	"0"	"90"	"19"	"18177379"	"18177379"	"subst"	"1.6254E-5"	"02327"	"IL12RB1_000037"	"g.18177379G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000915164"	"0"	"30"	"19"	"18180407"	"18180407"	"subst"	"2.45036E-5"	"02326"	"IL12RB1_000235"	"g.18180407G>T"	""	""	""	"IL12RB1(NM_005535.1):c.1138C>A (p.L380I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915165"	"0"	"10"	"19"	"18193060"	"18193060"	"subst"	"0.00328233"	"02326"	"IL12RB1_000091"	"g.18193060G>A"	""	""	""	"IL12RB1(NM_005535.1):c.139C>T (p.P47S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000915166"	"0"	"30"	"19"	"18193068"	"18193068"	"subst"	"0.000150101"	"02326"	"IL12RB1_000236"	"g.18193068G>A"	""	""	""	"IL12RB1(NM_005535.1):c.131C>T (p.A44V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000920266"	"3"	"90"	"19"	"18171930"	"18171930"	"subst"	"0.000104206"	"00006"	"IL12RB1_000013"	"g.18171930A>C"	""	"{PMID:Stray-Pedersen 2017:27577878}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.18061120A>C"	""	"pathogenic"	"ACMG"
"0000926842"	"0"	"30"	"19"	"18170874"	"18170874"	"subst"	"0.00182921"	"02326"	"IL12RB1_000177"	"g.18170874C>A"	""	""	""	"IL12RB1(NM_005535.1):c.1813G>T (p.V605L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926843"	"0"	"30"	"19"	"18171937"	"18171937"	"subst"	"0.00091646"	"02326"	"IL12RB1_000237"	"g.18171937T>C"	""	""	""	"IL12RB1(NM_005535.1):c.1786A>G (p.K596E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926844"	"0"	"30"	"19"	"18191766"	"18191766"	"subst"	"4.06418E-6"	"02326"	"IL12RB1_000238"	"g.18191766G>A"	""	""	""	"IL12RB1(NM_005535.1):c.285C>T (p.T95=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926845"	"0"	"30"	"19"	"18192977"	"18192977"	"subst"	"0.00207202"	"02326"	"IL12RB1_000069"	"g.18192977G>C"	""	""	""	"IL12RB1(NM_005535.1):c.222C>G (p.S74R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926846"	"0"	"30"	"19"	"18193070"	"18193070"	"subst"	"0.000890014"	"02326"	"IL12RB1_000239"	"g.18193070C>T"	""	""	""	"IL12RB1(NM_005535.1):c.129G>A (p.S43=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001015767"	"0"	"10"	"19"	"18174731"	"18174731"	"subst"	"0.0109929"	"02327"	"IL12RB1_000075"	"g.18174731C>T"	""	""	""	"IL12RB1(NM_005535.1):c.1573G>A (p.A525T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001042795"	"0"	"50"	"19"	"18182032"	"18182032"	"dup"	"0"	"01804"	"IL12RB1_000240"	"g.18182032dup"	""	""	""	"IL12RB1(NM_153701.3):c.1136dup (p.(Leu379Phefs*69))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001056575"	"0"	"50"	"19"	"18170723"	"18170723"	"subst"	"0"	"01804"	"IL12RB1_000241"	"g.18170723C>T"	""	""	""	"IL12RB1(NM_005535.3):c.1964G>A (p.(Gly655Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001056576"	"0"	"90"	"19"	"18173082"	"18173082"	"subst"	"0.000102226"	"02327"	"IL12RB1_000242"	"g.18173082G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001067150"	"0"	"50"	"19"	"18208606"	"18208606"	"subst"	"0"	"02325"	"IL12RB1_000243"	"g.18208606G>A"	""	""	""	""	"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 IL12RB1
## Count = 380
"{{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}}"
"0000255102"	"00009952"	"30"	"1887"	"0"	"1887"	"0"	"c.1887T>C"	"r.(?)"	"p.(Thr629=)"	""
"0000281510"	"00009952"	"10"	"-2"	"0"	"-2"	"0"	"c.-2C>T"	"r.(?)"	"p.(=)"	""
"0000281511"	"00009952"	"10"	"1132"	"0"	"1132"	"0"	"c.1132G>C"	"r.(?)"	"p.(Gly378Arg)"	""
"0000281512"	"00009952"	"10"	"467"	"0"	"467"	"0"	"c.467G>A"	"r.(?)"	"p.(Arg156His)"	""
"0000281513"	"00009952"	"10"	"641"	"0"	"641"	"0"	"c.641A>G"	"r.(?)"	"p.(Gln214Arg)"	""
"0000281514"	"00009952"	"10"	"684"	"0"	"684"	"0"	"c.684C>T"	"r.(?)"	"p.(Pro228=)"	""
"0000285230"	"00009952"	"30"	"1344"	"0"	"1344"	"0"	"c.1344A>C"	"r.(?)"	"p.(Thr448=)"	""
"0000285231"	"00009952"	"30"	"1719"	"0"	"1719"	"0"	"c.1719C>T"	"r.(?)"	"p.(Ala573=)"	""
"0000285232"	"00009952"	"30"	"467"	"0"	"467"	"0"	"c.467G>A"	"r.(?)"	"p.(Arg156His)"	""
"0000285233"	"00009952"	"30"	"641"	"0"	"641"	"0"	"c.641A>G"	"r.(?)"	"p.(Gln214Arg)"	""
"0000285234"	"00009952"	"30"	"783"	"10"	"783"	"10"	"c.783+10C>T"	"r.(=)"	"p.(=)"	""
"0000285235"	"00009952"	"10"	"848"	"0"	"848"	"0"	"c.848G>A"	"r.(?)"	"p.(Arg283Gln)"	""
"0000289567"	"00009952"	"50"	"1132"	"0"	"1132"	"0"	"c.1132G>T"	"r.(?)"	"p.(Gly378Trp)"	""
"0000289568"	"00009952"	"30"	"1813"	"0"	"1813"	"0"	"c.1813G>T"	"r.(?)"	"p.(Val605Leu)"	""
"0000289569"	"00009952"	"30"	"1719"	"0"	"1719"	"0"	"c.1719C>T"	"r.(?)"	"p.(Ala573=)"	""
"0000289570"	"00009952"	"50"	"1879"	"0"	"1879"	"0"	"c.1879G>A"	"r.(?)"	"p.(Glu627Lys)"	""
"0000289571"	"00009952"	"30"	"273"	"0"	"273"	"0"	"c.273C>T"	"r.(?)"	"p.(Ala91=)"	""
"0000289572"	"00009952"	"10"	"783"	"10"	"783"	"10"	"c.783+10C>T"	"r.(=)"	"p.(=)"	""
"0000337393"	"00009952"	"90"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.spl?"	"p.?"	""
"0000339575"	"00009952"	"10"	"684"	"0"	"684"	"0"	"c.684C>T"	"r.(?)"	"p.(Pro228=)"	""
"0000341994"	"00009952"	"10"	"467"	"0"	"467"	"0"	"c.467G>A"	"r.(?)"	"p.(Arg156His)"	""
"0000342425"	"00009952"	"90"	"634"	"0"	"634"	"0"	"c.634C>T"	"r.(?)"	"p.(Arg212Ter)"	""
"0000344662"	"00009952"	"10"	"641"	"0"	"641"	"0"	"c.641A>G"	"r.(?)"	"p.(Gln214Arg)"	""
"0000566605"	"00009952"	"10"	"1584"	"0"	"1584"	"0"	"c.1584G>A"	"r.(?)"	"p.(Arg528=)"	""
"0000566606"	"00009952"	"30"	"1359"	"0"	"1359"	"0"	"c.1359G>A"	"r.(?)"	"p.(Ser453=)"	""
"0000566607"	"00009952"	"30"	"1098"	"0"	"1098"	"0"	"c.1098G>A"	"r.(?)"	"p.(Thr366=)"	""
"0000566608"	"00009952"	"30"	"1098"	"0"	"1098"	"0"	"c.1098G>A"	"r.(?)"	"p.(Thr366=)"	""
"0000566609"	"00009952"	"10"	"1094"	"0"	"1094"	"0"	"c.1094T>C"	"r.(?)"	"p.(Met365Thr)"	""
"0000566610"	"00009952"	"30"	"1056"	"0"	"1056"	"0"	"c.1056C>T"	"r.(?)"	"p.(Asn352=)"	""
"0000566611"	"00009952"	"30"	"945"	"0"	"945"	"0"	"c.945C>T"	"r.(?)"	"p.(Asn315=)"	""
"0000592190"	"00009952"	"55"	"-32"	"0"	"-32"	"0"	"c.-32C>T"	"r.(?)"	"p.(=)"	"1"
"0000592191"	"00009952"	"55"	"-2"	"0"	"-2"	"0"	"c.-2C>T"	"r.(?)"	"p.(=)"	"1"
"0000592192"	"00009952"	"55"	"8"	"0"	"8"	"0"	"c.8C>A"	"r.(?)"	"p.(Pro3Gln)"	"1"
"0000592193"	"00009952"	"57"	"21"	"0"	"21"	"0"	"c.21G>A"	"r.(?)"	"p.(Trp7*)"	"1"
"0000592194"	"00009952"	"77"	"21"	"0"	"21"	"0"	"c.21G>A"	"r.(?)"	"p.(Trp7*)"	"1"
"0000592195"	"00009952"	"95"	"21"	"0"	"21"	"0"	"c.21G>A"	"r.(?)"	"p.(Trp7*)"	"1"
"0000592196"	"00009952"	"77"	"21"	"0"	"21"	"0"	"c.21G>A"	"r.(?)"	"p.(Trp7*)"	"1"
"0000592197"	"00009952"	"97"	"64"	"1"	"64"	"1"	"c.64+1G>T"	"r.spl?"	"p.?"	"1i"
"0000592198"	"00009952"	"97"	"64"	"2"	"64"	"2"	"c.64+2T>G"	"r.spl?"	"p.?"	"1i"
"0000592199"	"00009952"	"97"	"64"	"2"	"64"	"2"	"c.64+2T>G"	"r.spl?"	"p.?"	"1i"
"0000592200"	"00009952"	"97"	"64"	"2"	"64"	"2"	"c.64+2T>G"	"r.spl?"	"p.?"	"1i"
"0000592201"	"00009952"	"99"	"64"	"2"	"64"	"2"	"c.64+2T>G"	"r.spl?"	"p.?"	"1i"
"0000592202"	"00009952"	"99"	"64"	"2"	"64"	"2"	"c.64+2T>G"	"r.spl?"	"p.?"	"1i"
"0000592203"	"00009952"	"99"	"64"	"2"	"64"	"2"	"c.64+2T>G"	"r.spl?"	"p.?"	"1i"
"0000592204"	"00009952"	"99"	"64"	"2"	"64"	"2"	"c.64+2T>G"	"r.spl?"	"p.?"	"1i"
"0000592205"	"00009952"	"99"	"64"	"2"	"64"	"2"	"c.64+2T>G"	"r.spl?"	"p.?"	"1i"
"0000592206"	"00009952"	"99"	"64"	"2"	"64"	"2"	"c.64+2T>G"	"r.spl?"	"p.?"	"1i"
"0000592207"	"00009952"	"99"	"64"	"2"	"64"	"2"	"c.64+2T>G"	"r.spl?"	"p.?"	"1i"
"0000592208"	"00009952"	"97"	"64"	"5"	"64"	"5"	"c.64+5G>A"	"r.spl?"	"p.?"	"1i"
"0000592209"	"00009952"	"97"	"69"	"0"	"72"	"0"	"c.69_72del"	"r.(?)"	"p.(Cys24Glufs*26)"	"2"
"0000592210"	"00009952"	"55"	"74"	"0"	"74"	"0"	"c.74G>A"	"r.(?)"	"p.(Arg25Lys)"	"2"
"0000592211"	"00009952"	"99"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Gln32*)"	"2"
"0000592212"	"00009952"	"97"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Gln32*)"	"2"
"0000592213"	"00009952"	"97"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Gln32*)"	"2"
"0000592214"	"00009952"	"97"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Gln32*)"	"2"
"0000592215"	"00009952"	"99"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Gln32*)"	"2"
"0000592216"	"00009952"	"55"	"99"	"0"	"99"	"0"	"c.99C>T"	"r.(?)"	"p.(=)"	"2"
"0000592217"	"00009952"	"55"	"100"	"0"	"100"	"0"	"c.100C>T"	"r.(?)"	"p.(Pro34Ser)"	"2"
"0000592218"	"00009952"	"55"	"101"	"0"	"101"	"0"	"c.101C>T"	"r.(?)"	"p.(Pro34Leu)"	"2"
"0000592219"	"00009952"	"55"	"102"	"0"	"102"	"0"	"c.102G>A"	"r.(?)"	"p.(=)"	"2"
"0000592220"	"00009952"	"55"	"105"	"0"	"105"	"0"	"c.105A>G"	"r.(?)"	"p.(=)"	"2"
"0000592221"	"00009952"	"55"	"110"	"0"	"110"	"0"	"c.110C>T"	"r.(?)"	"p.(Pro37Leu)"	"2"
"0000592222"	"00009952"	"55"	"128"	"0"	"128"	"0"	"c.128C>T"	"r.(?)"	"p.(Ser43Leu)"	"3"
"0000592223"	"00009952"	"55"	"134"	"0"	"134"	"0"	"c.134C>T"	"r.(?)"	"p.(Ser45Leu)"	"3"
"0000592224"	"00009952"	"55"	"138"	"0"	"138"	"0"	"c.138C>T"	"r.(?)"	"p.(=)"	"3"
"0000592225"	"00009952"	"55"	"139"	"0"	"139"	"0"	"c.139C>T"	"r.(?)"	"p.(Pro47Ser)"	"3"
"0000592226"	"00009952"	"55"	"152"	"0"	"152"	"0"	"c.152G>C"	"r.(?)"	"p.(Arg51Thr)"	"3"
"0000592227"	"00009952"	"57"	"153"	"0"	"154"	"0"	"c.153_154insC"	"r.(?)"	"p.(Cys52Leufs*7)"	"3"
"0000592228"	"00009952"	"99"	"169"	"0"	"169"	"0"	"c.169del"	"r.(?)"	"p.(Ser57Valfs*73)"	"3"
"0000592229"	"00009952"	"99"	"169"	"0"	"169"	"0"	"c.169del"	"r.(?)"	"p.(Ser57Valfs*73)"	"3"
"0000592230"	"00009952"	"55"	"176"	"0"	"176"	"0"	"c.176G>A"	"r.(?)"	"p.(Arg59His)"	"3"
"0000592231"	"00009952"	"55"	"179"	"0"	"179"	"0"	"c.179A>G"	"r.(?)"	"p.(Tyr60Cys)"	"3"
"0000592232"	"00009952"	"55"	"180"	"0"	"180"	"0"	"c.180C>T"	"r.(?)"	"p.(=)"	"3"
"0000592233"	"00009952"	"55"	"181"	"0"	"181"	"0"	"c.181G>A"	"r.(?)"	"p.(Glu61Lys)"	"3"
"0000592234"	"00009952"	"97"	"182"	"0"	"182"	"0"	"c.182A>G"	"r.(?)"	"p.(Glu61Gly)"	"3"
"0000592235"	"00009952"	"97"	"184"	"0"	"184"	"0"	"c.184T>G"	"r.(?)"	"p.(Cys62Gly)"	"3"
"0000592236"	"00009952"	"99"	"191"	"0"	"191"	"0"	"c.191G>A"	"r.(?)"	"p.(Trp64*)"	"3"
"0000592237"	"00009952"	"11"	"222"	"0"	"222"	"0"	"c.222C>G"	"r.(?)"	"p.(Ser74Arg)"	"3"
"0000592238"	"00009952"	"97"	"230"	"0"	"230"	"0"	"c.230T>C"	"r.(?)"	"p.(Leu77Pro)"	"3"
"0000592239"	"00009952"	"55"	"253"	"0"	"253"	"0"	"c.253C>T"	"r.(?)"	"p.(Arg85Cys)"	"4"
"0000592240"	"00009952"	"99"	"264"	"0"	"264"	"0"	"c.264C>G"	"r.(?)"	"p.(Tyr88*)"	"4"
"0000592241"	"00009952"	"99"	"264"	"0"	"264"	"0"	"c.264C>G"	"r.(?)"	"p.(Tyr88*)"	"4"
"0000592242"	"00009952"	"99"	"264"	"0"	"264"	"0"	"c.264C>G"	"r.(?)"	"p.(Tyr88*)"	"4"
"0000592243"	"00009952"	"99"	"264"	"0"	"264"	"0"	"c.264C>G"	"r.(?)"	"p.(Tyr88*)"	"4"
"0000592244"	"00009952"	"99"	"264"	"0"	"264"	"0"	"c.264C>G"	"r.(?)"	"p.(Tyr88*)"	"4"
"0000592245"	"00009952"	"55"	"268"	"0"	"268"	"0"	"c.268G>A"	"r.(?)"	"p.(Ala90Thr)"	"4"
"0000592246"	"00009952"	"55"	"270"	"0"	"270"	"0"	"c.270C>T"	"r.(?)"	"p.(=)"	"4"
"0000592247"	"00009952"	"33"	"271"	"0"	"271"	"0"	"c.271G>A"	"r.(?)"	"p.(Ala91Thr)"	"4"
"0000592249"	"00009952"	"55"	"273"	"0"	"273"	"0"	"c.273C>T"	"r.(?)"	"p.(=)"	"4"
"0000592250"	"00009952"	"55"	"279"	"0"	"279"	"0"	"c.279A>G"	"r.(?)"	"p.(=)"	"4"
"0000592251"	"00009952"	"57"	"288"	"0"	"288"	"0"	"c.288del"	"r.(?)"	"p.(Arg96Serfs*34)"	"4"
"0000592252"	"00009952"	"55"	"300"	"0"	"300"	"0"	"c.300C>T"	"r.(?)"	"p.(=)"	"4"
"0000592253"	"00009952"	"55"	"320"	"0"	"320"	"0"	"c.320T>C"	"r.(?)"	"p.(Val107Ala)"	"4"
"0000592254"	"00009952"	"97"	"350"	"0"	"350"	"0"	"c.350C>A"	"r.(?)"	"p.(Ser117Tyr)"	"4"
"0000592255"	"00009952"	"55"	"387"	"0"	"387"	"0"	"c.387G>C"	"r.(?)"	"p.(=)"	"4"
"0000592256"	"00009952"	"55"	"390"	"0"	"390"	"0"	"c.390C>T"	"r.(?)"	"p.(=)"	"4"
"0000592257"	"00009952"	"97"	"402"	"0"	"402"	"0"	"c.402C>A"	"r.(?)"	"p.(Tyr134*)"	"4"
"0000592258"	"00009952"	"11"	"467"	"0"	"467"	"0"	"c.467G>A"	"r.(?)"	"p.(Arg156His)"	"5"
"0000592259"	"00009952"	"97"	"467"	"0"	"483"	"0"	"c.467_483del"	"r.410_549del"	"p.(Val137Glyfs*8)"	"5"
"0000592260"	"00009952"	"97"	"512"	"0"	"512"	"0"	"c.512A>C"	"r.(?)"	"p.(Gln171Pro)"	"5"
"0000592261"	"00009952"	"97"	"512"	"0"	"512"	"0"	"c.512A>C"	"r.(?)"	"p.(Gln171Pro)"	"5"
"0000592262"	"00009952"	"99"	"512"	"0"	"512"	"0"	"c.512A>C"	"r.(?)"	"p.(Gln171Pro)"	"5"
"0000592263"	"00009952"	"97"	"517"	"0"	"517"	"0"	"c.517C>T"	"r.(?)"	"p.(Arg173Trp)"	"5"
"0000592264"	"00009952"	"97"	"517"	"0"	"517"	"0"	"c.517C>T"	"r.(?)"	"p.(Arg173Trp)"	"5"
"0000592265"	"00009952"	"99"	"517"	"0"	"517"	"0"	"c.517C>T"	"r.(?)"	"p.(Arg173Trp)"	"5"
"0000592266"	"00009952"	"99"	"517"	"0"	"517"	"0"	"c.517C>T"	"r.(?)"	"p.(Arg173Trp)"	"5"
"0000592267"	"00009952"	"99"	"517"	"0"	"517"	"0"	"c.517C>T"	"r.(?)"	"p.(Arg173Trp)"	"5"
"0000592268"	"00009952"	"97"	"518"	"0"	"518"	"0"	"c.518G>C"	"r.(?)"	"p.(Arg173Pro)"	"5"
"0000592269"	"00009952"	"97"	"518"	"0"	"518"	"0"	"c.518G>C"	"r.(?)"	"p.(Arg173Pro)"	"5"
"0000592270"	"00009952"	"99"	"518"	"0"	"518"	"0"	"c.518G>C"	"r.(?)"	"p.(Arg173Pro)"	"5"
"0000592271"	"00009952"	"97"	"518"	"0"	"518"	"0"	"c.518G>C"	"r.(?)"	"p.(Arg173Pro)"	"5"
"0000592272"	"00009952"	"99"	"518"	"0"	"518"	"0"	"c.518G>C"	"r.(?)"	"p.(Arg173Pro)"	"5"
"0000592273"	"00009952"	"99"	"518"	"0"	"518"	"0"	"c.518G>C"	"r.518G>C"	"p.Arg173Pro"	"5"
"0000592274"	"00009952"	"97"	"523"	"0"	"523"	"0"	"c.523C>T"	"r.(?)"	"p.(Arg175Trp)"	"5"
"0000592275"	"00009952"	"97"	"523"	"0"	"523"	"0"	"c.523C>T"	"r.(?)"	"p.(Arg175Trp)"	"5"
"0000592276"	"00009952"	"99"	"523"	"0"	"523"	"0"	"c.523C>T"	"r.(?)"	"p.(Arg175Trp)"	"5"
"0000592277"	"00009952"	"99"	"523"	"0"	"523"	"0"	"c.523C>T"	"r.(?)"	"p.(Arg175Trp)"	"5"
"0000592278"	"00009952"	"99"	"523"	"0"	"523"	"0"	"c.523C>T"	"r.(?)"	"p.(Arg175Trp)"	"5"
"0000592279"	"00009952"	"99"	"523"	"0"	"523"	"0"	"c.523C>T"	"r.(?)"	"p.(Arg175Trp)"	"5"
"0000592280"	"00009952"	"55"	"548"	"0"	"548"	"0"	"c.548T>C"	"r.(?)"	"p.(Leu183Ser)"	"5"
"0000592281"	"00009952"	"97"	"549"	"2"	"549"	"2"	"c.549+2T>C"	"r.spl?"	"p.(fs*)"	"5i"
"0000592282"	"00009952"	"97"	"550"	"-2"	"550"	"-2"	"c.550-2A>G"	"r.spl?"	"p.?"	"5i"
"0000592283"	"00009952"	"55"	"552"	"0"	"552"	"0"	"c.552C>T"	"r.(?)"	"p.(=)"	"6"
"0000592284"	"00009952"	"97"	"556"	"0"	"556"	"0"	"c.556T>A"	"r.(?)"	"p.(Cys186Ser)"	"6"
"0000592285"	"00009952"	"97"	"556"	"0"	"556"	"0"	"c.556T>A"	"r.(?)"	"p.(Cys186Ser)"	"6"
"0000592286"	"00009952"	"97"	"556"	"0"	"556"	"0"	"c.556T>A"	"r.(?)"	"p.(Cys186Ser)"	"6"
"0000592287"	"00009952"	"99"	"556"	"0"	"556"	"0"	"c.556T>A"	"r.(?)"	"p.(Cys186Ser)"	"6"
"0000592288"	"00009952"	"99"	"556"	"0"	"556"	"0"	"c.556T>A"	"r.(?)"	"p.(Cys186Ser)"	"6"
"0000592289"	"00009952"	"97"	"557"	"0"	"557"	"0"	"c.557G>A"	"r.(?)"	"p.(Cys186Tyr)"	"6"
"0000592290"	"00009952"	"99"	"557"	"0"	"557"	"0"	"c.557G>A"	"r.(?)"	"p.(Cys186Tyr)"	"6"
"0000592291"	"00009952"	"99"	"557"	"0"	"557"	"0"	"c.557G>A"	"r.(?)"	"p.(Cys186Tyr)"	"6"
"0000592292"	"00009952"	"99"	"557"	"0"	"563"	"0"	"c.557_563delinsAGATATCA"	"r.(?)"	"p.(splicing)"	"6"
"0000592293"	"00009952"	"99"	"557"	"0"	"563"	"0"	"c.557_563delinsAGATATCA"	"r.(?)"	"p.(splicing)"	"6"
"0000592294"	"00009952"	"99"	"558"	"0"	"558"	"0"	"c.558C>A"	"r.(?)"	"p.(Cys186*)"	"6"
"0000592295"	"00009952"	"55"	"561"	"0"	"561"	"0"	"c.561A>T"	"r.(?)"	"p.(=)"	"6"
"0000592296"	"00009952"	"97"	"580"	"1"	"580"	"1"	"c.580+1G>A"	"r.spl?"	"p.?"	"6i"
"0000592297"	"00009952"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.700_701insTTGGTTTGGTTCTGATTGCAG"	"p.(Pro233_Glu234insVGLVLIA)"	"7i-7"
"0000592298"	"00009952"	"99"	"592"	"0"	"592"	"0"	"c.592T>C"	"r.(?)"	"p.(Cys198Arg)"	"7"
"0000592299"	"00009952"	"99"	"592"	"0"	"592"	"0"	"c.592T>C"	"r.(?)"	"p.(Cys198Arg)"	"7"
"0000592300"	"00009952"	"99"	"592"	"0"	"592"	"0"	"c.592T>C"	"r.(?)"	"p.(Cys198Arg)"	"7"
"0000592301"	"00009952"	"99"	"592"	"0"	"592"	"0"	"c.592T>C"	"r.(?)"	"p.(Cys198Arg)"	"7"
"0000592302"	"00009952"	"55"	"596"	"0"	"596"	"0"	"c.596C>G"	"r.(?)"	"p.(Pro199Arg)"	"7"
"0000592303"	"00009952"	"55"	"597"	"0"	"597"	"0"	"c.597C>A"	"r.(?)"	"p.(=)"	"7"
"0000592304"	"00009952"	"97"	"601"	"0"	"601"	"0"	"c.601G>C"	"r.(?)"	"p.(Glu201Gln)"	"7"
"0000592305"	"00009952"	"55"	"602"	"0"	"602"	"0"	"c.602A>C"	"r.(?)"	"p.(Glu201Ala)"	"7"
"0000592306"	"00009952"	"55"	"605"	"0"	"605"	"0"	"c.605T>G"	"r.(?)"	"p.(Met202Arg)"	"7"
"0000592307"	"00009952"	"55"	"612"	"0"	"612"	"0"	"c.612G>A"	"r.(?)"	"p.(=)"	"7"
"0000592308"	"00009952"	"97"	"625"	"0"	"625"	"0"	"c.625C>T"	"r.(?)"	"p.(Gln209*)"	"7"
"0000592309"	"00009952"	"99"	"625"	"0"	"625"	"0"	"c.625C>T"	"r.(?)"	"p.(Gln209*)"	"7"
"0000592310"	"00009952"	"97"	"628"	"0"	"644"	"0"	"c.628_644dup"	"r.(?)"	"p.(Gly216Serfs*32)"	"7"
"0000592311"	"00009952"	"99"	"628"	"0"	"644"	"0"	"c.628_644dup"	"r.(?)"	"p.(Gly216Serfs*32)"	"7"
"0000592312"	"00009952"	"99"	"631"	"0"	"631"	"0"	"c.631C>T"	"r.(?)"	"p.(Arg211*)"	"7"
"0000592313"	"00009952"	"97"	"632"	"0"	"632"	"0"	"c.632G>C"	"r.(?)"	"p.(Arg211Pro)"	"7"
"0000592314"	"00009952"	"97"	"632"	"0"	"632"	"0"	"c.632G>C"	"r.(?)"	"p.(Arg211Pro)"	"7"
"0000592315"	"00009952"	"57"	"633"	"0"	"633"	"0"	"c.633del"	"r.(?)"	"p.(Arg212Aspfs*30)"	"7"
"0000592316"	"00009952"	"97"	"637"	"0"	"637"	"0"	"c.637C>T"	"r.(?)"	"p.(Arg213Trp)"	"7"
"0000592317"	"00009952"	"97"	"637"	"0"	"637"	"0"	"c.637C>T"	"r.(?)"	"p.(Arg213Trp)"	"7"
"0000592318"	"00009952"	"99"	"637"	"0"	"637"	"0"	"c.637C>T"	"r.(?)"	"p.(Arg213Trp)"	"7"
"0000592319"	"00009952"	"11"	"641"	"0"	"641"	"0"	"c.641A>G"	"r.(?)"	"p.(Gln214Arg)"	"7"
"0000592320"	"00009952"	"55"	"653"	"0"	"653"	"0"	"c.653A>C"	"r.(?)"	"p.(Gln218Pro)"	"7"
"0000592321"	"00009952"	"97"	"658"	"0"	"658"	"0"	"c.658A>T"	"r.(?)"	"p.(Ser220Cys)"	"7"
"0000592322"	"00009952"	"33"	"684"	"0"	"684"	"0"	"c.684C>T"	"r.(?)"	"p.(=)"	"7"
"0000592323"	"00009952"	"55"	"687"	"0"	"687"	"0"	"c.687G>T"	"r.(?)"	"p.(=)"	"7"
"0000592324"	"00009952"	"55"	"691"	"0"	"691"	"0"	"c.691G>A"	"r.(?)"	"p.(Val231Ile)"	"7"
"0000592325"	"00009952"	"55"	"694"	"0"	"694"	"0"	"c.694C>T"	"r.(?)"	"p.(Pro232Ser)"	"7"
"0000592326"	"00009952"	"55"	"695"	"0"	"695"	"0"	"c.695C>T"	"r.(?)"	"p.(Pro232Leu)"	"7"
"0000592327"	"00009952"	"97"	"700"	"362"	"1619"	"-944"	"c.700+362_1619-944del"	"r.?"	"p.(Asn235_Glu540del)"	"7i-13i"
"0000592328"	"00009952"	"99"	"700"	"362"	"1619"	"-944"	"c.700+362_1619-944del"	"r.?"	"p.(Asn235_Glu540del)"	"7i-13i"
"0000592329"	"00009952"	"97"	"700"	"362"	"1619"	"-944"	"c.700+362_1619-944del"	"r.?"	"p.(Asn235_Glu540del)"	"7i-13i"
"0000592330"	"00009952"	"97"	"710"	"0"	"710"	"0"	"c.710del"	"r.(?)"	"p.(Pro237Hisfs*5)"	"8"
"0000592331"	"00009952"	"97"	"710"	"0"	"710"	"0"	"c.710dup"	"r.(?)"	"p.(Gln238Thrfs*57)"	"8"
"0000592332"	"00009952"	"55"	"712"	"0"	"712"	"0"	"c.712C>G"	"r.(?)"	"p.(Gln238Glu)"	"8"
"0000592333"	"00009952"	"55"	"731"	"0"	"731"	"0"	"c.731C>T"	"r.(?)"	"p.(Ser244Leu)"	"8"
"0000592334"	"00009952"	"55"	"732"	"0"	"732"	"0"	"c.732G>T"	"r.(?)"	"p.(=)"	"8"
"0000592335"	"00009952"	"55"	"735"	"0"	"735"	"0"	"c.735G>A"	"r.(?)"	"p.(=)"	"8"
"0000592336"	"00009952"	"55"	"753"	"0"	"753"	"0"	"c.753T>C"	"r.(?)"	"p.(=)"	"8"
"0000592337"	"00009952"	"55"	"772"	"0"	"772"	"0"	"c.772C>G"	"r.(?)"	"p.(Leu258Val)"	"8"
"0000592338"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592339"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592340"	"00009952"	"97"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.(?)"	"8i"
"0000592341"	"00009952"	"97"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592342"	"00009952"	"97"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592343"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592344"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592345"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.(fs*)"	"8i"
"0000592346"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592347"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592348"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592349"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592350"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.(?)"	"8i"
"0000592351"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>A"	"r.spl?"	"p.?"	"8i"
"0000592352"	"00009952"	"99"	"783"	"1"	"783"	"1"	"c.783+1G>C"	"r.spl?"	"p.(?)"	"8i"
"0000592353"	"00009952"	"55"	"800"	"0"	"800"	"0"	"c.800T>C"	"r.(?)"	"p.(Leu267Pro)"	"9"
"0000592354"	"00009952"	"55"	"821"	"0"	"821"	"0"	"c.821T>A"	"r.(?)"	"p.(Leu274Gln)"	"9"
"0000592355"	"00009952"	"55"	"824"	"0"	"824"	"0"	"c.824C>T"	"r.(?)"	"p.(Ala275Val)"	"9"
"0000592356"	"00009952"	"55"	"825"	"0"	"825"	"0"	"c.825G>A"	"r.(?)"	"p.(=)"	"9"
"0000592357"	"00009952"	"55"	"833"	"0"	"833"	"0"	"c.833C>T"	"r.(?)"	"p.(Thr278Met)"	"9"
"0000592358"	"00009952"	"97"	"847"	"0"	"847"	"0"	"c.847C>T"	"r.847C>T"	"p.Arg283*"	"9"
"0000592359"	"00009952"	"99"	"847"	"0"	"847"	"0"	"c.847C>T"	"r.847C>T"	"p.Arg283*"	"9"
"0000592360"	"00009952"	"99"	"847"	"0"	"847"	"0"	"c.847C>T"	"r.(?)"	"p.(Arg283*)"	"9"
"0000592361"	"00009952"	"55"	"848"	"0"	"848"	"0"	"c.848G>A"	"r.(?)"	"p.(Arg283Gln)"	"9"
"0000592362"	"00009952"	"97"	"853"	"0"	"853"	"0"	"c.853C>T"	"r.(?)"	"p.(Gln285*)"	"9"
"0000592363"	"00009952"	"97"	"853"	"0"	"853"	"0"	"c.853C>T"	"r.(?)"	"p.(Gln285*)"	"9"
"0000592364"	"00009952"	"97"	"860"	"0"	"860"	"0"	"c.860A>T"	"r.(?)"	"p.(His287Leu)"	"9"
"0000592365"	"00009952"	"97"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(?)"	"p.(Cys291Tyr)"	"9"
"0000592366"	"00009952"	"55"	"875"	"0"	"875"	"0"	"c.875C>T"	"r.(?)"	"p.(Pro292Leu)"	"9"
"0000592367"	"00009952"	"55"	"892"	"0"	"892"	"0"	"c.892A>G"	"r.(?)"	"p.(Thr298Ala)"	"9"
"0000592368"	"00009952"	"99"	"913"	"0"	"913"	"0"	"c.913A>T"	"r.(?)"	"p.(Lys305*)"	"9"
"0000592369"	"00009952"	"97"	"913"	"0"	"913"	"0"	"c.913A>T"	"r.(?)"	"p.(Lys305*)"	"9"
"0000592370"	"00009952"	"77"	"913"	"0"	"913"	"0"	"c.913A>T"	"r.(?)"	"p.(Lys305*)"	"9"
"0000592371"	"00009952"	"55"	"923"	"0"	"923"	"0"	"c.923A>G"	"r.(?)"	"p.(Tyr308Cys)"	"9"
"0000592372"	"00009952"	"55"	"930"	"0"	"930"	"0"	"c.930G>A"	"r.(?)"	"p.(=)"	"9"
"0000592373"	"00009952"	"55"	"946"	"0"	"946"	"0"	"c.946G>A"	"r.(?)"	"p.(Val316Met)"	"9"
"0000592374"	"00009952"	"55"	"958"	"0"	"958"	"0"	"c.958T>C"	"r.(?)"	"p.(Ser320Pro)"	"9"
"0000592375"	"00009952"	"97"	"962"	"0"	"962"	"0"	"c.962C>A"	"r.(?)"	"p.(Ser321*)"	"9"
"0000592376"	"00009952"	"55"	"962"	"0"	"962"	"0"	"c.962C>T"	"r.(?)"	"p.(Ser321Leu)"	"9"
"0000592377"	"00009952"	"55"	"973"	"0"	"973"	"0"	"c.973G>A"	"r.(?)"	"p.(Gly325Ser)"	"9"
"0000592378"	"00009952"	"97"	"983"	"0"	"999"	"0"	"c.983_999del"	"r.(?)"	"p.(Leu328Hisfs*37)"	"9"
"0000592379"	"00009952"	"55"	"993"	"0"	"993"	"0"	"c.993G>T"	"r.(?)"	"p.(=)"	"9"
"0000592380"	"00009952"	"97"	"1007"	"0"	"1008"	"0"	"c.1007_1008delinsG"	"r.(?)"	"p.(Ala336Glyfs*10)"	"9"
"0000592381"	"00009952"	"55"	"1008"	"0"	"1008"	"0"	"c.1008C>T"	"r.(?)"	"p.(=)"	"9"
"0000592382"	"00009952"	"55"	"1011"	"0"	"1011"	"0"	"c.1011C>A"	"r.(?)"	"p.(Asp337Glu)"	"9"
"0000592383"	"00009952"	"55"	"1017"	"0"	"1017"	"0"	"c.1017C>G"	"r.(?)"	"p.(His339Gln)"	"9"
"0000592384"	"00009952"	"97"	"1019"	"0"	"1020"	"0"	"c.1019_1020del"	"r.(?)"	"p.(Thr340Argfs*30)"	"9"
"0000592385"	"00009952"	"97"	"1021"	"1"	"1021"	"1"	"c.1021+1G>C"	"r.784_1021del"	"p.(Pro262Asnfs*5)"	"9i"
"0000592386"	"00009952"	"55"	"1048"	"0"	"1048"	"0"	"c.1048G>A"	"r.(?)"	"p.(Gly350Arg)"	"10"
"0000592387"	"00009952"	"55"	"1056"	"0"	"1056"	"0"	"c.1056C>T"	"r.(?)"	"p.(=)"	"10"
"0000592388"	"00009952"	"55"	"1058"	"0"	"1058"	"0"	"c.1058G>A"	"r.(?)"	"p.(Gly353Glu)"	"10"
"0000592389"	"00009952"	"97"	"1064"	"0"	"1066"	"0"	"c.1064_1066del"	"r.(?)"	"p.(Thr355del)"	"10"
"0000592390"	"00009952"	"97"	"1064"	"0"	"1066"	"0"	"c.1064_1066del"	"r.(?)"	"p.(Thr355del)"	"10"
"0000592391"	"00009952"	"55"	"1081"	"0"	"1081"	"0"	"c.1081C>G"	"r.(?)"	"p.(Arg361Gly)"	"10"
"0000592392"	"00009952"	"11"	"1094"	"0"	"1094"	"0"	"c.1094T>C"	"r.(?)"	"p.(Met365Thr)"	"10"
"0000592393"	"00009952"	"55"	"1098"	"0"	"1098"	"0"	"c.1098G>A"	"r.(?)"	"p.(=)"	"10"
"0000592394"	"00009952"	"97"	"1100"	"0"	"1100"	"0"	"c.1100A>G"	"not specified"	"p.(Tyr367Cys)"	"10"
"0000592395"	"00009952"	"97"	"1106"	"0"	"1106"	"0"	"c.1106T>C"	"r.(?)"	"p.(Ile369Thr)"	"10"
"0000592396"	"00009952"	"97"	"1106"	"0"	"1106"	"0"	"c.1106T>C"	"r.(?)"	"p.(Ile369Thr)"	"10"
"0000592397"	"00009952"	"99"	"1126"	"0"	"1126"	"0"	"c.1126C>T"	"r.1126C>T"	"p.Gln376*"	"10"
"0000592398"	"00009952"	"97"	"1126"	"0"	"1126"	"0"	"c.1126C>T"	"r.(?)"	"p.(Gln376*)"	"10"
"0000592399"	"00009952"	"55"	"1128"	"0"	"1128"	"0"	"c.1128G>A"	"r.(?)"	"p.(=)"	"10"
"0000592400"	"00009952"	"11"	"1132"	"0"	"1132"	"0"	"c.1132G>C"	"r.(?)"	"p.(Gly378Arg)"	"10"
"0000592401"	"00009952"	"57"	"1136"	"0"	"1136"	"0"	"c.1136dup"	"r.(?)"	"p.(Leu380Profs*79)"	"10"
"0000592402"	"00009952"	"55"	"1137"	"0"	"1137"	"0"	"c.1137C>T"	"r.(?)"	"p.(=)"	"10"
"0000592403"	"00009952"	"55"	"1149"	"0"	"1149"	"0"	"c.1149C>T"	"r.(?)"	"p.(=)"	"10"
"0000592404"	"00009952"	"55"	"1160"	"0"	"1160"	"0"	"c.1160C>T"	"r.(?)"	"p.(Ala387Val)"	"10"
"0000592405"	"00009952"	"55"	"1161"	"0"	"1161"	"0"	"c.1161G>A"	"r.(?)"	"p.(=)"	"10"
"0000592406"	"00009952"	"55"	"1172"	"0"	"1172"	"0"	"c.1172C>T"	"r.(?)"	"p.(Pro391Leu)"	"10"
"0000592407"	"00009952"	"99"	"1172"	"0"	"1172"	"0"	"c.1172del"	"r.(?)"	"p.(Pro391ArgfsTer64)"	"10"
"0000592408"	"00009952"	"55"	"1179"	"0"	"1179"	"0"	"c.1179G>A"	"r.(?)"	"p.(=)"	"10"
"0000592409"	"00009952"	"97"	"1189"	"2"	"1189"	"2"	"c.1189+2T>A"	"r.spl?"	"p.?"	"10i"
"0000592410"	"00009952"	"97"	"1190"	"-1"	"1190"	"-1"	"c.1190-1G>A"	"r.spl?"	"p.?"	"10i"
"0000592411"	"00009952"	"55"	"1208"	"0"	"1208"	"0"	"c.1208G>A"	"r.(?)"	"p.(Arg403Gln)"	"11"
"0000592412"	"00009952"	"55"	"1217"	"0"	"1217"	"0"	"c.1217G>A"	"r.(?)"	"p.(Gly406Glu)"	"11"
"0000592413"	"00009952"	"99"	"1228"	"0"	"1228"	"0"	"c.1228C>T"	"r.(?)"	"p.(Gln410*)"	"11"
"0000592414"	"00009952"	"55"	"1242"	"0"	"1242"	"0"	"c.1242C>T"	"r.(?)"	"p.(=)"	"11"
"0000592415"	"00009952"	"55"	"1262"	"0"	"1262"	"0"	"c.1262C>T"	"r.(?)"	"p.(Ser421Phe)"	"11"
"0000592416"	"00009952"	"55"	"1272"	"0"	"1272"	"0"	"c.1272C>T"	"r.(?)"	"p.(=)"	"11"
"0000592417"	"00009952"	"55"	"1295"	"0"	"1295"	"0"	"c.1295C>T"	"r.(?)"	"p.(Thr432Met)"	"11"
"0000592418"	"00009952"	"11"	"1312"	"0"	"1312"	"0"	"c.1312C>T"	"r.(?)"	"p.(His438Tyr)"	"11"
"0000592419"	"00009952"	"55"	"1326"	"0"	"1326"	"0"	"c.1326T>G"	"r.(?)"	"p.(Asn442Lys)"	"11"
"0000592420"	"00009952"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.(?)"	"12"
"0000592421"	"00009952"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.(?)"	"12"
"0000592422"	"00009952"	"55"	"1331"	"0"	"1331"	"0"	"c.1331C>T"	"r.(?)"	"p.(Ser444Leu)"	"12"
"0000592423"	"00009952"	"97"	"1370"	"0"	"1370"	"0"	"c.1370dup"	"r.(?)"	"p.(His457Glnfs*2)"	"12"
"0000592424"	"00009952"	"97"	"1386"	"0"	"1387"	"0"	"c.1386_1387del"	"r.(?)"	"p.(Ser463Cysfs*25)"	"12"
"0000592425"	"00009952"	"97"	"1387"	"0"	"1392"	"0"	"c.1387_1392del"	"r.(?)"	"p.(Ser463_Val464del)"	"12"
"0000592426"	"00009952"	"97"	"1398"	"0"	"1398"	"0"	"c.1398G>A"	"r.(?)"	"p.(Trp466*)"	"12"
"0000592427"	"00009952"	"95"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.(Cys474Ser)"	"12"
"0000592428"	"00009952"	"97"	"1425"	"0"	"1425"	"0"	"c.1425del"	"r.(?)"	"p.(Gly476Alafs*3)"	"12"
"0000592429"	"00009952"	"55"	"1429"	"0"	"1429"	"0"	"c.1429G>A"	"r.(?)"	"p.(Val477Ile)"	"12"
"0000592430"	"00009952"	"97"	"1438"	"0"	"1438"	"0"	"c.1438G>T"	"r.(?)"	"p.(Glu480*)"	"12"
"0000592431"	"00009952"	"97"	"1440"	"0"	"1447"	"0"	"c.1440_1447delins16"	"r.?"	"p.(fs*)"	"12"
"0000592432"	"00009952"	"55"	"1451"	"0"	"1451"	"0"	"c.1451G>A"	"r.(?)"	"p.(Arg484His)"	"12"
"0000592433"	"00009952"	"97"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Arg486*)"	"12"
"0000592434"	"00009952"	"97"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Arg486*)"	"12"
"0000592435"	"00009952"	"99"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Arg486*)"	"12"
"0000592436"	"00009952"	"99"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Arg486*)"	"12"
"0000592437"	"00009952"	"99"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Arg486*)"	"12"
"0000592438"	"00009952"	"97"	"1483"	"182"	"1618"	"526"	"c.1483+182_1618+526del"	"r.?"	"p.(His496_Glu540del)"	"12i-13i"
"0000592439"	"00009952"	"99"	"1561"	"0"	"1561"	"0"	"c.1561C>G"	"r.(?)"	"p.(Arg521Gly)"	"13"
"0000592440"	"00009952"	"99"	"1561"	"0"	"1561"	"0"	"c.1561C>T"	"r.(?)"	"p.(Arg521*)"	"13"
"0000592441"	"00009952"	"99"	"1561"	"0"	"1561"	"0"	"c.1561C>T"	"r.(?)"	"p.(Arg521*)"	"13"
"0000592442"	"00009952"	"55"	"1569"	"0"	"1569"	"0"	"c.1569T>G"	"r.?"	"p.(=)"	"13"
"0000592443"	"00009952"	"11"	"1573"	"0"	"1573"	"0"	"c.1573G>A"	"r.(?)"	"p.(Ala525Thr)"	"13"
"0000592444"	"00009952"	"55"	"1584"	"0"	"1584"	"0"	"c.1584G>A"	"r.(?)"	"p.(=)"	"13"
"0000592445"	"00009952"	"97"	"1593"	"0"	"1593"	"0"	"c.1593G>A"	"r.(?)"	"p.(Trp531*)"	"13"
"0000592446"	"00009952"	"55"	"1600"	"0"	"1600"	"0"	"c.1600C>T"	"r.(?)"	"p.(Pro534Ser)"	"13"
"0000592447"	"00009952"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"14"
"0000592448"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592449"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592450"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592451"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592452"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592453"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592454"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592455"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592456"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592457"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592458"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592459"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592460"	"00009952"	"99"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592461"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592462"	"00009952"	"97"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592463"	"00009952"	"99"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592464"	"00009952"	"99"	"1623"	"0"	"1624"	"0"	"c.1623_1624delinsTT"	"r.(?)"	"p.(Gln542*)"	"14"
"0000592465"	"00009952"	"97"	"1706"	"0"	"1706"	"0"	"c.1706G>A"	"r.(?)"	"p.(Gly569Asp)"	"14"
"0000592466"	"00009952"	"55"	"1719"	"0"	"1719"	"0"	"c.1719C>T"	"r.(?)"	"p.(=)"	"15"
"0000592467"	"00009952"	"97"	"1749"	"0"	"1750"	"0"	"c.1749_1750dup"	"r.(?)"	"p.(Pro584Hisfs*37)"	"15"
"0000592468"	"00009952"	"99"	"1749"	"0"	"1750"	"0"	"c.1749_1750dup"	"r.(?)"	"p.(Pro584Hisfs*37)"	"15"
"0000592469"	"00009952"	"97"	"1765"	"0"	"1765"	"0"	"c.1765del"	"r.(?)"	"p.(Ala589Profs*31)"	"15"
"0000592470"	"00009952"	"55"	"1768"	"0"	"1768"	"0"	"c.1768A>T"	"r.(?)"	"p.(Ile590Phe)"	"15"
"0000592471"	"00009952"	"55"	"1770"	"0"	"1770"	"0"	"c.1770T>G"	"r.(?)"	"p.(Ile590Met)"	"15"
"0000592472"	"00009952"	"11"	"1781"	"0"	"1781"	"0"	"c.1781G>A"	"r.(?)"	"p.(Gly594Glu)"	"15"
"0000592473"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592474"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592475"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592476"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592477"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592478"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592479"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592480"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592481"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592482"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592483"	"00009952"	"99"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592484"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.spl?"	"p.?"	"15i"
"0000592485"	"00009952"	"97"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.spl?"	"p.?"	"15i"
"0000592486"	"00009952"	"99"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592487"	"00009952"	"99"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592488"	"00009952"	"99"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.spl?"	"p.(Ala573Leufs*22)"	"15i"
"0000592489"	"00009952"	"99"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.spl?"	"p.(Ala573Leufs*22)"	"15i"
"0000592490"	"00009952"	"99"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592491"	"00009952"	"99"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.(1716_1791del)"	"p.(Ala573Leufs*22)"	"15i"
"0000592492"	"00009952"	"99"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.spl?"	"p.(Ala573Leufs*22)"	"15i"
"0000592493"	"00009952"	"55"	"1813"	"0"	"1813"	"0"	"c.1813G>T"	"r.(?)"	"p.(Val605Leu)"	"16"
"0000592494"	"00009952"	"55"	"1835"	"0"	"1835"	"0"	"c.1835C>T"	"r.(?)"	"p.(Ser612Phe)"	"16"
"0000592495"	"00009952"	"55"	"1879"	"0"	"1879"	"0"	"c.1879G>A"	"r.(?)"	"p.(Glu627Lys)"	"16"
"0000592496"	"00009952"	"55"	"1914"	"0"	"1914"	"0"	"c.1914T>C"	"r.(?)"	"p.(=)"	"16"
"0000592497"	"00009952"	"55"	"1960"	"0"	"1960"	"0"	"c.1960G>A"	"r.(?)"	"p.(Asp654Asn)"	"16"
"0000592498"	"00009952"	"55"	"2019"	"0"	"2019"	"0"	"c.*30C>T"	"r.(=)"	"p.(=)"	"17"
"0000592499"	"00009952"	"55"	"2023"	"0"	"2023"	"0"	"c.2023T>C"	"r.?"	"p.(=)"	"17"
"0000617462"	"00009952"	"30"	"1172"	"0"	"1172"	"0"	"c.1172C>T"	"r.(?)"	"p.(Pro391Leu)"	""
"0000623959"	"00009952"	"30"	"180"	"0"	"180"	"0"	"c.180C>T"	"r.(?)"	"p.(Tyr60=)"	""
"0000632019"	"00009952"	"50"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Asp101Asn)"	""
"0000632021"	"00009952"	"70"	"631"	"0"	"631"	"0"	"c.631C>T"	"r.(?)"	"p.(Arg211*)"	""
"0000649922"	"00009952"	"10"	"848"	"0"	"848"	"0"	"c.848G>A"	"r.(?)"	"p.(Arg283Gln)"	""
"0000649923"	"00009952"	"50"	"695"	"0"	"695"	"0"	"c.695C>T"	"r.(?)"	"p.(Pro232Leu)"	""
"0000658526"	"00009952"	"50"	"1516"	"0"	"1516"	"0"	"c.1516A>G"	"r.(?)"	"p.(Thr506Ala)"	""
"0000658527"	"00009952"	"30"	"793"	"0"	"793"	"0"	"c.793C>T"	"r.(?)"	"p.(Leu265=)"	""
"0000658528"	"00009952"	"30"	"735"	"0"	"735"	"0"	"c.735G>A"	"r.(?)"	"p.(Val245=)"	""
"0000658529"	"00009952"	"30"	"-51"	"0"	"-51"	"0"	"c.-51C>T"	"r.(?)"	"p.(=)"	""
"0000681336"	"00009952"	"30"	"1619"	"-6"	"1619"	"-6"	"c.1619-6C>T"	"r.(=)"	"p.(=)"	""
"0000681337"	"00009952"	"30"	"1172"	"0"	"1172"	"0"	"c.1172C>T"	"r.(?)"	"p.(Pro391Leu)"	""
"0000727212"	"00009952"	"30"	"1879"	"0"	"1879"	"0"	"c.1879G>A"	"r.(?)"	"p.(Glu627Lys)"	""
"0000734176"	"00009952"	"50"	"1384"	"0"	"1384"	"0"	"c.1384G>T"	"r.(?)"	"p.(Val462Leu)"	""
"0000735406"	"00009952"	"50"	"1429"	"0"	"1429"	"0"	"c.1429G>A"	"r.(?)"	"p.(Val477Ile)"	""
"0000735430"	"00009952"	"50"	"1384"	"0"	"1384"	"0"	"c.1384G>T"	"r.(?)"	"p.(Val462Leu)"	""
"0000735496"	"00009952"	"50"	"1384"	"0"	"1384"	"0"	"c.1384G>T"	"r.(?)"	"p.(Val462Leu)"	""
"0000763704"	"00009952"	"50"	"222"	"0"	"222"	"0"	"c.222C>G"	"r.(?)"	"p.(Ser74Arg)"	""
"0000855488"	"00009952"	"30"	"1551"	"0"	"1551"	"0"	"c.1551G>A"	"r.(?)"	"p.(Thr517=)"	""
"0000855489"	"00009952"	"90"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Gln32*)"	""
"0000865959"	"00009952"	"50"	"683"	"0"	"683"	"0"	"c.683C>T"	"r.(?)"	"p.(Pro228Leu)"	""
"0000865960"	"00009952"	"30"	"580"	"13"	"580"	"15"	"c.580+13_580+15del"	"r.(=)"	"p.(=)"	""
"0000894870"	"00009952"	"10"	"1573"	"0"	"1573"	"0"	"c.1573G>A"	"r.(?)"	"p.(Ala525Thr)"	""
"0000894871"	"00009952"	"30"	"1149"	"0"	"1149"	"0"	"c.1149C>T"	"r.(?)"	"p.(Cys383=)"	""
"0000894872"	"00009952"	"30"	"581"	"-18"	"581"	"-18"	"c.581-18C>T"	"r.(=)"	"p.(=)"	""
"0000915162"	"00009952"	"30"	"1914"	"0"	"1914"	"0"	"c.1914T>C"	"r.(?)"	"p.(Pro638=)"	""
"0000915163"	"00009952"	"90"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Arg486*)"	""
"0000915164"	"00009952"	"30"	"1138"	"0"	"1138"	"0"	"c.1138C>A"	"r.(?)"	"p.(Leu380Ile)"	""
"0000915165"	"00009952"	"10"	"139"	"0"	"139"	"0"	"c.139C>T"	"r.(?)"	"p.(Pro47Ser)"	""
"0000915166"	"00009952"	"30"	"131"	"0"	"131"	"0"	"c.131C>T"	"r.(?)"	"p.(Ala44Val)"	""
"0000920266"	"00009952"	"90"	"1791"	"2"	"1791"	"2"	"c.1791+2T>G"	"r.spl"	"p.?"	"16"
"0000926842"	"00009952"	"30"	"1813"	"0"	"1813"	"0"	"c.1813G>T"	"r.(?)"	"p.(Val605Leu)"	""
"0000926843"	"00009952"	"30"	"1786"	"0"	"1786"	"0"	"c.1786A>G"	"r.(?)"	"p.(Lys596Glu)"	""
"0000926844"	"00009952"	"30"	"285"	"0"	"285"	"0"	"c.285C>T"	"r.(?)"	"p.(Thr95=)"	""
"0000926845"	"00009952"	"30"	"222"	"0"	"222"	"0"	"c.222C>G"	"r.(?)"	"p.(Ser74Arg)"	""
"0000926846"	"00009952"	"30"	"129"	"0"	"129"	"0"	"c.129G>A"	"r.(?)"	"p.(Ser43=)"	""
"0001015767"	"00009952"	"10"	"1573"	"0"	"1573"	"0"	"c.1573G>A"	"r.(?)"	"p.(Ala525Thr)"	""
"0001042795"	"00009952"	"50"	"1021"	"893"	"1021"	"893"	"c.1021+893dup"	"r.(=)"	"p.(=)"	""
"0001056575"	"00009952"	"50"	"1964"	"0"	"1964"	"0"	"c.1964G>A"	"r.(?)"	"p.(Gly655Glu)"	""
"0001056576"	"00009952"	"90"	"1624"	"0"	"1624"	"0"	"c.1624C>T"	"r.(?)"	"p.(Gln542*)"	""
"0001067150"	"00009952"	"50"	"-10973"	"0"	"-10973"	"0"	"c.-10973C>T"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 319
"{{screeningid}}"	"{{variantid}}"
"0000261763"	"0000592190"
"0000261763"	"0000592191"
"0000261763"	"0000592192"
"0000261763"	"0000592193"
"0000261763"	"0000592210"
"0000261763"	"0000592216"
"0000261763"	"0000592217"
"0000261763"	"0000592218"
"0000261763"	"0000592219"
"0000261763"	"0000592220"
"0000261763"	"0000592221"
"0000261763"	"0000592222"
"0000261763"	"0000592223"
"0000261763"	"0000592224"
"0000261763"	"0000592225"
"0000261763"	"0000592226"
"0000261763"	"0000592227"
"0000261763"	"0000592230"
"0000261763"	"0000592231"
"0000261763"	"0000592232"
"0000261763"	"0000592233"
"0000261763"	"0000592237"
"0000261763"	"0000592239"
"0000261763"	"0000592245"
"0000261763"	"0000592246"
"0000261763"	"0000592247"
"0000261763"	"0000592249"
"0000261763"	"0000592250"
"0000261763"	"0000592251"
"0000261763"	"0000592252"
"0000261763"	"0000592253"
"0000261763"	"0000592255"
"0000261763"	"0000592256"
"0000261763"	"0000592258"
"0000261763"	"0000592280"
"0000261763"	"0000592283"
"0000261763"	"0000592295"
"0000261763"	"0000592302"
"0000261763"	"0000592303"
"0000261763"	"0000592305"
"0000261763"	"0000592306"
"0000261763"	"0000592307"
"0000261763"	"0000592315"
"0000261763"	"0000592319"
"0000261763"	"0000592320"
"0000261763"	"0000592322"
"0000261763"	"0000592323"
"0000261763"	"0000592324"
"0000261763"	"0000592325"
"0000261763"	"0000592326"
"0000261763"	"0000592332"
"0000261763"	"0000592333"
"0000261763"	"0000592334"
"0000261763"	"0000592335"
"0000261763"	"0000592336"
"0000261763"	"0000592337"
"0000261763"	"0000592353"
"0000261763"	"0000592354"
"0000261763"	"0000592355"
"0000261763"	"0000592356"
"0000261763"	"0000592357"
"0000261763"	"0000592361"
"0000261763"	"0000592366"
"0000261763"	"0000592367"
"0000261763"	"0000592371"
"0000261763"	"0000592372"
"0000261763"	"0000592373"
"0000261763"	"0000592374"
"0000261763"	"0000592376"
"0000261763"	"0000592377"
"0000261763"	"0000592379"
"0000261763"	"0000592381"
"0000261763"	"0000592382"
"0000261763"	"0000592383"
"0000261763"	"0000592386"
"0000261763"	"0000592387"
"0000261763"	"0000592388"
"0000261763"	"0000592391"
"0000261763"	"0000592392"
"0000261763"	"0000592393"
"0000261763"	"0000592399"
"0000261763"	"0000592400"
"0000261763"	"0000592401"
"0000261763"	"0000592402"
"0000261763"	"0000592403"
"0000261763"	"0000592404"
"0000261763"	"0000592405"
"0000261763"	"0000592406"
"0000261763"	"0000592408"
"0000261763"	"0000592411"
"0000261763"	"0000592412"
"0000261763"	"0000592414"
"0000261763"	"0000592415"
"0000261763"	"0000592416"
"0000261763"	"0000592417"
"0000261763"	"0000592418"
"0000261763"	"0000592419"
"0000261763"	"0000592422"
"0000261763"	"0000592429"
"0000261763"	"0000592432"
"0000261763"	"0000592442"
"0000261763"	"0000592443"
"0000261763"	"0000592444"
"0000261763"	"0000592446"
"0000261763"	"0000592466"
"0000261763"	"0000592470"
"0000261763"	"0000592471"
"0000261763"	"0000592472"
"0000261763"	"0000592493"
"0000261763"	"0000592494"
"0000261763"	"0000592495"
"0000261763"	"0000592496"
"0000261763"	"0000592497"
"0000261763"	"0000592498"
"0000261763"	"0000592499"
"0000261935"	"0000592196"
"0000262055"	"0000592194"
"0000262056"	"0000592195"
"0000262057"	"0000592197"
"0000262058"	"0000592198"
"0000262059"	"0000592199"
"0000262060"	"0000592200"
"0000262061"	"0000592201"
"0000262062"	"0000592202"
"0000262063"	"0000592203"
"0000262064"	"0000592204"
"0000262065"	"0000592205"
"0000262066"	"0000592206"
"0000262067"	"0000592207"
"0000262068"	"0000592208"
"0000262069"	"0000592209"
"0000262069"	"0000592453"
"0000262070"	"0000592211"
"0000262070"	"0000592449"
"0000262071"	"0000592212"
"0000262072"	"0000592213"
"0000262073"	"0000592214"
"0000262074"	"0000592215"
"0000262075"	"0000592228"
"0000262075"	"0000592235"
"0000262076"	"0000592229"
"0000262077"	"0000592234"
"0000262078"	"0000592236"
"0000262079"	"0000592238"
"0000262080"	"0000592240"
"0000262081"	"0000592241"
"0000262082"	"0000592242"
"0000262083"	"0000592243"
"0000262084"	"0000592244"
"0000262085"	"0000592254"
"0000262085"	"0000592463"
"0000262086"	"0000592257"
"0000262087"	"0000592259"
"0000262088"	"0000592260"
"0000262088"	"0000592431"
"0000262089"	"0000592261"
"0000262089"	"0000592380"
"0000262090"	"0000592262"
"0000262091"	"0000592263"
"0000262092"	"0000592264"
"0000262092"	"0000592378"
"0000262093"	"0000592265"
"0000262094"	"0000592266"
"0000262095"	"0000592267"
"0000262096"	"0000592268"
"0000262097"	"0000592269"
"0000262098"	"0000592270"
"0000262099"	"0000592271"
"0000262100"	"0000592272"
"0000262101"	"0000592273"
"0000262102"	"0000592274"
"0000262103"	"0000592275"
"0000262104"	"0000592276"
"0000262105"	"0000592277"
"0000262106"	"0000592278"
"0000262107"	"0000592279"
"0000262108"	"0000592281"
"0000262109"	"0000592282"
"0000262110"	"0000592284"
"0000262111"	"0000592285"
"0000262112"	"0000592286"
"0000262113"	"0000592287"
"0000262114"	"0000592288"
"0000262115"	"0000592289"
"0000262116"	"0000592290"
"0000262117"	"0000592291"
"0000262118"	"0000592292"
"0000262119"	"0000592293"
"0000262120"	"0000592294"
"0000262121"	"0000592296"
"0000262122"	"0000592297"
"0000262123"	"0000592298"
"0000262124"	"0000592299"
"0000262125"	"0000592300"
"0000262126"	"0000592301"
"0000262127"	"0000592304"
"0000262128"	"0000592308"
"0000262128"	"0000592330"
"0000262129"	"0000592309"
"0000262129"	"0000592425"
"0000262130"	"0000592310"
"0000262131"	"0000592311"
"0000262132"	"0000592312"
"0000262133"	"0000592313"
"0000262134"	"0000592314"
"0000262134"	"0000592396"
"0000262135"	"0000592316"
"0000262136"	"0000592317"
"0000262137"	"0000592318"
"0000262138"	"0000592321"
"0000262139"	"0000592327"
"0000262140"	"0000592328"
"0000262141"	"0000592329"
"0000262142"	"0000592331"
"0000262143"	"0000592338"
"0000262144"	"0000592339"
"0000262145"	"0000592340"
"0000262146"	"0000592341"
"0000262147"	"0000592342"
"0000262148"	"0000592343"
"0000262149"	"0000592344"
"0000262150"	"0000592345"
"0000262151"	"0000592346"
"0000262152"	"0000592347"
"0000262153"	"0000592348"
"0000262154"	"0000592349"
"0000262155"	"0000592350"
"0000262156"	"0000592351"
"0000262157"	"0000592352"
"0000262158"	"0000592358"
"0000262159"	"0000592359"
"0000262160"	"0000592360"
"0000262161"	"0000592362"
"0000262162"	"0000592363"
"0000262163"	"0000592364"
"0000262164"	"0000592365"
"0000262165"	"0000592368"
"0000262166"	"0000592369"
"0000262167"	"0000592370"
"0000262168"	"0000592375"
"0000262169"	"0000592384"
"0000262170"	"0000592385"
"0000262171"	"0000592389"
"0000262172"	"0000592390"
"0000262173"	"0000592394"
"0000262174"	"0000592395"
"0000262174"	"0000592460"
"0000262175"	"0000592397"
"0000262176"	"0000592398"
"0000262177"	"0000592407"
"0000262178"	"0000592409"
"0000262178"	"0000592484"
"0000262179"	"0000592410"
"0000262180"	"0000592413"
"0000262181"	"0000592420"
"0000262182"	"0000592421"
"0000262183"	"0000592423"
"0000262184"	"0000592424"
"0000262185"	"0000592426"
"0000262185"	"0000592447"
"0000262186"	"0000592427"
"0000262187"	"0000592428"
"0000262188"	"0000592430"
"0000262189"	"0000592433"
"0000262190"	"0000592434"
"0000262191"	"0000592435"
"0000262191"	"0000592488"
"0000262192"	"0000592436"
"0000262193"	"0000592437"
"0000262194"	"0000592438"
"0000262194"	"0000592467"
"0000262195"	"0000592439"
"0000262196"	"0000592440"
"0000262197"	"0000592441"
"0000262198"	"0000592445"
"0000262199"	"0000592448"
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