### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOTCH2NLC) # 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}}" "NOTCH2NLC" "notch 2 N-terminal like C" "1" "q21.2" "unknown" "NC_000001.10" "NC_000001.10" "" "https://www.LOVD.nl/NOTCH2NLC" "" "1" "53924" "100996717" "618025" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2019-06-28 00:00:00" "00006" "2022-02-13 13:51:59" "00006" "2020-08-05 10:20:14" ## 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}}" "00025417" "NOTCH2NLC" "transcript variant 1" "000" "NM_001364012.1" "" "NP_001350941.1" "" "" "" "-329" "1861" "711" "1" "1" "00001" "2019-06-28 17:41:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "05612" "NIID" "neuronal intranuclear inclusion disease (NIID)" "AD" "603472" "" "" "" "00006" "2019-06-19 15:39:37" "00006" "2020-05-15 10:24:05" "05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58" "05741" "OPDM" "myopathy, oculopharyngodistal (OPDM)" "" "" "" "" "" "00006" "2020-05-14 18:50:02" "" "" "05743" "ETM" "tremor, hereditary essential (ETM)" "" "" "" "" "" "00006" "2020-05-15 10:25:11" "00006" "2020-05-15 10:25:22" "05744" "ETM6" "tremor, hereditary essential, type 6 (ETM6)" "AD" "618866" "" "" "" "00006" "2020-05-15 10:26:04" "00006" "2020-05-15 11:00:32" "06896" "OPDM3" "myopathy, oculopharyngodistal, type 3 (OPDM3)" "AD" "619473" "" "" "" "00006" "2022-02-13 13:51:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "NOTCH2NLC" "05612" "NOTCH2NLC" "05741" "NOTCH2NLC" "05743" "NOTCH2NLC" "05744" "NOTCH2NLC" "06896" ## Individuals ## Do not remove or alter this header ## ## Count = 132 "{{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}}" "00240393" "" "" "" "12" "" "00006" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "5-generation family, 12 affected (1F, 11M), unaffected non-carrier parents" "F;M" "no" "China" "" "0" "" "" "" "Family 1" "00240394" "" "" "" "3" "" "00006" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "2-generation family, 3 affected sibs (2F, M)" "F;M" "no" "China" "" "0" "" "" "" "Family 2" "00240395" "" "" "" "3" "" "00006" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "2-generation family, affected mother/daughter/son (2F, M)" "F;M" "no" "China" "" "0" "" "" "" "Family 3" "00240396" "" "" "" "2" "" "00006" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "2-generation family, 2 affected sisters" "F" "no" "China" "" "0" "" "" "" "Family 4" "00240397" "" "" "" "3" "" "00006" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "2-generation family, 3 affected brothers" "M" "no" "China" "" "0" "" "" "" "Family 5" "00240398" "" "" "" "3" "" "00006" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "2-generation family, affected father/2 brothers" "M" "no" "China" "" "0" "" "" "" "Family 6" "00240399" "" "" "" "3" "" "00006" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "2-generation family, affected father/daughter/son (F, 2M)" "F;M" "no" "China" "" "0" "" "" "" "Family 7" "00240400" "" "" "" "7" "" "00006" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "3-generation family, 7 affected (4F, 3M)" "F;M" "no" "China" "" "0" "" "" "" "Family 8" "00240401" "" "" "" "4" "" "00006" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "2-generation family, affected mother/daughter/2 sons (2F, 2M)" "F;M" "no" "China" "" "0" "" "" "" "Family 9" "00301413" "" "" "" "10" "" "00006" "{PMID:Sone 2019:31332381}" "3-generation family, 10 affected (3F, 7M)" "M" "no" "Japan" "" "0" "" "" "" "Fam1Pat1" "00301414" "" "" "00301413" "1" "" "00006" "{PMID:Sone 2019:31332381}" "" "M" "" "Japan" "" "0" "" "" "" "Fam1Pat8" "00301415" "" "" "" "7" "" "00006" "{PMID:Sone 2019:31332381}" "3-generation family, 7 affected (4F, 3M)" "F" "" "Japan" "" "0" "" "" "" "Fam2Pat2" "00301416" "" "" "" "2" "" "00006" "{PMID:Sone 2019:31332381}" "3-generation family, 2 affected (2F)" "F" "" "Japan" "" "0" "" "" "" "Fam3Pat1" "00301417" "" "" "" "4" "" "00006" "{PMID:Sone 2019:31332381}" "2-generation family, 4 affected sisters (4F)" "F" "" "Japan" "" "0" "" "" "" "Fam4Pat2" "00301418" "" "" "" "2" "" "00006" "{PMID:Sone 2019:31332381}" "2-generation family, 2 affected (F, M)" "F" "" "Japan" "" "0" "" "" "" "Fam7Pat1" "00301419" "" "" "" "2" "" "00006" "{PMID:Sone 2019:31332381}" "2-generation family, 2 affected sisters (2F)" "F" "" "Japan" "" "0" "" "" "" "Fam8Pat1" "00301420" "" "" "" "2" "" "00006" "{PMID:Sone 2019:31332381}" "2-generation family, 2 affected (F, M)" "M" "" "Japan" "" "0" "" "" "" "Fam9Pat1" "00301421" "" "" "" "4" "" "00006" "{PMID:Sone 2019:31332381}" "3-generation family, 4 affected (2F, 2M)" "M" "" "Japan" "" "0" "" "" "" "FamDPat2" "00301422" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3619" "00301423" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3624" "00301424" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3692" "00301425" "" "" "" "4" "" "00006" "{PMID:Sone 2019:31332381}" "3-generation family, 2 affected (F, M)" "" "" "Japan" "" "0" "" "" "" "Fam10" "00301426" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3614" "00301427" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3615" "00301428" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3616" "00301429" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3618" "00301430" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3623" "00301431" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3625" "00301432" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3626" "00301433" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3627" "00301434" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3628" "00301435" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3630" "00301436" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3636" "00301437" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3639" "00301438" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3644" "00301439" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3645" "00301440" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3646" "00301441" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3647" "00301442" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3648" "00301443" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3650" "00301444" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3652" "00301445" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3653" "00301446" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3654" "00301447" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3658" "00301448" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3661" "00301449" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3662" "00301450" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3663" "00301451" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3665" "00301452" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3667" "00301453" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3668" "00301454" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3672" "00301455" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3673" "00301456" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3676" "00301457" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3677" "00301458" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3683" "00301459" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "3687" "00301460" "" "" "" "1" "" "00006" "{PMID:Sone 2019:31332381}" "sporadic case" "" "" "Japan" "" "0" "" "" "" "S81" "00301462" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301463" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301464" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301465" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301466" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301467" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301468" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301469" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301470" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301471" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301472" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301473" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301474" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301475" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301476" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301477" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301478" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301479" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301480" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301481" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301482" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301483" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301484" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301485" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301486" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301487" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301488" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301489" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301490" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301491" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301492" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301493" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301494" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301495" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301496" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301497" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301498" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301499" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301500" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301501" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301502" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301503" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301504" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301505" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301506" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301507" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301508" "" "" "" "1" "" "00006" "{PMID:Ishihura 2019:31332380}" "analysis 182 controls" "" "" "Japan" "" "0" "" "" "" "control" "00301570" "" "" "" "4" "" "00006" "{PMID:Ishiura 2019:31332380}" "3-generation family, 4 affected (2F, M)" "" "" "Japan" "" "0" "" "" "" "FamF6321" "00301571" "" "" "" "4" "" "00006" "{PMID:Ishiura 2019:31332380}" "2-generation family, 4 affected brothers (4M)" "" "" "Japan" "" "0" "" "" "" "FamF9193" "00301572" "" "" "" "3" "" "00006" "{PMID:Ishiura 2019:31332380}" "2-generation family, 3 affected sibs (F, 2M)" "" "" "Japan" "" "0" "" "" "" "FamF11393" "00301573" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "family" "" "" "Japan" "" "0" "" "" "" "FamF8504" "00301574" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "family" "" "" "Japan" "" "0" "" "" "" "Fam9703" "00301575" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "family" "" "" "Japan" "" "0" "" "" "" "Fam10198" "00301576" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "family" "" "" "Japan" "" "0" "" "" "" "Fam10522" "00301577" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "family" "" "" "Japan" "" "0" "" "" "" "Fam10524" "00301578" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "family" "" "" "Japan" "" "0" "" "" "" "Fam10709" "00301579" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "family" "" "" "Japan" "" "0" "" "" "" "Fam10983" "00301580" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "family" "" "" "Japan" "" "0" "" "" "" "Fam11312" "00301581" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "family" "" "" "Japan" "" "0" "" "" "" "Fam11624" "00301582" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF7756" "00301583" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF8791" "00301584" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF8821" "00301585" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF8832" "00301586" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF8982" "00301587" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF9224" "00301588" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF9468" "00301589" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF9681" "00301590" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF9714" "00301591" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF10587" "00301592" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF10588" "00301593" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "NIIDSpoF11596" "00301594" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "PatF8775" "00301595" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Japan" "" "0" "" "" "" "PatF8776" "00301596" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Malaysia" "" "0" "" "" "China" "MalPat1" "00301597" "" "" "" "1" "" "00006" "{PMID:Ishiura 2019:31332380}" "" "" "" "Malaysia" "" "0" "" "" "China" "MalPat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 132 "{{individualid}}" "{{diseaseid}}" "00240393" "05612" "00240394" "05612" "00240395" "05612" "00240396" "05612" "00240397" "05613" "00240398" "05613" "00240399" "05613" "00240400" "00198" "00240401" "00198" "00301413" "05612" "00301414" "05612" "00301415" "05612" "00301416" "05612" "00301417" "05612" "00301418" "05612" "00301419" "05612" "00301420" "05612" "00301421" "05612" "00301422" "05612" "00301423" "05612" "00301424" "05612" "00301425" "05612" "00301426" "05612" "00301427" "05612" "00301428" "05612" "00301429" "05612" "00301430" "05612" "00301431" "05612" "00301432" "05612" "00301433" "05612" "00301434" "05612" "00301435" "05612" "00301436" "05612" "00301437" "05612" "00301438" "05612" "00301439" "05612" "00301440" "05612" "00301441" "05612" "00301442" "05612" "00301443" "05612" "00301444" "05612" "00301445" "05612" "00301446" "05612" "00301447" "05612" "00301448" "05612" "00301449" "05612" "00301450" "05612" "00301451" "05612" "00301452" "05612" "00301453" "05612" "00301454" "05612" "00301455" "05612" "00301456" "05612" "00301457" "05612" "00301458" "05612" "00301459" "05612" "00301460" "05612" "00301462" "00000" "00301463" "00000" "00301464" "00000" "00301465" "00000" "00301466" "00000" "00301467" "00000" "00301468" "00000" "00301469" "00000" "00301470" "00000" "00301471" "00000" "00301472" "00000" "00301473" "00000" "00301474" "00000" "00301475" "00000" "00301476" "00000" "00301477" "00000" "00301478" "00000" "00301479" "00000" "00301480" "00000" "00301481" "00000" "00301482" "00000" "00301483" "00000" "00301484" "00000" "00301485" "00000" "00301486" "00000" "00301487" "00000" "00301488" "00000" "00301489" "00000" "00301490" "00000" "00301491" "00000" "00301492" "00000" "00301493" "00000" "00301494" "00000" "00301495" "00000" "00301496" "00000" "00301497" "00000" "00301498" "00000" "00301499" "00000" "00301500" "00000" "00301501" "00000" "00301502" "00000" "00301503" "00000" "00301504" "00000" "00301505" "00000" "00301506" "00000" "00301507" "00000" "00301508" "00000" "00301570" "05612" "00301571" "05612" "00301572" "05612" "00301573" "05612" "00301574" "05612" "00301575" "05612" "00301576" "05612" "00301577" "05612" "00301578" "05612" "00301579" "05612" "00301580" "05612" "00301581" "05612" "00301582" "05612" "00301583" "05612" "00301584" "05612" "00301585" "05612" "00301586" "05612" "00301587" "05612" "00301588" "05612" "00301589" "05612" "00301590" "05612" "00301591" "05612" "00301592" "05612" "00301593" "05612" "00301594" "05612" "00301595" "05612" "00301596" "05612" "00301597" "05612" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 05612, 05613, 05741, 05743, 05744, 06896 ## Count = 84 "{{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}}" "0000180458" "05612" "00240393" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neuronal intranuclear inclusion disease" "" "0000180459" "05612" "00240394" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neuronal intranuclear inclusion disease" "" "0000180460" "05612" "00240395" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neuronal intranuclear inclusion disease" "" "0000180461" "05612" "00240396" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neuronal intranuclear inclusion disease" "" "0000180462" "05613" "00240397" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Parkinson disease" "" "0000180463" "05613" "00240398" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Parkinson disease" "" "0000180465" "00198" "00240401" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Parkinson disease, dementia" "" "0000180466" "00198" "00240400" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "dementia" "" "0000228589" "05612" "00301413" "00006" "Familial, autosomal dominant" "" "see paper; ..., motor-sensory neuropathy, autonomic neuropathy and weakness" "" "" "" "" "" "" "" "" "" "neuronal intranuclear inclusion disease" "" "0000228590" "05612" "00301414" "00006" "Familial, autosomal dominant" "" "see paper; ..., motor-sensory neuropathy, autonomic neuropathy and weakness" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228591" "05612" "00301415" "00006" "Familial, autosomal dominant" "" "see paper; ..., motor-sensory neuropathy, autonomic neuropathy and weakness" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228592" "05612" "00301416" "00006" "Familial, autosomal dominant" "" "see paper; ..., neuropathy (weakness), dementia" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228593" "05612" "00301417" "00006" "Familial, autosomal dominant" "" "see paper; ..., dementia, leukoencephalopathy" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228594" "05612" "00301418" "00006" "Familial, autosomal dominant" "" "see paper; ..., dementia, leukoencephalopathy" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228595" "05612" "00301419" "00006" "Familial, autosomal dominant" "" "see paper; ..., dementia, leukoencephalopathy" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228596" "05612" "00301420" "00006" "Familial, autosomal dominant" "" "see paper; ..., dementia, leukoencephalopathy" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228597" "05612" "00301421" "00006" "Familial, autosomal dominant" "" "see paper; ..., dementia, leukoencephalopathy" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228598" "05612" "00301422" "00006" "Unknown" "" "see paper; ..., dementia, leukoencephalopathy" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228599" "05612" "00301423" "00006" "Unknown" "" "see paper; ..., dementia, leukoencephalopathy" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228600" "05612" "00301424" "00006" "Unknown" "" "see paper; ..., neuropathy (weakness), dementia" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228601" "05612" "00301425" "00006" "Familial, autosomal dominant" "" "see paper; ..., dementia, leukoencephalopathy" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228602" "05612" "00301426" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228603" "05612" "00301427" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228604" "05612" "00301428" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228605" "05612" "00301429" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228606" "05612" "00301430" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228607" "05612" "00301431" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228608" "05612" "00301432" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228609" "05612" "00301433" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228610" "05612" "00301434" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228611" "05612" "00301435" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228612" "05612" "00301436" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228613" "05612" "00301437" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228614" "05612" "00301438" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228615" "05612" "00301439" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228616" "05612" "00301440" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228617" "05612" "00301441" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228618" "05612" "00301442" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228619" "05612" "00301443" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228620" "05612" "00301444" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228621" "05612" "00301445" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228622" "05612" "00301446" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228623" "05612" "00301447" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228624" "05612" "00301448" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228625" "05612" "00301449" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228626" "05612" "00301450" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228627" "05612" "00301451" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228628" "05612" "00301452" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228629" "05612" "00301453" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228630" "05612" "00301454" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228631" "05612" "00301455" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228632" "05612" "00301456" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228633" "05612" "00301457" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228634" "05612" "00301458" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228635" "05612" "00301459" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228636" "05612" "00301460" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228682" "05612" "00301570" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228683" "05612" "00301571" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228684" "05612" "00301572" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228685" "05612" "00301573" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228686" "05612" "00301574" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228687" "05612" "00301575" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228688" "05612" "00301576" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228689" "05612" "00301577" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228690" "05612" "00301578" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228691" "05612" "00301579" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228692" "05612" "00301580" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228693" "05612" "00301581" "00006" "Familial, autosomal dominant" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228694" "05612" "00301582" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228695" "05612" "00301583" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228696" "05612" "00301584" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228697" "05612" "00301585" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228698" "05612" "00301586" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228699" "05612" "00301587" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228700" "05612" "00301588" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228701" "05612" "00301589" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228702" "05612" "00301590" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228703" "05612" "00301591" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228704" "05612" "00301592" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228705" "05612" "00301593" "00006" "Isolated (sporadic)" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228706" "05612" "00301594" "00006" "Unknown" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228707" "05612" "00301595" "00006" "Unknown" "" "MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228708" "05612" "00301596" "00006" "Unknown" "" "tremor, ataxia, peripheral neuropathy, urinary incontinence, cognitive decline" "53y" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" "0000228709" "05612" "00301597" "00006" "Unknown" "" "onset middle age; unusual resting and action upper limb tremor, gait ataxia, urinary incontinence" "" "" "" "" "" "" "" "" "NIID" "neuronal intranuclear inclusion disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 132 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000241503" "00240393" "1" "00006" "00006" "2019-06-19 16:17:14" "00006" "2020-05-15 17:02:00" "SEQ-ON" "DNA" "" "" "0000241504" "00240394" "1" "00006" "00006" "2019-06-19 16:23:41" "00006" "2020-05-15 17:02:52" "SEQ-ON" "DNA" "" "" "0000241505" "00240395" "1" "00006" "00006" "2019-06-19 16:38:23" "00006" "2020-05-15 17:04:44" "SEQ-ON" "DNA" "" "" "0000241506" "00240396" "1" "00006" "00006" "2019-06-19 16:38:23" "00006" "2020-05-15 17:05:47" "SEQ-ON" "DNA" "" "" "0000241507" "00240397" "1" "00006" "00006" "2019-06-19 16:38:23" "00006" "2020-05-15 17:06:49" "SEQ-ON" "DNA" "" "" "0000241508" "00240398" "1" "00006" "00006" "2019-06-19 16:38:23" "00006" "2020-05-15 17:07:49" "SEQ-ON" "DNA" "" "" "0000241509" "00240399" "1" "00006" "00006" "2019-06-19 16:38:23" "00006" "2020-05-15 17:08:59" "SEQ-ON" "DNA" "" "" "0000241510" "00240400" "1" "00006" "00006" "2019-06-19 16:38:23" "00006" "2020-05-15 17:10:02" "SEQ-ON" "DNA" "" "" "0000241511" "00240401" "1" "00006" "00006" "2019-06-19 16:38:23" "00006" "2020-05-15 17:11:08" "SEQ-ON" "DNA" "" "" "0000302534" "00301413" "1" "00006" "00006" "2020-05-15 13:49:25" "" "" "PCR;PCRrp" "DNA" "" "" "0000302535" "00301414" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-PB" "DNA" "" "" "0000302536" "00301415" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-PB" "DNA" "" "" "0000302537" "00301416" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-PB" "DNA" "" "" "0000302538" "00301417" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-PB" "DNA" "" "" "0000302539" "00301418" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-ON" "DNA" "" "" "0000302540" "00301419" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-ON" "DNA" "" "" "0000302541" "00301420" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-ON" "DNA" "" "" "0000302542" "00301421" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-ON" "DNA" "" "" "0000302543" "00301422" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-ON" "DNA" "" "" "0000302544" "00301423" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-ON" "DNA" "" "" "0000302545" "00301424" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-ON" "DNA" "" "" "0000302546" "00301425" "1" "00006" "00006" "2020-05-15 14:54:01" "" "" "PCR;SEQ-ON" "DNA" "" "" "0000302547" "00301426" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302548" "00301427" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302549" "00301428" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302550" "00301429" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302551" "00301430" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302552" "00301431" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302553" "00301432" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302554" "00301433" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302555" "00301434" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302556" "00301435" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302557" "00301436" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302558" "00301437" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302559" "00301438" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302560" "00301439" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302561" "00301440" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302562" "00301441" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302563" "00301442" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302564" "00301443" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302565" "00301444" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302566" "00301445" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302567" "00301446" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302568" "00301447" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302569" "00301448" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302570" "00301449" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302571" "00301450" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302572" "00301451" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302573" "00301452" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302574" "00301453" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302575" "00301454" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302576" "00301455" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302577" "00301456" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302578" "00301457" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302579" "00301458" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302580" "00301459" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302581" "00301460" "1" "00006" "00006" "2020-05-15 16:10:22" "" "" "PCR;PCRrp" "DNA" "" "" "0000302583" "00301462" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302584" "00301463" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302585" "00301464" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302586" "00301465" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302587" "00301466" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302588" "00301467" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302589" "00301468" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302590" "00301469" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302591" "00301470" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302592" "00301471" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302593" "00301472" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302594" "00301473" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302595" "00301474" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302596" "00301475" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302597" "00301476" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302598" "00301477" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302599" "00301478" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302600" "00301479" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302601" "00301480" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302602" "00301481" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302603" "00301482" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302604" "00301483" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302605" "00301484" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302606" "00301485" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302607" "00301486" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302608" "00301487" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302609" "00301488" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302610" "00301489" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302611" "00301490" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302612" "00301491" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302613" "00301492" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302614" "00301493" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302615" "00301494" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302616" "00301495" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302617" "00301496" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302618" "00301497" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302619" "00301498" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302620" "00301499" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302621" "00301500" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302622" "00301501" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302623" "00301502" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302624" "00301503" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302625" "00301504" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302626" "00301505" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302627" "00301506" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302628" "00301507" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302629" "00301508" "1" "00006" "00006" "2020-05-16 12:03:22" "" "" "SEQ" "DNA" "" "" "0000302695" "00301570" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302696" "00301571" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302697" "00301572" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302698" "00301573" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302699" "00301574" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302700" "00301575" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302701" "00301576" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302702" "00301577" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302703" "00301578" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302704" "00301579" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302705" "00301580" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302706" "00301581" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302707" "00301582" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302708" "00301583" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302709" "00301584" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302710" "00301585" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302711" "00301586" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302712" "00301587" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302713" "00301588" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302714" "00301589" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302715" "00301590" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302716" "00301591" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302717" "00301592" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302718" "00301593" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302719" "00301594" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302720" "00301595" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302721" "00301596" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" "0000302722" "00301597" "1" "00006" "00006" "2020-05-19 08:33:30" "" "" "PCRrp;Southern" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 132 "{{screeningid}}" "{{geneid}}" "0000241503" "NOTCH2NLC" "0000241504" "NOTCH2NLC" "0000241505" "NOTCH2NLC" "0000241506" "NOTCH2NLC" "0000241507" "NOTCH2NLC" "0000241508" "NOTCH2NLC" "0000241509" "NOTCH2NLC" "0000241510" "NOTCH2NLC" "0000241511" "NOTCH2NLC" "0000302534" "NOTCH2NLC" "0000302535" "NOTCH2NLC" "0000302536" "NOTCH2NLC" "0000302537" "NOTCH2NLC" "0000302538" "NOTCH2NLC" "0000302539" "NOTCH2NLC" "0000302540" "NOTCH2NLC" "0000302541" "NOTCH2NLC" "0000302542" "NOTCH2NLC" "0000302543" "NOTCH2NLC" "0000302544" "NOTCH2NLC" "0000302545" "NOTCH2NLC" "0000302546" "NOTCH2NLC" "0000302547" "NOTCH2NLC" "0000302548" "NOTCH2NLC" "0000302549" "NOTCH2NLC" "0000302550" "NOTCH2NLC" "0000302551" "NOTCH2NLC" "0000302552" "NOTCH2NLC" "0000302553" "NOTCH2NLC" "0000302554" "NOTCH2NLC" "0000302555" "NOTCH2NLC" "0000302556" "NOTCH2NLC" "0000302557" "NOTCH2NLC" "0000302558" "NOTCH2NLC" "0000302559" "NOTCH2NLC" "0000302560" "NOTCH2NLC" "0000302561" "NOTCH2NLC" "0000302562" "NOTCH2NLC" "0000302563" "NOTCH2NLC" "0000302564" "NOTCH2NLC" "0000302565" "NOTCH2NLC" "0000302566" "NOTCH2NLC" "0000302567" "NOTCH2NLC" "0000302568" "NOTCH2NLC" "0000302569" "NOTCH2NLC" "0000302570" "NOTCH2NLC" "0000302571" "NOTCH2NLC" "0000302572" "NOTCH2NLC" "0000302573" "NOTCH2NLC" "0000302574" "NOTCH2NLC" "0000302575" "NOTCH2NLC" "0000302576" "NOTCH2NLC" "0000302577" "NOTCH2NLC" "0000302578" "NOTCH2NLC" "0000302579" "NOTCH2NLC" "0000302580" "NOTCH2NLC" "0000302581" "NOTCH2NLC" "0000302583" "NOTCH2NLC" "0000302584" "NOTCH2NLC" "0000302585" "NOTCH2NLC" "0000302586" "NOTCH2NLC" "0000302587" "NOTCH2NLC" "0000302588" "NOTCH2NLC" "0000302589" "NOTCH2NLC" "0000302590" "NOTCH2NLC" "0000302591" "NOTCH2NLC" "0000302592" "NOTCH2NLC" "0000302593" "NOTCH2NLC" "0000302594" "NOTCH2NLC" "0000302595" "NOTCH2NLC" "0000302596" "NOTCH2NLC" "0000302597" "NOTCH2NLC" "0000302598" "NOTCH2NLC" "0000302599" "NOTCH2NLC" "0000302600" "NOTCH2NLC" "0000302601" "NOTCH2NLC" "0000302602" "NOTCH2NLC" "0000302603" "NOTCH2NLC" "0000302604" "NOTCH2NLC" "0000302605" "NOTCH2NLC" "0000302606" "NOTCH2NLC" "0000302607" "NOTCH2NLC" "0000302608" "NOTCH2NLC" "0000302609" "NOTCH2NLC" "0000302610" "NOTCH2NLC" "0000302611" "NOTCH2NLC" "0000302612" "NOTCH2NLC" "0000302613" "NOTCH2NLC" "0000302614" "NOTCH2NLC" "0000302615" "NOTCH2NLC" "0000302616" "NOTCH2NLC" "0000302617" "NOTCH2NLC" "0000302618" "NOTCH2NLC" "0000302619" "NOTCH2NLC" "0000302620" "NOTCH2NLC" "0000302621" "NOTCH2NLC" "0000302622" "NOTCH2NLC" "0000302623" "NOTCH2NLC" "0000302624" "NOTCH2NLC" "0000302625" "NOTCH2NLC" "0000302626" "NOTCH2NLC" "0000302627" "NOTCH2NLC" "0000302628" "NOTCH2NLC" "0000302629" "NOTCH2NLC" "0000302695" "NOTCH2NLC" "0000302696" "NOTCH2NLC" "0000302697" "NOTCH2NLC" "0000302698" "NOTCH2NLC" "0000302699" "NOTCH2NLC" "0000302700" "NOTCH2NLC" "0000302701" "NOTCH2NLC" "0000302702" "NOTCH2NLC" "0000302703" "NOTCH2NLC" "0000302704" "NOTCH2NLC" "0000302705" "NOTCH2NLC" "0000302706" "NOTCH2NLC" "0000302707" "NOTCH2NLC" "0000302708" "NOTCH2NLC" "0000302709" "NOTCH2NLC" "0000302710" "NOTCH2NLC" "0000302711" "NOTCH2NLC" "0000302712" "NOTCH2NLC" "0000302713" "NOTCH2NLC" "0000302714" "NOTCH2NLC" "0000302715" "NOTCH2NLC" "0000302716" "NOTCH2NLC" "0000302717" "NOTCH2NLC" "0000302718" "NOTCH2NLC" "0000302719" "NOTCH2NLC" "0000302720" "NOTCH2NLC" "0000302721" "NOTCH2NLC" "0000302722" "NOTCH2NLC" ## 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 = 183 "{{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}}" "0000487504" "1" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000001" "g.?" "" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(294_666)" "" "pathogenic" "" "0000487505" "1" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000001" "g.?" "" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(561_633)" "" "pathogenic" "" "0000487506" "21" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000001" "g.?" "" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "" "" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(300_?)" "" "pathogenic" "" "0000487507" "1" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000001" "g.?" "" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(321_408)" "" "pathogenic" "" "0000487508" "1" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000001" "g.?" "" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(246_342)" "" "pathogenic" "" "0000487509" "11" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000001" "g.?" "" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "" "" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(300_?)" "" "pathogenic" "" "0000487510" "11" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000001" "g.?" "" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "" "" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(300_?)" "" "pathogenic" "" "0000487511" "11" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000001" "g.?" "" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "" "" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(300_?)" "" "pathogenic" "" "0000487512" "1" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000001" "g.?" "" "{PMID:Tian 2019:31178126}, {DOI:Tian 2019:10.1016/j.ajhg.2019.05.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(342_447)" "" "pathogenic" "" "0000665824" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000002" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[19], GGC[16]GGA[1]GGC[2]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[16]GGA[1]GGC[2]" "" "benign" "" "0000665825" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000003" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[177], (GGC)131(GGA)3(GGC)3{(GGA)3(GGC)2}7(GGC)5" "" "Germline" "yes" "" "0" "" "" "g.149390803_149390841GGC[131]GGA[3]GGC[3[GGA[3]GGC[2]][7]GGC[5]" "" "pathogenic" "" "0000665826" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000003" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[150], (GGC)85{(GGA)3(GGC)2}12(GGC)5" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[85][GGA[3]GGC[2]][12]GGC[5]" "" "pathogenic (dominant)" "" "0000665827" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000004" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[199], (GGC)52{(GGA)2(GGC)4}23(GGA)2(GGC)3(GGA)2(GGC)2" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[52][GGA[2]GGC[4]][23]GGA[2]GGC[3]GGA[2]GGC[2]" "" "pathogenic (dominant)" "" "0000665828" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000005" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[139], (GGC)91{(GGA)(GGC)2}16(GGC)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[91][GGA[1]GGC[2]][16]GGC[1]" "" "pathogenic (dominant)" "" "0000665829" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000006" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[230], GGC[230]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[230]" "" "pathogenic (dominant)" "" "0000665830" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000007" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[131], GGC[131]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[131]" "" "pathogenic (dominant)" "" "0000665831" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000008" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[127], GGC[124]GGA[1]GGC[2]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[124]GGA[1]GGC[2]" "" "pathogenic (dominant)" "" "0000665832" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000009" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[143], GGC[139]GGA[2]GGC[2]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[139]GGA[2]GGC[2]" "" "pathogenic (dominant)" "" "0000665833" "3" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000010" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[93], GGC[93]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[93]" "" "pathogenic (dominant)" "" "0000665834" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000011" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[112], GGC[112]" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149390803_149390841GGC[112]" "" "pathogenic (dominant)" "" "0000665835" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000012" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[121], GGC[121]" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149390803_149390841GGC[121]" "" "pathogenic (dominant)" "" "0000665836" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000013" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[135], (GGC)44(GGA)(GGC){(GGA)(GGC)4}2{(GGA)2(GGC)3}15(GGA)2(GGC)2" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149390803_149390841GGC[44]GGA[1]GGC[1][GGA[1]GGC[4]]2[GGA[2]GGC[3]][15]GGA[2]GGC[2]" "" "pathogenic (dominant)" "" "0000665837" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000014" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[19], GGC[15]GGA[2]GGC[2]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[15]GGA[2]GGC[2]" "" "benign" "" "0000665838" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000015" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[15], GGC[11]GGA[3]GGC[1]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[11]GGA[3]GGC[1]" "" "benign" "" "0000665839" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000016" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[19]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGM[19]" "" "benign" "" "0000665840" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000017" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[20]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGM[20]" "" "benign" "" "0000665841" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000018" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[15]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGM[15]" "" "benign" "" "0000665842" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000017" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[20]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGM[20]" "" "benign" "" "0000665843" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000017" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[20]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGM[20]" "" "benign" "" "0000665845" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000018" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[15]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGM[15]" "" "benign" "" "0000665846" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000018" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[15]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGM[15]" "" "benign" "" "0000665847" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000020" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[30]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGM[30]" "" "benign" "" "0000665848" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000017" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[20]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGM[20]" "" "benign" "" "0000665849" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000021" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[142]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGM[142]" "" "pathogenic" "" "0000665850" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000038" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[121]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(363)" "" "pathogenic" "" "0000665851" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000028" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[99]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(297)" "" "pathogenic" "" "0000665852" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000036" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[118]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(354)" "" "pathogenic" "" "0000665853" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000044" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[136]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(408)" "" "pathogenic" "" "0000665854" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000027" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[98]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(294)" "" "pathogenic" "" "0000665855" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000029" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[102]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(306)" "" "pathogenic" "" "0000665856" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000032" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[109]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(327)" "" "pathogenic" "" "0000665857" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000033" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[111]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(333)" "" "pathogenic" "" "0000665858" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000025" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[94]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(282)" "" "pathogenic" "" "0000665859" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000040" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[125]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(375)" "" "pathogenic" "" "0000665860" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000043" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[134]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(402)" "" "pathogenic" "" "0000665861" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000041" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[128]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(384)" "" "pathogenic" "" "0000665862" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000035" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[117]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(351)" "" "pathogenic" "" "0000665863" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000023" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[90]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(270)" "" "pathogenic" "" "0000665864" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000031" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[105]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(315)" "" "pathogenic" "" "0000665865" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000022" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[84]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(252)" "" "pathogenic" "" "0000665866" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000039" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[122]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(366)" "" "pathogenic" "" "0000665867" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000040" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[125]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(375)" "" "pathogenic" "" "0000665868" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000038" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[121]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(363)" "" "pathogenic" "" "0000665869" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000026" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[95]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(285)" "" "pathogenic" "" "0000665870" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000035" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[117]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(351)" "" "pathogenic" "" "0000665871" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000030" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[104]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(312)" "" "pathogenic" "" "0000665872" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000024" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[93]" "" "De novo" "" "" "0" "" "" "g.(149390803_149390841)ins(279)" "" "pathogenic" "" "0000665873" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000026" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[95]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(285)" "" "pathogenic" "" "0000665874" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000042" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[130]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(390)" "" "pathogenic" "" "0000665875" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000045" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[87]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(261)" "" "pathogenic" "" "0000665876" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000037" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[119]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(357)" "" "pathogenic" "" "0000665877" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000031" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[105]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(315)" "" "pathogenic" "" "0000665878" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000039" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[122]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(366)" "" "pathogenic" "" "0000665879" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000037" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[119]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(357)" "" "pathogenic" "" "0000665880" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000038" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[121]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(363)" "" "pathogenic" "" "0000665881" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000028" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[99]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(297)" "" "pathogenic" "" "0000665882" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000035" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[117]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(351)" "" "pathogenic" "" "0000665883" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000034" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[112]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(336)" "" "pathogenic" "" "0000665884" "2" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000046" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[138]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(414)" "" "pathogenic" "" "0000665885" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000057" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[27]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(81)" "" "benign" "" "0000665886" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000053" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[23]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(69)" "" "benign" "" "0000665887" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000051" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[20]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(60)" "" "benign" "" "0000665888" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000052" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[22]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(66)" "" "benign" "" "0000665889" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000047" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[10]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)del(9)" "" "benign" "" "0000665890" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000052" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[22]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(66)" "" "benign" "" "0000665891" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000056" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[26]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(78)" "" "benign" "" "0000665892" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000049" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[15]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(45)" "" "benign" "" "0000665893" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000056" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[26]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(78)" "" "benign" "" "0000665894" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000050" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[19]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(57)" "" "benign" "" "0000665895" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000048" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[14]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(42)" "" "benign" "" "0000665896" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000051" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[20]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(60)" "" "benign" "" "0000665897" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000056" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[26]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(78)" "" "benign" "" "0000665898" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000059" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[13]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841=" "" "benign" "" "0000665899" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000049" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[15]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(45)" "" "benign" "" "0000665900" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000058" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[28]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(84)" "" "benign" "" "0000665901" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000050" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[18]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(54)" "" "benign" "" "0000665902" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000052" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[22]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(66)" "" "benign" "" "0000665903" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000054" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[24]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(72)" "" "benign" "" "0000665904" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000051" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[20]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(60)" "" "benign" "" "0000665905" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000054" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[24]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(72)" "" "benign" "" "0000665906" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000051" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[20]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(60)" "" "benign" "" "0000665907" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000051" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[20]" "" "De novo" "" "" "0" "" "" "g.(149390803_149390841)ins(60)" "" "benign" "" "0000665908" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000054" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[24]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(72)" "" "benign" "" "0000665909" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000055" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[25]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(75)" "" "benign" "" "0000665910" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000050" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[19]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(57)" "" "benign" "" "0000665911" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000052" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[21]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(63)" "" "benign" "" "0000665912" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000056" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[26]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(78)" "" "benign" "" "0000665913" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000052" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[22]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(66)" "" "benign" "" "0000665914" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000054" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[24]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(72)" "" "benign" "" "0000665915" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000050" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[19]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(57)" "" "benign" "" "0000665916" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000052" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[22]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(66)" "" "benign" "" "0000665917" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000049" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[15]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(45)" "" "benign" "" "0000665918" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000049" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[15]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(45)" "" "benign" "" "0000665919" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000051" "g.?" "" "{PMID:Sone 2019:31332381}" "" "GGM[20]" "" "Germline" "" "" "0" "" "" "g.(149390803_149390841)ins(60)" "" "benign" "" "0000665921" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000060" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)7(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[7]GGA[2]GGC[1]" "" "benign" "" "0000665922" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000061" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)8" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[8]" "" "benign" "" "0000665923" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000062" "g.?" "14/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)9(AGG)3" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[9]GGA[3]" "" "benign" "" "0000665924" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000063" "g.?" "4/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)9(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[9]GGA[2]GGC[1]" "" "benign" "" "0000665925" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000064" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)11(AGG)2" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[11]GGA[2]" "" "benign" "" "0000665926" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000065" "g.?" "3/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)11(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[11]GGA[2]GGC[1]" "" "benign" "" "0000665927" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000066" "g.?" "80/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)11(AGG)3" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[11]GGA[3]" "" "benign" "" "0000665928" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000067" "g.?" "3/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)12(AGG)3" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[12]GGA[3]" "" "benign" "" "0000665929" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000068" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)12" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[12]" "" "benign" "" "0000665930" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000069" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)12(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[12]GGA[2]GGC[1]" "" "benign" "" "0000665931" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000070" "g.?" "3/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)13(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[13]GGA[2]GGC[1]" "" "benign" "" "0000665932" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000071" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)14" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[14]" "" "benign" "" "0000665933" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000072" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)14(AGG)3" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[14]GGA[3]" "" "benign" "" "0000665934" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000073" "g.?" "6/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)14(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[14]GGA[2]GGC[1]" "" "benign" "" "0000665935" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000074" "g.?" "25/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)15(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[15]GGA[2]GGC[1]" "" "benign" "" "0000665936" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000075" "g.?" "4/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)16(AGG)(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[16]GGA[1]GGC[1]" "" "benign" "" "0000665937" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000002" "g.?" "2/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "GGM[19], (AGG)(CGG)16(AGG)GGC[2]" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[16]GGA[1]GGC[2]" "" "benign" "" "0000665938" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000076" "g.?" "83/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)16(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[16]GGA[2]GGC[1]" "" "benign" "" "0000665939" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000077" "g.?" "2/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)17" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[17]" "" "benign" "" "0000665940" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000078" "g.?" "17/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)17(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[17]GGA[2]GGC[1]" "" "benign" "" "0000665941" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000079" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)18(AGG)2(CGG)3(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[18]GGA[2]GGC[3]GGA[2]GGC[1]" "" "benign" "" "0000665942" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000080" "g.?" "45/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)18(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[18]GGA[2]GGC[1]" "" "benign" "" "0000665943" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000081" "g.?" "2/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)19(AGG)(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[19]GGA[1]GGC[1]" "" "benign" "" "0000665944" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000082" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)19(AGG)GGC[2" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[19]GGA[1]GGC[2]" "" "benign" "" "0000665945" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000083" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)19(AGG)2(CGG)2(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[19]GGA[2]GGC[2]GGA[2]GGC[1]" "" "benign" "" "0000665946" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000084" "g.?" "18/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)19(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[19]GGA[2]GGC[1]" "" "benign" "" "0000665947" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000085" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)20(AGG)(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[20]GGA[1]GGC[1]" "" "benign" "" "0000665948" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000086" "g.?" "8/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)20(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[20]GGA[2]GGC[1]" "" "benign" "" "0000665949" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000087" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)21(AGG)3(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[21]GGA[3]GGC[1]" "" "benign" "" "0000665950" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000088" "g.?" "8/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)21(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[21]GGA[2]GGC[1]" "" "benign" "" "0000665951" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000089" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)22(AGG)(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[22]GGA[1]GGC[1]" "" "benign" "" "0000665952" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000090" "g.?" "3/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)22(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[22]GGA[2]GGC[1]" "" "benign" "" "0000665953" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000091" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)23(AGG)3(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[23]GGA[3]GGC[1]" "" "benign" "" "0000665954" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000092" "g.?" "2/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)23(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[23]GGA[2]GGC[1]" "" "benign" "" "0000665955" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000093" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)24(AGG)(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[24]GGA[1]GGC[1]" "" "benign" "" "0000665956" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000094" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)24(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[24]GGA[2]GGC[1]" "" "benign" "" "0000665957" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000095" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)25(AGG)3(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[25]GGA[3]GGC[1]" "" "benign" "" "0000665958" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000096" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)25(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[25]GGA[2]GGC[1]" "" "benign" "" "0000665959" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000097" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)26(AGG)3(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[26]GGA[3]GGC[1]" "" "benign" "" "0000665960" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000098" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)26" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[26]" "" "benign" "" "0000665961" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000099" "g.?" "2/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)26(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[26]GGA[2]GGC[1]" "" "benign" "" "0000665962" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000100" "g.?" "4/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)27(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[27]GGA[2]GGC[1]" "" "benign" "" "0000665963" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000101" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)28(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[28]GGA[2]GGC[1]" "" "benign" "" "0000665964" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000102" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)29(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[29]GGA[2]GGC[1]" "" "benign" "" "0000665965" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000103" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)30(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[30]GGA[2]GGC[1]" "" "benign" "" "0000665966" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000104" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)34(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[34]GGA[2]GGC[1]" "" "benign" "" "0000665967" "0" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000105" "g.?" "1/364 control chromosomes" "{PMID:Ishihura 2019:31332380}" "" "(AGG)(CGG)35(AGG)2(CGG)" "" "Germline" "" "" "0" "" "" "g.149390803_149390841GGC[35]GGA[2]GGC[1]" "" "benign" "" "0000665968" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000106" "g.?" "" "{PMID:Ishihura 2019:31332380}" "" "" "" "Germline" "" "rs1258206224" "0" "" "" "g.149390847A>G" "" "benign" "" "0000665969" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000109" "g.?" "" "{PMID:Ishihura 2019:31332380}" "" "" "" "Germline" "" "rs1172135200" "0" "" "" "g.149390779C>T" "" "benign" "" "0000665970" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000108" "g.?" "" "{PMID:Ishihura 2019:31332380}" "" "" "" "Germline" "" "rs1436954367" "0" "" "" "g.149390858G>T" "" "benign" "" "0000665971" "1" "10" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000107" "g.?" "" "{PMID:Ishihura 2019:31332380}" "" "" "" "Germline" "" "rs1376391857" "0" "" "" "g.149390859C>T" "" "benign" "" "0000666040" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666041" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666042" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666043" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666044" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666045" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666046" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666047" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666048" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666049" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666050" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666051" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666052" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666053" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666054" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666055" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666056" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666057" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666058" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666059" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666060" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666061" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666062" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666063" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666064" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666065" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666066" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" "0000666067" "0" "90" "1" "0" "0" "" "0" "00006" "NOTCH2NLC_000110" "g.?" "" "{PMID:Ishiura 2019:31332380}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(149390803_149390841)ins(270_540)" "" "pathogenic (dominant)" "" ## 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 NOTCH2NLC ## Count = 183 "{{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}}" "0000487504" "00025417" "90" "-164" "0" "-126" "0" "c.(-164_-126)insN[(294_666)]" "r.?" "p.?" "" "0000487505" "00025417" "90" "-164" "0" "-126" "0" "c.(-164_-126)insN[(561_633)]" "r.?" "p.?" "" "0000487506" "00025417" "90" "-164" "0" "-126" "0" "c.(-164_-126)insN[(300_?)]" "r.?" "p.?" "" "0000487507" "00025417" "90" "-164" "0" "-126" "0" "c.(-164_-126)insN[(321_408)]" "r.?" "p.?" "" "0000487508" "00025417" "90" "-164" "0" "-126" "0" "c.(-164_-126)insN[(246_342)]" "r.?" "p.?" "" "0000487509" "00025417" "90" "-164" "0" "-126" "0" "c.(-164_-126)insN[(300_?)]" "r.?" "p.?" "" "0000487510" "00025417" "90" "-164" "0" "-126" "0" "c.(-164_-126)insN[(300_?)]" "r.?" "p.?" "" "0000487511" "00025417" "90" "-164" "0" "-126" "0" "c.(-164_-126)insN[(300_?)]" "r.?" "p.?" "" "0000487512" "00025417" "90" "-164" "0" "-126" "0" "c.(-164_-126)insN[(342_447)]" "r.?" "p.?" "" "0000665824" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[16]GGA[1]GGC[2]" "r.?" "p.?" "" "0000665825" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126GGC[131]GGA[3]GGC[3[GGA[3]GGC[2]][7]GGC[5]" "r.?" "p.?" "" "0000665826" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[85][GGA[3]GGC[2]][12]GGC[5]" "r.(?)" "p.(=)" "" "0000665827" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[52][GGA[2]GGC[4]][23]GGA[2]GGC[3]GGA[2]GGC[2]" "r.(?)" "p.(=)" "" "0000665828" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[91][GGA[1]GGC[2]][16]GGC[1]" "r.(?)" "p.(=)" "" "0000665829" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[230]" "r.(?)" "p.(=)" "" "0000665830" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[131]" "r.(?)" "p.(=)" "" "0000665831" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[124]GGA[1]GGC[2]" "r.(?)" "p.(=)" "" "0000665832" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[139]GGA[2]GGC[2]" "r.(?)" "p.(=)" "" "0000665833" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[93]" "r.(?)" "p.(=)" "" "0000665834" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[112]" "r.(?)" "p.(=)" "" "0000665835" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[121]" "r.(?)" "p.(=)" "" "0000665836" "00025417" "90" "-156" "0" "-118" "0" "c.-156_-118GGC[44]GGA[1]GGC[1][GGA[1]GGC[4]]2[GGA[2]GGC[3]][15]GGA[2]GGC[2]" "r.(?)" "p.(=)" "" "0000665837" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[15]GGA[2]GGC[2]" "r.?" "p.?" "" "0000665838" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[11]GGA[3]GGC[1]" "r.?" "p.?" "" "0000665839" "00025417" "10" "0" "0" "0" "0" "c.-164_-126GGM[19]" "r.?" "p.?" "" "0000665840" "00025417" "10" "0" "0" "0" "0" "c.-164_-126GGM[20]" "r.?" "p.?" "" "0000665841" "00025417" "10" "0" "0" "0" "0" "c.-164_-126GGM[15]" "r.?" "p.?" "" "0000665842" "00025417" "10" "0" "0" "0" "0" "c.-164_-126GGM[20]" "r.?" "p.?" "" "0000665843" "00025417" "10" "0" "0" "0" "0" "c.-164_-126GGM[20]" "r.?" "p.?" "" "0000665845" "00025417" "10" "0" "0" "0" "0" "c.-164_-126GGM[15]" "r.?" "p.?" "" "0000665846" "00025417" "10" "0" "0" "0" "0" "c.-164_-126GGM[15]" "r.?" "p.?" "" "0000665847" "00025417" "10" "0" "0" "0" "0" "c.-164_-126GGM[30]" "r.?" "p.?" "" "0000665848" "00025417" "10" "0" "0" "0" "0" "c.-164_-126GGM[20]" "r.?" "p.?" "" "0000665849" "00025417" "90" "0" "0" "0" "0" "c.-164_-126GGM[142]" "r.?" "p.?" "" "0000665850" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[363]" "r.(?)" "p.(=)" "" "0000665851" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[297]" "r.(?)" "p.(=)" "" "0000665852" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[354]" "r.(?)" "p.(=)" "" "0000665853" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[408]" "r.(?)" "p.(=)" "" "0000665854" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[294]" "r.(?)" "p.(=)" "" "0000665855" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[306]" "r.(?)" "p.(=)" "" "0000665856" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[327]" "r.(?)" "p.(=)" "" "0000665857" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[333]" "r.(?)" "p.(=)" "" "0000665858" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[282]" "r.(?)" "p.(=)" "" "0000665859" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[375]" "r.(?)" "p.(=)" "" "0000665860" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[402]" "r.(?)" "p.(=)" "" "0000665861" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[384]" "r.(?)" "p.(=)" "" "0000665862" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[351]" "r.(?)" "p.(=)" "" "0000665863" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[270]" "r.(?)" "p.(=)" "" "0000665864" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[315]" "r.(?)" "p.(=)" "" "0000665865" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[252]" "r.(?)" "p.(=)" "" "0000665866" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[366]" "r.(?)" "p.(=)" "" "0000665867" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[375]" "r.(?)" "p.(=)" "" "0000665868" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[363]" "r.(?)" "p.(=)" "" "0000665869" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[285]" "r.(?)" "p.(=)" "" "0000665870" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[351]" "r.(?)" "p.(=)" "" "0000665871" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[312]" "r.(?)" "p.(=)" "" "0000665872" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[279]" "r.(?)" "p.(=)" "" "0000665873" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[285]" "r.(?)" "p.(=)" "" "0000665874" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[390]" "r.(?)" "p.(=)" "" "0000665875" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[261]" "r.(?)" "p.(=)" "" "0000665876" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[357]" "r.(?)" "p.(=)" "" "0000665877" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[315]" "r.(?)" "p.(=)" "" "0000665878" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[366]" "r.(?)" "p.(=)" "" "0000665879" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[357]" "r.(?)" "p.(=)" "" "0000665880" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[363]" "r.(?)" "p.(=)" "" "0000665881" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[297]" "r.(?)" "p.(=)" "" "0000665882" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[351]" "r.(?)" "p.(=)" "" "0000665883" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[336]" "r.(?)" "p.(=)" "" "0000665884" "00025417" "90" "-164" "0" "-126" "0" "c.-164_-126insN[414]" "r.(?)" "p.(=)" "" "0000665885" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[81]" "r.(?)" "p.(=)" "" "0000665886" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[69]" "r.(?)" "p.(=)" "" "0000665887" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[60]" "r.(?)" "p.(=)" "" "0000665888" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[66]" "r.(?)" "p.(=)" "" "0000665889" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126del(9)" "r.(?)" "p.(=)" "" "0000665890" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[66]" "r.(?)" "p.(=)" "" "0000665891" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[78]" "r.(?)" "p.(=)" "" "0000665892" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[45]" "r.(?)" "p.(=)" "" "0000665893" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[78]" "r.(?)" "p.(=)" "" "0000665894" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[57]" "r.(?)" "p.(=)" "" "0000665895" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[42]" "r.(?)" "p.(=)" "" "0000665896" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[60]" "r.(?)" "p.(=)" "" "0000665897" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[78]" "r.(?)" "p.(=)" "" "0000665898" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126=" "r.(?)" "p.(=)" "" "0000665899" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[45]" "r.(?)" "p.(=)" "" "0000665900" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[84]" "r.(?)" "p.(=)" "" "0000665901" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[54]" "r.(?)" "p.(=)" "" "0000665902" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[66]" "r.(?)" "p.(=)" "" "0000665903" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[72]" "r.(?)" "p.(=)" "" "0000665904" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[60]" "r.(?)" "p.(=)" "" "0000665905" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[72]" "r.(?)" "p.(=)" "" "0000665906" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[60]" "r.(?)" "p.(=)" "" "0000665907" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[60]" "r.(?)" "p.(=)" "" "0000665908" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[72]" "r.(?)" "p.(=)" "" "0000665909" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[75]" "r.(?)" "p.(=)" "" "0000665910" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[57]" "r.(?)" "p.(=)" "" "0000665911" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[63]" "r.(?)" "p.(=)" "" "0000665912" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[78]" "r.(?)" "p.(=)" "" "0000665913" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[66]" "r.(?)" "p.(=)" "" "0000665914" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[72]" "r.(?)" "p.(=)" "" "0000665915" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[57]" "r.(?)" "p.(=)" "" "0000665916" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[66]" "r.(?)" "p.(=)" "" "0000665917" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[45]" "r.(?)" "p.(=)" "" "0000665918" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[45]" "r.(?)" "p.(=)" "" "0000665919" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126insN[60]" "r.(?)" "p.(=)" "" "0000665921" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[7]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665922" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[8]" "r.(?)" "p.(=)" "" "0000665923" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[9]GGA[3]" "r.(?)" "p.(=)" "" "0000665924" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[9]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665925" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[11]GGA[2]" "r.(?)" "p.(=)" "" "0000665926" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[11]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665927" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[11]GGA[3]" "r.(?)" "p.(=)" "" "0000665928" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[12]GGA[3]" "r.(?)" "p.(=)" "" "0000665929" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[12]" "r.(?)" "p.(=)" "" "0000665930" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[12]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665931" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[13]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665932" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[14]" "r.(?)" "p.(=)" "" "0000665933" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[14]GGA[3]" "r.(?)" "p.(=)" "" "0000665934" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[14]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665935" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[15]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665936" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[16]GGA[1]GGC[1]" "r.(?)" "p.(=)" "" "0000665937" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[16]GGA[1]GGC[2]" "r.(?)" "p.(=)" "" "0000665938" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[16]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665939" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[17]" "r.(?)" "p.(=)" "" "0000665940" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[17]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665941" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[18]GGA[2]GGC[3]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665942" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[18]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665943" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[19]GGA[1]GGC[1]" "r.(?)" "p.(=)" "" "0000665944" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[19]GGA[1]GGC[2]" "r.(?)" "p.(=)" "" "0000665945" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[19]GGA[2]GGC[2]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665946" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[19]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665947" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[20]GGA[1]GGC[1]" "r.(?)" "p.(=)" "" "0000665948" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[20]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665949" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[21]GGA[3]GGC[1]" "r.(?)" "p.(=)" "" "0000665950" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[21]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665951" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[22]GGA[1]GGC[1]" "r.(?)" "p.(=)" "" "0000665952" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[22]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665953" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[23]GGA[3]GGC[1]" "r.(?)" "p.(=)" "" "0000665954" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[23]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665955" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[24]GGA[1]GGC[1]" "r.(?)" "p.(=)" "" "0000665956" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[24]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665957" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[25]GGA[3]GGC[1]" "r.(?)" "p.(=)" "" "0000665958" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[25]GGA[2]GGC[1]" "r.(?)" "p.(=)" "" "0000665959" "00025417" "10" "-164" "0" "-126" "0" "c.-164_-126GGC[26]GGA[3]GGC[1]" "r.(?)" 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"p.(=)" "1" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 183 "{{screeningid}}" "{{variantid}}" "0000241503" "0000487504" "0000241504" "0000487505" "0000241505" "0000487506" "0000241506" "0000487507" "0000241507" "0000487508" "0000241508" "0000487509" "0000241509" "0000487510" "0000241510" "0000487511" "0000241511" "0000487512" "0000302534" "0000665824" "0000302534" "0000665825" "0000302535" "0000665826" "0000302535" "0000665839" "0000302536" "0000665827" "0000302536" "0000665837" "0000302537" "0000665828" "0000302537" "0000665840" "0000302538" "0000665829" "0000302538" "0000665841" "0000302539" "0000665830" "0000302539" "0000665842" "0000302540" "0000665831" "0000302540" "0000665843" "0000302541" "0000665832" "0000302541" "0000665838" "0000302542" "0000665833" "0000302543" "0000665834" "0000302543" "0000665845" "0000302544" "0000665835" "0000302544" "0000665846" "0000302545" "0000665836" "0000302545" "0000665847" "0000302546" "0000665848" "0000302546" "0000665849" "0000302547" "0000665850" "0000302547" "0000665885" "0000302548" "0000665851" "0000302548" "0000665886" "0000302549" "0000665852" "0000302549" "0000665887" "0000302550" "0000665853" "0000302550" "0000665888" "0000302551" "0000665854" "0000302551" "0000665889" "0000302552" "0000665855" "0000302552" "0000665890" "0000302553" "0000665856" "0000302553" "0000665891" "0000302554" "0000665857" "0000302554" "0000665892" "0000302555" "0000665858" "0000302555" "0000665893" "0000302556" "0000665859" "0000302556" "0000665894" "0000302557" "0000665860" "0000302557" "0000665895" "0000302558" "0000665861" "0000302558" "0000665896" "0000302559" "0000665862" "0000302559" "0000665897" "0000302560" "0000665863" "0000302560" "0000665898" "0000302561" "0000665864" "0000302561" "0000665899" "0000302562" "0000665865" "0000302562" "0000665900" "0000302563" "0000665866" "0000302563" "0000665901" "0000302564" "0000665867" "0000302564" "0000665902" "0000302565" "0000665868" "0000302565" "0000665903" "0000302566" "0000665869" "0000302566" "0000665904" "0000302567" "0000665870" "0000302567" "0000665905" "0000302568" "0000665871" "0000302568" "0000665906" "0000302569" "0000665872" "0000302569" "0000665907" "0000302570" "0000665873" "0000302570" "0000665908" "0000302571" "0000665874" "0000302571" "0000665909" "0000302572" "0000665875" "0000302572" "0000665910" "0000302573" "0000665876" "0000302573" "0000665911" "0000302574" "0000665877" "0000302574" "0000665912" "0000302575" "0000665878" "0000302575" "0000665913" "0000302576" "0000665879" "0000302576" "0000665914" "0000302577" "0000665880" "0000302577" "0000665915" "0000302578" "0000665881" "0000302578" "0000665916" "0000302579" "0000665882" "0000302579" "0000665917" "0000302580" "0000665883" "0000302580" "0000665918" "0000302581" "0000665884" "0000302581" "0000665919" "0000302583" "0000665921" "0000302583" "0000665968" "0000302584" "0000665922" "0000302585" "0000665923" "0000302585" "0000665969" "0000302585" "0000665970" "0000302585" "0000665971" "0000302586" "0000665924" "0000302587" "0000665925" "0000302588" "0000665926" "0000302589" "0000665927" "0000302590" "0000665928" "0000302591" "0000665929" "0000302592" "0000665930" "0000302593" "0000665931" "0000302594" "0000665932" "0000302595" "0000665933" "0000302596" "0000665934" "0000302597" "0000665935" "0000302598" "0000665936" "0000302599" "0000665937" "0000302600" "0000665938" "0000302601" "0000665939" "0000302602" "0000665940" "0000302603" "0000665941" "0000302604" "0000665942" "0000302605" "0000665943" "0000302606" "0000665944" "0000302607" "0000665945" "0000302608" "0000665946" "0000302609" "0000665947" "0000302610" "0000665948" "0000302611" "0000665949" "0000302612" "0000665950" "0000302613" "0000665951" "0000302614" "0000665952" "0000302615" "0000665953" "0000302616" "0000665954" "0000302617" "0000665955" "0000302618" "0000665956" "0000302619" "0000665957" "0000302620" "0000665958" "0000302621" "0000665959" "0000302622" "0000665960" "0000302623" "0000665961" "0000302624" "0000665962" "0000302625" "0000665963" "0000302626" "0000665964" "0000302627" "0000665965" "0000302628" "0000665966" "0000302629" "0000665967" "0000302695" "0000666040" "0000302696" "0000666041" "0000302697" "0000666042" "0000302698" "0000666043" "0000302699" "0000666044" "0000302700" "0000666045" "0000302701" "0000666046" "0000302702" "0000666047" "0000302703" "0000666048" "0000302704" "0000666049" "0000302705" "0000666050" "0000302706" "0000666051" "0000302707" "0000666052" "0000302708" "0000666053" "0000302709" "0000666054" "0000302710" "0000666055" "0000302711" "0000666056" "0000302712" "0000666057" "0000302713" "0000666058" "0000302714" "0000666059" "0000302715" "0000666060" "0000302716" "0000666061" "0000302717" "0000666062" "0000302718" "0000666063" "0000302719" "0000666064" "0000302720" "0000666065" "0000302721" "0000666066" "0000302722" "0000666067"