### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMAD9) # 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}}" "SMAD9" "SMAD family member 9" "13" "q12-q14" "unknown" "NG_016963.1" "UD_132118285123" "" "https://www.LOVD.nl/SMAD9" "" "1" "6774" "4093" "603295" "1" "1" "1" "1" "Alias SMAD8.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SMAD9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-28 11:29:45" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024181" "SMAD9" "transcript variant a" "002" "NM_001127217.2" "" "NP_001120689.1" "" "" "" "-343" "5249" "1404" "37494409" "37418968" "00006" "2016-10-13 19:45:35" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00315" "cancer, bladder" "cancer, bladder" "" "109800" "" "" "" "00006" "2014-01-28 14:01:22" "" "" "00316" "cancer, brain" "cancer, brain" "" "" "" "" "" "00006" "2014-01-28 14:04:04" "00006" "2015-12-08 23:59:30" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00423" "-" "cancer, endometrial" "AD;SMu" "608089" "" "" "" "00006" "2014-06-18 09:01:15" "00006" "2021-12-10 21:51:32" "00639" "cancer, lung" "cancer, lung (adenocarcinoma)" "" "211980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00926" "melanoma" "melanoma" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-24 11:48:38" "01183" "BAVM" "arteriovenous malformation, cerebral, brain (BAVM" "" "108010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-11 15:49:56" "01484" "-" "osteoporosis" "AD" "166710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01515" "JPS" "polyposis syndrome, juvenile (JPS)" "AD" "174900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02107" "HNSCC" "carcinoma, squamous cell, head and neck (HNSCC)" "AR" "275355" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03237" "ALL" "leukemia, lymphoid, acute (ALL)" "" "613065" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "03897" "PPH2" "hypertension, pulmonary, primary, type 2 (PPH-2)" "AD" "615342" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05089" "NMTC" "cancer, thyroid, nonmedullary (NMTC)" "" "" "" "" "" "00006" "2015-10-23 12:27:27" "" "" "05154" "cancer, skin" "cancer, skin" "" "" "" "" "" "00006" "2016-04-14 15:55:23" "" "" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "05487" "cancer, rectal" "cancer, rectal" "" "" "" "" "" "00006" "2018-10-25 09:29:33" "" "" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05496" "cancer, kidney" "cancer, kidney" "" "" "" "" "" "00006" "2018-11-02 15:54:45" "" "" "05746" "OPTA" "osteopetrosis, autosomal dominant (OPTA)" "AD" "" "" "" "" "00006" "2020-05-18 09:27:27" "" "" "05985" "hypertension" "hypertension" "AD" "" "" "" "" "00006" "2021-11-08 09:15:28" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SMAD9" "03897" ## Individuals ## Do not remove or alter this header ## ## Count = 55 "{{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}}" "00081427" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00290925" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290926" "" "" "" "231" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290927" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304408" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00386957" "" "" "" "1" "" "04141" "{PMID:Shintani 2009:19211612}" "3-generation family, 1 affected, unaffected heterozygous carrier father" "M" "no" "Japan" "" "0" "" "epoprostenol, continuous intravenous prostacyclin" "Unknown" "Pat14" "00387364" "" "" "" "1" "" "04141" "{PMID:Drake 2011:21920918}" "" "F" "?" "United States" "?" "0" "" "" "" "HPAH-3" "00387685" "" "" "" "1" "" "04141" "{PMID:Nasim 2011:21898662}" "" "F" "" "Japan" "" "0" "" "intravenous epoprostenol Lung transplantation" "Japan" "Case 4" "00387686" "" "" "" "3" "" "04141" "{PMID:Gregson 2020:31525280}" "3-generation family, 3 affected (3F)" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "FamPatIII.1" "00388539" "" "" "" "1" "" "04141" "{PMID: Gelinas 2020:33187088}" "family, 3 heterozygous carriers members (proband, mother, maternal grandfather)" "F" "no" "Netherlands;United Kingdom (Great Britain)" "05y" "0" "" "" "White" "P5" "00397666" "" "" "" "1" "" "04141" "{PMID:Xi 2016:26820968}" "" "?" "?" "China" "" "0" "" "" "Chinese Han" "Pat285" "00398661" "" "" "" "1" "" "04141" "{PMID: Gregson 2020:31525280}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "White" "UK case" "00398662" "" "" "" "1" "" "04141" "{PMID:Walcott 2018:29844917}" "" "F" "?" "(United Kingdom (Great Britain))" "" "0" "" "surgery" "White" "patient" "00408465" "" "" "" "1" "" "04141" "{PMID:Ngeow 2015:26122142}" "" "M" "no" "United States" "38y" "0" "" "" "White" "3684TE" "00412280" "" "" "" "1" "" "04141" "{PMID:Cancer Genome Atlas Network 2012:22810696}" "" "F" "?" "" "" "0" "" "" "" "TCGA-G4-6295-01" "00412302" "" "" "" "1" "" "04141" "" "" "F" "?" "" "" "" "" "" "" "TCGA-B6-A0WV-01" "00412303" "" "" "" "1" "" "04141" "{PMID:Cancer Genome Atlas Network 2012:22810696}" "" "M" "?" "" "" "0" "" "" "" "TCGA-EI-6917-01" "00412304" "" "" "" "1" "" "04141" "" "" "M" "?" "" "" "" "" "" "" "TCGA-HF-7132-01" "00412305" "" "" "" "1" "" "04141" "" "ICGC(MALY-DE) : Malignant Lymphoma (DKFZ,DE)" "F" "" "" "" "" "" "" "" "tumor_4169012" "00412306" "" "" "" "1" "" "04141" "" "COSMIC sample ID COSS1779783" "M" "" "" "" "" "" "" "" "TCGA-A3-3346-01" "00412307" "" "" "" "1" "" "04141" "{PMID:Cancer Genome Atlas Network 2012:22810696}" "" "F" "?" "" "" "0" "" "" "" "TCGA-AA-3662-01" "00412308" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-EL-A3ZQ-01" "00412309" "" "" "" "1" "" "04141" "{PMID:Vossen 2018:29884412}" "" "?" "" "" "" "0" "" "" "" "NKI_OSCC_12" "00412310" "" "" "" "1" "" "04141" "" "" "M" "?" "" "" "" "" "" "" "TCGA-EE-A29D-06" "00412311" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-FP-A4BE-01" "00412312" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "SJERG028_D" "00412314" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-AA-3663-01" "00412496" "" "" "" "1" "" "04141" "{PMID:Dulak 2013:23525077}" "" "M" "" "" "" "0" "" "" "" "ESO-169" "00412497" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-G2-AA3C-01" "00412498" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-B5-A0JY-01" "00412499" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-D1-A103-01" "00412501" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-D3-A5GU-06" "00412502" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-BR-6457-01" "00412503" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-EE-A2M5-06" "00412504" "" "" "" "1" "" "04141" "{PMID:van de Wetering 2015:25957691}" "" "F" "" "" "" "0" "" "" "" "I2L-P7-Tumor-Organoid" "00412505" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-G5-6235-01" "00412506" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-78-7148-01" "00412507" "" "" "" "1" "" "04141" "{PMID:Rabbie 2021:33024263}" "" "M" "" "" "" "0" "" "" "" "PD37592c" "00412508" "" "" "" "1" "" "04141" "{PMID:Rabbie 2021:33024263}" "" "M" "" "" "" "0" "" "" "" "PD42103a" "00412509" "" "" "" "1" "" "04141" "{PMID:Cancer Genome Atlas Network 2012:22810696}" "" "F" "" "" "" "0" "" "" "" "TCGA-AG-3892-01" "00412526" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-EB-A41A-01" "00412535" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-AN-A0AK-01" "00412538" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-DA-A1HV-06" "00412539" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-AP-A059-01" "00412540" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-B5-A0JY-01" "00412541" "" "" "" "1" "" "04141" "{PMID:Cancer Genome Atlas Network 2012:22810696}" "" "M" "" "" "" "0" "" "" "" "TCGA-G4-6320-01" "00412554" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-D1-A16X-01" "00412555" "" "" "" "1" "" "04141" "{PMID:Sharpe 2015:25759019}" "" "" "" "" "" "0" "" "" "" "PT50" "00412557" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-EE-A29D-06" "00412558" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-TM-A7CF-01" "00412559" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-BR-8591-01" "00412560" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-E2-A1BC-01" "00412561" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-DB-5281-01" "00412562" "" "" "" "1" "" "04141" "" "" "M" "" "" "" "" "" "" "" "TCGA-G2-A2ES-01ca" "00412563" "" "" "" "1" "" "04141" "" "" "F" "" "" "" "" "" "" "" "TCGA-AP-A056-01" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 55 "{{individualid}}" "{{diseaseid}}" "00081427" "05155" "00290925" "00198" "00290926" "00198" "00290927" "00198" "00304408" "00198" "00386957" "03897" "00387364" "03897" "00387685" "03897" "00387686" "05746" "00388539" "05985" "00397666" "03897" "00398661" "01484" "00398662" "01183" "00408465" "01515" "00412280" "05489" "00412302" "00318" "00412303" "05487" "00412304" "03381" "00412305" "03237" "00412306" "05496" "00412307" "05489" "00412308" "05089" "00412309" "02107" "00412310" "00926" "00412311" "03381" "00412312" "03237" "00412314" "05489" "00412496" "03381" "00412497" "00315" "00412498" "00423" "00412499" "00423" "00412501" "05154" "00412502" "03381" "00412503" "05154" "00412504" "05489" "00412505" "05487" "00412506" "00639" "00412507" "05154" "00412508" "05154" "00412509" "05487" "00412526" "05154" "00412535" "00318" "00412538" "05154" "00412539" "00423" "00412540" "00423" "00412541" "05489" "00412554" "00423" "00412555" "05154" "00412557" "05154" "00412558" "00316" "00412559" "03381" "00412560" "00318" "00412561" "00316" "00412562" "00315" "00412563" "00423" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00315, 00316, 00318, 00423, 00639, 00926, 01183, 01484, 01515, 02107, 03237, 03381, 03897, 05089, 05154, 05155, 05487, 05489, 05496, 05746, 05985 ## Count = 46 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000061029" "05155" "00081427" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum,\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "" "" "" "0000280752" "03897" "00386957" "04141" "Unknown" "08y" "heart murmur (HP:0030148), pneumonia (HP:0002090)" "" "09y" "08" "" "" "" "" "" "" "" "idiopathic pulmonary arterial hypertension" "" "0000280930" "03897" "00387364" "04141" "Unknown" "26y" "" "26y" "26y" "" "" "" "" "" "" "" "Hereditary Pulmonary arterial hypertensio" "Hereditary Pulmonary arterial hypertension" "" "0000281253" "05746" "00387686" "04141" "Familial, autosomal dominant" "33y" "Bone pain (HP:0002653), No Bone fracture (HP:0020110), Myopia (HP:0000545), Mandibular prognathia (HP:0000303), Torus palatinus (HP:0100789)" "" "33y" "" "" "" "" "" "" "" "Osteoporosis with high bone density" "Osteoporosis" "" "0000282257" "05985" "00388539" "04141" "Unknown" "" "carrier mother also suffered from pulmonary arterial hypertension; maternal grandfather obligate carrier" "" "" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension" "" "0000291745" "01183" "00398662" "04141" "Unknown" "12y" "cerebral hemorrhage (HP:0001342), recurrent brain arteriovenous malformations" "12y" "12y" "12y" "" "" "" "" "" "" "" "" "" "0000292653" "01484" "00398661" "04141" "Familial, autosomal dominant" "33y" "Bone pain (HP:0002653), Myopia (HP:0000545), Polycystic Ovary Syndrome 1 (OMIM:184700), Bipolar affective disorder (HP:0007302), Psoriasiform dermatitis (HP:0003765), Long foot (HP:0001833), Mandibular prognathia (HP:0000303)" "" "33y" "" "" "" "" "" "" "" "osteoporosis" "osteoporosis" "" "0000300587" "01515" "00408465" "04141" "Familial, autosomal dominant" "38y" "Diarrhea (HP:0002014), Weight loss (HP:0001824), Hamartomatous polyposis (HP:0004390)" "" "38y" "" "" "" "" "" "" "" "juvenile polyposis syndrome (174900), ganglioneuromatosis" "hamartomatous polyposis syndromes, Cowden syndrome was also considered" "" "0000304307" "00318" "00412302" "04141" "Unknown" "" "" "" "67y" "" "" "" "" "" "" "" "Breast (Carcinoma)" "" "Histopathology" "0000304309" "03381" "00412304" "04141" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stomach Cancer" "" "" "0000304310" "03237" "00412305" "04141" "Unknown" "" "" "" "59y" "" "" "" "" "" "" "" "Lymphoid neoplasm" "" "" "0000304311" "05496" "00412306" "04141" "Unknown" "" "" "" "68y" "" "" "" "" "" "" "" "Kidney (Carcinoma; Clear cell renal cell carcinoma" "" "Histopathology" "0000304312" "05489" "00412307" "04141" "Unknown" "" "" "" "80y" "" "" "" "" "" "" "" "Colon; Sigmoid (Carcinoma; Adenocarcinoma)" "" "" "0000304313" "05089" "00412308" "04141" "Unknown" "" "" "" "78y" "" "" "" "" "" "" "" "Thyroid (Carcinoma)" "" "" "0000304314" "02107" "00412309" "04141" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Mouth (Carcinoma; Squamous cell carcinoma)" "" "" "0000304315" "00926" "00412310" "04141" "Unknown" "" "" "" "87y" "" "" "" "" "" "" "" "Malignant melanoma" "" "" "0000304316" "03381" "00412311" "04141" "Unknown" "" "" "" "55y" "" "" "" "" "" "" "" "Stomach (Carcinoma; Adenocarcinoma)" "" "Histopathology" "0000304317" "03237" "00412312" "04141" "Unknown" "" "" "" "10y09m" "" "" "" "" "" "" "" "Lymphoid neoplasm; Acute lymphoblastic leukaemia" "" "" "0000304319" "05489" "00412314" "04141" "Unknown" "" "" "" "42y" "" "" "" "" "" "" "" "Caecum (Carcinoma; Adenocarcinoma)" "" "Histopathology" "0000304498" "03381" "00412496" "04141" "Unknown" "" "" "" "59y" "" "" "" "" "" "" "" "Gastroesophageal junction (Carcinoma; Adenocarcinoma)" "" "Histopathology" "0000304499" "00315" "00412497" "04141" "Unknown" "" "" "" "66y" "" "" "" "" "" "" "" "Bladder (Carcinoma)" "" "" "0000304500" "00423" "00412498" "04141" "Unknown" "" "" "" "50y" "" "" "" "" "" "" "" "Carcinoma; Endometrioid carcinoma" "" "" "0000304501" "00423" "00412499" "04141" "Unknown" "" "" "" "87y" "" "" "" "" "" "" "" "Endometrioid carcinoma" "" "" "0000304502" "05154" "00412501" "04141" "Unknown" "" "" "" "36y" "" "" "" "" "" "" "" "Malignant melanoma" "" "" "0000304503" "03381" "00412502" "04141" "Unknown" "" "" "" "69y" "" "" "" "" "" "" "" "Stomach (Carcinoma; Adenocarcinoma)" "" "" "0000304504" "05154" "00412503" "04141" "Unknown" "" "" "" "49y" "" "" "" "" "" "" "" "Malignant melanoma" "" "" "0000304505" "05489" "00412504" "04141" "Unknown" "" "" "" "81y" "" "" "" "" "" "" "" "Colon; Ascending (Carcinoma; Adenocarcinoma)" "" "" "0000304506" "05487" "00412505" "04141" "Unknown" "" "" "" "72y" "" "" "" "" "" "" "" "Rectum (Carcinoma; Adenocarcinoma)" "" "" "0000304507" "00639" "00412506" "04141" "Unknown" "" "" "" "71y" "" "" "" "" "" "" "" "Lung; Right upper lobe (Carcinoma; Adenocarcinoma)" "" "" "0000304508" "05154" "00412507" "04141" "Unknown" "" "" "" "18y" "" "" "" "" "" "" "" "Malignant melanoma" "" "" "0000304509" "05154" "00412508" "04141" "Unknown" "" "" "" "62y" "" "" "" "" "" "" "" "Head neck (Malignant melanoma; Nodular)" "" "" "0000304510" "05487" "00412509" "04141" "Unknown" "" "" "" "57y" "" "" "" "" "" "" "" "Rectum (Carcinoma; Adenocarcinoma)" "" "Histopathology" "0000304521" "05154" "00412526" "04141" "Unknown" "" "" "" "90y" "" "" "" "" "" "" "" "Malignant melanoma" "" "" "0000304532" "00318" "00412535" "04141" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Breast (Carcinoma)" "" "" "0000304533" "05154" "00412538" "04141" "Unknown" "" "" "" "75y" "" "" "" "" "" "" "" "Malignant melanoma" "" "" "0000304534" "00423" "00412539" "04141" "Unknown" "" "" "" "69y" "" "" "" "" "" "" "" "Carcinoma; Endometrioid carcinoma)" "" "" "0000304535" "00423" "00412540" "04141" "Unknown" "" "" "" "50y" "" "" "" "" "" "" "" "Carcinoma; Endometrioid carcinoma" "" "" "0000304549" "00423" "00412554" "04141" "Unknown" "" "" "" "54y" "" "" "" "" "" "" "" "Carcinoma; Endometrioid carcinoma" "" "" "0000304550" "05154" "00412555" "04141" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Carcinoma; Basal cell carcinoma" "" "" "0000304552" "05154" "00412557" "04141" "Unknown" "" "" "" "87y" "" "" "" "" "" "" "" "Malignant melanoma" "" "" "0000304553" "00316" "00412558" "04141" "Unknown" "" "" "" "41y" "" "" "" "" "" "" "" "Brain (Glioma)" "" "" "0000304554" "03381" "00412559" "04141" "Unknown" "" "" "" "79y" "" "" "" "" "" "" "" "Stomach (Carcinoma; Adenocarcinoma)" "" "" "0000304555" "00318" "00412560" "04141" "Unknown" "" "" "" "63y" "" "" "" "" "" "" "" "Breast (Carcinoma)" "" "" "0000304556" "00316" "00412561" "04141" "Unknown" "" "" "" "61y" "" "" "" "" "" "" "" "Brain (Glioma)" "" "" "0000304557" "00315" "00412562" "04141" "Unknown" "" "" "" "85y" "" "" "" "" "" "" "" "Bladder (Carcinoma)" "" "" "0000304558" "00423" "00412563" "04141" "Unknown" "" "" "" "64y" "" "" "" "" "" "" "" "Carcinoma; Endometrioid carcinoma" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081542" "00081427" "1" "01783" "01783" "2016-10-11 16:21:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000292093" "00290925" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292094" "00290926" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292095" "00290927" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305537" "00304408" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000388183" "00386957" "1" "04141" "04141" "2021-10-28 13:48:32" "" "" "PCR;SEQ" "DNA" "Peripheral blood" "Gene panel" "0000388594" "00387364" "1" "04141" "04141" "2021-10-28 19:52:32" "" "" "PCRq;SEQ" "DNA;RNA" "PAEC and PASMC" "" "0000388912" "00387685" "1" "04141" "04141" "2021-10-30 03:12:55" "" "" "PCRq;SEQ;Western" "DNA;RNA;protein" "Lung tissue, blood" "" "0000388913" "00387686" "1" "04141" "04141" "2021-10-30 14:04:58" "" "" "PCRq;SEQ;SEQ-NG-I" "DNA" "Peripheral blood" "WES" "0000389781" "00388539" "1" "04141" "04141" "2021-11-04 15:20:16" "" "" "SEQ;SEQ-NG-I" "DNA" "Peripheral blood" "WES (Whole exome sequencing) and validation by sanger sequencing" "0000398904" "00397666" "1" "04141" "04141" "2021-12-27 20:33:54" "" "" "MLPA;PCR" "DNA" "Peripheral blood" "" "0000399902" "00398661" "1" "04141" "04141" "2022-01-08 21:39:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399903" "00398662" "1" "04141" "04141" "2022-01-08 22:46:01" "" "" "SEQ;SEQ-NG-I" "DNA" "AVM lesion tissue and blood" "" "0000409728" "00408465" "1" "04141" "04141" "2022-04-21 20:17:01" "" "" "SEQ-NG-I" "DNA" "Genomic DNA was extracted from blood" "WES" "0000413552" "00412280" "1" "04141" "04141" "2022-06-26 21:29:34" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue and normal" "" "0000413574" "00412302" "1" "04141" "04141" "2022-06-27 13:07:48" "" "" "SEQ-NG-I" "DNA" "Fresh Frozen Tumor tissue" "WGS" "0000413575" "00412303" "1" "04141" "04141" "2022-06-27 13:23:32" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413576" "00412304" "1" "04141" "04141" "2022-06-27 13:38:35" "" "" "SEQ-NG-I" "DNA" "TUMOR TISSUE" "" "0000413577" "00412305" "1" "04141" "04141" "2022-06-27 13:54:10" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000413578" "00412306" "1" "04141" "04141" "2022-06-27 14:01:07" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WGS" "0000413579" "00412307" "1" "04141" "04141" "2022-06-27 14:07:48" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413580" "00412308" "1" "04141" "04141" "2022-06-27 14:15:01" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413581" "00412309" "1" "04141" "04141" "2022-06-27 14:21:18" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "" "0000413582" "00412310" "1" "04141" "04141" "2022-06-27 14:28:34" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413583" "00412311" "1" "04141" "04141" "2022-06-27 14:37:04" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413584" "00412312" "1" "04141" "04141" "2022-06-27 14:48:47" "" "" "SEQ-NG-I" "DNA" "blood-bone marrow" "WES" "0000413586" "00412314" "1" "04141" "04141" "2022-06-27 14:58:14" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413766" "00412496" "1" "04141" "04141" "2022-06-29 20:19:53" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413767" "00412497" "1" "04141" "04141" "2022-06-29 20:26:55" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413768" "00412498" "1" "04141" "04141" "2022-06-29 20:36:39" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WGS" "0000413769" "00412499" "1" "04141" "04141" "2022-06-29 20:45:12" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WGS" "0000413770" "00412501" "1" "04141" "04141" "2022-06-29 20:52:23" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413771" "00412502" "1" "04141" "04141" "2022-06-29 20:57:03" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413772" "00412503" "1" "04141" "04141" "2022-06-29 21:04:43" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413773" "00412504" "1" "04141" "04141" "2022-06-29 21:11:21" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413774" "00412505" "1" "04141" "04141" "2022-06-29 21:16:27" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413775" "00412506" "1" "04141" "04141" "2022-06-29 21:25:57" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WGS" "0000413776" "00412507" "1" "04141" "04141" "2022-06-29 21:32:43" "" "" "SEQ-NG-I" "DNA" "Metastasis tumor sample" "WES" "0000413777" "00412508" "1" "04141" "04141" "2022-06-29 21:38:37" "" "" "SEQ-NG-I" "DNA" "Metastasis tumor sample" "WES" "0000413779" "00412509" "1" "04141" "04141" "2022-06-29 21:45:11" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413796" "00412526" "1" "04141" "04141" "2022-06-30 11:57:50" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413807" "00412535" "1" "04141" "04141" "2022-06-30 12:02:27" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413808" "00412538" "1" "04141" "04141" "2022-06-30 12:09:14" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413809" "00412539" "1" "04141" "04141" "2022-06-30 12:15:31" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WGS" "0000413810" "00412540" "1" "04141" "04141" "2022-06-30 12:19:55" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WGS" "0000413811" "00412541" "1" "04141" "04141" "2022-06-30 12:27:07" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413824" "00412554" "1" "04141" "04141" "2022-06-30 14:00:48" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WGS" "0000413825" "00412555" "1" "04141" "04141" "2022-06-30 14:06:49" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413827" "00412557" "1" "04141" "04141" "2022-06-30 14:11:50" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413828" "00412558" "1" "04141" "04141" "2022-06-30 14:16:09" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413829" "00412559" "1" "04141" "04141" "2022-06-30 14:22:03" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413830" "00412560" "1" "04141" "04141" "2022-06-30 14:25:41" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413831" "00412561" "1" "04141" "04141" "2022-06-30 14:29:47" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WES" "0000413832" "00412562" "1" "04141" "04141" "2022-06-30 15:42:21" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WGS" "0000413833" "00412563" "1" "04141" "04141" "2022-06-30 15:53:29" "" "" "SEQ-NG-I" "DNA" "Tumor Tissue" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000081542" "SMAD9" "0000388183" "ENG" "0000388183" "SMAD1" "0000388183" "SMAD2" "0000388183" "SMAD3" "0000388183" "SMAD4" "0000388183" "SMAD5" "0000388183" "SMAD6" "0000388183" "SMAD9" "0000388594" "BMPR2" "0000388594" "SMAD4" "0000388594" "SMAD9" "0000388912" "S100A1" "0000388912" "SMAD1" "0000388912" "SMAD4" "0000388912" "SMAD5" "0000388912" "SMAD9" "0000388913" "SMAD3" "0000388913" "SMAD4" "0000388913" "SMAD5" "0000388913" "SMAD5-AS1" "0000388913" "SMAD6" "0000388913" "SMAD7" "0000388913" "SMAD9" "0000388913" "SMARCAL1" "0000398904" "ACVRL1" "0000398904" "BMPR2" "0000398904" "CAV1" "0000398904" "CBLN2" "0000398904" "ENG" "0000398904" "KCNK3" "0000398904" "SMAD9" ## 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 = 74 "{{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}}" "0000132252" "0" "50" "13" "37446880" "37446880" "subst" "4.06273E-6" "01783" "SMAD9_000001" "g.37446880G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.36872743G>A" "" "VUS" "" "0000308578" "0" "50" "13" "37427743" "37427743" "subst" "1.62475E-5" "01943" "SMAD9_000003" "g.37427743T>C" "" "" "" "SMAD9(NM_001127217.2):c.1073A>G (p.Q358R), SMAD9(NM_001127217.3):c.1073A>G (p.Q358R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36853606T>C" "" "VUS" "" "0000308579" "0" "50" "13" "37427728" "37427728" "subst" "0" "01943" "SMAD9_000002" "g.37427728T>C" "" "" "" "SMAD9(NM_001127217.2):c.1088A>G (p.N363S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36853591T>C" "" "VUS" "" "0000308580" "0" "30" "13" "37446978" "37446978" "subst" "0.00112993" "01943" "SMAD9_000004" "g.37446978C>T" "" "" "" "SMAD9(NM_001127217.2):c.487G>A (p.A163T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36872841C>T" "" "likely benign" "" "0000550737" "0" "50" "13" "37427655" "37427655" "subst" "0.000105632" "01943" "SMAD9_000005" "g.37427655G>T" "" "" "" "SMAD9(NM_001127217.2):c.1161C>A (p.N387K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36853518G>T" "" "VUS" "" "0000550738" "0" "50" "13" "37427699" "37427699" "subst" "0.000194992" "01943" "SMAD9_000006" "g.37427699C>T" "" "" "" "SMAD9(NM_001127217.2):c.1117G>A (p.V373I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36853562C>T" "" "VUS" "" "0000550739" "0" "30" "13" "37427769" "37427769" "subst" "8.1279E-5" "01943" "SMAD9_000007" "g.37427769G>A" "" "" "" "SMAD9(NM_001127217.2):c.1047C>T (p.C349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36853632G>A" "" "likely benign" "" "0000550740" "0" "70" "13" "37427813" "37427813" "subst" "0" "01943" "SMAD9_000008" "g.37427813C>G" "" "" "" "SMAD9(NM_001127217.2):c.1004-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36853676C>G" "" "likely pathogenic" "" "0000550741" "0" "90" "13" "37453680" "37453683" "del" "0" "02325" "SMAD9_000009" "g.37453680_37453683del" "" "" "" "SMAD9(NM_001127217.3):c.145_148delAAGG (p.K49Efs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36879543_36879546del" "" "pathogenic" "" "0000550742" "0" "50" "13" "37453762" "37453762" "subst" "0.00136849" "01943" "SMAD9_000010" "g.37453762A>G" "" "" "" "SMAD9(NM_001127217.2):c.65T>C (p.L22P, p.(Leu22Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36879625A>G" "" "VUS" "" "0000550743" "0" "50" "13" "37453762" "37453762" "subst" "0.00136849" "01804" "SMAD9_000010" "g.37453762A>G" "" "" "" "SMAD9(NM_001127217.2):c.65T>C (p.L22P, p.(Leu22Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36879625A>G" "" "VUS" "" "0000614643" "0" "50" "13" "37422935" "37422935" "subst" "4.08247E-6" "02327" "SMAD9_000011" "g.37422935G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36848798G>A" "" "VUS" "" "0000614644" "0" "50" "13" "37427655" "37427655" "subst" "0.000105632" "02327" "SMAD9_000005" "g.37427655G>T" "" "" "" "SMAD9(NM_001127217.2):c.1161C>A (p.N387K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36853518G>T" "" "VUS" "" "0000623062" "0" "30" "13" "37427539" "37427539" "subst" "0.00034682" "02330" "SMAD9_000012" "g.37427539T>G" "" "" "" "SMAD9(NM_001127217.3):c.1260+17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36853402T>G" "" "likely benign" "" "0000648782" "1" "30" "13" "37419908" "37419908" "subst" "0" "03575" "SMAD9_000013" "g.37419908A>G" "14/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs118015060}" "Germline" "" "rs118015060" "0" "" "" "g.36845771A>G" "" "likely benign" "" "0000648783" "1" "30" "13" "37421943" "37421943" "subst" "0" "03575" "SMAD9_000014" "g.37421943A>G" "231/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "231 heterozygous; {DB:CLININrs17804636}" "Germline" "" "rs17804636" "0" "" "" "g.36847806A>G" "" "likely benign" "" "0000648784" "1" "30" "13" "37447031" "37447031" "subst" "8.94142E-5" "03575" "SMAD9_000015" "g.37447031G>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs199957237}" "Germline" "" "rs199957237" "0" "" "" "g.36872894G>T" "" "likely benign" "" "0000669225" "3" "30" "13" "37421943" "37421943" "subst" "0" "03575" "SMAD9_000014" "g.37421943A>G" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs17804636}" "Germline" "" "rs17804636" "0" "" "" "g.36847806A>G" "" "likely benign" "" "0000679807" "0" "50" "13" "37439706" "37439706" "subst" "8.93445E-5" "01943" "SMAD9_000016" "g.37439706G>A" "" "" "" "SMAD9(NM_001127217.2):c.971C>T (p.T324M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691538" "0" "30" "13" "37439889" "37439889" "subst" "0.00112749" "01943" "SMAD9_000017" "g.37439889C>T" "" "" "" "SMAD9(NM_001127217.2):c.788G>A (p.R263Q), SMAD9(NM_001127217.3):c.788G>A (p.(Arg263Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817284" "11" "90" "13" "37446859" "37446859" "subst" "0" "04141" "SMAD9_000019" "g.37446859G>T" "1/23 cases" "{PMID:Shintani 2009:19211612}" "" "" "" "Germline" "no" "" "0" "" "" "g.36872722G>T" "" "likely pathogenic" "ACMG" "0000817295" "0" "90" "13" "37439797" "37439797" "subst" "8.12196E-6" "04141" "SMAD9_000018" "g.37439797G>A" "1/4 cases" "{PMID:Drake 2011:21920918}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.36865660G>A" "{CV:56970}" "pathogenic" "other" "0000817708" "0" "70" "13" "37453700" "37453700" "subst" "0.000101515" "04141" "SMAD9_000020" "g.37453700T>C" "" "{PMID:Nasim 2011:21898662}" "" "" "not found in 960 European control, 284 French controls, 340 Japanese controls;\r\nACMG classification submitter: BS3 (in vitro study shows no evidence of mislocalisation or protein degradation), PM6 (variant is assumed de novo, parents could not be tested), PM2 (absent from control population)" "Germline/De novo (untested)" "" "" "0" "" "" "g.36879563T>C" "{CV:56969}" "likely pathogenic (!)" "" "0000817711" "21" "70" "13" "37453762" "37453762" "subst" "0.00136849" "04141" "SMAD9_000010" "g.37453762A>G" "" "{PMID:Gregson 2020:31525280}" "" "" "variant also reported in probands affected mother and half sister" "Germline" "yes" "" "0" "" "" "g.36879625A>G" "{CV:213811}" "pathogenic (dominant)" "ACMG" "0000819040" "21" "70" "13" "37427699" "37427699" "subst" "0.000194992" "04141" "SMAD9_000006" "g.37427699C>T" "1/18 patients analyzed" "{PMID:Gelinas 2020:33187088}" "" "" "" "Germline" "" "rs140504903" "0" "" "" "g.36853562C>T" "{CV:311894}" "VUS" "ACMG" "0000831198" "0" "30" "13" "37453924" "37453924" "subst" "0" "04141" "SMAD9_000021" "g.37453924C>T" "" "{PMID:Xi 2016:26820968}" "" "-98C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000832568" "21" "90" "13" "37453762" "37453762" "subst" "0.00136849" "04141" "SMAD9_000010" "g.37453762A>G" "" "{PMID: Gregson 2020:31525280}" "" "" "rare variant (ExAC MAF 0.0023 in European non‐Finnish populations), affects a highly evolutionarily conserved base (GERP 5.53), predicted to be pathogenic by multiple protein‐prediction algorithms (deleterious by SIFT,16 probably damaging by Polyphen,15 and disease causing by MutationTaster23 and PMut22)" "Germline" "yes" "rs111748421" "0" "" "" "" "{CV: 210242}" "pathogenic" "ACMG" "0000832569" "0" "90" "13" "37439827" "37439827" "subst" "2.03069E-5" "04141" "SMAD9_000022" "g.37439827G>A" "" "{PMID:Walcott 2018:29844917}" "" "C850T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36865690G>A" "" "pathogenic" "ACMG" "0000846952" "10" "90" "13" "37419390" "37419390" "subst" "0" "04141" "SMAD9_000023" "g.37419390A>G" "" "{PMID:Ngeow 2015:26122142}" "" "" "significant family history, father had diffuse polyposis and died in his 40s (the patient did not know the cause of death), paternal uncle and aunt died from early- onset colorectal cancer in their 40s" "Germline" "yes" "rs781292297" "0" "" "" "" "{CV:000401950.1}" "likely pathogenic (dominant)" "ACMG" "0000863380" "0" "30" "13" "37441435" "37441435" "subst" "0.00350339" "01804" "SMAD9_000025" "g.37441435A>G" "" "" "" "SMAD9(NM_001127217.2):c.756T>C (p.(His252=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868247" "0" "90" "13" "37439827" "37439827" "subst" "2.03069E-5" "04141" "SMAD9_000022" "g.37439827G>A" "0.018 gnomAD" "{PMID:Thariny 2021:35291342}" "" "" "This is a bioinformatic data analysis of the data obtained from TCGA (cbioprotal). The information on the samples was obtained from TCGA dataset of 452 patients. The authors of this paper have only done bioinformatic analysis using various software like oncoprint data analysis, protein stability analysis, gnomAD analysis etc. No wetlab has been performed in this study." "In silico" "" "rs553369182" "0" "" "" "g.36865690G>A" "" "NA" "" "0000871059" "0" "70" "13" "37453576" "37453576" "subst" "4.07222E-6" "04141" "SMAD9_000026" "g.37453576C>T" "" "" "" "" "" "Somatic" "" "rs759141619" "0" "" "" "g.36879439C>T" "" "likely pathogenic" "other" "0000871083" "0" "30" "13" "37453778" "37453778" "subst" "8.12499E-6" "04141" "SMAD9_000027" "g.37453778C>T" "" "" "" "" "COSS1899868" "Somatic" "" "" "0" "" "" "g.36879641C>T" "" "likely benign" "other" "0000871084" "0" "30" "13" "37453778" "37453778" "subst" "8.12499E-6" "04141" "SMAD9_000027" "g.37453778C>T" "" "" "" "" "" "Somatic" "?" "rs1049883784" "0" "" "" "g.36879641C>T" "" "likely benign" "other" "0000871085" "0" "70" "13" "37453576" "37453576" "subst" "4.07222E-6" "04141" "SMAD9_000026" "g.37453576C>T" "" "" "" "" "" "Somatic" "" "rs759141619" "" "" "" "g.36879439C>T" "" "likely pathogenic" "other" "0000871086" "0" "70" "13" "37453538" "37453538" "subst" "8.14545E-6" "04141" "SMAD9_000048" "g.37453538G>A" "" "" "" "" "" "Somatic" "" "rs1483291649" "" "" "" "g.36879401G>A" "" "likely pathogenic" "other" "0000871087" "0" "70" "13" "37453538" "37453538" "subst" "8.14545E-6" "04141" "SMAD9_000048" "g.37453538G>A" "" "" "" "" "" "Somatic" "" "rs1483291649" "" "" "" "g.36879401G>A" "" "likely pathogenic" "other" "0000871088" "0" "70" "13" "37453538" "37453538" "subst" "8.14545E-6" "04141" "SMAD9_000048" "g.37453538G>A" "" "{PMID:Cancer Genome Atlas Network 2012:22810696}" "" "" "COSMIC sample ID COSS1651010" "Somatic" "" "" "0" "" "" "g.36879401G>A" "" "likely pathogenic" "other" "0000871089" "0" "70" "13" "37453538" "37453538" "subst" "8.14545E-6" "04141" "SMAD9_000048" "g.37453538G>A" "" "" "" "" "COSMIC sample ID COSS2122007" "Somatic" "" "" "0" "" "" "g.36879401G>A" "" "likely pathogenic" "other" "0000871090" "0" "70" "13" "37453538" "37453538" "subst" "8.14545E-6" "04141" "SMAD9_000048" "g.37453538G>A" "" "{PMID:Vossen 2018:29884412}" "" "" "COSMIC sample ID COSS2810485" "Somatic" "" "" "0" "" "" "g.36879401G>A" "" "likely pathogenic" "other" "0000871091" "0" "30" "13" "37427757" "37427757" "subst" "0" "04141" "SMAD9_000030" "g.37427757G>A" "" "" "" "" "COSMIC sample ID COSS2121635" "Somatic" "" "rs772038868" "0" "" "" "g.36853620G>A" "" "likely benign" "other" "0000871092" "0" "30" "13" "37427757" "37427757" "subst" "0" "04141" "SMAD9_000030" "g.37427757G>A" "" "" "" "" "COSMIC sample ID COSS2197995" "Somatic" "" "rs772038868" "0" "" "" "g.36853620G>A" "" "likely benign" "other" "0000871093" "0" "30" "13" "37439816" "37439816" "subst" "0" "04141" "SMAD9_000036" "g.37439816C>T" "" "" "" "" "COSMIC sample ID COSS2565690" "Somatic" "" "rs561479397" "0" "" "" "g.36865679C>T" "" "likely benign" "other" "0000871094" "0" "30" "13" "37439726" "37439726" "subst" "0" "04141" "SMAD9_000034" "g.37439726A>G" "" "" "" "" "COSMIC sample ID COSS1651011" "Somatic" "" "" "0" "" "" "g.36865589A>G" "" "likely benign" "other" "0000871306" "0" "30" "13" "37427737" "37427737" "subst" "2.43736E-5" "04141" "SMAD9_000029" "g.37427737C>T" "" "{PMID:Dulak 2013:23525077}" "" "" "COSMIC sample ID COSS1890921" "Somatic" "" "rs777628484" "0" "" "" "g.36853600C>T" "" "likely benign" "other" "0000871307" "0" "30" "13" "37427737" "37427737" "subst" "2.43736E-5" "04141" "SMAD9_000029" "g.37427737C>T" "" "" "" "" "COSMIC sample ID COSS2339190" "Somatic" "" "rs777628484" "0" "" "" "g.36853600C>T" "" "likely benign" "other" "0000871308" "0" "30" "13" "37447042" "37447042" "subst" "0" "04141" "SMAD9_000042" "g.37447042A>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.36872905A>T" "" "likely benign" "other" "0000871309" "0" "30" "13" "37453526" "37453526" "subst" "4.07242E-6" "04141" "SMAD9_000047" "g.37453526G>A" "" "" "" "" "" "Somatic" "" "rs757282095" "0" "" "" "g.36879389G>A" "" "likely benign" "other" "0000871310" "0" "30" "13" "37453819" "37453819" "subst" "0" "04141" "SMAD9_000057" "g.37453819G>A" "" "" "" "" "COSMIC sample ID COSS2121554" "Somatic" "" "rs1386703057" "0" "" "" "g.36879682G>A" "" "likely benign" "other" "0000871311" "0" "70" "13" "37427777" "37427777" "subst" "0" "04141" "SMAD9_000032" "g.37427777C>A" "" "" "" "" "COSMIC sample ID COSS2198074" "Somatic" "" "" "0" "" "" "g.36853640C>A" "" "likely pathogenic" "other" "0000871312" "0" "70" "13" "37453792" "37453792" "subst" "8.12955E-6" "04141" "SMAD9_000056" "g.37453792G>A" "" "" "" "" "COSMIC sample ID COSS2121671" "Somatic" "" "rs766290332" "0" "" "" "g.36879655G>A" "" "likely pathogenic" "other" "0000871313" "0" "70" "13" "37453634" "37453634" "subst" "1.21894E-5" "04141" "SMAD9_000053" "g.37453634G>A" "" "{PMID:van de Wetering 2015:25957691}" "" "" "" "Somatic" "" "rs781679938" "0" "" "" "g.36879497G>A" "" "likely pathogenic" "other" "0000871314" "0" "30" "13" "37453599" "37453599" "subst" "4.06709E-6" "04141" "SMAD9_000051" "g.37453599G>A" "" "" "" "" "COSMIC sample ID COSS1651645" "Somatic" "" "rs938475620" "0" "" "" "g.36879462G>A" "" "likely benign" "other" "0000871315" "0" "70" "13" "37427802" "37427802" "subst" "0" "04141" "SMAD9_000033" "g.37427802C>A" "" "" "" "" "COSMIC sample ID COSS1914055" "Somatic" "" "" "0" "" "" "g.36853665C>A" "" "likely pathogenic" "other" "0000871316" "0" "70" "13" "37453613" "37453613" "subst" "0" "04141" "SMAD9_000052" "g.37453613G>A" "" "{PMID:Rabbie 2021:33024263}" "" "" "COSMIC sample ID COSS2894863" "Somatic" "" "" "0" "" "" "g.36879476G>A" "" "likely pathogenic" "other" "0000871317" "0" "70" "13" "37453736" "37453736" "subst" "0" "04141" "SMAD9_000054" "g.37453736C>T" "" "{PMID:Rabbie 2021:33024263}" "" "" "COSMIC sample ID COSS2894845" "Somatic" "" "" "0" "" "" "g.36879599C>T" "" "likely pathogenic" "other" "0000871320" "0" "30" "13" "37453773" "37453773" "subst" "1.62472E-5" "04141" "SMAD9_000055" "g.37453773C>T" "" "{PMID:Cancer Genome Atlas Network 2012:22810696}" "" "" "COSMIC sample ID COSS1651564" "Somatic" "" "rs768411249" "0" "" "" "g.36879636C>T" "" "likely benign" "other" "0000871339" "0" "70" "13" "37439854" "37439854" "subst" "0" "04141" "SMAD9_000037" "g.37439854A>C" "" "" "" "" "COSMIC sample ID COSS2121595" "Somatic" "" "" "0" "" "" "g.36865717A>C" "" "likely pathogenic" "other" "0000871352" "0" "70" "13" "37453453" "37453453" "subst" "0" "04141" "SMAD9_000045" "g.37453453C>T" "" "" "" "" "COSMIC sample ID COSS2187823" "Somatic" "" "" "0" "" "" "g.36879316C>T" "" "likely pathogenic" "other" "0000871353" "0" "30" "13" "37446898" "37446898" "subst" "0" "04141" "SMAD9_000040" "g.37446898G>A" "" "" "" "" "COSMIC sample ID COSS2121567" "Somatic" "" "" "0" "" "" "g.36872761G>A" "" "likely benign" "other" "0000871354" "0" "30" "13" "37453431" "37453431" "subst" "0" "04141" "SMAD9_000044" "g.37453431G>A" "" "" "" "" "COSMIC sample ID COSS1783335" "Somatic" "" "rs764914823" "0" "" "" "g.36879294G>A" "" "likely benign" "other" "0000871355" "0" "30" "13" "37441423" "37441423" "subst" "0.000185075" "04141" "SMAD9_000038" "g.37441423C>T" "" "" "" "" "COSMIC sample ID COSS1783388" "Somatic" "" "rs372254094" "0" "" "" "g.36867286C>T" "" "likely benign" "other" "0000871356" "0" "70" "13" "37453538" "37453538" "subst" "0" "04141" "SMAD9_000049" "g.37453538G>T" "" "{PMID:Cancer Genome Atlas Network 2012:22810696}" "" "" "COSMIC sample ID COSS1651332" "Somatic" "" "" "0" "" "" "g.36879401G>T" "" "likely pathogenic" "other" "0000871371" "0" "70" "13" "37453547" "37453547" "subst" "0" "04141" "SMAD9_000050" "g.37453547G>A" "" "" "" "" "COSMIC sample ID COSS1783518" "Somatic" "" "rs760239836" "0" "" "" "g.36879410G>A" "" "likely pathogenic" "other" "0000871372" "0" "70" "13" "37453547" "37453547" "subst" "0" "04141" "SMAD9_000050" "g.37453547G>A" "" "{PMID:Sharpe 2015:25759019}" "" "" "COSMIC sample ID COSS2521307" "Somatic" "" "rs760239836" "0" "" "" "g.36879410G>A" "" "likely pathogenic" "" "0000871375" "0" "30" "13" "37446810" "37446810" "subst" "4.06174E-6" "04141" "SMAD9_000039" "g.37446810G>A" "" "" "" "" "COSMIC sample ID COSS2121635" "Somatic" "" "rs769704107" "0" "" "" "g.36872673G>A" "" "likely benign" "other" "0000871376" "0" "30" "13" "37439796" "37439796" "subst" "8.12176E-6" "04141" "SMAD9_000035" "g.37439796C>T" "" "" "" "" "COSMIC sample ID COSS2263271" "Somatic" "" "rs1382800676" "0" "" "" "g.36865659C>T" "" "likely benign" "other" "0000871377" "0" "30" "13" "37453416" "37453416" "subst" "0" "04141" "SMAD9_000043" "g.37453416T>C" "" "" "" "" "COSMIC sample ID COSS2198136" "Somatic" "" "" "0" "" "" "g.36879279T>C" "" "likely benign" "other" "0000871378" "0" "30" "13" "37446983" "37446983" "subst" "4.87773E-5" "04141" "SMAD9_000041" "g.37446983C>T" "" "" "" "" "COSMIC sample ID COSS1900158" "Somatic" "" "rs200651392" "0" "" "" "g.36872846C>T" "" "likely benign" "other" "0000871379" "0" "30" "13" "37427768" "37427768" "subst" "1.21892E-5" "04141" "SMAD9_000031" "g.37427768C>T" "" "" "" "" "COSMIC sample ID COSS2194404" "Somatic" "" "rs757281925" "0" "" "" "g.36853631C>T" "" "likely benign" "other" "0000871380" "0" "30" "13" "37422860" "37422860" "subst" "0" "04141" "SMAD9_000028" "g.37422860G>C" "" "" "" "" "COSMIC sample ID COSS1898126" "Somatic" "" "" "0" "" "" "g.36848723G>C" "" "likely benign" "other" "0000871381" "0" "70" "13" "37453491" "37453491" "subst" "0" "04141" "SMAD9_000046" "g.37453491G>T" "" "" "" "" "COSMIC sample ID COSS1783334" "Somatic" "" "" "0" "" "" "g.36879354G>T" "" "likely benign" "other" "0000891532" "0" "50" "13" "37427743" "37427743" "subst" "1.62475E-5" "02325" "SMAD9_000003" "g.37427743T>C" "" "" "" "SMAD9(NM_001127217.2):c.1073A>G (p.Q358R), SMAD9(NM_001127217.3):c.1073A>G (p.Q358R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039704" "0" "30" "13" "37439889" "37439889" "subst" "0.00112749" "01804" "SMAD9_000017" "g.37439889C>T" "" "" "" "SMAD9(NM_001127217.2):c.788G>A (p.R263Q), SMAD9(NM_001127217.3):c.788G>A (p.(Arg263Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SMAD9 ## Count = 74 "{{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}}" "0000132252" "00024181" "50" "585" "0" "585" "0" "c.585C>T" "r.(585c>u)" "p.(Asn195=)" "2" "0000308578" "00024181" "50" "1073" "0" "1073" "0" "c.1073A>G" "r.(?)" "p.(Gln358Arg)" "" "0000308579" "00024181" "50" "1088" "0" "1088" "0" "c.1088A>G" "r.(?)" "p.(Asn363Ser)" "" "0000308580" "00024181" "30" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Ala163Thr)" "" "0000550737" "00024181" "50" "1161" "0" "1161" "0" "c.1161C>A" "r.(?)" "p.(Asn387Lys)" "" "0000550738" "00024181" "50" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Val373Ile)" "" "0000550739" "00024181" "30" "1047" "0" "1047" "0" "c.1047C>T" "r.(?)" "p.(Cys349=)" "" "0000550740" "00024181" "70" "1004" "-1" "1004" "-1" "c.1004-1G>C" "r.spl?" "p.?" "" "0000550741" "00024181" "90" "145" "0" "148" "0" "c.145_148del" "r.(?)" "p.(Lys49GlufsTer41)" "" "0000550742" "00024181" "50" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Leu22Pro)" "" "0000550743" "00024181" "50" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Leu22Pro)" "" "0000614643" "00024181" "50" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Arg428Cys)" "" "0000614644" "00024181" "50" "1161" "0" "1161" "0" "c.1161C>A" "r.(?)" "p.(Asn387Lys)" "" "0000623062" "00024181" "30" "1260" "17" "1260" "17" "c.1260+17A>C" "r.(=)" "p.(=)" "" "0000648782" "00024181" "30" "4309" "0" "4309" "0" "c.*2905T>C" "r.(=)" "p.(=)" "" "0000648783" "00024181" "30" "2274" "0" "2274" "0" "c.*870T>C" "r.(=)" "p.(=)" "" "0000648784" "00024181" "30" "434" "0" "434" "0" "c.434C>A" "r.(?)" "p.(Pro145Gln)" "" "0000669225" "00024181" "30" "2274" "0" "2274" "0" "c.*870T>C" "r.(=)" "p.(=)" "" "0000679807" "00024181" "50" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Thr324Met)" "" "0000691538" "00024181" "30" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" "" "0000817284" "00024181" "90" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Cys202*)" "2" "0000817295" "00024181" "90" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294*)" "" "0000817708" "00024181" "70" "127" "0" "127" "0" "c.127A>G" "r.(?)" "p.(Lys43Glu)" "" "0000817711" "00024181" "70" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Leu22Pro)" "" "0000819040" "00024181" "70" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Val373Ile)" "6" "0000831198" "00024181" "30" "-98" "0" "-98" "0" "c.-98G>A" "r.(=)" "p.(=)" "" "0000832568" "00024181" "90" "65" "0" "65" "0" "c.65T>C" "r.(?)" "p.(Leu22Pro)" "2" "0000832569" "00024181" "90" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(Arg284*)" "5" "0000846952" "00024181" "90" "4827" "0" "4827" "0" "c.*3423T>C" "r.(=)" "p.(=)" "13q13.3" "0000863380" "00024181" "30" "756" "0" "756" "0" "c.756T>C" "r.(?)" "p.(His252=)" "" "0000868247" "00024181" "90" "850" "0" "850" "0" "c.850C>T" "r.(850c>u)" "p.(Arg284*)" "" "0000871059" "00024181" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84His)" "13" "0000871083" "00024181" "30" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Ala17Thr)" "" "0000871084" "00024181" "30" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Ala17Thr)" "" "0000871085" "00024181" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84His)" "" "0000871086" "00024181" "70" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Cys)" "" "0000871087" "00024181" "70" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Cys)" "" "0000871088" "00024181" "70" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Cys)" "" "0000871089" "00024181" "70" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Cys)" "" "0000871090" "00024181" "70" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Cys)" "" "0000871091" "00024181" "30" "1059" "0" "1059" "0" "c.1059C>T" "r.(=)" "p.(Ser353=)" "" "0000871092" "00024181" "30" "1059" "0" "1059" "0" "c.1059C>T" "r.(=)" "p.(=)" "" "0000871093" "00024181" "30" "861" "0" "861" "0" "c.861G>A" "r.(=)" "p.(=)" "" "0000871094" "00024181" "30" "951" "0" "951" "0" "c.951T>C" "r.(=)" "p.(=)" "" "0000871306" "00024181" "30" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "" "0000871307" "00024181" "30" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "" "0000871308" "00024181" "30" "423" "0" "423" "0" "c.423T>A" "r.(=)" "p.(=)" "" "0000871309" "00024181" "30" "301" "0" "301" "0" "c.301C>T" "r.(=)" "p.(=)" "" "0000871310" "00024181" "30" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ser3Phe)" "" "0000871311" "00024181" "70" "1039" "0" "1039" "0" "c.1039G>T" "r.(?)" "p.(Ala347Ser)" "" "0000871312" "00024181" "70" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Ser12Phe)" "" "0000871313" "00024181" "70" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Pro65Ser)" "" "0000871314" "00024181" "30" "228" "0" "228" "0" "c.228C>T" "r.(=)" "p.(=)" "" "0000871315" "00024181" "70" "1014" "0" "1014" "0" "c.1014G>T" "r.(?)" "p.(Leu338Phe)" "" "0000871316" "00024181" "70" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Pro72Ser)" "" "0000871317" "00024181" "70" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Glu31Lys)" "" "0000871320" "00024181" "30" "54" "0" "54" "0" "c.54G>A" "r.(=)" "p.(=)" "" "0000871339" "00024181" "70" "823" "0" "823" "0" "c.823T>G" "r.(?)" "p.(Ser275Ala)" "" "0000871352" "00024181" "70" "374" "0" "374" "0" "c.374G>A" "r.(?)" "p.(Cys125Tyr)" "" "0000871353" "00024181" "30" "567" "0" "567" "0" "c.567C>T" "r.(=)" "p.(=)" "" "0000871354" "00024181" "30" "396" "0" "396" "0" "c.396C>T" "r.(=)" "p.(=)" "" "0000871355" "00024181" "30" "768" "0" "768" "0" "c.768G>A" "r.(=)" "p.(=)" "" "0000871356" "00024181" "70" "289" "0" "289" "0" "c.289C>A" "r.(?)" "p.(Arg97Ser)" "" "0000871371" "00024181" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "" "0000871372" "00024181" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "" "0000871375" "00024181" "30" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Pro219Ser)" "" "0000871376" "00024181" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294Gln)" "" "0000871377" "00024181" "30" "411" "0" "411" "0" "c.411A>G" "r.(=)" "p.(=)" "" "0000871378" "00024181" "30" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "" "0000871379" "00024181" "30" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Val350Met)" "" "0000871380" "00024181" "30" "1357" "0" "1357" "0" "c.1357C>G" "r.(?)" "p.(Leu453Val)" "" "0000871381" "00024181" "70" "336" "0" "336" "0" "c.336C>A" "r.(?)" "p.(Cys112*)" "" "0000891532" "00024181" "50" "1073" "0" "1073" "0" "c.1073A>G" "r.(?)" "p.(Gln358Arg)" "" "0001039704" "00024181" "30" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{variantid}}" "0000081542" "0000132252" "0000292093" "0000648782" "0000292094" "0000648783" "0000292095" "0000648784" "0000305537" "0000669225" "0000388183" "0000817284" "0000388594" "0000817295" "0000388912" "0000817708" "0000388913" "0000817711" "0000389781" "0000819040" "0000398904" "0000831198" "0000399902" "0000832568" "0000399903" "0000832569" "0000409728" "0000846952" "0000413552" "0000871059" "0000413574" "0000871083" "0000413575" "0000871084" "0000413576" "0000871085" "0000413577" "0000871086" "0000413578" "0000871087" "0000413579" "0000871088" "0000413580" "0000871089" "0000413581" "0000871090" "0000413582" "0000871091" "0000413583" "0000871092" "0000413584" "0000871093" "0000413586" "0000871094" "0000413766" "0000871306" "0000413767" "0000871307" "0000413768" "0000871308" "0000413769" "0000871309" "0000413770" "0000871310" "0000413771" "0000871311" "0000413772" "0000871312" "0000413773" "0000871313" "0000413774" "0000871314" "0000413775" "0000871315" "0000413776" "0000871316" "0000413777" "0000871317" "0000413779" "0000871320" "0000413796" "0000871339" "0000413807" "0000871352" "0000413808" "0000871353" "0000413809" "0000871354" "0000413810" "0000871355" "0000413811" "0000871356" "0000413824" "0000871371" "0000413825" "0000871372" "0000413827" "0000871375" "0000413828" "0000871376" "0000413829" "0000871377" "0000413830" "0000871378" "0000413831" "0000871379" "0000413832" "0000871380" "0000413833" "0000871381"