Variants from Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein with conflicting interpretations

Minimum review status of the submission from Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
3021	941	3	520	190	6	189	846

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All submitters
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	drug response	protective	other
	pathogenic	3	203	25	3	1	2	2	1	2
	likely pathogenic	284	0	55	1	0	0	0	0	0
	uncertain significance	48	80	0	128	30	0	0	0	0
	likely benign	0	0	44	0	22	0	0	0	0
	benign	0	0	4	12	0	0	0	0	0

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp	0	498	2	116	73	0	43	233
GeneDx	0	214	0	55	31	0	26	111
OMIM	0	187	1	65	0	1	8	75
CeGaT Center for Human Genetics Tuebingen	0	113	0	33	27	0	2	62
Mendelics	0	124	0	26	14	0	18	58
PreventionGenetics, part of Exact Sciences	0	97	0	21	24	0	2	47
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	168	0	20	15	0	11	46
Revvity Omics, Revvity	0	154	0	29	5	0	9	42
3billion	0	138	0	30	1	0	10	41
Baylor Genetics	0	247	1	30	0	0	8	39
Counsyl	0	74	0	32	0	0	2	34
Eurofins Ntd Llc (ga)	0	72	0	18	11	1	5	33
Myriad Genetics, Inc.	0	60	0	11	16	0	2	29
Fulgent Genetics, Fulgent Genetics	0	178	0	24	0	0	3	27
Dasa	0	83	0	19	1	0	4	24
Mayo Clinic Laboratories, Mayo Clinic	0	73	0	11	8	0	6	24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	82	0	18	0	0	6	24
Department of Pathology and Laboratory Medicine, Sinai Health System	0	63	0	11	5	0	7	23
Genetic Services Laboratory, University of Chicago	0	45	0	12	4	0	4	20
Institute of Human Genetics, University of Leipzig Medical Center	0	80	0	13	0	0	7	20
Ambry Genetics	0	46	0	5	12	0	3	19
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	56	0	14	0	0	2	16
Genome-Nilou Lab	0	51	0	14	0	0	1	15
Natera, Inc.	0	106	0	10	0	0	5	15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	37	0	9	2	0	2	13
Illumina Laboratory Services, Illumina	0	84	0	10	1	0	3	13
Athena Diagnostics	0	33	0	8	4	0	1	12
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	20	0	12	0	0	0	12
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	25	0	10	0	0	2	12
Neuberg Centre For Genomic Medicine, NCGM	0	49	0	8	0	0	4	12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	52	0	6	4	0	1	11
Solve-RD Consortium	0	2	0	10	0	0	1	11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	24	0	8	0	0	2	10
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	13	0	5	4	0	1	10
Variantyx, Inc.	0	69	0	8	0	0	2	10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	27	0	6	0	0	3	9
Institute of Human Genetics Munich, TUM University Hospital	0	36	0	8	0	0	1	9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	46	0	4	1	0	3	8
OLLIN Analises Genomicas, OLLIN	0	28	0	5	0	0	3	8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	19	0	6	0	0	2	7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	43	0	6	0	0	1	7
Johns Hopkins Genomics, Johns Hopkins University	0	16	0	3	0	0	4	7
SIB Swiss Institute of Bioinformatics	0	6	0	7	0	0	0	7
Clinical Genetics Laboratory, Skane University Hospital Lund	0	24	0	5	0	0	1	6
Department of Human Genetics, Hannover Medical School	0	21	0	5	0	0	1	6
Genomics England Pilot Project, Genomics England	0	10	0	6	0	0	0	6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	18	0	6	0	0	0	6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	12	0	4	1	0	1	6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	3	0	5	0	0	2	6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	21	0	4	0	0	3	6
Breakthrough Genomics, Breakthrough Genomics	0	38	0	2	2	0	1	5
Color Diagnostics, LLC DBA Color Health	0	11	0	1	3	0	1	5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	33	0	4	0	0	1	5
Genetics and Molecular Pathology, SA Pathology	0	25	0	5	0	0	0	5
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	14	0	4	0	0	1	5
Juno Genomics, Hangzhou Juno Genomics, Inc	0	36	0	5	0	0	0	5
MGZ Medical Genetics Center	0	45	0	5	0	0	0	5
Undiagnosed Diseases Network, NIH	0	13	0	3	0	0	3	5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	11	0	2	0	0	2	4
CSER _CC_NCGL, University of Washington	0	2	0	0	3	0	1	4
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	0	0	1	0	0	3	4
Clinical Genetics, Academic Medical Center	0	9	0	3	0	0	1	4
Clinical Genomics Laboratory, Washington University in St. Louis	0	13	0	3	0	0	1	4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	5	0	2	1	0	1	4
Dubai Health Genomic Medicine Center, Dubai Health	0	13	0	3	1	0	0	4
Elsea Laboratory, Baylor College of Medicine	0	2	0	1	0	0	3	4
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	10	0	2	0	0	2	4
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	24	0	3	1	0	0	4
Institute of Immunology and Genetics Kaiserslautern	0	14	0	4	0	0	0	4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	1	0	4	0	0	0	4
Medical and Scientific Branch, Hong Kong Genome Institute	0	7	0	3	0	0	1	4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	2	0	1	2	0	1	4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	14	0	4	0	0	0	4
NIHR Bioresource Rare Diseases, University of Cambridge	0	1	0	3	0	0	1	4
New York Genome Center	0	26	0	4	0	0	1	4
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	0	4	0	4	0	0	0	4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	19	0	4	0	0	0	4
AiLife Diagnostics, AiLife Diagnostics	0	8	0	3	0	0	0	3
Autoinflammatory diseases unit, CHU de Montpellier	0	3	0	1	0	0	2	3
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	22	0	2	0	0	1	3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	12	0	1	1	0	1	3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	17	0	3	0	0	0	3
Clinical Genetics and Genomics, Karolinska University Hospital	0	7	0	2	0	0	1	3
Dobyns Lab, Seattle Children's Research Institute	0	1	0	1	0	0	2	3
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	24	0	3	0	0	0	3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	11	0	1	0	0	2	3
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	20	0	3	0	0	0	3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	13	0	1	0	0	2	3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	6	0	3	0	0	0	3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	8	0	3	0	0	0	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	13	0	3	0	0	0	3
LDLR-LOVD, British Heart Foundation	0	1	0	2	0	0	1	3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	33	0	3	0	0	0	3
Quest Diagnostics Nichols Institute San Juan Capistrano	0	21	0	1	1	0	1	3
Sharing Clinical Reports Project (SCRP)	0	15	0	2	1	0	0	3
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	0	0	3	0	0	0	3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	12	1	1	0	0	1	3
All of Us Research Program, National Institutes of Health	0	26	0	0	2	0	0	2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	0	0	0	2	0	0	0	2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	5	0	2	0	0	0	2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London	0	0	0	2	0	0	0	2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	21	0	0	1	0	1	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	10	0	2	0	0	0	2
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	0	0	0	2	0	0	2
ClinPGx	0	0	0	0	0	2	0	2
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	0	6	0	2	0	0	0	2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	4	0	2	0	0	0	2
Department of Molecular Genetics, Istishari Arab Hospital	0	4	0	2	0	0	0	2
Division of Human Genetics, Children's Hospital of Philadelphia	0	7	0	2	0	0	0	2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	0	0	0	0	0	2	0	2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	2	0	2	0	0	1	2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	6	0	0	0	0	2	2
Genetics Department, Catlab	0	3	0	2	0	0	0	2
Genomic Medicine Lab, University of California San Francisco	0	7	0	2	0	0	0	2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	9	1	1	0	0	0	2
Kariminejad - Najmabadi Pathology & Genetics Center	0	5	0	0	0	0	2	2
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	4	0	1	0	0	1	2
Laboratorio de I+D, Fundación Centro Médico de Asturias	0	0	0	0	1	0	1	2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	2	0	1	0	0	1	2
Laboratory of Human Genetics, Universidade de São Paulo	0	6	0	1	0	0	1	2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	0	1	0	1	0	0	1	2
Lifecell International Pvt. Ltd	0	7	0	1	0	0	1	2
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	2	0	1	0	0	1	2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	3	0	1	0	0	1	2
Molecular Pathology, Peter Maccallum Cancer Centre	0	17	0	1	1	0	0	2
NHS Central & South Genomic Laboratory Hub	0	7	0	1	0	0	1	2
Paris Brain Institute, Inserm - ICM	0	7	0	2	0	0	0	2
Precision Medicine Center, Zhengzhou University	0	2	0	1	0	0	1	2
Robarts Research Institute, Western University	0	0	0	2	0	0	0	2
Saint-Louis Hospital, Assistance Publique Hôpitaux de Paris	0	1	0	2	0	0	0	2
Suma Genomics	0	6	0	0	0	0	2	2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	2	0	1	0	0	1	2
UCLA Clinical Genomics Center, UCLA	0	4	0	2	0	0	0	2
University of Washington Center for Mendelian Genomics, University of Washington	0	0	0	2	0	0	0	2
Applied Translational Genetics Group, University of Auckland	0	0	0	1	0	0	0	1
Aziz Sancar Institute of Experimental Medicine, Istanbul University	0	0	0	1	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	2	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	0	0	1	0	0	0	1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar	0	1	0	0	0	0	1	1
Blueprint Genetics	0	7	0	1	0	0	0	1
Bristol Genetics Laboratory, North Bristol NHS Trust	0	0	0	0	0	0	1	1
CGC Genetics, Unilabs	0	0	0	1	0	0	0	1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	0	0	1	0	0	0	1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	1	0	0	0	0	1	1
Cancer Diagnostics Division, Gene Solutions	0	0	0	1	0	0	0	1
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	0	0	0	1	0	0	0	1
Cavalleri Lab, Royal College of Surgeons in Ireland	0	0	0	1	0	0	0	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	0	0	0	0	0	1	1
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	9	0	0	0	0	1	1
Center for Medical Genetics Ghent, University of Ghent	0	0	0	0	0	0	1	1
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	3	0	1	0	0	0	1
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires	0	3	0	1	0	0	0	1
Center of Medical Genetics and Primary Health Care	0	0	0	1	0	0	0	1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital	0	4	0	1	0	0	0	1
Centre for Medical Genetics, Mumbai	0	0	0	0	1	0	0	1
Centre of Medical Genetics, University Hospital Muenster	0	7	0	1	0	0	0	1
Centre of Medical Genetics, University of Antwerp	0	0	0	1	0	0	0	1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital	0	0	0	1	0	0	0	1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	0	0	0	0	0	0	1	1
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	4	0	0	0	0	1	1
Clingen Thrombosis Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center	0	0	0	1	0	0	0	1
Clinical Genetics, Erasmus University Medical Center	0	0	0	0	1	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	12	0	0	0	0	1	1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	0	1	0	0	0	1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	18	0	1	0	0	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	0	4	0	1	0	0	0	1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics	0	0	0	1	0	0	0	1
Cytogenetique et Genetique Moleculaire, CHU Besancon	0	0	0	0	0	0	1	1
Daryl Scott Lab, Baylor College of Medicine	0	27	0	1	0	0	0	1
Department of Clinical Genetics, Aarhus University Hospital	0	0	0	0	0	0	1	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	9	0	0	0	0	1	1
Department of Genetics, Sultan Qaboos University Hospital	0	3	0	1	0	0	0	1
Department of Medical Genetics, Oslo University Hospital	0	7	0	1	0	0	0	1
Department of Neurology, Affiliated Hospital of Southwest Medical University	0	0	0	1	0	0	0	1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	2	0	0	0	0	1	1
Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children’s Hospital	0	0	0	1	0	0	0	1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital	0	1	0	1	0	0	0	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	0	1	0	1	0	0	0	1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	0	2	0	1	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	1	0	1	0	0	0	1
Division of Medical Genetics, University of Washington	0	0	0	1	0	0	0	1
Dunham Lab, University of Washington	0	0	0	1	0	0	0	1
Faculty of Health Sciences, Beirut Arab University	0	0	0	1	0	0	0	1
Familial Cancer Clinic, Veneto Institute of Oncology	0	0	0	1	0	0	0	1
GeneReviews	0	83	0	1	0	0	0	1
Genesis Genomics	0	6	0	1	0	0	0	1
Genetic Foundation of Khorasan Razavi (GFKR)	0	0	0	1	0	0	0	1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	2	0	1	0	0	0	1
Genetics Department, University Hospital of Toulouse	0	0	0	1	0	0	0	1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	2	0	0	0	0	1	1
Genetics and Genomics, Alberta Children's Hospital	0	0	0	1	0	0	0	1
Genetics and Personalized Medicine Clinic, Tartu University Hospital	0	0	0	1	0	0	0	1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	1	0	1	0	0	0	1
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	7	0	1	0	0	0	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	0	1
Genomenon, Inc, Genomenon, Inc	0	1	0	0	0	0	1	1
Genomics Facility, Ludwig-Maximilians-Universität München	0	0	0	1	0	0	0	1
Giacomini Lab, University of California, San Francisco	0	0	0	0	1	0	0	1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université	0	0	0	1	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	9	0	0	0	0	1	1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas	0	0	0	0	0	0	1	1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	2	0	1	0	0	0	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	0	1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA	0	3	0	1	0	0	0	1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	3	0	1	0	0	0	1
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	1	1
Institute for Human Genetics, University Hospital Essen	0	0	0	0	0	0	1	1
Institute for Human Genetics, University Medical Center Freiburg	0	1	0	0	0	0	1	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	7	0	1	0	0	0	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	7	0	0	0	0	1	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	5	0	1	0	0	0	1
Institute of Human Genetics, Heidelberg University	0	8	0	0	0	0	1	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	3	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	0	0	0	0	1	1
Intergen Genetics and Rare Diseases Diagnosis Center	0	2	0	1	0	0	0	1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	7	0	1	0	0	0	1
Kids Research, The Children's Hospital at Westmead	0	0	0	1	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	16	0	1	0	0	0	1
Laboratory of Functional Genomics, Research Centre for Medical Genetics	0	0	0	1	0	0	0	1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	3	0	0	0	0	1	1
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	1	0	1	0	0	0	1
Laboratory of Medical Genetics, University of Torino	0	2	0	1	0	0	0	1
Leiden Open Variation Database	0	7	0	0	0	0	1	1
MVZ Martinsried, Medicover Genetics	0	2	0	1	0	0	0	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	1	0	1	0	0	1	1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	0	0	0	1	0	0	0	1
Molecular Biology Laboratory, Fundació Puigvert	0	3	0	1	0	0	0	1
Molecular Genetics Lab, CHRU Brest	0	2	0	1	0	0	0	1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	0	0	1	0	0	0	1
Molecular Genetics laboratory, Necker Hospital	0	1	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	0	8	0	1	0	0	0	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	4	0	1	0	0	0	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	0	1
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	0	0	1	0	0	0	1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp	0	0	0	1	0	0	0	1
Neurogenetics Research Program, University of Adelaide	0	0	0	0	0	0	1	1
Next Generation Genetic Polyclinic	0	2	0	1	0	0	0	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	0	0	0	0	0	1	1
Otogenetics	0	1	0	1	0	0	0	1
PXE International	0	0	0	0	0	0	1	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	3	0	0	0	0	1	1
Pathway Genomics	0	5	0	1	0	0	0	1
Pediatric Department, Xiangya Hospital, Central South University	0	2	0	1	0	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	9	0	1	0	0	0	1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino	0	1	0	1	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	0	0	1	1
Rare Disease Group, University of Exeter	0	0	0	1	0	0	0	1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	4	0	1	0	0	0	1
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University	0	0	0	1	0	0	0	1
Sema4, Sema4	0	3	0	0	1	0	0	1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	0	0	1	0	0	0	1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria	0	0	0	0	0	0	1	1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud	0	0	0	1	0	0	0	1
SingHealth Duke-NUS Institute of Precision Medicine	0	0	0	0	0	0	1	1
Sydney Children's Hospital, SCHN	0	0	0	0	0	0	1	1
Tgen's Center for Rare Childhood Disorders, Translational Genomics Research Institute (tgen)	0	0	0	1	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	8	0	1	0	0	0	1
University of Iowa Renal Genetics Clinic, University of Iowa	0	0	0	0	1	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	2	0	1	0	0	0	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Yale Center for Mendelian Genomics, Yale University	0	3	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_001002294.3(FMO3):c.472G>A (p.Glu158Lys)	rs2266782	0.40810
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala)	rs9697983	0.03160
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	rs61747728	0.02796
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	rs3743930	0.02112
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_001013839.4(EXOC7):c.417+41C>G	rs113648734	0.01079
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)	rs17089782	0.00771
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp)	rs144360241	0.00541
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00475
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)	rs148869805	0.00464
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00408
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00391
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)	rs61730509	0.00389
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_005476.7(GNE):c.624T>G (p.Asp208Glu)	rs35224402	0.00362
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_001142800.2(EYS):c.6725+10G>A	rs140506043	0.00325
NM_004793.4(LONP1):c.1309G>A (p.Val437Ile)	rs139554429	0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_001365276.2(TNXB):c.11539G>A (p.Gly3847Ser)	rs199688928	0.00315
NM_001510.4(GRID2):c.2218G>A (p.Val740Ile)	rs150846341	0.00306
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	rs149989682	0.00293
NM_001354930.2(RIPK1):c.1730-15T>C	rs113605768	0.00284
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)	rs76308115	0.00283
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00279
NM_000055.4(BCHE):c.635C>T (p.Ala212Val)	rs114706984	0.00249
NM_015114.3(ANKLE2):c.1961G>A (p.Arg654Gln)	rs77116800	0.00248
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	rs115746363	0.00243
NM_006734.4(HIVEP2):c.194G>T (p.Gly65Val)	rs61729347	0.00229
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)	rs35586704	0.00228
NM_015425.6(POLR1A):c.4412A>G (p.Glu1471Gly)	rs61731718	0.00222
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	rs121434529	0.00219
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)	rs147559466	0.00210
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)	rs142021049	0.00204
NM_005559.4(LAMA1):c.1239C>A (p.Asp413Glu)	rs144278838	0.00198
NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile)	rs144662546	0.00189
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00186
NM_000540.3(RYR1):c.9555-9G>A	rs149569999	0.00185
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00184
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	rs137852769	0.00182
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00178
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met)	rs59052554	0.00164
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	rs149617956	0.00158
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	rs181250704	0.00151
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00151
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00149
NM_001378452.1(ITPR1):c.2007-3T>C	rs200335594	0.00148
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	rs150597413	0.00144
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_000718.4(CACNA1B):c.1543+13G>A	rs200007246	0.00140
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	rs150766139	0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00131
NM_152703.5(SAMD9L):c.1372G>T (p.Ala458Ser)	rs140536419	0.00131
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)	rs145457535	0.00123
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)	rs143713841	0.00118
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)	rs147608206	0.00116
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00116
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr)	rs145361311	0.00112
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)	rs200408101	0.00111
NM_005993.5(TBCD):c.1534-4G>A	rs116536514	0.00111
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	rs61732167	0.00111
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)	rs121909548	0.00110
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	rs147136339	0.00110
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	rs11568514	0.00110
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	rs146429605	0.00107
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)	rs192877602	0.00104
NM_006618.5(KDM5B):c.3520G>A (p.Val1174Met)	rs143647342	0.00095
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00093
NM_000489.6(ATRX):c.5787-20G>T	rs185359850	0.00090
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)	rs144567652	0.00088
NM_014975.3(MAST1):c.1906+8C>T	rs149277170	0.00087
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)	rs138016359	0.00085
NM_018082.6(POLR3B):c.3066C>A (p.Ala1022=)	rs145991322	0.00084
NM_022720.7(DGCR8):c.2276C>T (p.Ala759Val)	rs148884257	0.00081
NM_018082.6(POLR3B):c.2796C>T (p.His932=)	rs141030994	0.00080
NM_004366.6(CLCN2):c.370C>T (p.Arg124Trp)	rs139188499	0.00079
NM_001324418.2(ADAM22):c.659C>G (p.Pro220Arg)	rs201142062	0.00076
NM_004366.6(CLCN2):c.2683G>A (p.Asp895Asn)	rs150751460	0.00074
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	rs137932199	0.00073
NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr)	rs78499613	0.00073
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp)	rs201412882	0.00071
NM_001813.3(CENPE):c.4273G>A (p.Gly1425Arg)	rs116330917	0.00069
NM_001399.5(EDA):c.1001G>A (p.Arg334His)	rs142948132	0.00066
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	rs199504211	0.00066
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)	rs144915346	0.00065
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)	rs115047866	0.00064
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	rs146251364	0.00063
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)	rs121912575	0.00061
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)	rs11568513	0.00061
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)	rs149300669	0.00061
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)	rs150526992	0.00060
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00059
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)	rs28364997	0.00057
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	rs138613460	0.00057
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00057
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)	rs141683210	0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)	rs147766428	0.00056
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	rs201230446	0.00054
NM_033109.5(PNPT1):c.223-9A>T	rs202243908	0.00054
NM_020812.4(DOCK6):c.518G>A (p.Arg173Gln)	rs373956807	0.00053
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val)	rs146497334	0.00051
NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly)	rs150801397	0.00050
NM_018082.6(POLR3B):c.2818-14T>C	rs370333143	0.00050
NM_014339.7(IL17RA):c.427C>T (p.Arg143Cys)	rs145378071	0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00047
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)	rs140853839	0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)	rs141813907	0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr)	rs149282970	0.00041
NM_005726.6(TSFM):c.688G>T (p.Val230Leu)	rs151248026	0.00041
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	rs104894845	0.00039
NM_000038.6(APC):c.5690A>C (p.His1897Pro)	rs112610898	0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile)	rs201085386	0.00037
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser)	rs66864704	0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)	rs140076803	0.00036
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	rs202201763	0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	rs34637584	0.00036
NM_000088.4(COL1A1):c.334-5C>A	rs115997082	0.00035
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)	rs137889316	0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=)	rs141013408	0.00033
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)	rs184436336	0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)	rs36111204	0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)	rs201916690	0.00031
NM_000088.4(COL1A1):c.1768-8C>T	rs193922142	0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00030
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile)	rs143587828	0.00030
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)	rs143274889	0.00030
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)	rs149718203	0.00030
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)	rs143335584	0.00029
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	rs138249161	0.00028
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)	rs113994012	0.00027
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)	rs137955225	0.00027
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)	rs35963548	0.00026
NM_016146.6(TRAPPC4):c.454+3A>G	rs375776811	0.00025
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	rs146136265	0.00024
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln)	rs532223684	0.00024
NM_001375524.1(TRRAP):c.634-3C>T	rs113339948	0.00023
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)	rs121912974	0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)	rs79987078	0.00023
NM_020975.6(RET):c.2410G>A (p.Val804Met)	rs79658334	0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)	rs201962592	0.00021
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)	rs950301098	0.00021
NM_022455.5(NSD1):c.6463+8C>A	rs147592452	0.00021
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu)	rs200187663	0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)	rs367685759	0.00019
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)	rs369359789	0.00019
NM_005993.5(TBCD):c.541G>C (p.Ala181Pro)	rs201980005	0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_001854.4(COL11A1):c.1296A>G (p.Ala432=)	rs768321160	0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	rs62638191	0.00018
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)	rs199646208	0.00018
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys)	rs72553876	0.00018
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)	rs780604625	0.00016
NM_012062.5(DNM1L):c.2151A>G (p.Leu717=)	rs149256584	0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	rs139003032	0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00016
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg)	rs201258823	0.00015
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)	rs782339984	0.00015
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val)	rs200167311	0.00015
NM_012062.5(DNM1L):c.285C>T (p.His95=)	rs374173514	0.00015
NM_025137.4(SPG11):c.667+5C>T	rs375485062	0.00015
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)	rs199573774	0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	rs398123084	0.00014
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)	rs201422931	0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	rs142808899	0.00014
NM_003041.4(SLC5A2):c.885+5G>A	rs200228142	0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)	rs201958469	0.00013
NM_000093.5(COL5A1):c.502A>G (p.Ile168Val)	rs112858705	0.00013
NM_005902.4(SMAD3):c.777C>T (p.Gly259=)	rs145414319	0.00013
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe)	rs372356069	0.00013
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu)	rs199730889	0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)	rs146377793	0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr)	rs369215974	0.00012
NM_001386298.1(CIC):c.572G>A (p.Gly191Asp)	rs564911507	0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)	rs150321966	0.00012
NM_006946.4(SPTBN2):c.4959C>T (p.Asp1653=)	rs572061488	0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)	rs143027621	0.00012
NM_001003699.4(RREB1):c.1213G>A (p.Gly405Ser)	rs146744494	0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)	rs116040763	0.00011
NM_001365276.2(TNXB):c.2730G>A (p.Ala910=)	rs564894886	0.00011
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter)	rs759003928	0.00011
NM_001375808.2(LPIN2):c.1169-3C>T	rs200259086	0.00011
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg)	rs772707021	0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	rs121964999	0.00011
NM_018451.5(CPAP):c.634G>T (p.Glu212Ter)	rs765113367	0.00011
NM_019096.5(GTPBP2):c.881-18G>A	rs377499258	0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	rs140511594	0.00011
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp)	rs150566697	0.00011
NM_006371.5(CRTAP):c.471+2C>A	rs137853943	0.00010
NM_032119.4(ADGRV1):c.13757A>G (p.Glu4586Gly)	rs371917393	0.00010
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)	rs146392305	0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)	rs80358768	0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	rs200960659	0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val)	rs140175796	0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter)	rs377708973	0.00009
NM_001395891.1(CLASP1):c.196-591C>T	rs756026847	0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)	rs121434410	0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)	rs375032130	0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)	rs758719669	0.00009
NM_014967.5(FAN1):c.2854C>T (p.Arg952Ter)	rs184745027	0.00009
NM_019594.4(LRRC8A):c.2113G>A (p.Gly705Ser)	rs766749712	0.00009
NM_030665.4(RAI1):c.5366G>A (p.Arg1789Gln)	rs368587743	0.00009
NM_170606.3(KMT2C):c.6910A>G (p.Met2304Val)	rs754015217	0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)	rs199473072	0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	rs762780994	0.00008
NM_005989.4(AKR1D1):c.242A>T (p.Asp81Val)	rs567335712	0.00008
NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly)	rs138866758	0.00008
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00008
NM_025009.5(CEP135):c.3320G>A (p.Arg1107Gln)	rs745603844	0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000138.5(FBN1):c.4582+3A>G	rs777845323	0.00007
NM_000431.4(MVK):c.346T>C (p.Tyr116His)	rs104895382	0.00007
NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr)	rs763065439	0.00007
NM_001379451.1(BCORL1):c.472G>A (p.Gly158Arg)	rs376946512	0.00007
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro)	rs200499648	0.00007
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser)	rs587780106	0.00007
NM_004736.4(XPR1):c.1975C>T (p.Arg659Trp)	rs200954931	0.00007
NM_005006.7(NDUFS1):c.1393-2A>C	rs370009373	0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	rs189150283	0.00007
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)	rs142375551	0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu)	rs150734953	0.00007
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)	rs112626848	0.00007
NM_000163.5(GHR):c.1802_1803del (p.Val601fs)	rs777688795	0.00006
NM_000179.3(MSH6):c.1162C>G (p.His388Asp)	rs770386388	0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)	rs201539845	0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)	rs121964921	0.00006
NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu)	rs572292275	0.00006
NM_001042750.2(STAG2):c.1821+7T>C	rs768977301	0.00006
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu)	rs376324027	0.00006
NM_001348768.2(HECW2):c.1240G>C (p.Asp414His)	rs764436402	0.00006
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)	rs761989177	0.00006
NM_006516.4(SLC2A1):c.1108G>A (p.Val370Met)	rs751573593	0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His)	rs142096113	0.00006
NM_017934.7(PHIP):c.2667A>T (p.Lys889Asn)	rs756471447	0.00006
NM_018122.5(DARS2):c.396+2T>G	rs759123043	0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)	rs542429051	0.00006
NM_152906.7(TANGO2):c.605+1G>A	rs372949028	0.00006
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)	rs201958741	0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His)	rs121913132	0.00005
NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr)	rs121912525	0.00005
NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg)	rs148499544	0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_000528.4(MAN2B1):c.2046+2T>A	rs748712495	0.00005
NM_001134665.3(TRMT10A):c.226C>T (p.Arg76Ter)	rs748994888	0.00005
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His)	rs199960045	0.00005
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu)	rs374071862	0.00005
NM_005213.4(CSTA):c.172C>T (p.Arg58Ter)	rs149474339	0.00005
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	rs145034527	0.00005
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)	rs752143061	0.00005
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)	rs759513934	0.00005
NM_000211.5(ITGB2):c.897+1G>A	rs201752283	0.00004
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)	rs992677795	0.00004
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln)	rs977717858	0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)	rs142864491	0.00004
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)	rs527236068	0.00004
NM_001170629.2(CHD8):c.6539G>A (p.Arg2180His)	rs778904376	0.00004
NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys)	rs531230573	0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs)	rs397514395	0.00004
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)	rs369503365	0.00004
NM_006772.3(SYNGAP1):c.2111G>A (p.Ser704Asn)	rs775884756	0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)	rs780761368	0.00004
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)	rs770654508	0.00004
NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met)	rs199542988	0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)	rs775076977	0.00004
NM_031307.4(PUS3):c.1A>G (p.Met1Val)	rs543614309	0.00004
NM_032608.7(MYO18B):c.2677G>T (p.Asp893Tyr)	rs372933587	0.00004
NM_145691.4(ATPAF2):c.133+1G>T	rs147941728	0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)	rs768633670	0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714	0.00003
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)	rs80359041	0.00003
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)	rs80359194	0.00003
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)	rs751960243	0.00003
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	rs760768475	0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)	rs776948121	0.00003
NM_000170.3(GLDC):c.2665+1G>C	rs149070244	0.00003
NM_000255.4(MMUT):c.1084-10A>G	rs777031588	0.00003
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)	rs201032007	0.00003
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)	rs878853996	0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	rs774723292	0.00003
NM_000719.7(CACNA1C):c.50-3C>T	rs780161540	0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)	rs137853859	0.00003
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	rs747993448	0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)	rs201951824	0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	rs398122965	0.00003
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val)	rs727503659	0.00003
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)	rs375657115	0.00003
NM_001278116.2(L1CAM):c.3322+11G>A	rs1372534909	0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)	rs758195453	0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)	rs781050795	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)	rs370228071	0.00003
NM_004944.4(DNASE1L3):c.317del (p.Tyr106fs)	rs1164270727	0.00003
NM_005535.3(IL12RB1):c.517C>T (p.Arg173Trp)	rs144702323	0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)	rs80356740	0.00003
NM_016111.4(TELO2):c.1207C>T (p.Arg403Ter)	rs572431474	0.00003
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter)	rs377600857	0.00003
NM_025233.7(COASY):c.778C>T (p.Pro260Ser)	rs756141692	0.00003
NM_033118.4(MYLK2):c.1702C>T (p.Arg568Cys)	rs772716379	0.00003
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)	rs201088736	0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)	rs544215765	0.00003
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser)	rs782299720	0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)	rs386833430	0.00002
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)	rs376643618	0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)	rs587780687	0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)	rs397516063	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)	rs746834464	0.00002
NM_001128126.3(AP4S1):c.295-3C>A	rs185246578	0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)	rs74419361	0.00002
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter)	rs782074040	0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)	rs751604696	0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)	rs745918507	0.00002
NM_002528.7(NTHL1):c.115+1G>A	rs749908882	0.00002
NM_002772.3(TMPRSS15):c.2611C>T (p.Arg871Ter)	rs767258888	0.00002
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer)	rs763413730	0.00002
NM_003126.4(SPTA1):c.4580C>G (p.Ser1527Cys)	rs746382885	0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)	rs770931871	0.00002
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu)	rs770633648	0.00002
NM_005629.4(SLC6A8):c.497C>T (p.Thr166Met)	rs1479462836	0.00002
NM_005732.4(RAD50):c.282A>G (p.Ile94Met)	rs786202847	0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)	rs1443751733	0.00002
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr)	rs58916399	0.00002
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln)	rs769369302	0.00002
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln)	rs753635972	0.00002
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe)	rs370551247	0.00002
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)	rs780124402	0.00002
NM_018489.3(ASH1L):c.5416C>G (p.Gln1806Glu)	rs753698911	0.00002
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)	rs775295739	0.00002
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)	rs1260264247	0.00002
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter)	rs568207978	0.00002
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)	rs746953590	0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	rs587776527	0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)	rs121917882	0.00002
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)	rs576405108	0.00002
NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser)	rs749464475	0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	rs148617572	0.00002
NM_153717.3(EVC):c.2782+1G>T	rs1007534611	0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=)	rs587777187	0.00002
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)	rs199810179	0.00001
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala)	rs587782021	0.00001
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)	rs80359152	0.00001
NM_000094.4(COL7A1):c.2016G>C (p.Glu672Asp)	rs754341326	0.00001
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln)	rs80051519	0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer)	rs1207177925	0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)	rs782198570	0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)	rs780825099	0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	rs387906952	0.00001
NM_000153.4(GALC):c.869G>A (p.Arg290His)	rs746806459	0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)	rs111033737	0.00001
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)	rs760155287	0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)	rs758503371	0.00001
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln)	rs745809543	0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)	rs369568820	0.00001
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)	rs587781983	0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter)	rs121912524	0.00001
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp)	rs121434561	0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	rs753392652	0.00001
NM_000277.3(PAH):c.307G>T (p.Gly103Cys)	rs752792040	0.00001
NM_000277.3(PAH):c.938C>T (p.Ala313Val)	rs62642914	0.00001
NM_000297.4(PKD2):c.1319+1G>A	rs1131692280	0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)	rs1032781250	0.00001
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)	rs121913551	0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)	rs201853046	0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	rs199590449	0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His)	rs80338819	0.00001
NM_000521.4(HEXB):c.1614-16_1622dup	rs756912360	0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)	rs938611392	0.00001
NM_000527.4(LDLR):c.313+1G>A	rs112029328	0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	rs28942079	0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	rs121912664	0.00001
NM_000546.6(TP53):c.672+6G>T	rs766856111	0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	rs193922608	0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met)	rs121908047	0.00001
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp)	rs267607046	0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)	rs730881151	0.00001
NM_001101.5(ACTB):c.478A>G (p.Thr160Ala)	rs1784814961	0.00001
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter)	rs1418085145	0.00001
NM_001128126.3(AP4S1):c.294+1G>T	rs886041127	0.00001
NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter)	rs994917847	0.00001
NM_001145026.2(PTPRQ):c.1363A>G (p.Ile455Val)	rs1894506287	0.00001
NM_001163435.3(TBCK):c.247C>T (p.Arg83Ter)	rs763057505	0.00001
NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=)	rs766944646	0.00001
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter)	rs1441434215	0.00001
NM_001278064.2(GRM1):c.3300C>A (p.Ser1100Arg)	rs1227591846	0.00001
NM_001322934.2(NFKB2):c.2598T>C (p.Ser866=)	rs1350425608	0.00001
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter)	rs781748056	0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)	rs769218623	0.00001
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu)	rs878910680	0.00001
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)	rs1024254683	0.00001
NM_001378615.1(CC2D2A):c.2486+1G>C	rs386833747	0.00001
NM_001379210.1(SLC25A26):c.33+1G>A	rs781798317	0.00001
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)	rs368682034	0.00001
NM_001457.4(FLNB):c.3269A>G (p.Asn1090Ser)	rs755713308	0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	rs199839840	0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)	rs1270099780	0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)	rs1057516424	0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)	rs776340315	0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly)	rs922800309	0.00001
NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)	rs1376336723	0.00001
NM_004211.5(SLC6A5):c.2070+1G>A	rs770660705	0.00001
NM_004525.3(LRP2):c.2639+1G>A	rs746752313	0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	rs386833920	0.00001
NM_004656.4(BAP1):c.250C>T (p.His84Tyr)	rs1338231889	0.00001
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs)	rs754121759	0.00001
NM_005101.4(ISG15):c.83T>A (p.Leu28Gln)	rs1245686232	0.00001
NM_005148.4(UNC119):c.231C>T (p.Cys77=)	rs1037207765	0.00001
NM_005529.7(HSPG2):c.8646G>T (p.Gln2882His)	rs548583670	0.00001
NM_005559.4(LAMA1):c.3099G>A (p.Trp1033Ter)	rs769655038	0.00001
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)	rs1247689593	0.00001
NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)	rs895752312	0.00001
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter)	rs1406678014	0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)	rs1201878175	0.00001
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter)	rs149010496	0.00001
NM_006516.4(SLC2A1):c.865G>A (p.Ala289Thr)	rs796053252	0.00001
NM_006618.5(KDM5B):c.1321C>T (p.Arg441Ter)	rs527951173	0.00001
NM_006766.5(KAT6A):c.661G>A (p.Glu221Lys)	rs774910975	0.00001
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)	rs756949505	0.00001
NM_007294.4(BRCA1):c.4986+6T>C	rs80358086	0.00001
NM_007317.3(KIF22):c.496C>T (p.Arg166Trp)	rs767054899	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_014339.7(IL17RA):c.582G>A (p.Thr194=)	rs774719700	0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	rs121918329	0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	rs762947018	0.00001
NM_014363.6(SACS):c.3060A>G (p.Leu1020=)	rs746764976	0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs)	rs1057516766	0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile)	rs281875310	0.00001
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)	rs267606740	0.00001
NM_015570.4(AUTS2):c.2890C>G (p.Pro964Ala)	rs772666638	0.00001
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00001
NM_016138.5(COQ7):c.3G>T (p.Met1Ile)	rs746489573	0.00001
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)	rs752478913	0.00001
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter)	rs200567842	0.00001
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg)	rs746166328	0.00001
NM_017534.6(MYH2):c.4537+1G>A	rs567336764	0.00001
NM_017755.6(NSUN2):c.1222C>T (p.Arg408Ter)	rs1221890051	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_018075.5(ANO10):c.2T>C (p.Met1Thr)	rs531656357	0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)	rs199422194	0.00001
NM_018263.6(ASXL2):c.2190A>C (p.Glu730Asp)	rs1287433846	0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)	rs121964927	0.00001
NM_020166.5(MCCC1):c.492-4A>G	rs908545297	0.00001
NM_020320.5(RARS2):c.407T>C (p.Val136Ala)	rs1057519014	0.00001
NM_020699.4(GATAD2B):c.874A>G (p.Met292Val)	rs138922965	0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)	rs119485088	0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	rs1014835928	0.00001
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)	rs746582620	0.00001
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)	rs515726103	0.00001
NM_024675.4(PALB2):c.560C>A (p.Pro187His)	rs371582757	0.00001
NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter)	rs1364192556	0.00001
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)	rs200876642	0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)	rs515726205	0.00001
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)	rs1046992728	0.00001
NM_033310.3(KCNK4):c.264G>A (p.Trp88Ter)	rs1197665953	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs)	rs779009256	0.00001
NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser)	rs886037834	0.00001
NM_153717.3(EVC):c.1777-1G>A	rs1262933856	0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu)	rs936922976	0.00001
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NM_000018.4(ACADVL):c.139-1G>C	rs1597518019
NM_000018.4(ACADVL):c.192del (p.Lys64fs)	rs771055189
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)	rs2148389513
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	rs121913224
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)	rs778993919
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys)	rs1925886715
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)	rs1451472748
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.4695del (p.Pro1566fs)	rs1057517452
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)	rs587782847
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	rs587780645
NM_000057.4(BLM):c.1544dup (p.Asn515fs)	rs367543043
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)	rs276174813
NM_000059.4(BRCA2):c.738del (p.Phe246fs)	rs1566221413
NM_000059.4(BRCA2):c.8488-1G>A	rs397507404
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)	rs128621209
NM_000064.4(C3):c.3489+2T>C	rs112977278
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)	rs794727697
NM_000074.3(CD40LG):c.158_161del
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)	rs2522118643
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)	rs1227624153
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)	rs72656394
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys)	rs1055680335
NM_000096.4(CP):c.1036+15C>T	rs2472844885
NM_000101.4(CYBA):c.204-4C>A	rs377055239
NM_000126.4(ETFA):c.242A>C (p.His81Pro)	rs972293793
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	rs137852416
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)	rs748856769
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)	rs140593
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	rs28933068
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)	rs746922378
NM_000159.4(GCDH):c.91+5G>A	rs952356983
NM_000179.3(MSH6):c.1866dup (p.Pro623fs)	rs2104372581
NM_000202.8(IDS):c.104-2A>G	rs2089505773
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)	rs113993949
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	rs104894860
NM_000203.5(IDUA):c.1395del (p.Gly466fs)	rs1386109118
NM_000214.3(JAG1):c.1657del (p.Glu553fs)	rs2514516613
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)	rs2514526708
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)	rs149452625
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)	rs121913507
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)	rs777672897
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)	rs11466026
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)	rs727504287
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)	rs371564200
NM_000270.4(PNP):c.520G>C (p.Ala174Pro)	rs104894454
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)	rs2124419087
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)	rs62508692
NM_000282.4(PCCA):c.1994dup (p.Met666fs)	rs1323994245
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)	rs137853250
NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)	rs2518508058
NM_000285.4(PEPD):c.692_694del (p.Tyr231del)	rs745834191
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)	rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)	rs1324893950
NM_000293.3(PHKB):c.1972-2A>G	rs964263812
NM_000293.3(PHKB):c.570_576delinsAC (p.Gln191fs)	rs2151651792
NM_000297.4(PKD2):c.2178dup (p.Glu727fs)	rs2475979108
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000314.8(PTEN):c.39_40del (p.Arg14fs)	rs587776671
NM_000321.3(RB1):c.381-1G>A	rs1566186836
NM_000341.4(SLC3A1):c.679C>T (p.Arg227Trp)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)	rs779956047
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)	rs759845943
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	rs137853097
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	rs75068032
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)	rs753104429
NM_000465.4(BARD1):c.1758del (p.Ser586fs)	rs1559387024
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)	rs1057517589
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del)	rs121912681
NM_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)	rs730882108
NM_000546.6(TP53):c.97-1G>T	rs1597375294
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)	rs5030648
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)	rs1057519004
NM_000944.5(PPP3CA):c.1366G>T (p.Glu456Ter)	rs1726803653
NM_001002295.2(GATA3):c.1201_1202del (p.Met401fs)	rs1085307641
NM_001005273.3(CHD3):c.4243C>T (p.Arg1415Cys)	rs2545062256
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	rs587783595
NM_001006658.3(CR2):c.624dup (p.Thr209fs)	rs747832403
NM_001009944.3(PKD1):c.4499G>A (p.Trp1500Ter)
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg)	rs104893989
NM_001025295.3(IFITM5):c.-14C>T	rs587776916
NM_001032221.6(STXBP1):c.1110+2T>G	rs2538559195
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	rs796053353
NM_001032221.6(STXBP1):c.579-1G>A	rs1588317190
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)	rs1553578503
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)	rs386833715
NM_001042492.3(NF1):c.1260+2T>G	rs1555611110
NM_001042492.3(NF1):c.204+3_204+6del	rs1567814632
NM_001042492.3(NF1):c.2326-1G>T	rs1567848100
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)	rs199474732
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)	rs199474789
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)	rs199474750
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)	rs2508696394
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	rs587778536
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)	rs104895271
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)	rs1057521250
NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro)	rs863224939
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln)	rs2125194268
NM_001080517.3(SETD5):c.1459G>T (p.Glu487Ter)	rs369459846
NM_001082971.2(DDC):c.1055del (p.Pro352fs)	rs2042497215
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)	rs61748420
NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro)	rs987032967
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)	rs2131885751
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs)	rs781020381
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met)	rs962267153
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)	rs2141424841
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)	rs776059611
NM_001165963.4(SCN1A):c.4073G>A (p.Trp1358Ter)	rs121917961
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp)	rs756519197
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)	rs1602544454
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys)	rs878853277
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp)	rs1555038090
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter)	rs200497972
NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr)	rs886039819
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)	rs1559314812
NM_001282426.2(PIK3CG):c.2545C>T (p.Arg849Ter)
NM_001282531.3(ADNP):c.64dup (p.Ile22fs)	rs1982229334
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)	rs1064795559
NM_001318852.2(MAPK8IP3):c.2221T>C (p.Cys741Arg)	rs1417684145
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)	rs122460157
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)	rs2147145565
NM_001330288.2(SMARCC2):c.1353C>T (p.Asn451=)	rs965519704
NM_001347721.2(DYRK1A):c.250_251del (p.Leu84fs)	rs2148571595
NM_001348768.2(HECW2):c.2499G>A (p.Thr833=)	rs369287403
NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val)	rs1064795382
NM_001349338.3(FOXP1):c.1426_1428+1del	rs1575803923
NM_001352027.3(PHF21A):c.1889A>G (p.Asp630Gly)	rs1590864380
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)	rs796052231
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs)	rs1009807148
NM_001364905.1(LRBA):c.8468+10del	rs1454498033
NM_001374828.1(ARID1B):c.2440G>T (p.Val814Leu)	rs765365713
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)	rs886041706
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter)	rs1028186690
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)	rs794727634
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)	rs771325235
NM_001378183.1(PIEZO2):c.4775_4778del (p.Lys1592fs)	rs2510489205
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	rs797044955
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)	rs606231461
NM_001378615.1(CC2D2A):c.4315-6_4315-3del	rs926806639
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)	rs1571636501
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup)	rs776051221
NM_001385.3(DPYS):c.1506del (p.Arg503fs)	rs79080341
NM_001429.3(EP300):c.3857A>G	rs1555910821
NM_001429.4(EP300):c.3671+1G>A	rs2059103511
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)	rs587778256
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile)	rs281875325
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys)	rs587777385
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp)	rs879255584
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)	rs886043354
NM_001854.4(COL11A1):c.3762G>C (p.Lys1254Asn)	rs2101066494
NM_001940.4(ATN1):c.1464GCA[11] (p.Gln499_Gln502del)	rs60216939
NM_001943.5(DSG2):c.882dup (p.Val295fs)	rs1187924885
NM_001953.5(TYMP):c.928+1G>A	rs1064792876
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs)	rs761519693
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	rs138726443
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786
NM_002074.5(GNB1):c.343G>A (p.Gly115Ser)	rs1646670170
NM_002074.5(GNB1):c.347G>A (p.Gly116Asp)	rs1646670079
NM_002185.5(IL7R):c.41T>C (p.Leu14Ser)	rs1759661333
NM_002435.3(MPI):c.796G>A (p.Glu266Lys)	rs1595822583
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)	rs121913617
NM_002485.5(NBN):c.156_157del (p.Ser53fs)	rs767454740
NM_002615.7(SERPINF1):c.1152_1170del (p.Phe384fs)	rs869312908
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	rs121918049
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002816.5(PSMD12):c.430C>T (p.Arg144Ter)	rs2041990527
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002880.4(RAF1):c.788T>C (p.Val263Ala)	rs397516830
NM_003011.4(SET):c.204dup (p.Gln69fs)
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)	rs1131691302
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003119.4(SPG7):c.292_295del (p.Thr98fs)
NM_003126.4(SPTA1):c.83G>A (p.Arg28His)	rs121918641
NM_003128.3(SPTBN1):c.474+1G>T
NM_003193.5(TBCE):c.636_639del (p.Asn212fs)	rs1226347591
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)	rs587783704
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs)	rs886043506
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)	rs587780563
NM_003620.4(PPM1D):c.1599C>G (p.Asn533Lys)	rs996571214
NM_003721.4(RFXANK):c.481del (p.Leu161fs)	rs2146492780
NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg)	rs1589880497
NM_004183.4(BEST1):c.1100+1G>C	rs1434513582
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter)	rs996949678
NM_004260.4(RECQL4):c.1483+27_1483+37del	rs1365691434
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)	rs113994087
NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser)	rs397507473
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004423.4(DVL3):c.1715-1G>A	rs869025217
NM_004429.5(EFNB1):c.101_114del (p.Pro34fs)	rs879255545
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)	rs754418186
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)	rs1561251388
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_004544.4(NDUFA10):c.76-2A>G	rs917371150
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu)	rs104894630
NM_004859.4(CLTC):c.4570_4571del (p.Ser1524fs)
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter)	rs763353895
NM_004974.4(KCNA2):c.925A>G (p.Arg309Gly)	rs2101398407
NM_004975.4(KCNB1):c.949C>T (p.Leu317Phe)	rs2516851941
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423
NM_005035.4(POLRMT):c.3459C>G (p.Tyr1153Ter)	rs200224860
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)	rs1553657429
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)	rs2133788907
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs)	rs763401560
NM_005476.7(GNE):c.788G>T (p.Arg263Leu)	rs121908623
NM_005515.4(MNX1):c.852+1G>A	rs1563700419
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258
NM_005618.4(DLL1):c.845del (p.Gly282fs)	rs760008381
NM_005629.4(SLC6A8):c.1767+15C>A	rs370331295
NM_005859.5(PURA):c.305T>C (p.Leu102Pro)	rs793888531
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)	rs797045076
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del)	rs752461187
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	rs1057517843
NM_006060.6(IKZF1):c.548G>A (p.Arg183His)	rs1812172495
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)	rs207482230
NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His)	rs1762178916
NM_006371.5(CRTAP):c.1020C>G (p.Tyr340Ter)	rs768954904
NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro)	rs1405064021
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)	rs549586181
NM_006494.4(ERF):c.248G>A (p.Arg83Gln)	rs758855122
NM_006545.5(NPRL2):c.932+1G>A	rs1703621639
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	rs869312704
NM_006618.5(KDM5B):c.775C>T (p.Arg259Ter)	rs776299767
NM_006772.3(SYNGAP1):c.1532-3C>G	rs1561785573
NM_006772.3(SYNGAP1):c.2266C>T (p.Gln756Ter)	rs1554121960
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs)	rs1761087122
NM_006772.3(SYNGAP1):c.388-3C>G	rs1448169616
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
NM_007059.4(KPTN):c.184dup (p.Ile62fs)	rs1243527780
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)	rs1554065887
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs)	rs752676391
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])	rs587780181
NM_007294.4(BRCA1):c.5074+2T>C	rs80358089
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)	rs193922921
NM_012079.6(DGAT1):c.629_631del (p.Ser210del)	rs782577883
NM_012448.4(STAT5B):c.90G>A (p.Val30=)	rs2144296728
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	rs886039734
NM_013275.6(ANKRD11):c.3319_3322del (p.Lys1107fs)	rs2151755532
NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs)	rs1567572265
NM_013275.6(ANKRD11):c.4107_4108del (p.Lys1370fs)	rs2544234255
NM_013275.6(ANKRD11):c.6688_6689del (p.Arg2230fs)	rs1597436476
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)	rs2033533123
NM_013335.4(GMPPA):c.199C>T (p.Gln67Ter)
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)	rs2147938135
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr)	rs122467170
NM_014023.4(WDR37):c.1103+10G>A	rs377333387
NM_014049.5(ACAD9):c.359del (p.Phe120fs)	rs863224844
NM_014231.5(VAMP1):c.340del (p.Ile114fs)	rs746220436
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_014264.5(PLK4):c.1442G>T (p.Gly481Val)	rs1409755064
NM_014268.4(MAPRE2):c.517C>T (p.Arg173Ter)	rs2523915648
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)	rs878853282
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)	rs1057517294
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)	rs747868017
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	rs752059006
NM_014444.5(TUBGCP4):c.223C>T (p.Gln75Ter)	rs2142767103
NM_014516.4(CNOT3):c.563G>A (p.Arg188His)	rs2146595244
NM_014915.3(ANKRD26):c.-118C>T	rs1589393759
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_015015.3(KDM4B):c.288C>T (p.Gly96=)	rs1395918076
NM_015202.5(KATNIP):c.27dup (p.Glu10fs)	rs1283389193
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	rs750318549
NM_015443.4(KANSL1):c.2837+2T>C	rs975947508
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)	rs1554480537
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn)	rs2124105757
NM_016138.5(COQ7):c.635_636del (p.Tyr212fs)	rs2142400288
NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)	rs2083259164
NM_016312.3(WBP11):c.612del (p.Gly205fs)	rs1949868116
NM_016341.4(PLCE1):c.3338_3339del (p.Lys1113fs)	rs918508213
NM_016373.4(WWOX):c.107+1G>A	rs1300924648
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)	rs587777127
NM_016532.4(INPP5K):c.881_883del (p.Ser294del)	rs765015650
NM_016580.4(PCDH12):c.669dup (p.Lys224fs)	rs776111123
NM_017570.5(OPLAH):c.1971C>T (p.Pro657=)	rs1373642781
NM_017646.6(TRIT1):c.334del (p.Arg112fs)	rs536000212
NM_017763.6(RNF43):c.1976dup (p.Pro660fs)	rs755128667
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)	rs531916765
NM_017849.4(TMEM127):c.410-2A>C	rs121908826
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_018122.5(DARS2):c.228-16C>A	rs778731200
NM_018990.4(SASH3):c.505C>T (p.Gln169Ter)	rs2124082775
NM_019066.5(MAGEL2):c.1996C>T (p.Gln666Ter)	rs752097874
NM_020134.4(DPYSL5):c.73G>A (p.Glu25Lys)
NM_020338.4(ZMIZ1):c.3150dup (p.Asp1051fs)	rs762162611
NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg)	rs1566591073
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)	rs2136431608
NM_020686.6(ABAT):c.1128C>G (p.Tyr376Ter)	rs2549115450
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp)	rs752514808
NM_020822.3(KCNT1):c.1420C>A (p.Arg474Ser)	rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	rs397515404
NM_020964.3(EPG5):c.6020_6021del (p.Cys2007fs)	rs1064795230
NM_020975.6(RET):c.1759+1G>A	rs2132817885
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)	rs146646971
NM_020987.5(ANK3):c.2502G>A (p.Met834Ile)	rs2132296500
NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)	rs1767437018
NM_021922.3(FANCE):c.524dup (p.Arg176fs)	rs773363446
NM_021922.3(FANCE):c.929dup (p.Val311fs)	rs587778337
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)	rs2149845949
NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter)	rs957683798
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)	rs121907903
NM_024426.6(WT1):c.1447+4C>T	rs587776577
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter)	rs1566786613
NM_024570.4(RNASEH2B):c.511-1G>A	rs944032875
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)	rs1434577015
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)	rs536644825
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)	rs1565809409
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	rs786204671
NM_024757.5(EHMT1):c.1533_1536del (p.Asp512fs)	rs137852716
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln)	rs1342402816
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)	rs768112611
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)	rs868044680
NM_030665.4(RAI1):c.176A>G (p.Tyr59Cys)	rs1240460489
NM_031844.3(HNRNPU):c.643_652del (p.Lys215fs)	rs2527894074
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter)	rs869312701
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter)	rs1603275438
NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter)	rs2145342438
NM_032271.3(TRAF7):c.1798G>A (p.Gly600Ser)	rs2141298527
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter)	rs2068718016
NM_033629.6(TREX1):c.150_151del (p.Gln51fs)	rs770607110
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)	rs777034646
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)	rs541633673
NM_052867.4(NALCN):c.4004G>A (p.Ser1335Asn)	rs2139471533
NM_053274.3(GLMN):c.971dup (p.Leu324fs)	rs2100916637
NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly)	rs1555593745
NM_078480.3(PUF60):c.505C>T (p.His169Tyr)	rs398123001
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs)	rs2148850717
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)	rs763706988
NM_133433.4(NIPBL):c.7744C>T (p.Arg2582Ter)
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	rs146649803
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_139058.3(ARX):c.30C>A (p.Cys10Ter)	rs794726959
NM_139058.3(ARX):c.596C>G (p.Thr199Arg)	rs1268774120
NM_144687.4(NLRP12):c.575del (p.Ser192fs)	rs1255447565
NM_145698.5(ACBD5):c.1467G>A (p.Trp489Ter)	rs1564574359
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter)	rs2130918298
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)	rs1560708847
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)	rs2122235362
NM_176787.5(PIGN):c.817dup (p.Ala273fs)	rs1486949098
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys)	rs869312849
NM_182641.4(BPTF):c.3467C>T (p.Thr1156Ile)
NM_182641.4(BPTF):c.5738A>C (p.Glu1913Ala)
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)	rs794727577
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	rs1554205541
NM_183381.3(RNF13):c.882dup (p.Asp295Ter)
NM_198503.5(KCNT2):c.3055C>T (p.Arg1019Ter)	rs1035700995
NM_198535.3(ZNF699):c.1327C>T (p.Arg443Ter)
Single allele