Variants from 3billion with conflicting interpretations

Minimum review status of the submission from 3billion:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from 3billion:	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
8217	2804	11	2061	266	15	699	2827

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
3billion		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	association not found	drug response	protective	other
	pathogenic	11	1290	146	5	1	4	0	1	1	0	1
	likely pathogenic	769	0	239	3	4	1	2	0	2	2	0
	uncertain significance	117	231	0	27	12	1	0	0	0	0	0
	likely benign	1	6	231	0	1	0	0	0	0	0	0
	benign	0	0	1	1	0	0	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	1344	4	283	133	0	112	532
OMIM	0	1168	5	269	2	6	36	318
Fulgent Genetics, Fulgent Genetics	0	575	0	175	47	0	41	263
Baylor Genetics	0	721	0	167	18	0	35	220
Counsyl	0	214	0	154	3	0	43	200
Revvity Omics, Revvity	0	441	0	110	25	0	35	170
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	274	0	98	7	0	47	152
Natera, Inc.	0	553	0	102	15	0	32	149
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	582	0	117	1	0	16	134
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	510	0	75	7	0	28	110
Genome-Nilou Lab	0	333	0	84	12	0	12	108
Illumina Laboratory Services, Illumina	0	242	0	42	39	0	16	97
Institute of Human Genetics, University of Leipzig Medical Center	0	330	0	63	3	0	19	85
Mendelics	0	237	0	54	8	0	20	82
Neuberg Centre For Genomic Medicine, NCGM	0	284	0	51	2	0	17	70
Juno Genomics, Hangzhou Juno Genomics, Inc	0	248	0	53	0	0	14	67
Department of Pathology and Laboratory Medicine, Sinai Health System	0	125	2	33	6	0	23	64
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	116	0	37	2	0	8	47
Myriad Genetics, Inc.	0	165	0	39	0	0	8	47
Variantyx, Inc.	0	202	0	42	0	0	4	46
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	86	0	33	2	0	10	45
MGZ Medical Genetics Center	0	173	0	31	1	0	10	42
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	138	0	30	1	0	10	41
GeneDx	0	121	0	24	0	0	12	35
Solve-RD Consortium	0	8	0	34	0	0	0	34
Genetic Services Laboratory, University of Chicago	0	134	0	27	1	0	5	33
Genomics England Pilot Project, Genomics England	0	35	0	32	0	0	0	32
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	119	0	20	0	0	9	29
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	124	0	27	0	0	2	29
Ambry Genetics	0	26	0	5	20	0	3	28
SIB Swiss Institute of Bioinformatics	0	39	0	25	1	0	2	28
SingHealth Duke-NUS Institute of Precision Medicine	0	19	0	24	1	0	3	28
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	46	0	19	0	0	8	27
Institute of Human Genetics Munich, TUM University Hospital	0	209	0	22	0	0	5	27
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	164	0	24	0	1	2	27
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	90	0	24	0	0	2	26
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	74	0	22	0	0	3	25
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	114	0	22	0	0	2	24
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	55	0	21	0	0	2	23
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	48	0	13	0	0	9	22
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	118	0	19	0	0	2	21
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	3	0	16	0	0	5	21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	87	0	12	4	0	4	20
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	105	0	16	0	0	4	20
CeGaT Center for Human Genetics Tuebingen	0	50	0	12	0	0	8	20
Medical and Scientific Branch, Hong Kong Genome Institute	0	47	0	15	0	0	4	19
New York Genome Center	0	57	0	13	2	0	4	19
Johns Hopkins Genomics, Johns Hopkins University	0	45	0	10	2	0	6	18
Ocular Genomics Institute, Massachusetts Eye and Ear	0	38	0	14	0	0	4	18
Department of Human Genetics, Hannover Medical School	0	75	0	14	0	0	2	16
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	15	0	10	0	0	6	16
Molecular Biology Laboratory, Fundació Puigvert	0	10	0	15	0	0	0	15
Undiagnosed Diseases Network, NIH	0	44	0	13	0	0	2	15
Breakthrough Genomics, Breakthrough Genomics	0	26	0	11	0	0	3	14
LDLR-LOVD, British Heart Foundation	0	8	0	10	0	0	4	14
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	9	0	13	0	0	1	14
Institute of Medical Molecular Genetics, University of Zurich	0	5	0	12	0	0	1	13
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	6	0	11	0	0	2	13
NIHR Bioresource Rare Diseases, University of Cambridge	0	13	0	13	0	0	0	13
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	80	0	13	0	0	0	13
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	0	36	0	10	0	0	2	12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	63	0	10	0	0	2	12
Blueprint Genetics	0	33	0	9	0	0	2	11
GeneReviews	0	405	0	7	1	0	3	11
Genetics and Molecular Pathology, SA Pathology	0	97	0	9	0	0	2	11
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	0	7	0	10	0	0	1	11
PreventionGenetics, part of Exact Sciences	0	45	0	7	0	0	4	11
Eurofins Ntd Llc (ga)	0	31	0	4	0	0	6	10
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	37	0	7	0	0	3	10
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	23	0	6	3	0	1	10
Kariminejad - Najmabadi Pathology & Genetics Center	0	22	0	10	0	0	0	10
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	3	0	10	0	0	0	10
Precision Medicine Center, Zhengzhou University	0	11	0	6	0	0	4	10
Suma Genomics	0	34	0	4	0	0	6	10
UCLA Clinical Genomics Center, UCLA	0	8	0	10	0	0	0	10
All of Us Research Program, National Institutes of Health	0	40	0	6	0	0	3	9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	38	0	7	0	0	2	9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	30	0	8	0	0	1	9
Dasa	0	94	0	8	0	0	1	9
Department of Genetics, Sultan Qaboos University Hospital	0	34	0	6	0	0	3	9
Dubai Health Genomic Medicine Center, Dubai Health	0	58	0	6	2	0	1	9
Genomic Medicine Lab, University of California San Francisco	0	22	0	7	0	0	2	9
Lifecell International Pvt. Ltd	0	40	0	7	1	0	1	9
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	17	0	6	1	0	1	8
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	61	0	6	0	0	2	8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	27	0	8	0	0	0	8
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	32	0	6	0	0	2	8
Institute of Human Genetics, Cologne University	0	10	0	3	1	0	4	8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	28	0	7	0	0	1	8
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	22	0	8	0	0	0	8
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	12	0	6	0	0	2	8
OLLIN Analises Genomicas, OLLIN	0	34	0	4	0	0	4	8
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	23	0	7	0	0	1	8
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	5	0	3	0	0	4	7
ClinGen PAH Variant Curation Expert Panel	0	25	0	6	0	0	1	7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	46	0	7	0	0	0	7
Clinical Genomics Laboratory, Stanford Medicine	0	26	0	3	1	0	3	7
Division of Human Genetics, Children's Hospital of Philadelphia	0	22	0	6	0	0	1	7
Fundacion Hipercolesterolemia Familiar	0	3	0	3	0	0	4	7
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	22	0	7	0	0	0	7
Genomenon, Inc, Genomenon, Inc	0	16	0	2	2	0	3	7
Hadassah Hebrew University Medical Center	0	16	0	5	0	0	2	7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	27	0	6	0	0	1	7
Inherited Neuropathy Consortium Ii, University Of Miami	0	1	0	0	0	0	7	7
Institute of Human Genetics, Heidelberg University	0	31	0	7	0	0	0	7
Institute of Immunology and Genetics Kaiserslautern	0	44	0	5	1	0	1	7
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	11	0	6	0	0	1	7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	9	0	6	0	0	1	7
Mayo Clinic Laboratories, Mayo Clinic	0	20	0	1	1	0	5	7
Molecular Genetics, Royal Melbourne Hospital	0	45	0	5	0	0	2	7
Paris Brain Institute, Inserm - ICM	0	16	0	5	0	0	2	7
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	24	0	5	1	0	1	7
Robarts Research Institute, Western University	0	4	0	7	0	0	0	7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	31	0	6	0	0	1	7
Athena Diagnostics	0	34	0	5	0	0	1	6
Cavalleri Lab, Royal College of Surgeons in Ireland	0	5	0	4	0	0	2	6
Center for Medical Genetics Ghent, University of Ghent	0	14	0	5	0	0	1	6
Clinical Genetics Laboratory, Skane University Hospital Lund	0	40	0	4	0	0	2	6
Color Diagnostics, LLC DBA Color Health	0	36	0	4	0	0	2	6
Daryl Scott Lab, Baylor College of Medicine	0	52	0	4	1	0	1	6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	24	0	6	0	0	0	6
Elsea Laboratory, Baylor College of Medicine	0	11	0	0	0	0	6	6
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	49	0	5	0	0	1	6
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	13	0	3	0	0	3	6
MVZ Martinsried, Medicover Genetics	0	14	0	2	0	0	4	6
Molecular Genetics Lab, CHRU Brest	0	7	0	5	0	0	1	6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	37	0	6	0	0	0	6
Reproductive Health Research and Development, BGI Genomics	0	20	0	4	0	0	2	6
University of Washington Center for Mendelian Genomics, University of Washington	0	5	0	5	0	0	1	6
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	8	0	4	0	0	2	6
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	0	4	0	4	0	0	1	5
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	4	0	4	0	0	1	5
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	30	1	4	0	0	0	5
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	9	0	3	0	0	2	5
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	10	0	2	0	0	3	5
Clinical Genomics Laboratory, Washington University in St. Louis	0	35	0	5	0	0	0	5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	20	0	4	0	0	1	5
Department of Molecular Genetics, Istishari Arab Hospital	0	17	0	5	0	0	0	5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	32	0	5	0	0	0	5
Dunham Lab, University of Washington	0	7	0	3	0	0	2	5
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	37	0	3	0	0	2	5
Gharavi Laboratory, Columbia University	0	2	0	4	0	0	1	5
Hereditary Research Laboratory, Bethlehem University	0	3	0	3	0	0	2	5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	19	0	4	0	0	1	5
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	21	0	3	0	0	2	5
Intergen Genetics and Rare Diseases Diagnosis Center	0	14	0	3	1	0	1	5
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	15	0	5	0	0	0	5
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	5	0	5	0	0	0	5
deCODE genetics, Amgen	0	3	0	5	0	0	0	5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	8	0	1	0	0	3	4
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	3	0	3	0	0	1	4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	21	0	3	0	0	1	4
Center of Excellence for Medical Genomics, Chulalongkorn University	0	7	0	3	0	0	1	4
Center of Human Genetics, Hôpital Erasme	0	30	0	3	0	0	1	4
Centre for Population Genomics, CPG	0	20	0	3	0	0	1	4
Centre of Medical Genetics, University of Antwerp	0	4	0	4	0	0	0	4
Clinical Genetics Laboratory, Region Ostergotland	0	9	0	3	0	0	1	4
Clinical Genetics and Genomics, Karolinska University Hospital	0	9	0	2	0	0	2	4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	29	0	2	0	0	2	4
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine	0	1	0	3	0	0	1	4
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	0	13	0	4	0	0	0	4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	18	0	4	0	0	0	4
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	30	0	4	0	0	0	4
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	13	0	3	0	0	1	4
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	4	0	0	0	0	4	4
Laboratory of Human Genetics, Universidade de São Paulo	0	4	0	3	1	0	0	4
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	5	0	3	0	0	1	4
Leiden Open Variation Database	0	9	0	3	0	0	1	4
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center	0	1	0	0	0	4	0	4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	13	0	3	0	0	1	4
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University	0	4	0	4	0	0	0	4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	13	0	2	0	0	2	4
Pediatric Department, Xiangya Hospital, Central South University	0	7	0	2	0	0	2	4
Sharon lab, Hadassah-Hebrew University Medical Center	0	10	0	4	0	0	0	4
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	9	0	3	0	0	1	4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	9	0	3	0	0	0	3
CSER _CC_NCGL, University of Washington	0	2	0	2	0	0	1	3
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere	0	0	0	3	0	0	0	3
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	12	0	3	0	0	0	3
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	2	0	1	0	0	2	3
Clinical Biochemistry Laboratory, Health Services Laboratory	0	5	0	3	0	0	0	3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	0	2	0	0	1	3
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	0	1	0	2	0	0	1	3
Department of Medical Genetics, Oslo University Hospital	0	10	0	3	0	0	0	3
Department of Precision Medicine, Korea National Institute of Health	0	2	0	1	0	0	2	3
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital	0	11	0	3	0	0	0	3
Genesis Genomics	0	2	0	3	0	0	0	3
Genetic Diseases Diagnostic Center, Koc University Hospital	0	0	0	3	0	0	0	3
Genetics Department, Catlab	0	3	0	3	0	0	0	3
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	12	0	3	0	0	0	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	29	0	3	0	0	0	3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	31	0	1	0	0	2	3
Genomics And Bioinformatics Analysis Resource, Columbia University	0	13	0	3	0	0	0	3
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	11	0	3	0	0	0	3
Inherited Neuropathy Consortium	0	0	0	0	0	0	3	3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	22	0	3	0	0	0	3
Institute of Human Genetics, University of Goettingen	0	1	0	2	0	0	1	3
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	10	0	2	0	0	1	3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	1	0	1	0	0	2	3
Laboratory of Medical Genetics, University of Torino	0	6	0	2	0	0	1	3
Leeds Institute of Medical Research, University of Leeds	0	1	0	3	0	0	0	3
Medical Molecular Genetics Department, National Research Center	0	6	0	1	0	0	2	3
Molecular Diagnosis Center for Deafness	0	5	0	2	0	0	1	3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	11	0	2	0	0	1	3
NHS Central & South Genomic Laboratory Hub	0	30	0	3	0	0	0	3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	10	0	3	0	0	0	3
Otogenetics	0	10	0	3	0	0	0	3
Pars Genome Lab	0	4	0	2	0	0	1	3
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	8	0	3	0	0	0	3
Section for Clinical Neurogenetics, University of Tübingen	0	2	0	3	0	0	0	3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	2	0	2	0	0	1	3
BRCAlab, Lund University	0	4	0	2	0	0	0	2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	10	0	2	0	0	0	2
Biotechnology Department, Cairo University	0	0	0	1	0	0	1	2
Breda Genetics srl, Breda Genetics srl	0	13	0	0	1	0	1	2
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	4	0	1	0	0	1	2
Center for Bioinformatics, Peking University	0	8	0	2	0	0	0	2
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	2	0	0	0	2
Center for Human Genetics, University of Leuven	0	0	0	2	0	0	0	2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	15	0	2	0	0	0	2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	17	0	2	0	0	0	2
Centre for Translational Omics - GOSgene, University College London	0	0	0	2	0	0	0	2
Centre of Medical Genetics, University Hospital Muenster	0	20	0	2	0	0	0	2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	0	4	0	2	0	0	0	2
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	0	12	0	2	0	0	0	2
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen	0	2	0	2	0	0	0	2
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	0	12	0	1	0	0	1	2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	30	0	2	0	0	0	2
Department of Biochemistry, Faculty of Medicine, University of Khartoum	0	1	0	0	0	0	2	2
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	0	4	0	2	0	0	0	2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	7	0	2	0	0	0	2
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	0	0	0	1	0	0	1	2
Diagnostic Laboratory, Strasbourg University Hospital	0	0	0	2	0	0	0	2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	2	0	2	0	0	0	2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	0	1	0	1	0	1	0	2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	0	2	0	0	0	2
Duke University Health System Sequencing Clinic, Duke University Health System	0	20	0	2	0	0	0	2
Eurofins-Biomnis	0	11	0	1	0	0	1	2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	10	0	2	0	0	0	2
Genome Medicine, Institute for Basic Research in Developmental Disabilities	0	1	0	2	0	0	0	2
Genomics, Genetics and Epigenetics Laboratory, Medical College of Wisconsin	0	1	0	2	0	0	0	2
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université	0	6	0	1	0	0	1	2
Houlden Lab, UCL Institute of Neurology	0	0	0	1	0	0	1	2
Human Genetics Bochum, Ruhr University Bochum	0	4	0	2	0	0	0	2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences	0	1	0	1	0	0	1	2
Iberoamerican FH Network	0	2	0	2	0	0	0	2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA	0	19	0	2	0	0	0	2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	14	0	2	0	0	0	2
Institute of Human Genetics, University Hospital of Duesseldorf	0	14	0	2	0	0	0	2
Institute of Human Genetics, University of Ulm	0	5	0	1	0	0	1	2
Institute of Tissue Medicine and Pathology, University of Bern	0	0	0	2	0	0	0	2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	8	0	1	0	1	0	2
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	0	0	2	0	0	0	2
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine	0	0	0	2	0	0	0	2
Lildballe Lab, Aarhus University Hospital	0	13	0	2	0	0	0	2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	0	7	0	2	0	0	0	2
Molecular Medicine, University of Pavia	0	1	0	2	0	0	0	2
Molecular Pathology, Peter Maccallum Cancer Centre	0	16	0	1	0	0	1	2
Neurogenetics Laboratory - MEYER, AOU Meyer	0	1	0	2	0	0	0	2
Neurology Department, Shenzhen Children's Hospital	0	3	0	2	0	0	0	2
Newborn Screening Ontario, Children's Hospital of Eastern Ontario (CHEO)	0	9	0	2	0	0	0	2
O&I group, Department of Genetics, University Medical Center of Groningen	0	2	0	1	0	0	1	2
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	2	0	2	0	0	0	2
Quest Diagnostics Nichols Institute San Juan Capistrano	0	3	0	1	0	0	1	2
Reproductive Endocrine Unit, Massachusetts General Hospital	0	2	0	2	0	0	0	2
RettBASE	0	21	0	2	0	0	0	2
Shaikh Laboratory, University of Colorado	0	0	0	2	0	0	0	2
Sharing Clinical Reports Project (SCRP)	0	8	0	2	0	0	0	2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	14	0	1	1	0	0	2
The Purple Gene Clinic, Mumbai	0	0	0	2	0	0	0	2
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism	0	1	0	0	0	0	2	2
UAB Medical Genomics Laboratory, UAB Medicine	0	6	0	2	0	0	0	2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	3	0	2	0	0	0	2
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)	0	3	0	2	0	0	0	2
University of Washington Department of Laboratory Medicine, University of Washington	0	4	0	0	0	0	2	2
Yale Center for Mendelian Genomics, Yale University	0	7	0	1	0	0	1	2
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada)	0	1	0	1	0	0	0	1
3billion	13847	0	0	0	0	0	1	1
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland	0	1	0	1	0	0	0	1
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	0	4	0	1	0	0	0	1
AiLife Diagnostics, AiLife Diagnostics	0	1	0	0	0	0	1	1
Arcensus	0	6	0	1	0	0	0	1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	1	0	0	0	0	1	1
Biochemistry Department, Nishtar Medical University	0	2	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	2	0	1	0	0	0	1
Biological Sciences, International Islamic University, Islamabad	0	0	0	1	0	0	0	1
Breast Cancer Information Core (BIC) (BRCA1)	0	5	0	0	0	0	1	1
Breast Cancer Information Core (BIC) (BRCA2)	0	3	0	0	0	0	1	1
Bristol Genetics Laboratory, North Bristol NHS Trust	0	0	0	1	0	0	0	1
CFTR-France	0	15	0	0	1	0	0	1
CMT Laboratory, Bogazici University	0	4	0	1	0	0	0	1
Cardiology unit, Meyer University Hospital	0	0	0	0	0	0	1	1
Cardiovascular Biomarker Research Laboratory, Mayo Clinic	0	0	0	1	0	0	0	1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	6	0	1	0	0	0	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	3	0	1	0	0	0	1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital	0	0	0	1	0	0	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	4	0	0	0	0	1	1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University	0	0	0	1	0	0	0	1
Centre de recherche St Antoine, Sorbonne Université, INSERM, Sorbonne University	0	0	0	0	0	0	1	1
Centre for Human Genetics	0	6	0	1	0	0	0	1
Centre for Human Genetics, University of Kinshasa	0	2	0	1	0	0	0	1
Centre for Medical Genetics, Mumbai	0	1	0	0	0	0	1	1
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), Unidad de Investigacion Traslacional (UIT), Hospital de Niños Dr. Ricardo Gutiérrez	0	0	0	0	0	0	1	1
ClinGen Antibody Deficiencies Variant Curation Expert Panel, ClinGen	0	1	0	1	0	0	0	1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	0	0	0	0	0	0	1	1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
ClinGen TP53 Variant Curation Expert Panel, ClinGen	0	2	0	0	0	0	1	1
ClinPGx	0	0	0	0	0	1	0	1
Clingen Thrombosis Variant Curation Expert Panel, ClinGen	0	1	0	1	0	0	0	1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	0	4	0	1	0	0	0	1
Clinical Genetics, Academic Medical Center	0	9	0	1	0	0	0	1
Clinical Genomics, G42 Labs	0	2	0	1	0	0	0	1
Coban-Akdemir Lab, University of Texas Health Science Center	0	0	0	0	0	0	1	1
Collagen Diagnostic Laboratory, University of Washington	0	4	0	1	0	0	0	1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital	0	0	0	1	0	0	0	1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	8	0	1	0	0	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	0	16	0	1	0	0	0	1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics	0	2	0	1	0	0	0	1
Cytogenetique et Genetique Moleculaire, CHU Besancon	0	0	0	0	0	0	1	1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology	0	0	0	1	0	0	0	1
DBGen Ocular Genomics	0	7	0	1	0	0	0	1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics	0	0	0	0	0	0	1	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	0	2	0	1	0	0	0	1
Department of Biotechnology and Microbiology, Karnatak University Dharwad	0	0	0	0	0	0	1	1
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz	0	3	0	1	0	0	0	1
Department of Internal Medicine, University of Texas Health Science Center at Houston	0	0	0	1	0	0	0	1
Department of Laboratory Medicine, Jeonbuk National University Hospital	0	0	0	0	0	0	1	1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development	0	3	0	1	0	0	0	1
Department of Medical Genetics, College of Basic Medicine, Army Medical University	0	0	0	1	0	0	0	1
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine	0	0	0	1	0	0	0	1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University	0	0	0	1	0	0	0	1
Department of Medical and Surgical Sciences, University of Bologna	0	0	0	1	0	0	0	1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	4	0	1	0	0	0	1
Department of Nephrology, Rheumatology and Immunology, Shanghai Children's Hospital	0	0	0	0	0	0	1	1
Department of Neurology, Children’s Hospital of Chongqing Medical University	0	0	0	1	0	0	0	1
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology	0	0	0	1	0	0	0	1
Department of Ophthalmology, Shanghai Jiao Tong University School of Medicine, Shanghai General Hospital	0	0	0	0	0	0	1	1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	2	0	1	0	0	0	1
Department of Pathophysiology and Transplantation, University of Milan	0	0	0	1	0	0	0	1
Department of Pediatric Genetics, Istanbul University - Cerrahpasa	0	3	0	1	0	0	0	1
Department of Pediatric Nephrology, Wuhan Children's Hospital	0	0	0	0	0	0	1	1
Department of Pediatrics, Gifu University	0	0	0	1	0	0	0	1
Department of Pediatrics, ShengJing Hospital of China Medical University	0	0	0	1	0	0	0	1
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology	0	0	0	1	0	0	0	1
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University	0	0	0	0	0	0	1	1
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine	0	0	0	0	0	0	1	1
Dept Of Ophthalmology, Nagoya University	0	1	0	1	0	0	0	1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	0	2	0	1	0	0	0	1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	0	4	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	2	0	0	0	0	1	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	5	0	1	0	0	0	1
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine	0	0	0	1	0	0	0	1
Division of Medical Genetics, University of Washington	0	1	0	1	0	0	0	1
Dobyns Lab, Seattle Children's Research Institute	0	2	0	0	0	0	1	1
Dr.Nikuei Genetic Center	0	4	0	0	0	0	1	1
Département de Neurologie, Hospices Civils de Lyon	0	0	0	1	0	0	0	1
EVOGEN	0	0	0	1	0	0	0	1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	0	7	0	1	0	0	0	1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	7	0	1	0	0	0	1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre	0	1	0	1	0	0	0	1
FirmaLab, FirmaLab	0	0	0	0	0	0	1	1
GENinCode PLC	0	2	0	1	0	0	0	1
Geisinger Clinic, Geisinger Health System	0	6	0	1	0	0	0	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	0	0	1	0	0	0	1
Genetic Foundation of Khorasan Razavi (GFKR)	0	5	0	1	0	0	0	1
Genetics Department, University Hospital of Toulouse	0	1	0	1	0	0	0	1
Genetics Laboratory, University of Sistan and Baluchestan	0	0	0	0	0	0	1	1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences	0	9	0	1	0	0	0	1
GenomeConnect - Simons Searchlight	0	13	0	1	0	0	0	1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics	0	0	0	1	0	0	0	1
Genomics Facility, Ludwig-Maximilians-Universität München	0	5	0	1	0	0	0	1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)	0	2	0	1	0	0	0	1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University	0	1	0	0	0	0	1	1
Helix	0	1	0	1	0	0	0	1
IIFP, CONICET-UNLP	0	0	0	0	0	0	1	1
Inheritance Genetic Center	0	0	0	1	0	0	0	1
Inserm U 954, Faculté de Médecine de Nancy	0	1	0	0	0	0	1	1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles	0	1	0	1	0	0	0	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	4	0	0	0	0	1	1
Institute for Genomic Medicine, Nationwide Children's Hospital	0	0	0	0	0	0	1	1
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	1	0	0	0	1
Institute of Bioinformatics	0	0	0	1	0	0	0	1
Institute of Genomics, University of Tartu	0	1	0	1	0	0	0	1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf	0	0	0	1	0	0	0	1
Institute of Medical Genetics, University of Zurich	0	5	0	1	0	0	0	1
Institute of Metabolism and Integrative Biology, Fudan University	0	0	0	0	0	0	1	1
Institute of Rare Diseases, West China Hospital, Sichuan University	0	1	0	0	0	0	1	1
Istanbul Faculty of Medicine, Istanbul University	0	1	0	0	0	0	1	1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico	0	1	0	1	0	0	0	1
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University	0	0	0	1	0	0	0	1
KardioGenetik, Herz- und Diabeteszentrum NRW	0	2	0	1	0	0	0	1
Keimyung University Dongsan Hospital, Keimyung University School of Medicine	0	1	0	1	0	0	0	1
King Fahd Medical Research Center, King Abdulaziz University	0	0	0	1	0	0	0	1
King Laboratory, University of Washington	0	11	0	1	0	0	0	1
Laan Lab, Human Genetics Research Group, University of Tartu	0	1	0	1	0	0	0	1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	0	0	1	0	0	0	1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez	0	3	0	1	0	0	0	1
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital	0	0	0	1	0	0	0	1
MVZ Praenatalmedizin und Genetik Nuernberg	0	1	0	1	0	0	0	1
Medical Genetics Laboratory, Tarbiat Modares University	0	1	0	1	0	0	0	1
Medical Genetics, Medical University Pleven	0	1	0	1	0	0	0	1
Medical Genetics, University of Parma	0	21	0	1	0	0	0	1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital	0	3	0	1	0	0	0	1
Michigan Medical Genetics Laboratories, University of Michigan	0	3	0	1	0	0	0	1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University	0	2	0	0	0	0	1	1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	6	0	1	0	0	0	1
Molecular Diagnostics Laboratory, University of Rochester Medical Center	0	0	0	1	0	0	0	1
Molecular Genetics Laboratory, Motol Hospital	0	1	0	0	0	0	1	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	1	0	1	0	0	0	1
Molecular Lab, Department of Haematology, Christian Medical College	0	0	0	1	0	0	0	1
Mustafa Tekin Lab, University Of Miami, Miller School Of Medicine	0	0	0	1	0	0	0	1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	2	0	0	0	0	1	1
NYU Undiagnosed Diseases Program, NYU School of Medicine	0	0	0	1	0	0	0	1
Narges Medical Genetic and Prenatal Diagnosis Lab	0	0	0	1	0	0	0	1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	0	5	0	1	0	0	0	1
Nephrology Department, Prince Sultan Military Medical City	0	0	0	1	0	0	0	1
Nephrology, University of Crete, University General Hospital of Heraklion	0	1	0	1	0	0	0	1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp	0	0	0	1	0	0	0	1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University	0	1	0	0	0	1	0	1
Neurology Department, Peking University First Hospital	0	3	0	1	0	0	0	1
Next Generation Genetic Polyclinic	0	5	0	1	0	0	0	1
Northcott Neuroscience Laboratory, ANZAC Research Institute	0	1	0	1	0	0	0	1
Oasi Research Institute-IRCCS	0	0	0	1	0	0	0	1
Ophthalmology, Kobe City Eye Hospital	0	5	0	1	0	0	0	1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	0	8	0	1	0	0	0	1
PXE International	0	2	0	1	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	0	12	0	1	0	0	0	1
Pediatric Metabolic Diseases, Hacettepe University	0	2	0	1	0	0	0	1
Pediatrics, West China Second University Hospital, Sichuan University	0	0	0	0	0	0	1	1
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center	0	0	0	1	0	0	0	1
Progenie Molecular	0	0	0	1	0	0	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	15	0	1	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	1	0	0	0	0	1	1
Rare Diseases Genetics and Genomics, Islamia College Peshawar	0	3	0	1	0	0	0	1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa	0	6	0	1	0	0	0	1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara	0	1	0	0	0	0	1	1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	0	1	0	0	0	0	1	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	9	0	1	0	0	0	1
Service de Génétique Moléculaire, Hôpital Robert Debré	0	10	0	1	0	0	0	1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	1	0	1	0	0	0	1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	2	0	1	0	0	0	1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria	0	2	0	1	0	0	0	1
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio	0	0	0	1	0	0	0	1
Sfax Medical Genetics Laboratory, Laboratoire Ksentini	0	0	0	1	0	0	0	1
St. Anna Children's Cancer Research Institute (CCRI)	0	1	0	1	0	0	0	1
The Genetics Institute, Rambam Health Care Campus	0	0	0	0	0	0	1	1
Translational Genomics Laboratory, University of Maryland School of Medicine	0	0	0	1	0	0	0	1
UW Hindbrain Malformation Research Program, University of Washington	0	7	0	1	0	0	0	1
Uitto Lab, Thomas Jefferson University	0	0	0	1	0	0	0	1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela	0	1	0	0	0	0	1	1
Wendy Chung Laboratory, Boston Children's Hospital	0	3	0	1	0	0	0	1
Wessex Regional Genetics Laboratory, Salisbury District Hospital	0	7	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	rs1801133	0.27446
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)	rs429358	0.16059
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07384
NM_005105.5(RBM8A):c.*6C>G	rs12079762	0.04454
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03738
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_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	rs61747728	0.02796
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02788
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	rs3743930	0.02112
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_000500.9(CYP21A2):c.*13G>A	rs6447	0.01770
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)	rs9378252	0.00964
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_000492.4(CFTR):c.1210-11T>G	rs73715573	0.00886
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	rs17107315	0.00797
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	rs74653330	0.00674
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	rs62642564	0.00654
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)	rs202242769	0.00567
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)	rs6476	0.00523
NM_005105.5(RBM8A):c.67+32G>C	rs201779890	0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000110.4(DPYD):c.1905+1G>A	rs3918290	0.00474
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)	rs35026927	0.00426
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
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_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
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_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)	rs2904551	0.00282
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00279
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000065.5(C6):c.2381+2T>C	rs76202909	0.00242
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)	rs138480801	0.00230
NM_001081.4(CUBN):c.6125-2A>G	rs75386064	0.00226
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)	rs565866662	0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00184
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	rs137852769	0.00182
NM_172250.3(MMAA):c.*97G>C	rs148424051	0.00170
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00164
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_183065.4(TMEM107):c.*759C>T	rs201787275	0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)	rs121917739	0.00158
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
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_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	rs104894299	0.00147
NM_013391.3(DMGDH):c.326A>G (p.His109Arg)	rs121908331	0.00147
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	rs61754365	0.00143
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
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_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NR_003051.4(RMRP):n.72A>G	rs199476103	0.00123
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)	rs80265967	0.00121
NM_006715.4(MAN2C1):c.601-2A>G	rs147928844	0.00120
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)	rs121964926	0.00118
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	rs6475	0.00117
NM_002470.4(MYH3):c.-9+1G>A	rs557849165	0.00117
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	rs201162411	0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)	rs142609245	0.00116
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00115
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	rs61732167	0.00111
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)	rs137853026	0.00105
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00105
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	rs145451123	0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	rs116471343	0.00096
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_000277.3(PAH):c.158G>A (p.Arg53His)	rs118092776	0.00091
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)	rs138016359	0.00085
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	rs35516286	0.00083
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)	rs144139747	0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175	0.00077
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	rs116928232	0.00075
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	rs34946978	0.00071
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00071
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	rs80338933	0.00067
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)	rs151201155	0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	rs143486492	0.00059
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00059
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_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	rs9378251	0.00055
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	rs145360423	0.00054
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	rs201230446	0.00054
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	rs116171274	0.00051
NM_138691.3(TMC1):c.1763+3A>G	rs370898981	0.00051
NM_001372.4(DNAH9):c.3593G>C (p.Trp1198Ser)	rs141958775	0.00049
NM_000428.3(LTBP2):c.1686+3G>A	rs190814774	0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	rs182018947	0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)	rs776989258	0.00047
NM_012144.4(DNAI1):c.389-1G>C	rs200488444	0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)	rs376808313	0.00045
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)	rs553950608	0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)	rs139644798	0.00044
NM_006390.4(IPO8):c.339G>A (p.Met113Ile)	rs149978470	0.00044
NM_006715.4(MAN2C1):c.607G>A (p.Gly203Arg)	rs190692217	0.00044
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys)	rs147358856	0.00043
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser)	rs145351589	0.00042
NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys)	rs114229197	0.00042
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)	rs150429680	0.00041
NM_144508.5(KNL1):c.6416-13T>G	rs370035611	0.00041
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)	rs200005406	0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	rs140291094	0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	rs121909398	0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	rs200856561	0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp)	rs146944225	0.00038
NM_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_002303.6(LEPR):c.1835G>A (p.Arg612His)	rs144159890	0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	rs28939378	0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	rs34637584	0.00036
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	rs183487020	0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val)	rs201801144	0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	rs201477273	0.00033
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	rs148812376	0.00032
NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu)	rs140968382	0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	rs28937873	0.00032
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met)	rs147552838	0.00032
NM_018993.4(RIN2):c.41G>A (p.Arg14Gln)	rs367797077	0.00032
NM_003104.6(SORD):c.458C>A (p.Ala153Asp)	rs145813597	0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)	rs72553875	0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	rs201337954	0.00031
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	rs138577661	0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00030
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)	rs201322234	0.00030
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	rs112735431	0.00030
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)	rs146195955	0.00030
NM_006892.4(DNMT3B):c.1219G>A (p.Gly407Ser)	rs148646143	0.00030
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)	rs145463632	0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	rs200530055	0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_207581.4(DUOXA2):c.205+2T>C	rs201506037	0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)	rs80356540	0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00027
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	rs80338709	0.00027
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln)	rs142478972	0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met)	rs121913039	0.00027
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)	rs149684063	0.00027
NM_001364905.1(LRBA):c.3499A>G (p.Thr1167Ala)	rs146297781	0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	rs139632595	0.00026
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)	rs200393300	0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del	rs751527253	0.00026
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met)	rs139329616	0.00025
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)	rs191759494	0.00025
NM_005559.4(LAMA1):c.4204C>T (p.Pro1402Ser)	rs202133880	0.00025
NM_020999.4(NEUROG3):c.130G>A (p.Gly44Arg)	rs143182569	0.00025
NR_023343.3(RNU4ATAC):n.8C>T	rs370715569	0.00025
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	rs148460146	0.00024
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)	rs142746163	0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	rs144812594	0.00023
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00023
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)	rs376670171	0.00023
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)	rs757653154	0.00022
NM_020987.5(ANK3):c.6916A>G (p.Lys2306Glu)	rs144270555	0.00022
NM_153603.4(COG7):c.435+2T>C	rs201446992	0.00022
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)	rs199422117	0.00021
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)	rs1420939606	0.00021
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)	rs121908253	0.00021
NM_199242.3(UNC13D):c.118-308C>T	rs959968589	0.00021
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	0.00020
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)	rs147226818	0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000487.6(ARSA):c.605G>A (p.Arg202His)	rs201794808	0.00019
NM_000553.6(WRN):c.835C>T (p.Arg279Trp)	rs199923241	0.00019
NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu)	rs766153965	0.00019
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	rs376103091	0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)	rs200620279	0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	rs201312386	0.00019
NM_144508.5(KNL1):c.5974G>T (p.Ala1992Ser)	rs200052077	0.00019
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp)	rs142143178	0.00019
NM_199242.3(UNC13D):c.1076G>A (p.Arg359His)	rs146611729	0.00019
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	rs55989760	0.00018
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	rs141437721	0.00018
NM_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_001367561.1(DOCK7):c.1292G>C (p.Gly431Ala)	rs201785444	0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)	rs199476083	0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	rs61751392	0.00017
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter)	rs201706487	0.00017
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	rs371753672	0.00017
NM_198576.4(AGRN):c.4061C>A (p.Thr1354Asn)	rs766470739	0.00017
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	rs9332964	0.00016
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	rs34993780	0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_001002294.3(FMO3):c.172G>A (p.Val58Ile)	rs144935285	0.00016
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser)	rs190968346	0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	rs200277476	0.00016
NM_020458.4(TTC7A):c.1189G>A (p.Val397Ile)	rs146284515	0.00016
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu)	rs201827208	0.00016
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	rs371412500	0.00015
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00015
NM_000433.4(NCF2):c.*97A>C	rs367946786	0.00015
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)	rs139444207	0.00015
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)	rs372754256	0.00015
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	rs111033294	0.00015
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)	rs777989874	0.00015
NM_017866.6(TMEM70):c.434A>G (p.Tyr145Cys)	rs111248269	0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)	rs104894077	0.00015
NM_198576.4(AGRN):c.3958G>A (p.Gly1320Arg)	rs780180385	0.00015
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)	rs28941472	0.00014
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His)	rs201223945	0.00014
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	rs398124598	0.00014
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	rs201725369	0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	rs375315619	0.00013
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)	rs368695808	0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001136193.2(FASTKD2):c.1193A>T (p.Asp398Val)	rs140778319	0.00013
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg)	rs775399423	0.00013
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)	rs147542645	0.00013
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)	rs118031911	0.00013
NM_021922.3(FANCE):c.-100C>T	rs374493565	0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)	rs778363138	0.00013
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)	rs201249971	0.00013
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	rs193186112	0.00012
NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr)	rs143530690	0.00012
NM_001365088.1(SLC12A6):c.*94G>C	rs117540484	0.00012
NM_006345.4(SLC30A9):c.40del (p.Ser14fs)	rs767078182	0.00012
NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln)	rs560822587	0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	rs372918203	0.00012
NM_018714.3(COG1):c.265C>T (p.Arg89Cys)	rs766457949	0.00012
NM_018714.3(COG1):c.542C>T (p.Ala181Val)	rs534708439	0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys)	rs148562777	0.00012
NM_176787.5(PIGN):c.1372G>A (p.Ala458Thr)	rs370794466	0.00012
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)	rs116040763	0.00011
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)	rs552436294	0.00011
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)	rs188270548	0.00011
NM_004407.4(DMP1):c.424G>T (p.Asp142Tyr)	rs201761802	0.00011
NM_005186.4(CAPN1):c.1605+5G>A	rs375817528	0.00011
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe)	rs376562033	0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	rs79783591	0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	rs751459058	0.00011
NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg)	rs757317844	0.00011
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp)	rs112946633	0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	rs140511594	0.00011
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser)	rs369010851	0.00011
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His)	rs200386096	0.00011
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp)	rs150566697	0.00011
NM_206538.4(EMC10):c.343C>T (p.Arg115Ter)	rs151303712	0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	rs143344549	0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp)	rs56199535	0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)	rs201118034	0.00010
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)	rs567795279	0.00010
NM_002435.3(MPI):c.748G>A (p.Gly250Ser)	rs748090636	0.00010
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)	rs201253919	0.00010
NM_004184.4(WARS1):c.1255G>A (p.Asp419Asn)	rs550196955	0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	rs546989392	0.00010
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys)	rs367922991	0.00010
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)	rs121918420	0.00010
NM_025074.7(FRAS1):c.2962G>A (p.Val988Met)	rs368228939	0.00010
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	rs201689565	0.00010
NM_177531.6(PKHD1L1):c.7437C>A (p.His2479Gln)	rs529097022	0.00010
NM_198576.4(AGRN):c.183G>C (p.Gln61His)	rs951245406	0.00010
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	rs200960659	0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)	rs200939753	0.00009
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)	rs202115696	0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)	rs9332967	0.00009
NM_000360.4(TH):c.1358G>A (p.Arg453His)	rs759599321	0.00009
NM_000477.7(ALB):c.725G>A (p.Arg242His)	rs75002628	0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)	rs201573863	0.00009
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His)	rs568165874	0.00009
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)	rs370778353	0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	rs200440467	0.00009
NM_001297.5(CNGB1):c.2794+1G>A	rs770011113	0.00009
NM_002905.5(RDH5):c.500G>A (p.Arg167His)	rs199877211	0.00009
NM_002941.4(ROBO1):c.1073G>A (p.Arg358His)	rs377297596	0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	rs60376624	0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)	rs149712244	0.00009
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)	rs147455037	0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)	rs121908686	0.00009
NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser)	rs121912645	0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)	rs121434410	0.00009
NM_005422.4(TECTA):c.248C>T (p.Thr83Met)	rs145898158	0.00009
NM_006118.4(HAX1):c.*47A>G	rs183456651	0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)	rs758719669	0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	rs536758576	0.00009
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly)	rs200078740	0.00009
NM_032444.4(SLX4):c.*98A>G	rs551538592	0.00009
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr)	rs142097048	0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	rs201105958	0.00009
NM_145886.4(PIDD1):c.2042-2A>G	rs199752248	0.00009
NR_104387.1(TAF1):n.5894C>T	rs397509359	0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)	rs28940872	0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)	rs121908003	0.00008
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	rs577915581	0.00008
NM_000157.4(GBA1):c.115+1G>A	rs104886460	0.00008
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	rs1429137932	0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	rs61750200	0.00008
NM_000782.5(CYP24A1):c.475C>T (p.Arg159Trp)	rs202070065	0.00008
NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)	rs549769200	0.00008
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp)	rs756423026	0.00008
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)	rs373118250	0.00008
NM_004837.4(GGPS1):c.782G>A (p.Arg261His)	rs1262402879	0.00008
NM_016123.4(IRAK4):c.547C>T (p.Arg183Ter)	rs114951157	0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)	rs376469502	0.00008
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00008
NM_025243.4(SLC19A3):c.980-14A>G	rs200542114	0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	rs368049814	0.00008
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)	rs202134230	0.00007
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)	rs121909132	0.00007
NM_000130.5(F5):c.1001G>C (p.Arg334Thr)	rs118203906	0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)	rs150938052	0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00007
NM_000293.3(PHKB):c.1127-2A>G	rs535749057	0.00007
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)	rs62642575	0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00007
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)	rs768849283	0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	rs749909863	0.00007
NM_001378778.1(MPDZ):c.5765A>C (p.Glu1922Ala)	rs372346014	0.00007
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val)	rs553988238	0.00007
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)	rs200699819	0.00007
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)	rs754203248	0.00007
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro)	rs369957092	0.00007
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp)	rs746468689	0.00007
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)	rs142375551	0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)	rs771157170	0.00007
NM_019023.5(PRMT7):c.499G>A (p.Val167Met)	rs138763605	0.00007
NM_020376.4(PNPLA2):c.326A>G (p.His109Arg)	rs200683247	0.00007
NM_020806.5(GPHN):c.86A>G (p.Asn29Ser)	rs144247888	0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)	rs116802390	0.00007
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)	rs564427867	0.00007
NM_182894.3(VSX2):c.862C>T (p.Arg288Trp)	rs76055170	0.00007
NC_000021.9:g.45405398C>T	rs754075778	0.00006
NM_000017.4(ACADS):c.413C>T (p.Ala138Val)	rs17848085	0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)	rs199907548	0.00006
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)	rs201728948	0.00006
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)	rs753909969	0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	rs80338898	0.00006
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr)	rs751975987	0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)	rs371159065	0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)	rs764006338	0.00006
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)	rs61750202	0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)	rs41464951	0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)	rs121964959	0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640	0.00006
NM_001083961.2(WDR62):c.2972A>T (p.Asp991Val)	rs749528768	0.00006
NM_001127671.2(LIFR):c.2284T>C (p.Tyr762His)	rs200270315	0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr)	rs147201727	0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)	rs756205397	0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)	rs775162839	0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	rs121908680	0.00006
NM_003849.4(SUCLG1):c.116G>A (p.Arg39Gln)	rs372512876	0.00006
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp)	rs121918537	0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	rs375168720	0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)	rs121912619	0.00006
NM_018669.6(WDR4):c.266G>A (p.Arg89His)	rs751142345	0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val)	rs121964931	0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)	rs542429051	0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	rs201408725	0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)	rs770050262	0.00006
NM_145246.5(FRA10AC1):c.328C>T (p.Arg110Ter)	rs555127846	0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His)	rs397514500	0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	rs121912599	0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00005
NM_000053.4(ATP7B):c.1285+5G>T	rs370579582	0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)	rs137852618	0.00005
NM_000256.3(MYBPC3):c.1224-80G>A	rs1025692267	0.00005
NM_000258.3(MYL3):c.466G>A (p.Val156Met)	rs199474707	0.00005
NM_000277.3(PAH):c.350C>T (p.Thr117Ile)	rs281865439	0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)	rs765828196	0.00005
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	rs568792949	0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314	0.00005
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)	rs146591309	0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256	0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)	rs121909547	0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys)	rs767778853	0.00005
NM_002016.2(FLG):c.7487del (p.Thr2496fs)	rs774362740	0.00005
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)	rs202228620	0.00005
NM_002076.4(GNS):c.791C>T (p.Thr264Met)	rs575544204	0.00005
NM_003922.4(HERC1):c.10925T>C (p.Met3642Thr)	rs568826186	0.00005
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)	rs202095223	0.00005
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)	rs398124152	0.00005
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	rs121964954	0.00005
NM_015466.4(PTPN23):c.2747A>G (p.Gln916Arg)	rs770692989	0.00005
NM_018116.4(MSTO1):c.22G>A (p.Val8Met)	rs762798018	0.00005
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	rs145034527	0.00005
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)	rs780987516	0.00005
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)	rs752143061	0.00005
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn)	rs200841458	0.00005
NM_025074.7(FRAS1):c.4843+2T>C	rs370018000	0.00005
NM_025103.4(IFT74):c.1685-1G>T	rs200699377	0.00005
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)	rs370757859	0.00005
NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr)	rs766962416	0.00005
NM_206926.2(SELENON):c.1A>G (p.Met1Val)	rs121908184	0.00005
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)	rs759158371	0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)	rs776814144	0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	rs587781347	0.00004
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)	rs760713333	0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	rs569681869	0.00004
NM_000111.3(SLC26A3):c.2063-1G>T	rs386833471	0.00004
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr)	rs587782215	0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His)	rs200378205	0.00004
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)	rs104894833	0.00004
NM_000175.5(GPI):c.671C>T (p.Thr224Met)	rs61754634	0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00004
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)	rs397516211	0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	rs200457227	0.00004
NM_000282.4(PCCA):c.819+9A>G	rs372739944	0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)	rs374547385	0.00004
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)	rs121912748	0.00004
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln)	rs61753021	0.00004
NM_000350.3(ABCA4):c.859-9T>C	rs529598960	0.00004
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)	rs201382232	0.00004
NM_000440.3(PDE6A):c.305G>A (p.Arg102His)	rs750539462	0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)	rs576969969	0.00004
NM_001025248.2(DUT):c.425A>G (p.Tyr142Cys)	rs373184762	0.00004
NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys)	rs1321283106	0.00004
NM_001048166.1(STIL):c.3061C>T (p.His1021Tyr)	rs199558457	0.00004
NM_001048166.1(STIL):c.3839G>A (p.Arg1280His)	rs372680224	0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)	rs768219929	0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)	rs768527231	0.00004
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)	rs527236068	0.00004
NM_001164508.2(NEB):c.21417+3A>G	rs148950085	0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)	rs63750428	0.00004
NM_001291303.3(FAT4):c.4228G>A (p.Val1410Met)	rs781736766	0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)	rs149399432	0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)	rs367841692	0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs)	rs749012133	0.00004
NM_001395413.1(POR):c.1361G>A (p.Arg454His)	rs28931608	0.00004
NM_001876.4(CPT1A):c.1576-11T>G	rs778920950	0.00004
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)	rs749083759	0.00004
NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter)	rs727502791	0.00004
NM_003982.4(SLC7A7):c.625+1G>A	rs386833822	0.00004
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys)	rs752712664	0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)	rs146262009	0.00004
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)	rs765305996	0.00004
NM_005912.3(MC4R):c.496G>A (p.Val166Ile)	rs942758928	0.00004
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter)	rs760377093	0.00004
NM_006302.3(MOGS):c.721C>T (p.Arg241Cys)	rs745844848	0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)	rs752941297	0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)	rs780761368	0.00004
NM_015426.5(POC1A):c.649C>T (p.Arg217Trp)	rs372247136	0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp)	rs527236031	0.00004
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)	rs770654508	0.00004
NM_016341.4(PLCE1):c.1180C>T (p.Arg394Cys)	rs761213168	0.00004
NM_016341.4(PLCE1):c.1496G>A (p.Arg499His)	rs757336023	0.00004
NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro)	rs3748694	0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)	rs622288	0.00004
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)	rs567155861	0.00004
NM_018418.5(SPATA7):c.386C>T (p.Pro129Leu)	rs374126653	0.00004
NM_019109.5(ALG1):c.560G>A (p.Arg187His)	rs377600706	0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A	rs397509418	0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)	rs119471023	0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)	rs374596700	0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)	rs398122978	0.00004
NM_025114.4(CEP290):c.4438-3del	rs747323414	0.00004
NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys)	rs761792490	0.00004
NM_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser)	rs770794109	0.00004
NM_145691.4(ATPAF2):c.133+1G>T	rs147941728	0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)	rs200320892	0.00004
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr)	rs753026831	0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)	rs145873635	0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_206926.2(SELENON):c.1472T>G (p.Met491Arg)	rs761631813	0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	rs111033280	0.00004
NM_207361.6(FREM2):c.2129G>A (p.Arg710His)	rs372166899	0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	rs199524907	0.00003
NM_000041.4(APOE):c.683G>A (p.Trp228Ter)	rs121918396	0.00003
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)	rs104893940	0.00003
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)	rs766328537	0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	rs750019452	0.00003
NM_000070.3(CAPN3):c.802-9G>A	rs761211705	0.00003
NM_000083.3(CLCN1):c.1167-10T>C	rs543120965	0.00003
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)	rs533297350	0.00003
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	rs770610356	0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)	rs759292700	0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)	rs144016984	0.00003
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)	rs770485731	0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His)	rs137852892	0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	rs567564095	0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	rs764608975	0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	rs1057516344	0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	rs104894639	0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	rs397515907	0.00003
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	rs148808089	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)	rs45611033	0.00003
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His)	rs397516178	0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His)	rs397516260	0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	rs772019064	0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His)	rs192592111	0.00003
NM_000335.5(SCN5A):c.393-1C>T	rs759235726	0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	rs61750142	0.00003
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)	rs61753032	0.00003
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp)	rs777902199	0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)	rs201660407	0.00003
NM_000452.3(SLC10A2):c.318C>A (p.Cys106Ter)	rs370438426	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000518.5(HBB):c.316-106C>G	rs34690599	0.00003
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)	rs144614838	0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	rs730882109	0.00003
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)	rs121918670	0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)	rs200137189	0.00003
NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter)	rs1050823116	0.00003
NM_001017979.3(RAB28):c.68C>T (p.Ser23Phe)	rs769199865	0.00003
NM_001018115.3(FANCD2):c.2605+1G>A	rs142365855	0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)	rs2808001	0.00003
NM_001080510.5(METTL23):c.470_471del (p.Leu157fs)	rs760933323	0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)	rs374417889	0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)	rs201720797	0.00003
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr)	rs137853212	0.00003
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His)	rs759532318	0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)	rs779160677	0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	rs201255508	0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)	rs146158333	0.00003
NM_001142800.2(EYS):c.7228+1G>A	rs758899480	0.00003
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)	rs145184183	0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)	rs1015857165	0.00003
NM_001170535.3(ATAD3A):c.283-45G>A	rs780466539	0.00003
NM_001267727.2(ARSG):c.983-2_983-1del	rs761100309	0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	rs398123018	0.00003
NM_001297.5(CNGB1):c.2893-7G>A	rs749199721	0.00003
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)	rs104893619	0.00003
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter)	rs768509996	0.00003
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)	rs761622153	0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg)	rs755505546	0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)	rs781050795	0.00003
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys)	rs200484060	0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His)	rs982218848	0.00003
NM_002354.3(EPCAM):c.556-14A>G	rs376155665	0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)	rs369326210	0.00003
NM_002662.5(PLD1):c.1219C>T (p.Arg407Ter)	rs200206423	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)	rs773714478	0.00003
NM_002929.3(GRK1):c.1177C>T (p.Arg393Ter)	rs137877289	0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003119.4(SPG7):c.1553-2_1553-1del	rs772828460	0.00003
NM_003322.6(TULP1):c.1495+1G>A	rs281865168	0.00003
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)	rs752452731	0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	rs998045226	0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)	rs1236647498	0.00003
NM_005535.3(IL12RB1):c.517C>T (p.Arg173Trp)	rs144702323	0.00003
NM_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg)	rs747710308	0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)	rs77103971	0.00003
NM_006759.4(UGP2):c.34A>G (p.Met12Val)	rs768305634	0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	rs28897672	0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)	rs80356740	0.00003
NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys)	rs372781135	0.00003
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln)	rs372298863	0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)	rs387906991	0.00003
NM_015465.5(GEMIN5):c.4496dup (p.Tyr1499Ter)	rs868028669	0.00003
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr)	rs967738491	0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)	rs370455806	0.00003
NM_016122.3(CEP83):c.1048+6A>G	rs562683007	0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	rs764571295	0.00003
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)	rs752022363	0.00003
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro)	rs375985254	0.00003
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter)	rs377600857	0.00003
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	rs142500730	0.00003
NM_019023.5(PRMT7):c.1490G>A (p.Arg497Gln)	rs753756119	0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)	rs151173406	0.00003
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg)	rs863225072	0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)	rs121908373	0.00003
NM_020987.5(ANK3):c.6695G>A (p.Arg2232Gln)	rs770107349	0.00003
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)	rs202013297	0.00003
NM_022041.4(GAN):c.805C>T (p.Arg269Trp)	rs776397915	0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)	rs376048533	0.00003
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)	rs141758325	0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)	rs773224617	0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_024809.5(TCTN2):c.271G>T (p.Val91Leu)	rs371662397	0.00003
NM_024876.4(COQ8B):c.748G>C (p.Asp250His)	rs769834604	0.00003
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)	rs777607274	0.00003
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser)	rs779748859	0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	rs121908639	0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	rs587776954	0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)	rs376040501	0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	rs199568593	0.00003
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly)	rs886050980	0.00003
NM_139248.3(LIPH):c.742C>A (p.His248Asn)	rs201868115	0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)	rs118203979	0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)	rs140614802	0.00003
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)	rs201732170	0.00003
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)	rs201088736	0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)	rs140257538	0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)	rs121908901	0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	rs767648174	0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)	rs397517963	0.00003
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00003
NM_207361.6(FREM2):c.6614A>G (p.Asp2205Gly)	rs771744013	0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met)	rs121908728	0.00002
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)	rs752783461	0.00002
NM_000051.4(ATM):c.901+1G>A	rs748840480	0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	rs587782292	0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)	rs779323689	0.00002
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter)	rs752907087	0.00002
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	rs182657062	0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)	rs1297118863	0.00002
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)	rs759982943	0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	rs80356483	0.00002
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	rs747610090	0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His)	rs772534106	0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=)	rs2304846	0.00002
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)	rs1264734195	0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)	rs746220312	0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)	rs764039230	0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)	rs780239925	0.00002
NM_000237.3(LPL):c.755T>C (p.Ile252Thr)	rs118204080	0.00002
NM_000256.3(MYBPC3):c.1224-52G>A	rs786204336	0.00002
NM_000256.3(MYBPC3):c.3190+5G>A	rs587782958	0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	rs397516142	0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln)	rs797045097	0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)	rs199606180	0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)	rs747656448	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	rs137854601	0.00002
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)	rs9332961	0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)	rs372307320	0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	rs72559722	0.00002
NM_000354.6(SERPINA7):c.1114del (p.Leu372fs)	rs587776719	0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)	rs771820315	0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299	0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His)	rs757918826	0.00002
NM_000486.6(AQP2):c.374C>T (p.Thr125Met)	rs104894333	0.00002
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)	rs559063128	0.00002
NM_000527.5(LDLR):c.1187-10G>A	rs765696008	0.00002
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)	rs150021927	0.00002
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)	rs746834464	0.00002
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser)	rs747721968	0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)	rs768233248	0.00002
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)	rs372770908	0.00002
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)	rs1313207845	0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)	rs763112609	0.00002
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)	rs138729528	0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	rs11540652	0.00002
NM_000553.6(WRN):c.3893G>T (p.Gly1298Val)	rs202129203	0.00002
NM_001002294.3(FMO3):c.1498C>T (p.Arg500Ter)	rs765373503	0.00002
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp)	rs765269946	0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)	rs869025513	0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)	rs179363900	0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)	rs74419361	0.00002
NM_001166114.2(PNPLA6):c.3304G>A (p.Ala1102Thr)	rs1236012815	0.00002
NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met)	rs758007485	0.00002
NM_001297.5(CNGB1):c.217+5G>C	rs527236060	0.00002
NM_001358530.2(MOCS1):c.646-6G>A	rs764778534	0.00002
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)	rs749890642	0.00002
NM_001376571.1(MADD):c.2851A>G (p.Ser951Gly)	rs780548837	0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A	rs889110926	0.00002
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe)	rs372187548	0.00002
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr)	rs763101025	0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)	rs537043237	0.00002
NM_002861.5(PCYT2):c.676C>T (p.His226Tyr)	rs778113360	0.00002
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)	rs748972748	0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)	rs766285158	0.00002
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr)	rs140626260	0.00002
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)	rs113994064	0.00002
NM_004035.7(ACOX1):c.629G>A (p.Arg210His)	rs372701360	0.00002
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)	rs565090080	0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His)	rs28940278	0.00002
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)	rs386833844	0.00002
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)	rs761051181	0.00002
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)	rs761669036	0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	rs386833880	0.00002
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)	rs267606918	0.00002
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)	rs121917704	0.00002
NM_005373.3(MPL):c.382G>T (p.Asp128Tyr)	rs201101813	0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)	rs398124208	0.00002
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)	rs139574075	0.00002
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)	rs144610914	0.00002
NM_012079.6(DGAT1):c.1183C>T (p.Arg395Ter)	rs372817613	0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	rs750732115	0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)	rs199506378	0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)	rs202238194	0.00002
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)	rs201095412	0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)	rs185741664	0.00002
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)	rs775295739	0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)	rs118203956	0.00002
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser)	rs141279192	0.00002
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys)	rs770576740	0.00002
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)	rs763721044	0.00002
NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp)	rs763325435	0.00002
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)	rs746953590	0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)	rs80338923	0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	rs80338925	0.00002
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)	rs754792792	0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)	rs766785968	0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_057176.3(BSND):c.35T>C (p.Ile12Thr)	rs121908144	0.00002
NM_144658.4(DOCK11):c.5653C>T (p.Arg1885Cys)	rs750008778	0.00002
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)	rs376239580	0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)	rs55940927	0.00002
NM_152416.4(NDUFAF6):c.420+784C>T	rs749738738	0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)	rs754875934	0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met)	rs753703762	0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)	rs763909903	0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)	rs759088490	0.00002
NM_170784.3(MKKS):c.1085A>G (p.His362Arg)	rs373858682	0.00002
NM_172240.3(POC1B):c.101-3T>G	rs750116711	0.00002
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)	rs558341655	0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=)	rs587777187	0.00002
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys)	rs1367145848	0.00002
NM_203447.4(DOCK8):c.5620G>A (p.Glu1874Lys)	rs779199376	0.00002
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	rs768161313	0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)	rs757154662	0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)	rs746071929	0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)	rs201529124	0.00002
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)	rs770329105	0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)	rs375668376	0.00002
NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser)	rs374360439	0.00002
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	rs387906950	0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	rs118204016	0.00001
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)	rs371316167	0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)	rs751635016	0.00001
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)	rs763542069	0.00001
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)	rs1257907226	0.00001
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)	rs1255903649	0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys)	rs121918399	0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)	rs767219084	0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)	rs764602422	0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	rs587779815	0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)	rs786204433	0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)	rs587780638	0.00001
NM_000051.4(ATM):c.72+1G>A	rs786204088	0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)	rs730881336	0.00001
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly)	rs2077660217	0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)	rs797045402	0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)	rs28942075	0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)	rs121907994	0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	rs201038679	0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	rs786204547	0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)	rs80359082	0.00001
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)	rs863224958	0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	rs142004418	0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	rs398123143	0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)	rs372438001	0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)	rs886042557	0.00001
NM_000070.3(CAPN3):c.2290del (p.Asp764fs)	rs886044527	0.00001
NM_000070.3(CAPN3):c.379+3A>G	rs1164215001	0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)	rs374391312	0.00001
NM_000083.3(CLCN1):c.1471+1G>A	rs375596425	0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	rs80356702	0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)	rs778034451	0.00001
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)	rs201859109	0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)	rs121912861	0.00001
NM_000092.5(COL4A4):c.827G>C (p.Gly276Ala)	rs202242354	0.00001
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)	rs1882232971	0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=)	rs782733685	0.00001
NM_000137.4(FAH):c.697G>A (p.Asp233Asn)	rs144902834	0.00001
NM_000138.5(FBN1):c.5788+5G>A	rs193922219	0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)	rs755436052	0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	rs863224007	0.00001
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)	rs776913133	0.00001
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)	rs1057517008	0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr)	rs777552825	0.00001
NM_000151.4(G6PC1):c.533C>T (p.Pro178Leu)	rs768803329	0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	rs786204720	0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	rs121907937	0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)	rs577042191	0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)	rs1057516600	0.00001
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)	rs1057516816	0.00001
NM_000153.4(GALC):c.583-9del	rs1886782078	0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	rs756352952	0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)	rs111033694	0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	rs111033749	0.00001
NM_000156.6(GAMT):c.391+15G>T	rs367567416	0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)	rs886043840	0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)	rs780976048	0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	rs755586631	0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	rs777201305	0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)	rs1085307455	0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His)	rs121909366	0.00001
NM_000163.5(GHR):c.618+792A>G	rs1011727375	0.00001
NM_000163.5(GHR):c.723C>T (p.Gly241=)	rs1260870046	0.00001
NM_000169.3(GLA):c.61C>T (p.Leu21Phe)	rs782164084	0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu)	rs769252159	0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	rs777849213	0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)	rs121917780	0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)	rs80358221	0.00001
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)	rs772311757	0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)	rs104894638	0.00001
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027	0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	rs794726878	0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	rs199473457	0.00001
NM_000228.3(LAMB3):c.298+5G>C	rs754529975	0.00001
NM_000232.5(SGCB):c.346A>G (p.Met116Val)	rs752168132	0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)	rs587778878	0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	rs121913625	0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)	rs397516157	0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	rs138049878	0.00001
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)	rs397516207	0.00001
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)	rs727503278	0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	rs397516209	0.00001
NM_000258.3(MYL3):c.446T>C (p.Met149Thr)	rs202141423	0.00001
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)	rs727503329	0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)	rs104894596	0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)	rs886043792	0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)	rs1052471595	0.00001
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr)	rs1046046139	0.00001
NM_000274.4(OAT):c.721_722dup (p.Asp242fs)	rs1468939642	0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	rs121965051	0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)	rs386833623	0.00001
NM_000275.3(OCA2):c.1045-15T>G	rs779461179	0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile)	rs121918171	0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	rs62508736	0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)	rs62644503	0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	rs62642945	0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)	rs192171304	0.00001
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)	rs199959402	0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)	rs61753225	0.00001
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter)	rs1273669177	0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)	rs145877597	0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)	rs1358047518	0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	rs759513930	0.00001
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)	rs199562225	0.00001
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)	rs1189568492	0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp)	rs121918143	0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	0.00001
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)	rs199473565	0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln)	rs780619649	0.00001
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)	rs121909744	0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)	rs61749420	0.00001
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)	rs369440533	0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	rs61750137	0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	rs61753017	0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	rs61753038	0.00001
NM_000350.3(ABCA4):c.6289C>T (p.Pro2097Ser)	rs1166357291	0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	rs61753046	0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)	rs72559734	0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	rs1201126343	0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)	rs201853046	0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys)	rs1021029193	0.00001
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	rs397516349	0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	rs397516354	0.00001
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del)	rs1474804613	0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His)	rs121908209	0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)	rs1696330609	0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)	rs1438626607	0.00001
NM_000440.3(PDE6A):c.1407+1G>C	rs781616522	0.00001
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)	rs760352870	0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)	rs760413427	0.00001
NM_000453.3(SLC5A5):c.1546C>T (p.Arg516Ter)	rs371248346	0.00001
NM_000455.5(STK11):c.617C>T (p.Ala206Val)	rs764244639	0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)	rs199665722	0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)	rs866625610	0.00001
NM_000487.6(ARSA):c.1108-3C>G	rs1001100248	0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)	rs74315480	0.00001
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)	rs777431148	0.00001
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)	rs199476373	0.00001
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	rs199476375	0.00001
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr)	rs199476341	0.00001
NM_000487.6(ARSA):c.771T>A (p.Asp257Glu)	rs563053401	0.00001
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	rs74315459	0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)	rs267606755	0.00001
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)	rs1554299737	0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)	rs12530380	0.00001
NM_000508.3(FGA):c.103C>T (p.Arg35Cys)	rs121909606	0.00001
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)	rs755832705	0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)	rs398123438	0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	rs28942071	0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)	rs1309123671	0.00001
NM_000521.4(HEXB):c.1509-26G>A	rs201580118	0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	rs121907983	0.00001
NM_000521.4(HEXB):c.1614-16_1622dup	rs756912360	0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)	rs373979283	0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)	rs138914144	0.00001
NM_000527.4(LDLR):c.313+1G>A	rs112029328	0.00001
NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe)	rs755757866	0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	rs193922566	0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)	rs730882099	0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)	rs748554592	0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	rs28942078	0.00001
NM_000527.5(LDLR):c.190+4A>T	rs769446356	0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)	rs730882110	0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)	rs767618089	0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)	rs751538672	0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)	rs1349202366	0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)	rs769521436	0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)	rs764697873	0.00001
NM_000535.7(PMS2):c.538-2A>G	rs758304323	0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	rs29001566	0.00001
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	rs193922803	0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	rs61748436	0.00001
NM_000587.4(C7):c.281-1G>T	rs531103546	0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	rs781580050	0.00001
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)	rs1131691438	0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	rs531425980	0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)	rs775685508	0.00001
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)	rs375957868	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	rs200883871	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)	rs560108684	0.00001
NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu)	rs201212000	0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100	0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)	rs1367567191	0.00001
NM_001017974.2(P4HA2):c.871G>A (p.Glu291Lys)	rs758872875	0.00001
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His)	rs776690106	0.00001
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)	rs748900391	0.00001
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter)	rs375857763	0.00001
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp)	rs201168980	0.00001
NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro)	rs386833723	0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	rs760703505	0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)	rs886037961	0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	rs119462987	0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	rs119462982	0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)	rs118203984	0.00001
NM_001080.3(ALDH5A1):c.1321G>A (p.Gly441Arg)	rs1041467895	0.00001
NM_001080449.3(DNA2):c.939+1G>A	rs747618371	0.00001
NM_001080512.3(BICC1):c.2795A>G (p.Glu932Gly)	rs387907124	0.00001
NM_001081.4(CUBN):c.6821+3A>G	rs767078847	0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)	rs1064797047	0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)	rs779357448	0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)	rs753523115	0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)	rs185927948	0.00001
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)	rs778673716	0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)	rs150877497	0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)	rs758993965	0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)	rs746243052	0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)	rs1177052380	0.00001
NM_001142800.2(EYS):c.5644+5G>A	rs794727412	0.00001
NM_001142800.2(EYS):c.6191+1G>A	rs1048032321	0.00001
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)	rs1562190751	0.00001
NM_001145308.5(LRTOMT):c.154C>T (p.Arg52Trp)	rs1372399805	0.00001
NM_001163435.3(TBCK):c.247C>T (p.Arg83Ter)	rs763057505	0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)	rs539819851	0.00001
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln)	rs1057517802	0.00001
NM_001171.6(ABCC6):c.3507-1G>A	rs72664210	0.00001
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys)	rs1471249688	0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)	rs587784299	0.00001
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)	rs200664140	0.00001
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)	rs28989182	0.00001
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)	rs186643840	0.00001
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)	rs1590947700	0.00001
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)	rs553821887	0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)	rs367665974	0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys)	rs2036159242	0.00001
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu)	rs199567025	0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser)	rs367567630	0.00001
NM_001287.6(CLCN7):c.739-18G>A	rs371893553	0.00001
NM_001291303.3(FAT4):c.2824A>G (p.Ile942Val)	rs368138514	0.00001
NM_001292063.2(OTOG):c.3682+1G>A	rs554063575	0.00001
NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg)	rs752967885	0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp)	rs749842881	0.00001
NM_001349.4(DARS1):c.1277T>C (p.Leu426Ser)	rs377510027	0.00001
NM_001352754.2(ARMC9):c.51+5G>T	rs1114167447	0.00001
NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp)	rs1557230213	0.00001
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp)	rs267606768	0.00001
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs)	rs776790336	0.00001
NM_001367561.1(DOCK7):c.4717A>G (p.Ser1573Gly)	rs376119113	0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	rs397514387	0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	rs749162799	0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	rs267607235	0.00001
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)	rs559155109	0.00001
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)	rs775370485	0.00001
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu)	rs137853025	0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg)	rs780560784	0.00001
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)	rs763496520	0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr)	rs1334969328	0.00001
NM_001492.6(GDF1):c.608G>A (p.Trp203Ter)	rs1359321518	0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)	rs606231459	0.00001
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)	rs1399676515	0.00001
NM_001846.4(COL4A2):c.1776+1G>A	rs886039602	0.00001
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)	rs267606747	0.00001
NM_001875.5(CPS1):c.937A>G (p.Met313Val)	rs587780323	0.00001
NM_001918.5(DBT):c.434-15_434-4del	rs727503895	0.00001
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)	rs946234163	0.00001
NM_002076.4(GNS):c.1603A>G (p.Met535Val)	rs1320846022	0.00001
NM_002185.5(IL7R):c.83-2A>T	rs886060531	0.00001
NM_002206.3(ITGA7):c.3322C>T (p.Arg1108Trp)	rs775801045	0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)	rs765815516	0.00001
NM_002225.5(IVD):c.263G>A (p.Gly88Asp)	rs779579351	0.00001
NM_002292.4(LAMB2):c.4033C>T (p.Arg1345Cys)	rs775469931	0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)	rs1270099780	0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	rs140992482	0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)	rs137853062	0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	rs80338827	0.00001
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg)	rs1466750124	0.00001
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)	rs80356677	0.00001
NM_002529.4(NTRK1):c.2311C>T (p.Arg771Cys)	rs1324983370	0.00001
NM_002529.4(NTRK1):c.311G>A (p.Arg104His)	rs578095133	0.00001
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)	rs377295149	0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	rs111033565	0.00001
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile)	rs121918103	0.00001
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	rs121918470	0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)	rs397507504	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs)	rs1555211286	0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)	rs761533681	0.00001
NM_003038.5(SLC1A4):c.964C>T (p.Arg322Ter)	rs765089126	0.00001
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg)	rs1697439559	0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	rs746187344	0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)	rs72552727	0.00001
NM_003119.4(SPG7):c.759-2A>G	rs770299071	0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter)	rs1158418673	0.00001
NM_003322.6(TULP1):c.1246C>T (p.Arg416Cys)	rs200769197	0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)	rs527236117	0.00001
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)	rs368993197	0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	rs773138218	0.00001
NM_003551.3(NME5):c.572G>A (p.Trp191Ter)	rs182049871	0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)	rs587784330	0.00001
NM_003721.4(RFXANK):c.438+5G>A	rs1196984337	0.00001
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)	rs745557569	0.00001
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)	rs770497192	0.00001
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter)	rs756807746	0.00001
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg)	rs1203386884	0.00001
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys)	rs758723288	0.00001
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)	rs201865375	0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)	rs267606676	0.00001
NM_004269.4(MED27):c.188T>G (p.Val63Gly)	rs774752053	0.00001
NM_004269.4(MED27):c.871G>A (p.Gly291Ser)	rs774276967	0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	rs868064163	0.00001
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660	0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)	rs1204519015	0.00001
NM_004646.4(NPHS1):c.2815+3A>G	rs1223946044	0.00001
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)	rs1562912305	0.00001
NM_004722.4(AP4M1):c.1137+1G>T	rs770705832	0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)	rs754498075	0.00001
NM_004826.4(ECEL1):c.1810G>A (p.Gly604Arg)	rs745378093	0.00001
NM_004830.4(MED23):c.1078-6T>G	rs750247163	0.00001
NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val)	rs529920914	0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	rs746307931	0.00001
NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn)	rs771732216	0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	rs193922680	0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	rs267606706	0.00001
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser)	rs864309688	0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)	rs1424516740	0.00001
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	rs750046020	0.00001
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	rs745517517	0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)	rs539332585	0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)	rs143550601	0.00001
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter)	rs776813259	0.00001
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)	rs369478532	0.00001
NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter)	rs377726402	0.00001
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys)	rs567563179	0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	rs200851583	0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	rs1338631330	0.00001
NM_006182.4(DDR2):c.2255G>A (p.Arg752His)	rs1374086542	0.00001
NM_006204.4(PDE6C):c.1004+1G>A	rs958171434	0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)	rs121434502	0.00001
NM_006269.2(RP1):c.4196del (p.Cys1399fs)	rs762951570	0.00001
NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys)	rs149378938	0.00001
NM_006302.3(MOGS):c.1517G>A (p.Arg506Gln)	rs757364620	0.00001
NM_006302.3(MOGS):c.1688G>A (p.Arg563Gln)	rs769741414	0.00001
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)	rs527236084	0.00001
NM_006348.5(COG5):c.556A>G (p.Ile186Val)	rs764180413	0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)	rs780978419	0.00001
NM_006371.5(CRTAP):c.802G>A (p.Val268Ile)	rs112423184	0.00001
NM_006412.4(AGPAT2):c.662-2A>C	rs1131691791	0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	rs1223430276	0.00001
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp)	rs1283838287	0.00001
NM_006949.4(STXBP2):c.560C>T (p.Pro187Leu)	rs765763103	0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)	rs782269909	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)	rs80356721	0.00001
NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter)	rs1554847435	0.00001
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val)	rs774505755	0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)	rs180177312	0.00001
NM_012247.5(SEPHS1):c.1112G>A (p.Arg371Gln)	rs1833029885	0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_013328.4(PYCR2):c.309del (p.Val104fs)	rs2102672892	0.00001
NM_013328.4(PYCR2):c.40G>C (p.Ala14Pro)	rs1210762206	0.00001
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)	rs763004980	0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	rs121912631	0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)	rs201883601	0.00001
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)	rs778434126	0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	rs121918329	0.00001
NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe)	rs11544803	0.00001
NM_014425.5(INVS):c.2224G>A (p.Val742Met)	rs115598824	0.00001
NM_014712.3(SETD1A):c.4582-2_4582-1del	rs755127868	0.00001
NM_014780.5(CUL7):c.4570G>A (p.Val1524Ile)	rs369045809	0.00001
NM_014806.5(RUSC2):c.3511G>A (p.Asp1171Asn)	rs781773351	0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)	rs773371488	0.00001
NM_014946.4(SPAST):c.1245+1G>A	rs875989878	0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)	rs387907310	0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)	rs1169623576	0.00001
NM_015386.3(COG4):c.529C>T (p.Arg177Ter)	rs376663459	0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)	rs864622269	0.00001
NM_015958.3(DPH5):c.779A>G (p.His260Arg)	rs746680777	0.00001
NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val)	rs768950892	0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val)	rs757173567	0.00001
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys)	rs1045118320	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_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)	rs755311638	0.00001
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=)	rs878853228	0.00001
NM_017671.5(FERMT1):c.1718+2T>C	rs760256639	0.00001
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)	rs200626873	0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)	rs1451777867	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met)	rs756536922	0.00001
NM_018122.5(DARS2):c.1441G>A (p.Val481Met)	rs748312411	0.00001
NM_018122.5(DARS2):c.563G>A (p.Arg188Gln)	rs182811621	0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter)	rs550032922	0.00001
NM_018130.3(SHQ1):c.997C>G (p.Leu333Val)	rs759531964	0.00001
NM_018192.4(P3H2):c.1523G>T (p.Gly508Val)	rs724159988	0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)	rs75895925	0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)	rs587779411	0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)	rs764742792	0.00001
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)	rs1178528306	0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)	rs398124348	0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)	rs119468005	0.00001
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)	rs749969789	0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)	rs121912819	0.00001
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter)	rs769164245	0.00001
NM_020964.3(EPG5):c.1936A>G (p.Met646Val)	rs745736928	0.00001
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)	rs387906960	0.00001
NM_021942.6(TRAPPC11):c.751T>C (p.Tyr251His)	rs773950166	0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)	rs119485088	0.00001
NM_022124.6(CDH23):c.553G>A (p.Gly185Ser)	rs375465342	0.00001
NM_022464.5(SIL1):c.1030-18G>A	rs769052639	0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	rs748902766	0.00001
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)	rs375110174	0.00001
NM_023036.6(DNAI2):c.740G>A (p.Arg247Gln)	rs755060592	0.00001
NM_023077.3(COA7):c.17A>G (p.Asp6Gly)	rs780572767	0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr)	rs727505361	0.00001
NM_024649.5(BBS1):c.951+1G>A	rs746875134	0.00001
NM_024678.6(NARS2):c.506T>A (p.Phe169Tyr)	rs144653284	0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)	rs1555202697	0.00001
NM_024757.5(EHMT1):c.2842C>T (p.Arg948Trp)	rs368702408	0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val)	rs532178791	0.00001
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter)	rs387907013	0.00001
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu)	rs779286671	0.00001
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)	rs200876642	0.00001
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu)	rs201987973	0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	rs567573386	0.00001
NM_032383.5(HPS3):c.2589+2T>C	rs1411572278	0.00001
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys)	rs769950582	0.00001
NM_032492.4(JAGN1):c.56A>G (p.His19Arg)	rs748123071	0.00001
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn)	rs768063378	0.00001
NM_032861.4(SERAC1):c.487+5T>C	rs748641688	0.00001
NM_033409.4(SLC52A3):c.710C>T (p.Ala237Val)	rs773916730	0.00001
NM_033419.5(PGAP3):c.850C>G (p.His284Asp)	rs759541820	0.00001
NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)	rs558493952	0.00001
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter)	rs398122363	0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)	rs749936057	0.00001
NM_052988.5(CDK10):c.520_521del (p.Lys174fs)	rs1567520269	0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	rs121908644	0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	rs121908636	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_133459.4(CCBE1):c.552T>C (p.Thr184=)	rs771507895	0.00001
NM_138376.3(TTC5):c.787C>T (p.Arg263Ter)	rs199831317	0.00001
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)	rs761046498	0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)	rs397509419	0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)	rs753873681	0.00001
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)	rs747257567	0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)	rs180177356	0.00001
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)	rs386834113	0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)	rs769611275	0.00001
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter)	rs1560323242	0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	rs267607578	0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr)	rs121909591	0.00001
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln)	rs764745147	0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)	rs758131044	0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys)	rs753505066	0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)	rs768412580	0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)	rs151275562	0.00001
NM_178172.6(GPIHBP1):c.193T>C (p.Cys65Arg)	rs1300685456	0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	rs267607017	0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)	rs104894378	0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	rs104894708	0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)	rs398124603	0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)	rs121909715	0.00001
NM_198576.4(AGRN):c.1553C>T (p.Thr518Met)	rs746322262	0.00001
NM_198576.4(AGRN):c.1891G>A (p.Val631Met)	rs748716996	0.00001
NM_201253.3(CRB1):c.4006-10A>G	rs766850702	0.00001
NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr)	rs911362591	0.00001
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)	rs779716464	0.00001
NM_206933.4(USH2A):c.11389+3A>T	rs753886165	0.00001
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)	rs1656936749	0.00001
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	rs201863550	0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	rs111033263	0.00001
NM_207346.3(TSEN54):c.369+5G>A	rs756343304	0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)	rs199476187	0.00001
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro)	rs199476197	0.00001
NR_003051.4(RMRP):n.232C>T	rs762145032	0.00001
NC_000011.10:g.2171856C>T	rs1372180906
NC_000011.10:g.47332282_47332306del	rs36212066
NC_000011.10:g.47347065C>T	rs864622197
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NC_012920.1(MT-ATP6):m.8969G>A	rs794726857
NC_012920.1(MT-ATP6):m.9035T>C	rs1603222000
NC_012920.1(MT-ATP6):m.9176T>C	rs199476135
NC_012920.1(MT-ND5):m.13042G>A	rs267606898
NC_012920.1(MT-ND6):m.14453G>A	rs199476107
NC_012920.1(MT-RNR1):m.827A>G	rs28358569
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NC_012920.1(MT-TL1):m.3291T>C	rs869312463
NC_012920.1(MT-TL1):m.3302A>G	rs1603218878
NC_012920.1(MT-TV):m.1661A>G	rs1057516055
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)	rs149678400
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	rs28936401
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs)	rs1592228303
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr)	rs63751024
NM_000022.4(ADA):c.385G>A (p.Val129Met)	rs121908731
NM_000023.4(SGCA):c.1A>G (p.Met1Val)	rs2509113878
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)	rs201701066
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)	rs128624220
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp)	rs782370364
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	rs1569541088
NM_000033.4(ABCD1):c.253del (p.Arg85fs)	rs713993050
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)	rs2091707324
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	rs1131691916
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)	rs1569540710
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)	rs2148389929
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)	rs387906496
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	rs797044610
NM_000035.4(ALDOB):c.113-1_115del	rs786204598
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	rs387906225
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)	rs1172384674
NM_000037.4(ANK1):c.1405-9G>A	rs2486915489
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu)	rs267601925
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter)	rs2150593157
NM_000041.4(APOE):c.460C>T (p.Arg154Cys)
NM_000044.6(AR):c.1846C>T (p.Arg616Cys)	rs1555990485
NM_000044.6(AR):c.2710G>T (p.Val904Leu)	rs2147540656
NM_000048.4(ASL):c.1138A>G (p.Lys380Glu)	rs2485028603
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs)	rs1554326365
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	rs104894548
NM_000051.3(ATM):c.2839-579_2839-576del	rs587776552
NM_000051.4(ATM):c.1065+1G>T	rs201089102
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)	rs786203783
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA	rs786202148
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.331+5G>A	rs752135143
NM_000051.4(ATM):c.4236+1G>A	rs876660674
NM_000051.4(ATM):c.5178-1G>A	rs1555105579
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser)	rs1555119899
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	rs121434220
NM_000051.4(ATM):c.7629+1G>A	rs1565532703
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)	rs759965045
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	rs587780639
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)	rs1450394308
NM_000051.4(ATM):c.7927+5del	rs786204437
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)	rs1060504292
NM_000051.4(ATM):c.8659C>G (p.His2887Asp)	rs1591274530
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala)	rs782616685
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys)	rs2077659011
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser)	rs1569549840
NM_000052.7(ATP7A):c.1870-1G>C	rs797045338
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp)	rs797045350
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg)	rs539177302
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)	rs2522293888
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)	rs1057516305
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	rs137853287
NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys)	rs2547671027
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	rs786204483
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)	rs758355520
NM_000054.7(AVPR2):c.316C>T (p.Arg106Cys)	rs2148514430
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)	rs1557100594
NM_000057.4(BLM):c.98+1G>T	rs750293380
NM_000057.4(BLM):c.99-8_112del	rs2151146678
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)	rs80359656
NM_000059.4(BRCA2):c.8488-1G>A	rs397507404
NM_000062.3(SERPING1):c.553G>C (p.Ala185Pro)	rs1335168882
NM_000063.6(C2):c.841_849+19del	rs9332736
NM_000070.3(CAPN3):c.1115+2T>C	rs1057524468
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	rs775453643
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	rs773827877
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)	rs557164942
NM_000070.3(CAPN3):c.1536G>C (p.Glu512Asp)
NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)	rs2054129122
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)	rs763719290
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	rs141502207
NM_000074.3(CD40LG):c.158_161del
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter)	rs1603321772
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	rs137852801
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)	rs2151098283
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)	rs2527805640
NM_000081.4(LYST):c.7460+3_7460+6del	rs2527732015
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)	rs2531798461
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)	rs749552056
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)	rs139039122
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser)	rs68114505
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser)	rs72653169
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg)	rs1555571769
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	rs72667022
NM_000089.4(COL1A2):c.2774G>A (p.Gly925Asp)
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)	rs112456072
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	rs587779650
NM_000091.5(COL4A3):c.1883G>A (p.Gly628Asp)	rs2125996545
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)	rs779489401
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])	rs756539994
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)	rs773081522
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp)	rs1553644402
NM_000092.5(COL4A4):c.2420del (p.Gly807fs)	rs786205640
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer)	rs748473278
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs)	rs2473974445
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)	rs1408907127
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)	rs1838467288
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)	rs863223452
NM_000094.4(COL7A1):c.5318G>T (p.Gly1773Val)	rs2107697174
NM_000094.4(COL7A1):c.8165G>A (p.Gly2722Asp)	rs759949767
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000095.3(COMP):c.895G>A (p.Gly299Arg)	rs2145903238
NM_000095.3(COMP):c.925G>A (p.Gly309Arg)	rs2145903203
NM_000095.3(COMP):c.976G>A (p.Asp326Asn)	rs2145902345
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)	rs28936673
NM_000103.4(CYP19A1):c.367C>T (p.Gln123Ter)
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer)	rs766425037
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup)	rs121913031
NM_000112.4(SLC26A2):c.395T>C (p.Leu132Pro)	rs1755026324
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	rs80358233
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)	rs1085307797
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)	rs1363815113
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)	rs372750330
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	rs137852416
NM_000132.4(F8):c.4379del (p.Asn1460fs)	rs387906455
NM_000135.4(FANCA):c.189+1G>A	rs891323617
NM_000135.4(FANCA):c.1A>G (p.Met1Val)	rs772751654
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)	rs2544195729
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)	rs2039260856
NM_000135.4(FANCA):c.2853-15_2856del	rs1285346388
NM_000135.4(FANCA):c.4010+2T>C	rs2062067746
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099
NM_000137.4(FAH):c.1090G>C (p.Glu364Gln)	rs121965076
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	rs730880099
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)	rs794728206
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	rs137854467
NM_000138.5(FBN1):c.4337-1G>T	rs1555397424
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)	rs1131691804
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	rs794728334
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)	rs794728162
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)	rs113001196
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	rs137854480
NM_000138.5(FBN1):c.7204+1G>A	rs1555394557
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)	rs794728283
NM_000138.5(FBN1):c.8226+1G>A	rs398122833
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	rs121918506
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)	rs28928868
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_000142.5(FGFR3):c.749C>T (p.Pro250Leu)	rs4647924
NM_000143.4(FH):c.378+1G>A	rs1660143675
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)	rs2122436225
NM_000147.5(FUCA1):c.768+1G>A	rs1639468949
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)	rs2056092151
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)	rs1291214871
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)	rs747150965
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)	rs1057516277
NM_000153.4(GALC):c.1034-2A>G	rs2503431601
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile)	rs750431739
NM_000153.4(GALC):c.818C>T (p.Ser273Phe)
NM_000154.2(GALK1):c.410del (p.Gly137fs)	rs767329054
NM_000155.4(GALT):c.-119_-116delGTCA	rs111033640
NM_000155.4(GALT):c.598del (p.Gln200fs)	rs111033738
NM_000155.4(GALT):c.957C>G (p.His319Gln)	rs111033792
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000159.4(GCDH):c.1018C>T (p.Leu340Phe)	rs1599617735
NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser)	rs2145955095
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)	rs745360675
NM_000159.4(GCDH):c.150G>C (p.Trp50Cys)	rs1970564149
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)	rs1003611285
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)	rs1468636851
NM_000161.3(GCH1):c.631_632del (p.Met211fs)	rs886039379
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr)	rs193922282
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu)	rs104893964
NM_000166.6(GJB1):c.580A>G (p.Met194Val)	rs587777878
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002
NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)	rs121917712
NM_000169.3(GLA):c.178C>T (p.Pro60Ser)	rs727504689
NM_000169.3(GLA):c.195-2A>G	rs2147480960
NM_000169.3(GLA):c.557A>C (p.His186Pro)
NM_000169.3(GLA):c.717A>G (p.Ile239Met)	rs1928192530
NM_000169.3(GLA):c.874G>A (p.Ala292Thr)	rs111812846
NM_000169.3(GLA):c.936G>C (p.Gln312His)	rs570042882
NM_000170.3(GLDC):c.1484_1489del	rs778109389
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)	rs1817497974
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)	rs376505707
NM_000182.5(HADHA):c.2027G>A (p.Arg676His)	rs1204190984
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)	rs767159114
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	rs1064794848
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	rs1057517928
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys)	rs998842815
NM_000191.3(HMGCL):c.230del (p.Val77fs)	rs1638632303
NM_000199.5(SGSH):c.496C>T (p.Gln166Ter)	rs2510893525
NM_000199.5(SGSH):c.637dup (p.Gln213fs)	rs2144742329
NM_000202.8(IDS):c.241-9C>G	rs2089497858
NM_000202.8(IDS):c.469C>T (p.Pro157Ser)	rs864622774
NM_000202.8(IDS):c.479C>T (p.Pro160Leu)
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	rs104894860
NM_000202.8(IDS):c.817C>T (p.Arg273Trp)	rs1602740899
NM_000214.3(JAG1):c.3048+1G>T	rs876661121
NM_000214.3(JAG1):c.3G>A (p.Met1Ile)	rs1555831014
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)	rs57536312
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)	rs1013015106
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr)	rs121912526
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn)	rs1446626293
NM_000235.4(LIPA):c.1067T>G (p.Leu356Ter)	rs2133411704
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000251.3(MSH2):c.2458+1G>A	rs267608010
NM_000256.3(MYBPC3):c.1224-33G>A
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)	rs397515905
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs)	rs730880640
NM_000256.3(MYBPC3):c.1645C>T (p.Gln549Ter)	rs2142860329
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)	rs727504288
NM_000256.3(MYBPC3):c.2905+1G>A	rs397515991
NM_000257.4(MYH7):c.1423C>A (p.Gln475Lys)	rs1566534775
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	rs727503263
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)	rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	rs121913641
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)	rs397516155
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	rs121913628
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys)	rs727504274
NM_000257.4(MYH7):c.5655+5G>A	rs1595070689
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	rs397516264
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	rs3218713
NM_000257.4(MYH7):c.755T>C (p.Phe252Ser)	rs727505202
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)	rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)	rs139794067
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)	rs1555095933
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)	rs1385324903
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)	rs111033232
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)	rs104894598
NM_000263.4(NAGLU):c.2137C>T (p.Gln713Ter)
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)	rs1555622589
NM_000264.5(PTCH1):c.654+3A>G	rs1131690966
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)	rs483352886
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr)	rs1181604094
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	rs80358254
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)	rs1555631998
NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe)	rs1234099104
NM_000271.5(NPC1):c.3591+2dup	rs2145342749
NM_000276.4(OCRL):c.1245-20T>G	rs750377065
NM_000277.3(PAH):c.1065+1G>T	rs62516147
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	rs199475624
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)	rs199475626
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	rs74486803
NM_000277.3(PAH):c.591G>C (p.Leu197Phe)	rs281865442
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	rs199475697
NM_000277.3(PAH):c.676C>A (p.Gln226Lys)	rs62508696
NM_000277.3(PAH):c.969+1G>A	rs62508584
NM_000282.4(PCCA):c.183+1G>A	rs757540625
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)	rs150639487
NM_000284.4(PDHA1):c.1009-16_1010del	rs2147188973
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	rs863224148
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)	rs2147176072
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	rs794729213
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	rs1569190962
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)	rs2063213272
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)	rs751058068
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)	rs34667348
NM_000294.3(PHKG2):c.800_801+34del	rs2151310413
NM_000297.4(PKD2):c.690del (p.Leu231fs)	rs2475869442
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn)	rs747097960
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)	rs2060674564
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)	rs80338703
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)	rs1555449795
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)	rs201440361
NM_000303.3(PMM2):c.639+1G>A	rs1057517183
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)	rs78290141
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro)	rs151319324
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)	rs1597607651
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)	rs104893765
NM_000310.4(PPT1):c.362+5G>A	rs796052924
NM_000310.4(PPT1):c.433+1G>A	rs1553167415
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)	rs386833662
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys)	rs387906674
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)	rs121909229
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)	rs1060500126
NM_000314.8(PTEN):c.518G>A (p.Arg173His)	rs121913294
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)	rs61755786
NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn)	rs2152010859
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)	rs61755805
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser)	rs772800095
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	rs1553152989
NM_000329.3(RPE65):c.1451-1G>A	rs1317871521
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	rs104894928
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)	rs199469696
NM_000340.2(SLC2A2):c.*83A>T	rs993283861
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu)	rs567478582
NM_000341.4(SLC3A1):c.1617+1dup	rs2104385579
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	rs769664228
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)	rs121912745
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys)	rs768831308
NM_000346.4(SOX9):c.507C>G (p.His169Gln)	rs2229989
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His)	rs201175894
NM_000349.3(STAR):c.544C>T (p.Arg182Cys)	rs369232492
NM_000350.3(ABCA4):c.3420C>G (p.Cys1140Trp)	rs2101048569
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	rs61752439
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	rs886044746
NM_000350.3(ABCA4):c.5196+3_5196+6del	rs61753023
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)	rs62642562
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)	rs367839100
NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)	rs2100994077
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)	rs760520781
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)	rs797045213
NM_000359.3(TGM1):c.400T>C (p.Tyr134His)	rs1230140208
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe)	rs1555306304
NM_000359.3(TGM1):c.984+1G>A	rs749160734
NM_000360.4(TH):c.779del (p.Arg260fs)	rs2495805751
NM_000363.5(TNNI3):c.204del (p.Arg69fs)	rs727504872
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)	rs730881069
NM_000368.5(TSC1):c.1005dup (p.Arg336fs)	rs2131975092
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)	rs118203537
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	rs118203542
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)	rs118203549
NM_000368.5(TSC1):c.363+668G>T	rs2132219029
NM_000368.5(TSC1):c.664-15A>G	rs118203422
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)	rs121918082
NM_000371.4(TTR):c.425T>C (p.Val142Ala)	rs2144414426
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter)	rs121909792
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del)	rs1569494034
NM_000380.4(XPA):c.389+1G>A	rs1554701931
NM_000382.3(ALDH3A2):c.551C>G (p.Thr184Arg)	rs72547562
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter)	rs1555533754
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000390.4(CHM):c.1520A>G (p.His507Arg)	rs397514603
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)	rs1471156821
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)	rs397515624
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)	rs749980306
NM_000404.4(GLB1):c.574T>C (p.Tyr192His)	rs1408171481
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)	rs1559401428
NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter)	rs1402804629
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	rs137853097
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs)	rs1057516312
NM_000416.3(IFNGR1):c.653_655del (p.Glu218del)	rs587776858
NM_000419.5(ITGA2B):c.3017dup (p.Gly1007fs)	rs1291802895
NM_000424.4(KRT5):c.539CCT[1] (p.Ser181del)	rs2498409143
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)	rs746844753
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	rs202247790
NM_000433.4(NCF2):c.290C>A (p.Ala97Asp)	rs755222977
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)	rs1555730189
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	rs75068032
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro)	rs145069047
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	rs775836288
NM_000435.3(NOTCH3):c.503G>A (p.Cys168Tyr)	rs2145441901
NM_000436.4(OXCT1):c.1248+5G>A	rs1561081472
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	rs397516413
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	rs768471577
NM_000441.2(SLC26A4):c.164+1del	rs786204504
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	rs397516427
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)	rs370588279
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)	rs1219724284
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)	rs111033199
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)	rs875989883
NM_000444.6(PHEX):c.934-2A>G	rs1930291143
NM_000454.5(SOD1):c.143T>C (p.Val48Ala)	rs1568809169
NM_000454.5(SOD1):c.376G>C (p.Asp126His)	rs1568811372
NM_000454.5(SOD1):c.95T>C (p.Val32Ala)	rs1428716759
NM_000455.5(STK11):c.500T>C (p.Leu167Pro)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)	rs193922490
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)	rs886043813
NM_000459.5(TEK):c.1490-1G>A	rs1380793724
NM_000459.5(TEK):c.154dup (p.His52fs)	rs2131119729
NM_000459.5(TEK):c.3165C>A (p.Tyr1055Ter)	rs1826003461
NM_000459.5(TEK):c.3251C>G (p.Ser1084Ter)	rs2131266023
NM_000459.5(TEK):c.470_471insTGGT (p.Lys157fs)	rs2131141182
NM_000459.5(TEK):c.857G>T (p.Gly286Val)	rs2131150099
NM_000466.3(PEX1):c.357+1G>T	rs866144313
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)	rs1585616948
NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu)	rs121909191
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)	rs753221440
NM_000481.4(AMT):c.970_972del (p.Met324del)	rs386833691
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del)	rs121912681
NM_000487.6(ARSA):c.1107+1del	rs1057517036
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)	rs2518322313
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)	rs199476342
NM_000487.6(ARSA):c.979_979+3del	rs1057516887
NM_000488.4(SERPINC1):c.1154-14G>A	rs542881762
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)	rs1057517707
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)	rs122445105
NM_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)	rs397508170
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp)	rs1163866901
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)	rs121908777
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	rs397508412
NM_000492.4(CFTR):c.274-2A>G	rs397508426
NM_000492.4(CFTR):c.3140-11A>G	rs1234696445
NM_000492.4(CFTR):c.454A>G (p.Met152Val)	rs397508721
NM_000500.9(CYP21A2):c.292+1G>A	rs779144910
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.68G>A (p.Trp23Ter)	rs1775988406
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	rs267606756
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)	rs566453434
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)	rs752937387
NM_000512.5(GALNS):c.143T>C (p.Val48Ala)	rs191519947
NM_000512.5(GALNS):c.423-862C>T	rs1597575641
NM_000512.5(GALNS):c.566+3A>C
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	rs747805226
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)	rs137854535
NM_000520.6(HEXA):c.1258del (p.Trp420fs)	rs1216659000
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp)	rs121907959
NM_000521.4(HEXB):c.833C>T (p.Ala278Val)	rs886044118
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile)	rs2112171931
NM_000521.4(HEXB):c.899_900dup (p.Gly301fs)
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys)	rs879254864
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)	rs745753810
NM_000527.5(LDLR):c.2416dup (p.Val806fs)	rs773618064
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)	rs121908033
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)	rs121908029
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	rs140241383
NM_000528.4(MAN2B1):c.1109+1G>C	rs2024027294
NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser)	rs377104016
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro)	rs139041112
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)	rs104894659
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)	rs121913601
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)	rs121913587
NM_000531.6(OTC):c.841T>G (p.Phe281Val)
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)	rs753037539
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)	rs1052979420
NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	rs104893796
NM_000539.3(RHO):c.448G>A (p.Glu150Lys)	rs104893791
NM_000539.3(RHO):c.563G>A (p.Gly188Glu)	rs1424131846
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)	rs1553781360
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	rs794728696
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	rs63749869
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)	rs118192151
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)	rs1064794572
NM_000543.5(SMPD1):c.1264-1G>C	rs1057516454
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)	rs281860676
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln)	rs1590747902
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser)	rs2134024060
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)	rs120074118
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)	rs748165078
NM_000543.5(SMPD1):c.597del (p.Val200fs)	rs2493805239
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)	rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)	rs754729248
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)	rs765432081
NM_000546.6(TP53):c.818G>A (p.Arg273His)	rs28934576
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)	rs137854298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	rs28934872
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)	rs397514914
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val)	rs397515163
NM_000548.5(TSC2):c.225+1G>A	rs1567387207
NM_000548.5(TSC2):c.2355G>A (p.Gln785=)	rs2088708544
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	rs45517099
NM_000548.5(TSC2):c.4790T>C (p.Leu1597Pro)	rs45517370
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)	rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)	rs397515097
NM_000551.4(VHL):c.284C>G (p.Pro95Arg)	rs964996401
NM_000553.6(WRN):c.1165del (p.Arg389fs)	rs878854131
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)	rs397514668
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr)	rs74315387
NM_000558.5(HBA1):c.262C>T (p.His88Tyr)	rs28928876
NM_000558.5(HBA1):c.328del (p.Leu110fs)	rs281864535
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)	rs1553186613
NM_000660.7(TGFB1):c.653G>A (p.Arg218His)	rs104894720
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)	rs1943736070
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu)	rs1024923221
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)	rs587776937
NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val)	rs1555050174
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)	rs876661151
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)	rs869312868
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)	rs797044849
NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His)	rs1596476159
NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys)	rs1555434208
NM_000875.5(IGF1R):c.413G>A (p.Arg138Gln)	rs121912426
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	rs104894578
NM_000925.4(PDHB):c.96+12G>A	rs773433623
NM_000937.5(POLR2A):c.3275C>T (p.Ala1092Val)	rs2070664416
NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)	rs1727004803
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)	rs397518483
NM_000977.4(RPL13):c.548G>A (p.Arg183His)	rs1597676540
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs)	rs780114238
NM_001001548.3(CD36):c.660_664del (p.Asn220fs)	rs768699378
NM_001001548.3(CD36):c.660_669del (p.Asn220fs)	rs778808650
NM_001001548.3(CD36):c.787_808del (p.Val263fs)	rs754365623
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met)	rs1244226820
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)	rs104894164
NM_001002295.2(GATA3):c.1201_1202del (p.Met401fs)	rs1085307641
NM_001002295.2(GATA3):c.896G>A (p.Arg299Gln)	rs2131501118
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)	rs2125501418
NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg)	rs1057519011
NM_001003787.4(STRADA):c.992C>A (p.Thr331Asn)	rs539671529
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)	rs1587667544
NM_001005242.3(PKP2):c.962del (p.Val321fs)
NM_001005273.3(CHD3):c.2656C>T (p.His886Tyr)	rs2151569587
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp)	rs1555611722
NM_001005273.3(CHD3):c.3560G>A (p.Arg1187His)
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	rs121909095
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)	rs2073098775
NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp)	rs373046727
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)	rs2111857835
NM_001009944.3(PKD1):c.10167+25_10167+43del	rs1197421698
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)	rs1282668884
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)	rs1555444225
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	rs755496450
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)	rs1596566550
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)	rs1567191145
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)	rs1596527370
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)	rs1596527370
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)	rs1555449635
NM_001017995.3(SH3PXD2B):c.1615C>T (p.Arg539Trp)	rs199704139
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val)	rs199476306
NM_001022.4(RPS19):c.1A>G (p.Met1Val)	rs2123255913
NM_001025295.3(IFITM5):c.-14C>T	rs587776916
NM_001029896.2(WDR45):c.342-2A>G
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del)	rs1064793294
NM_001029896.2(WDR45):c.827+1G>T	rs1557083958
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	rs886041246
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)	rs796053381
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	rs1841141204
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)	rs587777310
NM_001033044.4(GLUL):c.-13-2A>G	rs2101936731
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)	rs1404214090
NM_001034853.2(RPGR):c.2403_2406del (p.Glu802fs)	rs2067183162
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)	rs730882261
NM_001034853.2(RPGR):c.2501del (p.Glu834fs)	rs2067178120
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)	rs1569236971
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs)	rs2067166789
NM_001034853.2(RPGR):c.2867del (p.Glu956fs)	rs2067146007
NM_001034853.2(RPGR):c.2993_2996del (p.Glu998fs)	rs1569235677
NM_001035.3(RYR2):c.14809G>C (p.Glu4937Gln)
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)	rs1131692231
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg)	rs549095193
NM_001039591.3(USP9X):c.7096C>T (p.Arg2366Ter)	rs2519412851
NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter)	rs1553569754
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	rs794727152
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)	rs796053138
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)	rs1702008435
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)	rs1060503101
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	rs796053162
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	rs2105403536
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)	rs1553567409
NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr)	rs1697360061
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)	rs1057520413
NM_001040716.2(PC):c.908del (p.Gly303fs)	rs2495743452
NM_001042424.3(NSD2):c.1348C>T (p.Arg450Ter)	rs2108805626
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)	rs386833731
NM_001042475.3(CEP85L):c.173G>A (p.Ser58Asn)	rs2115322699
NM_001042492.3(NF1):c.1038del (p.Gln347fs)	rs2143874352
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)	rs1131691118
NM_001042492.3(NF1):c.1260+1604A>G	rs1131691067
NM_001042492.3(NF1):c.1260+5G>C	rs1060500253
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro)	rs2143914353
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)	rs1555611581
NM_001042492.3(NF1):c.1527+4_1527+7del	rs1555612294
NM_001042492.3(NF1):c.1598T>A (p.Val533Asp)	rs1555612857
NM_001042492.3(NF1):c.1642-449A>G	rs863224655
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)	rs786204255
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg)	rs1567847681
NM_001042492.3(NF1):c.2326-2A>G	rs1555613975
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)	rs199474778
NM_001042492.3(NF1):c.2410-13A>G	rs1567848711
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg)	rs1060500368
NM_001042492.3(NF1):c.2877dup (p.Phe960fs)
NM_001042492.3(NF1):c.2947_2948del (p.Leu983fs)	rs1597716378
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	rs267606606
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs)	rs1597716817
NM_001042492.3(NF1):c.3317dup (p.Tyr1106Ter)
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)	rs199474732
NM_001042492.3(NF1):c.3827G>T (p.Arg1276Leu)	rs137854556
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)	rs1597722611
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)	rs199474789
NM_001042492.3(NF1):c.4520del (p.Leu1507fs)	rs2151464729
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)	rs2151470213
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)	rs1131691103
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)	rs771529172
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)	rs786202112
NM_001042492.3(NF1):c.5813-279A>G
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)	rs2069606635
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter)	rs2151554939
NM_001042492.3(NF1):c.6428-11T>G	rs2151555896
NM_001042492.3(NF1):c.6642+18A>G	rs1555534893
NM_001042492.3(NF1):c.6642G>T (p.Glu2214Asp)	rs876660207
NM_001042492.3(NF1):c.7830_7833del (p.Thr2611fs)
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	rs786201367
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)	rs1555608970
NM_001042492.3(NF1):c.819_821del (p.Leu274del)	rs2143786045
NM_001042492.3(NF1):c.888+789A>G	rs1597660974
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter)	rs2146029786
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)	rs1553154130
NM_001042681.2(RERE):c.452dup (p.Ala152fs)	rs1233062866
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001046.3(SLC12A2):c.2894C>A (p.Ser965Tyr)	rs529490835
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)	rs1057521250
NM_001069.3(TUBB2A):c.5G>A (p.Arg2His)	rs1581499166
NM_001070.5(TUBG1):c.1021C>T (p.Arg341Trp)	rs1057518249
NM_001070.5(TUBG1):c.1022G>A (p.Arg341Gln)	rs1555631467
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)	rs1199226176
NM_001079668.3(NKX2-1):c.464-9C>A	rs2139408360
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg)	rs1199433297
NM_001080.3(ALDH5A1):c.1343+1del	rs1561879386
NM_001080.3(ALDH5A1):c.517C>T (p.Arg173Cys)	rs759155182
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys)	rs777038090
NM_001080516.2(GRXCR2):c.88C>T (p.Arg30Ter)
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp)	rs1553621798
NM_001080517.3(SETD5):c.1709_1710del (p.Ser570fs)	rs1575467723
NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)	rs751310320
NM_001082971.2(DDC):c.1041+1G>A	rs1209062363
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)	rs776299562
NM_001083614.2(EARS2):c.1A>G (p.Met1Val)
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)	rs1193422410
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)	rs1555710726
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys)	rs2144406630
NM_001099922.3(ALG13):c.1842G>T (p.Arg614Ser)	rs1942117760
NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn)	rs2081012243
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)	rs886039472
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys)	rs1554329216
NM_001110792.2(MECP2):c.1149_1237del (p.His383fs)	rs2522047023
NM_001110792.2(MECP2):c.414-3C>G	rs267608465
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	rs61748390
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.62+2_62+3del	rs786205049
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)	rs61749715
NM_001110792.2(MECP2):c.784dup (p.Arg262fs)	rs61749752
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001112741.2(KCNC1):c.1273G>A (p.Val425Met)	rs1085307785
NM_001113378.2(FANCI):c.446del	rs2505910996
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)	rs1057518011
NM_001114753.3(ENG):c.-127C>T	rs1060501408
NM_001122769.3(LCA5):c.190+1G>A	rs746351112
NM_001126108.2(SLC12A3):c.1406C>T (p.Ala469Val)
NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter)	rs765609579
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	rs886037945
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)	rs1555736565
NM_001127392.3(MYRF):c.789del (p.Ser264fs)	rs769274302
NM_001127649.3(PEX26):c.228C>T (p.Gly76=)	rs786205556
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter)	rs151340624
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)	rs1049618423
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys)	rs1853920585
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)	rs748232676
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)	rs1554768992
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)	rs766016391
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)	rs397518468
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)	rs1445802934
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser)	rs1006328489
NM_001134407.3(GRIN2A):c.3250G>C (p.Asp1084His)	rs761296880
NM_001134407.3(GRIN2A):c.3602G>A (p.Ser1201Asn)	rs2141130589
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)	rs886039429
NM_001134831.2(AHI1):c.1760G>A (p.Trp587Ter)
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)	rs1786504555
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)	rs1176071790
NM_001135649.3(FOXI3):c.706C>T (p.Arg236Trp)	rs1675993398
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)	rs1582176424
NM_001142800.2(EYS):c.2641+1G>A	rs1768029728
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter)	rs2149856835
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs)	rs2149832523
NM_001142800.2(EYS):c.525_527del (p.Glu176del)	rs780433094
NM_001142800.2(EYS):c.5487dup (p.Glu1830fs)	rs2533149036
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	rs751629543
NM_001142800.2(EYS):c.8150dup (p.Thr2718fs)	rs1251637752
NM_001142800.2(EYS):c.8243dup (p.Leu2748fs)	rs1240944758
NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro)	rs1186771860
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)	rs771640639
NM_001142800.2(EYS):c.984del (p.Asn328fs)	rs1766679809
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)	rs2542982542
NM_001148.6(ANK2):c.2662C>T (p.Arg888Ter)	rs867072234
NM_001148.6(ANK2):c.2968C>T (p.Arg990Ter)	rs1554508985
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)	rs122458144
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	rs121434308
NM_001163435.3(TBCK):c.2025del (p.Phe675fs)	rs749437743
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)	rs1432360280
NM_001164508.2(NEB):c.20158-6A>G	rs1553715636
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	rs202048855
NM_001164508.2(NEB):c.3255+1G>C	rs375628303
NM_001164508.2(NEB):c.6075+1G>A	rs1553472127
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)	rs794726799
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)	rs397514459
NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro)	rs121917971
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr)	rs1057518325
NM_001165963.4(SCN1A):c.4267C>T (p.Leu1423Phe)
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)	rs121918741
NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)	rs1553520199
NM_001165963.4(SCN1A):c.602+1G>A	rs794726827
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)	rs1602544454
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser)	rs2148090201
NM_001170535.3(ATAD3A):c.1588A>G (p.Ile530Val)	rs766623034
NM_001170535.3(ATAD3A):c.980G>C (p.Arg327Pro)	rs200238845
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter)	rs1555314211
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)	rs1057518190
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)	rs764109067
NM_001177316.2(SLC34A3):c.925+20_926-48del	rs1554784044
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr)	rs886059849
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys)	rs878853277
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)	rs796052811
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp)	rs104894780
NM_001197104.2(KMT2A):c.9910_9911del (p.Leu3304fs)	rs886041834
NM_001199198.3(TBC1D23):c.614_615del (p.Phe205fs)	rs2148861371
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)	rs748847284
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	rs886039323
NM_001206427.2(ATP5MK):c.-9-1G>T
NM_001206427.2(ATP5MK):c.87+1G>A
NM_001206744.2(TPO):c.*63dup	rs749486726
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	rs1554389088
NM_001242896.3(DEPDC5):c.1287+1G>A	rs2518976938
NM_001243279.3(ACSF3):c.1491del (p.Ser498fs)	rs1217487621
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)	rs1553638086
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)	rs1131690804
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)	rs1064793161
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)	rs778390089
NM_001256627.2(BRSK2):c.937C>T (p.Arg313Ter)	rs2133120033
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)	rs2065880189
NM_001267550.2(TTN):c.11254+1G>C
NM_001267550.2(TTN):c.45966G>A (p.Trp15322Ter)
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	rs397517689
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)	rs886038916
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)	rs1131691515
NM_001273.5(CHD4):c.3017T>G (p.Val1006Gly)	rs2540396625
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)	rs74315380
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	rs45578238
NM_001278689.2(EOGT):c.1074del (p.Gly359fs)	rs587776994
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)	rs398123060
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	rs886041116
NM_001282531.3(ADNP):c.3213_3216del (p.Ser1071fs)	rs1568701332
NM_001283009.2(RTEL1):c.2141+5G>A	rs398123050
NM_001286704.2(UFM1):c.-273_-271del	rs747359907
NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter)	rs2148193855
NM_001291867.2(NHS):c.3916del (p.Ala1306fs)
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys)	rs1558820134
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)	rs1275489527
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)	rs886037934
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)	rs864309503
NM_001312673.2(PCYT1A):c.669G>C (p.Arg223Ser)	rs540053239
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs)	rs587777193
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)	rs587777011
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)	rs121917834
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)	rs1567203083
NM_001318852.2(MAPK8IP3):c.2221T>C (p.Cys741Arg)	rs1417684145
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)	rs1567214097
NM_001318895.3(FHL2):c.391C>T (p.Arg131Cys)	rs397517959
NM_001320.7(CSNK2B):c.292-2A>G	rs1802000298
NM_001320.7(CSNK2B):c.325T>C (p.Cys109Arg)	rs2536966124
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg)	rs1802055133
NM_001320.7(CSNK2B):c.569T>C (p.Phe190Ser)	rs2536970927
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)	rs1227093654
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter)	rs1567528092
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp)	rs2147144038
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)	rs267608501
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg)	rs786204963
NM_001329556.3(REEP6):c.598+1G>A	rs751330788
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)	rs587780586
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)	rs1057524820
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser)	rs1057524820
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)	rs796053216
NM_001330260.2(SCN8A):c.5046C>G (p.Ile1682Met)
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455
NM_001330700.2(TOP2B):c.1912G>A (p.Gly638Ser)	rs2125373730
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)	rs1064796367
NM_001347721.2(DYRK1A):c.638-1G>T	rs2148612254
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)	rs780441716
NM_001347721.2(DYRK1A):c.924+4_924+7del	rs1555984461
NM_001349206.2(LPIN1):c.2621+1G>A
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)	rs797045586
NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg)	rs2036511353
NM_001349338.3(FOXP1):c.1652+5G>A	rs794727216
NM_001353345.2(SETD1B):c.22dup (p.His8fs)	rs777278685
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del)	rs1555953527
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys)	rs1555953548
NM_001358530.2(MOCS1):c.1275del (p.Gly426fs)	rs1562083594
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)	rs773134475
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	rs121909764
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs)	rs200592893
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)	rs181461079
NM_001363711.2(DUOX2):c.3475CTG[1] (p.Leu1160del)	rs758318135
NM_001364171.2(ODAD1):c.813_816dup (p.Pro273fs)	rs1294704273
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)	rs1264504989
NM_001365088.1(SLC12A6):c.1728CTT[1] (p.Phe578del)	rs2509782899
NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)	rs1416593064
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	rs1564493599
NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp)	rs747830413
NM_001367561.1(DOCK7):c.4384A>G (p.Arg1462Gly)	rs763342949
NM_001367721.1(CASK):c.764G>A (p.Arg255His)	rs587783369
NM_001367873.1(SOX6):c.1519C>T (p.Arg507Ter)	rs2494128054
NM_001368894.2(PAX6):c.10+5G>C	rs587776572
NM_001369.3(DNAH5):c.11028+2T>C	rs773447251
NM_001369268.1(ACAN):c.7255G>A (p.Asp2419Asn)	rs121913568
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)	rs797044854
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro)	rs1941794175
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)	rs80338686
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr)	rs756204684
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)	rs2534642231
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter)	rs1165205177
NM_001372.4(DNAH9):c.308del (p.Phe103fs)	rs769795916
NM_001372.4(DNAH9):c.308dup (p.Leu104fs)	rs769795916
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)	rs151344531
NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=)	rs748310345
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)	rs2128463445
NM_001374828.1(ARID1B):c.5264-2A>G	rs1794274425
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)	rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)	rs797045282
NM_001374828.1(ARID1B):c.6608_6609del (p.Arg2203fs)	rs1794549840
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp)	rs1057519092
NM_001375524.1(TRRAP):c.3104G>A (p.Arg1035Gln)	rs2116495143
NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp)	rs757725348
NM_001376.5(DYNC1H1):c.1103G>A (p.Arg368Gln)	rs2141272334
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)	rs1057518083
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)	rs879253979
NM_001377.3(DYNC2H1):c.2T>C (p.Met1Thr)	rs2134667452
NM_001377.3(DYNC2H1):c.5643_5646del (p.Arg1881fs)	rs2497158423
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn)	rs1568763104
NM_001378120.1(MBD5):c.3595C>T (p.Leu1199=)	rs2105093530
NM_001378418.1(TCF20):c.2518C>G (p.Pro840Ala)	rs1921140611
NM_001378452.1(ITPR1):c.824C>T (p.Ala275Val)
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)	rs771459937
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)	rs754134498
NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)	rs397515478
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)	rs786205867
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys)	rs777183510
NM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser)	rs2071570215
NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter)	rs1936845711
NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg)	rs767090801
NM_001382391.1(CSPP1):c.1187+1G>A	rs2488871242
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)	rs777686211
NM_001385012.1(NBEA):c.2924A>G (p.Lys975Arg)	rs2503622228
NM_001394998.1(TANC2):c.5519G>A (p.Ser1840Asn)	rs2147427904
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)	rs132630313
NM_001429.3(EP300):c.3857A>G	rs1555910821
NM_001429.4(EP300):c.1282+1G>A	rs2145713819
NM_001429.4(EP300):c.3671+1G>A	rs2059103511
NM_001451.3(FOXF1):c.256C>T (p.Arg86Trp)	rs2507450474
NM_001453.3(FOXC1):c.821dup (p.Ser276fs)	rs2113112720
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser)	rs80356504
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	rs1562998062
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)	rs387906587
NM_001470.4(GABBR1):c.665C>T (p.Pro222Leu)
NM_001558.4(IL10RA):c.301C>T (p.Arg101Trp)	rs368287711
NM_001561.6(TNFRSF9):c.325G>A (p.Gly109Ser)	rs2527270851
NM_001563.4(IMPG1):c.1736T>C (p.Leu579Pro)	rs1782008883
NM_001605.3(AARS1):c.986G>A (p.Arg329His)	rs267606621
NM_001611.5(ACP5):c.772_790del (p.Ser258fs)	rs878853218
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)	rs1568060200
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His)	rs1555666392
NM_001615.4(ACTG2):c.588G>C (p.Glu196Asp)	rs140943831
NM_001673.5(ASNS):c.97C>T (p.Arg33Cys)	rs759224338
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)	rs781969081
NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln)	rs1680670309
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)	rs587777620
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)	rs797044916
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn)	rs144716013
NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys)	rs1602157389
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp)	rs1924842665
NM_001844.5(COL2A1):c.1286G>A (p.Gly429Asp)	rs2540151727
NM_001844.5(COL2A1):c.1480C>T (p.Arg494Cys)	rs1353156898
NM_001844.5(COL2A1):c.1527+135G>A	rs1592218346
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)	rs1939189846
NM_001844.5(COL2A1):c.2453G>T (p.Arg818Leu)	rs376834551
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)	rs367806541
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)	rs751205887
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	rs121912870
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)	rs1878248687
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)	rs672601347
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg)	rs797045034
NM_001848.3(COL6A1):c.1056+1G>A	rs398123631
NM_001848.3(COL6A1):c.1056+5G>A	rs886044511
NM_001848.3(COL6A1):c.1576-2_1576-1del	rs1569518725
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)	rs121912938
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	rs121912939
NM_001849.4(COL6A2):c.1817-2A>C	rs111697581
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr)	rs1553518389
NM_001875.5(CPS1):c.4161G>A (p.Lys1387=)	rs200616712
NM_001876.4(CPT1A):c.693+1G>A	rs1055176086
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)	rs1217050849
NM_001918.5(DBT):c.881T>G (p.Leu294Ter)	rs2524147444
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)	rs786205866
NM_001987.5(ETV6):c.1196G>A (p.Arg399His)	rs2136602321
NM_001999.4(FBN2):c.3973+5G>A
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)	rs578184315
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)	rs1303447354
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)	rs797044569
NM_002069.6(GNAI1):c.362C>T (p.Ala121Val)	rs2484433537
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786
NM_002076.4(GNS):c.926G>A (p.Arg309Lys)	rs750944174
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)	rs571142182
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)	rs756985703
NM_002180.3(IGHMBP2):c.449+1G>T	rs797044802
NM_002181.4(IHH):c.518C>A (p.Ala173Asp)	rs2469514140
NM_002225.5(IVD):c.127dup (p.Ser43fs)	rs2542620925
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)	rs104893637
NM_002437.5(MPV17):c.280-1dup	rs766160589
NM_002437.5(MPV17):c.451dup (p.Leu151fs)	rs267607267
NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys)	rs564856283
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)	rs80338828
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	rs121913657
NM_002473.6(MYH9):c.3195_3215del (p.Gln1068_Leu1074del)	rs876661302
NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)	rs2509777083
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr)	rs730880965
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	rs121434596
NM_002529.4(NTRK1):c.2046dup (p.Val683fs)	rs2102925337
NM_002615.7(SERPINF1):c.77del (p.Pro26fs)	rs1272920425
NM_002693.3(POLG):c.264C>G (p.Phe88Leu)	rs144439703
NM_002693.3(POLG):c.3104+2_3104+5del	rs761664802
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)	rs796052913
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg)	rs148280386
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	rs80338732
NM_002805.6(PSMC5):c.959C>G (p.Pro320Arg)
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)	rs2540425440
NM_002863.5(PYGL):c.1518G>A (p.Glu506=)	rs748519147
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002880.4(RAF1):c.788T>C (p.Val263Ala)	rs397516830
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs)	rs756235051
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)	rs876658461
NM_003011.4(SET):c.130_133del (p.Arg44fs)	rs1554776342
NM_003011.4(SET):c.313C>T (p.His105Tyr)	rs1564360978
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)	rs2470210229
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His)	rs1057517666
NM_003070.5(SMARCA2):c.221A>G (p.His74Arg)	rs2537193288
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys)	rs1057518414
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)	rs281875227
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)	rs1060499936
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)	rs770014321
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)	rs1600388982
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)	rs797045989
NM_003091.4(SNRPB):c.155+301G>C	rs786201019
NM_003094.4(SNRPE):c.1A>G (p.Met1Val)	rs587776924
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)	rs760818649
NM_003119.4(SPG7):c.1450-1_1457del	rs768823392
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)	rs769258044
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)	rs372180825
NM_003128.3(SPTBN1):c.474+1G>T
NM_003153.5(STAT6):c.1255G>C (p.Asp419His)	rs11172102
NM_003172.4(SURF1):c.324-11T>G	rs375398247
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	rs767004810
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)	rs1553303213
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)	rs1553303352
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)	rs796051885
NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)	rs2470562867
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del)	rs199474801
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)	rs797046046
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)	rs751589956
NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr)	rs2507391033
NM_003361.4(UMOD):c.200A>G (p.Asp67Gly)	rs2507390910
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)	rs398123697
NM_003477.3(PDHX):c.557del (p.Pro186fs)	rs2494708862
NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)	rs2120453584
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp)	rs1943085639
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)	rs398123724
NM_003482.4(KMT2D):c.15460C>T (p.Arg5154Trp)	rs768551828
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln)	rs1565756106
NM_003482.4(KMT2D):c.16118A>G (p.Asn5373Ser)
NM_003482.4(KMT2D):c.16338+1G>T	rs1555184782
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter)	rs886041398
NM_003482.4(KMT2D):c.1967del (p.Leu656fs)	rs772870804
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter)	rs587783727
NM_003482.4(KMT2D):c.858dup (p.Lys287Ter)	rs1592159924
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter)	rs793888512
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)	rs587780563
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)	rs727503909
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp)	rs1235695530
NM_003560.4(PLA2G6):c.2218G>A (p.Gly740Arg)
NM_003590.5(CUL3):c.1377+1G>A	rs199469660
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)	rs2513965447
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter)	rs1746480237
NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln)	rs886037851
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	rs1057519632
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)	rs1005618432
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)	rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His)	rs121908840
NM_003742.4(ABCB11):c.1405C>T (p.Gln469Ter)	rs2105967973
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	rs1382100120
NM_003797.5(EED):c.581A>G (p.Asn194Ser)	rs1945710855
NM_003849.4(SUCLG1):c.137C>T (p.Ser46Phe)	rs1287269389
NM_003850.3(SUCLA2):c.370T>C (p.Ser124Pro)	rs2137743400
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)	rs587777116
NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile)	rs1025829736
NM_003982.4(SLC7A7):c.1034C>G (p.Pro345Arg)
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)	rs386833823
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	rs750188782
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	rs756484720
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)	rs1602169535
NM_004006.3(DMD):c.3603G>A (p.Lys1201=)	rs1265370991
NM_004006.3(DMD):c.7309+1G>C	rs398124044
NM_004006.3(DMD):c.7310-19A>G	rs2530844412
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)	rs1412572728
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)	rs1577059692
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp)	rs1064795235
NM_004082.5(DCTN1):c.279+1G>T	rs1393363759
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)	rs587776497
NM_004113.6(FGF12):c.155G>A (p.Arg52His)	rs886039903
NM_004153.4(ORC1):c.961C>T (p.Arg321Ter)	rs367611068
NM_004181.5(UCHL1):c.145CTG[5] (p.Leu52_Phe53insLeu)	rs749368841
NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del)	rs775979290
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)	rs372989281
NM_004183.4(BEST1):c.879G>C (p.Gln293His)	rs2134453127
NM_004211.5(SLC6A5):c.679+1G>A	rs1590154255
NM_004273.5(CHST3):c.533dup (p.Ala179fs)	rs769540174
NM_004333.6(BRAF):c.1722C>G (p.His574Gln)	rs397507481
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	rs794729219
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	rs180177042
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys)	rs2129044284
NM_004373.4(COX6A1):c.247-7_247-3del	rs587777783
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)	rs387906618
NM_004446.3(EPRS1):c.2747G>A (p.Arg916Gln)	rs761131320
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)	rs2479121069
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)	rs1561251388
NM_004453.4(ETFDH):c.405+1G>T	rs2150305321
NM_004456.5(EZH2):c.386A>G (p.His129Arg)	rs2129477011
NM_004463.3(FGD1):c.1906C>T (p.Arg636Trp)	rs759075971
NM_004463.3(FGD1):c.527dup (p.Leu177fs)	rs756586058
NM_004465.2(FGF10):c.577C>T (p.Arg193Ter)	rs104893884
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)	rs118192251
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs)	rs1844907904
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)	rs2492536872
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	rs2051507892
NM_004539.4(NARS1):c.616G>A (p.Glu206Lys)	rs780489988
NM_004612.4(TGFBR1):c.343+1G>C
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	rs111854391
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile)	rs1591517921
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)	rs869025541
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	rs1559369237
NM_004629.2(FANCG):c.552dup (p.Ser185fs)	rs1412207017
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)	rs386833903
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)	rs386833947
NM_004826.4(ECEL1):c.80del (p.Gly27fs)	rs1370507095
NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr)	rs2509144215
NM_004927.4(MRPL49):c.262C>T (p.Arg88Cys)
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)	rs140451304
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)	rs771552404
NM_004937.3(CTNS):c.323del (p.Gln108fs)	rs879255615
NM_004937.3(CTNS):c.768dup (p.Val257fs)	rs1567713938
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)	rs886041761
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys)	rs2140159368
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	rs121913535
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005050.4(ABCD4):c.1753-12G>A	rs930102975
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	rs1379395211
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	rs1057523906
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)	rs387907360
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)	rs863223696
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)	rs1556334519
NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)	rs1060499547
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile)	rs121913459
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn)	rs727504399
NM_005188.4(CBL):c.1228-2A>G	rs727504426
NM_005199.5(CHRNG):c.240+1del	rs777809198
NM_005199.5(CHRNG):c.350+2T>C
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)	rs1553657429
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr)	rs1881803464
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe)	rs1555321334
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter)	rs104894516
NM_005253.4(FOSL2):c.619C>T (p.Gln207Ter)	rs2465329674
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn)	rs864309703
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)	rs2133788907
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu)	rs2133788907
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)	rs121909737
NM_005321.3(H1-4):c.429_430del (p.Ala144fs)	rs1131690805
NM_005321.3(H1-4):c.430dup (p.Ala144fs)	rs1131690805
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg)	rs2143629984
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)	rs769215411
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser)	rs121908411
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)	rs372079931
NM_005530.3(IDH3A):c.364G>A (p.Ala122Thr)	rs756333430
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)	rs760571406
NM_005591.4(MRE11):c.1927-2A>G	rs587781822
NM_005609.4(PYGM):c.580del (p.Arg194fs)	rs2496668596
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu)	rs1160275875
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	rs397517150
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe)	rs574088829
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu)	rs1565962725
NM_005797.4(MPZL2):c.68del (p.Pro23fs)	rs1167608859
NM_005859.5(PURA):c.596G>C (p.Arg199Pro)	rs587783001
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)	rs786204835
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)	rs1376334317
NM_005869.4(CWC27):c.756del (p.Gly253fs)	rs2112207891
NM_005908.4(MANBA):c.2356A>G (p.Asn786Asp)	rs111353791
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)	rs1057517991
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)	rs1056919085
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)	rs797044960
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)	rs387906930
NM_006005.3(WFS1):c.409_424dup (p.Val142fs)	rs1362648752
NM_006009.4(TUBA1A):c.509C>G (p.Ser170Cys)	rs2498861047
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	rs1057517843
NM_006017.3(PROM1):c.2131-1G>A	rs1577845276
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)	rs1554995341
NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys)	rs1595472764
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)	rs587784505
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)	rs864321716
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys)	rs1057521924
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His)	rs886041021
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)	rs587777428
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu)	rs587777429
NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr)	rs761635539
NM_006087.4(TUBB4A):c.736C>G (p.Leu246Val)	rs2145244734
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His)	rs886039470
NM_006129.5(BMP1):c.747C>G (p.Phe249Leu)	rs398122891
NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter)	rs2117256073
NM_006178.4(NSF):c.1600A>G (p.Thr534Ala)
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)	rs886041091
NM_006180.6(NTRK2):c.1651C>T (p.Arg551Ter)	rs2132718410
NM_006182.4(DDR2):c.2254C>T (p.Arg752Cys)	rs121964863
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)	rs1410436651
NM_006204.4(PDE6C):c.2053del (p.Gln685fs)	rs2492563607
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	rs121913272
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr)	rs1724674149
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	rs104886003
NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly)	rs2108424902
NM_006236.3(POU3F3):c.1220G>T (p.Arg407Leu)	rs1573320988
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn)	rs1762178916
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)	rs387906702
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)	rs2075652085
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)	rs1556887759
NM_006348.5(COG5):c.2295+2T>C
NM_006364.4(SEC23A):c.1795G>A (p.Glu599Lys)	rs2139193533
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)	rs1064794325
NM_006494.4(ERF):c.891_892del (p.Gly299fs)	rs587777007
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)	rs587784390
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)	rs587784384
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)	rs2064742925
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)	rs2470938044
NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter)	rs886037964
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)	rs1567610917
NM_006565.4(CTCF):c.2139C>A (p.Asn713Lys)	rs146712579
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser)	rs746746116
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	rs869312704
NM_006593.4(TBR1):c.358C>T (p.Pro120Ser)	rs1559059936
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)	rs770084716
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter)	rs1555465891
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter)	rs587784444
NM_006734.4(HIVEP2):c.272C>T (p.Pro91Leu)	rs2482857854
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)	rs869312841
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)	rs1064794000
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)	rs200651017
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)	rs1554688879
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)	rs747430075
NM_006772.3(SYNGAP1):c.1474A>G (p.Lys492Glu)	rs1554121344
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)	rs1064795331
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)	rs1057519546
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)	rs1554121206
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter)	rs140609531
NM_006796.3(AFG3L2):c.1010G>A (p.Gly337Glu)	rs1908566777
NM_006846.4(SPINK5):c.1431-12G>A	rs368134354
NM_006846.4(SPINK5):c.715dup (p.Cys239fs)	rs773514258
NM_006852.6(TLK2):c.1550+1G>A	rs2147105351
NM_006852.6(TLK2):c.364C>T (p.Arg122Ter)	rs1567870541
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs)	rs1560674852
NM_006908.5(RAC1):c.190T>G (p.Tyr64Asp)	rs1554263626
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys)	rs2115201389
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala)	rs1557962699
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	rs869025195
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)	rs1442986615
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_006940.6(SOX5):c.1771G>A (p.Gly591Arg)
NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter)	rs1555937400
NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa)	rs397515368
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)	rs1941669517
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)	rs1554986337
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_007055.4(POLR3A):c.1771-6C>G	rs115020338
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)	rs879255626
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)	rs1747669042
NM_007129.5(ZIC2):c.800G>A (p.Ser267Asn)	rs2501544777
NM_007192.4(SUPT16H):c.2200C>T (p.Arg734Trp)	rs2139399670
NM_007279.3(U2AF2):c.448C>T (p.Arg150Cys)	rs2123678139
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)	rs80358343
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln)	rs1554770044
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val)	rs2131299136
NM_007327.4(GRIN1):c.1921A>T (p.Met641Leu)	rs2131299136
NM_007327.4(GRIN1):c.2381G>T (p.Arg794Leu)
NM_012154.5(AGO2):c.1810G>A (p.Gly604Arg)	rs1564077207
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs)	rs80358295
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs)	rs80358303
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	rs180177321
NM_012281.3(KCND2):c.1210G>A (p.Val404Met)	rs587777631
NM_012309.5(SHANK2):c.2439+1G>A	rs2058899044
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)	rs749201074
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	rs886039734
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)	rs1597461100
NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)	rs1294714307
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter)	rs1364690005
NM_013275.6(ANKRD11):c.4107_4108del (p.Lys1370fs)	rs2544234255
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs)	rs2151750068
NM_013275.6(ANKRD11):c.601+11_601+37del	rs2544304935
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs)	rs1555525296
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	rs2033536147
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)	rs2033535934
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)	rs2151701893
NM_013275.6(ANKRD11):c.7754G>A (p.Arg2585His)	rs1567537296
NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp)	rs1597389370
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu)	rs773715630
NM_013382.7(POMT2):c.1786-2A>T	rs1257697617
NM_013435.3(RAX):c.543+3A>G	rs2511488169
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)	rs527236113
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)	rs1554617580
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs)	rs1794916576
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)	rs766777011
NM_014168.4(METTL5):c.541+1G>C	rs1467526653
NM_014225.6(PPP2R1A):c.539T>C (p.Met180Thr)	rs1600167941
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)	rs1555791268
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)	rs863225094
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)	rs1555454566
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)	rs202247803
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys)	rs864309720
NM_014362.4(HIBCH):c.439-2A>G	rs1180861300
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)	rs747868017
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)	rs765361868
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup)	rs2137584629
NM_014423.4(AFF4):c.773G>A (p.Arg258Gln)	rs2150098310
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)	rs1673582111
NM_014516.4(CNOT3):c.311G>A (p.Ser104Asn)	rs2517346791
NM_014516.4(CNOT3):c.732dup (p.Ser245fs)	rs753475896
NM_014625.4(NPHS2):c.167del (p.Glu56fs)	rs1558355124
NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu)	rs869025495
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)	rs528833893
NM_014704.4(CEP104):c.1144C>G (p.Arg382Gly)	rs374824835
NM_014704.4(CEP104):c.2246A>C (p.Tyr749Ser)	rs533659013
NM_014714.4(IFT140):c.2767_2768+2del	rs769075694
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln)	rs1555731980
NM_014727.3(KMT2B):c.5342T>C (p.Leu1781Pro)	rs1555732094
NM_014795.4(ZEB2):c.3353C>T (p.Pro1118Leu)	rs780004720
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)	rs80338867
NM_014874.4(MFN2):c.839G>A (p.Arg280His)	rs28940294
NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)	rs2519358174
NM_014946.4(SPAST):c.1210_1212del (p.Phe404del)	rs1679265391
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)	rs2148753950
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)	rs1553318223
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)	rs864622162
NM_014946.4(SPAST):c.1634C>T (p.Ser545Leu)	rs869312949
NM_014946.4(SPAST):c.1728+2T>G	rs1553319874
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)	rs746263735
NM_014946.4(SPAST):c.982dup (p.Ile328fs)	rs2465838759
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	rs2071226510
NM_015021.3(ZNF292):c.6145dup (p.Ser2049fs)	rs764995318
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	rs869320764
NM_015154.3(MESD):c.631_632del (p.Lys211fs)	rs745891632
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)	rs281875317
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln)	rs768711345
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	rs281875313
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)	rs1057519643
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)	rs2499932052
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)	rs1592940794
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)	rs1555246145
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter)	rs1569337452
NM_015443.4(KANSL1):c.2542-1G>A	rs111514883
NM_015474.4(SAMHD1):c.1062+1G>T
NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)	rs2484682116
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])	rs1789934246
NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp)	rs515726181
NM_015915.5(ATL1):c.461A>G (p.Gln154Arg)	rs1060502971
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)	rs119476046
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)	rs748735420
NM_016032.4(ZDHHC9):c.544C>T (p.Arg182Cys)	rs2124105703
NM_016138.5(COQ7):c.15_25del (p.Ala6fs)	rs2509307905
NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu)	rs3733808
NM_016188.5(ACTL6B):c.1027G>T (p.Gly343Trp)	rs1131692228
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg)	rs2131330754
NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter)	rs1584468891
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)	rs760069953
NM_016239.4(MYO15A):c.900del (p.Pro301fs)	rs2142242418
NM_016373.4(WWOX):c.107+1G>A	rs1300924648
NM_016373.4(WWOX):c.716T>G (p.Leu239Arg)	rs2083042603
NM_016628.5(WAC):c.1864C>T (p.Arg622Ter)	rs774496658
NM_016628.5(WAC):c.302C>G (p.Ser101Ter)
NM_016648.4(LARP7):c.297_303+2del	rs2149262033
NM_017534.6(MYH2):c.2530_2532delinsAAGAGTGCAGAAA (p.Pro844fs)	rs2508437853
NM_017644.3(KLHL24):c.307C>T (p.Arg103Ter)
NM_017654.4(SAMD9):c.2414A>G (p.Asp805Gly)	rs2535358325
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	rs267606962
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	rs754279998
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)	rs886040985
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)	rs1563644066
NM_017780.4(CHD7):c.5210+3A>G	rs1554602588
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg)	rs1563656016
NM_017780.4(CHD7):c.7164+1G>A	rs2129644267
NM_017780.4(CHD7):c.8077-2A>G	rs1806173195
NM_017791.3(FLVCR2):c.52dup (p.Glu18fs)	rs2504063396
NM_017827.4(SARS2):c.1169A>G (p.Asp390Gly)	rs727502784
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	rs768422260
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter)	rs2127741566
NM_017934.7(PHIP):c.1541A>G (p.His514Arg)	rs2482078406
NM_017951.5(SMPD4):c.784_785del (p.Leu262fs)	rs2467253753
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226
NM_018116.4(MSTO1):c.1259del (p.Gly420fs)	rs1248439783
NM_018133.4(MSL2):c.796_797del (p.Leu266fs)	rs2529547139
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)	rs199422147
NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter)	rs774143329
NM_018191.4(RCBTB1):c.707del (p.Asn236fs)	rs777630688
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly)	rs1558108130
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)	rs1589611043
NM_018418.5(SPATA7):c.20_23delTCAG	rs527236050
NM_018486.3(HDAC8):c.111+6G>A	rs2147618314
NM_018489.3(ASH1L):c.4039_4043del (p.Lys1347fs)
NM_018676.4(THSD1):c.1561C>T (p.Gln521Ter)	rs2547596958
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln)	rs879255235
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr)	rs770740586
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)	rs1808862287
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter)	rs768844200
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)	rs748993388
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	rs886039763
NM_020070.4(IGLL1):c.258del (p.Gln88fs)	rs532338576
NM_020320.5(RARS2):c.1A>G (p.Met1Val)	rs774923951
NM_020320.5(RARS2):c.2T>G (p.Met1Arg)	rs199862050
NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr)	rs864321633
NM_020433.5(JPH2):c.505G>A (p.Glu169Lys)	rs2072600840
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs)	rs757636489
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del)	rs750942168
NM_020549.5(CHAT):c.916G>C (p.Val306Leu)	rs551219437
NM_020631.6(PLEKHG5):c.1132-2A>C	rs1557742277
NM_020632.3(ATP6V0A4):c.977G>A (p.Trp326Ter)
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)	rs769399833
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)	rs761820222
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1])	rs1398218251
NM_020719.3(PRR12):c.3625C>T (p.Arg1209Ter)	rs2122304074
NM_020778.5(ALPK3):c.663_664delinsG (p.Phe221fs)
NM_020791.4(TAOK1):c.1414C>T (p.Arg472Ter)	rs2508268872
NM_020806.5(GPHN):c.127G>A (p.Val43Ile)	rs117256383
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)	rs755184077
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)	rs886043455
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp)	rs1831067002
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)	rs1574787779
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter)	rs1554041295
NM_020975.6(RET):c.95C>T (p.Ser32Leu)	rs76764689
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup)	rs780808943
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)	rs111033573
NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	rs137853883
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)	rs150382575
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)	rs1060499790
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)	rs797044436
NM_022356.4(P3H1):c.916del (p.Tyr306fs)	rs2124140276
NM_022455.5(NSD1):c.4378+3_4378+6del	rs1562251194
NM_022455.5(NSD1):c.5375G>A (p.Gly1792Glu)	rs587784143
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)	rs587784190
NM_022489.4(INF2):c.529C>T (p.Arg177Cys)	rs1595166085
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)	rs1554162016
NM_022786.3(ARV1):c.518dup (p.Pro174fs)	rs544784472
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala)	rs986437232
NM_023110.3(FGFR1):c.1977+1G>A	rs876661334
NM_023110.3(FGFR1):c.748C>T (p.Arg250Trp)	rs2150826896
NM_024105.4(ALG12):c.1001del (p.Asn334fs)	rs759244819
NM_024105.4(ALG12):c.424T>G (p.Phe142Val)	rs28942090
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)	rs2076017638
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)	rs28937905
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)	rs121918217
NM_024312.5(GNPTAB):c.1409-2A>G	rs1953092495
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)	rs771237928
NM_024426.6(WT1):c.1447+4C>T	rs587776577
NM_024496.4(IRF2BPL):c.1489C>T (p.Gln497Ter)	rs2140377628
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter)	rs1566786613
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)	rs74555752
NM_024577.4(SH3TC2):c.3676-8G>A	rs772823083
NM_024664.4(PPCS):c.698A>T (p.Glu233Val)	rs1557778277
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)	rs1577029680
NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala)	rs2108437312
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)	rs1555202700
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	rs786204671
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=)	rs2132793967
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln)	rs1057519347
NM_024926.4(IFT56):c.788A>G (p.Asn263Ser)	rs1794039778
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)	rs587777378
NM_025009.5(CEP135):c.3129_3132del (p.Lys1043fs)	rs2475390980
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	rs1592833648
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)	rs281865189
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)	rs312262737
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)	rs312262781
NM_025137.4(SPG11):c.6754+2_6754+3dup	rs759090170
NM_025137.4(SPG11):c.6999+1G>A	rs1191614292
NM_025216.3(WNT10A):c.1124T>C (p.Met375Thr)	rs773598047
NM_030632.3(ASXL3):c.2160dup (p.Asp721Ter)	rs2145414972
NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs)	rs1555744178
NM_030954.4(RNF170):c.304T>C (p.Cys102Arg)	rs1183403793
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)	rs1554700678
NM_031263.4(HNRNPK):c.886C>T (p.Arg296Ter)	rs2491969421
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)	rs886041876
NM_031418.4(ANO3):c.1943A>G (p.Asn648Ser)	rs1590658782
NM_031443.4(CCM2):c.472+1G>C	rs745710633
NM_031448.6(C19orf12):c.161-2del	rs1352744778
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)	rs515726204
NM_031448.6(C19orf12):c.371dup (p.Met124fs)	rs1568326754
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)	rs779453109
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_032271.3(TRAF7):c.1112G>A (p.Arg371Gln)	rs1567252663
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)	rs1331463984
NM_032444.4(SLX4):c.3601C>T (p.Gln1201Ter)
NM_032581.4(HYCC1):c.414+1G>T	rs72549406
NM_032581.4(HYCC1):c.722T>G (p.Leu241Ter)	rs2128200575
NM_032603.5(LOXL3):c.754del (p.Glu252fs)	rs1231646114
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)	rs556752387
NM_032635.4(TMEM147):c.398T>A (p.Ile133Asn)	rs371795896
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)	rs797044995
NM_032861.4(SERAC1):c.1167_1170del	rs772296795
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)	rs2066342176
NM_033380.3(COL4A5):c.1588-10C>G	rs1603290097
NM_033380.3(COL4A5):c.1808G>A (p.Gly603Asp)	rs104886133
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu)	rs104886163
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val)	rs281874709
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)	rs104886210
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu)	rs1603298993
NM_033380.3(COL4A5):c.3686G>A (p.Gly1229Asp)	rs104886253
NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr)	rs1569508382
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)	rs281874743
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp)	rs2147759208
NM_033380.3(COL4A5):c.548G>A (p.Gly183Asp)	rs104886059
NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp)	rs104886082
NM_033419.5(PGAP3):c.557G>C (p.Arg186Thr)	rs2145100763
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	rs79318303
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)	rs1555274496
NM_052867.4(NALCN):c.1639A>G (p.Met547Val)	rs1057519432
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val)	rs1555381108
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr)	rs2139519168
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer)	rs1594759803
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)	rs1060505041
NM_054012.4(ASS1):c.1128-6_1188dup	rs1554725677
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs)	rs1380822792
NM_057175.5(NAA15):c.1645C>T (p.Arg549Ter)	rs1179904078
NM_057175.5(NAA15):c.231dup (p.Lys78fs)	rs757423402
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)	rs886041401
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)	rs397514662
NM_078480.3(PUF60):c.1489ATC[1] (p.Ile498del)	rs1064794916
NM_078480.3(PUF60):c.612_630del (p.Asn207fs)	rs1816565452
NM_130837.3(OPA1):c.1035+5G>A	rs754576717
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)	rs121918264
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)	rs80358380
NM_133433.4(NIPBL):c.6463G>T (p.Asp2155Tyr)
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)	rs587784024
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)	rs786205121
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)	rs753688777
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)	rs80338697
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys)	rs1085307451
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	rs370277502
NM_138694.4(PKHD1):c.5751+1G>A	rs775638588
NM_138701.4(MPLKIP):c.135C>G (p.Tyr45Ter)
NM_138927.4(SON):c.1881_1882del (p.Val629fs)	rs1569053308
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)	rs1064796472
NM_138927.4(SON):c.4897_4900del (p.Thr1633fs)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp)	rs1184981709
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	rs387906492
NM_139248.3(LIPH):c.280_369dup (p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnValValValValAspTrpAsnArgGlyAlaThrThrLeuIleTyrThrHisAlaSerSerLys)	rs1720449752
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)	rs869312888
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)	rs104894490
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter)	rs61729699
NM_144687.4(NLRP12):c.2072+1G>C	rs766603266
NM_145059.3(FCSK):c.1000_1018del (p.Glu335fs)	rs772518056
NM_145064.3(STAC3):c.432+4A>T	rs751033943
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_145246.5(FRA10AC1):c.380+1G>A	rs2492694754
NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu)	rs1776911945
NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg)	rs118203981
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)	rs2075190697
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)	rs606231435
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)	rs886041396
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)	rs80356533
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter)	rs1930251154
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys)	rs28940314
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)	rs761167763
NM_152558.5(IQCE):c.895_904del (p.Val301fs)	rs773701437
NM_152564.5(VPS13B):c.3445+1G>A
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)	rs386834098
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs)	rs386834105
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser)	rs878855337
NM_152906.7(TANGO2):c.443T>G (p.Leu148Trp)	rs2518903115
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)	rs863225238
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)	rs762543032
NM_170606.3(KMT2C):c.10054C>G (p.Gln3352Glu)	rs2092568887
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)	rs879255264
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_170707.4(LMNA):c.1968+5G>A	rs797044488
NM_172107.4(KCNQ2):c.2331dup (p.Glu778fs)	rs2516096143
NM_172240.3(POC1B):c.1354C>T (p.Arg452Ter)
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)	rs758345818
NM_172351.3(CD46):c.350_351dup (p.Glu118fs)	rs2102541856
NM_172351.3(CD46):c.685C>T (p.Arg229Ter)	rs1553251787
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	rs886041300
NM_173354.5(SIK1):c.538_539del (p.Leu180fs)
NM_173660.5(DOK7):c.1263del (p.Ser422fs)	rs606231129
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser)	rs748946433
NM_177559.3(CSNK2A1):c.139C>T (p.Arg47Ter)
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_178014.4(TUBB):c.895A>G (p.Met299Val)	rs587777355
NM_178138.6(LHX3):c.79+1813G>C	rs886063706
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)	rs864321624
NM_181523.3(PIK3R1):c.1892G>A (p.Arg631Gln)	rs515726149
NM_181882.3(PRX):c.3098del (p.Thr1033fs)	rs2145727241
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)	rs1703021709
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)	rs757323641
NM_182916.3(TRNT1):c.644A>G (p.His215Arg)
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs)	rs1243172283
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)	rs397514515
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	rs864309483
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer)	rs2108622234
NM_197968.4(ZMYM2):c.3583C>T (p.Arg1195Ter)
NM_198173.3(GRHL3):c.738C>T (p.Gly246=)	rs886037767
NM_198239.2(CCN6):c.246del (p.Glu84fs)	rs797044438
NM_198239.2(CCN6):c.740_741del (p.Cys247fs)	rs727503755
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr)	rs121909715
NM_198282.4(STING1):c.457T>A (p.Phe153Ile)	rs2152094234
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter)	rs754785664
NM_198503.5(KCNT2):c.3055C>T (p.Arg1019Ter)	rs1035700995
NM_198576.4(AGRN):c.1177+4_1177+50del	rs765679438
NM_198576.4(AGRN):c.3001C>A (p.Pro1001Thr)	rs752212460
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)	rs1057520498
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	rs796052505
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)	rs2113325423
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)	rs776737156
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	rs150412614
NM_205861.3(DHDDS):c.110G>A (p.Arg37His)	rs1553121073
NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys)	rs2124374558
NM_206926.2(SELENON):c.1074_1075del (p.Glu360fs)
NM_206926.2(SELENON):c.1120G>T (p.Glu374Ter)	rs777659233
NM_206926.2(SELENON):c.1304G>A (p.Arg435Gln)	rs779162837
NM_206933.4(USH2A):c.10585+1G>A	rs2102763351
NM_206933.4(USH2A):c.1190T>A (p.Ile397Lys)	rs2037684112
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	rs139474806
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)	rs781195579
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	rs1057518826
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)	rs1285853856
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter)	rs1441358067
NM_207037.2(TCF12):c.778_779del (p.Met260fs)	rs2059175292
NM_207352.4(CYP4V2):c.1526C>T (p.Pro509Leu)	rs199476205
NM_207361.6(FREM2):c.437C>G (p.Pro146Arg)	rs564740435
NM_207391.3(RGS9BP):c.614dup (p.Cys206fs)	rs757764760
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter)	rs4774518
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521
NR_023317.1(RNU7-1):n.40_47del	rs1255543147
NR_023343.3(RNU4ATAC):n.50G>A	rs181195449
NR_033294.2(SNORD118):n.82A>G	rs779456932