Variants from New York Genome Center with conflicting interpretations

Minimum review status of the submission from New York Genome Center:		Collection method of the submission from New York Genome Center:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: 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
3279	918	6	175	291	6	95	538

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
New York Genome Center		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	drug response	protective	other
	pathogenic	4	84	10	2	2	1	2	1	1
	likely pathogenic	90	0	18	1	1	0	1	1	1
	uncertain significance	40	48	2	231	86	1	0	1	1
	likely benign	0	0	0	0	2	0	0	0	0

Submitter to submitter summary #

Total submitters: 202

Download table as spreadsheet

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	440	3	38	217	1	19	277
OMIM	0	78	0	25	0	1	17	42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	65	0	25	8	0	7	40
Fulgent Genetics, Fulgent Genetics	0	273	0	18	6	0	7	31
Illumina Laboratory Services, Illumina	0	130	0	5	22	0	5	31
Natera, Inc.	0	96	0	7	15	0	8	30
Mendelics	0	36	0	11	5	0	4	20
3billion	0	57	0	13	2	0	4	19
Revvity Omics, Revvity	0	115	0	12	1	0	7	19
Ambry Genetics	0	102	0	3	15	0	2	18
Baylor Genetics	0	110	0	11	1	0	7	18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	32	0	13	0	0	4	16
Genome-Nilou Lab	0	94	0	6	9	0	0	15
Counsyl	0	33	0	13	0	0	1	14
CeGaT Center for Human Genetics Tuebingen	0	12	0	2	10	0	2	13
PreventionGenetics, part of Exact Sciences	0	26	0	1	11	0	0	12
Variantyx, Inc.	0	35	1	10	0	0	1	12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	62	0	8	2	0	2	12
GeneDx	0	38	0	3	5	0	4	11
Institute of Human Genetics, University of Leipzig Medical Center	0	50	0	6	1	0	3	10
LDLR-LOVD, British Heart Foundation	0	7	0	6	3	0	1	10
Department of Pathology and Laboratory Medicine, Sinai Health System	0	60	0	3	3	0	3	9
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	4	0	4	2	0	2	8
Color Diagnostics, LLC DBA Color Health	0	12	0	3	4	0	0	7
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	18	0	2	0	0	5	7
Institute of Human Genetics Munich, TUM University Hospital	0	25	0	4	0	0	3	7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	24	0	4	2	0	1	7
Genetic Services Laboratory, University of Chicago	0	29	0	3	2	0	1	6
Solve-RD Consortium	0	2	0	4	0	0	2	6
All of Us Research Program, National Institutes of Health	0	18	0	3	2	0	0	5
Athena Diagnostics	0	2	0	1	4	0	2	5
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	4	0	3	2	0	0	5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	10	0	4	1	0	2	5
Fundacion Hipercolesterolemia Familiar	0	3	0	3	0	0	2	5
Juno Genomics, Hangzhou Juno Genomics, Inc	0	27	0	5	0	0	0	5
Myriad Genetics, Inc.	0	33	0	3	2	0	0	5
SIB Swiss Institute of Bioinformatics	0	5	0	4	1	0	0	5
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	3	0	1	0	0	4	5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	11	0	3	0	0	2	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	17	0	3	0	0	1	4
Dasa	0	20	0	4	0	0	0	4
Elsea Laboratory, Baylor College of Medicine	0	5	0	1	0	0	4	4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	26	0	4	0	0	1	4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	3	0	1	0	0	3	4
Robarts Research Institute, Western University	0	1	0	3	1	0	0	4
Breakthrough Genomics, Breakthrough Genomics	0	21	0	1	2	0	1	3
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	0	0	2	0	0	1	3
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	2	0	1	0	0	2	3
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	13	0	1	1	0	1	3
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	0	0	0	0	3	0	0	3
ClinPGx	0	0	0	0	0	3	0	3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	9	0	1	2	0	0	3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	5	0	0	0	0	3	3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	3	1	1	0	0	1	3
Department of Human Genetics, Hannover Medical School	0	15	0	3	0	0	0	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	7	0	1	2	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	10	0	1	0	0	2	3
Genomics England Pilot Project, Genomics England	0	3	0	3	0	0	0	3
Hadassah Hebrew University Medical Center	0	7	0	2	0	0	1	3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	14	0	1	0	0	2	3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	13	1	1	0	0	1	3
Iberoamerican FH Network	0	2	0	2	0	0	1	3
MGZ Medical Genetics Center	0	26	0	3	0	0	0	3
Mayo Clinic Laboratories, Mayo Clinic	0	4	0	1	3	0	1	3
Neuberg Centre For Genomic Medicine, NCGM	0	31	0	1	0	0	2	3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	19	0	3	0	0	1	3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	24	0	0	2	0	0	2
Cavalleri Lab, Royal College of Surgeons in Ireland	0	2	0	1	0	0	1	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	23	0	0	1	0	1	2
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	5	0	2	0	0	0	2
Clinical Genetics Laboratory, Skane University Hospital Lund	0	8	0	2	0	0	1	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	6	0	1	0	0	1	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	10	0	1	1	0	0	2
Eurofins Ntd Llc (ga)	0	8	0	2	1	1	1	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	2	0	1	0	0	1	2
GeneReviews	0	39	0	1	0	0	1	2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	2	0	2	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	29	0	2	0	0	0	2
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	6	0	2	0	0	1	2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	4	0	1	0	0	1	2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	3	0	1	0	0	1	2
Institute of Human Genetics, Heidelberg University	0	3	0	1	0	0	1	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	3	0	2	0	0	0	2
Medical Genetics Summaries	0	0	0	0	0	2	0	2
Medical and Scientific Branch, Hong Kong Genome Institute	0	2	0	2	0	0	0	2
Molecular Biology Laboratory, Fundació Puigvert	0	1	0	2	0	0	0	2
NIHR Bioresource Rare Diseases, University of Cambridge	0	2	0	2	0	0	1	2
Pediatric Genetics Clinic, Sheba Medical Center	0	3	0	2	0	0	0	2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	9	1	1	0	0	0	2
Suma Genomics	0	2	0	1	0	0	1	2
UCLA Clinical Genomics Center, UCLA	0	1	0	2	0	0	0	2
Undiagnosed Diseases Network, NIH	0	7	0	2	0	0	1	2
University of Washington Center for Mendelian Genomics, University of Washington	0	0	0	2	0	0	1	2
AiLife Diagnostics, AiLife Diagnostics	0	0	0	1	0	0	0	1
Applied Translational Genetics Group, University of Auckland	0	0	0	0	0	0	1	1
Bicknell laboratory, University of Otago	0	0	0	1	0	0	0	1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	1	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	12	0	0	0	0	1	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	1	0	1	0	0	1	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	0	0	1	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	2	0	1	0	0	0	1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	2	0	1	0	0	0	1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	0	0	0	0	0	1	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	0	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	1	1
Central Laboratory, The First Hospital of Lanzhou University	0	0	0	1	0	0	1	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	7	0	1	0	0	0	1
Centre for Medical Genetics, Mumbai	0	0	0	0	1	0	0	1
Centre for Population Genomics, CPG	0	1	0	1	0	0	0	1
Centre of Medical Genetics, University Hospital Muenster	0	2	0	1	0	0	0	1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital	0	0	0	1	0	0	1	1
ClinGen Antibody Deficiencies Variant Curation Expert Panel, ClinGen	0	0	0	0	1	0	0	1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	0	1	0	0	1	0	0	1
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	0	0	0	1	0	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	1	0	1	0	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	0	1	0	1	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	13	0	1	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	6	0	1	0	0	0	1
Clinical Research Ward, Shanghai Children's Medical Center	0	0	0	1	0	0	0	1
Cytogenetics, Genetics Associates, Inc.	0	0	0	1	0	0	1	1
DBGen Ocular Genomics	0	0	0	1	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	15	0	1	0	0	1	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	1	0	0	1	0	0	1
Department of Genetics, Sultan Qaboos University Hospital	0	4	0	0	0	0	1	1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	2	1	0	0	0	0	1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	1	0	1	0	0	1	1
Department of Pathophysiology and Transplantation, University of Milan	0	0	0	0	0	0	1	1
Department of Pediatrics, Jichi Medical University	0	0	0	1	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	0	0	1	0	0	0	1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	0	0	0	0	0	0	1	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	0	0	1	0	0	0	1
Dr.Nikuei Genetic Center	0	0	0	0	1	0	0	1
Dunham Lab, University of Washington	0	2	0	1	0	0	0	1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research	0	0	0	0	1	0	0	1
Flegel Lab, National Institutes of Health	0	0	0	1	0	0	1	1
GENinCode PLC	0	1	0	0	1	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	1	0	1	1	0	1	1
Gene2Care/ Palmer Lab, University of New South Wales	0	0	0	0	0	0	1	1
Genetic Diseases Diagnostic Center, Koc University Hospital	0	0	1	0	0	0	0	1
Genetic Foundation of Khorasan Razavi (GFKR)	0	0	0	1	0	0	0	1
Genetics Department, Catlab	0	0	0	1	0	0	0	1
Genetics Department, University Hospital of Toulouse	0	0	0	1	0	0	1	1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	0	0	1	0	0	1	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	2	0	0	1	0	0	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	1	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	3	0	1	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	6	0	0	0	0	1	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	0	0	1	0	0	1	1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	1	0	1	0	0	0	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	1	1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	2	0	1	0	0	0	1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles	0	0	0	0	0	0	1	1
Institute for Human Genetics, University Hospital Essen	0	0	0	0	0	0	1	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	1	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	3	0	0	0	0	1	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	5	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	5	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	12	0	0	0	0	1	1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	1	0	0	0	0	1	1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	1	0	1	0	0	0	1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	3	0	0	0	0	1	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	0	0	0	0	1	1
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	2	0	0	0	0	1	1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	0	0	1	0	0	0	1
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	1	0	0	1	0	0	1
Laboratory of Human Genetics, Universidade de São Paulo	0	0	0	0	0	0	1	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	19	0	1	0	0	0	1
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	0	0	1	0	0	0	1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	0	0	0	0	0	1	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	0	1	0	0	1	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	0	0	0	0	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	1	0	0	1	1
Medical Genetics Laboratory, Tarbiat Modares University	0	0	0	0	0	0	1	1
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia	0	0	0	1	0	0	0	1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	0	0	1	0	0	0	1
Molecular Endocrinology Laboratory, Christian Medical College	0	2	0	1	0	0	0	1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	3	0	1	0	0	0	1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	3	0	1	0	0	0	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	1	1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	3	0	0	0	0	1	1
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	0	0	1	0	0	0	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	1	0	0	1	1
New York Genome Center	4729	5	0	1	0	0	1	1
OLLIN Analises Genomicas, OLLIN	0	15	0	1	0	0	0	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	2	0	1	0	0	0	1
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University	0	0	0	1	0	0	0	1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	0	0	0	1	0	0	1	1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital	0	0	0	0	0	0	1	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	9	0	0	0	0	1	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	1	0	1	0	0	1	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	1	0	1	1
Rare Disease Group, University of Exeter	0	0	0	1	0	0	1	1
Reproductive Health Research and Development, BGI Genomics	0	7	0	0	0	0	1	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	2	0	1	0	0	1	1
Service de Génétique Moléculaire, Hôpital Robert Debré	0	3	0	0	0	0	1	1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	0	0	1	0	0	0	1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud	0	0	0	0	0	0	1	1
SingHealth Duke-NUS Institute of Precision Medicine	0	0	0	0	0	0	1	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	5	0	1	0	0	0	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Wendy Chung Laboratory, Boston Children's Hospital	0	0	0	0	0	0	1	1
Yale Center for Mendelian Genomics, Yale University	0	1	0	1	0	0	0	1

All variants with conflicting interpretations #

Total variants: 538

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03738
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01412
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)	rs41297018	0.00940
NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn)	rs2231752	0.00491
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00475
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)	rs151098394	0.00465
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)	rs28940272	0.00396
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)	rs116262072	0.00392
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00342
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)	rs114557412	0.00326
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser)	rs547565552	0.00316
NM_033419.5(PGAP3):c.*559C>T	rs183208638	0.00300
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)	rs113298164	0.00288
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)	rs28932472	0.00279
NM_024649.5(BBS1):c.24T>C (p.Asp8=)	rs55848325	0.00267
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)	rs28362286	0.00262
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)	rs121912698	0.00260
NM_001384317.1(ZHX3):c.2249A>T (p.Asp750Val)	rs147861291	0.00246
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	rs115746363	0.00243
NM_007315.4(STAT1):c.793A>G (p.Ile265Val)	rs148775168	0.00223
NM_004525.3(LRP2):c.11663G>A (p.Arg3888His)	rs77686710	0.00218
NM_020759.3(STARD9):c.10480G>A (p.Val3494Ile)	rs143444286	0.00190
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00186
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)	rs149318176	0.00178
NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys)	rs34832477	0.00166
NM_194454.3(KRIT1):c.*137del	rs543954194	0.00165
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)	rs61747068	0.00152
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala)	rs141467694	0.00138
NM_194454.3(KRIT1):c.*132T>G	rs572414111	0.00138
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)	rs151009667	0.00137
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)	rs111722949	0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00131
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)	rs141553756	0.00131
NM_020661.4(AICDA):c.427+4C>T	rs201180477	0.00130
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala)	rs201210527	0.00127
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	rs141373204	0.00123
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)	rs79179577	0.00123
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)	rs147577332	0.00118
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00116
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile)	rs147638245	0.00116
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser)	rs1800496	0.00115
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)	rs5928	0.00113
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His)	rs143935839	0.00113
NM_000384.3(APOB):c.307T>C (p.Tyr103His)	rs9282603	0.00108
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)	rs143024324	0.00107
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)	rs139491925	0.00104
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)	rs72653093	0.00102
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)	rs80232004	0.00101
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	rs72650677	0.00100
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)	rs147358733	0.00098
NM_001144952.2(SDK2):c.2810G>A (p.Arg937Gln)	rs144141099	0.00098
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)	rs34656239	0.00097
NM_004758.4(TSPOAP1):c.4964G>A (p.Arg1655Gln)	rs147089668	0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)	rs141528309	0.00096
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	rs143999854	0.00093
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)	rs138481453	0.00092
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)	rs199768740	0.00088
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)	rs142710681	0.00087
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)	rs73464271	0.00086
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn)	rs146471967	0.00086
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	rs142269885	0.00083
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)	rs117148013	0.00078
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)	rs146733308	0.00074
NM_022437.3(ABCG8):c.1411+8T>A	rs201991639	0.00074
NM_152730.6(TBC1D32):c.695G>A (p.Arg232Gln)	rs181574808	0.00072
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)	rs120074114	0.00071
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00071
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)	rs140601319	0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)	rs142248228	0.00070
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)	rs145890213	0.00070
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00068
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)	rs201390755	0.00065
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)	rs141387770	0.00064
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)	rs143460342	0.00064
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)	rs148195424	0.00063
NM_005912.3(MC4R):c.335C>T (p.Thr112Met)	rs13447329	0.00062
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)	rs146490788	0.00061
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)	rs41288783	0.00058
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)	rs201252809	0.00057
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	rs555421894	0.00056
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)	rs181625846	0.00053
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)	rs368075745	0.00051
NM_022552.5(DNMT3A):c.640-1439G>A	rs150451861	0.00051
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)	rs137853242	0.00050
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)	rs144840779	0.00050
NM_000207.3(INS):c.227G>A (p.Ser76Asn)	rs139264769	0.00049
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)	rs147281546	0.00047
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	rs137853964	0.00046
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)	rs147744868	0.00046
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)	rs104895564	0.00046
NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr)	rs143250090	0.00046
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)	rs114371269	0.00044
NM_004722.4(AP4M1):c.407C>T (p.Thr136Met)	rs138131967	0.00043
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)	rs141098495	0.00043
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His)	rs200176373	0.00043
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu)	rs148890852	0.00042
NM_007315.4(STAT1):c.722G>A (p.Arg241Gln)	rs146273341	0.00042
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)	rs142803672	0.00041
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp)	rs147098410	0.00040
NM_033028.5(BBS4):c.24+8C>T	rs200055760	0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	rs201697532	0.00039
NM_000156.6(GAMT):c.570+4C>T	rs199967562	0.00039
NM_145207.3(AFG2A):c.637G>A (p.Asp213Asn)	rs139066705	0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)	rs147472391	0.00036
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)	rs193922584	0.00036
NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln)	rs374943049	0.00036
NM_012452.3(TNFRSF13B):c.604C>T (p.Arg202Cys)	rs143562358	0.00036
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	rs199946797	0.00035
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)	rs151254520	0.00034
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)	rs142542453	0.00034
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)	rs145728297	0.00033
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)	rs58528748	0.00032
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=)	rs201525976	0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)	rs115209243	0.00031
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr)	rs147017239	0.00030
NM_015662.3(IFT172):c.1523G>A (p.Arg508His)	rs144868723	0.00030
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)	rs151193009	0.00030
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280	0.00029
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	rs121913563	0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	rs5742904	0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)	rs144600401	0.00028
NM_001626.6(AKT2):c.212A>G (p.Asn71Ser)	rs200272953	0.00028
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)	rs201083157	0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)	rs202039659	0.00027
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln)	rs201921601	0.00027
NM_000100.4(CSTB):c.67-1G>C	rs147484110	0.00026
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)	rs191293931	0.00026
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)	rs367930028	0.00026
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala)	rs139661242	0.00025
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)	rs370574933	0.00025
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)	rs374716369	0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00023
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)	rs191233787	0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)	rs541943893	0.00023
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile)	rs139394414	0.00023
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)	rs118204057	0.00022
NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln)	rs138279736	0.00021
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)	rs373076763	0.00021
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)	rs141638933	0.00021
NM_001366385.1(CARD14):c.2320G>A (p.Val774Ile)	rs138833596	0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	rs138011813	0.00020
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)	rs190298665	0.00019
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)	rs142702699	0.00019
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)	rs201312113	0.00019
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)	rs149012859	0.00019
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)	rs143441644	0.00017
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)	rs527295360	0.00017
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)	rs142756262	0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met)	rs144908941	0.00016
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00015
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)	rs201139273	0.00015
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)	rs201728850	0.00015
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)	rs141834182	0.00015
NM_001920.5(DCN):c.621T>G (p.Ile207Met)	rs373676217	0.00014
NM_003041.4(SLC5A2):c.885+5G>A	rs200228142	0.00014
NM_006514.4(SCN10A):c.4581G>A (p.Met1527Ile)	rs369978695	0.00014
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn)	rs532127028	0.00014
NM_152564.5(VPS13B):c.3083-8G>A	rs201973611	0.00014
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu)	rs148502464	0.00013
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile)	rs367664536	0.00013
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)	rs143815396	0.00013
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn)	rs558814304	0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	rs71530923	0.00013
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)	rs183855575	0.00012
NM_000384.3(APOB):c.400G>T (p.Ala134Ser)	rs368321279	0.00011
NM_001367479.1(DNAH14):c.9698C>T (p.Ala3233Val)	rs745928222	0.00011
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser)	rs376756158	0.00011
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter)	rs61758444	0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile)	rs201336247	0.00011
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)	rs397515426	0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	rs79783591	0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)	rs200322968	0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	rs199689137	0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	rs143031195	0.00011
NM_000286.3(PEX12):c.681-2A>C	rs187526749	0.00010
NM_000518.5(HBB):c.93-21G>A	rs35004220	0.00010
NM_005505.5(SCARB1):c.83T>C (p.Met28Thr)	rs77554031	0.00010
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)	rs766372684	0.00010
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg)	rs368465960	0.00010
NM_017757.3(ZNF407):c.41A>G (p.Glu14Gly)	rs762941748	0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)	rs146812823	0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	rs121908177	0.00010
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)	rs375665715	0.00009
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)	rs761837954	0.00009
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr)	rs780170292	0.00009
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)	rs121917973	0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	rs80338853	0.00009
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn)	rs587778463	0.00009
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)	rs369459749	0.00009
NM_006618.5(KDM5B):c.2474+1G>A	rs542983923	0.00009
NM_015087.5(SPART):c.364_365del (p.Met122fs)	rs775736341	0.00009
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp)	rs573629753	0.00009
NM_145886.4(PIDD1):c.2042-2A>G	rs199752248	0.00009
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	rs111033299	0.00008
NM_013275.6(ANKRD11):c.1360G>A (p.Val454Met)	rs149569330	0.00008
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)	rs189768576	0.00007
NM_000168.6(GLI3):c.3734A>G (p.His1245Arg)	rs372740903	0.00007
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr)	rs369310292	0.00007
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)	rs200034452	0.00007
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)	rs149306841	0.00007
NM_000545.8(HNF1A):c.341G>A (p.Arg114His)	rs139016696	0.00007
NM_002225.5(IVD):c.550+1G>A	rs377147994	0.00007
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala)	rs759520932	0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)	rs386833988	0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	rs80338795	0.00007
NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys)	rs369421455	0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_000271.5(NPC1):c.2359A>G (p.Ile787Val)	rs202046984	0.00006
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292	0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter)	rs147622852	0.00006
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter)	rs369755459	0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)	rs150401343	0.00006
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)	rs752396911	0.00006
NM_005068.3(SIM1):c.1147A>G (p.Arg383Gly)	rs188821440	0.00006
NM_007327.4(GRIN1):c.467G>A (p.Arg156His)	rs762490192	0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)	rs752140135	0.00006
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr)	rs570782024	0.00005
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser)	rs183398286	0.00005
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu)	rs201926213	0.00005
NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu)	rs185224477	0.00005
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg)	rs372956200	0.00005
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)	rs879255079	0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G	rs770046688	0.00005
NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser)	rs544407449	0.00005
NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu)	rs1054025123	0.00005
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)	rs757915171	0.00005
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser)	rs775566992	0.00005
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr)	rs114527197	0.00005
NM_015047.3(EMC1):c.1632+2T>C	rs760060777	0.00005
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)	rs143821815	0.00005
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)	rs1003586835	0.00005
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00005
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr)	rs376825639	0.00004
NM_000527.5(LDLR):c.1359-5C>G	rs531005522	0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	rs376459828	0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)	rs768219929	0.00004
NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val)	rs186508321	0.00004
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr)	rs200889338	0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)	rs745775887	0.00004
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln)	rs370754278	0.00004
NM_001148.6(ANK2):c.8395G>A (p.Asp2799Asn)	rs374145576	0.00004
NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly)	rs140539843	0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)	rs372321643	0.00004
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr)	rs767232021	0.00004
NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser)	rs1324674144	0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)	rs749249146	0.00004
NM_005618.4(DLL1):c.2075C>T (p.Pro692Leu)	rs773530345	0.00004
NM_005862.3(STAG1):c.1189G>C (p.Val397Leu)	rs201846240	0.00004
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln)	rs777992018	0.00004
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)	rs780875110	0.00004
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)	rs375749415	0.00004
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)	rs574641900	0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)	rs138171489	0.00004
NM_000141.5(FGFR2):c.1382C>T (p.Ala461Val)	rs376451171	0.00003
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)	rs752373431	0.00003
NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu)	rs776008744	0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)	rs764493597	0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)	rs551747280	0.00003
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)	rs781864075	0.00003
NM_001170629.2(CHD8):c.4343G>A (p.Arg1448Gln)	rs915195873	0.00003
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter)	rs768509996	0.00003
NM_001378328.1(CELSR1):c.929T>C (p.Val310Ala)	rs1017161806	0.00003
NM_001953.5(TYMP):c.1160-1G>A	rs797044455	0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)	rs1264567694	0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)	rs755492444	0.00003
NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu)	rs936778119	0.00003
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met)	rs565025643	0.00003
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)	rs775780402	0.00003
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)	rs779261547	0.00003
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser)	rs760985201	0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)	rs151173406	0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro)	rs756570347	0.00003
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)	rs1360863995	0.00003
NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln)	rs536081800	0.00003
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)	rs149439295	0.00003
NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr)	rs764078087	0.00003
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	rs772226819	0.00002
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)	rs748186190	0.00002
NM_000384.3(APOB):c.10114T>G (p.Ser3372Ala)	rs138850232	0.00002
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly)	rs757383498	0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)	rs369776766	0.00002
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)	rs587778738	0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)	rs587783139	0.00002
NM_001134407.3(GRIN2A):c.91C>T (p.Pro31Ser)	rs199942034	0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)	rs749809456	0.00002
NM_003036.4(SKI):c.1439C>T (p.Ser480Leu)	rs367916348	0.00002
NM_003482.4(KMT2D):c.935C>A (p.Ala312Asp)	rs750484458	0.00002
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser)	rs1291730464	0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)	rs370689343	0.00002
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp)	rs748333558	0.00002
NM_007118.4(TRIO):c.6725C>T (p.Thr2242Met)	rs55916212	0.00002
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)	rs587777714	0.00002
NM_014920.5(CILK1):c.914A>C (p.Lys305Thr)	rs765078446	0.00002
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr)	rs770733075	0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)	rs201757275	0.00002
NM_080425.4(GNAS):c.988A>G (p.Ile330Val)	rs201597085	0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)	rs140353201	0.00002
NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser)	rs200146448	0.00002
NM_000026.4(ADSL):c.1102-6C>G	rs758666194	0.00001
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)	rs782062633	0.00001
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)	rs151163582	0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	rs12720458	0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)	rs1052471595	0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)	rs80358252	0.00001
NM_000277.3(PAH):c.842+3G>C	rs62507324	0.00001
NM_000384.3(APOB):c.10807C>T (p.His3603Tyr)	rs750646887	0.00001
NM_000384.3(APOB):c.218C>A (p.Ala73Asp)	rs377171241	0.00001
NM_000384.3(APOB):c.2821A>T (p.Thr941Ser)	rs748256431	0.00001
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr)	rs149357946	0.00001
NM_000384.3(APOB):c.4366G>A (p.Asp1456Asn)	rs147759262	0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)	rs773209126	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.1618G>A (p.Ala540Thr)	rs769370816	0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	rs730882078	0.00001
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)	rs748944640	0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)	rs121908040	0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His)	rs397514495	0.00001
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)	rs375883030	0.00001
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu)	rs45517352	0.00001
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val)	rs1458368988	0.00001
NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln)	rs769709112	0.00001
NM_001042492.3(NF1):c.256A>G (p.Ile86Val)	rs757057811	0.00001
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr)	rs1555482611	0.00001
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln)	rs1038557470	0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter)	rs781469274	0.00001
NM_001370658.1(BTD):c.1399del (p.Trp467fs)	rs397514423	0.00001
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter)	rs886039821	0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)	rs989080548	0.00001
NM_001458.5(FLNC):c.3791-1G>C	rs781135153	0.00001
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val)	rs1943073751	0.00001
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe)	rs750774484	0.00001
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe)	rs771209224	0.00001
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His)	rs745599611	0.00001
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser)	rs976882824	0.00001
NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His)	rs1266718915	0.00001
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn)	rs779260688	0.00001
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg)	rs587778458	0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr)	rs587783724	0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)	rs758685548	0.00001
NM_004035.7(ACOX1):c.538+1G>A	rs1466419887	0.00001
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660	0.00001
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys)	rs773159964	0.00001
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu)	rs557611780	0.00001
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)	rs781438241	0.00001
NM_004408.4(DNM1):c.1558-3C>T	rs546517702	0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)	rs1204519015	0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)	rs1447311755	0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	rs121913529	0.00001
NM_005045.4(RELN):c.8051G>A (p.Arg2684His)	rs201157987	0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp)	rs587777334	0.00001
NM_005912.3(MC4R):c.171del (p.Ser58fs)	rs746241281	0.00001
NM_006767.4(LZTR1):c.2407-2A>G	rs1158550690	0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu)	rs748480687	0.00001
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)	rs779464455	0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)	rs587779410	0.00001
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu)	rs1382549860	0.00001
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs)	rs1391540245	0.00001
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser)	rs372521251	0.00001
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile)	rs2041416610	0.00001
NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter)	rs1786845541	0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)	rs201840472	0.00001
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)	rs993687029	0.00001
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)	rs764518030	0.00001
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)	rs1805737676	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly)	rs776593168	0.00001
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys)	rs1064796750	0.00001
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser)	rs1360721056	0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	rs121908636	0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)	rs180177356	0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)	rs780598553	0.00001
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter)	rs1162037663	0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	rs56816490	0.00001
G6PD A-
NC_000014.9:g.87925163_87956828del
NC_012920.1(MT-CYB):m.14846G>A	rs207459998
NC_012920.1(MT-RNR1):m.1494C>T	rs267606619
NC_012920.1(MT-RNR1):m.1555A>G	rs267606617
NC_012920.1(MT-TI):m.4284G>A	rs121434468
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)	rs782122122
NM_000041.4(APOE):c.460C>A (p.Arg154Ser)	rs121918393
NM_000052.7(ATP7A):c.4124-538A>G	rs2149113261
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	rs80359439
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	rs1176770868
NM_000088.4(COL1A1):c.1174G>A (p.Gly392Arg)	rs2509227703
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)	rs887190843
NM_000128.4(F11):c.1204C>T (p.Gln402Ter)	rs1741002305
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)	rs1280320763
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly)	rs2039600745
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)	rs397508090
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	rs606231324
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)	rs139794067
NM_000260.4(MYO7A):c.2905-1G>C	rs1171417339
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)	rs797044512
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)	rs62507282
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)	rs1569191372
NM_000335.5(SCN5A):c.274-5C>G	rs773669619
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)	rs538778224
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	rs151344624
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln)	rs730881069
NM_000383.4(AIRE):c.1504-818G>A	rs181779633
NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys)	rs150312765
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup)	rs777844352
NM_000384.3(APOB):c.649C>T (p.Pro217Ser)	rs573308525
NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile)	rs375053331
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)	rs879254851
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)	rs777188764
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)	rs143872778
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)	rs879254382
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	rs121908027
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)	rs397507445
NM_000546.6(TP53):c.818G>A (p.Arg273His)	rs28934576
NM_000548.5(TSC2):c.1257+5G>A	rs2151157428
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)	rs376017665
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	rs61749370
NM_001001331.4(ATP2B2):c.2765C>T (p.Ser922Leu)	rs1057520233
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)	rs199474732
NM_001042603.3(KDM5A):c.1726C>T (p.Gln576Ter)	rs773333271
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)	rs1199226176
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)	rs886039472
NM_001102401.4(TTI2):c.1350dup (p.Lys451Ter)	rs758541435
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)	rs1603363301
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	rs61748390
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=)	rs231399
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)	rs556562410
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs)	rs758683818
NM_001127222.2(CACNA1A):c.3090-5C>T	rs976595665
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile)	rs753223319
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)	rs1057521083
NM_001271.4(CHD2):c.2189+8C>T	rs1486555733
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)	rs2054200789
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	rs45578238
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala)	rs760601613
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly)	rs751046231
NM_001320.7(CSNK2B):c.494A>G (p.His165Arg)	rs1802026476
NM_001348716.2(KDM6B):c.4737+1G>A	rs2151380267
NM_001360.3(DHCR7):c.744G>A (p.Trp248Ter)	rs104894212
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys)	rs121908910
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)	rs397514627
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)	rs786204242
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)	rs200925575
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	rs1562998062
NM_001482.3(GATM):c.297A>G (p.Thr99=)	rs1445305823
NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn)	rs587777388
NM_001830.4(CLCN4):c.944G>A (p.Arg315His)	rs1374813094
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)	rs146134172
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)	rs150463750
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002468.5(MYD88):c.-24_-6del	rs746651350
NM_002468.5(MYD88):c.103_104del (p.Leu35fs)	rs776336832
NM_002667.5(PLN):c.63_64dup (p.Gln22fs)	rs794729138
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)	rs876658461
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu)	rs1334690406
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)	rs767337086
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)	rs1600388982
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala)	rs772169265
NM_003482.4(KMT2D):c.4163G>A (p.Arg1388Gln)	rs202217665
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)	rs34391522
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)	rs1577059692
NM_004369.4(COL6A3):c.761del (p.Gly254fs)	rs780921503
NM_004380.3(CREBBP):c.3779+1G>C	rs587783483
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	rs770873593
NM_004463.3(FGD1):c.277dup (p.Tyr93fs)	rs1557191567
NM_004525.3(LRP2):c.169G>T (p.Ala57Ser)	rs147295930
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)	rs751575036
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)	rs1984264748
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)	rs371077728
NM_006005.3(WFS1):c.578dup (p.Gln194fs)	rs779272128
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)	rs549586181
NM_006593.4(TBR1):c.358C>T (p.Pro120Ser)	rs1559059936
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)	rs121434638
NM_006772.3(SYNGAP1):c.1913+5G>A	rs1761021575
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile)	rs768878991
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser)	rs1038956173
NM_006772.3(SYNGAP1):c.3394T>C (p.Ser1132Pro)	rs2151191235
NM_006895.3(HNMT):c.475del (p.His159fs)	rs765863580
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met)	rs2148725999
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter)	rs778947923
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	rs1057523157
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)	rs878853282
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)	rs1553252938
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)	rs146664036
NM_017780.4(CHD7):c.5210+3A>G	rs1554602588
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs)	rs199422163
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter)	rs1261895166
NM_019109.5(ALG1):c.946G>A (p.Val316Ile)	rs150272167
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)	rs201737651
NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter)	rs1347078601
NM_020988.3(GNAO1):c.724-8G>A	rs1085307876
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser)	rs2141138001
NM_021957.4(GYS2):c.1413_1416del (p.Asp471fs)	rs1199090828
NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter)	rs1292724234
NM_024757.5(EHMT1):c.216C>A (p.His72Gln)	rs374930132
NM_025099.6(CTC1):c.248_251dup (p.His84fs)	rs745467709
NM_030665.4(RAI1):c.467A>G (p.Gln156Arg)	rs977107435
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs)	rs754216321
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter)	rs746967719
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)	rs1060505041
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly)	rs141090506
NM_144773.4(PROKR2):c.254G>T (p.Arg85Leu)	rs74315418
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)	rs786204456
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)	rs759536357
NM_152743.4(BRAT1):c.638dup (p.Val214fs)	rs730880324
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)	rs1555873985
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)	rs149311926
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)	rs569379713
NM_177972.3(TUB):c.1215+1G>A	rs1589996458
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)	rs145844329
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)	rs1401715737
NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp)	rs141867330
NM_205768.3(ZBTB18):c.1207del (p.Arg403fs)	rs2148557361
Single allele

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