Variants from New York Genome Center with conflicting interpretations

Minimum review status of the submission from New York Genome Center:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from New York Genome Center:	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)
		ClinVar version: 2024-03-31

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
3426	730	3	127	266	10	83	459

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	affects	association	drug response	pathogenic, low penetrance	protective	risk factor	uncertain risk allele	other
	pathogenic	2	58	8	1	2	1	0	1	3	1	0	0	1
	likely pathogenic	69	1	16	2	1	0	0	0	0	1	0	0	1
	uncertain significance	31	39	0	215	74	0	1	0	0	1	1	1	1
	likely benign	0	0	0	0	1	0	0	0	0	0	0	0	0
	established risk allele	1	1	1	0	0	0	1	0	0	0	1	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
Invitae	0	417	0	33	198	4	19	253
OMIM	0	59	0	18	0	3	15	36
GeneDx	0	68	0	6	24	0	4	32
Illumina Laboratory Services, Illumina	0	115	0	5	18	0	5	27
PreventionGenetics, part of Exact Sciences	0	17	0	0	23	0	2	24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	44	0	12	4	0	3	19
Natera, Inc.	0	75	0	2	15	0	2	19
Baylor Genetics	0	87	0	10	0	1	6	16
Revvity Omics, Revvity	0	86	0	9	1	0	6	16
Fulgent Genetics, Fulgent Genetics	0	179	0	11	4	0	1	16
Ambry Genetics	0	33	0	3	9	0	3	15
Mendelics	0	27	0	6	5	1	3	15
CeGaT Center for Human Genetics Tuebingen	0	11	0	2	10	0	4	15
Counsyl	0	29	0	12	0	1	1	14
Genome-Nilou Lab	0	81	0	5	7	0	0	12
LDLR-LOVD, British Heart Foundation	0	6	0	5	3	0	1	9
Color Diagnostics, LLC DBA Color Health	0	9	0	4	4	0	1	9
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	4	0	4	2	0	2	8
Athena Diagnostics Inc	0	8	0	1	5	0	2	7
Institute of Human Genetics, University of Leipzig Medical Center	0	31	0	3	1	0	3	7
3billion	0	20	0	5	0	0	2	7
Genetic Services Laboratory, University of Chicago	0	34	0	3	2	0	1	6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	23	0	3	1	0	1	5
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	3	0	1	0	0	4	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
Elsea Laboratory, Baylor College of Medicine	0	5	0	1	0	0	4	4
Eurofins Ntd Llc (ga)	0	18	0	3	2	1	1	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	30	0	4	0	0	0	4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	11	0	2	0	1	1	4
Robarts Research Institute, Western University	0	1	0	3	1	0	0	4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	7	0	3	1	1	1	4
SIB Swiss Institute of Bioinformatics	0	4	0	3	1	0	0	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	4	0	0	2	1	1	4
Fundacion Hipercolesterolemia Familiar	0	3	0	3	0	0	1	4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	11	0	1	3	0	1	4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	7	0	2	0	0	3	4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	21	0	4	0	0	1	4
MGZ Medical Genetics Center	0	22	0	3	0	0	0	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	7	0	1	2	0	0	3
GeneReviews	0	31	2	1	0	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	8	0	1	0	0	2	3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	13	0	1	0	0	2	3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	3	0	1	0	0	2	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	17	0	3	0	0	0	3
Iberoamerican FH Network	0	2	0	2	0	0	1	3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	11	0	2	1	0	0	3
Myriad Genetics, Inc.	0	27	0	3	0	0	0	3
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	0	0	2	0	0	1	3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	19	0	2	0	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	8	0	2	0	0	1	2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	0	1	1	0	0	0	2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	21	0	1	0	0	1	2
UCLA Clinical Genomics Center, UCLA	0	0	0	2	0	0	0	2
University of Washington Center for Mendelian Genomics, University of Washington	0	0	0	2	0	0	1	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	0	1	0	0	2	2
Hadassah Hebrew University Medical Center	0	2	0	1	0	0	1	2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	3	0	1	0	0	1	2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	8	0	1	1	0	0	2
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	2	0	1	0	0	1	2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	4	0	1	0	0	1	2
NIHR Bioresource Rare Diseases, University of Cambridge	0	1	0	2	0	0	1	2
Undiagnosed Diseases Network, NIH	0	5	0	2	0	0	1	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	20	0	0	1	0	1	2
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	6	0	2	0	0	1	2
Pediatric Genetics Clinic, Sheba Medical Center	0	3	0	2	0	0	0	2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	9	0	1	1	0	0	2
Suma Genomics	0	2	0	1	0	0	1	2
DASA	0	17	0	2	0	0	0	2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	2	0	0	0	0	2	2
Genomics England Pilot Project, Genomics England	0	3	0	2	0	0	0	2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	3	0	1	0	1	0	2
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	2	0	1	0	0	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	0	0	0	0	0	1	1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	2	0	0	1	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	17	0	0	1	0	0	1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	0	0	1	0	0	0	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	3	0	1	0	0	0	1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	1	0	1	0	0	0	1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	2	0	1	0	0	0	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	3	0	1	0	0	1	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	1	0	1	0	0	0	1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	0	0	0	1	0	0	1	1
PharmGKB	0	0	0	0	0	1	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	0	0	0	0	0	1	1
Service de Génétique Moléculaire, Hôpital Robert Debré	0	2	0	0	0	0	1	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Laboratory of Human Genetics, Universidade de São Paulo	0	0	0	0	0	0	1	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	2	0	0	0	0	1	1
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	0	0	1	0	0	0	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	1	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	0	0	1	0	0	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	3	0	1	0	0	0	1
Bicknell laboratory, University of Otago	0	0	0	1	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	1	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	5	0	1	0	0	1	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	1	0	0	1	1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	3	0	1	0	0	0	1
Muenke lab, National Institutes of Health	0	0	0	0	0	0	1	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	15	0	1	0	0	1	1
Applied Translational Genetics Group, University of Auckland	0	0	0	0	0	0	1	1
Herman Laboratory, Nationwide Children's Hospital	0	0	0	0	0	0	1	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	1	0	1	1	0	1	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	1	0	1	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	1	1
Flegel Lab, National Institutes of Health	0	0	0	1	0	0	1	1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	2	0	0	1	0	1	1
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia	0	0	0	1	0	0	0	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	5	0	0	1	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	1	0	1	0	0	1	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	10	0	0	0	0	1	1
SingHealth Duke-NUS Institute of Precision Medicine	0	0	0	0	0	0	1	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	2	0	1	0	0	0	1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux	0	0	0	0	0	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	1	0	0	1	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	0	0	0	1	0	1	1
Wendy Chung Laboratory, Columbia University Medical Center	0	0	0	0	0	0	1	1
Genetics and Genomics, Alberta Children's Hospital	0	0	0	0	0	0	1	1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	2	0	0	0	1	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	1	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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	1	0	1	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	5	0	0	0	0	1	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	1	1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo	0	0	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	9	0	0	0	1	0	1
Klaassen Lab, Charite University Medicine Berlin	0	0	0	1	0	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	0	0	0	1	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	1	0	1	0	0	1	1
Reproductive Health Research and Development, BGI Genomics	0	8	0	0	0	0	1	1
Clinical Genetics Research Group, Karolinska Institutet	0	0	0	0	0	0	1	1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles	0	0	0	0	0	0	1	1
Medical Genetics Laboratory, Tarbiat Modares University	0	0	0	0	0	0	1	1
Rare Disease Group, University of Exeter	0	0	0	1	0	0	1	1
Central Laboratory, The First Hospital of Lanzhou University	0	0	0	1	0	0	1	1
New York Genome Center	4613	1	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
AiLife Diagnostics, AiLife Diagnostics	0	3	0	1	0	0	0	1
Molecular Biology Laboratory, Fundació Puigvert	0	1	0	1	0	0	0	1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	1	0	1	0	0	0	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	0	0	1	0	0	1	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	3	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	13	0	0	0	0	1	1
DBGen Ocular Genomics	0	0	0	1	0	0	0	1
Molecular Endocrinology Laboratory, Christian Medical College	0	2	0	1	0	0	0	1
Gene2Care/ Palmer Lab, University of New South Wales	0	0	0	0	0	0	1	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	1	1
Cytogenetics, Genetics Associates, Inc.	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
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
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	2	0	0	0	1	0	1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	0	0	0	0	0	1	1
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	0	0	0	1	0	0	1

All variants with conflicting interpretations #

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	0.03880
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01450
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)	rs41297018	0.00964
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)	rs151098394	0.00465
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_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)	rs114557412	0.00354
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00347
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_033419.5(PGAP3):c.*559C>T	rs183208638	0.00300
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)	rs113298164	0.00299
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)	rs28932472	0.00286
NM_001384317.1(ZHX3):c.2249A>T (p.Asp750Val)	rs147861291	0.00270
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_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_003244.4(TGIF1):c.16+1499T>C	rs148390122	0.00215
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_020759.3(STARD9):c.10480G>A (p.Val3494Ile)	rs143444286	0.00205
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00202
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)	rs146321088	0.00197
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)	rs149318176	0.00178
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	rs147407423	0.00166
NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys)	rs34832477	0.00166
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)	rs61747068	0.00152
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala)	rs141467694	0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala)	rs201210527	0.00138
NM_194454.3(KRIT1):c.*132T>G	rs572414111	0.00138
NM_194454.3(KRIT1):c.*137del	rs543954194	0.00138
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)	rs111722949	0.00135
NM_020661.4(AICDA):c.427+4C>T	rs201180477	0.00130
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)	rs79179577	0.00123
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00120
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His)	rs143935839	0.00119
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	rs141373204	0.00119
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_001006658.3(CR2):c.1140G>A (p.Met380Ile)	rs147638245	0.00116
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)	rs143024324	0.00111
NM_032730.5(RTN4IP1):c.5A>C (p.Glu2Ala)	rs138612238	0.00110
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)	rs72653093	0.00108
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)	rs139491925	0.00106
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)	rs142710681	0.00105
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser)	rs1800496	0.00103
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	rs72650677	0.00100
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_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)	rs138481453	0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)	rs141528309	0.00096
NM_005883.3(APC2):c.3656C>T (p.Ala1219Val)	rs137877386	0.00093
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)	rs199768740	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_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)	rs202064612	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_001244008.2(KIF1A):c.1208-40G>A	rs375833834	0.00073
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala)	rs147309177	0.00073
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00072
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_000543.5(SMPD1):c.689G>A (p.Arg230His)	rs141387770	0.00071
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)	rs143460342	0.00071
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)	rs142248228	0.00070
NM_001379500.1(COL18A1):c.107-12210C>G	rs201773944	0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)	rs140601319	0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)	rs145890213	0.00068
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)	rs148195424	0.00066
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)	rs201390755	0.00065
NM_005912.3(MC4R):c.335C>T (p.Thr112Met)	rs13447329	0.00065
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)	rs137853242	0.00060
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00060
NM_004525.3(LRP2):c.4928G>A (p.Arg1643Gln)	rs147688332	0.00059
NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)	rs780650245	0.00058
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)	rs201252809	0.00057
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)	rs368075745	0.00055
NM_000391.4(TPP1):c.509-1G>C	rs56144125	0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)	rs181625846	0.00053
NM_022552.5(DNMT3A):c.640-1439G>A	rs150451861	0.00051
NM_000207.3(INS):c.227G>A (p.Ser76Asn)	rs139264769	0.00050
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)	rs141098495	0.00048
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)	rs147281546	0.00047
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)	rs147744868	0.00046
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)	rs369777874	0.00045
NM_145207.3(AFG2A):c.637G>A (p.Asp213Asn)	rs139066705	0.00045
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu)	rs148890852	0.00044
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)	rs114371269	0.00044
NM_020987.5(ANK3):c.11678G>C (p.Ser3893Thr)	rs12260663	0.00044
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)	rs104895564	0.00044
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His)	rs200176373	0.00043
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_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)	rs151254520	0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)	rs193922584	0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)	rs147472391	0.00036
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)	rs145728297	0.00036
NM_001080517.3(SETD5):c.2866A>T (p.Thr956Ser)	rs201868415	0.00035
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)	rs143264567	0.00035
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)	rs142542453	0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	rs199946797	0.00035
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_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	rs199747962	0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	rs121913563	0.00031
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)	rs115209243	0.00031
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)	rs202039659	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_000100.4(CSTB):c.67-1G>C	rs147484110	0.00027
NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln)	rs374943049	0.00026
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)	rs201993443	0.00026
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280	0.00026
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)	rs367930028	0.00026
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)	rs118204057	0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00024
NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His)	rs868845088	0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)	rs541943893	0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00022
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)	rs191233787	0.00021
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)	rs373076763	0.00021
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)	rs141065357	0.00020
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)	rs141638933	0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	rs138011813	0.00020
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_005199.5(CHRNG):c.439C>T (p.Arg147Cys)	rs754928609	0.00019
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)	rs149012859	0.00019
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)	rs190298665	0.00017
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr)	rs533884784	0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)	rs143441644	0.00017
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)	rs142756262	0.00016
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)	rs201139273	0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)	rs141834182	0.00016
NM_007118.4(TRIO):c.7922A>C (p.Lys2641Thr)	rs200539540	0.00016
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser)	rs376756158	0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)	rs201728850	0.00014
NM_001920.5(DCN):c.621T>G (p.Ile207Met)	rs373676217	0.00014
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)	rs397515426	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_174936.4(PCSK9):c.277C>T (p.Arg93Cys)	rs151193009	0.00014
NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser)	rs761479779	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_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)	rs527295360	0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)	rs200587974	0.00013
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu)	rs148502464	0.00012
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)	rs183855575	0.00012
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr)	rs780170292	0.00011
NM_001367479.1(DNAH14):c.9698C>T (p.Ala3233Val)	rs745928222	0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile)	rs201336247	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_017777.4(MKS1):c.1601G>A (p.Arg534Gln)	rs199910690	0.00011
NM_030912.3(TRIM8):c.1456C>G (p.Pro486Ala)	rs552806334	0.00011
NM_000286.3(PEX12):c.681-2A>C	rs187526749	0.00010
NM_000384.3(APOB):c.400G>T (p.Ala134Ser)	rs368321279	0.00010
NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly)	rs140539843	0.00010
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg)	rs368465960	0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)	rs146812823	0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)	rs375817905	0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	rs121908177	0.00010
NM_145886.4(PIDD1):c.2042-2A>G	rs199752248	0.00010
NM_000518.5(HBB):c.93-21G>A	rs35004220	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_015087.5(SPART):c.364_365del (p.Met122fs)	rs775736341	0.00009
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu)	rs200503628	0.00009
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp)	rs573629753	0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val)	rs748273011	0.00008
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_000384.3(APOB):c.2938G>A (p.Ala980Thr)	rs369310292	0.00007
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)	rs200744555	0.00007
NM_002225.5(IVD):c.550+1G>A	rs377147994	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_025114.4(CEP290):c.343A>G (p.Asn115Asp)	rs140236736	0.00007
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)	rs189768576	0.00006
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)	rs200034452	0.00006
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)	rs149306841	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_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser)	rs775566992	0.00006
NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys)	rs369421455	0.00006
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)	rs1003586835	0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)	rs752140135	0.00006
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	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.9448T>C (p.Phe3150Leu)	rs185224477	0.00005
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg)	rs372956200	0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G	rs770046688	0.00005
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)	rs757915171	0.00005
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr)	rs114527197	0.00005
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)	rs143821815	0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	rs375038986	0.00005
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)	rs363802	0.00004
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr)	rs376825639	0.00004
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu)	rs201926213	0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	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_001100913.3(PACS2):c.1072C>T (p.Arg358Trp)	rs1488845742	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_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)	rs372321643	0.00004
NM_001953.5(TYMP):c.1160-1G>A	rs797044455	0.00004
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr)	rs767232021	0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)	rs749249146	0.00004
NM_005045.4(RELN):c.8051G>A (p.Arg2684His)	rs201157987	0.00004
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)	rs775780402	0.00004
NM_019842.4(KCNQ5):c.1312C>G (p.Arg438Gly)	rs750114221	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_000384.3(APOB):c.218C>A (p.Ala73Asp)	rs377171241	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_001083962.2(TCF4):c.466C>A (p.Pro156Thr)	rs200889338	0.00003
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)	rs781864075	0.00003
NM_001148.6(ANK2):c.8417T>C (p.Val2806Ala)	rs769091762	0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)	rs755492444	0.00003
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met)	rs565025643	0.00003
NM_014920.5(CILK1):c.914A>C (p.Lys305Thr)	rs765078446	0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)	rs201476674	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_032634.4(PIGO):c.3118G>A (p.Val1040Ile)	rs149439295	0.00003
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_000384.3(APOB):c.2821A>T (p.Thr941Ser)	rs748256431	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_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)	rs749809456	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_020964.3(EPG5):c.1007A>G (p.Gln336Arg)	rs201757275	0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)	rs140353201	0.00002
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)	rs782062633	0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	rs772226819	0.00001
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)	rs151163582	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_000381.4(MID1):c.1279G>A (p.Val427Ile)	rs755985917	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.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_000844.4(GRM7):c.1973G>A (p.Arg658Gln)	rs769709112	0.00001
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp)	rs1468401006	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.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_004408.4(DNM1):c.1558-3C>T	rs546517702	0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)	rs1447311755	0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp)	rs587777334	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_007118.4(TRIO):c.6725C>T (p.Thr2242Met)	rs55916212	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_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp)	rs1057522661	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_020765.3(UBR4):c.4045C>G (p.Arg1349Gly)	rs776593168	0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	rs764963626	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
NC_000014.9:g.87925163_87956828del
NM_000026.4(ADSL):c.1102-6C>G	rs758666194
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)	rs782122122
NM_000041.4(APOE):c.460C>A (p.Arg154Ser)	rs121918393
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_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
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_000142.5(FGFR3):c.188C>T (p.Pro63Leu)	rs371729802
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)	rs397508090
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	rs606231324
NM_000257.4(MYH7):c.732+1G>A	rs730880850
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_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)	rs538778224
NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys)	rs150312765
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup)	rs777844352
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.649C>T (p.Pro217Ser)	rs573308525
NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile)	rs375053331
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)	rs879254851
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)	rs143872778
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)	rs879254382
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	rs137853964
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
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.4573C>G (p.Gln1525Glu)	rs45517352
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_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_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
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_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr)	rs1555482611
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile)	rs753223319
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln)	rs1038557470
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_001330260.2(SCN8A):c.4441A>G (p.Met1481Val)	rs886041670
NM_001348716.2(KDM6B):c.4737+1G>A	rs2151380267
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys)	rs121908910
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)	rs786204242
NM_001370658.1(BTD):c.1399del (p.Trp467fs)	rs397514423
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1])	rs767952510
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_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_003054.6(SLC18A2):c.710C>A (p.Pro237His)	rs767337086
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)	rs1600388982
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val)	rs1943073751
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala)	rs772169265
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser)	rs1291730464
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)	rs34391522
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660
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_004782.4(SNAP29):c.354dup (p.Leu119fs)	rs751575036
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)	rs1984264748
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)	rs762015967
NM_005413.4(SIX3):c.749T>C (p.Val250Ala)	rs121917880
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)	rs374338349
NM_006005.3(WFS1):c.578dup (p.Gln194fs)	rs779272128
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs)	rs758487568
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)	rs549586181
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_006895.3(HNMT):c.475del (p.His159fs)	rs765863580
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met)	rs2148725999
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)	rs878853282
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)	rs1553252938
NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter)	rs1786845541
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys)	rs1567417422
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)	rs1805737676
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009
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.346C>T (p.Arg116Cys)
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)	rs146646971
NM_020988.3(GNAO1):c.724-8G>A	rs1085307876
NM_024757.5(EHMT1):c.216C>A (p.His72Gln)	rs374930132
NM_025099.6(CTC1):c.248_251dup (p.His84fs)	rs745467709
NM_025114.4(CEP290):c.1624-5T>G	rs142742071
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_145239.3(PRRT2):c.649dup (p.Arg217fs)
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_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
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_205768.3(ZBTB18):c.1207del (p.Arg403fs)	rs2148557361
Single allele
m.14846G>A	rs207459998
m.4284G>A	rs121434468