Variants from Mendelics with conflicting interpretations

Minimum review status of the submission from Mendelics:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Mendelics:	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
6274	3167	8	1781	1418	57	719	3314

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
Mendelics		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	drug response	established risk allele	likely risk allele	pathogenic, low penetrance	risk factor	other
	pathogenic	4	521	178	10	3	1	0	3	3	0	8	10	1
	likely pathogenic	219	2	155	5	3	1	1	0	1	0	1	1	0
	uncertain significance	156	145	0	471	157	2	1	0	2	1	0	5	4
	likely benign	28	10	458	0	517	0	0	0	0	1	0	2	2
	benign	63	28	396	524	2	1	1	2	0	0	0	6	3
	likely risk allele	2	0	2	0	1	0	0	0	0	0	0	2	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	2233	0	555	424	17	190	1186
Illumina Laboratory Services, Illumina	0	589	0	232	243	0	31	506
Counsyl	0	555	0	151	102	1	54	308
GeneDx	0	275	0	46	130	2	33	211
OMIM	0	381	0	33	17	25	119	194
Myriad Genetics, Inc.	0	260	0	92	72	0	18	182
Genome-Nilou Lab	0	620	0	110	40	0	21	171
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	474	0	94	54	0	15	163
Baylor Genetics	0	433	0	87	20	0	33	140
PreventionGenetics, part of Exact Sciences	0	100	0	45	84	0	7	136
Natera, Inc.	0	369	0	78	40	0	17	135
Sharing Clinical Reports Project (SCRP)	0	84	0	85	22	0	3	110
Breast Cancer Information Core (BIC) (BRCA2)	0	54	0	12	92	0	6	110
CeGaT Center for Human Genetics Tuebingen	0	87	0	38	53	0	13	104
Ambry Genetics	0	261	0	29	47	0	26	102
Revvity Omics, Revvity	0	166	0	38	26	0	23	87
Genetic Services Laboratory, University of Chicago	0	69	0	26	57	0	3	86
Quest Diagnostics Nichols Institute San Juan Capistrano	0	75	0	17	67	0	1	85
Institute of Human Genetics, University of Leipzig Medical Center	0	153	0	43	26	2	14	85
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	101	0	82	0	0	0	82
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	72	0	61	19	0	2	82
Breast Cancer Information Core (BIC) (BRCA1)	0	30	0	6	58	0	8	72
Fulgent Genetics, Fulgent Genetics	0	199	0	54	12	0	2	68
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	72	0	64	0	1	2	67
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	106	0	33	25	0	8	66
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	110	0	45	16	0	1	62
Color Diagnostics, LLC DBA Color Health	0	69	0	31	16	0	3	50
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	68	0	41	3	0	1	45
Department of Pathology and Laboratory Medicine, Sinai Health System	0	44	0	14	23	3	3	43
MGZ Medical Genetics Center	0	89	0	23	8	0	11	42
Eurofins Ntd Llc (ga)	0	42	0	8	28	1	5	42
CSER _CC_NCGL, University of Washington	0	17	0	16	22	0	2	40
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	12	0	6	25	0	9	40
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	106	0	18	7	0	13	38
BRCAlab, Lund University	0	43	0	33	5	0	0	38
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	77	0	18	15	1	3	37
Michigan Medical Genetics Laboratories, University of Michigan	0	26	0	34	2	0	0	36
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	23	0	2	33	0	0	35
Sema4, Sema4	0	57	0	21	11	0	1	33
Mayo Clinic Laboratories, Mayo Clinic	0	23	0	2	26	0	5	33
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	48	0	14	8	0	10	32
3billion	0	116	0	24	0	0	7	31
Johns Hopkins Genomics, Johns Hopkins University	0	86	0	15	5	0	10	30
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	43	0	14	3	0	11	28
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	7	0	1	24	0	2	27
Pathway Genomics	0	37	0	23	2	0	1	26
Genetics and Molecular Pathology, SA Pathology	0	60	0	15	5	0	5	25
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	44	0	14	0	0	9	23
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	15	0	8	11	0	3	22
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	29	0	8	3	0	11	22
SIB Swiss Institute of Bioinformatics	0	14	0	14	5	0	3	22
Athena Diagnostics Inc	0	23	0	7	9	0	5	21
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	16	0	6	10	0	5	21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	101	0	12	6	0	3	21
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	20	0	6	13	0	1	20
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	38	0	13	7	0	0	20
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	12	1	5	13	0	0	19
Genomics England Pilot Project, Genomics England	0	13	0	14	0	0	5	19
Department of Medical and Surgical Sciences, University of Bologna	0	6	0	6	11	0	1	18
NIHR Bioresource Rare Diseases, University of Cambridge	0	8	0	12	0	2	3	17
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	29	0	13	1	0	3	17
GeneReviews	0	227	4	1	0	0	11	16
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	70	0	7	9	0	0	16
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	57	0	11	0	0	4	15
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	28	0	5	7	0	3	15
New York Genome Center	0	27	0	6	5	1	3	15
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	32	0	11	0	0	2	13
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	6	0	8	5	0	0	13
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	14	0	0	12	0	0	12
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto	0	20	0	10	2	0	0	12
Centogene AG - the Rare Disease Company	0	35	0	4	0	0	7	11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	10	0	1	10	0	0	11
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	20	0	4	4	0	3	11
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	0	25	2	7	0	0	1	10
Reproductive Health Research and Development, BGI Genomics	0	38	0	4	4	0	2	10
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	8	0	4	2	0	4	10
DASA	0	52	0	9	0	0	1	10
Institute of Medical Molecular Genetics, University of Zurich	0	1	0	6	0	0	3	9
Clinical Genetics, Academic Medical Center	0	19	0	4	4	0	1	9
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	0	1	6	0	0	2	9
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	29	0	8	0	0	1	9
Leiden Open Variation Database	0	15	0	5	3	0	1	9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	23	0	6	0	2	1	9
Clingen PTEN Variant Curation Expert Panel, Clingen	0	3	0	4	4	0	1	9
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	4	0	6	0	0	2	8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	18	0	7	0	1	0	8
LDLR-LOVD, British Heart Foundation	0	5	0	5	2	0	1	8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	26	0	6	0	0	2	8
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	2	0	1	2	0	5	8
University of Washington Department of Laboratory Medicine, University of Washington	0	9	0	5	2	0	1	8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	18	0	3	2	0	3	8
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	46	0	3	1	0	3	7
Division of Human Genetics, Children's Hospital of Philadelphia	0	15	0	4	0	0	3	7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	6	0	2	0	0	5	7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	5	0	3	4	0	0	7
Undiagnosed Diseases Network, NIH	0	21	0	3	1	0	3	7
SingHealth Duke-NUS Institute of Precision Medicine	0	1	0	0	5	0	2	7
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	22	0	5	1	0	1	7
Pars Genome Lab	0	13	0	2	1	0	4	7
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	8	0	3	1	0	3	7
UCLA Clinical Genomics Center, UCLA	0	1	0	3	0	0	3	6
Robarts Research Institute, Western University	0	0	0	6	0	0	0	6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	13	0	4	0	0	2	6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	18	0	6	0	0	0	6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	20	0	4	0	0	2	6
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	3	0	2	0	0	4	6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	17	0	5	0	0	1	6
CFTR-France	0	104	0	2	0	0	4	6
Molecular Biology Laboratory, Fundació Puigvert	0	2	0	5	0	0	1	6
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	0	12	0	1	4	0	1	6
Dunham Lab, University of Washington	0	23	0	3	0	0	3	6
Clinical Biochemistry Laboratory, Health Services Laboratory	0	2	0	1	4	0	0	5
PharmGKB	0	0	0	0	0	5	0	5
University of Washington Center for Mendelian Genomics, University of Washington	0	0	0	3	0	0	2	5
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	0	15	0	2	3	0	0	5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	3	0	1	3	0	1	5
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	3	0	3	0	0	2	5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	24	0	2	2	0	1	5
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	0	2	0	0	5	0	0	5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	13	0	1	1	0	3	5
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London	0	3	0	3	1	0	1	5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	17	0	4	0	0	1	5
Lifecell International Pvt. Ltd	0	17	0	2	1	0	2	5
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen	0	0	0	4	0	0	1	5
Molecular Genetics, Royal Melbourne Hospital	0	12	0	3	1	0	1	5
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	1	0	4	5
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen	0	2	0	4	1	0	0	5
King Laboratory, University of Washington	0	3	0	1	0	0	3	4
Clinical Genomics Laboratory, Washington University in St. Louis	0	4	0	2	1	1	0	4
Center for Medical Genetics Ghent, University of Ghent	0	3	0	1	3	0	0	4
Medical Genetics, University of Parma	0	4	0	3	1	0	0	4
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	0	10	0	1	3	0	0	4
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	5	0	1	2	0	1	4
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	7	0	0	1	0	3	4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	8	0	2	1	0	1	4
Ding PR Lab, Sun Yat-sen University Cancer Center	0	0	0	0	4	0	0	4
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	0	0	0	0	0	0	4	4
Suma Genomics	0	9	0	0	0	0	4	4
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	5	0	1	0	1	2	4
Human Genetics Bochum, Ruhr University Bochum	0	5	0	3	0	0	1	4
Giacomini Lab, University of California, San Francisco	0	0	0	1	0	0	3	4
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	2	0	1	0	0	2	3
Elsea Laboratory, Baylor College of Medicine	0	3	0	0	0	0	3	3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	7	0	0	0	1	2	3
Blueprint Genetics	0	7	0	1	0	1	1	3
PXE International	0	1	0	1	0	0	2	3
National Institute of Mental Health and Neurosciences	0	0	0	0	0	0	3	3
Laboratory of Human Genetics, Universidade de São Paulo	0	0	0	3	0	0	0	3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	11	0	1	0	0	2	3
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	1	0	3	0	0	0	3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	14	0	1	1	0	1	3
Department of Medical Genetics, University Hospital of North Norway	0	6	0	2	1	0	0	3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	0	0	1	0	2	3
Institute of Human Genetics, University Hospital of Duesseldorf	0	5	0	2	0	0	1	3
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	3	0	1	0	0	2	3
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	1	0	2	0	0	1	3
Iberoamerican FH Network	0	1	0	2	1	0	0	3
Sharon lab, Hadassah-Hebrew University Medical Center	0	8	0	2	0	0	1	3
True Health Diagnostics	0	15	0	0	3	0	0	3
ClinGen PAH Variant Curation Expert Panel	0	4	0	2	1	0	0	3
Ocular Genomics Institute, Massachusetts Eye and Ear	0	11	0	3	0	0	0	3
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	3	0	2	0	0	1	3
Codex Genetics Limited	0	1	0	0	0	0	3	3
Clinical Genomics Program, Stanford Medicine	0	12	0	1	0	0	2	3
Institute of Human Genetics, University Hospital Muenster	0	5	0	1	1	0	1	3
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	8	0	2	0	0	1	3
Genetics Program, Instituto Nacional de Cancer	0	23	0	1	2	0	0	3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	3	0	1	0	1	1	3
Molecular Endocrinology Laboratory, Christian Medical College	0	1	0	0	3	0	0	3
Eurofins-Biomnis	0	3	0	1	0	0	2	3
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	7	0	1	0	0	2	3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	4	0	0	1	0	1	2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	1	0	2	0	0	0	2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	4	0	2	0	0	0	2
Institute of Human Genetics, Medical University Innsbruck	0	4	0	2	0	0	0	2
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	0	0	0	2	0	0	0	2
CFTR2	0	114	0	2	0	0	0	2
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University	0	0	0	0	0	0	2	2
Molecular Genetics and Enzymology, National Research Centre	0	0	0	0	2	0	0	2
Department of Ophthalmology and Visual Sciences Kyoto University	0	0	0	2	0	0	0	2
Department of Medical Genetics, Oslo University Hospital	0	9	0	1	0	0	1	2
Chan Lab, Boston Children's Hospital	0	0	0	0	0	0	2	2
Service de Génétique Moléculaire, Hôpital Robert Debré	0	1	0	1	1	0	0	2
Duke University Health System Sequencing Clinic, Duke University Health System	0	2	0	1	0	0	1	2
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	0	0	0	2	2
Department of Internal Medicine, University of Texas Health Science Center at Houston	0	0	0	2	0	0	0	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	4	0	1	0	1	0	2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	4	0	2	0	0	0	2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	5	0	0	0	0	2	2
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	1	0	2	0	0	0	2
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	1	0	0	0	0	2	2
Fundacion Hipercolesterolemia Familiar	0	3	0	1	1	0	0	2
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital	0	4	0	1	0	0	1	2
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	0	65	0	2	0	0	0	2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital	0	1	0	0	2	0	0	2
Institute for Genomic Medicine, Nationwide Children's Hospital	0	0	0	0	0	0	2	2
Laboratory of Medical Genetics, University of Torino	0	2	0	2	0	0	0	2
Institute of Human Genetics, Heidelberg University	0	1	0	2	0	0	0	2
deCODE genetics, Amgen	0	3	0	2	0	0	0	2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	0	0	2	0	0	0	2
Molecular Diagnosis Center for Deafness	0	1	0	0	1	0	1	2
AiLife Diagnostics, AiLife Diagnostics	0	5	0	0	2	0	0	2
Molecular Pathology Research Laboratory, SA Pathology	0	0	0	2	0	0	0	2
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	0	0	1	0	0	1	2
Bioinformatics Unit, Institut Pasteur de Montevideo	0	0	0	2	0	0	0	2
Laboratory of Molecular and Cellular Biology, University of Science and Technology Houari Boumediene	0	4	0	2	0	0	0	2
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen	0	2	0	2	0	0	0	2
ClinGen FBN1 Variant Curation Expert Panel, ClinGen	0	2	0	2	0	0	0	2
Arcensus	0	3	0	2	0	0	0	2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	5	0	2	0	0	0	2
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel	0	1	0	2	0	0	0	2
Cohesion Phenomics	0	2	0	2	0	0	0	2
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories	0	0	0	1	0	0	0	1
Claritas Genomics	0	0	0	0	1	0	0	1
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine	0	0	0	0	0	0	1	1
Institute for Human Genetics, University Medical Center Freiburg	0	0	0	1	0	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	2	0	1	0	0	0	1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	1	0	0	0	1	0	1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	10	0	1	0	0	0	1
Bristol Genetics Laboratory, North Bristol NHS Trust	0	0	0	1	0	0	0	1
Molecular Vision Laboratory	0	0	0	0	0	1	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	0	10	0	0	0	0	1	1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research	0	2	0	0	1	0	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	30	0	0	0	0	1	1
Familial Cancer Clinic, Veneto Institute of Oncology	0	0	0	1	0	0	0	1
GenMed Metabolism Lab	0	0	0	0	0	0	1	1
RettBASE	0	5	0	0	0	0	1	1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	0	0	0	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	1	0	0	0	0	1	1
Unidad de Estudios Geneticos y Forenses, Instituto Venezolano de Investigaciones Cientificas	0	0	0	0	0	0	1	1
CHU Sainte-Justine Research Center, University of Montreal	0	0	0	1	0	0	0	1
Department of Molecular and Human Genetics, Baylor College of Medicine	0	0	0	0	0	0	1	1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	0	0	1	0	0	0	1
Pediatric Services, National Institutes of Health, Clinical Center	0	0	0	0	1	0	0	1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília	0	0	0	0	0	0	1	1
Hadassah Hebrew University Medical Center	0	2	0	0	0	0	1	1
Colorectal Cancer Research Lab, Singapore General Hospital	0	0	0	0	0	0	1	1
Russ Altman Lab, Stanford University	0	0	0	0	0	1	0	1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	0	1	0	0	1	0	0	1
Aziz Sancar Institute of Experimental Medicine, Istanbul University	0	0	0	0	0	0	1	1
Cardiovascular Biomarker Research Laboratory, Mayo Clinic	0	0	0	0	1	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	6	0	1	0	0	0	1
Neurogenetics Laboratory, GH Pitie Salpetriere APHP	0	0	0	1	0	0	0	1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	0	1	0	0	1	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	6	0	1	0	0	0	1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	0	1	0	1	0	0	0	1
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	3	0	1	0	0	0	1
Database of Curated Mutations (DoCM)	0	5	0	0	0	0	1	1
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo	0	0	0	0	0	0	1	1
Department of Medical Genetics, Gazi University	0	0	0	1	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	7	0	1	0	0	0	1
Bruce Lefroy Centre, Murdoch Childrens Research Institute	0	0	0	1	0	0	0	1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris	0	0	0	1	0	0	0	1
UMR-S1161, Institut national de la santé et de la recherche médicale	0	0	0	1	0	0	0	1
Yale Center for Mendelian Genomics, Yale University	0	1	0	1	0	0	0	1
Wangler Lab, Baylor College of Medicine	0	0	0	1	0	0	0	1
Laboratory of Jean-Laurent Casanova, The Rockefeller University	0	0	0	1	0	0	0	1
Molecular Oncology Laboratory, Hospital Clínico San Carlos	0	3	0	1	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	1	0	0	0	0	1	1
Department of Immunology, University Hospital Southampton NHSFT	0	0	0	1	0	0	0	1
Tolun Lab, Human Genetics Laboratory, Bogazici University	0	0	0	0	1	0	0	1
Human Molecular Genetics Laboratory, Federal University of Parana	0	0	0	1	0	0	0	1
Hemoglobin and Genome Lab, University of Campinas	0	0	0	1	0	0	0	1
Inherited Neuropathy Consortium	0	0	0	0	1	0	0	1
Cipher Gene Genetics Laboratory, Cipher Gene, Inc	0	0	0	1	0	0	0	1
Variantyx, Inc.	0	2	0	0	0	1	0	1
College of Science, Al Muthanna University, Al Muthanna University	0	0	0	1	0	0	0	1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	0	2	0	0	0	0	1	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	1	0	1	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	3	0	1	0	0	0	1
Lab. Molecular Oncology, VUB, Free University of Brussels	0	0	0	0	1	0	0	1
Gharavi Laboratory, Columbia University	0	2	0	0	1	0	0	1
Cavalleri Lab, Royal College of Surgeons in Ireland	0	5	0	0	0	0	1	1
Breda Genetics srl	0	4	0	1	0	0	0	1
Institute of Reproductive Genetics, University of Münster	0	0	0	0	0	0	1	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	0	3	0	1	0	0	0	1
Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology	0	0	0	0	1	0	0	1
University of Iowa Renal Genetics Clinic, University of Iowa	0	0	0	0	1	0	0	1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	1	0	1	0	0	0	1
Institute for Human Genetics, University Hospital Essen	0	0	0	1	0	0	0	1
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research	0	0	0	0	1	0	0	1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico	0	0	0	0	0	0	1	1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	0	0	1	0	0	1
NxGen MDx	0	1	0	0	0	0	1	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	5	0	0	0	0	1	1
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	0	1	0	1	0	0	0	1
Department of Medical Genomics, Royal Prince Alfred Hospital	0	0	0	0	1	0	0	1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	2	0	1	0	0	0	1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas	0	0	0	0	1	0	0	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	2	0	0	1	0	0	1
Division of Medical Genetics, University of Washington	0	8	0	0	0	0	1	1
Children's Cancer Therapy Development Institute	0	0	0	0	0	0	1	1
Clinical Genetics Laboratory, Skane University Hospital Lund	0	1	0	1	0	0	0	1
Genomics Facility, Ludwig-Maximilians-Universität München	0	3	0	1	0	0	0	1
Center of Excellence for Medical Genomics, Chulalongkorn University	0	3	0	1	0	0	0	1
Medical Genetics Laboratory, Tarbiat Modares University	0	0	0	0	0	0	1	1
CeMIA	0	0	0	0	1	0	0	1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	0	0	1	0	0	0	1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	0	0	0	0	1	0	0	1
Constitutional Genetics Lab, Leon Berard Cancer Center	0	0	0	0	1	0	0	1
Precision Medicine Center, Zhengzhou University	0	0	0	0	0	0	1	1
Allergy Immunology Laboratory, Postgraduate Institute of Medical Education and Research, Chandigarh	0	0	0	1	0	0	0	1
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital	0	0	0	1	0	0	0	1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	0	0	0	0	0	1	1
Pediatric Genetics Clinic, Sheba Medical Center	0	0	0	1	0	0	0	1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	5	0	1	0	0	0	1
DBGen Ocular Genomics	0	4	0	1	0	0	0	1
Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul	0	1	0	0	0	0	1	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	5	0	0	0	0	1	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	0	0	1	0	0	0	1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto	0	0	0	0	0	0	1	1
H3Africa Consortium	0	1	0	1	0	0	0	1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi	0	0	0	0	0	0	1	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	2	0	1	0	0	0	1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen	0	0	0	0	1	0	0	1
Cancer Genomics Lab, PINUM Cancer Hospital	0	0	0	1	0	0	0	1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital	0	0	0	0	0	0	1	1
Molecular Genetic Pathology Unit, University Of Rochester Medical Center	0	0	0	0	0	0	1	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	0	0	0	0	0	1	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	2	0	1	0	0	0	1
Department of Pediatrics, ShengJing Hospital of China Medical University	0	0	0	1	0	0	0	1
Genomics And Bioinformatics Analysis Resource, Columbia University	0	9	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
Centre for Population Genomics, CPG	0	9	0	1	0	0	0	1
DECIPHERD-UDD, Universidad del Desarrollo	0	0	0	0	1	0	0	1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	0	2	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.315+16G>C	rs10768683	0.82893
NM_002185.5(IL7R):c.412G>A (p.Val138Ile)	rs1494555	0.72524
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)	rs1494558	0.68368
NM_000376.3(VDR):c.2T>C (p.Met1Thr)	rs2228570	0.66221
NM_000159.4(GCDH):c.*165A>G	rs8012	0.64188
NM_001308093.3(GATA4):c.1000+56C>A	rs804280	0.61291
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)	rs398607	0.49946
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu)	rs1135688	0.47045
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)	rs1055138	0.46276
NM_001202.6(BMP4):c.455T>C (p.Val152Ala)	rs17563	0.44424
NM_006005.3(WFS1):c.1832G>A (p.Arg611His)	rs734312	0.43085
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)	rs1169288	0.35489
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)	rs2729509	0.34286
NM_000159.4(GCDH):c.*288G>T	rs9384	0.33464
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)	rs197922	0.32616
NM_000159.4(GCDH):c.852+223C>T	rs11085825	0.30906
NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)	rs486907	0.28062
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg)	rs1801265	0.27966
NM_000140.5(FECH):c.68-23C>T	rs2269219	0.27629
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)	rs34787999	0.25357
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)	rs1805124	0.24768
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile)	rs35767802	0.24762
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	rs1042602	0.24593
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	rs144848	0.23116
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)	rs2238472	0.22903
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)	rs6720173	0.21159
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)	rs1799958	0.20617
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)	rs2071421	0.19530
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)	rs1042821	0.18742
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	rs1126809	0.18094
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)	rs11558492	0.15938
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)	rs4426527	0.15412
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)	rs1566734	0.14574
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)	rs36094464	0.14530
NM_001142864.4(PIEZO1):c.2992-23A>G	rs76070043	0.14300
NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly)	rs2266780	0.14140
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn)	rs77419724	0.13676
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)	rs2229385	0.10476
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000251.3(MSH2):c.1511-9A>T	rs12998837	0.09123
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_006206.6(PDGFRA):c.2323+1120C>T	rs2291591	0.08547
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)	rs6092	0.07905
NM_001395413.1(POR):c.6A>G (p.Gly2=)	rs10262966	0.07713
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07150
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)	rs73885319	0.06773
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met)	rs17279437	0.06722
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)	rs60910145	0.06710
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)	rs12483377	0.06693
NM_022437.3(ABCG8):c.55G>C (p.Asp19His)	rs11887534	0.06566
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06200
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)	rs11258194	0.05969
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn)	rs1800435	0.05916
NM_000487.6(ARSA):c.*96A>G	rs6151429	0.05120
NM_000130.5(F5):c.3980A>G (p.His1327Arg)	rs1800595	0.05074
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)	rs5036	0.05002
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter)	rs16910526	0.04986
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala)	rs61744404	0.04318
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	rs1801466	0.04126
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)	rs45583140	0.04021
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala)	rs36117895	0.03931
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03880
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)	rs6336	0.03696
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_002283.4(KRT85):c.233G>A (p.Arg78His)	rs61630004	0.03613
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)	rs4988321	0.03472
NM_001308.3(CPN1):c.533G>A (p.Gly178Asp)	rs61751507	0.03433
NM_001710.6(CFB):c.26T>A (p.Leu9His)	rs4151667	0.03314
NM_000063.6(C2):c.954G>C (p.Glu318Asp)	rs9332739	0.03307
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)	rs1800556	0.03280
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)	rs35520756	0.03206
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02950
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)	rs35383149	0.02935
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)	rs61750126	0.02895
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)	rs5030739	0.02886
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)	rs1800328	0.02868
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)	rs7334118	0.02828
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)	rs2228063	0.02817
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	rs61747728	0.02796
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)	rs35947132	0.02791
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)	rs34526199	0.02732
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)	rs35077384	0.02717
NM_001083116.3(PRF1):c.11G>A (p.Arg4His)	rs35418374	0.02616
NM_000618.5(IGF1):c.*263T>A	rs70961704	0.02615
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	rs1801248	0.02598
NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser)	rs61746355	0.02504
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)	rs36070315	0.02463
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)	rs726070	0.02339
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)	rs61733458	0.02154
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)	rs11555096	0.02131
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	rs3743930	0.02112
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)	rs111784356	0.02010
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)	rs11934801	0.01974
NM_001393392.1(AKR1C2):c.666T>C (p.His222=)	rs13222	0.01890
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	rs2235000	0.01889
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_000453.3(SLC5A5):c.-54C>T	rs112077649	0.01822
NM_000500.9(CYP21A2):c.*13G>A	rs6447	0.01770
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser)	rs752071055	0.01748
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)	rs146934311	0.01744
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)	rs45551636	0.01717
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)	rs41278174	0.01708
NM_000176.3(NR3C1):c.66G>A (p.Glu22=)	rs6189	0.01685
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val)	rs35910969	0.01664
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)	rs80194531	0.01629
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)	rs76947760	0.01629
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His)	rs36220239	0.01611
NM_000552.5(VWF):c.5049A>C (p.Ala1683=)	rs79275181	0.01607
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)	rs17472401	0.01606
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)	rs17592	0.01574
NM_172351.3(CD46):c.1013C>T (p.Ala338Val)	rs35366573	0.01505
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	rs1800362	0.01494
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)	rs41272687	0.01478
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)	rs1800057	0.01452
NM_000492.4(CFTR):c.*1043A>C	rs10234329	0.01452
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01450
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)	rs6262	0.01372
NM_000064.4(C3):c.1407G>C (p.Glu469Asp)	rs11569422	0.01362
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)	rs1799967	0.01348
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)	rs268	0.01327
NM_006883.2(SHOX):c.653G>A (p.Arg218His)	rs193072890	0.01306
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)	rs7958709	0.01289
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala)	rs34396614	0.01268
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)	rs76116949	0.01253
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)	rs5736	0.01206
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)	rs4149584	0.01206
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	rs35976361	0.01187
NM_000250.2(MPO):c.995C>T (p.Ala332Val)	rs28730837	0.01176
NM_000249.4(MLH1):c.1039-8T>A	rs193922367	0.01153
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)	rs45562031	0.01150
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)	rs35312232	0.01146
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)	rs41302073	0.01144
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)	rs4986852	0.01109
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met)	rs34777958	0.01090
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)	rs28936670	0.01082
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)	rs112239768	0.01081
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)	rs75831552	0.01062
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	rs1800730	0.01042
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)	rs145643112	0.01037
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr)	rs104894767	0.01035
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)	rs35523678	0.01028
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)	rs201168448	0.01022
NM_000250.2(MPO):c.752T>C (p.Met251Thr)	rs56378716	0.00999
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)	rs9378252	0.00995
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00994
NM_001360.3(DHCR7):c.99-4G>A	rs140748737	0.00988
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)	rs41297018	0.00964
NM_005138.3(SCO2):c.776C>T (p.Ala259Val)	rs8139305	0.00949
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)	rs3739168	0.00946
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)	rs116474260	0.00939
NM_021939.4(FKBP10):c.917+53G>T	rs141387386	0.00927
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)	rs2230180	0.00920
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu)	rs143195893	0.00899
NM_000492.4(CFTR):c.1210-11T>G	rs73715573	0.00886
NM_000211.5(ITGB2):c.329-6C>T	rs9983887	0.00876
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)	rs62621875	0.00869
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val)	rs77010315	0.00869
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)	rs111326315	0.00867
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)	rs63750123	0.00861
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)	rs61761068	0.00859
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)	rs5030672	0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)	rs75937132	0.00847
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)	rs121908147	0.00835
NM_000327.4(ROM1):c.868del (p.Gln290fs)	rs548233813	0.00807
NM_004628.5(XPC):c.1001C>A (p.Pro334His)	rs74737358	0.00806
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	rs17107315	0.00797
NM_004577.4(PSPH):c.650T>C (p.Val217Ala)	rs73343752	0.00788
NM_002693.3(POLG):c.3561G>C (p.Arg1187=)	rs62640037	0.00787
NM_002900.3(RBP3):c.1037G>A (p.Arg346His)	rs111245635	0.00786
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)	rs17089782	0.00771
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)	rs114402911	0.00770
NM_000051.4(ATM):c.544G>C (p.Val182Leu)	rs3218707	0.00757
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)	rs114207045	0.00755
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)	rs187587197	0.00751
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile)	rs147895473	0.00739
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)	rs12324002	0.00737
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)	rs3738888	0.00736
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)	rs116192290	0.00735
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)	rs72648927	0.00729
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)	rs115014558	0.00719
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)	rs55728855	0.00718
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)	rs143004808	0.00716
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	rs117125761	0.00708
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg)	rs115611153	0.00704
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr)	rs138353181	0.00700
NM_001387430.1(SH2B1):c.1988C>T (p.Ala663Val)	rs190981290	0.00699
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)	rs1801316	0.00694
NM_005148.4(UNC119):c.65G>T (p.Gly22Val)	rs199714731	0.00691
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)	rs115045643	0.00681
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro)	rs118020901	0.00680
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg)	rs144534810	0.00679
NM_001395656.1(ROBO2):c.1556A>T (p.Asn519Ile)	rs80051448	0.00662
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)	rs12735723	0.00660
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)	rs140029076	0.00658
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	rs62642564	0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)	rs28763954	0.00654
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)	rs28363317	0.00653
NM_001190274.2(FBXO11):c.*1173A>T	rs2020906	0.00645
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)	rs80340744	0.00645
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)	rs146578303	0.00633
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	rs74653330	0.00630
NM_199242.3(UNC13D):c.753+3G>A	rs116229331	0.00627
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu)	rs62642528	0.00626
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly)	rs4151539	0.00623
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)	rs115232898	0.00622
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)	rs144080386	0.00620
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)	rs114819130	0.00617
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)	rs62625033	0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)	rs28897727	0.00609
NM_000368.5(TSC1):c.2626-3C>T	rs1060503192	0.00608
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)	rs11545035	0.00605
NM_017950.4(CCDC40):c.2832+466_2832+467del	rs570440845	0.00603
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)	rs11571833	0.00597
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)	rs28940884	0.00596
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)	rs148355156	0.00591
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)	rs142645936	0.00585
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter)	rs141784184	0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=)	rs72541809	0.00583
NM_017693.4(BIVM):c.244A>G (p.Ile82Val)	rs41281670	0.00583
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)	rs11540832	0.00574
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu)	rs4149637	0.00574
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	rs34911792	0.00573
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)	rs1801166	0.00570
NM_000321.3(RB1):c.2521-11G>A	rs4151624	0.00570
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)	rs35462421	0.00570
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)	rs2020908	0.00565
NM_153252.5(BRWD3):c.2325+5G>A	rs186391561	0.00565
NM_000132.4(F8):c.1508G>A (p.Arg503His)	rs35383156	0.00563
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)	rs140649	0.00561
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp)	rs55840049	0.00551
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)	rs111475461	0.00551
NM_004960.4(FUS):c.*41G>A	rs80301724	0.00551
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)	rs5738	0.00548
NM_024589.3(ROGDI):c.713G>A (p.Arg238His)	rs138409264	0.00548
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)	rs11554495	0.00545
NM_000321.3(RB1):c.2490-45A>G	rs4151610	0.00540
NM_001308093.3(GATA4):c.912+25G>A	rs147860174	0.00539
NM_000374.5(UROD):c.952G>A (p.Gly318Arg)	rs116233118	0.00531
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)	rs61742739	0.00531
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	rs6445	0.00530
NM_000374.5(UROD):c.758T>A (p.Leu253Gln)	rs36033115	0.00527
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	rs147099630	0.00521
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	rs121908515	0.00521
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys)	rs76956231	0.00520
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_005105.5(RBM8A):c.67+32G>C	rs201779890	0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)	rs145847315	0.00517
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	rs61752783	0.00516
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)	rs35795890	0.00513
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)	rs45589337	0.00513
NM_058216.3(RAD51C):c.572-17G>T	rs193023469	0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	rs1800361	0.00511
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)	rs74315394	0.00508
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)	rs1799816	0.00500
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)	rs142934616	0.00496
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)	rs141268327	0.00496
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	rs144979397	0.00495
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)	rs121908954	0.00491
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)	rs28362261	0.00485
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)	rs41308846	0.00484
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)	rs34134328	0.00483
NM_015278.5(SASH1):c.3084C>A (p.Ser1028Arg)	rs140316955	0.00478
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln)	rs35086265	0.00477
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)	rs61756466	0.00471
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)	rs145191932	0.00466
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)	rs62295357	0.00465
NM_001061.7(TBXAS1):c.480C>A (p.Asp160Glu)	rs5768	0.00465
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	rs35731153	0.00463
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)	rs113964173	0.00462
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)	rs145522204	0.00460
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala)	rs143730975	0.00459
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile)	rs143872329	0.00456
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr)	rs150797491	0.00455
NM_006567.5(FARS2):c.737C>T (p.Thr246Met)	rs116567033	0.00455
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg)	rs55654276	0.00452
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)	rs61734561	0.00451
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)	rs45624036	0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)	rs2020912	0.00448
NM_001109878.2(TBX22):c.176-13C>A	rs55760411	0.00447
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)	rs113806080	0.00446
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	rs147346345	0.00446
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile)	rs34987632	0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)	rs34957318	0.00444
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)	rs145770066	0.00443
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	rs1801673	0.00441
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)	rs143759519	0.00440
NM_013337.4(TIMM22):c.97G>C (p.Val33Leu)	rs149879547	0.00440
NM_000059.4(BRCA2):c.7008-62A>G	rs76584943	0.00439
NM_000057.4(BLM):c.4076+4T>G	rs183176301	0.00436
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)	rs35026927	0.00435
NM_000179.3(MSH6):c.457+13A>G	rs1800933	0.00434
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	rs2227922	0.00431
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)	rs74085882	0.00430
NM_000312.4(PROC):c.399C>T (p.Arg133=)	rs200045749	0.00427
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)	rs111033481	0.00424
NM_181486.4(TBX5):c.787G>A (p.Val263Met)	rs147405081	0.00423
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)	rs72681869	0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp)	rs55985569	0.00420
NM_000132.4(F8):c.2994T>G (p.His998Gln)	rs149853218	0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)	rs28897689	0.00419
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)	rs12749581	0.00417
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)	rs78795178	0.00417
NM_000038.6(APC):c.933+30A>G	rs145211300	0.00412
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu)	rs115596276	0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)	rs34997054	0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)	rs36215895	0.00411
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)	rs75280988	0.00410
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)	rs62185645	0.00410
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His)	rs201012766	0.00405
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_001478.5(B4GALNT1):c.*2667C>T	rs113207856	0.00400
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)	rs61732239	0.00399
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)	rs35001569	0.00399
NM_006432.5(NPC2):c.441+1G>A	rs140130028	0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)	rs112306990	0.00398
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)	rs121434437	0.00398
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)	rs146882581	0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)	rs28940272	0.00396
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu)	rs111327589	0.00395
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)	rs147452898	0.00394
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)	rs141245482	0.00392
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)	rs149101394	0.00391
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln)	rs150814749	0.00390
NM_000130.5(F5):c.3845A>G (p.His1282Arg)	rs143333036	0.00389
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)	rs111966833	0.00389
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)	rs121909293	0.00386
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)	rs77357563	0.00382
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	rs104894619	0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)	rs72650011	0.00378
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)	rs143240262	0.00376
NM_000327.4(ROM1):c.686G>A (p.Arg229His)	rs150168119	0.00375
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)	rs201472270	0.00373
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)	rs148999583	0.00372
NM_000190.4(HMBS):c.-28A>C	rs201349602	0.00371
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)	rs141756032	0.00371
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)	rs45517932	0.00371
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)	rs143037290	0.00369
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)	rs2228980	0.00365
NM_004260.4(RECQL4):c.1704+9C>T	rs35876881	0.00365
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	rs61752784	0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00363
NM_002892.4(ARID4A):c.3211+1G>A	rs62621193	0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)	rs4988345	0.00363
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	rs1800368	0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)	rs148206382	0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)	rs137853909	0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)	rs72541816	0.00358
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)	rs12713843	0.00356
NM_001453.3(FOXC1):c.*734A>T	rs35717904	0.00356
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)	rs25409	0.00354
NM_002907.4(RECQL):c.1483G>C (p.Asp495His)	rs6499	0.00353
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu)	rs141735896	0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	rs115545701	0.00350
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)	rs61758784	0.00349
NM_025152.3(NUBPL):c.815-27T>C	rs118161496	0.00348
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His)	rs117612144	0.00347
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)	rs201370621	0.00344
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)	rs150925674	0.00340
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	rs147077184	0.00338
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	rs11971167	0.00338
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)	rs116131367	0.00337
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)	rs139600783	0.00337
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	rs121909046	0.00335
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp)	rs114251396	0.00335
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)	rs34819316	0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)	rs116908219	0.00333
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)	rs138925964	0.00331
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile)	rs143898031	0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)	rs34589476	0.00327
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg)	rs35488756	0.00320
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)	rs41511151	0.00318
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val)	rs142653846	0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)	rs71534278	0.00318
NM_005560.6(LAMA5):c.4405T>G (p.Ser1469Ala)	rs144009130	0.00316
NM_001013836.2(MAD1L1):c.175C>T (p.Arg59Cys)	rs121908982	0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=)	rs35898375	0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)	rs143543800	0.00313
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)	rs132630309	0.00312
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)	rs34165480	0.00311
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)	rs35187787	0.00311
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)	rs114973968	0.00309
NM_006493.4(CLN5):c.-87C>T	rs200353554	0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	rs28935490	0.00308
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	rs41292677	0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)	rs56268439	0.00308
NM_001182.4(ALDH7A1):c.-80T>G	rs563928852	0.00308
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	rs187043152	0.00306
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)	rs146920285	0.00306
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	rs17887014	0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)	rs4988346	0.00305
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	rs149989682	0.00304
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)	rs55688530	0.00301
NM_001048174.2(MUTYH):c.1103-27C>T	rs3219490	0.00300
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)	rs114402678	0.00300
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)	rs55907433	0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)	rs28897724	0.00295
NM_000128.4(F11):c.1304+12G>A	rs116667976	0.00295
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)	rs104894825	0.00295
NM_000492.4(CFTR):c.4242+13A>G	rs76179227	0.00295
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)	rs112464110	0.00293
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)	rs61995713	0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)	rs11571657	0.00288
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)	rs56342240	0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)	rs45568339	0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	rs148932323	0.00287
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)	rs28932472	0.00286
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)	rs61754061	0.00285
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val)	rs200579941	0.00284
NM_000518.5(HBB):c.*96T>C	rs34029390	0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)	rs60986317	0.00282
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	rs73015965	0.00282
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	rs137933390	0.00282
NM_020751.3(COG6):c.358A>G (p.Ser120Gly)	rs139313781	0.00280
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)	rs147551003	0.00280
NM_000059.4(BRCA2):c.68-7T>A	rs81002830	0.00277
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)	rs78488552	0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	rs1800365	0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)	rs146458902	0.00274
NM_000203.5(IDUA):c.246C>G (p.His82Gln)	rs148775298	0.00274
NM_000969.5(RPL5):c.3+3G>C	rs200628272	0.00274
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)	rs58241708	0.00272
NM_032043.3(BRIP1):c.2097+7G>A	rs4988352	0.00271
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)	rs35960726	0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)	rs139180845	0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)	rs1799954	0.00268
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)	rs192129249	0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)	rs141330687	0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=)	rs61754795	0.00266
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)	rs78501232	0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)	rs641252	0.00265
NM_000222.3(KIT):c.2597-51T>C	rs368272654	0.00263
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)	rs6161	0.00262
NM_001126049.2(KLLN):c.-898G>A	rs538728843	0.00262
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)	rs35741240	0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)	rs35029074	0.00260
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)	rs121912698	0.00260
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)	rs138832868	0.00259
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125	0.00257
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)	rs138824667	0.00256
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)	rs146102241	0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)	rs138382758	0.00255
NM_006502.3(POLH):c.626G>T (p.Gly209Val)	rs2307456	0.00253
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)	rs143638171	0.00250
NM_000088.4(COL1A1):c.1984-5C>A	rs66592376	0.00249
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)	rs116150891	0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)	rs11570112	0.00247
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)	rs149484917	0.00246
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)	rs28385141	0.00245
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)	rs151266052	0.00245
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)	rs41278047	0.00243
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	rs115746363	0.00243
NM_003072.5(SMARCA4):c.2275-3C>A	rs117611401	0.00243
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His)	rs34181110	0.00241
NM_006231.4(POLE):c.51C>G (p.Gly17=)	rs780436496	0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)	rs1800744	0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)	rs28897749	0.00239
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)	rs138754417	0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	rs1800386	0.00237
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	rs41281202	0.00236
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)	rs139525250	0.00236
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)	rs45454496	0.00235
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)	rs144090917	0.00234
NM_000057.4(BLM):c.4077-10C>T	rs145310008	0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)	rs149804567	0.00233
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)	rs11575933	0.00232
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)	rs112592855	0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	rs139235751	0.00230
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)	rs147215925	0.00230
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)	rs76466003	0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn)	rs267607083	0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	rs121434529	0.00225
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)	rs142586585	0.00225
NM_000492.4(CFTR):c.1210-13del	rs750294275	0.00222
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)	rs139971481	0.00222
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)	rs148685782	0.00222
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)	rs145891889	0.00220
NM_005916.5(MCM7):c.1417G>A (p.Gly473Ser)	rs2307347	0.00220
NM_016932.5(SIX2):c.722C>T (p.Pro241Leu)	rs147806994	0.00220
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)	rs74315416	0.00220
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)	rs181347577	0.00218
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)	rs141320511	0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)	rs41419545	0.00217
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)	rs140639805	0.00216
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)	rs138872455	0.00215
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg)	rs17884293	0.00215
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)	rs72653756	0.00214
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)	rs77021998	0.00214
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)	rs141503266	0.00213
NM_000077.5(CDKN2A):c.150+37G>C	rs45456595	0.00212
NM_000492.4(CFTR):c.2620-15C>G	rs139379077	0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)	rs28929470	0.00211
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)	rs146849637	0.00210
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)	rs73505420	0.00210
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)	rs4986845	0.00209
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)	rs36220240	0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)	rs143184877	0.00208
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)	rs147241704	0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	rs34767364	0.00206
NM_003888.4(ALDH1A2):c.451G>T (p.Ala151Ser)	rs115875978	0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)	rs55977008	0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)	rs11571746	0.00202
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)	rs147336515	0.00202
NM_004807.3(HS6ST1):c.652C>T (p.Pro218Ser)	rs200268730	0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)	rs17883862	0.00201
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00200
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)	rs200653339	0.00200
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp)	rs185919705	0.00200
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)	rs183885357	0.00200
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)	rs115080759	0.00198
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)	rs104894696	0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)	rs4988347	0.00197
NM_000051.4(ATM):c.8269-14A>T	rs114320959	0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)	rs62622373	0.00194
NM_014795.4(ZEB2):c.807+3G>C	rs144925893	0.00194
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)	rs61754871	0.00194
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)	rs145169006	0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)	rs148399850	0.00192
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)	rs143340522	0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)	rs114446594	0.00191
NM_014967.5(FAN1):c.149T>G (p.Met50Arg)	rs148404807	0.00191
NM_000088.4(COL1A1):c.4006-33G>A	rs201920224	0.00190
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	rs117225135	0.00190
NM_024589.3(ROGDI):c.522C>T (p.Ser174=)	rs150687774	0.00190
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)	rs199771406	0.00188
NM_000249.4(MLH1):c.790+10A>G	rs182733777	0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)	rs61753720	0.00188
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)	rs56128736	0.00186
NM_001308093.3(GATA4):c.*1168T>C	rs549543886	0.00185
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	rs17217716	0.00184
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)	rs147373451	0.00184
NM_031276.3(TEX11):c.2047G>A (p.Ala683Thr)	rs140984555	0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)	rs28897710	0.00182
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met)	rs143711562	0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	rs77724903	0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)	rs149318176	0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)	rs145569846	0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)	rs35736435	0.00177
NM_000371.4(TTR):c.416C>T (p.Thr139Met)	rs28933981	0.00177
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)	rs116373169	0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)	rs142433309	0.00177
NM_000465.4(BARD1):c.33G>T (p.Gln11His)	rs143914387	0.00176
NM_002691.4(POLD1):c.773C>T (p.Thr258Met)	rs76131127	0.00176
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	rs121912691	0.00175
NM_001710.6(CFB):c.724A>C (p.Ile242Leu)	rs144812066	0.00175
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)	rs587780057	0.00174
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)	rs150759461	0.00174
NM_001037.5(SCN1B):c.448+321G>A	rs72558028	0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	rs146077918	0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)	rs140992177	0.00171
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)	rs150157202	0.00171
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	rs143987857	0.00171
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)	rs121917739	0.00171
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)	rs183156491	0.00171
NM_004738.5(VAPB):c.510G>A (p.Met170Ile)	rs143144050	0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)	rs142508245	0.00170
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)	rs150681845	0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)	rs1800059	0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)	rs55969723	0.00168
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	rs137854475	0.00168
NM_000369.5(TSHR):c.357T>A (p.Pro119=)	rs144084915	0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)	rs80116829	0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=)	rs144709948	0.00166
NM_015268.4(DNAJC13):c.5684C>T (p.Thr1895Met)	rs145242123	0.00166
NM_000051.4(ATM):c.7788+8G>T	rs112775908	0.00165
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)	rs117358479	0.00165
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)	rs201934623	0.00163
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)	rs62269092	0.00163
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)	rs200473652	0.00163
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)	rs45568335	0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)	rs139633388	0.00162
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)	rs142403318	0.00162
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_001174096.2(ZEB1):c.2717C>G (p.Ala906Gly)	rs78449005	0.00162
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)	rs151272083	0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)	rs145499142	0.00162
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His)	rs5907	0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)	rs138213197	0.00160
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)	rs150066950	0.00159
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)	rs61747636	0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)	rs4987046	0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)	rs3211299	0.00158
NM_000321.3(RB1):c.380+10C>G	rs187110786	0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)	rs193922639	0.00158
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys)	rs202110498	0.00158
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)	rs142679083	0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)	rs45517423	0.00156
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro)	rs147896487	0.00155
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)	rs3219496	0.00154
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)	rs121918817	0.00154
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00154
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)	rs142992009	0.00153
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)	rs146044282	0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	rs181250704	0.00151
NM_001486.4(GCKR):c.307G>A (p.Val103Met)	rs146175795	0.00151
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr)	rs201105747	0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met)	rs121913013	0.00150
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter)	rs71581941	0.00150
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)	rs147448807	0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)	rs56158747	0.00150
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr)	rs61742245	0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)	rs72552259	0.00149
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)	rs41298838	0.00148
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)	rs144830948	0.00148
NM_003865.2(HESX1):c.-276T>G	rs983243	0.00148
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)	rs61734354	0.00146
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)	rs80358600	0.00146
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg)	rs2467827	0.00146
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)	rs151073129	0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val)	rs61754966	0.00145
NM_004360.5(CDH1):c.2440-6C>G	rs139757930	0.00145
NM_001127208.3(TET2):c.521C>A (p.Pro174His)	rs146031219	0.00144
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	rs150597413	0.00144
NM_170665.4(ATP2A2):c.2945C>T (p.Thr982Met)	rs149024535	0.00144
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)	rs35831931	0.00143
NM_000251.3(MSH2):c.1387-8G>T	rs187525243	0.00143
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)	rs149202766	0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)	rs3218752	0.00142
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)	rs55775473	0.00141
NM_005431.2(XRCC2):c.40-16T>C	rs41274991	0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)	rs142551229	0.00140
NM_002691.4(POLD1):c.2577C>T (p.Gly859=)	rs149366027	0.00140
NM_014425.5(INVS):c.913G>A (p.Val305Ile)	rs116438342	0.00140
NM_000051.4(ATM):c.1066-6T>G	rs201686625	0.00139
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)	rs55816687	0.00138
NM_000213.5(ITGB4):c.3112-3C>T	rs151033645	0.00138
NM_194454.3(KRIT1):c.*132T>G	rs572414111	0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	rs28904919	0.00137
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)	rs148623597	0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)	rs1800709	0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	rs58331765	0.00136
NM_002691.4(POLD1):c.2007-4G>A	rs202035484	0.00135
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	rs1800073	0.00134
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)	rs148002300	0.00134
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)	rs111033393	0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)	rs28897762	0.00132
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)	rs547116063	0.00131
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)	rs150165484	0.00131
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)	rs139866691	0.00129
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)	rs149606212	0.00128
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)	rs61729664	0.00128
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln)	rs199694087	0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)	rs28897747	0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)	rs55865524	0.00127
NM_006231.4(POLE):c.296C>T (p.Pro99Leu)	rs5744739	0.00127
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)	rs144761622	0.00126
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	rs140781259	0.00126
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)	rs80265967	0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)	rs72466590	0.00126
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)	rs104894951	0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)	rs4988008	0.00125
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)	rs201062903	0.00124
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	rs11212587	0.00124
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)	rs80084721	0.00124
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)	rs181958589	0.00124
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter)	rs200846354	0.00124
NM_002878.4(RAD51D):c.263+1588A>G	rs180869630	0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)	rs139075637	0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met)	rs151220873	0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)	rs80356592	0.00122
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)	rs61754767	0.00121
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)	rs28928909	0.00121
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser)	rs139456217	0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	rs45478192	0.00121
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)	rs139747674	0.00120
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	rs141373204	0.00119
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)	rs78972735	0.00119
NM_000365.6(TPI1):c.463G>A (p.Val155Met)	rs188138723	0.00118
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)	rs11574410	0.00118
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)	rs137979116	0.00118
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)	rs1799965	0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)	rs143523271	0.00116
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr)	rs145867502	0.00116
NM_000505.4(F12):c.1027G>C (p.Ala343Pro)	rs183643295	0.00115
NM_001807.6(CEL):c.2172del (p.Val725fs)	rs780419796	0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)	rs112215250	0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)	rs104894190	0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)	rs201455322	0.00114
NM_000038.6(APC):c.423-17T>A	rs534684461	0.00114
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)	rs201186470	0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)	rs116998555	0.00113
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)	rs147398904	0.00111
NM_000249.4(MLH1):c.-28A>G	rs56198082	0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)	rs145473716	0.00110
NM_002907.4(RECQL):c.1215A>C (p.Ala405=)	rs147610182	0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)	rs142959373	0.00109
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)	rs151244052	0.00109
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)	rs141828689	0.00109
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)	rs146571352	0.00109
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	rs147136339	0.00108
NM_015278.5(SASH1):c.2459G>A (p.Arg820Gln)	rs144633784	0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	rs112287730	0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	rs146429605	0.00107
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)	rs184394424	0.00107
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)	rs141609561	0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)	rs55933907	0.00106
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	rs1800110	0.00106
NM_001399.5(EDA):c.458G>A (p.Arg153His)	rs140642493	0.00106
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu)	rs78977446	0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)	rs144968313	0.00106
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)	rs138760432	0.00105
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	rs147213895	0.00104
NM_006493.4(CLN5):c.-146T>C	rs201615354	0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)	rs147021911	0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)	rs28997569	0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)	rs138327406	0.00103
NM_000237.2(LPL):c.-241G>C	rs540525285	0.00103
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)	rs61752878	0.00103
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser)	rs121909217	0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)	rs369613619	0.00103
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	rs138994150	0.00103
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)	rs117390537	0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=)	rs61755173	0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala)	rs144706057	0.00102
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)	rs147961615	0.00102
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)	rs139524121	0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)	rs142047649	0.00102
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)	rs146504767	0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)	rs137853994	0.00101
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)	rs75654767	0.00101
NM_005263.5(GFI1):c.-14A>C	rs200972824	0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)	rs55716624	0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)	rs199681533	0.00100
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00099
NM_001098816.3(TENM4):c.1553G>A (p.Arg518Gln)	rs201191369	0.00098
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)	rs140216790	0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)	rs151242451	0.00098
NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala)	rs200163795	0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)	rs4986854	0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)	rs11571655	0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)	rs34231402	0.00096
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)	rs1800061	0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)	rs28897711	0.00096
NM_000059.4(BRCA2):c.6937+594T>G	rs191253965	0.00096
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)	rs139139859	0.00096
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn)	rs61736617	0.00096
NM_000496.3(CRYBB2):c.559G>A (p.Val187Met)	rs143080187	0.00094
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)	rs61750604	0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)	rs146170087	0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)	rs147549623	0.00093
NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys)	rs61745146	0.00093
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)	rs374550999	0.00093
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)	rs146803767	0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)	rs35224686	0.00092
NM_000383.4(AIRE):c.901G>A (p.Val301Met)	rs150634562	0.00092
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)	rs142723249	0.00092
NM_001005242.3(PKP2):c.156G>A (p.Lys52=)	rs201210997	0.00092
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)	rs138597671	0.00092
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	rs41303899	0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	rs138629441	0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His)	rs118092776	0.00091
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)	rs121909536	0.00091
NM_012140.5(SLC25A10):c.657C>T (p.Pro219=)	rs114621664	0.00091
NM_139281.3(WDR36):c.1418G>A (p.Arg473Gln)	rs116529882	0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00090
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	rs74315329	0.00089
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)	rs201680145	0.00089
NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys)	rs150857132	0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)	rs34919187	0.00088
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)	rs118169528	0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)	rs116349687	0.00088
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter)	rs142038240	0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)	rs41294980	0.00087
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)	rs121918769	0.00087
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)	rs149126845	0.00087
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)	rs148104494	0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val)	rs147710408	0.00086
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met)	rs35173587	0.00085
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)	rs142274954	0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)	rs111033243	0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	rs35516286	0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)	rs147955381	0.00083
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)	rs115031549	0.00083
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn)	rs61736899	0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)	rs119103248	0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)	rs28897706	0.00082
NM_000268.4(NF2):c.1451T>C (p.Met484Thr)	rs141538143	0.00082
NM_001202.6(BMP4):c.860G>A (p.Arg287His)	rs121912768	0.00082
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu)	rs199543866	0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)	rs149711770	0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	rs150792276	0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)	rs200130356	0.00081
NM_001292063.2(OTOG):c.385G>A (p.Val129Met)	rs552304627	0.00081
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)	rs35619497	0.00081
NM_004807.3(HS6ST1):c.917G>A (p.Arg306Gln)	rs201307896	0.00081
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)	rs142085247	0.00080
NM_000321.3(RB1):c.1129A>T (p.Thr377Ser)	rs146897002	0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)	rs61753975	0.00080
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)	rs138951890	0.00080
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)	rs79782048	0.00079
NM_032545.4(CFC1):c.522del (p.Ala175fs)	rs746231039	0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)	rs112084407	0.00078
NM_005732.4(RAD50):c.3036+5G>A	rs181016343	0.00078
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)	rs149253719	0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)	rs147934285	0.00077
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp)	rs138296448	0.00077
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)	rs137853247	0.00076
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	rs3219494	0.00076
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)	rs141436143	0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)	rs145855459	0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)	rs148432863	0.00075
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)	rs141137543	0.00075
NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys)	rs142724470	0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)	rs41293475	0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)	rs28897708	0.00074
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)	rs148783445	0.00074
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)	rs1805031	0.00074
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln)	rs118163237	0.00074
NM_058216.3(RAD51C):c.146-8A>G	rs201079501	0.00074
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	rs137932199	0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)	rs45517238	0.00073
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)	rs104893904	0.00073
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)	rs116506614	0.00073
NM_000492.4(CFTR):c.1210-11_1210-10insG	rs551227135	0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)	rs201671325	0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)	rs117209107	0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)	rs75870842	0.00071
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	rs2235006	0.00071
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)	rs45517203	0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	rs149755320	0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	rs61746008	0.00070
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)	rs121917910	0.00070
NM_007194.4(CHEK2):c.320-5T>A	rs121908700	0.00070
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)	rs139717960	0.00069
NM_004006.3(DMD):c.10262+1G>A	rs145603325	0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)	rs4987050	0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)	rs200074800	0.00068
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)	rs193205940	0.00068
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)	rs121909034	0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)	rs137854154	0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)	rs200324356	0.00068
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	rs377637314	0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)	rs63751005	0.00067
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)	rs145063086	0.00067
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)	rs515726209	0.00067
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)	rs148154172	0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	rs139203363	0.00066
NM_004006.3(DMD):c.4233+2C>T	rs147474070	0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)	rs1800740	0.00066
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp)	rs202070666	0.00066
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)	rs148195424	0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)	rs138874610	0.00065
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)	rs146326769	0.00065
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)	rs147692158	0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)	rs1800704	0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)	rs1800063	0.00065
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)	rs200780796	0.00065
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)	rs41557217	0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)	rs61749714	0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)	rs140328601	0.00064
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)	rs141925556	0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)	rs41293447	0.00064
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	rs141711342	0.00063
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)	rs201312636	0.00063
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)	rs199473316	0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	rs149514924	0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)	rs35698242	0.00063
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)	rs199538589	0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	rs146251364	0.00063
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)	rs141619382	0.00063
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)	rs142433421	0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)	rs184758350	0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)	rs142415050	0.00063
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)	rs138495222	0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)	rs142358238	0.00062
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)	rs139544114	0.00062
NM_000249.4(MLH1):c.375A>G (p.Ala125=)	rs1800144	0.00062
NM_002691.4(POLD1):c.455C>T (p.Ala152Val)	rs41563714	0.00062
NM_004667.6(HERC2):c.9283G>T (p.Ala3095Ser)	rs142753406	0.00062
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro)	rs149174093	0.00062
NM_012268.4(PLD3):c.851A>G (p.Asn284Ser)	rs200274020	0.00062
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)	rs201032343	0.00062
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His)	rs34972707	0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)	rs138776684	0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)	rs36210422	0.00061
NM_000245.4(MET):c.467C>T (p.Ser156Leu)	rs56311081	0.00061
NM_000249.4(MLH1):c.1039-7_1040del	rs1559551447	0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)	rs142951505	0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)	rs34995577	0.00061
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg)	rs561633150	0.00061
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His)	rs150188026	0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)	rs150151955	0.00060
NM_000455.5(STK11):c.945G>A (p.Pro315=)	rs376329042	0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)	rs28897677	0.00060
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)	rs35602796	0.00060
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	rs143486492	0.00059
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)	rs146505280	0.00059
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)	rs146989944	0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)	rs147626427	0.00059
NM_000245.4(MET):c.406G>A (p.Val136Ile)	rs199701987	0.00058
NM_000492.4(CFTR):c.3717+45G>A	rs145743767	0.00058
NM_000531.6(OTC):c.298+5G>C	rs72554348	0.00058
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)	rs17881753	0.00058
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)	rs55808233	0.00058
NM_144997.7(FLCN):c.871+47G>A	rs142934950	0.00058
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)	rs34778348	0.00058
NM_004360.5(CDH1):c.2439+10C>T	rs35236080	0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)	rs139260335	0.00057
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	rs138613460	0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)	rs148725540	0.00056
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)	rs146572883	0.00056
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)	rs138828590	0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)	rs147604227	0.00056
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)	rs146504061	0.00056
NM_000313.4(PROS1):c.76+7A>G	rs201928951	0.00056
NM_002691.4(POLD1):c.1138-8A>G	rs41544624	0.00056
NM_020975.6(RET):c.262A>G (p.Ile88Val)	rs141679950	0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00056
NM_206933.4(USH2A):c.4758+3A>G	rs117798425	0.00056
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)	rs142348542	0.00055
NM_002907.4(RECQL):c.406G>A (p.Val136Ile)	rs138278747	0.00055
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn)	rs143204084	0.00055
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)	rs35658131	0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)	rs28897712	0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)	rs28897716	0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)	rs34640941	0.00053
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)	rs146303208	0.00053
NM_000059.4(BRCA2):c.7435+6G>A	rs81002852	0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=)	rs758448869	0.00053
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	rs34946978	0.00053
NM_031276.3(TEX11):c.466A>G (p.Met156Val)	rs143246552	0.00053
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)	rs56025670	0.00051
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)	rs1800366	0.00051
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)	rs121912759	0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)	rs200078204	0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	rs138089183	0.00051
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)	rs137852868	0.00051
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)	rs143583842	0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)	rs140592056	0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)	rs77130927	0.00051
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)	rs149108037	0.00051
NM_020975.6(RET):c.405C>T (p.Gly135=)	rs142345108	0.00051
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)	rs150390726	0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)	rs200038092	0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)	rs45496496	0.00050
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala)	rs61743088	0.00050
NM_005245.4(FAT1):c.8963A>T (p.Lys2988Ile)	rs74986565	0.00050
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)	rs145771342	0.00050
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln)	rs28989187	0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)	rs62645749	0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)	rs142381713	0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp)	rs139196838	0.00048
NM_000059.4(BRCA2):c.631+25C>T	rs367871824	0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)	rs28897744	0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)	rs149945495	0.00048
NM_006514.4(SCN10A):c.3674T>C (p.Ile1225Thr)	rs139638446	0.00048
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)	rs145057187	0.00048
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)	rs67608943	0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)	rs111033248	0.00048
NM_000261.2(MYOC):c.878C>A (p.Thr293Lys)	rs139122673	0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=)	rs370207155	0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe)	rs61754796	0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)	rs114119067	0.00047
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser)	rs151090729	0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)	rs140856217	0.00046
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)	rs138958687	0.00046
NM_000085.5(CLCNKB):c.656-31del	rs751608665	0.00046
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)	rs34136999	0.00046
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)	rs371513491	0.00046
NM_000492.4(CFTR):c.274-6T>C	rs371315549	0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met)	rs138338446	0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_006218.4(PIK3CA):c.1747-9C>T	rs201779641	0.00046
NM_017763.6(RNF43):c.575C>T (p.Pro192Leu)	rs139557480	0.00046
NM_000059.4(BRCA2):c.7976+12G>A	rs81002827	0.00045
NM_000245.4(MET):c.959C>T (p.Ala320Val)	rs35776110	0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)	rs35110529	0.00045
NM_001048174.2(MUTYH):c.914-9C>T	rs3219488	0.00045
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)	rs146875699	0.00045
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)	rs146466242	0.00045
NM_002485.5(NBN):c.-26G>A	rs201392451	0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)	rs144143245	0.00045
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser)	rs138663409	0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)	rs138393322	0.00044
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)	rs28897728	0.00044
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys)	rs74315503	0.00044
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)	rs79777494	0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)	rs75321043	0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	rs121964857	0.00044
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)	rs200901330	0.00044
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg)	rs202203322	0.00044
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)	rs149391489	0.00043
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg)	rs77688767	0.00043
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)	rs200056411	0.00043
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	rs144476686	0.00043
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)	rs148579886	0.00043
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)	rs12877501	0.00043
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)	rs62640028	0.00043
NM_014314.4(RIGI):c.2272G>T (p.Glu758Ter)	rs553716308	0.00043
NM_000048.4(ASL):c.392C>T (p.Thr131Met)	rs143793815	0.00042
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)	rs141069645	0.00042
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val)	rs139795367	0.00042
NM_001193313.2(SUGCT):c.478A>C (p.Ile160Leu)	rs138102615	0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	rs121907998	0.00041
NM_000249.4(MLH1):c.702G>A (p.Glu234=)	rs35908749	0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00041
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)	rs139194813	0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	rs144079536	0.00041
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)	rs189652973	0.00041
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)	rs145309168	0.00041
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)	rs114615449	0.00041
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)	rs149029910	0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	rs45589637	0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=)	rs137854575	0.00040
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)	rs3092902	0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn)	rs121918074	0.00040
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)	rs117221419	0.00040
NM_000038.6(APC):c.2847G>T (p.Met949Ile)	rs147394539	0.00039
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	rs41298442	0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	rs104894845	0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	rs104893829	0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)	rs201816080	0.00039
NM_007294.4(BRCA1):c.301+146A>C	rs571713225	0.00039
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	rs202201763	0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)	rs148935214	0.00039
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile)	rs139399061	0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	rs121909398	0.00039
NM_000038.6(APC):c.5690A>C (p.His1897Pro)	rs112610898	0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)	rs55801750	0.00038
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)	rs56394801	0.00038
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)	rs137852517	0.00038
NM_000251.3(MSH2):c.1511-41G>C	rs202215396	0.00038
NM_000492.4(CFTR):c.2620-6T>C	rs371315682	0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)	rs1800112	0.00038
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)	rs587776399	0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)	rs201857437	0.00038
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)	rs34938432	0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)	rs63751049	0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)	rs140825795	0.00037
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)	rs150306543	0.00037
NM_002907.4(RECQL):c.809G>A (p.Cys270Tyr)	rs149763880	0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)	rs200512504	0.00037
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)	rs200587641	0.00036
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)	rs34374438	0.00036
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)	rs199669878	0.00036
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr)	rs121918027	0.00036
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)	rs74772771	0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)	rs145611185	0.00036
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)	rs200069356	0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	rs34637584	0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)	rs56009889	0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)	rs4987049	0.00035
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	rs190598500	0.00035
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)	rs56127440	0.00035
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)	rs200352299	0.00035
NM_001048174.2(MUTYH):c.850-2A>G	rs77542170	0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)	rs45612837	0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu)	rs141576417	0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)	rs139552233	0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)	rs369903995	0.00034
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)	rs80358567	0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	rs201273753	0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)	rs142352887	0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)	rs63750365	0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)	rs141122361	0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_001011658.4(TRAPPC2):c.-97G>A	rs746032983	0.00034
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	rs150932144	0.00034
NM_002691.4(POLD1):c.1092G>C (p.Leu364=)	rs139883454	0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)	rs34833812	0.00034
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser)	rs199802471	0.00034
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val)	rs35918369	0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	rs200050883	0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)	rs55906931	0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)	rs200662973	0.00034
NM_021870.3(FGG):c.124G>A (p.Gly42Ser)	rs202132393	0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)	rs2277596	0.00034
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)	rs104886164	0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)	rs111033409	0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)	rs63750810	0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)	rs147723844	0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	rs121912714	0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)	rs201057307	0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)	rs769414	0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	rs201477273	0.00033
NM_006514.4(SCN10A):c.281T>G (p.Val94Gly)	rs202143516	0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=)	rs145751759	0.00032
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)	rs2229022	0.00032
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	rs145022945	0.00032
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)	rs28897701	0.00032
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)	rs80359065	0.00032
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)	rs104895155	0.00032
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)	rs35691292	0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	rs148812376	0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)	rs80357015	0.00032
NM_014053.4(FLVCR1):c.1092+5G>A	rs556788423	0.00032
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)	rs149664056	0.00031
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)	rs199915459	0.00031
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)	rs1801256	0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	rs63750124	0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	rs61761869	0.00031
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)	rs145540754	0.00031
NM_001048174.2(MUTYH):c.1392+2C>T	rs140288388	0.00031
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)	rs150271893	0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met)	rs111033360	0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)	rs114322958	0.00031
NM_004656.4(BAP1):c.1962A>C (p.Val654=)	rs148624125	0.00031
NM_005228.5(EGFR):c.241-8C>G	rs138872748	0.00031
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	rs121913563	0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)	rs28897687	0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)	rs72553875	0.00031
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)	rs139007744	0.00031
NM_153212.3(GJB4):c.568A>T (p.Met190Leu)	rs543341299	0.00031
NM_207122.2(EXT2):c.260T>G (p.Met87Arg)	rs140075817	0.00031
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	rs34295337	0.00030
NM_000268.4(NF2):c.886-15C>T	rs200837904	0.00030
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)	rs121913016	0.00030
NM_002691.4(POLD1):c.714G>A (p.Thr238=)	rs149096523	0.00030
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)	rs201879930	0.00030
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)	rs148545569	0.00029
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys)	rs80359251	0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)	rs111801777	0.00029
NM_000268.4(NF2):c.1340+8G>T	rs370604189	0.00029
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)	rs143335584	0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)	rs200844292	0.00029
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)	rs199473183	0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)	rs75820036	0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	rs144564120	0.00029
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)	rs144856889	0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=)	rs146354103	0.00029
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser)	rs186763441	0.00029
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)	rs143502927	0.00029
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)	rs145087575	0.00029
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)	rs28989183	0.00029
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser)	rs567904247	0.00029
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)	rs149653983	0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)	rs56012641	0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)	rs56187033	0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)	rs192620988	0.00028
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)	rs201830995	0.00028
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)	rs140537304	0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)	rs142822590	0.00028
NM_000455.5(STK11):c.-137C>T	rs527710714	0.00027
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)	rs56679084	0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)	rs104895032	0.00027
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr)	rs149569984	0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)	rs201963516	0.00027
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)	rs35963548	0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)	rs80359788	0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)	rs56272235	0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)	rs41293521	0.00026
NM_000154.2(GALK1):c.-22T>C	rs545362817	0.00026
NM_000179.3(MSH6):c.4002-10T>A	rs545466048	0.00026
NM_000312.4(PROC):c.565C>T (p.Arg189Trp)	rs146922325	0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	rs200513014	0.00026
NM_000760.4(CSF3R):c.272A>G (p.His91Arg)	rs148307285	0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)	rs200894246	0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	rs139632595	0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)	rs28897675	0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)	rs150757822	0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	rs201738967	0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)	rs56328701	0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)	rs80358674	0.00025
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)	rs76784312	0.00025
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)	rs556901417	0.00025
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)	rs140731963	0.00025
NM_004655.4(AXIN2):c.1059+8C>T	rs367595502	0.00025
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys)	rs104894766	0.00025
NM_016146.6(TRAPPC4):c.454+3A>G	rs375776811	0.00025
NM_000059.4(BRCA2):c.317-22C>T	rs81002794	0.00024
NM_000095.3(COMP):c.700C>T (p.Pro234Ser)	rs557483957	0.00024
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)	rs145009419	0.00024
NM_000548.5(TSC2):c.1443+4C>T	rs45517172	0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	rs146136265	0.00024
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln)	rs201078160	0.00024
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser)	rs137860861	0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)	rs201115064	0.00024
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)	rs80357257	0.00024
NM_007294.4(BRCA1):c.4358-10C>T	rs80358111	0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)	rs142053576	0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala)	rs139790943	0.00024
NM_058216.3(RAD51C):c.145+12T>G	rs377297129	0.00024
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)	rs78683075	0.00024
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)	rs34591340	0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)	rs28897676	0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met)	rs34682185	0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)	rs28897755	0.00022
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)	rs201274041	0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)	rs63750702	0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	rs41295288	0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00022
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)	rs142063461	0.00022
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)	rs145835916	0.00022
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)	rs757653154	0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)	rs139438201	0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)	rs758633794	0.00022
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)	rs116093741	0.00022
NM_004960.4(FUS):c.646C>T (p.Arg216Cys)	rs267606832	0.00022
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)	rs200796750	0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met)	rs79658334	0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)	rs200367454	0.00022
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)	rs376494248	0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)	rs80358755	0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	rs199473603	0.00021
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)	rs373257776	0.00021
NM_001378687.1(ATP2C1):c.2058-17T>C	rs117316812	0.00021
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile)	rs138969595	0.00021
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)	rs199986217	0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)	rs80357147	0.00021
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)	rs80356920	0.00021
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys)	rs72553876	0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)	rs61756147	0.00021
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)	rs45594034	0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)	rs56403624	0.00020
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)	rs80358521	0.00020
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)	rs55875643	0.00020
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)	rs80358906	0.00020
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)	rs104895151	0.00020
NM_001109878.2(TBX22):c.459-5T>A	rs200060292	0.00020
NM_024678.6(NARS2):c.1253G>A (p.Arg418His)	rs535877562	0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=)	rs35578748	0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)	rs137882485	0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)	rs145119475	0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)	rs147187700	0.00019
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)	rs80358408	0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)	rs80358782	0.00019
NM_000059.4(BRCA2):c.8487+8G>A	rs81002838	0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)	rs41295278	0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup	rs587779302	0.00019
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile)	rs2229013	0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)	rs63750006	0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln)	rs33946261	0.00019
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)	rs138387687	0.00019
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)	rs556618384	0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)	rs115407852	0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)	rs200945460	0.00019
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)	rs201327273	0.00019
NM_002691.4(POLD1):c.2007-5C>T	rs199506387	0.00019
NM_002907.4(RECQL):c.518T>A (p.Val173Asp)	rs144313838	0.00019
NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp)	rs116057045	0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)	rs139366548	0.00019
NM_007294.4(BRCA1):c.4484+14A>G	rs80358022	0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)	rs193030567	0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)	rs377278397	0.00018
NM_000038.6(APC):c.4237A>G (p.Met1413Val)	rs141519952	0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)	rs202228932	0.00018
NM_000038.6(APC):c.6637A>G (p.Met2213Val)	rs186926737	0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)	rs11571653	0.00018
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)	rs55689095	0.00018
NM_000059.4(BRCA2):c.7976+23C>T	rs183623188	0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)	rs63749910	0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	rs45553235	0.00018
NM_000361.3(THBD):c.-151G>T	rs16984852	0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)	rs118203745	0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)	rs145151284	0.00018
NM_001048174.2(MUTYH):c.1102+9A>T	rs587780742	0.00018
NM_002878.4(RAD51D):c.904-3C>T	rs45478491	0.00018
NM_004304.5(ALK):c.4407G>A (p.Pro1469=)	rs372471601	0.00018
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)	rs147834269	0.00018
NM_006231.4(POLE):c.1597G>A (p.Val533Met)	rs374140892	0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)	rs373768478	0.00018
NM_007294.4(BRCA1):c.5406+33A>T	rs80358092	0.00018
NM_033380.3(COL4A5):c.3374-11C>A	rs104886387	0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)	rs201004111	0.00017
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)	rs150882838	0.00017
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)	rs138398778	0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)	rs370559102	0.00017
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)	rs199473045	0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	rs61751392	0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)	rs201712827	0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)	rs28897686	0.00017
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)	rs28897690	0.00017
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)	rs146436929	0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)	rs141458731	0.00017
NM_000038.6(APC):c.6510A>C (p.Pro2170=)	rs138571760	0.00016
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)	rs151163793	0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)	rs201199629	0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)	rs199901898	0.00016
NM_000135.4(FANCA):c.3348+7G>T	rs185527578	0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln)	rs367968666	0.00016
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)	rs267608075	0.00016
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr)	rs45578433	0.00016
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)	rs63750114	0.00016
NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)	rs199752860	0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val)	rs141629512	0.00016
NM_000321.3(RB1):c.113G>A (p.Gly38Asp)	rs766529534	0.00016
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)	rs137852313	0.00016
NM_000455.5(STK11):c.-461G>A	rs552610464	0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)	rs139468767	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)	rs72658865	0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)	rs375968016	0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)	rs200950673	0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)	rs372534421	0.00016
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)	rs185237690	0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)	rs147522594	0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)	rs121918802	0.00016
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)	rs79027628	0.00016
NM_002691.4(POLD1):c.2337G>A (p.Ala779=)	rs147108748	0.00016
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)	rs780604625	0.00016
NM_003482.4(KMT2D):c.626C>T (p.Thr209Ile)	rs373972024	0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	rs200277476	0.00016
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val)	rs140214637	0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)	rs115452881	0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)	rs201744227	0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)	rs121908702	0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)	rs373932824	0.00016
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)	rs150514959	0.00016
NM_201548.5(CERKL):c.1160-10T>G	rs771126203	0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)	rs138098808	0.00015
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)	rs200690226	0.00015
NM_000204.5(CFI):c.608C>T (p.Thr203Ile)	rs138346388	0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)	rs41295284	0.00015
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)	rs139444207	0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)	rs45509392	0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)	rs201047812	0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)	rs45520032	0.00015
NM_001382430.1(AKT1):c.406G>A (p.Val136Met)	rs778376616	0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)	rs267606904	0.00015
NM_002485.5(NBN):c.38-10T>A	rs556807466	0.00015
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)	rs782339984	0.00015
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)	rs372989292	0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	rs141568342	0.00015
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala)	rs146394306	0.00015
NM_031276.3(TEX11):c.2243T>C (p.Val748Ala)	rs200139216	0.00015
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)	rs147054690	0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	rs398123084	0.00014
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)	rs199874575	0.00014
NM_000038.6(APC):c.6609T>C (p.Val2203=)	rs149328018	0.00014
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)	rs146145357	0.00014
NM_000051.4(ATM):c.3077+4G>A	rs201222237	0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)	rs80358656	0.00014
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)	rs80358726	0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)	rs55854959	0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	rs121434372	0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)	rs61748083	0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)	rs267608051	0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)	rs63750650	0.00014
NM_000321.3(RB1):c.1156A>G (p.Met386Val)	rs564780653	0.00014
NM_000465.4(BARD1):c.1203T>C (p.Ser401=)	rs370553043	0.00014
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)	rs200534908	0.00014
NM_002336.3(LRP6):c.246A>T (p.Lys82Asn)	rs199693693	0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)	rs747315554	0.00014
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)	rs552776147	0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)	rs2307440	0.00014
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val)	rs146077019	0.00014
NM_003041.4(SLC5A2):c.885+5G>A	rs200228142	0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)	rs201004645	0.00014
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)	rs387906816	0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)	rs143965148	0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)	rs587780179	0.00014
NM_012193.4(FZD4):c.205C>T (p.His69Tyr)	rs80358282	0.00014
NM_013447.4(ADGRE2):c.1492del (p.Thr498fs)	rs771415140	0.00014
NM_013447.4(ADGRE2):c.355G>C (p.Asp119His)	rs751263352	0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	rs34647222	0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)	rs138081429	0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)	rs149051148	0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)	rs201958469	0.00013
NM_000051.4(ATM):c.8671+9T>G	rs200190537	0.00013
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)	rs142243359	0.00013
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)	rs80358589	0.00013
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)	rs144890720	0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)	rs144751329	0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His)	rs111422676	0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=)	rs200491279	0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001127511.3(APC):c.119G>C (p.Ser40Thr)	rs587778028	0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)	rs780163791	0.00013
NM_002907.4(RECQL):c.468T>G (p.Ile156Met)	rs777214281	0.00013
NM_002907.4(RECQL):c.86C>T (p.Thr29Met)	rs145067169	0.00013
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)	rs745868830	0.00013
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)	rs200911775	0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)	rs778915687	0.00013
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)	rs61762969	0.00013
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp)	rs749401561	0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)	rs199708878	0.00013
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)	rs41293451	0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	rs144972972	0.00013
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)	rs515726085	0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)	rs146377793	0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)	rs144056494	0.00012
NM_000038.6(APC):c.2204C>T (p.Ala735Val)	rs147655929	0.00012
NM_000038.6(APC):c.450A>G (p.Lys150=)	rs116020626	0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)	rs200794097	0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)	rs587780600	0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His)	rs148878262	0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)	rs55638633	0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)	rs121907984	0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)	rs368838866	0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)	rs753199796	0.00012
NM_001109878.2(TBX22):c.780G>A (p.Thr260=)	rs373817537	0.00012
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro)	rs202145169	0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)	rs745404679	0.00012
NM_002872.5(RAC2):c.545C>T (p.Thr182Met)	rs141308774	0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)	rs150321966	0.00012
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)	rs576538858	0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)	rs538875477	0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)	rs80357467	0.00012
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)	rs201017015	0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys)	rs148562777	0.00012
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)	rs3092907	0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)	rs201963507	0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val)	rs201231857	0.00011
NM_000059.4(BRCA2):c.9501+9A>C	rs81002867	0.00011
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)	rs143181565	0.00011
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)	rs34014629	0.00011
NM_000179.3(MSH6):c.628-7C>A	rs373129248	0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	rs104895081	0.00011
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)	rs150478207	0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	rs17217723	0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)	rs2229061	0.00011
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	rs147715336	0.00011
NM_000268.4(NF2):c.999+15G>A	rs367716680	0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)	rs202004587	0.00011
NM_000321.3(RB1):c.59C>T (p.Pro20Leu)	rs587778637	0.00011
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr)	rs201082692	0.00011
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu)	rs574125890	0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=)	rs767565606	0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=)	rs202011521	0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)	rs201140528	0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)	rs201504674	0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)	rs193922879	0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)	rs144601090	0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)	rs35352891	0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	rs377025174	0.00011
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln)	rs782604431	0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	rs121964999	0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)	rs375679311	0.00011
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)	rs138135866	0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)	rs121964872	0.00011
NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu)	rs80358273	0.00011
NM_006186.4(NR4A2):c.289A>G (p.Met97Val)	rs143618355	0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)	rs80357250	0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)	rs80357280	0.00011
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)	rs70953661	0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)	rs56195342	0.00011
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)	rs771254375	0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)	rs45510998	0.00011
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val)	rs112794616	0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	rs143344549	0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)	rs143240767	0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly)	rs150973053	0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)	rs200381392	0.00010
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)	rs80358387	0.00010
NM_000059.4(BRCA2):c.8633-16C>G	rs81002818	0.00010
NM_000128.4(F11):c.1613C>T (p.Pro538Leu)	rs139695003	0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)	rs63749886	0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	rs104895097	0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000451.4(SHOX):c.698C>T (p.Ala233Val)	rs750375727	0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)	rs375761361	0.00010
NM_001136193.2(FASTKD2):c.882-1G>A	rs767682048	0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)	rs202134424	0.00010
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg)	rs201567623	0.00010
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter)	rs62637037	0.00010
NM_001754.5(RUNX1):c.*4188G>C	rs761390141	0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)	rs191391414	0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)	rs587780102	0.00010
NM_006231.4(POLE):c.6531+6G>T	rs774747998	0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)	rs28939073	0.00010
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu)	rs201256460	0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)	rs371675497	0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	rs750636662	0.00010
NM_000051.4(ATM):c.2778A>G (p.Lys926=)	rs372569168	0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)	rs539676759	0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)	rs567060474	0.00009
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)	rs374691587	0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)	rs80358874	0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)	rs56121817	0.00009
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)	rs199505265	0.00009
NM_000245.4(MET):c.110T>C (p.Val37Ala)	rs201315884	0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)	rs771333219	0.00009
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)	rs375853155	0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)	rs63750876	0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)	rs150259097	0.00009
NM_000268.4(NF2):c.1540A>G (p.Met514Val)	rs201527155	0.00009
NM_000335.5(SCN5A):c.934+4C>T	rs182050752	0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	rs61750145	0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)	rs727505080	0.00009
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)	rs368649242	0.00009
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)	rs146946984	0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA	rs397508414	0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	rs4148725	0.00009
NM_001037.5(SCN1B):c.448+189C>A	rs766373298	0.00009
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)	rs537209983	0.00009
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys)	rs183911558	0.00009
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)	rs200295901	0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)	rs143329068	0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	rs201604102	0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)	rs121909100	0.00009
NM_002691.4(POLD1):c.1182C>T (p.Thr394=)	rs377462923	0.00009
NM_002691.4(POLD1):c.2388+5G>A	rs750085275	0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)	rs202003805	0.00009
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)	rs150427791	0.00009
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser)	rs372586694	0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)	rs758719669	0.00009
NM_007194.4(CHEK2):c.*7T>C	rs121908710	0.00009
NM_007194.4(CHEK2):c.319+2T>A	rs587782401	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)	rs372017932	0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys)	rs28897673	0.00009
NM_021784.5(FOXA2):c.1001C>T (p.Ala334Val)	rs199796119	0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)	rs149242794	0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)	rs515726072	0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)	rs377626805	0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)	rs144332569	0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)	rs201375478	0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)	rs200431631	0.00008
NM_000059.4(BRCA2):c.517-4C>G	rs81002804	0.00008
NM_000059.4(BRCA2):c.9501+3A>T	rs61757642	0.00008
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)	rs55778204	0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)	rs137852328	0.00008
NM_000455.5(STK11):c.920+5G>A	rs587780013	0.00008
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)	rs376727038	0.00008
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)	rs587781976	0.00008
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile)	rs140616359	0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	rs139842473	0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)	rs147718169	0.00008
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)	rs121917973	0.00008
NM_001386298.1(CIC):c.133G>A (p.Asp45Asn)	rs1044899707	0.00008
NM_001399.5(EDA):c.491A>C (p.Glu164Ala)	rs397516663	0.00008
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala)	rs201503610	0.00008
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr)	rs187203579	0.00008
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)	rs761575154	0.00008
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His)	rs369091875	0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	rs370644567	0.00008
NM_004360.5(CDH1):c.387+5G>A	rs113055163	0.00008
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)	rs144746928	0.00008
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met)	rs777241871	0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)	rs80357465	0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)	rs141185224	0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)	rs267606941	0.00008
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)	rs376619846	0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)	rs104886270	0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	rs111033524	0.00008
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)	rs146525445	0.00007
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)	rs587779804	0.00007
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)	rs147287751	0.00007
NM_000051.4(ATM):c.125A>G (p.His42Arg)	rs201773026	0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg)	rs201762714	0.00007
NM_000051.4(ATM):c.496+4T>C	rs587781375	0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)	rs56123940	0.00007
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)	rs80358604	0.00007
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)	rs201617914	0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)	rs730881787	0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)	rs199472864	0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	rs104895085	0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)	rs370529693	0.00007
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)	rs587778629	0.00007
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)	rs145952475	0.00007
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)	rs199473339	0.00007
NM_000435.3(NOTCH3):c.709G>A (p.Val237Met)	rs2285981	0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)	rs142920240	0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=)	rs371342884	0.00007
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)	rs373515515	0.00007
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)	rs376655102	0.00007
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)	rs778958318	0.00007
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys)	rs202117321	0.00007
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile)	rs587781634	0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)	rs587781442	0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)	rs56039126	0.00007
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=)	rs80356831	0.00007
NM_013447.4(ADGRE2):c.2266G>T (p.Ala756Ser)	rs373190699	0.00007
NM_020975.6(RET):c.1942G>A (p.Val648Ile)	rs77711105	0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu)	rs150734953	0.00007
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn)	rs199727706	0.00007
NM_177438.3(DICER1):c.1692G>A (p.Ala564=)	rs143117334	0.00007
NM_000038.6(APC):c.1139G>A (p.Arg380Gln)	rs587782886	0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)	rs148275069	0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)	rs372305287	0.00006
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)	rs199688874	0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His)	rs202160435	0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)	rs3218708	0.00006
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)	rs587780632	0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)	rs377349459	0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)	rs139379666	0.00006
NM_000057.4(BLM):c.114A>G (p.Lys38=)	rs770017301	0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=)	rs147587050	0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=)	rs201220226	0.00006
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)	rs527291754	0.00006
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)	rs587779357	0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)	rs80358451	0.00006
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu)	rs374191973	0.00006
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)	rs121909132	0.00006
NM_000166.6(GJB1):c.37G>A (p.Val13Met)	rs104894820	0.00006
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)	rs61753793	0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)	rs730881802	0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)	rs376799914	0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)	rs199594809	0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)	rs104895132	0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)	rs63750527	0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	rs63750796	0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His)	rs63750255	0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)	rs376754645	0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)	rs142988897	0.00006
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)	rs768396832	0.00006
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)	rs748094394	0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)	rs199473044	0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)	rs370029782	0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)	rs121913322	0.00006
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)	rs371264852	0.00006
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)	rs377227840	0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)	rs200359745	0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)	rs3738885	0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)	rs1801178	0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00006
NM_000501.4(ELN):c.1150+1G>A	rs727503030	0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	rs33950507	0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)	rs138477254	0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)	rs121964959	0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)	rs375626634	0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)	rs143900944	0.00006
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)	rs530832015	0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)	rs377393842	0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)	rs766420907	0.00006
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp)	rs149988492	0.00006
NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser)	rs200560568	0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val)	rs368524364	0.00006
NM_001105247.2(ARMC5):c.1039C>T (p.Pro347Ser)	rs79238971	0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)	rs563762318	0.00006
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)	rs755947942	0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)	rs772888249	0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)	rs72653788	0.00006
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp)	rs201889779	0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)	rs150401343	0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_002878.4(RAD51D):c.263+1641C>T	rs142387263	0.00006
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)	rs770250516	0.00006
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser)	rs374652916	0.00006
NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr)	rs200747934	0.00006
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)	rs141045127	0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	rs121908680	0.00006
NM_003977.4(AIP):c.145G>A (p.Val49Met)	rs1063385	0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	rs529500747	0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	rs376898963	0.00006
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)	rs761989177	0.00006
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)	rs35606263	0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)	rs143153871	0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)	rs760256649	0.00006
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)	rs140566004	0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His)	rs760149463	0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)	rs587780180	0.00006
NM_007294.4(BRCA1):c.135-3T>C	rs759417413	0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=)	rs533802049	0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)	rs80357191	0.00006
NM_013447.4(ADGRE2):c.137G>A (p.Arg46His)	rs142343910	0.00006
NM_013447.4(ADGRE2):c.138C>A (p.Arg46=)	rs202128202	0.00006
NM_013447.4(ADGRE2):c.2174G>A (p.Arg725Gln)	rs374432034	0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)	rs137941190	0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)	rs149830411	0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)	rs771157170	0.00006
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr)	rs780710009	0.00006
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr)	rs529924080	0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)	rs542429051	0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)	rs200620434	0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	rs62625284	0.00006
NM_024675.4(PALB2):c.560C>A (p.Pro187His)	rs371582757	0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=)	rs45487491	0.00006
NM_030773.4(TUBB1):c.35del (p.Cys12fs)	rs773248042	0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)	rs374362388	0.00006
NM_133497.4(KCNV2):c.647T>C (p.Ile216Thr)	rs558295858	0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)	rs387907097	0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)	rs965462099	0.00005
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)	rs201185479	0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)	rs143796828	0.00005
NM_000053.4(ATP7B):c.1285+5G>T	rs370579582	0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)	rs80359052	0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)	rs80359195	0.00005
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)	rs587779905	0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)	rs201958741	0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)	rs775606471	0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)	rs63749834	0.00005
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)	rs199473434	0.00005
NM_000245.4(MET):c.100G>A (p.Glu34Lys)	rs764246939	0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)	rs63750760	0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)	rs63750430	0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=)	rs377279035	0.00005
NM_000251.3(MSH2):c.843A>T (p.Ser281=)	rs150197753	0.00005
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)	rs751678290	0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)	rs201117452	0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)	rs142732109	0.00005
NM_000455.5(STK11):c.375-7G>A	rs587781176	0.00005
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)	rs200059956	0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	rs1800089	0.00005
NM_000492.4(CFTR):c.3469-20T>C	rs373002889	0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)	rs67486158	0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	rs374722096	0.00005
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)	rs767327888	0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)	rs778030177	0.00005
NM_001330360.2(POLA1):c.169-10A>G	rs998607228	0.00005
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu)	rs374071862	0.00005
NM_001382430.1(AKT1):c.570C>T (p.Asp190=)	rs780207480	0.00005
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)	rs202007590	0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)	rs371493232	0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)	rs201493928	0.00005
NM_006506.5(RASA2):c.807A>T (p.Leu269=)	rs757160095	0.00005
NM_007294.4(BRCA1):c.301+55G>A	rs868735744	0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)	rs80356860	0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)	rs373375060	0.00005
NM_020975.6(RET):c.3188-9C>T	rs551159582	0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile)	rs372416031	0.00004
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)	rs373428732	0.00004
NM_000038.6(APC):c.2948T>C (p.Ile983Thr)	rs113674464	0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)	rs138137162	0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)	rs587779816	0.00004
NM_000051.4(ATM):c.3154-5C>T	rs55719759	0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)	rs141087784	0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00004
NM_000059.4(BRCA2):c.-41G>A	rs879255312	0.00004
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)	rs56016241	0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)	rs80358531	0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)	rs80358545	0.00004
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)	rs80358548	0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)	rs56386506	0.00004
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)	rs80358866	0.00004
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)	rs397507367	0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)	rs80358978	0.00004
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)	rs80359129	0.00004
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)	rs80359143	0.00004
NM_000083.3(CLCN1):c.1167-10T>C	rs543120965	0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	rs569681869	0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)	rs533297350	0.00004
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)	rs781312706	0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)	rs61756469	0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)	rs63751450	0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)	rs564434147	0.00004
NM_000216.4(ANOS1):c.255+5G>A	rs773138384	0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr)	rs118204061	0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)	rs144270019	0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	rs104895079	0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)	rs104895144	0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)	rs140195825	0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	rs371488302	0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)	rs397516000	0.00004
NM_000321.3(RB1):c.1814+11T>C	rs771369373	0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)	rs199473561	0.00004
NM_000352.6(ABCC8):c.2041-21G>A	rs746714109	0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	rs121918085	0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=)	rs730881963	0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)	rs142864491	0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)	rs199669988	0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	rs397508442	0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)	rs139729994	0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)	rs72552758	0.00004
NM_000527.5(LDLR):c.1359-5C>G	rs531005522	0.00004
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu)	rs369943481	0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)	rs540287433	0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	rs377178986	0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile)	rs201753350	0.00004
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)	rs372321790	0.00004
NM_000553.6(WRN):c.3881C>T (p.Ala1294Val)	rs146861737	0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)	rs543320028	0.00004
NM_001012338.3(NTRK3):c.278C>T (p.Thr93Met)	rs147992979	0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	rs765123255	0.00004
NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr)	rs369432845	0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	rs28931569	0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)	rs587780353	0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)	rs372425457	0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)	rs63750428	0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	rs112735431	0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn)	rs140313320	0.00004
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)	rs745608560	0.00004
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln)	rs781326398	0.00004
NM_001918.5(DBT):c.1018-550A>G	rs796052135	0.00004
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)	rs372754256	0.00004
NM_002691.4(POLD1):c.1383+8C>T	rs374719944	0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)	rs587781813	0.00004
NM_002907.4(RECQL):c.426del (p.Met144fs)	rs753723230	0.00004
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter)	rs572725483	0.00004
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)	rs587782549	0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)	rs35572355	0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)	rs766085073	0.00004
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser)	rs140510381	0.00004
NM_005228.5(EGFR):c.2710G>A (p.Val904Ile)	rs538497054	0.00004
NM_005228.5(EGFR):c.739G>A (p.Asp247Asn)	rs780001754	0.00004
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)	rs28936382	0.00004
NM_005431.2(XRCC2):c.581C>T (p.Thr194Met)	rs775565256	0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)	rs587781384	0.00004
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)	rs1364709483	0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln)	rs754518522	0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser)	rs150545516	0.00004
NM_007144.3(PCGF2):c.265+8C>T	rs767116828	0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)	rs370968992	0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)	rs56272539	0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)	rs273898682	0.00004
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)	rs80356899	0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)	rs80357013	0.00004
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro)	rs80356909	0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)	rs80357442	0.00004
NM_007294.4(BRCA1):c.81-11del	rs273902788	0.00004
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)	rs771311008	0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val)	rs546866208	0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)	rs377767417	0.00004
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp)	rs28931604	0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)	rs753666055	0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)	rs377085677	0.00004
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)	rs756116550	0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)	rs62625272	0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)	rs376641234	0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	rs367707903	0.00004
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His)	rs202203360	0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)	rs768633670	0.00004
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)	rs777820729	0.00003
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)	rs369834416	0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)	rs754691867	0.00003
NM_000038.6(APC):c.647G>A (p.Arg216Gln)	rs76685252	0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser)	rs772806807	0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)	rs369264968	0.00003
NM_000038.6(APC):c.848G>A (p.Arg283Gln)	rs149154604	0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)	rs730881353	0.00003
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)	rs80358442	0.00003
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)	rs80358457	0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)	rs28897721	0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)	rs28897722	0.00003
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)	rs28897723	0.00003
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)	rs80358698	0.00003
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)	rs80358784	0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)	rs80358916	0.00003
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)	rs80358985	0.00003
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)	rs80359194	0.00003
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)	rs80359220	0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)	rs756467921	0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)	rs375422404	0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	rs567564095	0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)	rs780335726	0.00003
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)	rs63749973	0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)	rs199473011	0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)	rs104895201	0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)	rs56170584	0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)	rs375471260	0.00003
NM_000266.4(NDP):c.58G>A (p.Gly20Arg)	rs200594881	0.00003
NM_000314.8(PTEN):c.-799G>C	rs587779992	0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	rs61751406	0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)	rs151206295	0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)	rs137852342	0.00003
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr)	rs773957702	0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)	rs540008835	0.00003
NM_000455.5(STK11):c.374+9T>A	rs762297795	0.00003
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)	rs201032007	0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	rs587780021	0.00003
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)	rs556880586	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)	rs201124247	0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)	rs149790377	0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	rs373885282	0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)	rs139729994	0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	rs730882109	0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	rs368657165	0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)	rs139647387	0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His)	rs371524413	0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)	rs45485591	0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	rs121908097	0.00003
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)	rs374191985	0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)	rs779727341	0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)	rs2808001	0.00003
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile)	rs183007628	0.00003
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)	rs750066836	0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	rs763028732	0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)	rs888739369	0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	rs1326370032	0.00003
NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys)	rs140157424	0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)	rs121918807	0.00003
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)	rs758395213	0.00003
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile)	rs397516686	0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys)	rs200157211	0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)	rs758195453	0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter)	rs121909626	0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)	rs387906843	0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)	rs386134194	0.00003
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)	rs752452731	0.00003
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)	rs139624629	0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	rs201217593	0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)	rs36087757	0.00003
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)	rs368492235	0.00003
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)	rs769076258	0.00003
NM_004360.5(CDH1):c.671G>A (p.Arg224His)	rs201511530	0.00003
NM_005228.5(EGFR):c.345T>A (p.Asn115Lys)	rs773596817	0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)	rs755312472	0.00003
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)	rs80357357	0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)	rs80357079	0.00003
NM_007294.4(BRCA1):c.5333-8C>T	rs80358084	0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)	rs80357244	0.00003
NM_013447.4(ADGRE2):c.1876C>T (p.Leu626Phe)	rs145425662	0.00003
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)	rs148810507	0.00003
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)	rs200956659	0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln)	rs370736139	0.00003
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)	rs368299411	0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)	rs587780214	0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)	rs376306240	0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)	rs45512798	0.00003
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)	rs587781860	0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)	rs371947306	0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)	rs727504654	0.00003
NM_000038.6(APC):c.1589T>C (p.Val530Ala)	rs202199891	0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)	rs756859993	0.00002
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)	rs551183536	0.00002
NM_000038.6(APC):c.7495G>C (p.Val2499Leu)	rs33941929	0.00002
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys)	rs587783036	0.00002
NM_000045.4(ARG1):c.3G>A (p.Met1Ile)	rs745624953	0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)	rs377280518	0.00002
NM_000051.4(ATM):c.1237C>T (p.Leu413=)	rs1565381686	0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)	rs538452060	0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)	rs148064985	0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	rs587782292	0.00002
NM_000057.4(BLM):c.3019+17T>C	rs532036885	0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)	rs55853199	0.00002
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)	rs397507603	0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)	rs55962656	0.00002
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)	rs80358575	0.00002
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)	rs80358603	0.00002
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)	rs80358626	0.00002
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)	rs587776466	0.00002
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)	rs397507875	0.00002
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)	rs587782191	0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)	rs80359078	0.00002
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)	rs76635144	0.00002
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)	rs587778188	0.00002
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)	rs772512477	0.00002
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)	rs376411022	0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=)	rs533540262	0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)	rs759284637	0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	rs933624223	0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)	rs104894833	0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)	rs63750836	0.00002
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu)	rs776710796	0.00002
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)	rs190405488	0.00002
NM_000245.4(MET):c.1640G>A (p.Arg547Gln)	rs761951444	0.00002
NM_000245.4(MET):c.3054C>T (p.Asn1018=)	rs369148519	0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=)	rs63750032	0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)	rs587780687	0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)	rs1242741686	0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)	rs965316043	0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)	rs587781273	0.00002
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg)	rs374157786	0.00002
NM_000330.4(RS1):c.185-3188G>A	rs267608665	0.00002
NM_000382.3(ALDH3A2):c.1443+1G>A	rs199548781	0.00002
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)	rs72551349	0.00002
NM_000465.4(BARD1):c.1569-13C>G	rs587780018	0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	rs121908753	0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)	rs397508300	0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val)	rs397508328	0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=)	rs397508773	0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)	rs111272095	0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	rs11540652	0.00002
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)	rs144064367	0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)	rs199474739	0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	rs34126013	0.00002
NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu)	rs34377097	0.00002
NM_001079866.2(BCS1L):c.-50+405A>G	rs898301590	0.00002
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)	rs560905645	0.00002
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)	rs765763663	0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)	rs527236067	0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)	rs979416826	0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)	rs782757170	0.00002
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)	rs201093313	0.00002
NM_002528.7(NTHL1):c.115+1G>A	rs749908882	0.00002
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr)	rs140626260	0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)	rs770931871	0.00002
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)	rs373364873	0.00002
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu)	rs587782359	0.00002
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)	rs570930882	0.00002
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)	rs587782647	0.00002
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu)	rs201249977	0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	rs113994204	0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)	rs371657037	0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)	rs80356895	0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)	rs80356876	0.00002
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His)	rs80357341	0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)	rs80356968	0.00002
NM_007294.4(BRCA1):c.5074+6C>G	rs80358032	0.00002
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)	rs80357264	0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)	rs191373374	0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)	rs80357323	0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)	rs397509327	0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys)	rs778531326	0.00002
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)	rs368482584	0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)	rs777028011	0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)	rs754309202	0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)	rs749494645	0.00002
NM_030662.4(MAP2K2):c.787G>A (p.Gly263Arg)	rs730880522	0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu)	rs752866643	0.00002
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)	rs763862849	0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)	rs267606997	0.00002
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)	rs200575329	0.00002
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro)	rs192346335	0.00002
NM_201548.5(CERKL):c.481+2T>G	rs753994107	0.00002
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	rs770273135	0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)	rs202216257	0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His)	rs180177162	0.00001
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)	rs1557052306	0.00001
NM_000038.6(APC):c.1580G>C (p.Arg527Thr)	rs1554081889	0.00001
NM_000038.6(APC):c.2642C>T (p.Ser881Phe)	rs535344579	0.00001
NM_000038.6(APC):c.3910A>G (p.Ile1304Val)	rs770157475	0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)	rs587779796	0.00001
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)	rs1057517549	0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	rs757109353	0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	rs28940585	0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)	rs202173660	0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)	rs149911447	0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)	rs201780199	0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)	rs587782506	0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)	rs56399311	0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=)	rs775850434	0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)	rs774281788	0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)	rs767670019	0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)	rs587781894	0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)	rs148061139	0.00001
NM_000053.4(ATP7B):c.51+4A>T	rs369488210	0.00001
NM_000057.4(BLM):c.3875-2A>G	rs150421256	0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)	rs80358389	0.00001
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)	rs397507568	0.00001
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)	rs760559435	0.00001
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)	rs80358439	0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=)	rs554040246	0.00001
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys)	rs431825298	0.00001
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)	rs80358530	0.00001
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)	rs397507296	0.00001
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)	rs80358541	0.00001
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val)	rs80358554	0.00001
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)	rs80358599	0.00001
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)	rs80358618	0.00001
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)	rs80358624	0.00001
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=)	rs276174840	0.00001
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile)	rs276174863	0.00001
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)	rs80358820	0.00001
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr)	rs1060502377	0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)	rs56191579	0.00001
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)	rs80359581	0.00001
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)	rs80358880	0.00001
NM_000059.4(BRCA2):c.6842-19A>G	rs81002865	0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)	rs80358921	0.00001
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile)	rs80358955	0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)	rs80358968	0.00001
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln)	rs80358973	0.00001
NM_000059.4(BRCA2):c.7618-19G>T	rs371417084	0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)	rs431825358	0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)	rs80359018	0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)	rs80359800	0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)	rs80359035	0.00001
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)	rs786204274	0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)	rs80359075	0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)	rs80359076	0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)	rs80359104	0.00001
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser)	rs80359122	0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)	rs80359127	0.00001
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly)	rs80359132	0.00001
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=)	rs80359804	0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)	rs80359189	0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	rs28897759	0.00001
NM_000059.4(BRCA2):c.9645T>A (p.Leu3215=)	rs755111487	0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)	rs11571640	0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	rs772226819	0.00001
NM_000088.4(COL1A1):c.1875+3G>T	rs138164489	0.00001
NM_000092.5(COL4A4):c.735G>A (p.Pro245=)	rs923865420	0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)	rs782198570	0.00001
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)	rs886052487	0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)	rs79184941	0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)	rs1200769534	0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	rs387906952	0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)	rs1349064845	0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)	rs869312919	0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	rs139851890	0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)	rs397515869	0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)	rs1554648117	0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)	rs63751098	0.00001
NM_000179.3(MSH6):c.2400T>C (p.Val800=)	rs267608071	0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=)	rs367758473	0.00001
NM_000179.3(MSH6):c.3936T>C (p.Val1312=)	rs61753796	0.00001
NM_000179.3(MSH6):c.533G>A (p.Arg178His)	rs786204186	0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro)	rs794727239	0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	rs794726878	0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)	rs104895128	0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)	rs104895102	0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	rs104895163	0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	rs104895154	0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)	rs104895130	0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	rs104895080	0.00001
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)	rs772245091	0.00001
NM_000249.4(MLH1):c.1896+7C>T	rs863224339	0.00001
NM_000249.4(MLH1):c.1990-6G>A	rs117221851	0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)	rs776174711	0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)	rs587781314	0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)	rs63749841	0.00001
NM_000251.3(MSH2):c.459C>T (p.Ser153=)	rs63751065	0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)	rs1052471595	0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)	rs772565983	0.00001
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr)	rs1046046139	0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)	rs121964958	0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)	rs145877597	0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)	rs149530060	0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=)	rs786201280	0.00001
NM_000321.3(RB1):c.784C>T (p.Arg262Trp)	rs556201144	0.00001
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	rs61751383	0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)	rs77464996	0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)	rs776386313	0.00001
NM_000374.5(UROD):c.425G>A (p.Arg142Gln)	rs1182234844	0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)	rs771824413	0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)	rs200620134	0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_000423.3(KRT2):c.1630C>T (p.Arg544Ter)	rs571471637	0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)	rs753942596	0.00001
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys)	rs148425972	0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)	rs587782032	0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)	rs74315479	0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)	rs774945680	0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)	rs1057517068	0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)	rs397508444	0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	rs397508461	0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)	rs144781064	0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)	rs397508600	0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)	rs121909040	0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)	rs397508607	0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)	rs397508674	0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)	rs397508699	0.00001
NM_000492.4(CFTR):c.4242+1G>T	rs372227120	0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)	rs121908803	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)	rs193922532	0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)	rs75763344	0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	rs28942071	0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)	rs104894248	0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)	rs755667663	0.00001
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys)	rs2077458389	0.00001
NM_000527.5(LDLR):c.313+2T>C	rs793888517	0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)	rs121964960	0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)	rs1060503111	0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)	rs1554935669	0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	rs121912664	0.00001
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln)	rs375338359	0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	rs28934574	0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val)	rs377715747	0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)	rs1406298698	0.00001
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys)	rs767480544	0.00001
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp)	rs1445290655	0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	rs121909090	0.00001
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)	rs1243531358	0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)	rs770792767	0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)	rs773378630	0.00001
NM_001048174.2(MUTYH):c.264+10C>T	rs369242529	0.00001
NM_001048174.2(MUTYH):c.493-5A>G	rs758377868	0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)	rs558173961	0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)	rs199422117	0.00001
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg)	rs371117662	0.00001
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile)	rs375716771	0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)	rs1305702728	0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)	rs948998853	0.00001
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile)	rs745378416	0.00001
NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg)	rs780870758	0.00001
NM_001205293.3(CACNA1E):c.1883+9C>G	rs1488129029	0.00001
NM_001211.6(BUB1B):c.585A>G (p.Gln195=)	rs1595518738	0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)	rs753314164	0.00001
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)	rs397514563	0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)	rs1057519447	0.00001
NM_001291088.2(WDR87):c.5282A>T (p.Glu1761Val)	rs917453243	0.00001
NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His)	rs1330420689	0.00001
NM_001330195.2(NRXN3):c.3142+3A>G	rs531047390	0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)	rs752737867	0.00001
NM_001360.3(DHCR7):c.889A>C (p.Ile297Leu)	rs1085307926	0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)	rs782308266	0.00001
NM_001370658.1(BTD):c.250-15del	rs587783008	0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	rs375712490	0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	rs119103232	0.00001
NM_001374828.1(ARID1B):c.1319G>C (p.Gly440Ala)	rs1332073619	0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)	rs1275113273	0.00001
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)	rs1398433261	0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)	rs1392934477	0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro)	rs1663813561	0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)	rs751549678	0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)	rs1237032588	0.00001
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter)	rs1580035037	0.00001
NM_002485.5(NBN):c.171+4T>C	rs587782290	0.00001
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly)	rs199792522	0.00001
NM_002691.4(POLD1):c.3120+6A>G	rs1231856737	0.00001
NM_002691.4(POLD1):c.317-5C>T	rs768082423	0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	rs140079523	0.00001
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)	rs749922511	0.00001
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr)	rs758461304	0.00001
NM_002907.4(RECQL):c.1382A>G (p.His461Arg)	rs201573409	0.00001
NM_002968.3(SALL1):c.220G>A (p.Val74Ile)	rs529479120	0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)	rs370777371	0.00001
NM_003240.5(LEFTY2):c.1030C>A (p.Pro344Thr)	rs777139964	0.00001
NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu)	rs2087135251	0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)	rs587784347	0.00001
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs)	rs781171287	0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly)	rs922800309	0.00001
NM_003846.3(PEX11B):c.1A>G (p.Met1Val)	rs782262926	0.00001
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser)	rs772652517	0.00001
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)	rs386833844	0.00001
NM_004284.6(CHD1L):c.1551A>G (p.Ile517Met)	rs376783101	0.00001
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met)	rs587782856	0.00001
NM_004360.5(CDH1):c.2358C>T (p.Asp786=)	rs760701558	0.00001
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)	rs34507583	0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)	rs148166625	0.00001
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile)	rs587778249	0.00001
NM_005228.5(EGFR):c.292C>T (p.Arg98Ter)	rs1794575659	0.00001
NM_005228.5(EGFR):c.869C>T (p.Thr290Ile)	rs1020654485	0.00001
NM_005429.5(VEGFC):c.1156C>T (p.Arg386Trp)	rs370465436	0.00001
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter)	rs1406678014	0.00001
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys)	rs567563179	0.00001
NM_006231.4(POLE):c.1359+4C>T	rs752118019	0.00001
NM_006231.4(POLE):c.3582+7G>A	rs558837073	0.00001
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys)	rs985504177	0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys)	rs749992643	0.00001
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp)	rs866548835	0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)	rs786205211	0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)	rs28940280	0.00001
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)	rs80359815	0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)	rs201579632	0.00001
NM_006946.4(SPTBN2):c.913C>T (p.Arg305Cys)	rs372293906	0.00001
NM_007059.4(KPTN):c.428C>T (p.Pro143Leu)	rs372955218	0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)	rs28909980	0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)	rs371418985	0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)	rs587781652	0.00001
NM_007194.4(CHEK2):c.592+3A>T	rs587782849	0.00001
NM_007194.4(CHEK2):c.792+2T>C	rs545982789	0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)	rs587782460	0.00001
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr)	rs80357488	0.00001
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=)	rs786201323	0.00001
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=)	rs756211343	0.00001
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile)	rs876659731	0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)	rs80356911	0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)	rs80357049	0.00001
NM_007294.4(BRCA1):c.3432G>A (p.Gln1144=)	rs80356922	0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)	rs80357272	0.00001
NM_007294.4(BRCA1):c.3601G>A (p.Gly1201Ser)	rs55725337	0.00001
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)	rs80357388	0.00001
NM_007294.4(BRCA1):c.4096+1G>A	rs80358178	0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)	rs78951648	0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)	rs80357486	0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)	rs80356943	0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)	rs80357048	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_007294.4(BRCA1):c.5332+15G>C	rs80358148	0.00001
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)	rs755427809	0.00001
NM_007294.4(BRCA1):c.755G>A (p.Arg252His)	rs80357138	0.00001
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)	rs80357464	0.00001
NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter)	rs1554847435	0.00001
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val)	rs1585339231	0.00001
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys)	rs775551492	0.00001
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp)	rs755575416	0.00001
NM_013447.4(ADGRE2):c.1805T>C (p.Ile602Thr)	rs534741485	0.00001
NM_013447.4(ADGRE2):c.248C>T (p.Ser83Leu)	rs201617124	0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)	rs139805032	0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)	rs780184251	0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)	rs773371488	0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)	rs551541795	0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)	rs773601814	0.00001
NM_015909.4(NBAS):c.680A>C (p.His227Pro)	rs748880753	0.00001
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter)	rs200567842	0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter)	rs899399494	0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile)	rs756953958	0.00001
NM_017649.5(CNNM2):c.595G>A (p.Ala199Thr)	rs984170802	0.00001
NM_018196.4(TMLHE):c.359-2A>G	rs782792356	0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)	rs587779411	0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)	rs936681187	0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr)	rs1554619514	0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)	rs183784665	0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)	rs527726480	0.00001
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)	rs1003057639	0.00001
NM_020987.5(ANK3):c.8174G>A (p.Gly2725Asp)	rs993289778	0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)	rs1375601977	0.00001
NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser)	rs74315350	0.00001
NM_024675.4(PALB2):c.108+1G>A	rs1060499814	0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=)	rs190489275	0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)	rs756778249	0.00001
NM_024675.4(PALB2):c.1923A>G (p.Lys641=)	rs775283927	0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)	rs587778586	0.00001
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)	rs763191051	0.00001
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)	rs370908330	0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=)	rs200937538	0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)	rs758732081	0.00001
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)	rs764053964	0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)	rs773489367	0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)	rs764803896	0.00001
NM_032119.4(ADGRV1):c.5857A>G (p.Ser1953Gly)	rs1425873975	0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)	rs121912642	0.00001
NM_033453.4(ITPA):c.488+1G>A	rs1380443187	0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)	rs1335391766	0.00001
NM_054012.4(ASS1):c.175-1119G>A	rs1488840592	0.00001
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)	rs577852020	0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)	rs369292828	0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	rs28940313	0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)	rs780598553	0.00001
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln)	rs984651812	0.00001
NM_170606.3(KMT2C):c.10759C>G (p.Gln3587Glu)	rs567451018	0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter)	rs786205162	0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu)	rs936922976	0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	rs751599203	0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)	rs1003615909	0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	rs202175091	0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)	rs754374132	0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	rs764182950	0.00001
NC_000018.9:g.77748581_77748614del34	rs535089924
NC_012920.1(MT-CYB):m.12258C>T	rs118203888
NC_012920.1(MT-CYB):m.12264C>T	rs1603223642
NC_012920.1(MT-CYB):m.1630A>G	rs1603218588
NC_012920.1(MT-CYB):m.1659T>C	rs1603218609
NC_012920.1:m.13051G>A	rs1131692063
NC_012920.1:m.3243A>G	rs199474657
NC_012920.1:m.5631G>A	rs786200950
NC_012920.1:m.8851T>C	rs199476136
NC_012920.1:m.8993T>G	rs199476133
NC_012920.1:m.9176T>C	rs199476135
NC_012920.1:m.9185T>C	rs199476138
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter)	rs754833969
NM_000016.6(ACADM):c.387+1del	rs786204424
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)	rs2309689
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)	rs794727112
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	rs765432568
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	rs200166783
NM_000026.4(ADSL):c.581G>A (p.Arg194His)	rs755359802
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)	rs1601586359
NM_000033.4(ABCD1):c.1489-6del	rs398123101
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	rs1569541088
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)	rs201774661
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)	rs78993751
NM_000033.4(ABCD1):c.1866-10G>A	rs398123108
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)	rs2148399201
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)	rs1603231848
NM_000038.6(APC):c.1773C>G (p.Ala591=)	rs1580603391
NM_000038.6(APC):c.2385_2386del (p.Tyr796fs)	rs1561576666
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)	rs386833391
NM_000038.6(APC):c.423-3T>A	rs587782293
NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del)	rs587782888
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)	rs72541813
NM_000038.6(APC):c.5723A>G (p.Asn1908Ser)	rs1064795748
NM_000038.6(APC):c.7391C>G (p.Ser2464Cys)	rs766473931
NM_000038.6(APC):c.7942G>A (p.Ala2648Thr)	rs1195417407
NM_000038.6(APC):c.904C>T (p.Arg302Ter)	rs137854568
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)	rs778993919
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)	rs3032358
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)	rs1451472748
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)	rs1310996698
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)	rs2112530498
NM_000051.4(ATM):c.1065+1G>T	rs201089102
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe)	rs1591522756
NM_000051.4(ATM):c.4612-12A>T	rs1326401118
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly)	rs1565463405
NM_000051.4(ATM):c.497-1G>T	rs778624615
NM_000051.4(ATM):c.513C>T (p.Tyr171=)	rs786201693
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)	rs587781730
NM_000051.4(ATM):c.6347+31del	rs58978479
NM_000051.4(ATM):c.640del (p.Ser214fs)	rs786204543
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)	rs556778314
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg)	rs1591142078
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)	rs150503164
NM_000051.4(ATM):c.7629+12_7629+15del	rs1555124156
NM_000051.4(ATM):c.7789-3T>G	rs864622185
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)	rs267606668
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	rs587782719
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	rs587780645
NM_000053.4(ATP7B):c.2575+1G>A	rs766149114
NM_000053.4(ATP7B):c.3061-12T>A	rs1045194246
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)	rs587783315
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)	rs1557100594
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
NM_000057.4(BLM):c.298_299del (p.Gln100fs)	rs745807085
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)	rs367543029
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)	rs1567060305
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.-39-5del	rs276174800
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)	rs730881600
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)	rs80358418
NM_000059.4(BRCA2):c.1504A>C (p.Lys502Gln)	rs276174809
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)	rs587782713
NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val)	rs876661280
NM_000059.4(BRCA2):c.1909+22del	rs276174816
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)	rs80358495
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)	rs80358507
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)	rs28897716
NM_000059.4(BRCA2):c.316+5G>A	rs81002840
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)	rs80359406
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)	rs28897731
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)	rs587782007
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter)	rs886040610
NM_000059.4(BRCA2):c.6039del (p.Val2014fs)	rs876660637
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val)	rs786202701
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)	rs80358852
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly)	rs398122550
NM_000059.4(BRCA2):c.6362A>G (p.Glu2121Gly)	rs397507846
NM_000059.4(BRCA2):c.6532C>A (p.His2178Asn)	rs80358885
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val)	rs980859921
NM_000059.4(BRCA2):c.68-2A>G	rs769152395
NM_000059.4(BRCA2):c.6938-1G>A	rs886040936
NM_000059.4(BRCA2):c.738del (p.Phe246fs)	rs1566221413
NM_000059.4(BRCA2):c.7618-10T>G	rs864622573
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del)	rs80359682
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)	rs80359024
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)	rs431825362
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)	rs28897750
NM_000059.4(BRCA2):c.8488-1G>A	rs397507404
NM_000059.4(BRCA2):c.8754+9G>A	rs749435255
NM_000059.4(BRCA2):c.8755-1G>A	rs81002812
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)	rs28897754
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val)	rs397508016
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)	rs587782779
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)	rs80359156
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)	rs80359167
NM_000059.4(BRCA2):c.9257-8C>T	rs11571819
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His)	rs80359209
NM_000059.4(BRCA2):c.9375C>G (p.Leu3125=)	rs276174924
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)	rs55939572
NM_000063.6(C2):c.841_849+19del	rs9332736
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)	rs372266620
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)	rs104894094
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)	rs6413463
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)	rs190148408
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)	rs1835194794
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)	rs786205100
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)	rs1601054002
NM_000096.4(CP):c.2756T>C (p.Leu919Pro)	rs1135401784
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)	rs28936673
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup)	rs121913031
NM_000132.4(F8):c.1468A>G (p.Arg490Gly)	rs1603435026
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	rs370974124
NM_000136.3(FANCC):c.345+4AG[2]	rs755657969
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)	rs1555395001
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)	rs3848519
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)	rs1057519042
NM_000143.4(FH):c.1237-50TC[20]	rs144131869
NM_000143.4(FH):c.1237-50TC[21]	rs144131869
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000151.4(G6PC1):c.511del (p.Ile171fs)	rs1597990895
NM_000151.4(G6PC1):c.563-3C>G	rs1597991608
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)	rs2039149745
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)	rs746922378
NM_000155.2(GALT):c.-119_-116delGTCA	rs111033640
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)	rs111033836
NM_000155.4(GALT):c.2T>C (p.Met1Thr)	rs771702963
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000155.4(GALT):c.820+13A>G	rs111033768
NM_000159.4(GCDH):c.91+5G>A	rs952356983
NM_000161.3(GCH1):c.305T>C (p.Met102Thr)	rs2140127042
NM_000162.5(GCK):c.737G>A (p.Gly246Glu)	rs1583596522
NM_000163.5(GHR):c.484G>A (p.Val162Ile)	rs6413484
NM_000166.6(GJB1):c.394_395del (p.Trp132fs)	rs1555937168
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)	rs1555937244
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)	rs727504348
NM_000170.3(GLDC):c.2316-6dup	rs3215923
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)	rs386833566
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)	rs386833585
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)	rs267608064
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)	rs1553414395
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)	rs576269342
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)	rs3136351
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)	rs864622397
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)	rs876661222
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)	rs1553333753
NM_000179.3(MSH6):c.4001+27TAAC[3]	rs267608136
NM_000179.3(MSH6):c.4001+2TAAC[2]	rs267608132
NM_000179.3(MSH6):c.4001+4_4001+8dup	rs587782853
NM_000179.3(MSH6):c.457+32TG[12]	rs397839804
NM_000179.3(MSH6):c.818G>T (p.Gly273Val)	rs769610487
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)	rs587781510
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)	rs536814318
NM_000191.3(HMGCL):c.230del (p.Val77fs)	rs1638632303
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)	rs62620232
NM_000208.4(INSR):c.4133G>A (p.Arg1378Gln)	rs52826008
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)	rs137852787
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)	rs149452625
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)	rs104893871
NM_000232.5(SGCB):c.753+5G>A	rs936193061
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)	rs11466026
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	rs104895083
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)	rs104895100
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)	rs104895089
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)	rs104895091
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)	rs150819742
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)	rs104895179
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)	rs104895127
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)	rs104895111
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)	rs104895138
NM_000249.3(MLH1):c.-107C>G	rs587778886
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)	rs147939838
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del)	rs587778920
NM_000249.4(MLH1):c.1667+2T>C	rs878853780
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)	rs63750449
NM_000249.4(MLH1):c.2262del (p.Arg755fs)	rs267607904
NM_000249.4(MLH1):c.588+5G>C	rs267607768
NM_000249.4(MLH1):c.885-21TC[2]	rs267607804
NM_000251.2(MSH2):c.-68G>A	rs576303132
NM_000251.3(MSH2):c.1661+1G>A	rs267607969
NM_000251.3(MSH2):c.1661+1G>T	rs267607969
NM_000251.3(MSH2):c.2005+8dup	rs267607992
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro)	rs1318630651
NM_000251.3(MSH2):c.2459-12A>G	rs267608012
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg)	rs267608022
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)	rs267607919
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)	rs748762580
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)	rs372619120
NM_000251.3(MSH2):c.942+23_942+29del	rs11309117
NM_000251.3(MSH2):c.942+25_942+29del	rs11309117
NM_000251.3(MSH2):c.942+28_942+29del	rs11309117
NM_000251.3(MSH2):c.942+29del	rs11309117
NM_000251.3(MSH2):c.942+29dup	rs11309117
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)	rs63750828
NM_000256.3(MYBPC3):c.3628-41_3628-17del	rs36212066
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)	rs763538103
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)	rs200454015
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)	rs530520654
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)	rs111033287
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del)	rs1588578556
NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del)	rs756897237
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)	rs1261939149
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)	rs749012588
NM_000271.5(NPC1):c.57+4A>G	rs1057519229
NM_000277.3(PAH):c.168+5G>A	rs62507288
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)	rs77554925
NM_000282.4(PCCA):c.1994dup (p.Met666fs)	rs1323994245
NM_000282.4(PCCA):c.843del (p.Asn281fs)	rs1555400381
NM_000285.4(PEPD):c.692_694del (p.Tyr231del)	rs745834191
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)	rs1601781031
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)	rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)	rs1324893950
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)	rs143370956
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)	rs112030253
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)	rs750077647
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)	rs387906824
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)	rs1555453238
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3])	rs138688873
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)	rs7614835
NM_000314.8(PTEN):c.-513G>C	rs546504608
NM_000314.8(PTEN):c.-802G>A	rs876661166
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)	rs1554826024
NM_000314.8(PTEN):c.209+2T>C	rs878853937
NM_000314.8(PTEN):c.210-7_210-3del	rs587780544
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)	rs869312775
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)	rs786204929
NM_000314.8(PTEN):c.577C>T (p.Leu193=)	rs772631069
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)	rs797044910
NM_000314.8(PTEN):c.80-1_80del	rs1554893747
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)	rs1554893765
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp)	rs587778834
NM_000321.3(RB1):c.2212-9C>A	rs765386327
NM_000321.3(RB1):c.32_63del (p.Ala11fs)	rs1593411974
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)	rs121918567
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)	rs61748432
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	rs1553152989
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)	rs1193631220
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys)	rs376659221
NM_000337.6(SGCD):c.699+13_699+15del	rs397517924
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del)	rs761585795
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)	rs1557787473
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	rs61748529
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	rs387906385
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)	rs281865382
NM_000352.6(ABCC8):c.4412-13G>A	rs1008906426
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	rs863225280
NM_000353.3(TAT):c.707-2A>G	rs1005382525
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)	rs121909212
NM_000360.4(TH):c.628G>A (p.Ala210Thr)	rs1260455415
NM_000360.4(TH):c.724C>T (p.Leu242Phe)	rs1457094087
NM_000368.5(TSC1):c.1333+9T>A	rs747629498
NM_000371.4(TTR):c.277A>G (p.Ile93Val)	rs1598845164
NM_000374.5(UROD):c.703C>T (p.Pro235Ser)	rs141312224
NM_000374.5(UROD):c.995G>A (p.Arg332His)	rs121918066
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)	rs562574661
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)	rs1554901784
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)	rs1554902216
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)	rs138967272
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)	rs746844753
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	rs202247790
NM_000432.4(MYL2):c.3+2T>C	rs111373423
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)	rs754554486
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)	rs1599382214
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	rs775836288
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)	rs767540194
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)	rs1314376649
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)	rs375593493
NM_000444.6(PHEX):c.1586+3_1586+6del	rs886042234
NM_000444.6(PHEX):c.332_334del (p.Val111del)	rs1064795949
NM_000444.6(PHEX):c.591A>G (p.Gln197=)	rs1556020818
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)	rs1568811454
NM_000455.5(STK11):c.-107dup	rs927999961
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)	rs368466538
NM_000455.5(STK11):c.465-4G>A	rs587780009
NM_000455.5(STK11):c.863-5C>T	rs1599928248
NM_000455.5(STK11):c.920+1G>A	rs1131690920
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)	rs28997575
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)	rs876660390
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)	rs1057517589
NM_000465.4(BARD1):c.1788del (p.Lys596fs)	rs1574739005
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)	rs76744638
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)	rs753221440
NM_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.3(CFTR):c.1210-12T[9]	rs1805177
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)	rs397508139
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)	rs397508141
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)	rs1562892293
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)	rs1800086
NM_000492.4(CFTR):c.1209+1G>T	rs397508176
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)	rs367934560
NM_000492.4(CFTR):c.1317T>G (p.Pro439=)	rs1562895052
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)	rs397508204
NM_000492.4(CFTR):c.164+2dup	rs1554375870
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)	rs1800097
NM_000492.4(CFTR):c.1766+3A>C	rs397508298
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)	rs121909012
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)	rs397508395
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)	rs397508422
NM_000492.4(CFTR):c.2989-1G>A	rs397508470
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)	rs397508472
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	rs121908767
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)	rs397508498
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)	rs397508533
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	rs397508535
NM_000492.4(CFTR):c.3367+1G>A	rs1470125842
NM_000492.4(CFTR):c.3368-2A>G	rs755416052
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)	rs397508555
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)	rs1562919371
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)	rs397508615
NM_000492.4(CFTR):c.3874-1G>A	rs397508624
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)	rs397508634
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	rs397508635
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)	rs113857788
NM_000492.4(CFTR):c.4136+1G>A	rs1562928997
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	rs397508709
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)	rs397508725
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)	rs397508731
NM_000492.4(CFTR):c.488del (p.Lys163fs)	rs1554379899
NM_000492.4(CFTR):c.53+1G>T	rs397508746
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)	rs397508759
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)	rs202242769
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)	rs184649564
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)	rs761470205
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)	rs1248299502
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)	rs1597515555
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)	rs727503946
NM_000512.5(GALNS):c.426T>A (p.His142Gln)	rs754616917
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)	rs794729202
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)	rs761725425
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)	rs569725936
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)	rs33961886
NM_000520.6(HEXA):c.611A>G (p.His204Arg)	rs121907976
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)	rs758166013
NM_000522.5(HOXA13):c.381CGC[5] (p.Ala133del)	rs955237055
NM_000524.4(HTR1A):c.-480del	rs367956927
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)	rs746959386
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)	rs146651743
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000531.6(OTC):c.867G>A (p.Lys289=)	rs72558456
NM_000532.5(PCCB):c.1091-8_1091-3del	rs1249235758
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)	rs397507445
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)	rs755776820
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)	rs760499581
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)	rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	rs63750668
NM_000535.7(PMS2):c.1721del (p.Pro574fs)	rs1583316404
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	rs587779335
NM_000535.7(PMS2):c.706-4del	rs60794673
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	rs28933394
NM_000539.3(RHO):c.509C>G (p.Pro170Arg)	rs1553781176
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu)	rs1600921854
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	rs150396398
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val)	rs1599646668
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val)	rs756850145
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	rs118192170
NM_000545.8(HNF1A):c.-124G>C	rs563304627
NM_000546.6(TP53):c.145G>C (p.Asp49His)	rs587780728
NM_000546.6(TP53):c.256G>A (p.Ala86Thr)	rs587782148
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)	rs201382018
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)	rs730881999
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)	rs28934874
NM_000546.6(TP53):c.66A>G (p.Leu22=)	rs748527030
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)	rs193920774
NM_000546.6(TP53):c.818G>A (p.Arg273His)	rs28934576
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	rs730882008
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	rs45517179
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)	rs137854239
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5212del (p.Ser1738fs)	rs1596460606
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	rs373068386
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)	rs398123482
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)	rs368366214
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)	rs61749368
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)	rs149834874
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)	rs1553187237
NM_000642.3(AGL):c.2950-1G>C	rs1057516793
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)	rs2122122610
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)	rs887411374
NM_000718.4(CACNA1B):c.2988CACGGAGAAGGAGGC[1] (p.997TEKEA[1])	rs758502874
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)	rs575583988
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)	rs1470602732
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1])	rs1555111511
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu)	rs797044849
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)	rs886040861
NM_000937.5(POLR2A):c.5428C>T (p.Arg1810Ter)	rs2070732825
NM_000939.4(POMC):c.394C>G (p.Pro132Ala)	rs8192606
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs)	rs762904815
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)	rs587777885
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)	rs139734328
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs)	rs1588121150
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)	rs2072153488
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter)	rs727503943
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)	rs786205208
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)	rs1555458704
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=)	rs72492998
NM_001025295.3(IFITM5):c.-14C>T	rs587776916
NM_001029896.2(WDR45):c.827+1G>T	rs1557083958
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)	rs1588302912
NM_001032221.6(STXBP1):c.579-1G>A	rs1588317190
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)	rs606231198
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe)	rs1565799921
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)	rs1589136659
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)	rs2147190626
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)	rs778783933
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)	rs1131692231
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)	rs769177104
NM_001042492.3(NF1):c.1185+7G>C	rs1322791959
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr)	rs758691069
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)	rs1567847681
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)	rs371544233
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)	rs1597722611
NM_001042492.3(NF1):c.4174-8_4174-6del	rs751729752
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter)	rs758915600
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)	rs1555618566
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=)	rs755137259
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)	rs1597829906
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)	rs771529172
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr)	rs864622647
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)	rs1597625794
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)	rs1135402900
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr)	rs200018583
NM_001042646.3(TRAK1):c.1963+101GGA[12]	rs10634555
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter)	rs932830392
NM_001048174.2(MUTYH):c.493-5A>T	rs758377868
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)	rs587780749
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)	rs104895271
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter)	rs1596528731
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs)	rs1553641476
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)	rs776299562
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile)	rs201941745
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser)	rs1599570613
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)	rs141621969
NM_001099271.2(POC5):c.1336G>A (p.Ala446Thr)	rs34678567
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)	rs1571892196
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)	rs886039472
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	rs267608327
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg)	rs587783107
NM_001110792.2(MECP2):c.62+1G>A	rs786205048
NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro)	rs987032967
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)	rs1849236683
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup)	rs2135114515
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	rs587784440
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)	rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)	rs751455326
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)	rs794729195
NM_001142800.2(EYS):c.1299+5_1299+8del	rs1562140604
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)	rs1582176424
NM_001142800.2(EYS):c.8830del (p.Val2944fs)	rs776526721
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	rs769824975
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)	rs1166245419
NM_001144061.2(COPB1):c.-57-2A>G
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)	rs2307890
NM_001148.6(ANK2):c.2806C>G (p.Leu936Val)	rs786205725
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)	rs1568480054
NM_001164277.2(SLC37A4):c.1124+3_1124+6del	rs782612223
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	rs121908977
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)	rs779909544
NM_001164508.2(NEB):c.1674+2T>C	rs1553603437
NM_001164508.2(NEB):c.19102-10_19102-4del	rs1577576425
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)	rs1575897069
NM_001164508.2(NEB):c.2943G>A (p.Glu981=)	rs398124170
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs)	rs1553543215
NM_001165963.4(SCN1A):c.3429+1G>T	rs1574166948
NM_001165963.4(SCN1A):c.3705+5G>A	rs1060502189
NM_001165963.4(SCN1A):c.4003-1G>A	rs1574007140
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)	rs1573991676
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)	rs1573953706
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)	rs796053036
NM_001170535.3(ATAD3A):c.1361A>G (p.Asn454Ser)	rs2100677960
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)	rs796052811
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly)	rs2147537831
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)	rs141600901
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter)	rs1555043796
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)	rs753324947
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	rs12131800
NM_001231.5(CASQ1):c.448G>T (p.Val150Leu)	rs775466623
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del)	rs10594016
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro)	rs138944426
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)	rs1060503519
NM_001271.4(CHD2):c.3735del (p.Lys1245fs)	rs752940775
NM_001278064.2(GRM1):c.950+8TC[21]	rs72225459
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)	rs1135401808
NM_001282531.3(ADNP):c.2978C>G (p.Pro993Arg)	rs1251589256
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup)	rs577498739
NM_001287.6(CLCN7):c.2021G>A (p.Arg674Gln)	rs758816489
NM_001291088.2(WDR87):c.6889GAGGAGGAGGAGGAAAGG[1] (p.2285EEEEER[3])	rs763153590
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys)	rs2149071722
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)	rs864309503
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg)	rs1802055133
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)	rs1602232972
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly)	rs863225295
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)	rs1555229496
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs)	rs1064793130
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser)	rs1559602593
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)	rs1602126980
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)	rs117500243
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)	rs530719719
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)	rs201510617
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter)	rs758111714
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)	rs1555981717
NM_001367721.1(CASK):c.764G>A (p.Arg255His)	rs587783369
NM_001368894.2(PAX6):c.*21del (p.Ter437=)	rs759391101
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)	rs863224527
NM_001370259.2(MEN1):c.655-6C>G	rs77461664
NM_001370259.2(MEN1):c.784-9G>A	rs794728625
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)	rs2066845
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)	rs397514354
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)	rs750965140
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr)	rs756204684
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter)	rs778875017
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)	rs993001712
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del)	rs773205979
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp)	rs1554093891
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs)	rs749294057
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del)	rs530256606
NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr)	rs1467598370
NM_001374828.1(ARID1B):c.2440G>T (p.Val814Leu)	rs765365713
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup)	rs587779743
NM_001374828.1(ARID1B):c.6793G>A (p.Asp2265Asn)	rs2128398514
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)	rs1057519519
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)	rs794727634
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)	rs63750568
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)	rs1024254683
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)	rs771325235
NM_001378454.1(ALMS1):c.11668+1G>T	rs1181992959
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)	rs34628045
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)	rs2103794046
NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu)	rs754025360
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs)	rs1572163072
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])	rs78227997
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)	rs777686211
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)	rs755653150
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)	rs754521581
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met)	rs564811653
NM_001453.3(FOXC1):c.-429C>G	rs77888940
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)	rs747325717
NM_001715.3(BLK):c.391C>T (p.Arg131Trp)	rs73663163
NM_001776.6(ENTPD1):c.574-6_574-3del	rs1412393736
NM_001844.5(COL2A1):c.1996-9G>A	rs2136555221
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp)	rs2136516779
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	rs121912870
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)	rs587780588
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter)	rs1594535661
NM_001846.4(COL4A2):c.3126del (p.Gly1043fs)	rs1268038830
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)	rs794727419
NM_001903.5(CTNNA1):c.1063-8T>G	rs1581473850
NM_001903.5(CTNNA1):c.1389+10A>T	rs1051113761
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)	rs1570820579
NM_001927.4(DES):c.897+4_897+5del	rs397516699
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)	rs397516706
NM_001953.4(TYMP):c.929-6_929-3del	rs201685922
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs)	rs761519693
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)	rs578184315
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	rs138726443
NM_002016.2(FLG):c.7945del (p.Ser2649fs)	rs538406713
NM_002069.6(GNAI1):c.118G>T (p.Gly40Cys)	rs2116052322
NM_002249.6(KCNN3):c.200AGC[10] (p.Gln77_Gln80del)	rs3831942
NM_002249.6(KCNN3):c.200AGC[11] (p.Gln78_Gln80del)	rs3831942
NM_002249.6(KCNN3):c.200AGC[16] (p.Gln79_Gln80dup)	rs3831942
NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup)	rs3831942
NM_002249.6(KCNN3):c.200AGC[20] (p.Gln75_Gln80dup)	rs3831942
NM_002249.6(KCNN3):c.200AGC[22] (p.Gln73_Gln80dup)	rs3831942
NM_002272.4(KRT4):c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG (p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly)	rs11267392
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)	rs2153074771
NM_002397.5(MEF2C):c.1A>G (p.Met1Val)	rs1432291994
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)	rs1761818173
NM_002435.3(MPI):c.796G>A (p.Glu266Lys)	rs1595822583
NM_002470.4(MYH3):c.3611T>C (p.Leu1204Pro)	rs1057518008
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu)	rs1603483077
NM_002485.5(NBN):c.156_157del (p.Ser53fs)	rs767454740
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)	rs1225178489
NM_002485.5(NBN):c.89del (p.Asn30fs)	rs587781718
NM_002500.5(NEUROD1):c.723C>G (p.His241Gln)	rs561017686
NM_002617.4(PEX10):c.52G>C (p.Asp18His)	rs61750432
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln)	rs1602206653
NM_002653.5(PITX1):c.793G>T (p.Gly265Cys)	rs141612135
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)	rs147911699
NM_002691.4(POLD1):c.2155-5G>A	rs891420901
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr)	rs778990190
NM_002734.5(PRKAR1A):c.349-5T>C	rs1456043929
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser)	rs144422014
NM_002769.5(PRSS1):c.200+1G>A	rs143909348
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)	rs111033566
NM_002778.4(PSAP):c.643A>C (p.Asn215His)	rs121918107
NM_002875.5(RAD51):c.671C>G (p.Ala224Gly)
NM_002878.4(RAD51D):c.1A>G (p.Met1Val)	rs561425038
NM_002880.4(RAF1):c.834+8G>A	rs727504615
NM_002907.4(RECQL):c.120dup (p.Val41fs)	rs745659712
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer)	rs1565570957
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser)	rs864621971
NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His)	rs780314370
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)	rs386134199
NM_003060.4(SLC22A5):c.952-5_955del	rs2126787981
NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del)	rs113070757
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)	rs2086534839
NM_003108.4(SOX11):c.170T>C (p.Met57Thr)	rs2103276340
NM_003239.5(TGFB3):c.171del (p.Glu58fs)	rs1594792466
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	rs35766612
NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del)	rs748325646
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)	rs587783695
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1])	rs587778449
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)	rs201623566
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu)	rs202217665
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup)	rs768814728
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp)	rs2065162324
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln)	rs776713955
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)	rs1451486649
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)	rs71785313
NM_003665.4(FCN3):c.349del (p.Leu117fs)	rs532781899
NM_003722.5(TP63):c.324+7G>A	rs930341004
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)	rs56126236
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val)	rs1011464708
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)	rs1197456861
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)	rs200143780
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter)	rs895755247
NM_004006.3(DMD):c.1098A>T (p.Gly366=)	rs72470507
NM_004006.3(DMD):c.1129del (p.Asp377fs)	rs1602467787
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)	rs1603636541
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs)	rs1603634744
NM_004006.3(DMD):c.264+5G>A	rs398123902
NM_004006.3(DMD):c.3603G>A (p.Lys1201=)	rs1265370991
NM_004006.3(DMD):c.5026-2A>G	rs1569559849
NM_004006.3(DMD):c.7872+1G>A	rs1603445278
NM_004006.3(DMD):c.9649+2dup	rs1602695597
NM_004006.3(DMD):c.9649+5G>C	rs1602695527
NM_004064.5(CDKN1B):c.-31AG[1]	rs774454456
NM_004172.5(SLC1A3):c.745T>G (p.Phe249Val)	rs547834086
NM_004187.5(KDM5C):c.807del (p.Thr270fs)	rs1569278313
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	rs794729219
NM_004360.5(CDH1):c.1008+8G>T	rs990193541
NM_004360.5(CDH1):c.1416C>T (p.Thr472=)	rs139937234
NM_004360.5(CDH1):c.1937-4C>T	rs1057523153
NM_004360.5(CDH1):c.1A>G (p.Met1Val)	rs1555509622
NM_004360.5(CDH1):c.32TGC[4] (p.Leu15del)	rs587782476
NM_004360.5(CDH1):c.48+1G>A	rs1440280370
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser)	rs781513008
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)	rs1574975196
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)	rs756802946
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys)	rs2150312299
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)	rs754418186
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)	rs1561251388
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)	rs549150456
NM_004453.4(ETFDH):c.684+2T>G	rs1580406119
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)	rs74582884
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_004523.4(KIF11):c.1435G>C (p.Glu479Gln)	rs547554309
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly)	rs78599516
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)	rs193922941
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly)	rs386833902
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)	rs386833947
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)	rs1553181282
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn)	rs1256695300
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)	rs1984264748
NM_004999.4(MYO6):c.2751dup (p.Gln918fs)	rs551348450
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	rs1379395211
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs)	rs758657421
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg)	rs755557498
NM_005210.4(CRYGB):c.10-38del	rs3214759
NM_005228.5(EGFR):c.3245T>G (p.Ile1082Arg)	rs1051476261
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)	rs587777699
NM_005378.6(MYCN):c.134dup (p.Glu47fs)	rs780080562
NM_005422.4(TECTA):c.2264dup (p.Asn755fs)	rs1159210445
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs)	rs763401560
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe)	rs775803239
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)	rs1603216989
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg)	rs1603217473
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg)	rs1553354396
NM_005639.3(SYT1):c.926C>T (p.Ser309Phe)	rs2136007588
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)	rs782357237
NM_005859.5(PURA):c.486C>G (p.Asn162Lys)	rs1085307826
NM_005859.5(PURA):c.563T>C (p.Ile188Thr)	rs793888527
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)	rs776969786
NM_006005.3(WFS1):c.1829del (p.Leu610fs)	rs1578611240
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)	rs797045005
NM_006079.5(CITED2):c.114CCA[1] (p.His39del)	rs749590293
NM_006079.5(CITED2):c.574_579del (p.Ser192_Gly193del)	rs751501072
NM_006180.6(NTRK2):c.1195+7A>T	rs949522665
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys)	rs1449637193
NM_006231.4(POLE):c.1520T>C (p.Val507Ala)	rs904849438
NM_006231.4(POLE):c.2065C>T (p.Gln689Ter)	rs2042846526
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)	rs36120395
NM_006231.4(POLE):c.4270G>T (p.Glu1424Ter)	rs575419120
NM_006231.4(POLE):c.5679-3C>T	rs1555221512
NM_006231.4(POLE):c.6334C>T (p.Leu2112=)	rs373443211
NM_006231.4(POLE):c.654dup (p.Val219fs)	rs2136020791
NM_006231.4(POLE):c.999dup (p.Val334fs)	rs2043045437
NM_006236.3(POU3F3):c.1085G>T (p.Arg362Leu)	rs1158292126
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val)	rs121434504
NM_006280.3(SSR4):c.358_359del (p.Arg120fs)	rs794729223
NM_006296.7(VRK2):c.*102_*105dup	rs759217526
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del)	rs1197928094
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)	rs119482084
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)	rs104894386
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)	rs386833975
NM_006545.5(NPRL2):c.932+1G>A	rs1703621639
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs)	rs483352838
NM_006563.5(KLF1):c.809C>G (p.Ser270Trp)	rs558942739
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)	rs756485244
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del)	rs727502780
NM_006940.6(SOX5):c.1681A>C (p.Asn561His)	rs1591908568
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)	rs2052563898
NM_007194.4(CHEK2):c.1188del (p.Val397fs)	rs753159426
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)	rs587782527
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)	rs786203977
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)	rs1346554630
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)	rs752018806
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs)	rs1279136929
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)	rs80358325
NM_007294.4(BRCA1):c.135-5T>C	rs587781916
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val)	rs1397842308
NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg)	rs80357173
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)	rs80358329
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp)	rs587781632
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)	rs28897681
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)	rs56214134
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile)	rs80357475
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)	rs80357260
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly)	rs80356930
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser)	rs80357373
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro)	rs1057518639
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)	rs80357390
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)	rs80358343
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)	rs80358344
NM_007294.4(BRCA1):c.5074+2T>C	rs80358089
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=)	rs55770810
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)	rs80357239
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	rs80357104
NM_007294.4(BRCA1):c.5211A>G (p.Arg1737=)	rs1555576963
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr)	rs80357078
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	rs80356959
NM_007294.4(BRCA1):c.671-18_671-16del	rs398122354
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)	rs80357724
NM_007294.4(BRCA1):c.81-14C>T	rs80358006
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)	rs8176153
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu)	rs1328780843
NM_012203.2(GRHPR):c.83+52del	rs35891798
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del)	rs375513122
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser)	rs1554616627
NM_013447.4(ADGRE2):c.1230G>A (p.Met410Ile)	rs1005458732
NM_013447.4(ADGRE2):c.1629del (p.Gly543_Leu544insTer)	rs747459594
NM_013447.4(ADGRE2):c.1780G>T (p.Gly594Ter)	rs148074899
NM_013447.4(ADGRE2):c.208G>A (p.Glu70Lys)	rs1010286043
NM_013447.4(ADGRE2):c.2138G>T (p.Arg713Ile)	rs200295887
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)	rs397517237
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)	rs959069360
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)	rs753012964
NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu)	rs1581278077
NM_014585.6(SLC40A1):c.430A>G (p.Asn144Asp)	rs104893662
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)	rs1573186691
NM_015021.3(ZNF292):c.7498G>A (p.Val2500Ile)	rs915267492
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)	rs1553252938
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn)	rs1783518295
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)	rs773311942
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal)	rs745656804
NM_015311.3(OBSL1):c.1534+5G>C	rs775172922
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr)	rs1231044656
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe)	rs542568224
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del)	rs551968687
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)	rs281865473
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015559.3(SETBP1):c.4598C>T (p.Pro1533Leu)	rs2073923280
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala)	rs1555365509
NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser)	rs1595625010
NM_015915.5(ATL1):c.466A>C (p.Thr156Pro)	rs2140205433
NM_015915.5(ATL1):c.488T>C (p.Val163Ala)	rs1595600383
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)	rs772520618
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)	rs35129734
NM_016373.4(WWOX):c.*200GGGCT[1]	rs144412859
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)	rs150384171
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs)	rs769235876
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)	rs200520088
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)	rs375515095
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)	rs377139749
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)	rs368433666
NM_017849.4(TMEM127):c.410-2A>C	rs121908826
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter)	rs2127741566
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs)	rs782624357
NM_018418.4(SPATA7):c.20_23del	rs527236050
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)	rs1131691616
NM_018714.3(COG1):c.2665dup (p.Arg889fs)	rs747606976
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)	rs1436106795
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	rs886039763
NM_019842.4(KCNQ5):c.730C>T (p.Arg244Cys)	rs1314919218
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs)	rs558592800
NM_020320.5(RARS2):c.-2A>G	rs201150141
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)	rs753312969
NM_020366.4(RPGRIP1):c.2367+23del	rs781728563
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)	rs1057521041
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)	rs1588344733
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)	rs1193627908
NM_020859.4(SHROOM3):c.179G>T (p.Gly60Val)	rs144435434
NM_020928.2(ZSWIM6):c.57CGG[5] (p.Gly26del)	rs565100893
NM_020975.6(RET):c.2304G>T (p.Glu768Asp)	rs78014899
NM_020975.6(RET):c.2342A>G (p.Gln781Arg)	rs377767416
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)	rs587778656
NM_020988.3(GNAO1):c.448A>C (p.Asn150His)	rs2037660713
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs)	rs1590028691
NM_021969.3(NR0B2):c.157_166del (p.His53fs)	rs540387719
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del)	rs759141702
NM_022124.6(CDH23):c.6433G>A (p.Val2145Met)	rs780523589
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	rs2066847
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)	rs587784127
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs)	rs1581535570
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)	rs587784208
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)	rs147828672
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	rs147001633
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)	rs377272752
NM_024426.6(WT1):c.649A>G (p.Ile217Val)	rs1384974578
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys)	rs1225502334
NM_024592.5(SRD5A3):c.697+1G>C	rs1719958144
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)	rs1577029680
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)	rs375699023
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys)	rs878855097
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp)	rs1597090787
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)	rs1555460445
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)	rs536644825
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)	rs770996884
NM_024675.4(PALB2):c.2587-1G>C	rs761214886
NM_024675.4(PALB2):c.2961A>G (p.Gln987=)	rs1555459530
NM_024675.4(PALB2):c.2996+5G>T	rs879254193
NM_024675.4(PALB2):c.2996+9del	rs769414858
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu)	rs1555461835
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)	rs766394024
NM_024675.4(PALB2):c.3202-1G>C	rs515726111
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)	rs864622138
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)	rs201657283
NM_024675.4(PALB2):c.3350+4A>G	rs180177136
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)	rs876659859
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)	rs587782217
NM_024675.4(PALB2):c.625del (p.Ser209fs)	rs1597098739
NM_024675.4(PALB2):c.93dup (p.Leu32fs)	rs864622498
NM_024685.4(BBS10):c.1315del (p.Gln439fs)	rs1592491950
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln)	rs1342402816
NM_024915.4(GRHL2):c.21-2A>G	rs1811191593
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)	rs1576086299
NM_025137.4(SPG11):c.4434+1G>A	rs1567148391
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)	rs149716029
NM_030665.4(RAI1):c.4958C>T (p.Pro1653Leu)	rs931068297
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)	rs565457964
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs)	rs794729648
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)	rs786202760
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)	rs1603328466
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)	rs542698396
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)	rs41302834
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)	rs1331463984
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)	rs1596520443
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)	rs137976282
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)	rs1576745260
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)	rs1553770510
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del)	rs774277094
NM_033343.4(LHX4):c.724_726del (p.Lys242del)	rs771109452
NM_033360.4(KRAS):c.189G>T (p.Glu63Asp)	rs1592808357
NM_033380.3(COL4A5):c.1588-10C>G	rs1603290097
NM_033453.4(ITPA):c.124+2T>C	rs1408254396
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)	rs777034646
NM_052876.4(NACC1):c.979G>C (p.Ala327Pro)	rs759246551
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)	rs35269064
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)	rs73637412
NM_058216.3(RAD51C):c.1026+5_1026+7del	rs587781410
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)	rs370212314
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly)	rs758847241
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)	rs1554217913
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)	rs267601070
NM_138927.4(SON):c.4151_4174del (p.Leu1384_Val1391del)	rs769691894
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile)	rs1567708034
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)	rs397517853
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)	rs531550505
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)	rs141090506
NM_144997.7(FLCN):c.779+6G>A	rs778530618
NM_145239.3(PRRT2):c.649del (p.Arg217fs)	rs587778771
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys)	rs932713001
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg)	rs2145977694
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)	rs727503962
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)	rs386834068
NM_152564.5(VPS13B):c.2047del (p.Gln683fs)	rs386834074
NM_152564.5(VPS13B):c.9331-1G>T	rs386834119
NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser)	rs146849758
NM_170606.3(KMT2C):c.4507+5A>G	rs2129129571
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs)	rs1595790647
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)	rs796052623
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)	rs35574083
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe)	rs1599663316
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu)	rs201835155
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)	rs558341655
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)	rs1008088032
NM_177550.5(SLC13A5):c.1276-1G>A	rs1597657030
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)	rs1057518092
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)	rs4240659
NM_181523.3(PIK3R1):c.1425+1G>A	rs587777709
NM_182641.4(BPTF):c.255dup (p.Ser86fs)	rs1598050118
NM_182641.4(BPTF):c.2598dup (p.Glu867fs)	rs753044214
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)	rs398124560
NM_183065.4(TMEM107):c.*622G>A	rs201266955
NM_183065.4(TMEM107):c.*751C>T	rs117595965
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)	rs377639087
NM_198576.4(AGRN):c.2457G>C (p.Gly819=)	rs112039851
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His)	rs33949390
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)	rs33949390
NM_199242.3(UNC13D):c.118-307G>A	rs1019391145
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)	rs1571783742
NM_206965.2(FTCD):c.990dup (p.Pro331fs)	rs398124234
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)	rs199476190
UGT1A1*28	rs3064744
m.12147G>A	rs121434474
m.1442G>A	rs28358573
m.14674T>C	rs387906421
m.1624C>T	rs199476144
m.3242G>A	rs193303018
m.3635G>A	rs397515507
m.3946G>A	rs199476123
m.4171C>A	rs28616230
m.5521G>A	rs199474673
m.5650G>A	rs121434457
m.616T>C	rs387906420
m.8342G>A	rs118192103