VID	CVVT	RSID	CVMA	vcfmatch	CVCS	CVSZ	CVNA	CVDS	CVLE	CTRS	CTAA	CTPS	CTRR
9	Simple	1800562	A	.	Conflict	1	10	"Microvascular complications of diabetes 7;Hemochromatosis type 1;Porphyria cutanea tarda, susceptibility to;Porphyria variegata, susceptibility to;Hemochromatosis, juvenile, digenic;Alzheimer disease, susceptibility to;Transferrin serum level quantitative trait locus 2;not specified;not provided;Hereditary cancer-predisposing syndrome;Cutaneous photosensitivity;Porphyrinuria;Hereditary hemochromatosis"	8/7/2017	41.16	1.7	P	3
10	Simple	1799945	G	.	Conflict	1	6	Microvascular complications of diabetes 7;Hemochromatosis type 1;not specified;not provided;Hereditary hemochromatosis	9/13/2017	33	1.666666667	P	3
127	Simple	121964970	T	.	Conflict	1	4	"Homocystinuria due to CBS deficiency;Homocystinuria, pyridoxine-responsive;Thoracic aortic aneurysm and aortic dissection;not specified;not provided"	12/8/2016	9.66	2.25	PLP	3
336	Simple	137854550	G	.	Conflict	1	4	"Neurofibromatosis, type 1;not provided;Hereditary cancer-predisposing syndrome"	6/26/2017	23.4	0.75	P	3
354	Simple	137854557	G	.	Conflict	1	3	"Neurofibromatosis, type 1;Hereditary cancer-predisposing syndrome"	8/1/2017	16.8	1.333333333	P	3
548	Simple	3848519	A	.	Conflict	1	2	Erythropoietic protoporphyria;not specified	6/14/2016	-9	1	BLB	3
632	Simple	76212747	G	.	Conflict	1	3	"Phenylketonuria;Hyperphenylalaninemia, non-pku;not provided;Hyperphenylalaninaemia"	8/30/2016	17.4	1.333333333	P	3
788	Simple	72552293	G	.	Conflict	1	4	Brugada syndrome 2;SUDDEN INFANT DEATH SYNDROME;Primary familial hypertrophic cardiomyopathy;Long QT syndrome;Brugada syndrome;not specified	6/22/2017	-14.4	1.5	BLB	3
797	Simple	137854567	T	.	Conflict	1	6	Gardner syndrome;Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	8/8/2017	-20.7	0.833333333	BLB	3
829	Simple	1801166	C	.	Conflict	1	7	Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	8/15/2017	-35.4	1.714285714	B	3
925	Simple	72555360	A	.	Conflict	1	8	"GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis;Morquio syndrome;not provided"	4/21/2017	38.7	0.875	P	3
1078	Simple	61747071	T	.	Conflict	1	6	"Joubert syndrome;Meckel-Gruber syndrome;Retinitis pigmentosa in ciliopathies, modifier of;Nephronophthisis;not specified"	8/8/2017	-24.6	1.5	B	3
1289	Simple	35077384	T	.	Conflict	1	4	"Spastic paraplegia 33, autosomal dominant;not specified;Spastic tetraparesis;Spastic paraplegia;Spastic Paraplegia, Dominant"	5/15/2017	-14.61	1.75	BLB	3
1418	Simple	121912615	C	.	Conflict	1	3	Sucrase-isomaltase deficiency;not specified;not provided	6/14/2016	11.13	1.666666667	PLP	3
1707	Simple	4253208	C	.	Conflict	1	5	Cockayne syndrome B;Cockayne syndrome;not specified;not provided;Macular degeneration;Cerebrooculofacioskeletal Syndrome	6/14/2016	-11.61	2	BLB	3
1721	Simple	121908287	C	.	Conflict	1	5	"Amyotrophic lateral sclerosis type 11;Charcot-Marie-Tooth disease, type 4J;Charcot-Marie-Tooth disease, type IV;not specified;not provided"	8/8/2017	30	0.6	P	3
1954	Simple	11555566	C	.	Conflict	1	2	Severe combined immunodeficiency due to ADA deficiency;not specified	6/14/2016	-9	1	BLB	3
1973	Simple	73598374	T	.	Conflict	1	2	Severe combined immunodeficiency due to ADA deficiency;Adenosine deaminase 2 allozyme;not specified	4/13/2017	-9	0.5	BLB	3
2064	Simple	137852776	C	.	Conflict	1	6	"Epilepsy juvenile absence;Juvenile myoclonic epilepsy;Myoclonic epilepsy, juvenile 1;not specified;not provided"	8/30/2017	-15.21	1.166666667	BLB	3
2199	Simple	119103280	T	.	Conflict	1	3	"Deafness, autosomal dominant 4;not specified;not provided"	1/5/2017	-8.4	1.666666667	BLB	3
2225	Simple	5030824	G	.	Conflict	1	4	"Erythrocytosis, familial, 2;Pheochromocytoma;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/30/2017	14.1	0.75	PLP	3
2232	Simple	28940298	T	.	Conflict	1	5	"Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	7/25/2017	14.79	1	PLP	3
2248	Simple	13306575	A	.	Conflict	1	2	"Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;Chronic granulomatous disease"	6/30/2017	-9	0.5	BLB	3
2282	Simple	138382758	A	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type 2A2A;Charcot-Marie-Tooth disease, type 2;not specified;not provided;Hereditary motor and sensory neuropathy"	10/31/2017	-12.27	0.75	BLB	3
2324	Simple	36215895	T	.	Conflict	1	4	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant;Emery-Dreifuss muscular dystrophy;not specified"	7/25/2017	-8.94	1.5	BLB	3
2356	Simple	80338902	A	.	Conflict	1	9	"Usher syndrome, type 2A;Retinitis pigmentosa;Retinitis pigmentosa 39;not specified;not provided;Retinal dystrophy;USH2A-Related Disorders;Usher syndrome"	7/10/2017	35.1	1.777777778	P	3
2547	Simple	104895094	C	.	Conflict	1	7	"Familial Mediterranean fever;Familial mediterranean fever, autosomal dominant;not specified;Syncope;not provided;Peripheral neuropathy;Abnormality of the teeth;Urticaria;Intermittent diarrhea;Cachexia"	10/31/2017	22.2	1.142857143	P	3
2548	Simple	61732874	A	.	Conflict	1	6	Familial Mediterranean fever;not specified;not provided	10/24/2017	31.8	1.166666667	P	3
2821	Simple	28940272	G	.	Conflict	1	5	Cohen syndrome;not specified;not provided	6/3/2017	-14.37	1.4	BLB	3
2878	Simple	11591147	T	.	Conflict	1	7	"Hypercholesterolemia, autosomal dominant, 3;Low density lipoprotein cholesterol level quantitative trait locus 1;Familial hypercholesterolemia;Hypocholesterolemia"	8/11/2017	-36.6	1.285714286	B	3
3019	Simple	587776547	-	.	Conflict	1	6	"Ataxia-telangiectasia syndrome;Ataxia-telangiectasia, complementation group E;T-cell prolymphocytic leukemia;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	7/14/2017	35.4	0.666666667	P	3
3027	Simple	3092857	G	.	Conflict	1	8	Ataxia-telangiectasia syndrome;B-cell non-Hodgkin lymphoma;not specified;not provided;Hereditary cancer-predisposing syndrome	8/19/2017	-34.5	1.75	B	3
3038	Simple	201686625	G	.	Conflict	1	7	Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/17/2017	-21.21	1.285714286	BLB	3
3044	Simple	1137887	A	.	Conflict	1	6	Ataxia-telangiectasia syndrome;not provided;Hereditary cancer-predisposing syndrome	7/26/2017	23.73	0.5	P	3
3049	Simple	6151429	C	.	Conflict	1	2	Metachromatic leukodystrophy;Arylsulfatase A pseudodeficiency;not specified;not provided	5/15/2017	-9	1	BLB	3
3131	Simple	17215500	T	.	Conflict	1	5	"Long QT syndrome 1;Long QT syndrome 1, recessive;Long QT syndrome;not provided;Cardiovascular phenotype"	8/15/2017	30	0	P	3
3211	Simple	34006675	A	.	Conflict	1	4	Fukuyama congenital muscular dystrophy;not specified;Walker-Warburg congenital muscular dystrophy	8/8/2017	-18	3.25	BLB	3
3362	Simple	41265017	A	.	Conflict	1	4	"Retinitis pigmentosa 35;not specified;Cone-Rod Dystrophy, Recessive;Retinitis Pigmentosa, Recessive"	6/14/2016	-16.8	1.5	BLB	3
3370	Simple	41419545	T	.	Conflict	1	8	Multiple fibrofolliculomas;Carcinoma of colon;not specified;not provided;Hereditary cancer-predisposing syndrome;Spontaneous pneumothorax	11/1/2017	-26.7	0.75	B	3
3645	Simple	41303129	T	.	Conflict	1	5	"Coenzyme Q10 deficiency, primary, 4;not specified;not provided;Autosomal recessive cerebellar ataxia"	8/31/2016	-24	2	B	3
3736	Simple	112029328	A	.	Conflict	1	10	Familial hypercholesterolemia;not provided	6/30/2017	45.6	1.1	P	3
3830	Simple	1800556	T	.	Conflict	1	4	Deficiency of butyryl-CoA dehydrogenase;not specified;not provided	7/24/2017	-9	0.75	BLB	3
3851	Simple	121907994	A	.	Conflict	1	3	Wilson disease	11/3/2016	11.7	1	PLP	3
3997	Simple	74374973	T	.	Conflict	1	5	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified"	8/4/2017	-24.6	1.4	B	3
4019	Simple	398124234	CC	.	Conflict	1	5	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;not provided	9/11/2017	13.2	1.2	PLP	3
4030	Simple	1800309	A	.	Conflict	1	4	"Glycogen storage disease, type II;Acid alpha-glucosidase, allele 4;not specified"	8/1/2017	-17.4	2.25	BLB	3
4179	Simple	72556554	A	.	Conflict	1	5	"Aicardi Goutieres syndrome 1;Vasculopathy, retinal, with cerebral leukodystrophy;Aicardi Goutieres syndrome;Systemic lupus erythematosus, susceptibility to;not provided"	8/23/2017	16.2	1.4	P	3
4229	Simple	104894683	A	.	Conflict	1	7	"Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;not specified;not provided;Walker-Warburg congenital muscular dystrophy"	7/27/2017	-22.8	1.142857143	BLB	3
4235	Simple	121908110	G	.	Conflict	1	5	"Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;Muscular dystrophy;Walker-Warburg congenital muscular dystrophy"	6/5/2017	23.1	1	P	3
4244	Simple	121908108	A	.	Conflict	1	4	"Familial hypertrophic cardiomyopathy 1;Cardiomyopathy, hypertrophic, midventricular, digenic;not specified"	2/10/2017	-13.8	2	BLB	3
4371	Simple	121908147	A	.	Conflict	1	5	"Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria;not specified;not provided;Familial cold autoinflammatory syndrome;Cryopyrin associated periodic syndrome"	7/31/2017	-12.6	0.6	BLB	3
4395	Simple	111033258	C	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;Usher syndrome, type 3A;Retinitis pigmentosa;not provided;Retinitis Pigmentosa, Dominant"	4/24/2017	20.1	2	P	3
4447	Simple	35086888	A	.	Conflict	1	3	"Cystinosis;Cystinosis, atypical nephropathic;Nephropathic cystinosis;not provided"	10/11/2016	-12	1	BLB	3
4462	Simple	121908120	A	.	Conflict	1	6	"Odontoonychodermal dysplasia;Schopf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4;not specified;not provided;Selective tooth agenesis"	8/17/2017	-12	0.666666667	BLB	3
4693	Simple	2066844	T	.	Conflict	1	5	"Blau syndrome;Inflammatory bowel disease 1;Crohn disease;not specified;INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO;YAO SYNDROME, SUSCEPTIBILITY TO"	7/10/2017	-18.27	1	BLB	3
4733	Simple	121908338	A	.	Conflict	1	6	"Dilated cardiomyopathy 1C;Myofibrillar myopathy, ZASP-related;not specified;not provided;Dilated cardiomyopathy"	4/1/2016	-25.8	3	B	3
4738	Simple	137852986	A	.	Conflict	1	12	"Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;Tracheoesophageal fistula;Breast cancer, early-onset;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	7/31/2017	57.9	0.833333333	P	3
4842	Simple	111033212	C	.	Conflict	1	4	Enlarged vestibular aqueduct syndrome;Pendred's syndrome;not specified	11/2/2017	8.4	0.5	PLP	3
4927	Simple	41281314	G	.	Conflict	1	3	"Usher syndrome, type 1;Usher syndrome, type 1D;not specified;not provided;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-11.4	3.333333333	BLB	3
4975	Simple	11887534	C	.	Conflict	1	3	Sitosterolemia;Gallbladder disease 4;not specified	6/14/2016	-12	1	BLB	3
4987	Simple	10151259	T	.	Conflict	1	4	"Cone-rod dystrophy 13;Leber congenital amaurosis;not specified;not provided;Cone-Rod Dystrophy, Recessive"	10/21/2016	-16.8	1.5	BLB	3
5027	Simple	104894342	C	.	Conflict	1	3	"Tumoral calcinosis, familial, hyperphosphatemic;not provided"	9/19/2017	8.76	1.333333333	PLP	3
5056	Simple	5030739	T	.	Conflict	1	3	"not specified;Prostate cancer, hereditary, 2;Combined oxidative phosphorylation deficiency 17"	7/31/2017	-17.4	1	BLB	3
5099	Simple	118203576	C	.	Conflict	1	12	Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/22/2017	-63	2.083333333	B	3
5103	Simple	118203657	A	.	Conflict	1	10	Tuberous sclerosis 1;Focal cortical dysplasia type II;Focal cortical dysplasia of Taylor type 2B;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/7/2017	-45.6	1.9	B	3
5149	Simple	55843567	T	.	Conflict	1	2	"Usher syndrome, type 1C;not specified"	7/10/2015	-8.4	4.5	BLB	3
5225	Simple	397515360	-	.	Conflict	1	5	"Achromatopsia 3;Stargardt disease 1;Achromatopsia;Leber congenital amaurosis;Abnormality of the eye;not provided;Retinal dystrophy;Achromatopsia;Stargardt Disease, Recessive"	3/27/2017	21.9	1.6	P	3
5302	Simple	34557412	G	.	Conflict	1	6	"Common variable immunodeficiency 2;Immunoglobulin A deficiency 2;not specified;not provided;Common Variable Immune Deficiency, Dominant"	9/25/2017	11.4	0.833333333	PLP	3
5303	Simple	72553883	T	.	Conflict	1	5	"Common variable immunodeficiency 2;Immunoglobulin A deficiency 2;not specified;not provided;Common Variable Immune Deficiency, Dominant"	7/27/2017	15	0.4	P	3
5342	Simple	35953626	A	.	Conflict	1	4	Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome	8/7/2017	-23.4	1	BLB	3
5360	Simple	74315342	T	.	Conflict	1	6	"Nephrotic syndrome, idiopathic, steroid-resistant;not provided;Steroid-resistant nephrotic syndrome"	9/14/2016	28.5	1.333333333	P	3
5541	Simple	17215437	T	.	Conflict	1	6	Brugada syndrome 6;not specified;Syncope;not provided;Ventricular fibrillation;Cardiovascular phenotype;Periodic paralysis	7/16/2017	-19.74	1.666666667	BLB	3
5561	Simple	28756990	A	.	Conflict	1	2	Endometrial carcinoma;Hereditary nonpolyposis colorectal cancer type 7;Lynch syndrome;MLH3-Related Lynch Syndrome	8/8/2017	-9	0.5	BLB	3
5591	Simple	17879961	G	.	Conflict	1	9	"Familial cancer of breast;Li-Fraumeni syndrome 2;Breast cancer, susceptibility to;Prostate cancer, susceptibility to;Breast and colorectal cancer, susceptibility to;Colorectal cancer, susceptibility to;Cancer of multiple types, susceptibility to;not specified;not provided;Hereditary cancer-predisposing syndrome"	9/23/2017	37.23	1	P	3
5594	Simple	17883862	A	.	Conflict	1	8	Familial cancer of breast;Osteosarcoma;not specified;not provided;Hereditary cancer-predisposing syndrome	8/8/2017	-36	1.5	B	3
5603	Simple	137853011	A	.	Conflict	1	11	"Familial cancer of breast;Li-Fraumeni syndrome 2;Osteosarcoma;Malignant tumor of prostate;Breast cancer, susceptibility to;Breast and colorectal cancer, susceptibility to;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal cancer"	8/7/2017	51.9	0.909090909	P	3
5738	Simple	137853138	A	.	Conflict	1	5	"Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis;not specified;Retinitis Pigmentosa, Recessive"	6/14/2016	-9.51	1.6	BLB	3
5970	Simple	77775126	T	.	Conflict	1	3	"Retinitis pigmentosa 1;not specified;Retinitis Pigmentosa, Dominant"	7/21/2016	-10.8	1.666666667	BLB	3
6054	Simple	74315448	C	.	Conflict	1	4	Cardiac arrhythmia;Long QT syndrome 6;not specified;not provided;Cardiovascular phenotype	9/20/2017	-8.4	1.25	BLB	3
6107	Simple	116171274	A	.	Conflict	1	6	"Spastic paraplegia 5A;Hereditary spastic paraplegia;not provided;Spastic paraplegia;Congenital Bile Acid Synthesis Defect;Spastic Paraplegia, Recessive"	7/12/2017	26.1	0.833333333	P	3
6367	Simple	121908919	C	.	Conflict	1	5	"Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;not specified;Seizures;Hypoglycemia;not provided;Global developmental delay"	7/12/2017	-14.4	0.8	BLB	3
6370	Simple	267607030	C	.	Conflict	1	8	"Primary erythromelalgia;Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	6/26/2017	-24	0.875	B	3
6499	Simple	34336420	T	.	Conflict	1	3	"Maturity-onset diabetes of the young, type 7;not specified;not provided;Maturity-onset diabetes of the young;Monogenic diabetes"	10/11/2016	-14.4	1.333333333	BLB	3
6503	Simple	137853027	G	.	Conflict	1	4	Jeune thoracic dystrophy;Short-rib thoracic dysplasia 3 with or without polydactyly;not provided;Narrow chest;Intrauterine growth retardation;Bowing of the long bones;Short Rib Polydactyly Syndrome	6/1/2017	13.5	1.5	PLP	3
6667	Simple	121908954	G	.	Conflict	1	4	"Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy;not specified"	8/21/2017	-17.4	0.75	BLB	3
6895	Simple	34677591	A	.	Conflict	1	9	Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Carcinoid tumor of intestine;Paragangliomas 1;not specified;not provided;Cowden syndrome 3;Hereditary cancer-predisposing syndrome	8/15/2017	-44.4	1.333333333	B	3
6909	Simple	11214077	G	.	Conflict	1	9	"Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Carcinoid tumor of intestine;Paragangliomas 1;Merkel cell carcinoma;not specified;MERKEL CELL CARCINOMA, SOMATIC;not provided;Cowden syndrome 3;Hereditary cancer-predisposing syndrome"	10/4/2017	-36.6	1	B	3
6948	Simple	34767364	A	.	Conflict	1	7	"Microcephaly, normal intelligence and immunodeficiency;not specified;not provided;Hereditary cancer-predisposing syndrome"	8/11/2017	-17.64	1.142857143	BLB	3
6956	Simple	121908970	T	.	Conflict	1	2	"Deafness, with smith-magenis syndrome;not specified"	3/21/2016	-9.6	3	BLB	3
7050	Simple	34424986	A	.	Conflict	1	3	"Parkinson disease 2;not provided;Parkinson Disease, Juvenile"	4/18/2017	11.7	0.666666667	PLP	3
7098	Simple	75654767	A	.	Conflict	1	4	"Primary open angle glaucoma;Amyotrophic lateral sclerosis type 12;Glaucoma 1, open angle, e;Amyotrophic Lateral Sclerosis, Recessive"	7/11/2017	-12.3	0.75	BLB	3
7099	Simple	11258194	A	.	Conflict	1	4	"Primary open angle glaucoma;Glaucoma, normal tension, susceptibility to;Glaucoma 1, open angle, e;not specified;Amyotrophic Lateral Sclerosis, Recessive"	6/29/2016	-22.8	1.5	BLB	3
7126	Simple	74571530	G	.	Conflict	1	5	Cystic fibrosis;not specified;Pancreatitis	10/24/2017	-9.3	0.4	BLB	3
7131	Simple	1800091	G	.	Conflict	1	4	Cystic fibrosis;not specified	12/13/2016	-18.3	1	BLB	3
7189	Simple	727504486	TTTTT	.	Conflict	1	7	"Cystic fibrosis;Hereditary pancreatitis;Congenital bilateral absence of the vas deferens;Bronchiectasis with or without elevated sweat chloride 1, modifier of;not specified;not provided"	10/31/2017	24.93	1.285714286	P	3
7196	Simple	75789129	G	.	Conflict	1	4	Cystic fibrosis;not specified	5/23/2017	-16.8	1	BLB	3
7238	Simple	121909046	G	.	Conflict	1	4	Cystic fibrosis;not specified	6/26/2017	-9.6	0.75	BLB	3
7323	Simple	113487931	T	.	Conflict	1	3	"Aplastic anemia;Dyskeratosis congenita autosomal dominant;not specified;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2"	8/11/2017	-18	0.333333333	BLB	3
7461	Simple	59912467	G	.	Conflict	1	9	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	8/14/2017	-45.6	1.888888889	B	3
7739	Simple	79204362	T	.	Conflict	1	3	"Glaucoma, congenital;Glaucoma, early-onset, digenic;not specified;Coloboma"	3/27/2017	8.7	2.333333333	PLP	3
7879	Simple	76157638	G	.	Conflict	1	5	Cone-rod dystrophy 3;Stargardt disease 1;not provided;Peripheral neuropathy;Retinal dystrophy;Abnormality of the macula	10/19/2017	19.89	1.8	P	3
7880	Simple	58331765	T	.	Conflict	1	4	"Stargardt disease 1;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	12/29/2016	-12	1	BLB	3
7903	Simple	61750126	C	.	Conflict	1	6	"Cone-rod dystrophy 3;Stargardt disease 1;not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	6/14/2016	-14.1	1.5	BLB	3
7913	Simple	1801581	T	.	Conflict	1	6	"Stargardt disease 1;MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO;not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	6/14/2016	-19.2	2.333333333	BLB	3
8046	Simple	104894299	T	.	Conflict	1	9	"Pena-Shokeir syndrome type I;Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency;Congenital myasthenic syndrome;not provided;Myopathy;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive"	9/27/2017	40.2	1.555555556	P	3
8148	Simple	55679042	T	.	Conflict	1	3	"Deafness, autosomal dominant 48;not specified;Nonsyndromic Hearing Loss, Dominant"	6/14/2016	-9.6	2.666666667	BLB	3
8222	Simple	115556836	A	.	Conflict	1	6	Gorlin syndrome;Holoprosencephaly 7;not specified;not provided;Hereditary cancer-predisposing syndrome;Holoprosencephaly	8/4/2017	-25.2	1.166666667	B	3
8223	Simple	199476092	C	.	Conflict	1	2	Gorlin syndrome;Holoprosencephaly 7;not specified;not provided;Hereditary cancer-predisposing syndrome	7/20/2017	-12	0.5	BLB	3
8224	Simple	138911275	A	.	Conflict	1	3	Gorlin syndrome;Holoprosencephaly 7;Holoprosencephaly sequence;not specified;not provided;Hereditary cancer-predisposing syndrome	10/17/2017	-9	0	BLB	3
8278	Simple	72546667	A	.	Conflict	1	10	"Limb-girdle muscular dystrophy, type 1C;Limb-girdle muscular dystrophy;Long QT syndrome;Distal myopathy, Tateyama type;not specified;not provided;Cardiovascular phenotype;Limb-Girdle Muscular Dystrophy, Dominant"	8/8/2017	-46.2	2.6	B	3
8279	Simple	116840776	G	.	Conflict	1	5	"Creatine phosphokinase, elevated serum;Familial hypertrophic cardiomyopathy 1;Long QT syndrome 9;Limb-girdle muscular dystrophy, type 1C;Rippling muscle disease;Limb-girdle muscular dystrophy;Long QT syndrome;Distal myopathy, Tateyama type;not specified;not provided;Cardiovascular phenotype"	9/18/2017	-13.17	1.8	BLB	3
8293	Simple	72546668	T	.	Conflict	1	8	"Long QT syndrome 9;Long QT syndrome 2/9, digenic;Long QT syndrome;not specified;not provided;Cardiovascular phenotype"	8/4/2017	-30.9	2.25	B	3
8402	Simple	72466496	A	.	Conflict	1	2	"Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;Amyotrophic lateral sclerosis, susceptibility to;not provided"	7/31/2017	-9	0.5	BLB	3
8617	Simple	2856655	T	.	Conflict	1	4	Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy	5/11/2017	11.16	1.75	PLP	3
8776	Simple	45550635	G	.	Conflict	1	5	Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified;not provided;Dilated cardiomyopathy;Cardiovascular phenotype	10/30/2017	-18.9	1.4	BLB	3
8828	Simple	5736	A	.	Conflict	1	3	"Pseudoprimary hyperaldosteronism;Bronchiectasis with or without elevated sweat chloride 3;not provided;Pseudohypoaldosteronism, Type I, Recessive"	6/14/2016	-11.4	1.333333333	BLB	3
8844	Simple	35731153	G	.	Conflict	1	4	Bronchiectasis with or without elevated sweat chloride 1;not specified	9/1/2016	-14.1	1.5	BLB	3
8964	Simple	74315298	T	.	Conflict	1	3	"Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, lethal neonatal;Carnitine palmitoyltransferase II deficiency;not specified;not provided"	5/6/2017	8.73	0.666666667	PLP	3
9008	Simple	28936670	A	.	Conflict	1	4	"Atrial septal defect 7 with or without atrioventricular conduction defects;Hypothyroidism, congenital, nongoitrous, 5;Tetralogy of Fallot;Congenital heart disease;not specified;Hypoplastic left heart syndrome 2;Interrupted aortic arch;TRUNCUS ARTERIOSUS"	8/2/2017	-14.67	2.5	BLB	3
9018	Simple	137852684	A	.	Conflict	1	2	"Atrial septal defect 7 with or without atrioventricular conduction defects;Hypothyroidism, congenital, nongoitrous, 5;not specified"	6/6/2017	-9	0	BLB	3
9034	Simple	56208331	A	.	Conflict	1	3	Atrial septal defect 2;Tetralogy of Fallot;Atrioventricular septal defect 4;not provided;Inborn genetic diseases	6/21/2017	-12.21	1.666666667	BLB	3
9054	Simple	906807	C	.	Conflict	1	2	"Mitochondrial complex I deficiency;Parkinson disease, mitochondrial;not specified"	6/14/2016	-9.6	3	BLB	3
9158	Simple	59172778	G	.	Conflict	1	2	"Bartter syndrome, type 2, antenatal;not specified;not provided"	11/24/2015	-10.8	2	BLB	3
9227	Simple	35769976	G	.	Conflict	1	2	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified	7/12/2017	-12	0.5	BLB	3
9269	Simple	5742912	G	.	Conflict	1	4	"Bronchiectasis with or without elevated sweat chloride 2;not specified;Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism, Type I, Recessive"	6/14/2016	-14.1	1.5	BLB	3
9392	Simple	41261344	T	.	Conflict	1	5	"Brugada syndrome 1;Primary familial hypertrophic cardiomyopathy;Long qt syndrome 3, acquired, susceptibility to;Brugada syndrome;not specified;not provided;Cardiovascular phenotype"	8/4/2017	-22.8	2.2	BLB	3
9393	Simple	7626962	T	.	Conflict	1	11	"Cardiac arrhythmia;SUDDEN INFANT DEATH SYNDROME;Long qt syndrome 3, acquired, susceptibility to;Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;not provided;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	8/11/2017	-42.6	1.181818182	B	3
9396	Simple	45620037	A	.	Conflict	1	5	"Sick sinus syndrome 1, autosomal recessive;Dilated cardiomyopathy 1E;Brugada syndrome;not specified;Nodal rhythm;Cardiovascular phenotype"	9/20/2017	-11.4	1.4	BLB	3
9412	Simple	104894094	A	.	Conflict	1	8	Melanoma-pancreatic cancer syndrome;Cutaneous malignant melanoma 2;not specified;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome;Cutaneous melanoma	8/2/2017	41.1	0.5	P	3
9426	Simple	137854599	T	.	Conflict	1	3	Cutaneous malignant melanoma 2;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome	8/17/2017	8.7	0	PLP	3
10366	Simple	2230037	A	.	Conflict	1	3	Glucose 6 phosphate dehydrogenase deficiency;G6pd a-;not specified	6/14/2016	-14.4	1.333333333	BLB	3
10450	Simple	104894825	G	.	Conflict	1	4	"X-linked hereditary motor and sensory neuropathy;Charcot-Marie-Tooth Neuropathy X;not specified;Charcot-Marie-Tooth, X-linked"	5/12/2017	-18	0.75	BLB	3
10738	Simple	28935490	A	.	Conflict	1	8	Fabry disease;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Sudden unexplained death	8/4/2017	-22.8	1.375	BLB	3
10748	Simple	104894845	T	.	Conflict	1	7	Fabry disease;Cardiomyopathy;not specified;not provided	4/24/2017	9.66	1.571428571	PLP	3
10885	Simple	2229137	C	.	Conflict	1	2	Pyruvate dehydrogenase E1-alpha deficiency;not specified;not provided	8/15/2017	-10.2	2.5	BLB	3
10984	Simple	606231198	.	.	Conflict	1	2	Renpenning syndrome 1;not specified	3/22/2017	-10.2	2	BLB	3
11032	Simple	132630309	T	.	Conflict	1	5	Hypohidrotic X-linked ectodermal dysplasia;not specified;not provided	7/16/2017	-26.4	1	B	3
11267	Simple	41305353	A	.	Conflict	1	8	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype	8/8/2017	-40.8	1.625	B	3
11268	Simple	1800278	C	.	Conflict	1	8	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype	8/8/2017	-40.8	1.625	B	3
11269	Simple	1800279	C	.	Conflict	1	7	Becker muscular dystrophy;Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype	8/9/2017	-35.4	1.714285714	B	3
11439	Simple	104894963	G	.	Conflict	1	5	"Heterotaxy, visceral, X-linked;VACTERL association with hydrocephaly, X-linked;Congenital heart defects, multiple types, 1, X-linked;not specified;not provided;Congenital heart defects 1, nonsyndromic, 1"	4/27/2017	-16.2	1.4	BLB	3
11724	Simple	45439799	C	.	Conflict	1	4	ATR-X syndrome;not specified;not provided	7/28/2017	-20.4	2.25	BLB	3
11809	Simple	28934904	A	.	Conflict	1	10	"Angelman syndrome;Severe neonatal-onset encephalopathy with microcephaly;Mental retardation, X-linked, syndromic 13;Rett syndrome;Rett syndrome, zappella variant;not specified;not provided"	9/29/2017	49.53	1.6	P	3
11852	Simple	41298135	A	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;Usher syndrome, type 1B;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-14.4	2.6	BLB	3
12130	Simple	9332739	C	.	Conflict	1	3	Complement component 2 deficiency;not specified;Age-related macular degeneration 14;Macular degeneration	6/14/2016	-12	1	BLB	3
12148	Simple	35520756	A	.	Conflict	1	4	Bardet-Biedl syndrome;not specified;not provided	8/15/2017	-20.4	1	BLB	3
12232	Simple	33935154	A	.	Conflict	1	10	Endometrial carcinoma;Hereditary diffuse gastric cancer;not specified;not provided;Hereditary cancer-predisposing syndrome	8/15/2017	-47.4	2	B	3
12308	Simple	6339	T	.	Conflict	1	3	Hereditary insensitivity to pain with anhidrosis;Familial medullary thyroid carcinoma;not specified	8/8/2017	-13.8	1.333333333	BLB	3
12319	Simple	55758736	A	.	Conflict	1	5	"Maturity-onset diabetes of the young, type 11;not specified;Maturity-onset diabetes of the young;Monogenic diabetes"	4/21/2017	-17.4	1.4	BLB	3
12348	Simple	121912652	T	.	Conflict	1	2	Li-Fraumeni syndrome 1;not specified;not provided	9/23/2016	12	1	PLP	3
12364	Simple	28934574	A	.	Conflict	1	6	"Liver cancer;Malignant lymphoma, non-Hodgkin;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Li-Fraumeni syndrome 1;Adenocarcinoma of lung;Li-Fraumeni-like syndrome;Kidney cancer;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate"	7/27/2017	34.8	0.833333333	P	3
12415	Simple	74315380	A	.	Conflict	1	3	Primary dilated cardiomyopathy;Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;not provided	7/25/2017	14.1	1.333333333	PLP	3
12502	Simple	34833812	T	.	Conflict	1	6	Marfan syndrome;Hereditary nonpolyposis colorectal cancer type 6;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	9/1/2017	-21.6	1.5	BLB	3
12707	Simple	17028450	T	.	Conflict	1	7	"Loeys-Dietz syndrome 2;Dilated cardiomyopathy 1T;not specified;Dilated cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/24/2017	-26.4	2	B	3
12730	Simple	34094720	A	.	Conflict	1	7	"Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;Dyskeratosis congenita, autosomal recessive, 4;not specified;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;not provided;Dyskeratosis Congenita, Recessive"	8/4/2017	-23.4	1.142857143	BLB	3
12791	Simple	11203289	C	.	Conflict	1	7	Cowden syndrome 2;Gastrointestinal stromal tumor;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4;Pheochromocytoma;not specified;not provided;Hereditary cancer-predisposing syndrome	8/17/2017	-34.8	1	B	3
12792	Simple	33927012	G	.	Conflict	1	8	Cowden syndrome 2;Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified;not provided;Hereditary cancer-predisposing syndrome	10/4/2017	-33.6	1.25	B	3
12846	Simple	35948326	T	.	Conflict	1	3	"Spherocytosis, type 3, autosomal recessive;not specified;Spherocytosis, Recessive"	4/13/2017	-15	0.666666667	BLB	3
12859	Simple	7418956	T	.	Conflict	1	3	"Elliptocytosis 2;Hereditary pyropoikilocytosis;Elliptocytosis;Spherocytosis, Recessive"	6/14/2016	-9	1	BLB	3
13458	Simple	121918095	A	.	Conflict	1	2	Amyloidogenic transthyretin amyloidosis;not specified	3/2/2017	-10.2	2.5	BLB	3
13477	Simple	74315445	T	.	Conflict	1	4	Jervell and Lange-Nielsen syndrome 2;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 5;Arrhythmogenic right ventricular cardiomyopathy;Long QT syndrome;Brugada syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype;Sudden unexplained death	8/7/2017	17.7	0.25	P	3
13479	Simple	1805128	T	.	Conflict	1	8	"Long QT syndrome 5, acquired, susceptibility to;Long QT syndrome 2/5;Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome"	7/25/2017	-30.3	1.375	B	3
13503	Simple	113994094	A	.	Conflict	1	11	"Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Cerebellar ataxia infantile with progressive external ophthalmoplegia;Mitochondrial DNA depletion syndrome 4B, MNGIE type;not specified;not provided;Global developmental delay;POLG-Related Spectrum Disorders"	11/8/2017	42.96	1.454545455	P	3
13505	Simple	113994096	A	.	Conflict	1	9	"Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Cerebellar ataxia infantile with progressive external ophthalmoplegia;Mitochondrial diseases;Mitochondrial DNA depletion syndrome 4B, MNGIE type;not specified;not provided;Global developmental delay"	11/8/2017	32.16	1.555555556	P	3
13507	Simple	113994097	G	.	Conflict	1	6	"Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Myoclonic epilepsy myopathy sensory ataxia;Mitochondrial diseases;not specified;not provided;POLG-Related Spectrum Disorders"	7/14/2017	27.9	1	P	3
13509	Simple	41549716	C	.	Conflict	1	6	Progressive sclerosing poliodystrophy;Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;not specified;not provided	8/3/2017	-24	2	B	3
13513	Simple	121918054	G	.	Conflict	1	9	"Progressive sclerosing poliodystrophy;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial diseases;Mitochondrial DNA depletion syndrome 4B, MNGIE type;not specified;not provided;POLG-Related Spectrum Disorders"	7/3/2017	40.86	1.111111111	P	3
13586	Simple	28933977	T	.	Conflict	1	4	"Arterial calcification of infancy;not specified;Hypophosphatemic Rickets, Recessive"	6/14/2016	-13.8	1.5	BLB	3
13690	Simple	72552778	A	.	Conflict	1	3	"Progressive familial intrahepatic cholestasis 3;Cholecystitis;Cholestasis, intrahepatic, of pregnancy 3;not provided;ABCB4-Related Intrahepatic Cholestasis"	9/1/2016	8.76	1.666666667	PLP	3
13691	Simple	58238559	C	.	Conflict	1	4	Cholecystitis;not specified;not provided	9/21/2017	-14.4	1	BLB	3
13720	Simple	35418374	T	.	Conflict	1	3	"Aplastic anemia;Hemophagocytic lymphohistiocytosis, familial, 2;Familial hemophagocytic lymphohistiocytosis;not specified;not provided"	8/11/2017	-15	0.666666667	BLB	3
13821	Simple	121917710	T	.	Conflict	1	7	"Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;Postaxial polydactyly, type a1/b;not specified;not provided"	7/25/2017	-28.8	0.857142857	B	3
13936	Simple	77724903	T	.	Conflict	1	9	"Multiple endocrine neoplasia, type 4;Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;Familial medullary thyroid carcinoma;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;MEN2A and FMTC;Hirschsprung disease;not specified;not provided;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant"	7/20/2017	-29.7	0.888888889	B	3
13947	Simple	76397662	A	.	Conflict	1	4	"Congenital central hypoventilation;Hirschsprung disease 1;Multiple endocrine neoplasia, type 2;not specified;Hereditary cancer-predisposing syndrome"	7/6/2017	-23.4	1	BLB	3
13949	Simple	77711105	A	.	Conflict	1	5	"Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;not specified;not provided;Hereditary cancer-predisposing syndrome"	9/29/2017	-11.94	1	BLB	3
14063	Simple	104893750	T	.	Conflict	1	4	Familial hypertrophic cardiomyopathy 8;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype	7/24/2017	11.76	1	PLP	3
14124	Simple	267606911	A	.	Conflict	1	4	Familial hypertrophic cardiomyopathy 1;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype	7/10/2017	11.73	0.75	PLP	3
14126	Simple	267606910	T	.	Conflict	1	4	Familial hypertrophic cardiomyopathy 1;Left ventricular noncompaction 5;not provided;Hypertrophic cardiomyopathy	8/24/2017	11.7	0	PLP	3
14151	Simple	143978652	A	.	Conflict	1	7	Dilated cardiomyopathy 1EE;Familial hypertrophic cardiomyopathy 14;not specified;Dilated cardiomyopathy;Sudden cardiac death;Cardiovascular phenotype	9/8/2017	-8.61	1.857142857	BLB	3
14318	Simple	13447324	T	.	Conflict	1	3	Schizophrenia;Obesity;not provided	6/14/2016	15	2.666666667	P	3
14351	Simple	1800451	T	.	Conflict	1	2	Mannose-binding protein deficiency;not specified	6/14/2016	-9	1	BLB	3
14499	Simple	57520892	A	.	Conflict	1	3	"Mandibuloacral dysostosis;Mandibuloacral dysplasia with type A lipodystrophy, atypical;Charcot-Marie-Tooth disease, type 2;Mandibuloacral dysplasia;not provided"	8/11/2017	16.8	1	P	3
14527	Simple	142000963	T	.	Conflict	1	6	"Primary dilated cardiomyopathy;Charcot-Marie-Tooth disease, type 2;Variant of unknown significance;Charcot-Marie-Tooth disease;not specified;not provided;Cardiovascular phenotype"	8/25/2017	-8.67	1.333333333	BLB	3
14707	Simple	1799816	T	.	Conflict	1	5	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Diabetes mellitus type 2;not specified;not provided;Monogenic diabetes	8/23/2017	-16.44	1.8	BLB	3
14839	Simple	1494558	C	.	Conflict	1	2	"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified;Severe Combined Immune Deficiency"	6/14/2016	-12	1	BLB	3
14840	Simple	1494555	A	.	Conflict	1	2	"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified;Severe Combined Immune Deficiency"	6/14/2016	-12	1	BLB	3
15152	Simple	33946267	G	.	Conflict	1	5	Hb SS disease;Hb D-Los Angeles;beta Thalassemia;not specified	6/26/2017	19.5	1	P	3
16077	Simple	4151667	A	.	Conflict	1	5	Atypical hemolytic uremic syndrome;Complement component 2 deficiency;not specified;Age-related macular degeneration 14;Macular degeneration	6/14/2016	-18	1	BLB	3
16445	Simple	61746008	A	.	Conflict	1	14	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	7/28/2017	-30.9	1	B	3
16451	Simple	137854475	T	.	Conflict	1	15	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Marfanoid habitus;Geleophysic dysplasia;Ectopia lentis	8/1/2017	-39.27	1	B	3
16637	Simple	1801710	T	.	Conflict	1	4	"Hirschsprung disease 2;Waardenburg syndrome;not specified;not provided;Hirschsprung Disease, Recessive"	6/14/2016	-11.04	2	BLB	3
16646	Simple	11570255	A	.	Conflict	1	3	"Hirschsprung disease 4;not specified;Hirschsprung Disease, Dominant"	6/14/2016	-8.7	1.333333333	BLB	3
16818	Simple	121913013	A	.	Conflict	1	5	"Arrhythmogenic right ventricular cardiomyopathy, type 10;Catecholaminergic polymorphic ventricular tachycardia type 1;Arrhythmogenic right ventricular cardiomyopathy;Dilated cardiomyopathy 1BB;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype"	9/20/2017	-13.8	1.4	BLB	3
16846	Simple	121912998	A	.	Conflict	1	9	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiomyopathy;Right ventricular cardiomyopathy;Cardiomyopathy, ARVC"	7/4/2017	-12.75	2.111111111	BLB	3
17000	Simple	35887622	G	.	Conflict	1	15	"Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness;not specified;not provided;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	5/9/2017	33.06	1.2	P	3
17010	Simple	80338942	-	.	Conflict	1	14	"Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness;Hearing impairment;not provided;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	5/9/2017	41.4	1.642857143	P	3
17023	Simple	72474224	T	.	Conflict	1	12	"Deafness, autosomal recessive 1A;Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Deafness, autosomal dominant 3a;Deafness, X-linked 2;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment;not provided"	10/5/2017	49.2	1.916666667	P	3
17164	Simple	117725825	T	.	Conflict	1	6	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	8/1/2017	-14.97	1	BLB	3
17173	Simple	121912936	G	.	Conflict	1	3	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1	2/17/2017	11.7	1	PLP	3
17545	Simple	55960271	T	.	Conflict	1	4	"Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not provided"	9/1/2017	14.4	0.75	PLP	3
17634	Simple	121912775	A	.	Conflict	1	6	Timothy syndrome;Brugada syndrome 3;Long QT syndrome;Brugada syndrome;not specified	7/6/2017	-9.81	1.166666667	BLB	3
17660	Simple	80357064	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	7/26/2017	33.6	1.5	P	3
17676	Simple	41293455	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/9/2017	-17.34	1.5	BLB	3
17752	Simple	5036	C	.	Conflict	1	4	"Hemolytic anemia;Band 3 memphis;not specified;Distal Renal Tubular Acidosis, Dominant;Spherocytosis, Dominant"	4/17/2017	-15	0.75	BLB	3
17890	Simple	5742904	T	.	Conflict	1	10	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not provided;Hypobetalipoproteinemia"	11/7/2017	48	1.3	P	3
17974	Simple	28931570	A	.	Conflict	1	3	PI I;Alpha-1-antitrypsin deficiency;not specified;not provided	10/11/2016	8.73	1.333333333	PLP	3
18058	Simple	35530544	A	.	Conflict	1	5	"Cardiac arrhythmia;Cardiac arrhythmia, ankyrin B-related;Long QT syndrome;not provided;Cardiovascular phenotype"	6/28/2017	-21.6	1.4	BLB	3
18060	Simple	45454496	A	.	Conflict	1	5	"Cardiac arrhythmia;Cardiac arrhythmia, ankyrin B-related;Long QT syndrome;not specified;not provided;Arrhythmia"	6/9/2017	-18.6	1.6	BLB	3
21344	Simple	41268673	T	.	Conflict	1	6	"Primary erythromelalgia;Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified;Inherited Erythromelalgia"	8/14/2017	-28.2	1.333333333	B	3
21411	Simple	74582884	A	.	Conflict	1	6	Benign familial neonatal seizures 2;Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy	10/17/2017	-19.8	1	BLB	3
21412	Simple	118192254	C	.	Conflict	1	4	Benign familial neonatal seizures 2;Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy	10/19/2017	-9.24	1.25	BLB	3
21483	Simple	80356719	A	.	Conflict	1	3	Amyotrophic lateral sclerosis type 10;Motor neuron disease;TARDBP-related frontotemporal dementia;not provided	8/2/2017	8.4	1	PLP	3
21628	Simple	193251130	G	.	Conflict	1	4	"Primary autosomal recessive microcephaly 5;not specified;Primary Microcephaly, Recessive"	7/22/2016	-9.42	2.5	BLB	3
21764	Simple	117067974	G	.	Conflict	1	4	Benign familial neonatal seizures 1;not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy	8/1/2017	-13.5	1.5	BLB	3
21795	Simple	118192203	A	.	Conflict	1	4	Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy 7;not provided;Early infantile epileptic encephalopathy	12/20/2016	15.3	2	P	3
24880	Simple	34682185	A	.	Conflict	1	8	"Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified;not provided;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant"	10/31/2017	-24.6	0.625	B	3
24919	Simple	55846256	T	.	Conflict	1	3	"Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;not specified;Hereditary cancer-predisposing syndrome"	2/9/2017	-8.7	1.333333333	BLB	3
24928	Simple	148935214	T	.	Conflict	1	5	"Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;not specified;not provided;Hereditary cancer-predisposing syndrome;Elevated basal serum calcitonin"	7/30/2017	-12.3	1	BLB	3
24932	Simple	146646971	T	.	Conflict	1	4	"Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;not provided;Hereditary cancer-predisposing syndrome"	10/20/2017	19.2	1	P	3
24948	Simple	56195026	A	.	Conflict	1	2	"Multiple endocrine neoplasia, type 2;MEN2 phenotype: Unknown;Hereditary cancer-predisposing syndrome"	6/12/2017	-8.7	1	BLB	3
25032	Simple	145388314	T	.	Conflict	1	4	Biotinidase deficiency;not specified	8/22/2016	-15.9	2	BLB	3
25269	Simple	111033768	G	.	Conflict	1	2	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	4/7/2016	8.4	1.5	PLP	3
25371	Simple	201082652	T	.	Conflict	1	3	Renal carnitine transport defect;not provided	7/21/2017	10.5	1.333333333	PLP	3
29705	Simple	199822819	C	.	Conflict	1	7	Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided;Hereditary cancer-predisposing syndrome;Multiple Cutaneous and Uterine Leiomyomas	7/11/2017	21	1.428571429	P	3
29792	Simple	149617956	A	.	Conflict	1	5	Cutaneous malignant melanoma 8;not specified;not provided;Hereditary cancer-predisposing syndrome	8/8/2017	20.73	0.8	P	3
29878	Simple	148772854	T	.	Conflict	1	9	"Central core disease;Minicore myopathy with external ophthalmoplegia;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders"	9/18/2017	-34.2	1	B	3
30042	Simple	143247685	C	.	Conflict	1	3	Rubinstein-Taybi syndrome;not specified;not provided	9/1/2016	-12.6	2.666666667	BLB	3
30156	Simple	79691946	T	.	Conflict	1	2	Axenfeld-Rieger syndrome type 3;Anterior segment dysgenesis 3;not specified;not provided	7/19/2017	-12	0.5	BLB	3
30357	Simple	200945460	T	.	Conflict	1	10	"Primary erythromelalgia;Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	5/10/2017	-16.77	1.2	BLB	3
30422	Simple	35383149	C	.	Conflict	1	4	Congenital disorder of glycosylation type 1C;not specified	8/4/2017	-20.4	2.25	BLB	3
30458	Simple	140740776	T	.	Conflict	1	6	Familial hypertrophic cardiomyopathy 17;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	8/1/2017	-31.8	2	B	3
30544	Simple	145303331	C	.	Conflict	1	7	"Zunich neuroectodermal syndrome;Bilateral cleft lip and palate;Low-set ears;not provided;Premature birth;Wide intermamillary distance;Scrotal hypoplasia;Hypertelorism;Postaxial hand polydactyly;Camptodactyly of finger;Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome"	5/18/2017	33.36	1.714285714	P	3
30567	Simple	146902156	A	.	Conflict	1	3	"Odontoonychodermal dysplasia;Schopf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4;not provided;Selective tooth agenesis"	6/14/2016	-9	1	BLB	3
30994	Simple	146245480	T	.	Conflict	1	4	Dilated cardiomyopathy 1CC;Primary familial hypertrophic cardiomyopathy;Familial hypertrophic cardiomyopathy 20;not specified	8/15/2017	-11.1	1.75	BLB	3
31791	Simple	71534278	T	.	Conflict	1	6	Primary dilated cardiomyopathy;not specified;not provided;Dilated cardiomyopathy 1KK;Familial hypertrophic cardiomyopathy 22;Dilated cardiomyopathy;Cardiovascular phenotype	9/14/2017	-22.5	1.5	BLB	3
31819	Simple	138313730	A	.	Conflict	1	6	not specified;not provided;Dilated cardiomyopathy 1KK;Cardiovascular phenotype	7/29/2017	-26.7	0.833333333	B	3
31882	Simple	199476315	A	.	Conflict	1	6	Familial hypertrophic cardiomyopathy 3;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Left ventricular noncompaction 9;Hypertrophic cardiomyopathy	8/9/2017	28.2	1.333333333	P	3
31883	Simple	199476316	T	.	Conflict	1	4	Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy	4/21/2017	11.52	2	PLP	3
31889	Simple	11558747	C	.	Conflict	1	7	"not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	1/23/2017	-23.58	3.714285714	BLB	3
35465	Simple	11558492	G	.	Conflict	1	3	Rhizomelic chondrodysplasia punctata type 2;Rhizomelic chondrodysplasia punctata;not specified	6/14/2016	-15	1	BLB	3
35602	Simple	193922394	C	.	Conflict	1	4	"Permanent neonatal diabetes mellitus;Neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.15	2.25	BLB	3
35608	Simple	113873225	A	.	Conflict	1	5	"Permanent neonatal diabetes mellitus;Neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-13.95	2.4	BLB	3
35631	Simple	61926078	T	.	Conflict	1	5	"Hypertrichotic osteochondrodysplasia;Cardiomyopathy;not specified;Familial atrial fibrillation;Dilated Cardiomyopathy, Dominant"	6/14/2016	-9.3	2.2	BLB	3
35699	Simple	148013251	CGGCGCGGCG	.	Conflict	1	3	Wilson disease;Congenital disorder of glycosylation	6/14/2016	-9.15	2.666666667	BLB	3
35703	Simple	138427376	G	.	Conflict	1	6	Wilson disease;not specified;not provided	9/6/2017	-15.84	0.833333333	BLB	3
35706	Simple	193922103	C	.	Conflict	1	5	Wilson disease;not specified;not provided	1/12/2017	17.4	2.8	P	3
35722	Simple	140708492	A	.	Conflict	1	5	Wilson disease;not specified;not provided	7/17/2017	-18.3	1.6	BLB	3
35752	Simple	142863601	T	.	Conflict	1	5	Bardet-Biedl syndrome;not specified;not provided	7/26/2017	-16.05	2.6	BLB	3
35772	Simple	28730716	C	.	Conflict	1	8	Cardiac arrhythmia;not specified;not provided;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia	7/28/2017	-36	2.75	B	3
35813	Simple	148594123	A	.	Conflict	1	4	Immunodeficiency with hyper IgM type 1;not specified	8/17/2017	-15.15	2	BLB	3
35839	Simple	1800076	A	.	Conflict	1	8	"Cystic fibrosis;Hereditary pancreatitis;not specified;not provided;Lung disease, non-specific"	9/7/2017	-20.07	1	BLB	3
35844	Simple	139379077	G	.	Conflict	1	4	Cystic fibrosis;not specified	7/27/2017	-9.45	1.75	BLB	3
35872	Simple	34911792	G	.	Conflict	1	5	Cystic fibrosis;not specified	7/28/2017	-15.9	1.4	BLB	3
35915	Simple	117672175	A	.	Conflict	1	6	"Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Osteogenesis imperfecta;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant"	4/15/2017	-11.1	1.833333333	BLB	3
35930	Simple	141726413	A	.	Conflict	1	4	Osteogenesis imperfecta type I;Osteogenesis imperfecta;not specified	7/20/2017	-17.55	2.25	BLB	3
35932	Simple	114322680	A	.	Conflict	1	4	"Ehlers-Danlos syndrome, procollagen proteinase deficient;Osteogenesis imperfecta;not specified;Osteogenesis Imperfecta, Dominant"	1/17/2017	-12.15	2.25	BLB	3
35981	Simple	61752786	T	.	Conflict	1	4	"Hyperaldosteronism, familial, type I;Congenital adrenal hyperplasia;not specified"	6/14/2016	-12.15	2.25	BLB	3
35998	Simple	41297018	T	.	Conflict	1	4	Severe combined immunodeficiency with sensitivity to ionizing radiation;Severe combined immunodeficiency disease;not specified;not provided	7/31/2017	-10.2	2.25	BLB	3
36005	Simple	151024019	C	.	Conflict	1	5	"Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified;Arrhythmogenic right ventricular dysplasia/cardiomyopathy"	9/25/2017	-10.44	2.2	BLB	3
36009	Simple	193922639	A	.	Conflict	1	5	"Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;not specified"	6/23/2017	-14.04	1.8	BLB	3
36015	Simple	17133512	AA	.	Conflict	1	8	"Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy;not specified;Cardiomyopathy, ARVC"	6/14/2016	-37.5	2.875	B	3
36016	Simple	77445784	A	.	Conflict	1	8	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy;not specified;Cardiomyopathy, ARVC"	8/9/2017	-26.01	2.125	B	3
36026	Simple	17604693	T	.	Conflict	1	10	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	8/15/2017	-37.8	2.2	B	3
36060	Simple	112287730	T	.	Conflict	1	15	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	6/8/2017	-48.3	1.266666667	B	3
36086	Simple	111671429	A	.	Conflict	1	13	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	5/4/2017	-39.9	1.307692308	B	3
36104	Simple	112084407	T	.	Conflict	1	8	Marfan syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	6/28/2017	-22.95	1.75	BLB	3
36137	Simple	141918432	G	.	Conflict	1	7	"Fukuyama congenital muscular dystrophy;Cardiomyopathy;not specified;Walker-Warburg congenital muscular dystrophy;Dilated Cardiomyopathy, Recessive"	7/31/2017	-11.1	1.428571429	BLB	3
36208	Simple	144798843	T	.	Conflict	1	6	"Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young,  type 2;not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant;Transient Neonatal Diabetes, Recessive"	6/1/2017	-15.15	1.666666667	BLB	3
36222	Simple	142829768	A	.	Conflict	1	6	"Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young,  type 2;not specified;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant;Transient Neonatal Diabetes, Recessive"	6/14/2016	-14.85	2	BLB	3
36279	Simple	2274084	T	.	Conflict	1	9	"Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;not specified;Nonsyndromic Hearing Loss, Recessive"	5/9/2017	-41.04	2.333333333	B	3
36353	Simple	142204928	A	.	Conflict	1	5	"Maturity-onset diabetes of the young,  type 1;Diabetes mellitus type 2;not specified;not provided;Maturity-onset diabetes of the young;Hyperinsulinism, Dominant"	11/14/2016	-12.51	1.6	BLB	3
36412	Simple	193922357	GCCGCC	.	Conflict	1	4	"Maturity-onset diabetes of the young, type 4;Neonatal diabetes mellitus;not specified;Monogenic diabetes"	11/20/2015	-11.25	4	BLB	3
36426	Simple	193922705	A	.	Conflict	1	6	"Cardiac arrhythmia;Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiomyopathy, ARVC"	7/24/2017	-12.9	1.833333333	BLB	3
36429	Simple	36210421	A	.	Conflict	1	7	Cardiac arrhythmia;Long QT syndrome 2;Long QT syndrome;not specified;not provided;Torsades de pointes;Cardiovascular phenotype;Sudden unexplained death	8/18/2017	-27.57	1.571428571	B	3
36448	Simple	45529531	G	.	Conflict	1	9	"Myofibrillar myopathy, ZASP-related;Cardiomyopathy;not specified;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant"	8/11/2017	-24.9	1.666666667	B	3
36451	Simple	72658861	C	.	Conflict	1	9	Familial hypercholesterolemia;not specified	7/27/2017	-40.05	1.777777778	B	3
36453	Simple	137943601	A	.	Conflict	1	8	Familial hypercholesterolemia;Hypercholesterolaemia	3/30/2017	29.4	1.75	P	3
36460	Simple	72658867	A	.	Conflict	1	9	Familial hypercholesterolemia	8/22/2017	-29.25	1.666666667	B	3
36461	Simple	45508991	T	.	Conflict	1	11	Familial hypercholesterolemia;not specified;not provided	7/27/2017	-51.75	1.545454545	B	3
36462	Simple	137853964	A	.	Conflict	1	9	Familial hypercholesterolemia;not specified;not provided;Hypercholesterolaemia	11/2/2017	-16.17	0.555555556	BLB	3
36464	Simple	146354103	T	.	Conflict	1	5	Familial hypercholesterolemia;not specified	8/31/2016	-11.07	2.2	BLB	3
36469	Simple	76210637	C	.	Conflict	1	5	Leydig cell agenesis;Gonadotropin-independent familial sexual precocity;not specified;Hypergonadotropic hypogonadism	9/12/2017	-10.8	1.8	BLB	3
36476	Simple	267607578	A	.	Conflict	1	5	Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;not specified;not provided	5/31/2017	9.6	2.2	PLP	3
36499	Simple	11466026	C	.	Conflict	1	4	Familial Mediterranean fever;not specified	7/12/2017	-9.6	0.5	BLB	3
36506	Simple	11466045	G	.	Conflict	1	6	Familial Mediterranean fever;not specified	8/4/2017	-9.45	1.5	BLB	3
36524	Simple	138770431	T	.	Conflict	1	7	"Multiple endocrine neoplasia, type 1;not specified;Hereditary cancer-predisposing syndrome;Hyperparathyroidism;Multiple endocrine neoplasia"	8/8/2017	-23.7	1.142857143	BLB	3
36543	Simple	77120160	A	.	Conflict	1	4	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome	3/28/2016	-20.4	2.5	BLB	3
36607	Simple	193922380	C	.	Conflict	1	9	Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy	7/31/2017	-9.63	2.111111111	BLB	3
36610	Simple	11570112	C	.	Conflict	1	9	"Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/27/2017	-32.01	2.555555556	B	3
36614	Simple	11570052	T	.	Conflict	1	5	Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype	7/28/2017	-14.01	2.2	BLB	3
36628	Simple	1064795889	-	.	Conflict	1	6	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;Cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	8/11/2017	-11.4	1.666666667	BLB	3
36630	Simple	193922653	G	.	Conflict	1	5	"Atrial septal defect;Cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	1/12/2017	-12.3	1.2	BLB	3
36631	Simple	28730765	T	.	Conflict	1	5	"Atrial septal defect;Cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	10/5/2016	-9.9	2	BLB	3
36652	Simple	34396614	G	.	Conflict	1	5	Familial hypertrophic cardiomyopathy 1;Cardiomyopathy;not specified;Hypertrophic cardiomyopathy	8/4/2017	-18.9	2.6	BLB	3
36681	Simple	146102241	T	.	Conflict	1	8	"Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;not specified;Cardiovascular phenotype"	8/21/2017	-23.34	3.125	BLB	3
36696	Simple	148197254	T	.	Conflict	1	7	"Glycogen storage disease of heart, lethal congenital;Cardiomyopathy;not specified;Wolff-Parkinson-White syndrome;Cardiovascular phenotype;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome"	8/3/2017	-15.6	1.857142857	BLB	3
36697	Simple	79474211	T	.	Conflict	1	7	"Glycogen storage disease of heart, lethal congenital;Wolff-Parkinson-White pattern;Cardiomyopathy;not specified;Wolff-Parkinson-White syndrome;PRKAG2 cardiac syndrome;Cardiovascular phenotype;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome"	7/20/2017	-23.7	1.714285714	BLB	3
36745	Simple	193922628	T	.	Conflict	1	6	"Cardiac arrhythmia;not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	7/21/2017	-16.2	1.666666667	BLB	3
36765	Simple	41315493	A	.	Conflict	1	6	Atrial fibrillation;Long QT syndrome;Brugada syndrome;not specified;not provided;Ventricular tachycardia;Ventricular tachycardia;Pulmonary valve stenosis (rare);Cardiovascular phenotype	8/12/2017	-26.7	2.833333333	B	3
36769	Simple	190139590	T	.	Conflict	1	5	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma;not specified;not provided	7/7/2017	-13.5	1.6	BLB	3
36777	Simple	139532210	G	.	Conflict	1	3	Cardiac arrhythmia;Long QT syndrome;not specified	7/16/2017	-11.55	2.666666667	BLB	3
36778	Simple	111966833	A	.	Conflict	1	2	Hereditary pancreatitis;not specified	7/19/2017	-12	0.5	BLB	3
36799	Simple	193922579	T	.	Conflict	1	3	"Maturity-onset diabetes of the young, type 3;not specified;Maturity-onset diabetes of the young"	3/29/2017	-9.15	2.333333333	BLB	3
36838	Simple	141166864	G	.	Conflict	1	4	"Familial hypoplastic, glomerulocystic kidney;not specified"	4/11/2017	-12.15	2	BLB	3
36859	Simple	35719192	A	.	Conflict	1	8	Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	5/9/2017	-20.37	2.125	BLB	3
36912	Simple	145040665	A	.	Conflict	1	4	"Thrombocytopenia, X-linked;not specified;not provided"	2/15/2017	-9	1.25	BLB	3
36974	Simple	1801316	C	.	Conflict	1	3	Mitochondrial complex I deficiency;not specified;not provided	1/5/2017	-15	2.666666667	BLB	3
37077	Simple	6336	T	.	Conflict	1	2	Hereditary insensitivity to pain with anhidrosis;Familial medullary thyroid carcinoma	8/8/2017	-9	0.5	BLB	3
37084	Simple	114814747	A	.	Conflict	1	3	Holoprosencephaly 9;Culler-Jones syndrome;not specified;Culler-jones syndrome;Holoprosencephaly	6/6/2017	-13.8	1.333333333	BLB	3
37380	Simple	28903091	A	.	Conflict	1	5	Nijmegen breakage syndrome-like disorder;not specified;Hereditary cancer-predisposing syndrome	8/20/2017	-11.55	2.2	BLB	3
37381	Simple	181016343	A	.	Conflict	1	8	Nijmegen breakage syndrome-like disorder;not specified;not provided;Hereditary cancer-predisposing syndrome	9/5/2017	-10.74	0.75	BLB	3
37389	Simple	80357015	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/28/2017	-14.7	0.5	BLB	3
37392	Simple	80357498	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	1/9/2017	22.8	1.5	P	3
37430	Simple	80358329	-	.	Conflict	1	10	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-33.57	1.5	B	3
37440	Simple	80356994	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/24/2017	-12.21	1.166666667	BLB	3
37465	Simple	41286298	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/7/2017	-12.18	1.6	BLB	3
37470	Simple	80357108	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-14.1	1.2	BLB	3
37487	Simple	397507204	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/17/2017	-9	0.5	BLB	3
37488	Simple	80357361	T	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/19/2017	-11.4	1	BLB	3
37499	Simple	80358113	T	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/21/2017	-21.3	2	BLB	3
37504	Simple	80357311	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/10/2017	-8.97	1.2	BLB	3
37506	Simple	80357049	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/24/2017	-9	0.75	BLB	3
37527	Simple	80356919	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/19/2017	-8.7	1	BLB	3
37541	Simple	41293451	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	4/29/2017	-8.4	1	BLB	3
37549	Simple	80357280	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	7/26/2017	-14.31	1.6	BLB	3
37561	Simple	80357407	T	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/27/2017	-10.8	1	BLB	3
37566	Simple	80358015	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	9/22/2017	13.8	0.8	PLP	3
37575	Simple	80357353	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	4/4/2017	-11.7	0.75	BLB	3
37597	Simple	80357389	T	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome"	6/29/2017	25.5	1.4	P	3
37600	Simple	28897674	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/9/2017	-12	0.8	BLB	3
37606	Simple	80358005	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/7/2017	-15.9	2	BLB	3
37613	Simple	1799966	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/11/2017	-14.7	0.8	BLB	3
37614	Simple	80356862	C	.	Conflict	1	9	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	7/13/2017	37.2	1	P	3
37625	Simple	80357061	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome"	2/2/2017	19.8	1.5	P	3
37627	Simple	80357034	T	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	8/30/2017	9	0.333333333	PLP	3
37628	Simple	80357034	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	4/18/2017	8.7	0.75	PLP	3
37636	Simple	41293459	T	.	Conflict	1	7	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	11/1/2017	26.1	0.714285714	P	3
37641	Simple	80358114	C	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	9/14/2017	-10.8	1	BLB	3
37648	Simple	45553935	G	.	Conflict	1	7	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	7/25/2017	31.8	0.714285714	P	3
37659	Simple	55808233	G	.	Conflict	1	7	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/7/2017	-22.11	1.857142857	BLB	3
37670	Simple	1800751	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;not specified;not provided;Hereditary cancer-predisposing syndrome"	11/29/2017	19.5	1	P	3
37676	Simple	397507251	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified"	6/12/2017	-11.7	1	BLB	3
37678	Simple	273902774	-	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified"	7/18/2017	-9	0.333333333	BLB	3
37685	Simple	80358133	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	5/18/2017	-9.27	1.2	BLB	3
37690	Simple	80357088	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome"	8/29/2017	-9	1	BLB	3
37700	Simple	56328013	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-12	0.5	BLB	3
37702	Simple	80358006	A	.	Conflict	1	11	"Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/7/2017	-52.5	1.909090909	B	3
37703	Simple	80358179	G	.	Conflict	1	7	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/28/2017	-15.18	1.571428571	BLB	3
37709	Simple	55874646	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/28/2017	-14.67	1.333333333	BLB	3
37714	Simple	138705202	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	11/16/2015	-17.61	3	BLB	3
37717	Simple	276174802	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/2/2017	-8.94	1.25	BLB	3
37720	Simple	80358393	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	9/6/2017	-11.4	1.2	BLB	3
37722	Simple	80358398	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/8/2017	-14.07	1.6	BLB	3
37741	Simple	56390402	A	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/25/2017	-24.9	1.285714286	B	3
37758	Simple	80358463	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/3/2017	-9.21	1.4	BLB	3
37760	Simple	80358467	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	5/3/2017	-11.28	2	BLB	3
37781	Simple	55968715	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/26/2017	-21.87	1.5	BLB	3
37798	Simple	80358528	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	9/8/2017	-13.8	1.4	BLB	3
37829	Simple	80358572	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/21/2017	-12	0.75	BLB	3
37842	Simple	80358592	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/22/2017	-9.27	0.8	BLB	3
37861	Simple	80359407	-	.	Conflict	1	8	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/2/2017	-20.88	1.375	BLB	3
37865	Simple	28897723	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/12/2017	-9.15	2	BLB	3
37883	Simple	80359432	-	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/5/2017	-12.21	1.428571429	BLB	3
37895	Simple	80359442	-	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/5/2017	-14.7	1	BLB	3
37917	Simple	80358698	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	11/7/2017	-11.82	2	BLB	3
37927	Simple	80358705	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/29/2017	-11.91	1.5	BLB	3
37932	Simple	80358716	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/29/2017	-14.04	1.5	BLB	3
37941	Simple	80358730	G	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	11/6/2017	-12.51	1.142857143	BLB	3
37946	Simple	80358731	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/18/2017	-14.7	0.75	BLB	3
37968	Simple	397507352	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/3/2017	-8.7	1.25	BLB	3
37972	Simple	80358776	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	7/28/2017	-13.77	1.4	BLB	3
37983	Simple	80358784	G	.	Conflict	1	8	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/14/2017	-12.42	1.75	BLB	3
37992	Simple	80358799	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/18/2017	-9	1	BLB	3
37995	Simple	45491005	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/15/2017	-22.2	1.333333333	BLB	3
38003	Simple	56157628	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/28/2017	-20.4	1	BLB	3
38004	Simple	80358820	A	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	5/25/2017	-8.7	1	BLB	3
38005	Simple	80358822	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	11/2/2017	-8.94	1.25	BLB	3
38006	Simple	80358823	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/8/2017	-9.21	1.4	BLB	3
38020	Simple	56191579	C	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/17/2017	-15.15	1.285714286	BLB	3
38021	Simple	56191579	T	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	10/2/2017	-18.9	1.5	BLB	3
38032	Simple	80358866	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/27/2017	-11.7	0.75	BLB	3
38052	Simple	56019712	T	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/29/2017	-11.7	1	BLB	3
38063	Simple	80358896	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/7/2017	-9	0.75	BLB	3
38067	Simple	276174879	-	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	5/8/2017	-15.24	1.25	BLB	3
38077	Simple	28897743	A	.	Conflict	1	10	"Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia, complementation group D1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	7/26/2017	50.16	1.4	P	3
38081	Simple	80358932	G	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/23/2017	-27.3	1.428571429	B	3
38083	Simple	80358941	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/3/2017	-9.27	0.8	BLB	3
38084	Simple	397507382	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/8/2017	-17.07	1.2	BLB	3
38096	Simple	81002852	A	.	Conflict	1	9	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/1/2017	-32.37	1.777777778	B	3
38097	Simple	81002904	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/28/2017	-9.48	1.166666667	BLB	3
38109	Simple	74047012	T	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/3/2017	-13.5	1.6	BLB	3
38131	Simple	80359027	A	.	Conflict	1	9	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	11/1/2017	51.6	1	P	3
38134	Simple	28897745	G	.	Conflict	1	8	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/7/2017	-26.4	1.875	B	3
38135	Simple	80359037	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/16/2017	-9	0.75	BLB	3
38136	Simple	80359038	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	3/2/2017	-14.31	2	BLB	3
38139	Simple	80359055	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/4/2017	-14.85	1.8	BLB	3
38152	Simple	28897705	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/28/2017	-11.37	1.5	BLB	3
38163	Simple	81002838	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/9/2017	-16.44	1.833333333	BLB	3
38168	Simple	11571747	C	.	Conflict	1	16	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	8/7/2017	-58.8	2.1875	B	3
38175	Simple	80359122	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	9/11/2017	-9.3	0.25	BLB	3
38180	Simple	80359129	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/15/2017	-17.97	1	BLB	3
38182	Simple	81002813	A	.	Conflict	1	2	"Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome"	3/21/2016	8.4	1.5	PLP	3
38191	Simple	45457795	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/26/2017	-11.52	2.333333333	BLB	3
38194	Simple	80359143	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/28/2017	-11.4	1	BLB	3
38199	Simple	587782878	-	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/8/2017	-17.37	1.4	BLB	3
38200	Simple	80359150	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/14/2017	-11.91	1.5	BLB	3
38201	Simple	80359152	A	.	Conflict	1	9	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	7/20/2017	43.2	1.111111111	P	3
38205	Simple	28897755	T	.	Conflict	1	10	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/8/2017	-29.7	1.6	B	3
38211	Simple	80359165	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/24/2017	-8.91	1.6	BLB	3
38217	Simple	80359171	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/6/2017	-9.6	0.833333333	BLB	3
38222	Simple	80359189	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/14/2017	-11.7	0.75	BLB	3
38224	Simple	397507423	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/13/2017	-8.7	1.2	BLB	3
38233	Simple	28897759	T	.	Conflict	1	11	"Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	11/1/2017	51.96	1	P	3
38241	Simple	79483201	A	.	Conflict	1	9	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/18/2017	-34.5	1.333333333	B	3
38243	Simple	81002867	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/14/2017	-24.6	1.8	B	3
38248	Simple	55939572	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/12/2017	-23.7	2	BLB	3
38250	Simple	28897760	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/27/2017	-12.27	0.666666667	BLB	3
38251	Simple	80359228	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/23/2017	-21.9	1.166666667	BLB	3
38257	Simple	55775473	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/9/2017	-19.5	1.5	BLB	3
38258	Simple	11571640	C	.	Conflict	1	8	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	7/31/2017	-22.71	1.625	BLB	3
38298	Simple	13073139	A	.	Conflict	1	5	Biotinidase deficiency;not provided	5/18/2017	21.3	1.2	P	3
38327	Simple	116474260	T	.	Conflict	1	3	Hyperekplexia hereditary;Hyperekplexia;not specified	8/11/2017	-12	0.666666667	BLB	3
38340	Simple	202247790	-	.	Conflict	1	4	Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy;not specified;not provided	5/25/2017	15.93	1.5	P	3
38794	Simple	28383481	A	.	Conflict	1	4	Renal carnitine transport defect;not provided	6/22/2017	12.6	1.5	PLP	3
38863	Simple	61735045	A	.	Conflict	1	6	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified"	8/2/2017	-29.4	1.833333333	B	3
38888	Simple	3087425	T	.	Conflict	1	2	Werner syndrome;not specified	8/11/2017	-10.8	1.5	BLB	3
38915	Simple	199422321	A	.	Conflict	1	3	"Revesz syndrome;Dyskeratosis congenita autosomal dominant;not specified;Dyskeratosis Congenita, Dominant"	6/14/2016	-9	1	BLB	3
38916	Simple	142777869	T	.	Conflict	1	3	"Revesz syndrome;Dyskeratosis congenita autosomal dominant;Dyskeratosis congenita;Dyskeratosis Congenita, Dominant"	6/29/2017	-12	0.666666667	BLB	3
39020	Simple	7958709	G	.	Conflict	1	3	"I cell disease;not specified;not provided;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis, Type II"	1/24/2017	-9	1	BLB	3
39121	Simple	35719940	T	.	Conflict	1	5	"Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;Leukemia, acute myeloid, susceptibility to;not specified;Dyskeratosis Congenita, Recessive"	8/21/2017	-15.3	0.8	BLB	3
39125	Simple	61748181	T	.	Conflict	1	6	"Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive"	8/11/2017	-33	1.666666667	B	3
39134	Simple	2256408	G	.	Conflict	1	2	"Parkinson disease 8, autosomal dominant;not specified"	1/30/2017	-12	1	BLB	3
39193	Simple	33958906	T	.	Conflict	1	2	"Parkinson disease 8, autosomal dominant"	3/10/2017	-9	0.5	BLB	3
39200	Simple	35303786	C	.	Conflict	1	2	"Parkinson disease 8, autosomal dominant"	7/14/2017	-9	0.5	BLB	3
39221	Simple	33995883	G	.	Conflict	1	2	"Parkinson disease 8, autosomal dominant"	7/27/2017	-9	0.5	BLB	3
39267	Simple	1055138	G	.	Conflict	1	3	"Bietti crystalline corneoretinal dystrophy;not specified;not provided;Corneal Dystrophy, Recessive"	6/14/2016	-16.2	2	BLB	3
39286	Simple	141686314	T	.	Conflict	1	4	Dyskeratosis congenita autosomal dominant;not specified;not provided	7/11/2017	-18	0.75	BLB	3
39466	Simple	117671123	T	.	Conflict	1	6	"Myofibrillar myopathy;Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Myofibrillar Myopathy, Dominant"	7/28/2017	-30.6	1.5	B	3
39486	Simple	4426527	G	.	Conflict	1	2	"Primary hyperoxaluria, type I;not specified;Primary hyperoxaluria"	6/26/2016	-9	1	BLB	3
40223	Simple	144467873	A	.	Conflict	1	3	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not provided"	6/27/2017	11.73	0.666666667	PLP	3
40418	Simple	2227986	T	.	Conflict	1	4	not specified;Rasopathy;Noonan-Like Syndrome Disorder	4/23/2017	-9.18	1.75	BLB	3
40421	Simple	2229073	T	.	Conflict	1	4	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;not specified;Rasopathy;Noonan-Like Syndrome Disorder	8/1/2017	-11.91	1.75	BLB	3
41502	Simple	143638171	C	.	Conflict	1	10	Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	10/16/2017	-41.67	1.4	B	3
41505	Simple	150973053	G	.	Conflict	1	3	Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis	7/26/2017	-9.3	0	BLB	3
41509	Simple	141576417	G	.	Conflict	1	5	Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome	9/28/2017	-20.4	0.8	BLB	3
41511	Simple	34919187	T	.	Conflict	1	6	Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	8/11/2017	-19.8	1.166666667	BLB	3
41512	Simple	200756935	T	.	Conflict	1	6	"Desmoid disease, hereditary;Carcinoma of colon;Familial adenomatous polyposis 1;Neoplasm of stomach;not specified;not provided;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome"	7/31/2017	-10.2	0.166666667	BLB	3
41521	Simple	147655929	T	.	Conflict	1	5	"Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;Familial adenomatous polyposis"	8/29/2017	-17.67	1	BLB	3
41523	Simple	148725540	G	.	Conflict	1	6	Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	8/21/2017	-20.07	1.166666667	BLB	3
41525	Simple	201629780	G	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome	8/2/2017	-13.2	1.75	BLB	3
41526	Simple	140493115	G	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome	9/28/2017	-16.8	1	BLB	3
41527	Simple	386833391	-	.	Conflict	1	7	Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	10/25/2017	-31.2	1	B	3
41534	Simple	148878262	T	.	Conflict	1	6	Familial adenomatous polyposis 1;not specified;not provided;Hereditary cancer-predisposing syndrome	8/4/2017	-9	1	BLB	3
41542	Simple	28897708	C	.	Conflict	1	16	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/7/2017	-50.4	1.8125	B	3
41543	Simple	28897710	G	.	Conflict	1	12	"Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/11/2017	-50.7	2.416666667	B	3
41551	Simple	80358703	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	5/10/2017	-18	2	BLB	3
41559	Simple	55794205	T	.	Conflict	1	11	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	8/8/2017	-46.5	1.636363636	B	3
41560	Simple	79456940	A	.	Conflict	1	8	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	7/31/2017	-25.17	1.25	B	3
41563	Simple	55716624	T	.	Conflict	1	11	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer"	8/8/2017	-13.92	1.363636364	BLB	3
41568	Simple	80359128	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	8/10/2017	-10.77	1.8	BLB	3
41579	Simple	116150891	A	.	Conflict	1	5	Melanoma-pancreatic cancer syndrome;not specified;not provided;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome	9/27/2017	-21	0.6	BLB	3
41585	Simple	369802820	C	.	Conflict	1	4	Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided;Multiple Cutaneous and Uterine Leiomyomas	12/29/2016	-9.3	1	BLB	3
41610	Simple	201315884	C	.	Conflict	1	3	"Renal cell carcinoma, papillary, 1;not specified;not provided;Hereditary cancer-predisposing syndrome"	8/4/2017	-12	0.333333333	BLB	3
41623	Simple	34589476	T	.	Conflict	1	7	"Renal cell carcinoma, papillary, 1;not specified;not provided;Hereditary cancer-predisposing syndrome;Neoplasm"	9/22/2017	-15.84	0.857142857	BLB	3
41624	Simple	56391007	T	.	Conflict	1	7	"Congenital diaphragmatic hernia;Renal cell carcinoma, papillary, 1;not specified;not provided;Hereditary cancer-predisposing syndrome;Neoplasm;Carcinoma"	8/11/2017	-17.49	2.142857143	BLB	3
41629	Simple	35225896	G	.	Conflict	1	6	"Renal cell carcinoma, papillary, 1;not specified;not provided;Hereditary cancer-predisposing syndrome"	10/26/2017	-23.4	1.666666667	BLB	3
41648	Simple	202145681	A	.	Conflict	1	4	not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	10/16/2017	-15	0.5	BLB	3
41652	Simple	202026056	T	.	Conflict	1	5	not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/23/2017	-15.6	0.4	BLB	3
41654	Simple	149258400	A	.	Conflict	1	3	Gorlin syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/3/2017	-14.4	0.666666667	BLB	3
41656	Simple	138154222	T	.	Conflict	1	5	Gorlin syndrome;not provided;Hereditary cancer-predisposing syndrome;Holoprosencephaly	7/27/2017	-18	0.6	BLB	3
41660	Simple	113663584	T	.	Conflict	1	4	Gorlin syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	9/1/2017	-11.7	0.5	BLB	3
41666	Simple	143464326	A	.	Conflict	1	4	Gorlin syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Holoprosencephaly	7/28/2017	-15	0.5	BLB	3
41667	Simple	56023271	T	.	Conflict	1	5	Gorlin syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Holoprosencephaly	6/27/2017	-20.4	1	BLB	3
41669	Simple	17881753	T	.	Conflict	1	2	"Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome"	8/3/2017	-8.7	1	BLB	3
41672	Simple	147327414	G	.	Conflict	1	8	"Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Caf??-au-lait macules with pulmonary stenosis;not specified;not provided;Hereditary cancer-predisposing syndrome"	8/9/2017	-34.8	1.125	B	3
41675	Simple	148736217	T	.	Conflict	1	3	"Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome"	7/20/2017	-8.97	1.333333333	BLB	3
41678	Simple	148154172	T	.	Conflict	1	3	"Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome"	8/14/2017	-9	0.666666667	BLB	3
41686	Simple	118203481	A	.	Conflict	1	6	Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	7/31/2017	-20.4	1.166666667	BLB	3
41687	Simple	118203493	T	.	Conflict	1	5	Tuberous sclerosis 1;Focal cortical dysplasia type II;Autism spectrum disorders;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	9/25/2017	-18	0.4	BLB	3
41690	Simple	118203532	C	.	Conflict	1	6	Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	7/20/2017	-18	0.5	BLB	3
41692	Simple	75820036	C	.	Conflict	1	6	Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	7/30/2017	-24.6	1.666666667	B	3
41694	Simple	199755731	T	.	Conflict	1	6	Lymphangiomyomatosis;Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	9/8/2017	-18.3	0.333333333	BLB	3
41695	Simple	76801599	C	.	Conflict	1	4	Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not provided;Hereditary cancer-predisposing syndrome	7/25/2017	-9.3	0.75	BLB	3
41696	Simple	118203742	T	.	Conflict	1	7	Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/7/2017	-23.94	2	BLB	3
41709	Simple	201671325	T	.	Conflict	1	8	Turcot syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	6/23/2017	-16.14	0.75	BLB	3
41714	Simple	201343342	G	.	Conflict	1	7	Turcot syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	10/17/2017	-10.47	0.571428571	BLB	3
41721	Simple	146176004	G	.	Conflict	1	5	Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	9/27/2017	-15	0.6	BLB	3
41722	Simple	139438201	C	.	Conflict	1	6	not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/8/2017	-18	0.833333333	BLB	3
41724	Simple	150195368	T	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/17/2017	-14.64	1.25	BLB	3
41726	Simple	45484298	A	.	Conflict	1	10	Hirschsprung disease 1;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/4/2017	-26.94	0.9	B	3
41727	Simple	45486591	T	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/18/2017	-11.97	1.25	BLB	3
41731	Simple	45509392	A	.	Conflict	1	3	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	7/22/2017	-12	0.333333333	BLB	3
41732	Simple	45517238	A	.	Conflict	1	7	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/8/2017	-23.4	1.142857143	BLB	3
41733	Simple	45517294	A	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/7/2017	-12.24	1	BLB	3
41735	Simple	45478595	T	.	Conflict	1	3	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/4/2017	-17.4	1	BLB	3
41748	Simple	45517423	T	.	Conflict	1	8	Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Tuberous sclerosis and lymphangiomyomatosis	8/11/2017	-25.47	1.375	B	3
41751	Simple	35352891	A	.	Conflict	1	7	MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome	7/31/2017	-20.7	0.857142857	BLB	3
41752	Simple	144079536	T	.	Conflict	1	6	MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome	8/4/2017	-11.37	1.333333333	BLB	3
41759	Simple	79777494	A	.	Conflict	1	6	MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome	9/26/2017	-18.84	0.833333333	BLB	3
41763	Simple	75321043	T	.	Conflict	1	7	MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome	9/26/2017	-24.84	0.857142857	B	3
41766	Simple	77542170	C	.	Conflict	1	6	MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome	8/11/2017	17.1	0.666666667	P	3
41779	Simple	140592056	A	.	Conflict	1	6	Juvenile polyposis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Gastrointestinal polyposis;Juvenile Polyposis	8/4/2017	-18.3	0.666666667	BLB	3
41783	Simple	35187787	A	.	Conflict	1	7	Hereditary diffuse gastric cancer;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome	8/7/2017	-27.6	1.428571429	B	3
41787	Simple	142822590	A	.	Conflict	1	6	Hereditary diffuse gastric cancer;Neoplasm of stomach;not specified;not provided;Hereditary cancer-predisposing syndrome;Colon cancer	8/14/2017	-17.94	1.166666667	BLB	3
41788	Simple	149755320	G	.	Conflict	1	8	Myhre syndrome;Juvenile polyposis syndrome;Osler hemorrhagic telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Gastrointestinal polyposis;Juvenile Polyposis	8/8/2017	-24	0.625	B	3
41789	Simple	140743238	T	.	Conflict	1	6	Juvenile polyposis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	9/29/2017	-9.84	0.833333333	BLB	3
41790	Simple	77524207	A	.	Conflict	1	3	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified;not provided	8/15/2017	-12	0.666666667	BLB	3
41800	Simple	149951350	G	.	Conflict	1	3	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified;not provided	8/2/2017	-9	0.666666667	BLB	3
41801	Simple	139913632	T	.	Conflict	1	3	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome;not specified;not provided	8/17/2017	-12	0.666666667	BLB	3
41804	Simple	80357024	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	7/20/2017	-9	0.75	BLB	3
41831	Simple	80357087	A	.	Conflict	1	9	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Breast carcinoma;Breast and/or ovarian cancer"	9/11/2017	-23.37	1.333333333	BLB	3
41837	Simple	144867876	T	.	Conflict	1	5	Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;not specified;not provided;Hereditary cancer-predisposing syndrome	8/18/2017	-15	0.4	BLB	3
41839	Simple	192489011	A	.	Conflict	1	7	"Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;not specified;not provided;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant"	7/24/2017	-25.8	1	B	3
41846	Simple	35118262	A	.	Conflict	1	5	"Hirschsprung disease 1;Multiple endocrine neoplasia, type 2;not specified;not provided;Hereditary cancer-predisposing syndrome;Hirschsprung Disease, Dominant"	8/2/2017	-21	0.6	BLB	3
41852	Simple	2959656	T	.	Conflict	1	4	"Primary hyperparathyroidism;Multiple endocrine neoplasia, type 1;not specified;not provided"	8/22/2017	-16.44	2	BLB	3
41863	Simple	143483053	T	.	Conflict	1	4	Multiple fibrofolliculomas;not specified;not provided;Hereditary cancer-predisposing syndrome;Spontaneous pneumothorax	7/31/2017	-15	0.75	BLB	3
41890	Simple	200533370	C	.	Conflict	1	5	"Epilepsy, X-linked, with variable learning disabilities and behavior disorders;not specified;not provided"	8/22/2017	-23.07	1.2	BLB	3
41910	Simple	147012990	C	.	Conflict	1	8	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	8/8/2017	-18.18	1.5	BLB	3
41926	Simple	150516929	T	.	Conflict	1	7	"Alpha-B crystallinopathy;Primary familial hypertrophic cardiomyopathy;not specified;Dilated cardiomyopathy 1II;Congenital cataract;Posterior polar cataract;Myofibrillar Myopathy, Dominant"	11/7/2017	-12.81	1.142857143	BLB	3
42094	Simple	200796606	G	.	Conflict	1	3	Fumarase deficiency;not provided;Hereditary cancer-predisposing syndrome	3/28/2017	8.7	0.666666667	PLP	3
42095	Simple	367543046	TTTTTT	.	Conflict	1	4	Fumarase deficiency;not provided;Hereditary cancer-predisposing syndrome	10/30/2017	16.8	0.75	P	3
42098	Simple	367543058	G	.	Conflict	1	6	Central core disease;Congenital myopathy with fiber type disproportion;not specified;not provided;RYR1-Related Disorders	6/26/2017	12.33	1.666666667	PLP	3
42125	Simple	61733458	A	.	Conflict	1	5	Deficiency of ferroxidase;not specified	7/27/2017	-21.6	1.6	BLB	3
42273	Simple	145985318	T	.	Conflict	1	5	"Emery-Dreifuss muscular dystrophy 1, X-linked;not specified"	8/9/2017	-19.2	2.2	BLB	3
42276	Simple	151074632	A	.	Conflict	1	5	"Emery-Dreifuss muscular dystrophy 1, X-linked;not specified;Cardiovascular phenotype"	9/8/2017	-11.1	1.4	BLB	3
42334	Simple	2228241	A	.	Conflict	1	12	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	7/21/2017	-33.45	1.25	B	3
42335	Simple	140396599	T	.	Conflict	1	9	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis	6/14/2016	-27	1	B	3
42356	Simple	377338217	T	.	Conflict	1	4	"Ectopia lentis, isolated, autosomal dominant;Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2;Acromicric dysplasia;Geleophysic dysplasia 2;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Marfan lipodystrophy syndrome"	6/1/2017	-11.7	1	BLB	3
42367	Simple	183306990	A	.	Conflict	1	10	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	7/17/2017	-24.45	1.6	B	3
42455	Simple	201449986	C	.	Conflict	1	5	Fabry disease;not specified;Hypertrophic cardiomyopathy	11/2/2016	-8.4	1.8	BLB	3
42464	Simple	150547672	G	.	Conflict	1	4	Fabry disease;not specified;Deoxygalactonojirimycin response	1/6/2017	-14.67	1.5	BLB	3
42487	Simple	397515877	ATCGCGCCCATCGCGCCC	.	Conflict	1	6	"Atrial fibrillation, familial, 3;Long QT syndrome;not specified;Cardiovascular phenotype"	7/31/2017	-9.66	2.166666667	BLB	3
42535	Simple	35690719	A	.	Conflict	1	3	not specified;Hypertrophic cardiomyopathy	11/30/2016	-8.91	2.333333333	BLB	3
42540	Simple	375882485	A	.	Conflict	1	11	"Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	11/10/2017	48	1	P	3
42543	Simple	35736435	T	.	Conflict	1	8	Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	8/4/2017	-22.5	2.5	BLB	3
42549	Simple	200224422	T	.	Conflict	1	4	not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	8/1/2017	-12.51	2.75	BLB	3
42571	Simple	397515929	A	.	Conflict	1	7	"not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	4/24/2017	-16.2	2	BLB	3
42599	Simple	36211722	A	.	Conflict	1	7	"Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/14/2016	-16.2	2	BLB	3
42626	Simple	199865688	T	.	Conflict	1	5	Primary dilated cardiomyopathy;Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not specified;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy;Paroxysmal atrial fibrillation	8/21/2017	-10.95	2.4	BLB	3
42652	Simple	35078470	T	.	Conflict	1	8	Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	8/6/2017	-30.21	2	B	3
42666	Simple	397515991	T	.	Conflict	1	4	Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not provided;Hypertrophic cardiomyopathy	6/30/2017	21	2	P	3
42687	Simple	200663253	A	.	Conflict	1	6	"not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	5/16/2017	-11.7	1.5	BLB	3
42688	Simple	61729664	A	.	Conflict	1	6	not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	7/31/2017	-19.14	1.5	BLB	3
42736	Simple	200162906	T	.	Conflict	1	7	"not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	8/17/2017	-18	1.142857143	BLB	3
42757	Simple	150291001	A	.	Conflict	1	6	"not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/7/2017	-9	2.5	BLB	3
42767	Simple	201012766	T	.	Conflict	1	7	Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype	7/31/2017	-29.61	2	B	3
42780	Simple	138753870	C	.	Conflict	1	5	not specified;not provided;Hypertrophic cardiomyopathy	6/16/2017	-21.6	2.2	BLB	3
42787	Simple	397516070	G	.	Conflict	1	4	Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy	8/4/2017	19.2	1.25	P	3
42820	Simple	397516088	T	.	Conflict	1	3	not specified;not provided;Hypertrophic cardiomyopathy	2/3/2017	8.79	2	PLP	3
42829	Simple	139506719	T	.	Conflict	1	11	"Familial hypertrophic cardiomyopathy 1;Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/27/2017	-34.17	1.636363636	B	3
42862	Simple	121913626	T	.	Conflict	1	3	not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	1/18/2017	8.49	2.333333333	PLP	3
42894	Simple	2069544	A	.	Conflict	1	5	not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	6/20/2017	-13.44	2	BLB	3
42896	Simple	139882431	A	.	Conflict	1	9	"Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	8/3/2017	-23.61	1.444444444	BLB	3
42926	Simple	397516165	T	.	Conflict	1	4	Primary dilated cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy	4/23/2017	11.49	1.75	PLP	3
42938	Simple	45496496	G	.	Conflict	1	12	"Primary dilated cardiomyopathy;Myosin storage myopathy;Myopathy, distal, 1;not specified;not provided;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	8/4/2017	-17.25	1.5	BLB	3
42995	Simple	200852418	T	.	Conflict	1	10	"Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	2/14/2017	-10.71	2.4	BLB	3
43084	Simple	45523233	G	.	Conflict	1	8	"Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/14/2016	-9	1.5	BLB	3
43098	Simple	45516091	A	.	Conflict	1	3	Primary dilated cardiomyopathy;not specified;not provided;Cardiovascular phenotype	11/3/2015	10.8	2	PLP	3
43222	Simple	111033252	A	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.84	2.2	BLB	3
43278	Simple	111033287	T	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-13.44	2	BLB	3
43358	Simple	397516338	G	.	Conflict	1	7	"Familial hypertrophic cardiomyopathy 1;Limb-girdle muscular dystrophy, type 2F;Delta-sarcoglycanopathy;not specified;not provided;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/27/2017	-17.61	1.428571429	BLB	3
43361	Simple	370714315	-	.	Conflict	1	9	"Familial restrictive cardiomyopathy;not specified;Cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome"	7/9/2017	-18.18	2.333333333	BLB	3
43367	Simple	3729712	A	.	Conflict	1	4	not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	7/28/2017	-10.8	1.5	BLB	3
43372	Simple	75491697	T	.	Conflict	1	4	not specified;Hypertrophic cardiomyopathy	7/9/2017	-15.18	3	BLB	3
43393	Simple	201240150	A	.	Conflict	1	4	not specified;Hypertrophic cardiomyopathy	7/18/2017	-14.31	2	BLB	3
43453	Simple	150127220	T	.	Conflict	1	5	Amyloidogenic transthyretin amyloidosis;not specified;Cardiovascular phenotype	8/4/2017	-22.5	1.4	BLB	3
43455	Simple	2276382	A	.	Conflict	1	3	Amyloidogenic transthyretin amyloidosis;not specified;Cardiovascular phenotype	7/20/2017	-12.3	2.333333333	BLB	3
43576	Simple	1800095	A	.	Conflict	1	7	Cystic fibrosis;Hereditary pancreatitis;not specified;not provided	8/9/2017	-23.1	0.857142857	BLB	3
43587	Simple	397516434	T	.	Conflict	1	4	Li-Fraumeni syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	3/29/2017	10.8	1.5	PLP	3
43588	Simple	1800371	A	.	Conflict	1	8	Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome	8/4/2017	-36.15	2.75	B	3
43594	Simple	121913343	A	.	Conflict	1	5	Liver cancer;Li-Fraumeni syndrome 1;Malignant tumor of prostate;Li-Fraumeni syndrome;Acute myeloid leukemia;not provided;Neoplasm of the breast;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Neoplasm	10/26/2017	25.5	1.4	P	3
43629	Simple	397516457	A	.	Conflict	1	3	Familial hypertrophic cardiomyopathy 2;not specified;not provided	7/31/2017	11.73	0.666666667	PLP	3
43651	Simple	374443596	T	.	Conflict	1	8	"Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/14/2016	-14.64	1.75	BLB	3
43675	Simple	200754249	A	.	Conflict	1	5	Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;Primary familial hypertrophic cardiomyopathy;not specified;Increased left ventricular wall thickness	8/3/2017	-9.18	1.6	BLB	3
43701	Simple	144256966	A	.	Conflict	1	5	"not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	7/18/2017	-10.47	1.8	BLB	3
43719	Simple	41267517	A	.	Conflict	1	6	"not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	8/18/2017	-12.57	1.166666667	BLB	3
43734	Simple	138498780	T	.	Conflict	1	5	"not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	7/25/2017	-13.2	1.8	BLB	3
43745	Simple	114303476	A	.	Conflict	1	4	not specified;Catecholaminergic polymorphic ventricular tachycardia	7/18/2017	-16.41	2.25	BLB	3
43762	Simple	186181155	A	.	Conflict	1	5	"not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	7/25/2017	-8.64	2	BLB	3
43769	Simple	200525962	G	.	Conflict	1	4	Sudden cardiac death;not specified;not provided;Catecholaminergic polymorphic ventricular tachycardia	7/31/2017	-11.07	2	BLB	3
43772	Simple	397516526	C	.	Conflict	1	6	"not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	2/10/2017	-19.8	1.833333333	BLB	3
43794	Simple	201880756	T	.	Conflict	1	5	"not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	7/23/2017	-13.8	1.8	BLB	3
43807	Simple	373282364	G	.	Conflict	1	5	"not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	7/25/2017	-9.3	1	BLB	3
43880	Simple	71473272	C	.	Conflict	1	6	"Myofibrillar myopathy, ZASP-related;not specified;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant"	7/24/2017	-10.8	1.5	BLB	3
43903	Simple	114008185	T	.	Conflict	1	6	"Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	8/8/2017	-20.4	1.833333333	BLB	3
43904	Simple	34827377	T	.	Conflict	1	5	"Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	8/3/2017	-14.1	1.4	BLB	3
43906	Simple	397516567	T	.	Conflict	1	5	"Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	7/4/2017	-10.5	2	BLB	3
43909	Simple	200529923	A	.	Conflict	1	5	"Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	12/24/2016	-13.5	1.8	BLB	3
43917	Simple	138452803	A	.	Conflict	1	6	"Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	10/27/2017	-9.3	0.833333333	BLB	3
43934	Simple	146426213	A	.	Conflict	1	4	"Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	5/17/2017	-9	1.25	BLB	3
43949	Simple	397516585	A	.	Conflict	1	3	Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified	10/11/2017	-9.18	1.666666667	BLB	3
43966	Simple	200588338	T	.	Conflict	1	4	"Dilated cardiomyopathy 1DD;not specified;Dilated Cardiomyopathy, Dominant"	6/27/2017	-9.6	2.25	BLB	3
43970	Simple	397516593	AGCAGC	.	Conflict	1	4	"Dilated cardiomyopathy 1DD;Cardiomyopathy;not specified;Dilated Cardiomyopathy, Dominant"	7/24/2017	-11.94	1.5	BLB	3
43971	Simple	189569984	T	.	Conflict	1	5	Primary dilated cardiomyopathy;Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype	7/31/2017	-22.5	1.6	BLB	3
43980	Simple	267607002	T	.	Conflict	1	3	Dilated cardiomyopathy 1DD;not specified;not provided	8/14/2017	11.85	2	PLP	3
43983	Simple	41292592	T	.	Conflict	1	4	"Dilated cardiomyopathy 1DD;not specified;Dilated Cardiomyopathy, Dominant"	7/27/2017	-15.3	2	BLB	3
43995	Simple	201370621	A	.	Conflict	1	5	Dilated cardiomyopathy 1DD;not specified;Dilated cardiomyopathy	7/27/2017	-21.3	1.8	BLB	3
44006	Simple	147356378	G	.	Conflict	1	6	Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype	5/23/2017	-20.88	1.666666667	BLB	3
44011	Simple	60618533	T	.	Conflict	1	4	"Dilated cardiomyopathy 1DD;not specified;Dilated Cardiomyopathy, Dominant"	4/24/2017	-16.5	1.5	BLB	3
44018	Simple	199868951	A	.	Conflict	1	4	"Dilated cardiomyopathy 1DD;not specified;Dilated Cardiomyopathy, Dominant"	6/19/2017	-10.8	2	BLB	3
44024	Simple	183130427	T	.	Conflict	1	4	Dilated cardiomyopathy 1DD;not specified	7/31/2017	-11.34	2	BLB	3
44158	Simple	397516641	-	.	Conflict	1	5	not specified;not provided;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia	8/2/2017	-14.82	2.4	BLB	3
44161	Simple	74114618	T	.	Conflict	1	5	not specified;Catecholaminergic polymorphic ventricular tachycardia	3/9/2017	-19.5	2.4	BLB	3
44232	Simple	2234704	A	.	Conflict	1	7	"Alpha-B crystallinopathy;not specified;Dilated cardiomyopathy 1II;Posterior polar cataract;Myofibrillar Myopathy, Dominant"	7/18/2017	-17.1	1.428571429	BLB	3
44255	Simple	199972656	A	.	Conflict	1	7	"Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant"	6/13/2017	-19.8	1.571428571	BLB	3
44265	Simple	41272699	T	.	Conflict	1	11	"Myofibrillar myopathy 1;Congenital diaphragmatic hernia;Myofibrillar myopathy;not specified;not provided;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant"	8/8/2017	-38.04	2.090909091	B	3
44292	Simple	201654341	T	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified"	4/20/2017	-11.28	4	BLB	3
44293	Simple	200395484	G	.	Conflict	1	6	"Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant"	4/20/2017	-14.28	2.333333333	BLB	3
44307	Simple	142841727	G	.	Conflict	1	9	"Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype"	7/27/2017	-40.74	2	B	3
44313	Simple	191300661	G	.	Conflict	1	2	"Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified"	8/1/2017	-9	0.5	BLB	3
44314	Simple	79068489	G	.	Conflict	1	5	"Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant"	10/2/2017	-11.4	1.4	BLB	3
44328	Simple	62095193	C	.	Conflict	1	6	"Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant"	6/12/2017	-12.6	2.166666667	BLB	3
44336	Simple	55980825	T	.	Conflict	1	9	Atrial septal defect 2;Primary dilated cardiomyopathy;Tetralogy of Fallot;not specified;Ventricular septal defect 1;Atrioventricular septal defect 4;Cardiovascular phenotype	8/1/2017	-19.5	0.333333333	BLB	3
44347	Simple	3752579	T	.	Conflict	1	4	not specified;not provided;Dilated cardiomyopathy 1JJ	5/9/2017	-17.01	2	BLB	3
44380	Simple	70940811	T	.	Conflict	1	5	not specified;not provided;Dilated cardiomyopathy 1JJ;Cardiovascular phenotype	7/28/2017	-16.56	3	BLB	3
44402	Simple	147695488	T	.	Conflict	1	4	not specified;Dilated cardiomyopathy 1JJ;Cardiovascular phenotype	6/26/2017	-8.97	1	BLB	3
44426	Simple	147369153	A	.	Conflict	1	5	Danon disease;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	7/12/2017	-14.7	1.2	BLB	3
44432	Simple	138991195	A	.	Conflict	1	4	Danon disease;not specified	8/18/2017	-11.7	1	BLB	3
44433	Simple	201030806	T	.	Conflict	1	5	Danon disease;not specified;Hypertrophic cardiomyopathy	5/14/2017	-10.8	1.8	BLB	3
44446	Simple	58131640	A	.	Conflict	1	7	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	3/3/2017	-21.3	1.857142857	BLB	3
44473	Simple	28730772	T	.	Conflict	1	10	"Dilated cardiomyopathy 1EE;Familial hypertrophic cardiomyopathy 14;Atrial septal defect 3;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	8/1/2017	-27.9	0.5	B	3
44481	Simple	77679218	T	.	Conflict	1	7	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	6/27/2017	-19.5	1.428571429	BLB	3
44496	Simple	367866050	A	.	Conflict	1	5	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	4/20/2017	-8.7	1.6	BLB	3
44509	Simple	145566711	T	.	Conflict	1	5	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/20/2016	-10.5	1.8	BLB	3
44525	Simple	149460065	A	.	Conflict	1	6	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	8/4/2017	-10.2	1.833333333	BLB	3
44535	Simple	144329079	A	.	Conflict	1	4	Familial hypertrophic cardiomyopathy 14;not specified	7/11/2017	-12.24	2.25	BLB	3
44536	Simple	200854143	T	.	Conflict	1	5	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	1/7/2017	-9.3	1.4	BLB	3
44557	Simple	144807538	A	.	Conflict	1	4	"not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant"	6/14/2016	-8.97	1.5	BLB	3
44651	Simple	35766612	A	.	Conflict	1	7	Marfan syndrome;Congenital aneurysm of ascending aorta;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic aneurysm;Thoracic aortic dissection	7/18/2017	-19.5	1.428571429	BLB	3
44671	Simple	397516844	A	.	Conflict	1	4	"Loeys-Dietz syndrome 2;not specified;Dilated Cardiomyopathy, Dominant"	9/4/2016	-14.1	2	BLB	3
44692	Simple	45476991	A	.	Conflict	1	7	"Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/27/2017	-21.3	2.714285714	BLB	3
44694	Simple	138218523	T	.	Conflict	1	6	Familial hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M;Primary familial hypertrophic cardiomyopathy;not specified;not provided	8/24/2017	-12.18	2.166666667	BLB	3
44707	Simple	397516862	-	.	Conflict	1	8	Familial hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified;not provided	6/23/2017	-19.77	1.5	BLB	3
44714	Simple	146502276	G	.	Conflict	1	8	"Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/2/2017	-15	1.25	BLB	3
44715	Simple	111033327	A	.	Conflict	1	8	"Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-20.34	2.375	BLB	3
44724	Simple	111033222	T	.	Conflict	1	8	"Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-20.67	2.125	BLB	3
44729	Simple	111033293	C	.	Conflict	1	5	"Deafness, autosomal recessive 1A;Nonsyndromic hearing loss and deafness;not specified"	5/9/2017	19.56	1.8	P	3
44739	Simple	2274083	C	.	Conflict	1	8	"Deafness, autosomal recessive 1A;not specified;Nonsyndromic Hearing Loss, Recessive"	5/9/2017	-37.44	2.125	B	3
44740	Simple	104894408	A	.	Conflict	1	9	"Deafness, autosomal recessive 1A;Deafness, autosomal dominant 3a;Nonsyndromic hearing loss and deafness;not specified;Hearing impairment;not provided"	7/20/2017	26.4	1.333333333	P	3
44755	Simple	34988750	T	.	Conflict	1	10	"Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;Nonsyndromic Deafness;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	5/19/2017	-25.8	2.3	B	3
44778	Simple	397516881	A	.	Conflict	1	3	Dilated cardiomyopathy 1HH;not specified;not provided	3/21/2017	8.82	2	PLP	3
44782	Simple	151331972	A	.	Conflict	1	4	"Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;not provided"	6/28/2017	-18.6	3	BLB	3
44820	Simple	373442098	AA	.	Conflict	1	6	Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Rasopathy;Cardio-facio-cutaneous syndrome	8/1/2017	-17.1	1.333333333	BLB	3
44858	Simple	368802003	G	.	Conflict	1	8	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	8/8/2017	-29.64	1.25	B	3
44860	Simple	28763961	T	.	Conflict	1	11	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	8/15/2017	-39.18	2.636363636	B	3
44867	Simple	34239595	G	.	Conflict	1	10	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Cardiovascular phenotype;Cardiomyopathy, ARVC;Arrhythmogenic right ventricular dysplasia"	4/17/2017	-18.18	1.6	BLB	3
44876	Simple	142429411	T	.	Conflict	1	9	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	10/24/2017	-26.97	1	B	3
44881	Simple	145933612	T	.	Conflict	1	9	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiomyopathy, ARVC"	8/4/2017	-18.48	1.333333333	BLB	3
44897	Simple	61731476	A	.	Conflict	1	8	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	8/17/2017	-26.61	2	B	3
44906	Simple	28763965	G	.	Conflict	1	9	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Left ventricular noncompaction cardiomyopathy;Arrhythmogenic right ventricular dysplasia/cardiomyopathy;Cardiomyopathy, ARVC"	10/10/2017	-20.37	1.333333333	BLB	3
44910	Simple	148041814	T	.	Conflict	1	5	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy;not specified"	6/14/2017	-12.27	2.6	BLB	3
44926	Simple	142885240	A	.	Conflict	1	9	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;not provided;Dilated cardiomyopathy;Migraine;Hemiplegia;Cardiomyopathy, ARVC;Arrhythmogenic right ventricular dysplasia"	5/12/2017	-20.61	1.444444444	BLB	3
44929	Simple	78652302	T	.	Conflict	1	10	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiomyopathy, ARVC"	8/3/2017	-40.2	2.2	B	3
44936	Simple	41302885	A	.	Conflict	1	13	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;not provided;Cardiovascular phenotype;Cardiomyopathy, ARVC"	8/18/2017	-37.35	1.769230769	B	3
44940	Simple	397516953	A	.	Conflict	1	2	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified"	7/24/2017	-8.4	1.5	BLB	3
44943	Simple	147000526	G	.	Conflict	1	9	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Cardiomyopathy, ARVC"	7/27/2017	-18.39	1.666666667	BLB	3
44956	Simple	139509870	T	.	Conflict	1	5	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified;not provided;Cardiovascular phenotype"	9/30/2017	-8.58	2	BLB	3
44962	Simple	397516963	C	.	Conflict	1	4	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;not specified"	7/24/2017	-13.68	2.5	BLB	3
44968	Simple	138329459	C	.	Conflict	1	8	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Cardiomyopathy, ARVC"	7/24/2017	-20.55	1.875	BLB	3
44969	Simple	142717240	G	.	Conflict	1	9	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	10/2/2017	-13.29	1.555555556	BLB	3
44980	Simple	201930322	A	.	Conflict	1	6	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	10/5/2016	-12.45	1.833333333	BLB	3
44982	Simple	200476515	T	.	Conflict	1	7	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	12/21/2016	-12.84	1.285714286	BLB	3
45003	Simple	139851304	C	.	Conflict	1	6	"Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified;Cardiomyopathy, ARVC"	8/4/2017	-21.6	1.5	BLB	3
45007	Simple	200586695	G	.	Conflict	1	5	"Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified"	7/14/2017	-8.64	1.6	BLB	3
45008	Simple	142742483	G	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Cardiomyopathy, ARVC"	7/27/2017	-14.7	2.25	BLB	3
45013	Simple	200122872	G	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Cardiomyopathy, ARVC"	7/16/2017	-10.2	1.75	BLB	3
45033	Simple	146882581	A	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not specified;Arrhythmogenic right ventricular dysplasia/cardiomyopathy"	8/15/2017	-13.17	2	BLB	3
45077	Simple	150821281	A	.	Conflict	1	8	"Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype;Dysplasia, arrhythmogenic right ventricular"	9/21/2017	-16.98	1.75	BLB	3
45081	Simple	139139859	C	.	Conflict	1	6	"Arrhythmogenic right ventricular cardiomyopathy, type 9;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided"	6/13/2017	-11.28	2	BLB	3
45083	Simple	62001015	A	.	Conflict	1	5	"Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;not provided;Cardiomyopathy, ARVC"	10/17/2017	-13.2	2	BLB	3
45097	Simple	190878719	A	.	Conflict	1	9	Loeys-Dietz syndrome 1;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;not provided	10/31/2017	-27.27	2.111111111	B	3
45388	Simple	143346402	T	.	Conflict	1	6	"Hypertrichotic osteochondrodysplasia;Dilated cardiomyopathy 1O;not specified;Familial atrial fibrillation;Dilated Cardiomyopathy, Dominant"	4/25/2017	-11.1	1.666666667	BLB	3
45407	Simple	2291550	A	.	Conflict	1	6	"Hypertrichotic osteochondrodysplasia;Dilated cardiomyopathy 1O;not specified;Familial atrial fibrillation;Dilated Cardiomyopathy, Dominant"	12/27/2016	-12.9	1.833333333	BLB	3
45410	Simple	377384557	G	.	Conflict	1	6	"Hypertrichotic osteochondrodysplasia;Dilated cardiomyopathy 1O;not specified;Familial atrial fibrillation;Dilated Cardiomyopathy, Dominant"	8/30/2017	-12	1.166666667	BLB	3
45426	Simple	115931035	T	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	7/1/2016	-15	2.2	BLB	3
45427	Simple	35188020	T	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-9	2.5	BLB	3
45454	Simple	397517197	ACGACG	.	Conflict	1	3	not specified	5/22/2017	-8.7	1	BLB	3
45486	Simple	41277374	G	.	Conflict	1	3	Primary dilated cardiomyopathy;not specified	8/8/2017	-11.7	0.666666667	BLB	3
45501	Simple	150075979	T	.	Conflict	1	3	"Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1b;Deafness, autosomal dominant 3b;Hidrotic ectodermal dysplasia syndrome;not specified"	4/21/2017	-11.67	1.333333333	BLB	3
45503	Simple	35002004	T	.	Conflict	1	3	"Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1b;Deafness, autosomal dominant 3b;Hidrotic ectodermal dysplasia syndrome;not specified"	7/6/2017	-10.41	2.666666667	BLB	3
45563	Simple	61754640	A	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-9.3	2.666666667	BLB	3
45564	Simple	35089879	T	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-9.9	2.333333333	BLB	3
45571	Simple	338489	G	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-9.9	2.333333333	BLB	3
45581	Simple	7904077	T	.	Conflict	1	4	"Dilated cardiomyopathy 1W;not specified;Dilated Cardiomyopathy, Dominant"	7/24/2017	-14.1	2.75	BLB	3
45582	Simple	141033098	C	.	Conflict	1	5	Dilated cardiomyopathy 1W;Cardiomyopathy;not specified;not provided;Cardiovascular phenotype	8/28/2017	-8.64	1.4	BLB	3
45587	Simple	137877092	T	.	Conflict	1	5	"Dilated cardiomyopathy 1W;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/21/2017	-18	2.4	BLB	3
45588	Simple	189781480	G	.	Conflict	1	4	"Dilated cardiomyopathy 1W;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/6/2017	-14.7	0.75	BLB	3
45594	Simple	71579374	G	.	Conflict	1	6	Dilated cardiomyopathy 1W;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Cardiovascular phenotype	9/13/2017	-14.34	1.666666667	BLB	3
45602	Simple	397517237	-	.	Conflict	1	4	Dilated cardiomyopathy 1W;not specified;Dilated cardiomyopathy	5/9/2017	-9.6	1.5	BLB	3
45609	Simple	71579379	T	.	Conflict	1	4	"Dilated cardiomyopathy 1W;not specified;Dilated Cardiomyopathy, Dominant"	7/24/2017	-14.1	2.5	BLB	3
45627	Simple	397517249	C	.	Conflict	1	3	ANKRD1-related dilated cardiomyopathy;not specified	5/24/2017	-12.21	1.666666667	BLB	3
45628	Simple	150797476	T	.	Conflict	1	6	ANKRD1-related dilated cardiomyopathy;not specified;Dilated cardiomyopathy;Cardiovascular phenotype	7/25/2017	-8.94	1.666666667	BLB	3
45631	Simple	397517250	-	.	Conflict	1	4	"Cardiomyopathy;ANKRD1-related dilated cardiomyopathy;not specified;Dilated Cardiomyopathy, Dominant"	6/14/2016	-12.3	2.75	BLB	3
45658	Simple	139337135	C	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	8/3/2016	-12	1.25	BLB	3
45676	Simple	117592152	T	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-8.4	2.75	BLB	3
45681	Simple	146273185	T	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-10.8	1.75	BLB	3
45686	Simple	116541276	C	.	Conflict	1	4	"Glycogen storage disease of heart, lethal congenital;not specified;Cardiovascular phenotype"	4/11/2017	-12.84	2.25	BLB	3
45688	Simple	144426409	T	.	Conflict	1	7	"Glycogen storage disease of heart, lethal congenital;not specified;Wolff-Parkinson-White syndrome;Cardiovascular phenotype;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome"	7/13/2017	-17.7	1.857142857	BLB	3
45696	Simple	201878539	A	.	Conflict	1	4	"Glycogen storage disease of heart, lethal congenital;not specified"	7/20/2017	-8.94	1.25	BLB	3
45710	Simple	142482217	T	.	Conflict	1	5	"Glycogen storage disease of heart, lethal congenital;not specified;Wolff-Parkinson-White syndrome;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome"	6/23/2017	-8.7	1.6	BLB	3
45738	Simple	145029525	T	.	Conflict	1	6	"Glycogen storage disease of heart, lethal congenital;not specified;Wolff-Parkinson-White syndrome;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome"	4/4/2017	-8.4	1.666666667	BLB	3
45834	Simple	147370522	A	.	Conflict	1	5	"Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiomyopathy, ARVC"	5/30/2017	-13.2	2	BLB	3
45861	Simple	185917383	T	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-11.7	1.4	BLB	3
45866	Simple	111033369	A	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-10.8	1.6	BLB	3
45885	Simple	111033288	A	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-11.4	1.5	BLB	3
45891	Simple	181255269	T	.	Conflict	1	4	"Deafness, autosomal recessive 12;Usher syndrome, type 1D;not specified;not provided"	5/23/2017	-9	1	BLB	3
45892	Simple	397517316	-	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	10/19/2016	-8.7	1.4	BLB	3
45930	Simple	56107171	T	.	Conflict	1	3	not specified	1/26/2015	-9.24	3.333333333	BLB	3
45939	Simple	79271090	T	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-15.6	2	BLB	3
45973	Simple	114745089	C	.	Conflict	1	6	"Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/22/2017	-10.2	1.666666667	BLB	3
46043	Simple	201733315	A	.	Conflict	1	3	not specified;not provided	11/30/2016	-10.5	3.666666667	BLB	3
46065	Simple	376497158	A	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-13.8	2.6	BLB	3
46074	Simple	144906721	A	.	Conflict	1	6	Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease	6/14/2016	-15.81	2.166666667	BLB	3
46097	Simple	113747896	A	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-9.3	2.666666667	BLB	3
46136	Simple	192707412	T	.	Conflict	1	4	"not specified;Cardiomyopathy, ARVC"	12/13/2016	-12.3	2.75	BLB	3
46140	Simple	116911972	C	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;not provided"	8/15/2017	-14.01	1.75	BLB	3
46141	Simple	34099410	T	.	Conflict	1	5	"Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	8/8/2017	-19.5	3	BLB	3
46156	Simple	11924644	T	.	Conflict	1	5	"Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	8/15/2017	-19.5	2.4	BLB	3
46160	Simple	139399951	A	.	Conflict	1	6	"Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Cardiac arrest;Cardiovascular phenotype"	6/14/2017	-16.8	1.166666667	BLB	3
46171	Simple	148185335	A	.	Conflict	1	6	"Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy;not specified;not provided;Cardiovascular phenotype"	7/21/2017	-8.88	1.666666667	BLB	3
46173	Simple	147742157	G	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;not provided"	7/12/2017	-11.37	1.5	BLB	3
46186	Simple	200056085	TCTC	.	Conflict	1	6	"Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy;Primary familial hypertrophic cardiomyopathy;Cardiomyopathy;not specified;Cardiovascular phenotype"	8/5/2017	-28.2	3	B	3
46187	Simple	138643506	T	.	Conflict	1	5	"Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	7/17/2017	-13.2	1.8	BLB	3
46188	Simple	117812913	C	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	7/31/2017	-15.3	2	BLB	3
46311	Simple	145556097	T	.	Conflict	1	4	"Febrile seizures, familial, 4;not specified"	11/7/2017	-8.61	2	BLB	3
46348	Simple	41308846	A	.	Conflict	1	5	"Febrile seizures, familial, 4;not specified;not provided"	1/31/2017	-16.41	2.2	BLB	3
46351	Simple	186999408	T	.	Conflict	1	3	not specified	7/20/2016	-8.7	3	BLB	3
46374	Simple	41303344	A	.	Conflict	1	4	not specified;not provided;Usher syndrome	9/19/2016	-16.8	2.75	BLB	3
46431	Simple	139872140	T	.	Conflict	1	5	Left ventricular noncompaction 1;not specified;not provided;Left ventricular noncompaction cardiomyopathy	8/3/2017	-11.91	1.4	BLB	3
46442	Simple	61735473	T	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-13.2	3	BLB	3
46443	Simple	61735479	A	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-8.4	2.75	BLB	3
46448	Simple	61731389	C	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-8.4	3.25	BLB	3
46454	Simple	111033516	T	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-11.7	2.4	BLB	3
46457	Simple	45483395	T	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	9/7/2016	-9.3	2.2	BLB	3
46469	Simple	184144118	A	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-9	2.5	BLB	3
46474	Simple	111033496	A	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	10/11/2016	-9.6	2.25	BLB	3
46484	Simple	111033362	C	.	Conflict	1	6	"Retinitis pigmentosa-deafness syndrome;not specified;not provided;Nonsyndromic Hearing Loss, Recessive"	6/15/2017	-13.5	2.333333333	BLB	3
46498	Simple	61862390	A	.	Conflict	1	6	"Retinitis pigmentosa-deafness syndrome;Usher syndrome, type 1F;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-14.4	3.166666667	BLB	3
46505	Simple	113363047	-	.	Conflict	1	4	"Usher syndrome, type 1;not specified;not provided"	2/24/2017	-19.2	3	BLB	3
46516	Simple	28763880	G	.	Conflict	1	3	Familial hypertrophic cardiomyopathy 1;not specified;Hypertrophic cardiomyopathy	6/4/2017	-9	1	BLB	3
46517	Simple	17340492	T	.	Conflict	1	4	Familial hypertrophic cardiomyopathy 1;not specified;Hypertrophic cardiomyopathy	7/27/2017	-14.1	2.5	BLB	3
46522	Simple	138130914	A	.	Conflict	1	4	Familial hypertrophic cardiomyopathy 1;not specified;not provided	7/20/2017	-13.5	1.75	BLB	3
46534	Simple	72546669	T	.	Conflict	1	4	Long QT syndrome;not specified	3/6/2017	-14.07	2	BLB	3
46549	Simple	144505461	T	.	Conflict	1	3	Bartter's syndrome;not specified	9/9/2016	-11.7	1.333333333	BLB	3
46556	Simple	145499142	A	.	Conflict	1	8	"Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant"	5/31/2017	-15.81	1.25	BLB	3
46594	Simple	72648925	C	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	8/4/2017	-15.6	2.4	BLB	3
46597	Simple	55972547	C	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype"	8/11/2017	-20.58	2.8	BLB	3
46599	Simple	72648929	G	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/26/2017	-32.1	1.769230769	B	3
46603	Simple	72648930	G	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	7/14/2017	-9.84	2.4	BLB	3
46613	Simple	143845692	G	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/5/2017	-11.1	1.888888889	BLB	3
46614	Simple	72648937	T	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/3/2017	-31.2	1.615384615	B	3
46621	Simple	72648942	C	.	Conflict	1	14	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/9/2017	-33.6	1.5	B	3
46622	Simple	371785683	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/21/2017	-18.3	1.3	BLB	3
46633	Simple	146983095	C	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-27.6	2.083333333	B	3
46635	Simple	72648946	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/31/2017	-19.2	2	BLB	3
46643	Simple	201263441	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	4/14/2017	-12.24	1.727272727	BLB	3
46644	Simple	72648949	C	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/26/2017	-20.01	1.75	BLB	3
46645	Simple	146219199	G	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/2/2017	-19.8	1.727272727	BLB	3
46646	Simple	184412722	C	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-25.74	1.666666667	B	3
46648	Simple	149131555	T	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/6/2017	-14.7	1.444444444	BLB	3
46654	Simple	140495148	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/31/2017	-19.2	1.7	BLB	3
46658	Simple	76771282	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-17.4	2	BLB	3
46661	Simple	116572520	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/6/2017	-14.7	1.444444444	BLB	3
46667	Simple	146627500	C	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-25.74	1.666666667	B	3
46670	Simple	149470241	A	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/9/2017	-8.88	2	BLB	3
46671	Simple	72648958	T	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	6/19/2017	-8.91	1.833333333	BLB	3
46683	Simple	201394117	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	3/22/2017	-8.4	1.818181818	BLB	3
46684	Simple	72648965	C	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Primary familial hypertrophic cardiomyopathy;not specified;not provided"	7/31/2017	-12.21	2.6	BLB	3
46694	Simple	202102237	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/3/2017	-20.7	1.3	BLB	3
46703	Simple	72648969	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/17/2017	-20.34	1.583333333	BLB	3
46707	Simple	201904848	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	12/8/2016	-11.4	1.666666667	BLB	3
46711	Simple	190935632	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-23.4	1.3	BLB	3
46718	Simple	72648975	T	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	7/31/2017	-8.61	1.8	BLB	3
46721	Simple	149523263	C	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-25.74	1.666666667	B	3
46725	Simple	185062935	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-24	1.2	B	3
46730	Simple	72648977	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/26/2017	-14.4	1.888888889	BLB	3
46733	Simple	113391261	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/25/2017	-25.2	1.909090909	B	3
46736	Simple	72648979	C	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/26/2017	-14.4	1.888888889	BLB	3
46759	Simple	149855485	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-25.74	1.666666667	B	3
46764	Simple	150544093	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/19/2017	-18.6	1.2	BLB	3
46768	Simple	372802604	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/19/2017	-15.3	1.3	BLB	3
46770	Simple	72648987	A	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/9/2017	-27.6	2.333333333	B	3
46771	Simple	141856116	T	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/9/2017	-30.6	2.076923077	B	3
46779	Simple	116307796	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/28/2017	-19.8	1.9	BLB	3
46780	Simple	140003804	C	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/20/2017	-21.6	1.6	BLB	3
46785	Simple	146057575	C	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/22/2017	-15.3	1.090909091	BLB	3
46787	Simple	142812510	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/27/2017	-21	1.7	BLB	3
46795	Simple	372528823	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/6/2017	-11.94	1.7	BLB	3
46806	Simple	144930507	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/20/2017	-17.1	1.6	BLB	3
46827	Simple	189286381	T	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	4/5/2017	-11.52	2.6	BLB	3
46830	Simple	72650010	C	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/6/2017	-24	1.2	B	3
46832	Simple	72650011	A	.	Conflict	1	6	"Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/4/2017	-21.84	2.166666667	BLB	3
46833	Simple	188584219	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-22.2	1.5	BLB	3
46841	Simple	111671438	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;not specified;not provided"	8/1/2017	-9.81	1.222222222	BLB	3
46857	Simple	370080995	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	9/28/2017	-16.2	1	BLB	3
46864	Simple	72650029	C	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/4/2017	-37.2	1.769230769	B	3
46873	Simple	72650031	A	.	Conflict	1	7	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/24/2017	-28.5	2.428571429	B	3
46880	Simple	138192315	T	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-12.3	1.222222222	BLB	3
46889	Simple	368327166	TCTTCT	.	Conflict	1	7	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Paroxysmal familial ventricular fibrillation 1;not specified;Cardiovascular phenotype"	8/9/2017	-27.84	3.142857143	B	3
46893	Simple	371318311	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	5/24/2017	-9.42	2.25	BLB	3
46901	Simple	397517549	-	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/26/2017	-16.2	1.111111111	BLB	3
46904	Simple	140640738	G	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-25.74	1.666666667	B	3
46909	Simple	202014478	T	.	Conflict	1	7	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	8/11/2017	-22.38	2.285714286	BLB	3
46910	Simple	142951505	T	.	Conflict	1	17	"Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/20/2017	-20.64	1.764705882	BLB	3
46914	Simple	189966800	G	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/27/2017	-21.6	1.727272727	BLB	3
46922	Simple	12474306	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-19.8	1.9	BLB	3
46928	Simple	186404793	A	.	Conflict	1	8	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	12/27/2016	-10.2	1.25	BLB	3
46931	Simple	55914517	T	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	8/4/2017	-8.49	2.666666667	BLB	3
46935	Simple	201944202	A	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/9/2017	-10.68	1.5	BLB	3
46943	Simple	72650077	A	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-33.3	1.538461538	B	3
46949	Simple	72647870	G	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	8/3/2017	-16.41	2.333333333	BLB	3
46953	Simple	76815324	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-19.8	1.9	BLB	3
46955	Simple	34706299	G	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	11/26/2016	-8.52	1.545454545	BLB	3
46978	Simple	78269740	A	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/21/2017	-36	1.923076923	B	3
46980	Simple	72677222	C	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-15.6	1.666666667	BLB	3
46988	Simple	72677225	A	.	Conflict	1	7	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/26/2017	-29.91	2.142857143	B	3
47006	Simple	115813214	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/22/2017	-15.3	1.3	BLB	3
47007	Simple	72677231	A	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/10/2017	-22.5	1.583333333	BLB	3
47008	Simple	72677232	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/17/2017	-12.27	1.545454545	BLB	3
47009	Simple	76081119	G	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/28/2017	-15.6	1.666666667	BLB	3
47010	Simple	72677233	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/26/2017	-19.5	1.636363636	BLB	3
47013	Simple	146181477	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-25.74	1.666666667	B	3
47015	Simple	72677237	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/9/2017	-32.4	1.666666667	B	3
47016	Simple	138576504	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/20/2017	-19.8	1.6	BLB	3
47024	Simple	72677242	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/3/2017	-21	1.909090909	BLB	3
47025	Simple	72677243	G	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/17/2017	-8.46	2.833333333	BLB	3
47036	Simple	55663050	G	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-25.74	1.666666667	B	3
47042	Simple	397517599	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/14/2017	-14.01	1.2	BLB	3
47044	Simple	56137037	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-22.8	2	BLB	3
47051	Simple	376857956	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	5/30/2017	-9.54	0.75	BLB	3
47070	Simple	72646808	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/18/2017	-11.4	1.7	BLB	3
47075	Simple	397517612	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/14/2017	-14.01	1.2	BLB	3
47083	Simple	55734111	A	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/19/2017	-11.64	1.666666667	BLB	3
47099	Simple	62178963	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/7/2017	-21.6	2.181818182	BLB	3
47100	Simple	73973147	A	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/24/2017	-35.4	2	B	3
47106	Simple	72646823	C	.	Conflict	1	14	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/4/2017	-30.6	1.785714286	B	3
47127	Simple	55956577	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-22.2	1.5	BLB	3
47135	Simple	397517636	T	.	Conflict	1	8	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-24.21	1.25	B	3
47150	Simple	367622770	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	12/20/2016	-16.5	1.727272727	BLB	3
47151	Simple	188063446	C	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	4/8/2017	-18.3	1.3	BLB	3
47155	Simple	72646842	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	3/16/2017	-16.8	1.444444444	BLB	3
47156	Simple	202017608	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/28/2017	-19.8	1.6	BLB	3
47165	Simple	72646845	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/3/2017	-29.4	1.272727273	B	3
47177	Simple	199895260	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-15.3	1.4	BLB	3
47187	Simple	375006117	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/16/2017	-9.6	1.333333333	BLB	3
47188	Simple	72646850	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-22.2	2.363636364	BLB	3
47200	Simple	200463088	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/24/2017	-20.1	1.636363636	BLB	3
47201	Simple	202240487	T	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/7/2017	-13.95	2.4	BLB	3
47208	Simple	72646859	A	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	6/1/2017	-8.82	2.333333333	BLB	3
47212	Simple	148434577	A	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	7/27/2017	-17.4	1.2	BLB	3
47213	Simple	150661999	T	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/11/2017	-23.94	2.333333333	BLB	3
47222	Simple	56130023	A	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/5/2017	-13.71	1.333333333	BLB	3
47229	Simple	148849567	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/2/2017	-12	1.5	BLB	3
47230	Simple	72646867	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/7/2017	-23.4	1.3	BLB	3
47236	Simple	72646869	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/4/2017	-22.8	2.272727273	BLB	3
47241	Simple	371802557	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	12/7/2016	-21	1.5	BLB	3
47243	Simple	200343420	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/19/2017	-10.95	1.4	BLB	3
47245	Simple	202125813	C	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	6/27/2017	-10.8	2	BLB	3
47248	Simple	72646873	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/17/2017	-14.1	1.5	BLB	3
47253	Simple	72646876	C	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/27/2017	-20.31	1.727272727	BLB	3
47256	Simple	144135510	T	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	4/25/2017	-22.08	2.5	BLB	3
47260	Simple	11904444	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/28/2017	-17.4	2	BLB	3
47265	Simple	55980498	A	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/21/2017	-21.3	1.25	BLB	3
47268	Simple	72646880	G	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/31/2017	-9.9	1.222222222	BLB	3
47292	Simple	55847238	T	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-28.2	1.846153846	B	3
47294	Simple	72646891	A	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-29.4	1.833333333	B	3
47297	Simple	56404770	G	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/25/2017	-34.8	2.076923077	B	3
47302	Simple	55837610	G	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-15.78	1.538461538	BLB	3
47308	Simple	56169243	G	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/27/2017	-26.1	1.833333333	B	3
47309	Simple	146767076	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	5/26/2017	-10.8	1.75	BLB	3
47316	Simple	56293906	C	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-22.2	1.5	BLB	3
47317	Simple	142874389	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/26/2017	-15.6	1.3	BLB	3
47320	Simple	182491843	C	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/27/2017	-19.2	1.727272727	BLB	3
47322	Simple	55762754	G	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/20/2017	-20.4	1.545454545	BLB	3
47332	Simple	201512527	G	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/18/2017	-11.61	1.8	BLB	3
47335	Simple	368914555	A	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	9/23/2016	-8.91	2.333333333	BLB	3
47341	Simple	397517702	A	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	7/28/2017	-11.64	1.666666667	BLB	3
47343	Simple	140350441	C	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/20/2017	-21.6	1.6	BLB	3
47350	Simple	55696153	G	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/27/2017	-18.9	2.181818182	BLB	3
47351	Simple	56372592	A	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/27/2017	-20.31	3	BLB	3
47361	Simple	186681106	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	11/7/2017	-13.2	1	BLB	3
47384	Simple	199875474	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/28/2017	-25.2	1.636363636	B	3
47408	Simple	145373396	C	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	7/28/2017	-9.18	2	BLB	3
47412	Simple	201158906	T	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/2/2017	-11.4	1.333333333	BLB	3
47414	Simple	56264840	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-25.74	1.666666667	B	3
47415	Simple	11896779	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/4/2017	-20.4	1.8	BLB	3
47417	Simple	56345408	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-26.1	2.25	B	3
47446	Simple	202040332	C	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	3/26/2017	-17.58	2	BLB	3
47447	Simple	199859344	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	4/25/2017	-13.41	2.75	BLB	3
47456	Simple	201290358	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/3/2017	-25.62	1.5	B	3
47469	Simple	141624266	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/18/2017	-36.51	1.727272727	B	3
47477	Simple	146181116	A	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	9/12/2017	-25.2	1.538461538	B	3
47484	Simple	115070904	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/31/2017	-25.2	1.909090909	B	3
47497	Simple	149567378	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-41.94	1.666666667	B	3
47501	Simple	150430592	C	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-25.74	1.666666667	B	3
47510	Simple	200847757	A	.	Conflict	1	3	not specified	2/25/2015	-8.61	4	BLB	3
47514	Simple	148617456	T	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/11/2017	-23.94	2.333333333	BLB	3
47520	Simple	72648247	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/26/2017	-15.48	1.727272727	BLB	3
47529	Simple	11694623	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-18.6	2.1	BLB	3
47536	Simple	200173934	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/31/2017	-21.6	1.818181818	BLB	3
47541	Simple	376539252	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/6/2017	-15.3	1.2	BLB	3
47544	Simple	72648255	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/19/2017	-20.1	1.454545455	BLB	3
47545	Simple	72648256	T	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/27/2017	-20.7	2.166666667	BLB	3
47546	Simple	116567963	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/28/2017	-19.8	1.9	BLB	3
47554	Simple	72648258	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-17.4	2	BLB	3
47555	Simple	191484894	A	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/11/2017	-23.94	2.333333333	BLB	3
47559	Simple	62621206	G	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-23.4	2.181818182	BLB	3
47578	Simple	72647885	T	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	7/13/2017	-16.8	1.666666667	BLB	3
47588	Simple	55704830	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/31/2017	-18.51	1.5	BLB	3
47589	Simple	55704830	G	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/27/2017	-17.91	1.727272727	BLB	3
47596	Simple	72648272	A	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/4/2017	-26.64	1.461538462	B	3
47598	Simple	72648273	C	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-19.8	1.615384615	BLB	3
47599	Simple	397517776	-	.	Conflict	1	5	Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;not specified;not provided;Cardiovascular phenotype	7/12/2017	16.35	2.6	P	3
47603	Simple	138968178	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-23.4	1.3	BLB	3
47604	Simple	55977045	C	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/7/2017	-23.4	2.181818182	BLB	3
47620	Simple	397517781	T	.	Conflict	1	8	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/10/2016	-13.2	1.125	BLB	3
47622	Simple	56061641	G	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	5/3/2017	-15.9	1.6	BLB	3
47623	Simple	56026369	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-23.4	1.3	BLB	3
47626	Simple	397517782	AA	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/1/2017	-20.4	1.3	BLB	3
47633	Simple	56273463	A	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/3/2017	-24.3	1.833333333	B	3
47636	Simple	72647894	T	.	Conflict	1	13	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/4/2017	-23.82	1.846153846	BLB	3
47638	Simple	55802460	C	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-22.2	1.5	BLB	3
47641	Simple	55886356	G	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/2/2017	-29.4	2.083333333	B	3
47643	Simple	55669553	T	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/11/2017	-23.94	2.333333333	BLB	3
47652	Simple	56347248	C	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/11/2017	-23.94	2.333333333	BLB	3
47665	Simple	199714102	A	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/2/2017	-26.1	1.416666667	B	3
47669	Simple	190565627	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/22/2017	-15.3	1.3	BLB	3
47674	Simple	55866005	G	.	Conflict	1	8	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/26/2017	-33.51	2.5	B	3
47683	Simple	200378865	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/2/2017	-15.9	1.111111111	BLB	3
47685	Simple	371075036	T	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	2/13/2017	-12.3	1.555555556	BLB	3
47687	Simple	55938627	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/19/2017	-24	1.181818182	B	3
47691	Simple	55806007	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/9/2017	-16.8	2.1	BLB	3
47708	Simple	55838839	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/5/2017	-25.5	1.5	B	3
47709	Simple	55725279	A	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/5/2017	-10.68	1.416666667	BLB	3
47710	Simple	55880440	G	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/4/2017	-23.4	2.181818182	BLB	3
47711	Simple	56324602	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/11/2017	-23.4	1.3	BLB	3
47716	Simple	183923129	T	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	4/21/2017	-12.3	1.222222222	BLB	3
47720	Simple	72629793	G	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	6/19/2017	-20.01	2	BLB	3
47792	Simple	151253841	A	.	Conflict	1	9	"Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/14/2016	-25.14	1.777777778	B	3
47809	Simple	397517825	T	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	7/14/2017	-9.51	1.5	BLB	3
47843	Simple	200204761	G	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	6/3/2017	-12.45	2	BLB	3
47864	Simple	370898981	G	.	Conflict	1	4	"Nonsyndromic hearing loss and deafness;not provided;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	9/7/2016	11.4	1.25	PLP	3
47910	Simple	201171783	A	.	Conflict	1	5	"Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/20/2017	-14.1	1.4	BLB	3
47915	Simple	201763096	C	.	Conflict	1	7	"Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/10/2017	-29.4	1.142857143	B	3
47967	Simple	200157475	T	.	Conflict	1	3	Legius syndrome;not specified	9/13/2017	-9.18	1.666666667	BLB	3
47996	Simple	111033279	G	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-15	2.4	BLB	3
48015	Simple	145013633	T	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	9/13/2016	-9	1.25	BLB	3
48025	Simple	41282936	G	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-8.4	2.75	BLB	3
48043	Simple	149339264	T	.	Conflict	1	18	"Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy;Mandibuloacral dysplasia;not specified;Familial partial lipodystrophy;Cardiovascular phenotype;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/3/2017	-55.98	1.611111111	B	3
48054	Simple	143189394	T	.	Conflict	1	5	"Charcot-Marie-Tooth disease, type 2;not specified"	8/4/2017	-22.98	2	BLB	3
48082	Simple	148557956	A	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type 2;not specified"	8/15/2017	-9.57	3.25	BLB	3
48116	Simple	74846539	A	.	Conflict	1	6	"Limb-girdle muscular dystrophy, type 2F;Delta-sarcoglycanopathy;not specified;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/21/2017	-14.97	1.166666667	BLB	3
48168	Simple	111033396	C	.	Conflict	1	4	"not specified;not provided;Nonsyndromic Hearing Loss, Recessive"	2/2/2017	-11.7	1.25	BLB	3
48257	Simple	142333075	A	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-9.3	2.666666667	BLB	3
48290	Simple	45522138	A	.	Conflict	1	10	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	8/21/2017	-15	1.3	BLB	3
48300	Simple	9858585	T	.	Conflict	1	10	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	5/4/2017	-17.7	1.3	BLB	3
48386	Simple	55961436	T	.	Conflict	1	3	"Usher syndrome, type 2A;not specified"	4/17/2015	-13.2	4	BLB	3
48395	Simple	111033518	T	.	Conflict	1	4	"Usher syndrome, type 2A;not specified;not provided"	8/15/2016	10.98	3.25	PLP	3
48464	Simple	111033269	T	.	Conflict	1	2	Retinitis pigmentosa;not specified;not provided	10/31/2017	-9	3.5	BLB	3
48487	Simple	111033282	T	.	Conflict	1	4	Retinitis pigmentosa;not specified;not provided	10/31/2017	-14.04	3.25	BLB	3
48503	Simple	397518013	-	.	Conflict	1	4	"Usher syndrome, type 2A;Retinitis pigmentosa 39;USH2A-Related Disorders"	8/18/2016	8.7	2.25	PLP	3
48505	Simple	146462407	A	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Retinitis Pigmentosa, Recessive"	6/14/2016	-8.4	2	BLB	3
48516	Simple	111632670	A	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Retinitis Pigmentosa, Recessive"	6/14/2016	-8.4	2.75	BLB	3
48520	Simple	41303255	A	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;not provided;Retinitis Pigmentosa, Recessive"	5/31/2017	-8.4	1.5	BLB	3
48521	Simple	111033333	A	.	Conflict	1	3	Retinitis pigmentosa;not specified;not provided	10/31/2017	-11.4	6	BLB	3
48547	Simple	41303287	C	.	Conflict	1	5	not specified;not provided	10/31/2017	-9.84	2.2	BLB	3
48555	Simple	114402911	A	.	Conflict	1	2	Retinitis pigmentosa;not specified	4/10/2017	-9.6	2.5	BLB	3
48577	Simple	111033394	C	.	Conflict	1	3	not specified;not provided	3/31/2017	-11.1	3.333333333	BLB	3
48782	Simple	118203530	T	.	Conflict	1	4	Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified	7/20/2017	-9.6	0.75	BLB	3
48931	Simple	118203670	C	.	Conflict	1	6	Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/27/2017	-20.1	1.166666667	BLB	3
48984	Simple	118203720	A	.	Conflict	1	8	Tuberous sclerosis 1;Malignant tumor of urinary bladder;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/7/2017	-27.24	2.5	B	3
49015	Simple	118203745	A	.	Conflict	1	5	Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-9.87	0.6	BLB	3
49053	Simple	118203395	T	.	Conflict	1	4	Tuberous sclerosis 1;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/7/2017	-12.27	1	BLB	3
49180	Simple	45492397	A	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/20/2017	-14.1	1.25	BLB	3
49202	Simple	45517097	T	.	Conflict	1	6	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/11/2017	-21.24	2	BLB	3
49258	Simple	45505895	A	.	Conflict	1	5	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	6/29/2017	-16.5	1.8	BLB	3
49266	Simple	45517301	A	.	Conflict	1	3	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified	8/8/2017	-10.5	1.666666667	BLB	3
49331	Simple	35282988	A	.	Conflict	1	5	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/11/2017	-18.87	1.8	BLB	3
49442	Simple	45445593	A	.	Conflict	1	3	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified	9/11/2017	-9.27	0.666666667	BLB	3
49495	Simple	45490993	C	.	Conflict	1	3	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	5/13/2017	-12.27	1	BLB	3
49548	Simple	45517307	T	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/9/2017	-13.2	1.75	BLB	3
49556	Simple	45517328	T	.	Conflict	1	5	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/6/2017	-12.6	0.8	BLB	3
49616	Simple	45517208	T	.	Conflict	1	7	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/18/2017	-23.64	2.142857143	BLB	3
49658	Simple	45517204	A	.	Conflict	1	5	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided	8/3/2017	-17.7	0.8	BLB	3
49912	Simple	45517391	T	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	7/11/2017	-15	0.75	BLB	3
49941	Simple	45506695	A	.	Conflict	1	3	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/28/2017	-9.27	1	BLB	3
49972	Simple	137854152	T	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/30/2017	-12.3	0.75	BLB	3
50170	Simple	45517100	A	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/13/2017	-8.64	1.75	BLB	3
50317	Simple	118161496	C	.	Conflict	1	3	not provided;Inborn genetic diseases	8/14/2017	9.3	2	PLP	3
51047	Simple	56309455	T	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/26/2017	-24.3	1.714285714	B	3
51056	Simple	80358402	T	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/14/2017	-14.37	1.333333333	BLB	3
51060	Simple	55800493	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/22/2017	-19.8	1.333333333	BLB	3
51067	Simple	80358409	T	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/14/2017	-8.7	1	BLB	3
51160	Simple	80358448	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	4/26/2017	-8.97	1	BLB	3
51185	Simple	56091799	G	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/27/2017	-19.95	1.857142857	BLB	3
51192	Simple	56328701	C	.	Conflict	1	14	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/4/2017	-53.1	1.928571429	B	3
51197	Simple	75419644	C	.	Conflict	1	10	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/8/2017	-33.24	1.5	B	3
51207	Simple	55962656	C	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	12/5/2016	-8.7	1.333333333	BLB	3
51249	Simple	55816687	T	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/9/2017	-17.1	1.2	BLB	3
51291	Simple	80358511	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	5/23/2017	-12	0.8	BLB	3
51305	Simple	80359785	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/28/2017	-22.5	1.5	BLB	3
51372	Simple	276174831	AT	.	Conflict	1	10	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/7/2017	-44.04	1.8	B	3
51377	Simple	28897718	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/5/2017	-8.4	1.4	BLB	3
51381	Simple	80358545	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/3/2017	-9.6	1	BLB	3
51409	Simple	81002840	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	6/2/2017	13.5	1.5	PLP	3
51414	Simple	81002841	A	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/29/2017	-10.8	1.333333333	BLB	3
51432	Simple	80358570	G	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/15/2017	-8.7	0.666666667	BLB	3
51465	Simple	80358589	G	.	Conflict	1	9	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Carcinoma of esophagus"	8/18/2017	-28.5	1.222222222	B	3
51530	Simple	80358624	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	11/6/2017	-9.27	1	BLB	3
51621	Simple	81002859	A	.	Conflict	1	2	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified"	10/13/2016	-9	1	BLB	3
51644	Simple	80358674	G	.	Conflict	1	11	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/24/2017	-42.6	1.818181818	B	3
51682	Simple	80358694	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	7/14/2017	-11.97	1	BLB	3
51695	Simple	2219594	A	.	Conflict	1	9	"Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/7/2017	-45.3	2	B	3
51702	Simple	56249050	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/14/2016	-11.4	1.5	BLB	3
51743	Simple	28897731	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	5/28/2017	-12	1	BLB	3
51784	Simple	81002834	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/28/2017	-21.6	1.75	BLB	3
51802	Simple	81002804	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/1/2017	-11.37	1.5	BLB	3
51876	Simple	80358774	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-12	0.75	BLB	3
51895	Simple	55996097	A	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/17/2017	-18.21	1.285714286	BLB	3
51896	Simple	11571657	G	.	Conflict	1	14	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/11/2017	-58.2	2.142857143	B	3
51982	Simple	80358833	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/17/2017	-18	0.833333333	BLB	3
52055	Simple	276174869	T	.	Conflict	1	2	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome"	1/25/2017	-12	1	BLB	3
52057	Simple	56172926	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/21/2017	-18.6	1.6	BLB	3
52087	Simple	11571659	T	.	Conflict	1	11	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/7/2017	-48.3	2.272727273	B	3
52096	Simple	80358880	A	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/7/2017	-9.18	1.714285714	BLB	3
52108	Simple	80358881	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/13/2017	-15	0.6	BLB	3
52183	Simple	80358904	G	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/18/2017	-9	0.666666667	BLB	3
52187	Simple	81002830	A	.	Conflict	1	17	"Familial cancer of breast;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/11/2017	-59.34	1.882352941	B	3
52188	Simple	276174878	-	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/19/2017	-12.6	0.5	BLB	3
52191	Simple	80358906	A	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/27/2017	-9.69	1.714285714	BLB	3
52199	Simple	55712212	T	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/27/2017	-24.81	1.714285714	B	3
52220	Simple	80358916	T	.	Conflict	1	11	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/12/2017	-37.77	1.090909091	B	3
52225	Simple	80358921	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	5/16/2017	-9.21	1.2	BLB	3
52247	Simple	76584943	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	5/5/2016	-23.04	2.5	BLB	3
52260	Simple	80358935	C	.	Conflict	1	8	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/21/2017	-20.88	1.5	BLB	3
52294	Simple	80358950	C	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/19/2017	-19.41	1.714285714	BLB	3
52327	Simple	81002793	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	1/30/2017	-9.6	1	BLB	3
52335	Simple	80358967	A	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/12/2017	-14.37	1.142857143	BLB	3
52336	Simple	80358968	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome"	4/4/2017	-9.72	1.666666667	BLB	3
52345	Simple	56070345	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/24/2017	-11.7	0.5	BLB	3
52347	Simple	80358978	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	7/28/2017	-10.17	0.666666667	BLB	3
52412	Simple	81002819	G	.	Conflict	1	8	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/7/2017	-39.6	2.125	B	3
52414	Simple	81002847	G	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	5/1/2017	-8.7	1	BLB	3
52441	Simple	81002822	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/3/2017	-11.28	2.25	BLB	3
52447	Simple	80359022	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;not provided;Hereditary cancer-predisposing syndrome"	10/19/2017	20.4	0.75	P	3
52451	Simple	81002827	A	.	Conflict	1	10	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/1/2017	-27.27	2	B	3
52453	Simple	183623188	T	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified"	10/25/2017	-8.4	1.333333333	BLB	3
52471	Simple	80359035	T	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	6/1/2017	17.79	1	P	3
52503	Simple	80359051	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/27/2017	-17.7	1	BLB	3
52529	Simple	80359069	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-15.3	0.833333333	BLB	3
52569	Simple	80359082	A	.	Conflict	1	9	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	11/1/2017	43.8	1	P	3
52622	Simple	80359111	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/25/2017	-14.37	1.333333333	BLB	3
52642	Simple	81002818	G	.	Conflict	1	5	"Familial cancer of breast;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/30/2017	-24.6	1.8	B	3
52643	Simple	56268579	G	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified"	10/25/2017	-15	0.333333333	BLB	3
52662	Simple	28897753	G	.	Conflict	1	9	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/12/2017	-25.2	1.333333333	B	3
52669	Simple	81002893	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome"	8/19/2016	24	2	P	3
52692	Simple	28897754	T	.	Conflict	1	17	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/17/2017	-67.2	1.352941176	B	3
52708	Simple	81002892	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/28/2017	-19.2	1.75	BLB	3
52743	Simple	56179254	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	7/17/2017	-19.8	0.8	BLB	3
52753	Simple	80359167	T	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/17/2017	-17.7	1	BLB	3
52757	Simple	81002869	T	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified"	2/8/2017	-8.7	1.333333333	BLB	3
52772	Simple	80359177	A	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/3/2017	-8.7	0.666666667	BLB	3
52800	Simple	80359195	G	.	Conflict	1	8	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/21/2017	-17.67	1.25	BLB	3
52805	Simple	80359198	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	7/11/2017	24	0.6	P	3
52854	Simple	81002848	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/5/2017	-8.7	1.25	BLB	3
52869	Simple	55939572	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/7/2017	-8.85	1.666666667	BLB	3
52910	Simple	56121817	T	.	Conflict	1	10	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	7/12/2017	-19.44	0.8	BLB	3
53061	Simple	120074177	A	.	Conflict	1	3	Long QT syndrome;not provided;Congenital long QT syndrome;Cardiovascular phenotype	5/2/2017	14.7	1	PLP	3
53063	Simple	199473394	A	.	Conflict	1	2	Long QT syndrome 1;Long QT syndrome;not provided;Congenital long QT syndrome	4/14/2017	10.2	2	PLP	3
53229	Simple	147422190	T	.	Conflict	1	6	Cystic fibrosis;Hereditary pancreatitis;not specified;not provided	7/31/2017	21.96	2.166666667	P	3
53465	Simple	150157202	A	.	Conflict	1	4	Cystic fibrosis;not specified	5/30/2017	-9.6	0.5	BLB	3
53684	Simple	200321110	A	.	Conflict	1	4	Cystic fibrosis;not specified;not provided	6/30/2017	8.4	0.75	PLP	3
53751	Simple	199630678	C	.	Conflict	1	3	Cystic fibrosis;not specified	5/23/2017	-9.3	0.666666667	BLB	3
54082	Simple	143486492	A	.	Conflict	1	3	Cystic fibrosis;not specified	12/3/2016	-8.7	1.666666667	BLB	3
54130	Simple	80358325	-	.	Conflict	1	7	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/30/2017	-21.9	1.857142857	BLB	3
54153	Simple	80357164	C	.	Conflict	1	2	"Breast-ovarian cancer, familial 1;not specified"	10/17/2016	8.4	1.5	PLP	3
54178	Simple	80357488	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/21/2017	-8.67	1.5	BLB	3
54200	Simple	80357446	A	.	Conflict	1	8	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	11/1/2017	46.8	1	P	3
54247	Simple	80357150	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 1"	6/6/2016	16.5	1.75	P	3
54251	Simple	55720177	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-19.8	1.166666667	BLB	3
54298	Simple	80357273	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/26/2017	-8.4	1.25	BLB	3
54310	Simple	80357374	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	5/22/2017	-21	1	BLB	3
54329	Simple	80356910	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/27/2017	-12.27	1	BLB	3
54345	Simple	80356859	G	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome"	10/30/2017	-8.7	1	BLB	3
54364	Simple	80357093	T	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided"	5/25/2016	16.2	2	P	3
54394	Simple	80357064	G	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome"	8/28/2017	17.4	1	P	3
54425	Simple	55678461	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/3/2017	-16.47	1.666666667	BLB	3
54541	Simple	80356948	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome"	2/28/2017	-13.77	1.8	BLB	3
54591	Simple	80357337	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/11/2017	-13.5	1.25	BLB	3
54727	Simple	80356970	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/24/2017	-9	0.75	BLB	3
54840	Simple	80358335	-	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/24/2017	-10.11	1	BLB	3
54876	Simple	80358337	-	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	3/29/2017	-11.7	1.2	BLB	3
54970	Simple	28897687	C	.	Conflict	1	12	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome;Breast and/or ovarian cancer"	7/25/2017	-39	1.333333333	B	3
55111	Simple	28897690	T	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/10/2017	-17.37	1.333333333	BLB	3
55174	Simple	80357486	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/28/2017	-9.3	0.8	BLB	3
55214	Simple	80358054	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	8/21/2017	27.6	1.333333333	P	3
55233	Simple	80357095	C	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome"	1/13/2017	-9	1	BLB	3
55259	Simple	56158747	A	.	Conflict	1	8	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/11/2017	-30	2.5	B	3
55272	Simple	80356909	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	9/6/2017	-9	0.75	BLB	3
55279	Simple	80357070	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	12/26/2016	-11.1	1.75	BLB	3
55283	Simple	80357002	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/2/2017	-11.7	1	BLB	3
55341	Simple	80358023	G	.	Conflict	1	9	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	11/1/2017	27.93	1.111111111	P	3
55342	Simple	80358087	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	11/1/2017	17.1	0.833333333	P	3
55368	Simple	80358344	-	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	8/18/2017	34.8	0.833333333	P	3
55386	Simple	80358345	-	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;not provided;Hereditary cancer-predisposing syndrome"	2/14/2017	14.1	1.5	PLP	3
55441	Simple	80357104	A	.	Conflict	1	7	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	7/10/2017	26.4	0.428571429	P	3
55453	Simple	80357270	C	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/15/2017	-8.7	0.666666667	BLB	3
55462	Simple	80357450	T	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome"	11/6/2016	14.1	1.666666667	PLP	3
55539	Simple	80357041	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	9/15/2017	-19.2	1	BLB	3
55541	Simple	80357474	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	1/25/2017	11.13	1.2	PLP	3
55585	Simple	80357286	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/13/2017	-16.8	1.25	BLB	3
55598	Simple	80357268	T	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;Hereditary cancer-predisposing syndrome"	11/1/2017	17.7	0.833333333	P	3
55720	Simple	80357244	T	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/6/2017	-17.67	1.166666667	BLB	3
55725	Simple	8176153	T	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/10/2017	-20.1	1.166666667	BLB	3
55836	Simple	150532648	G	.	Conflict	1	3	"Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Variant of unknown significance;Hereditary sensory and autonomic neuropathy type II"	12/27/2016	-9	1	BLB	3
56316	Simple	386833764	-	.	Conflict	1	3	Joubert syndrome;Meckel-Gruber syndrome;Meckel syndrome type 6;not specified	6/14/2016	-10.2	2	BLB	3
56399	Simple	386833844	A	.	Conflict	1	3	Baller-Gerold syndrome;Rapadilino syndrome;not specified;not provided	12/16/2016	8.43	1.666666667	PLP	3
56593	Simple	386834024	A	.	Conflict	1	4	"Muscle eye brain disease;not provided;Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive"	3/29/2017	11.1	1.25	PLP	3
60545	Simple	202160208	T	.	Conflict	1	3	"not provided;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14"	8/10/2017	10.5	1	PLP	3
60727	Simple	201654872	A	.	Conflict	1	2	not specified;Left ventricular noncompaction 8;Dilated cardiomyopathy 1LL	10/31/2015	-10.8	2	BLB	3
64814	Simple	199620268	C	.	Conflict	1	6	Tuberous sclerosis 1;Focal cortical dysplasia type II;Autism spectrum disorders;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/8/2017	-18.3	0.833333333	BLB	3
64816	Simple	200200869	A	.	Conflict	1	7	Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/7/2017	-25.17	1.571428571	B	3
64847	Simple	201135184	A	.	Conflict	1	3	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/13/2017	-8.94	1.666666667	BLB	3
65083	Simple	397515062	T	.	Conflict	1	3	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/24/2017	-9.3	0.333333333	BLB	3
65289	Simple	370404391	A	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	10/31/2017	-12	0.75	BLB	3
65665	Simple	61752783	A	.	Conflict	1	5	Progressive sclerosing poliodystrophy;Mitochondrial diseases;Camptocormism;not specified;not provided	7/31/2017	-20.1	1.2	BLB	3
65708	Simple	61757484	A	.	Conflict	1	5	"Leber congenital amaurosis 4;Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive"	6/14/2016	-16.5	1.6	BLB	3
65831	Simple	41272687	T	.	Conflict	1	4	Cholestanol storage disease;not specified	7/3/2017	-19.8	1.25	BLB	3
65927	Simple	118192158	A	.	Conflict	1	4	Central core disease;not specified;not provided;RYR1-Related Disorders	5/4/2017	15.96	2	P	3
66673	Simple	60547413	A	.	Conflict	1	3	"Charcot-Marie-Tooth disease type 2E;not specified;not provided;Charcot-Marie-Tooth, Type 1"	5/24/2017	-9.3	0.666666667	BLB	3
66780	Simple	267607603	A	.	Conflict	1	16	"Dilated cardiomyopathy 1A;Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy;Mandibuloacral dysplasia;not specified;not provided;Familial partial lipodystrophy;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	1/11/2017	-51.21	1.1875	B	3
66860	Simple	61444459	A	.	Conflict	1	6	"Primary dilated cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not specified;not provided;Dilated cardiomyopathy;Cardiovascular phenotype"	4/28/2017	21.33	2	P	3
67020	Simple	12720457	T	.	Conflict	1	11	short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome	6/6/2017	-34.14	1.363636364	B	3
67163	Simple	138776684	A	.	Conflict	1	4	Long QT syndrome;not specified;not provided	6/23/2017	-11.4	1.25	BLB	3
67505	Simple	139544114	A	.	Conflict	1	4	Long QT syndrome;not specified;not provided	7/6/2017	-10.5	1.5	BLB	3
67547	Simple	199472885	A	.	Conflict	1	3	Short QT syndrome 1;Long QT syndrome 2;Long QT syndrome;Congenital long QT syndrome	6/14/2017	9.9	1.333333333	PLP	3
67552	Simple	199473505	A	.	Conflict	1	4	Long QT syndrome;not specified;not provided	7/27/2017	-11.7	1	BLB	3
67704	Simple	199473140	T	.	Conflict	1	2	Brugada syndrome;not specified;not provided	3/17/2017	-9	0.5	BLB	3
68032	Simple	199473072	A	.	Conflict	1	3	"Long QT syndrome 3;Cardiac conduction defect, nonspecific;Brugada syndrome;not provided;Congenital long QT syndrome"	7/13/2017	18	0.333333333	P	3
68099	Simple	137853960	T	.	Conflict	1	8	Familial hypercholesterolemia;not specified;not provided;Hypercholesterolaemia	3/30/2017	-24.51	1.25	B	3
68104	Simple	137853963	A	.	Conflict	1	8	Familial hypercholesterolemia;not provided	8/14/2017	-23.97	0.875	BLB	3
68425	Simple	121908242	C	.	Conflict	1	4	"Episodic ataxia type 2;not specified;not provided;Epileptic encephalopathy, early infantile, 42"	9/27/2017	-12.3	0.25	BLB	3
68574	Simple	121917956	C	.	Conflict	1	7	Familial hemiplegic migraine;Seizure Disorders;not specified;not provided;Early infantile epileptic encephalopathy	11/6/2017	-20.91	1.285714286	BLB	3
68588	Simple	121918817	T	.	Conflict	1	4	Autistic disorder of childhood onset;Severe myoclonic epilepsy in infancy;not specified;Seizure disorder;Early infantile epileptic encephalopathy	7/26/2017	-8.88	2.25	BLB	3
68616	Simple	121918799	C	.	Conflict	1	7	Familial hemiplegic migraine type 3;Familial hemiplegic migraine;Seizure Disorders;not specified;Seizures;Generalized tonic-clonic seizures;Absence seizures;Early infantile epileptic encephalopathy	9/7/2017	-15.75	1.428571429	BLB	3
70633	Simple	143011005	A	.	Conflict	1	3	Long QT syndrome;not specified;Cardiovascular phenotype	7/16/2017	-8.94	1.666666667	BLB	3
88737	Simple	199714731	A	.	Conflict	1	2	"not specified;Immunodeficiency 13;Cone-Rod Dystrophy, Dominant"	6/14/2016	-8.4	1.5	BLB	3
89039	Simple	55881945	G	.	Conflict	1	4	Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome	6/28/2017	-9	0.5	BLB	3
89064	Simple	80357075	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/10/2017	-14.67	1	BLB	3
89415	Simple	41295274	T	.	Conflict	1	6	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	6/7/2017	-23.1	1.166666667	BLB	3
91441	Simple	398122550	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/7/2017	-9	0.75	BLB	3
91452	Simple	398122560	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/5/2017	-11.4	1.4	BLB	3
91520	Simple	276174920	TT	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/22/2017	-12	0.333333333	BLB	3
91636	Simple	80358032	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/4/2017	-18.15	1.833333333	BLB	3
91645	Simple	80358105	C	.	Conflict	1	7	"Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/20/2017	-27.6	1.857142857	B	3
91652	Simple	273902770	-	.	Conflict	1	2	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified"	9/7/2017	-9	0	BLB	3
91657	Simple	80358013	T	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	5/9/2017	-13.77	1.6	BLB	3
91666	Simple	80358055	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-14.1	1.25	BLB	3
91667	Simple	273902790	-	.	Conflict	1	2	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified"	6/2/2016	-8.7	1.5	BLB	3
91745	Simple	80359259	-	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/23/2017	-8.7	0.666666667	BLB	3
91799	Simple	398122764	C	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/28/2017	-9	0.75	BLB	3
92292	Simple	387906252	-	.	Conflict	1	4	Very long chain acyl-CoA dehydrogenase deficiency;not provided	4/26/2017	12.3	2	PLP	3
92339	Simple	3797704	G	.	Conflict	1	6	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome	6/20/2017	-22.11	2.333333333	BLB	3
92388	Simple	61733679	T	.	Conflict	1	3	Wilson disease;not specified	7/11/2017	-9.9	2	BLB	3
92389	Simple	148399850	T	.	Conflict	1	4	Wilson disease;not specified	1/1/2017	-9.3	2.75	BLB	3
92400	Simple	398123139	A	.	Conflict	1	3	Biotinidase deficiency;not specified;not provided	3/14/2017	8.82	2	PLP	3
92413	Simple	115311625	A	.	Conflict	1	3	"Limb-girdle muscular dystrophy, type 2A;not specified"	8/16/2017	-15.6	2	BLB	3
92419	Simple	28364364	A	.	Conflict	1	5	"Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive"	7/28/2017	-16.2	1.6	BLB	3
92447	Simple	398123159	T	.	Conflict	1	5	Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not specified;not provided;Hereditary cancer-predisposing syndrome	9/22/2017	14.82	1.2	PLP	3
92453	Simple	398123164	T	.	Conflict	1	4	Fumarase deficiency;not specified;not provided;Hereditary cancer-predisposing syndrome	3/24/2017	8.49	1.5	PLP	3
92493	Simple	11300320	-	.	Conflict	1	3	Galactosylceramide beta-galactosidase deficiency;not specified;Abnormality of brain morphology	10/23/2017	-16.8	1.333333333	BLB	3
92595	Simple	142348718	A	.	Conflict	1	4	Mitochondrial trifunctional protein deficiency;Trifunctional protein deficiency with myopathy and neuropathy;Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not specified;LCHAD Deficiency	4/3/2017	-10.8	1.5	BLB	3
92627	Simple	11934801	C	.	Conflict	1	4	Mucopolysaccharidosis type I;not specified;not provided	9/8/2016	-14.67	1.5	BLB	3
92665	Simple	145400590	C	.	Conflict	1	5	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/8/2017	-20.67	2	BLB	3
92682	Simple	150642856	A	.	Conflict	1	4	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;Methylmalonic acidemia;not specified	6/23/2017	-15.3	2	BLB	3
92725	Simple	61752971	G	.	Conflict	1	2	not specified;Congenital cataract	11/22/2016	-8.7	1.5	BLB	3
92817	Simple	398123319	TT	.	Conflict	1	2	Cowden syndrome 1;not specified;Hereditary cancer-predisposing syndrome	5/26/2017	-10.2	2.5	BLB	3
92847	Simple	144254383	A	.	Conflict	1	4	"Newfoundland rod-cone dystrophy;not specified;Fundus albipunctatus;Retinitis Pigmentosa, Recessive"	6/14/2016	-9.21	1.75	BLB	3
92885	Simple	140349036	G	.	Conflict	1	5	"Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive"	6/22/2017	-12.54	2.4	BLB	3
92924	Simple	36021462	T	.	Conflict	1	4	not specified;not provided;Spastic paraplegia	7/26/2017	-14.94	1.5	BLB	3
92953	Simple	17741922	G	.	Conflict	1	3	"not specified;Congenital Muscular Dystrophy, LAMA2-related"	6/14/2016	-10.5	2	BLB	3
93021	Simple	200006106	A	.	Conflict	1	3	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy"	10/31/2017	-14.4	0.666666667	BLB	3
93027	Simple	113137721	A	.	Conflict	1	2	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy"	7/17/2017	-11.4	1	BLB	3
93151	Simple	60887846	G	.	Conflict	1	3	Cystic fibrosis;not specified	7/4/2017	-9.78	3.333333333	BLB	3
93154	Simple	1800131	G	.	Conflict	1	5	Cystic fibrosis;not specified	6/14/2017	-20.04	1.8	BLB	3
93238	Simple	140689610	A	.	Conflict	1	6	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	7/12/2017	-18.27	1	BLB	3
93249	Simple	193922854	C	.	Conflict	1	10	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;Malignant hyperthermia;RYR1-Related Disorders"	8/22/2017	-21.84	1	BLB	3
93252	Simple	150396398	C	.	Conflict	1	8	"Malignant hyperthermia, susceptibility to, 1;Malignant hyperthermia susceptibility;not specified;Generalized muscle weakness;not provided;Congenital hip dislocation;Malignant hyperthermia;EMG: myopathic abnormalities;Congenital muscular dystrophy;Myopathy, progressive axial with cataracts;RYR1-Related Disorders"	10/31/2017	-19.74	1.5	BLB	3
93255	Simple	118126378	A	.	Conflict	1	8	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	8/9/2017	-23.97	1	BLB	3
93266	Simple	375709463	T	.	Conflict	1	6	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	8/15/2017	-15.24	1.166666667	BLB	3
93269	Simple	137933390	G	.	Conflict	1	10	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders"	6/20/2017	-23.07	1.2	BLB	3
93283	Simple	146617004	T	.	Conflict	1	6	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified"	11/4/2016	-15.27	1.166666667	BLB	3
93290	Simple	114975624	A	.	Conflict	1	8	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders"	7/28/2017	-28.38	1.75	B	3
93359	Simple	199725420	T	.	Conflict	1	3	Maple syrup urine disease;not specified	2/22/2017	-12.21	2	BLB	3
93393	Simple	200330469	T	.	Conflict	1	4	Long QT syndrome;not specified;Cardiovascular phenotype	4/12/2017	-14.31	2	BLB	3
93399	Simple	112532048	T	.	Conflict	1	4	Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified	7/31/2017	-12.27	1	BLB	3
93402	Simple	56394008	T	.	Conflict	1	4	Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified	5/16/2017	-12.21	1.5	BLB	3
93403	Simple	201258230	A	.	Conflict	1	4	Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified	7/9/2017	-12.24	1.25	BLB	3
93411	Simple	201492706	G	.	Conflict	1	6	"Timothy syndrome;Cardiomyopathy, restrictive;Long QT syndrome;Brugada syndrome;not specified;not provided"	9/7/2017	-14.34	1.5	BLB	3
93419	Simple	112414325	A	.	Conflict	1	7	Timothy syndrome;short QT syndrome;Long QT syndrome;Brugada syndrome;not specified;not provided;Cardiovascular phenotype	7/25/2017	-32.1	1.285714286	B	3
93447	Simple	75548401	A	.	Conflict	1	2	"Parkinson disease, late-onset;not specified;not provided"	5/9/2016	-8.7	1.5	BLB	3
93465	Simple	112350099	A	.	Conflict	1	4	Primary ciliary dyskinesia;not specified	8/2/2016	-14.1	2.75	BLB	3
93505	Simple	145967477	A	.	Conflict	1	5	"Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive"	7/27/2017	-15.9	1.8	BLB	3
93517	Simple	41277797	T	.	Conflict	1	7	"Fukuyama congenital muscular dystrophy;not specified;Walker-Warburg congenital muscular dystrophy;Dilated Cardiomyopathy, Recessive"	8/4/2017	-27	1.571428571	B	3
93518	Simple	146951171	A	.	Conflict	1	5	not specified;not provided;Cardiovascular phenotype;Walker-Warburg congenital muscular dystrophy	8/23/2017	-9.21	1.4	BLB	3
93533	Simple	75714509	G	.	Conflict	1	4	Joubert syndrome;Meckel-Gruber syndrome;not specified;not provided	8/23/2017	-13.5	1.5	BLB	3
93539	Simple	35811023	G	.	Conflict	1	6	not specified;not provided;Primary Microcephaly 2 With or Without Cortical Malformations	6/22/2017	-16.8	1.166666667	BLB	3
93560	Simple	375628894	T	.	Conflict	1	3	"Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42"	5/25/2017	-9.21	1.333333333	BLB	3
93584	Simple	55640811	T	.	Conflict	1	4	Pitt-Hopkins-like syndrome 2;not specified	5/10/2017	-10.74	2	BLB	3
93590	Simple	147984237	C	.	Conflict	1	5	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	7/11/2017	-18.9	1.6	BLB	3
93591	Simple	115211871	A	.	Conflict	1	6	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	8/11/2017	-25.5	2.166666667	B	3
93593	Simple	192909520	T	.	Conflict	1	4	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	12/15/2016	-11.28	2.5	BLB	3
93597	Simple	56402642	A	.	Conflict	1	5	Pitt-Hopkins-like syndrome 2;not specified	2/16/2017	-13.47	1.8	BLB	3
93626	Simple	114137271	G	.	Conflict	1	6	Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy	7/10/2017	-21.87	1.666666667	BLB	3
93655	Simple	145296488	G	.	Conflict	1	5	Familial hemiplegic migraine;Seizure Disorders;not specified;Early infantile epileptic encephalopathy	4/9/2017	-13.5	1.6	BLB	3
93672	Simple	192354176	T	.	Conflict	1	6	Early infantile epileptic encephalopathy 9;not specified;not provided	10/31/2017	-26.01	2.5	B	3
93675	Simple	191333060	C	.	Conflict	1	7	Early infantile epileptic encephalopathy 9;not specified;not provided	8/2/2017	-18.15	1.428571429	BLB	3
93709	Simple	139721775	A	.	Conflict	1	2	Smith-Lemli-Opitz syndrome;not specified;not provided	5/31/2017	-10.2	2.5	BLB	3
93750	Simple	202181557	A	.	Conflict	1	5	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified"	7/26/2017	-21.24	2.2	BLB	3
93757	Simple	398123617	T	.	Conflict	1	4	not specified;not provided	7/27/2017	-9.51	1.25	BLB	3
93882	Simple	398123638	G	.	Conflict	1	3	Bethlem myopathy 1;Collagen VI-related myopathy;not specified	6/5/2017	-9.3	0.666666667	BLB	3
93904	Simple	61735827	T	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	7/21/2017	-9.27	1	BLB	3
93920	Simple	142709940	T	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	9/8/2017	-12	0.8	BLB	3
93927	Simple	201879417	A	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided;Myosclerosis	10/2/2017	-9.6	0.6	BLB	3
93960	Simple	140404854	G	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	6/6/2017	-9.27	1	BLB	3
93968	Simple	56230601	C	.	Conflict	1	4	"Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant"	6/14/2016	-9.21	1.75	BLB	3
94036	Simple	7971022	G	.	Conflict	1	4	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	8/11/2017	-15.9	1.75	BLB	3
94039	Simple	79745402	T	.	Conflict	1	5	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	8/9/2017	-22.5	1.2	BLB	3
94041	Simple	144983062	T	.	Conflict	1	4	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified"	6/28/2017	-13.5	1.25	BLB	3
94047	Simple	74867235	T	.	Conflict	1	4	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	8/11/2017	-15.9	1.75	BLB	3
94058	Simple	138427412	A	.	Conflict	1	3	Isovaleryl-CoA dehydrogenase deficiency;not specified	7/12/2016	-9.3	1	BLB	3
94065	Simple	116933453	T	.	Conflict	1	3	Congenital disorder of glycosylation type 1B;Congenital disorder of glycosylation;not specified	1/31/2017	-9.9	2.333333333	BLB	3
94072	Simple	117089191	T	.	Conflict	1	5	Congenital disorder of glycosylation type 1B;Congenital disorder of glycosylation;not specified;not provided	11/2/2017	-15.6	1.8	BLB	3
94074	Simple	143713841	T	.	Conflict	1	4	not specified;not provided	2/18/2016	-11.04	2.25	BLB	3
94090	Simple	4369876	A	.	Conflict	1	10	"Primary erythromelalgia;Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	8/22/2017	-52.5	1.2	B	3
94162	Simple	199895011	T	.	Conflict	1	4	Kabuki syndrome 1;not specified;not provided;Kabuki syndrome	6/14/2016	-9.51	3	BLB	3
94238	Simple	202085637	T	.	Conflict	1	5	Kabuki syndrome 1;not specified;Kabuki syndrome	3/6/2017	-16.41	2	BLB	3
94283	Simple	115849497	A	.	Conflict	1	5	"Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	7/19/2017	-16.8	1.4	BLB	3
94307	Simple	79899601	T	.	Conflict	1	5	"Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	7/24/2017	-18	1	BLB	3
94311	Simple	34997054	A	.	Conflict	1	6	Dysferlinopathy;Muscular dystrophy;not specified;Inborn genetic diseases	7/18/2017	-24	1.5	B	3
94321	Simple	398123787	A	.	Conflict	1	7	"Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy, type 2B;Dysferlinopathy;not provided"	9/26/2017	31.8	1	P	3
94323	Simple	145690047	T	.	Conflict	1	5	"Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	2/15/2017	-12.81	1.6	BLB	3
94325	Simple	7573406	T	.	Conflict	1	6	"Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	8/3/2017	-21.6	1.666666667	BLB	3
94328	Simple	62145939	A	.	Conflict	1	5	"Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	8/7/2017	-16.2	1.6	BLB	3
94373	Simple	147114577	G	.	Conflict	1	3	Joubert syndrome;Oral-facial-digital syndrome;not specified	7/11/2017	-9.24	1	BLB	3
94383	Simple	148979783	C	.	Conflict	1	4	Myoclonic dystonia;not specified	5/9/2017	-15.21	1.5	BLB	3
94446	Simple	1800281	A	.	Conflict	1	7	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype	7/24/2017	-31.5	2	B	3
94481	Simple	376024929	T	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	6/28/2017	-9.27	1	BLB	3
94513	Simple	72468680	G	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	5/30/2017	-11.07	1.666666667	BLB	3
94588	Simple	201297190	C	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	4/27/2017	-12.27	1	BLB	3
94600	Simple	193249735	C	.	Conflict	1	5	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B	7/19/2017	-20.7	2	BLB	3
94608	Simple	143184877	A	.	Conflict	1	6	Duchenne muscular dystrophy;not specified;Cardiovascular phenotype	7/17/2017	-23.67	1.166666667	BLB	3
94613	Simple	144329742	G	.	Conflict	1	3	Duchenne muscular dystrophy;not specified;Cardiovascular phenotype	5/26/2017	-8.91	2	BLB	3
94655	Simple	200887855	A	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	11/4/2016	-9	1.333333333	BLB	3
94674	Simple	200025478	T	.	Conflict	1	4	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B	5/22/2017	-12	1	BLB	3
94675	Simple	142441725	T	.	Conflict	1	5	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B	3/9/2017	-14.7	1.2	BLB	3
94756	Simple	185706283	T	.	Conflict	1	3	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B	10/31/2016	-11.7	1.333333333	BLB	3
94809	Simple	72466570	G	.	Conflict	1	4	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B	7/12/2017	-15.3	2	BLB	3
94919	Simple	113066678	A	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided	9/13/2017	-15.6	1.5	BLB	3
94947	Simple	113153193	T	.	Conflict	1	4	Collagen VI-related myopathy;not specified;not provided	9/14/2017	-9.57	1	BLB	3
95026	Simple	61753381	T	.	Conflict	1	5	Rubinstein-Taybi syndrome;not specified;not provided	6/19/2017	-20.04	2.6	BLB	3
95056	Simple	199990883	T	.	Conflict	1	4	Rubinstein-Taybi syndrome;not specified;not provided	12/21/2015	-15.78	3	BLB	3
95100	Simple	141100113	T	.	Conflict	1	4	Wilms tumor 1;not specified;not provided	7/12/2017	-12.21	1.25	BLB	3
95107	Simple	117178114	A	.	Conflict	1	5	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/29/2017	-15.51	1.2	BLB	3
95110	Simple	182847302	T	.	Conflict	1	4	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/17/2017	-13.5	1.25	BLB	3
95111	Simple	199791504	T	.	Conflict	1	4	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	8/14/2017	-9.3	0.5	BLB	3
95141	Simple	75639119	T	.	Conflict	1	4	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	3/23/2017	-17.1	1.25	BLB	3
95171	Simple	1046166	T	.	Conflict	1	7	"Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome"	8/2/2017	-21.3	1.714285714	BLB	3
95173	Simple	398124184	G	.	Conflict	1	6	"Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Muscular dystrophy;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome"	4/28/2017	-15.81	1.166666667	BLB	3
95180	Simple	137983973	C	.	Conflict	1	3	Congenital disorder of glycosylation type 1F;Congenital disorder of glycosylation;not specified	5/15/2017	-9.18	2	BLB	3
95187	Simple	56268439	T	.	Conflict	1	6	Severe neonatal-onset encephalopathy with microcephaly;Rett syndrome;not specified;not provided	8/1/2017	-25.8	2	B	3
95218	Simple	56342240	C	.	Conflict	1	5	"Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7"	8/11/2017	-9	1	BLB	3
95225	Simple	114019779	A	.	Conflict	1	5	"Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive"	8/1/2017	-18	2	BLB	3
95229	Simple	150236371	T	.	Conflict	1	3	"Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7"	8/14/2017	-9	1	BLB	3
95265	Simple	398124201	AGCAGC	.	Conflict	1	4	"Rett syndrome, congenital variant;not specified;not provided"	5/25/2017	-8.58	2.25	BLB	3
95283	Simple	200303699	T	.	Conflict	1	3	Brugada syndrome 8;not specified	4/21/2017	-9.21	1.666666667	BLB	3
95299	Simple	116315896	T	.	Conflict	1	2	"Glycogen storage disease, type V;not specified;not provided"	10/31/2017	-9.6	3	BLB	3
95322	Simple	55814513	A	.	Conflict	1	7	"not specified;not provided;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant"	6/30/2017	-23.01	2.571428571	BLB	3
95358	Simple	142032474	T	.	Conflict	1	6	Congenital disorder of glycosylation type 2B;Congenital disorder of glycosylation;not specified;not provided	8/7/2017	-24.3	1.5	B	3
95388	Simple	36023150	T	.	Conflict	1	3	"Congenital dyserythropoietic anemia, type II;not specified;Cowden syndrome 7;Congenital dyserythropoietic anemia"	5/11/2017	-13.8	1.333333333	BLB	3
95392	Simple	114156788	C	.	Conflict	1	3	not specified;not provided	10/11/2016	-8.58	2.666666667	BLB	3
95393	Simple	149903512	T	.	Conflict	1	3	not specified;not provided	10/11/2016	-11.58	2.666666667	BLB	3
95417	Simple	78388808	A	.	Conflict	1	7	"GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome"	7/3/2017	-19.74	1.571428571	BLB	3
95421	Simple	145061343	G	.	Conflict	1	3	not specified;not provided;Spastic paraplegia	3/7/2017	-8.64	1.666666667	BLB	3
95458	Simple	139687326	T	.	Conflict	1	5	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive"	8/25/2017	-15.9	1.4	BLB	3
95459	Simple	117985576	A	.	Conflict	1	6	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;not provided;Walker-Warburg congenital muscular dystrophy"	9/19/2017	-9.57	0.833333333	BLB	3
95462	Simple	76092524	A	.	Conflict	1	4	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive"	6/28/2017	-15.3	0.75	BLB	3
95476	Simple	3739203	A	.	Conflict	1	6	Early infantile epileptic encephalopathy 12;not specified;Epileptic encephalopathy	8/4/2017	-21.9	2.166666667	BLB	3
95480	Simple	116192442	A	.	Conflict	1	4	Early infantile epileptic encephalopathy 12;not specified	6/30/2017	-13.47	1.75	BLB	3
95481	Simple	142199280	T	.	Conflict	1	4	Early infantile epileptic encephalopathy 10;Early infantile epileptic encephalopathy 12;not specified	7/27/2017	-12.54	2.5	BLB	3
95484	Simple	145904995	T	.	Conflict	1	5	Early infantile epileptic encephalopathy 12;not specified;Epileptic encephalopathy	7/21/2017	-18.6	1.8	BLB	3
95489	Simple	148491228	T	.	Conflict	1	5	Early infantile epileptic encephalopathy 12;not specified;Epileptic encephalopathy	8/3/2017	-9.87	2.2	BLB	3
95506	Simple	398124255	AA	.	Conflict	1	2	not specified;not provided;Short Rib Polydactyly Syndrome	6/14/2016	-8.4	1.5	BLB	3
95522	Simple	75279884	G	.	Conflict	1	3	"Cutis laxa, recessive;not specified"	7/12/2016	-9.9	2.333333333	BLB	3
95528	Simple	116660078	C	.	Conflict	1	3	Congenital disorder of glycosylation;not specified	6/14/2016	-9.9	2.333333333	BLB	3
95565	Simple	148104020	A	.	Conflict	1	4	Cortical dysplasia-focal epilepsy syndrome;not specified	7/28/2017	-14.04	3	BLB	3
95571	Simple	142426153	TTCTTTCT	.	Conflict	1	5	Cortical dysplasia-focal epilepsy syndrome;not specified;not provided	4/28/2017	-19.41	3	BLB	3
95577	Simple	142984073	T	.	Conflict	1	6	Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome	8/4/2017	-18.3	1.833333333	BLB	3
95582	Simple	62653020	A	.	Conflict	1	5	"Leber congenital amaurosis 4;Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive"	6/4/2017	-12.9	0.8	BLB	3
95583	Simple	62637017	G	.	Conflict	1	4	"Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive"	6/14/2016	-9.21	1.75	BLB	3
95600	Simple	41312220	G	.	Conflict	1	3	Nephronophthisis;not specified	6/7/2017	-10.5	1.666666667	BLB	3
95644	Simple	148171062	T	.	Conflict	1	5	Congenital disorder of glycosylation type 1M;Congenital disorder of glycosylation;not specified	10/10/2017	-18.3	1.6	BLB	3
95654	Simple	80090788	A	.	Conflict	1	4	"Seckel syndrome;not specified;Primary Microcephaly, Recessive"	6/14/2016	-10.2	2	BLB	3
95681	Simple	41280800	G	.	Conflict	1	4	Renal dysplasia and retinal aplasia;Nephronophthisis;not specified	7/14/2017	-10.2	1.75	BLB	3
95685	Simple	115526767	A	.	Conflict	1	4	Renal dysplasia and retinal aplasia;Nephronophthisis;not specified	7/11/2017	-10.8	1.5	BLB	3
95688	Simple	28390202	T	.	Conflict	1	3	Early infantile epileptic encephalopathy 12;not specified	7/3/2017	-8.91	2	BLB	3
95691	Simple	144313291	C	.	Conflict	1	7	Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified	5/29/2017	-21.9	1.571428571	BLB	3
95696	Simple	113455884	T	.	Conflict	1	5	Congenital disorder of glycosylation type 2J;Congenital disorder of glycosylation;not specified;not provided	7/30/2017	-13.5	1.2	BLB	3
95759	Simple	150576537	T	.	Conflict	1	7	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive"	7/19/2017	-19.8	1.285714286	BLB	3
95778	Simple	16926453	C	.	Conflict	1	5	CHARGE association;Hypogonadism with anosmia;not specified	7/28/2017	-16.38	2.2	BLB	3
95805	Simple	113483301	T	.	Conflict	1	5	CHARGE association;Hypogonadism with anosmia;not specified	7/3/2017	-16.98	2	BLB	3
95826	Simple	142476821	A	.	Conflict	1	6	Cohen syndrome;not specified	7/17/2017	-17.1	1.166666667	BLB	3
95845	Simple	61759485	G	.	Conflict	1	5	Cohen syndrome;not specified;not provided	9/15/2017	-18.9	1.4	BLB	3
95874	Simple	113671330	G	.	Conflict	1	4	Cohen syndrome;not specified	10/26/2016	-14.04	2	BLB	3
95886	Simple	73740379	T	.	Conflict	1	5	Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified;not provided	7/11/2017	-19.5	1.4	BLB	3
95889	Simple	41299623	A	.	Conflict	1	4	"not specified;Primary Microcephaly, Recessive"	7/3/2017	-11.1	2.5	BLB	3
95899	Simple	114314967	A	.	Conflict	1	5	"Mental retardation, autosomal dominant 1;not specified;Intellectual Disability, Dominant"	7/21/2017	-16.5	1.4	BLB	3
95901	Simple	116207524	A	.	Conflict	1	5	"Mental retardation, autosomal dominant 1;not specified;Intellectual Disability, Dominant"	10/12/2017	-12.9	1.2	BLB	3
95920	Simple	117208167	C	.	Conflict	1	3	not specified;not provided	1/9/2017	-8.61	2.333333333	BLB	3
95954	Simple	398124358	C	.	Conflict	1	4	not specified;Hypertrophic cardiomyopathy	6/13/2017	-8.91	1.5	BLB	3
96049	Simple	145987330	C	.	Conflict	1	6	Beckwith-Wiedemann syndrome;Weaver syndrome;Sotos syndrome 1;not specified;Sotos Syndrome	6/22/2017	-21.78	2.166666667	BLB	3
96086	Simple	115800498	A	.	Conflict	1	5	Marinesco-Sj??gren syndrome;not specified;not provided	9/29/2017	-16.2	1.4	BLB	3
96093	Simple	61995925	T	.	Conflict	1	4	Congenital disorder of glycosylation type 1H;Congenital disorder of glycosylation;not specified	6/23/2017	-12.6	2	BLB	3
96108	Simple	143793528	G	.	Conflict	1	7	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;not specified;Walker-Warburg congenital muscular dystrophy"	8/2/2017	-32.07	1.857142857	B	3
96129	Simple	146586991	A	.	Conflict	1	4	"Primary autosomal recessive microcephaly 1;not specified;Primary Microcephaly, Recessive"	6/14/2016	-8.61	2.25	BLB	3
96141	Simple	146125583	T	.	Conflict	1	4	Chromosome 9q deletion syndrome;not specified	8/1/2017	-13.44	2	BLB	3
96172	Simple	183655276	G	.	Conflict	1	10	Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified;not provided	6/21/2017	-13.74	1.1	BLB	3
96187	Simple	149716029	-	.	Conflict	1	5	not specified;not provided	9/1/2017	-14.31	2.8	BLB	3
96225	Simple	112926217	T	.	Conflict	1	3	Nephronophthisis;not specified	11/24/2016	-10.5	2	BLB	3
96238	Simple	62562374	G	.	Conflict	1	4	"Congenital disorder of glycosylation type 1I;Congenital disorder of glycosylation;not specified;Myasthenic syndrome, congenital, 14"	4/20/2017	-9.48	1.5	BLB	3
96250	Simple	398124435	A	.	Conflict	1	3	"Multiple endocrine neoplasia, type 1;Hereditary cancer-predisposing syndrome"	6/23/2017	11.1	1	PLP	3
96256	Simple	149506027	A	.	Conflict	1	4	Angelman syndrome;not specified	5/23/2017	-18.9	1.75	BLB	3
96260	Simple	79328837	G	.	Conflict	1	4	Angelman syndrome;not specified	7/28/2017	-23.4	0.75	BLB	3
96263	Simple	61734190	G	.	Conflict	1	4	Angelman syndrome;not specified	7/31/2017	-21	2	BLB	3
96264	Simple	28528079	A	.	Conflict	1	4	Angelman syndrome;not specified	7/31/2017	-21	2	BLB	3
96274	Simple	71393436	.	.	Conflict	1	8	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/8/2017	-13.2	1	BLB	3
96275	Simple	143368674	G	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/27/2017	-26.1	1.5	B	3
96276	Simple	72648997	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	5/8/2017	-10.77	1.75	BLB	3
96288	Simple	72677221	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/2/2017	-14.34	2	BLB	3
96291	Simple	201717871	T	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/9/2017	-10.68	1.5	BLB	3
96296	Simple	181717727	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/7/2017	-21.3	1.2	BLB	3
96299	Simple	372382315	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	7/3/2017	-10.44	2.25	BLB	3
96301	Simple	56071233	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	4/20/2017	-26.4	1.727272727	B	3
96312	Simple	201770959	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/31/2017	-18.9	1.818181818	BLB	3
96314	Simple	72648237	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/21/2017	-13.62	1.636363636	BLB	3
96317	Simple	183620684	A	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype"	8/6/2016	-8.91	2.333333333	BLB	3
96320	Simple	376810671	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/27/2017	-12.57	1.4	BLB	3
96363	Simple	150248483	A	.	Conflict	1	4	"Epilepsy, X-linked, with variable learning disabilities and behavior disorders;not specified;not provided"	7/21/2017	-10.74	2	BLB	3
96453	Simple	190910161	T	.	Conflict	1	5	"Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified;not provided"	8/2/2017	-23.4	2.8	BLB	3
96470	Simple	150752548	A	.	Conflict	1	3	Multiple fibrofolliculomas;not specified;Hereditary cancer-predisposing syndrome	7/24/2017	-8.88	2.333333333	BLB	3
96505	Simple	141743294	T	.	Conflict	1	4	Progressive myoclonus epilepsy with ataxia;not specified;not provided	6/2/2017	-15.81	2.5	BLB	3
96507	Simple	35854729	C	.	Conflict	1	4	Progressive myoclonus epilepsy with ataxia;not specified	7/27/2017	-14.1	2.5	BLB	3
96542	Simple	398124554	-	.	Conflict	1	3	Brody myopathy;not provided	6/14/2016	9.9	2	PLP	3
96543	Simple	398124555	TT	.	Conflict	1	3	Brody myopathy;not provided	6/14/2016	9.9	2	PLP	3
96544	Simple	113803159	G	.	Conflict	1	3	Brody myopathy;not specified	8/2/2017	-9.18	1.666666667	BLB	3
96674	Simple	398124622	GGAGCCGGAGCC	.	Conflict	1	6	Pontoneocerebellar hypoplasia;not specified	6/26/2017	-14.25	2.333333333	BLB	3
96677	Simple	78899595	T	.	Conflict	1	6	"Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	6/20/2017	-21.6	1.666666667	BLB	3
96766	Simple	80358443	G	.	Conflict	1	7	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/7/2017	-14.94	1.285714286	BLB	3
96767	Simple	11571587	-	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/30/2017	-14.4	1	BLB	3
96817	Simple	35335654	G	.	Conflict	1	5	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/16/2017	-14.4	0.8	BLB	3
96853	Simple	80358982	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/27/2017	-12.24	1	BLB	3
96927	Simple	80358104	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	9/25/2017	-12.3	0.25	BLB	3
96929	Simple	80358034	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/24/2017	-15	0.6	BLB	3
96955	Simple	273902781	-	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/26/2017	-17.4	1	BLB	3
97162	Simple	72554348	C	.	Conflict	1	4	Ornithine carbamoyltransferase deficiency;not specified;not provided	8/15/2017	-20.4	1	BLB	3
97815	Simple	17555442	A	.	Conflict	1	4	Majeed syndrome;not specified	8/7/2017	-16.5	1.5	BLB	3
97990	Simple	180177462	T	.	Conflict	1	4	"Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold urticaria;not specified;Familial cold autoinflammatory syndrome"	6/14/2016	-9.27	1.25	BLB	3
98797	Simple	62638654	T	.	Conflict	1	2	Primary ciliary dyskinesia;not specified;not provided	6/30/2017	-11.4	1	BLB	3
99067	Simple	61751392	G	.	Conflict	1	3	Stargardt disease 1;Retinitis pigmentosa;not specified;not provided;Retinal dystrophy	10/31/2017	11.16	1.666666667	PLP	3
99101	Simple	61749417	T	.	Conflict	1	6	"not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	8/10/2017	-17.7	1	BLB	3
99153	Simple	61749440	A	.	Conflict	1	7	"Stargardt disease 1;not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	9/14/2016	-9.9	1.142857143	BLB	3
99246	Simple	61750129	T	.	Conflict	1	7	"not specified;not provided;Macular degeneration;Macular dystrophy;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	5/30/2017	-28.8	1.142857143	B	3
99260	Simple	61750135	G	.	Conflict	1	3	Stargardt disease 1;not specified;not provided;Retinal dystrophy	2/9/2017	11.13	1.666666667	PLP	3
99330	Simple	61751404	A	.	Conflict	1	3	Stargardt disease 1;Leber congenital amaurosis;not specified;not provided;Retinal dystrophy	6/16/2017	8.43	1.333333333	PLP	3
99441	Simple	61748519	A	.	Conflict	1	5	"Stargardt disease 1;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	6/14/2016	-12.27	1.2	BLB	3
99492	Simple	77293072	T	.	Conflict	1	7	"Stargardt disease 1;not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	6/14/2016	-20.67	2	BLB	3
99600	Simple	145805694	A	.	Conflict	1	3	"Leber congenital amaurosis;not provided;Cone-Rod Dystrophy, Dominant;Retinitis Pigmentosa, Dominant"	11/30/2016	-9	1	BLB	3
100602	Simple	137853918	G	.	Conflict	1	4	"Febrile seizures, familial, 4;not specified;not provided"	6/26/2017	-14.64	2.75	BLB	3
100605	Simple	137853921	G	.	Conflict	1	5	Bardet-Biedl syndrome;not specified;not provided;Cone/cone-rod dystrophy	8/7/2017	-9	1.2	BLB	3
100754	Simple	9983887	A	.	Conflict	1	2	Leukocyte adhesion deficiency type 1;Leukocyte adhesion deficiency	8/4/2017	-9	0.5	BLB	3
102871	Simple	62507324	G	.	Conflict	1	3	Phenylketonuria;not specified;not provided	7/14/2017	11.7	0.666666667	PLP	3
125464	Simple	273898672	A	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;not specified"	10/25/2016	-9.3	3	BLB	3
125523	Simple	273902789	GG	.	Conflict	1	2	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome"	9/8/2017	-9	0.5	BLB	3
125610	Simple	80358174	C	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified"	10/25/2017	-9	0.666666667	BLB	3
125666	Simple	80358101	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-19.8	1.25	BLB	3
125672	Simple	80358057	T	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/19/2017	-13.74	1.8	BLB	3
125685	Simple	80358104	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/4/2017	-13.8	1.5	BLB	3
125697	Simple	80358016	A	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified"	1/10/2017	-9	1	BLB	3
125709	Simple	80358180	C	.	Conflict	1	5	"Familial cancer of breast;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/3/2017	-23.7	1	BLB	3
125727	Simple	80358021	C	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/25/2017	-8.4	1.333333333	BLB	3
125761	Simple	80358059	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	9/17/2017	-17.4	1	BLB	3
125803	Simple	80358090	A	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome"	7/27/2017	-8.7	1	BLB	3
125824	Simple	80358148	G	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	9/7/2017	-9	0	BLB	3
125880	Simple	273902771	-	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/10/2017	-9	0.666666667	BLB	3
125887	Simple	398122353	-	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome"	5/19/2017	-11.7	0.666666667	BLB	3
125896	Simple	80358102	G	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	9/24/2017	-9	0.333333333	BLB	3
125926	Simple	276174803	GAATTATATCT	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	11/18/2016	-14.07	1.75	BLB	3
125991	Simple	11571574	G	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;not specified;Hereditary cancer-predisposing syndrome"	10/25/2017	-14.4	0.666666667	BLB	3
126118	Simple	276174849	TT	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/13/2017	-11.7	1	BLB	3
126125	Simple	276174887	-	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified"	7/3/2016	-8.97	1.5	BLB	3
126275	Simple	61743997	T	.	Conflict	1	5	Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified	8/11/2017	-11.7	1.2	BLB	3
126289	Simple	138897437	T	.	Conflict	1	4	Joubert syndrome;Meckel-Gruber syndrome;not specified	10/1/2016	-12.6	1	BLB	3
126395	Simple	145588689	C	.	Conflict	1	6	Symmetrical dyschromatosis of extremities;Aicardi Goutieres syndrome;Aicardi-goutieres syndrome 6;not provided	10/4/2017	11.1	0.666666667	PLP	3
126480	Simple	187864727	A	.	Conflict	1	9	"Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;Skeletal dysplasia;not specified;not provided;Neuromuscular Diseases;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia"	8/9/2017	-53.4	0.888888889	B	3
126580	Simple	202241382	C	.	Conflict	1	5	Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	7/19/2017	-15.3	0.4	BLB	3
126582	Simple	45494092	G	.	Conflict	1	11	Familial cancer of breast;Pancreatic cancer 3;not specified;Hereditary cancer-predisposing syndrome	8/17/2017	-48.87	1.727272727	B	3
126623	Simple	180177143	-	.	Conflict	1	6	Familial cancer of breast;Pancreatic cancer 3;not provided;Hereditary cancer-predisposing syndrome	7/11/2017	31.5	1	P	3
126653	Simple	140776736	T	.	Conflict	1	5	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	8/7/2017	-13.2	1.6	BLB	3
126661	Simple	373321719	C	.	Conflict	1	5	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-16.2	1.4	BLB	3
126683	Simple	45478192	C	.	Conflict	1	10	Familial cancer of breast;Fanconi anemia;Pancreatic cancer 3;not specified;Hereditary cancer-predisposing syndrome	8/14/2017	-26.07	1.1	B	3
126691	Simple	149522412	G	.	Conflict	1	6	Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	7/30/2017	-18.6	0.833333333	BLB	3
126708	Simple	183489969	G	.	Conflict	1	6	Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	7/28/2017	-12.87	0.833333333	BLB	3
126711	Simple	180177132	T	.	Conflict	1	9	"Familial cancer of breast;Breast cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome"	8/14/2017	47.1	1.444444444	P	3
126737	Simple	180177136	C	.	Conflict	1	5	"Familial cancer of breast;Fanconi anemia, complementation group N;not provided;Hereditary cancer-predisposing syndrome"	5/17/2017	20.4	0.6	P	3
126743	Simple	145598272	A	.	Conflict	1	6	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	8/28/2017	-12.57	0.5	BLB	3
126749	Simple	139555085	T	.	Conflict	1	7	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	8/4/2017	-23.37	1	BLB	3
126758	Simple	138789658	C	.	Conflict	1	10	Familial cancer of breast;Fanconi anemia;not specified;not provided;Hereditary cancer-predisposing syndrome	8/21/2017	-38.07	1.6	B	3
126761	Simple	57605939	A	.	Conflict	1	9	Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	8/21/2017	-38.37	1.777777778	B	3
126777	Simple	528541334	A	.	Conflict	1	5	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	9/7/2017	-9.84	0.8	BLB	3
127031	Simple	61749249	T	.	Conflict	1	6	Ataxia-telangiectasia-like disorder 1;not specified;not provided;Hereditary cancer-predisposing syndrome	7/27/2017	-14.58	1.833333333	BLB	3
127278	Simple	147863331	A	.	Conflict	1	6	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome	8/28/2017	-14.07	1.333333333	BLB	3
127294	Simple	146572883	A	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;Colorectal adenoma	7/27/2017	-10.8	1.5	BLB	3
127295	Simple	111866410	G	.	Conflict	1	6	Familial multiple polyposis syndrome;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;Colorectal adenoma;APC-Associated Polyposis Disorders	7/12/2017	-23.07	1.333333333	BLB	3
127325	Simple	369721828	A	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome	8/18/2017	-8.97	1	BLB	3
127332	Simple	56128736	C	.	Conflict	1	7	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	8/18/2017	-25.47	1.571428571	B	3
127347	Simple	34231402	A	.	Conflict	1	4	Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	8/9/2017	-9.6	0.25	BLB	3
127362	Simple	139552233	C	.	Conflict	1	4	Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	10/31/2017	-15.3	0.5	BLB	3
127366	Simple	146531614	G	.	Conflict	1	7	Familial cancer of breast;Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-9.81	1.142857143	BLB	3
127388	Simple	138327406	G	.	Conflict	1	8	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	8/4/2017	-22.41	1.75	BLB	3
127392	Simple	34640941	G	.	Conflict	1	4	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	9/28/2017	-9.3	0	BLB	3
127416	Simple	11212587	A	.	Conflict	1	4	Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/9/2017	-8.7	0.75	BLB	3
127430	Simple	56009889	T	.	Conflict	1	6	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	8/8/2017	-21.9	1.5	BLB	3
127443	Simple	55801750	C	.	Conflict	1	4	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	10/26/2017	-11.67	1	BLB	3
127475	Simple	201231857	G	.	Conflict	1	3	Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome	9/8/2017	-9.21	1.333333333	BLB	3
127480	Simple	12720097	A	.	Conflict	1	6	Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome	9/27/2017	-15.57	0.833333333	BLB	3
127501	Simple	1801256	A	.	Conflict	1	5	Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome	10/10/2017	-9.81	1.2	BLB	3
127526	Simple	6413463	T	.	Conflict	1	5	Melanoma-pancreatic cancer syndrome;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome	6/19/2017	-11.4	1.2	BLB	3
127537	Simple	138629441	T	.	Conflict	1	4	Fanconi anemia;not specified;not provided;Hereditary cancer-predisposing syndrome	10/9/2017	-9	0.5	BLB	3
127544	Simple	140781259	C	.	Conflict	1	4	Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	8/2/2017	-9.6	0.5	BLB	3
127588	Simple	182871847	A	.	Conflict	1	5	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	9/28/2017	-18	0.8	BLB	3
127613	Simple	202038499	C	.	Conflict	1	7	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	10/10/2017	-15.27	0.857142857	BLB	3
127660	Simple	538728843	T	.	Conflict	1	5	PTEN hamartoma tumor syndrome;not specified;Hereditary cancer-predisposing syndrome	12/15/2016	-12.21	1.8	BLB	3
127700	Simple	200078204	T	.	Conflict	1	9	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-21.27	0.777777778	BLB	3
127703	Simple	587780009	A	.	Conflict	1	4	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	7/9/2017	-9.3	0.75	BLB	3
127732	Simple	76744638	C	.	Conflict	1	6	Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome	9/6/2017	-20.7	0.5	BLB	3
127735	Simple	142155101	T	.	Conflict	1	6	Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Hereditary cancer	10/16/2017	-17.64	1.166666667	BLB	3
127805	Simple	201717599	A	.	Conflict	1	4	Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome	7/11/2017	-9.3	0.5	BLB	3
127821	Simple	144340710	C	.	Conflict	1	5	Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome;Rhabdomyosarcoma	10/26/2017	-9.54	1	BLB	3
127848	Simple	146480420	C	.	Conflict	1	5	Lynch syndrome;not specified;Hereditary nonpolyposis colon cancer	4/11/2017	-14.1	1.6	BLB	3
127851	Simple	115283528	G	.	Conflict	1	3	Lynch syndrome;not specified	11/24/2016	-8.4	2	BLB	3
127853	Simple	146605798	A	.	Conflict	1	4	"Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome"	7/13/2017	-11.7	1	BLB	3
127861	Simple	142334798	T	.	Conflict	1	7	"Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome"	8/7/2017	-15.3	0.714285714	BLB	3
127869	Simple	61753720	T	.	Conflict	1	6	"Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome"	8/7/2017	-19.44	1.5	BLB	3
127883	Simple	140317560	A	.	Conflict	1	6	"Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-12.57	0.5	BLB	3
127892	Simple	80116829	T	.	Conflict	1	6	"Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome"	9/14/2017	-12.84	0.833333333	BLB	3
127913	Simple	370864592	T	.	Conflict	1	6	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	11/7/2017	-17.97	0.833333333	BLB	3
127921	Simple	149127230	A	.	Conflict	1	6	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	9/7/2017	-15.27	0.5	BLB	3
127925	Simple	200894246	A	.	Conflict	1	6	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	7/26/2017	-10.17	0.666666667	BLB	3
127933	Simple	139866691	A	.	Conflict	1	9	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome;Orofacial clefting	8/8/2017	-28.77	1.222222222	B	3
127941	Simple	138287857	A	.	Conflict	1	3	Oligodontia-colorectal cancer syndrome;not specified	7/27/2017	-9.3	0.333333333	BLB	3
127950	Simple	200772603	A	.	Conflict	1	8	Myhre syndrome;Juvenile polyposis syndrome;Osler hemorrhagic telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis	11/8/2017	-10.5	0.5	BLB	3
127965	Simple	145085742	C	.	Conflict	1	3	not specified;Hereditary cancer-predisposing syndrome	11/28/2017	-9.3	0.333333333	BLB	3
127970	Simple	116679717	T	.	Conflict	1	6	Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome	7/24/2017	-17.4	1.333333333	BLB	3
128016	Simple	143189763	G	.	Conflict	1	3	not specified;Hereditary cancer-predisposing syndrome	7/27/2017	-9.27	0.666666667	BLB	3
128023	Simple	28903086	A	.	Conflict	1	4	Nijmegen breakage syndrome-like disorder;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-11.31	2	BLB	3
128026	Simple	28903088	A	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome	7/25/2017	-11.31	2	BLB	3
128060	Simple	142763740	A	.	Conflict	1	11	"Familial cancer of breast;Breast and colorectal cancer, susceptibility to;not specified;not provided;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal cancer"	9/18/2017	19.83	0.545454545	P	3
128064	Simple	200432447	A	.	Conflict	1	5	"Familial cancer of breast;Breast and colorectal cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome"	8/10/2017	14.73	0.4	PLP	3
128070	Simple	121908700	T	.	Conflict	1	5	Familial cancer of breast;not specified;not provided;Hereditary cancer-predisposing syndrome	7/31/2017	-9.9	0.6	BLB	3
128081	Simple	77130927	A	.	Conflict	1	8	Familial cancer of breast;Malignant tumor of prostate;not specified;Hereditary cancer-predisposing syndrome	7/30/2017	-15.9	0.875	BLB	3
128089	Simple	587780192	G	.	Conflict	1	4	Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome	10/19/2017	8.7	0	PLP	3
128130	Simple	377626805	A	.	Conflict	1	7	Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	7/25/2017	-9.9	0.571428571	BLB	3
128133	Simple	587778587	T	.	Conflict	1	5	Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	7/27/2017	-9.6	0.4	BLB	3
128206	Simple	587780256	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome"	10/5/2017	-9.3	0.833333333	BLB	3
128211	Simple	147241704	A	.	Conflict	1	7	"Familial cancer of breast;Fanconi anemia, complementation group O;not specified;not provided;Hereditary cancer-predisposing syndrome"	10/31/2017	-15.57	0.714285714	BLB	3
128276	Simple	2228415	T	.	Conflict	1	5	Adenylosuccinate lyase deficiency;not specified	7/28/2017	-20.7	1.8	BLB	3
128314	Simple	144245019	A	.	Conflict	1	3	"not specified;not provided;Myasthenic syndrome, congenital, 8"	7/21/2017	-9.21	1.666666667	BLB	3
128348	Simple	117295656	C	.	Conflict	1	5	Pyridoxine-dependent epilepsy;not specified	8/9/2017	-17.7	2	BLB	3
128389	Simple	61746201	G	.	Conflict	1	4	"Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy, type 2L;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	7/24/2017	-12.6	0.75	BLB	3
128419	Simple	1801695	T	.	Conflict	1	8	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/11/2017	-27.18	1.375	B	3
128421	Simple	12691202	T	.	Conflict	1	8	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/18/2017	-24.18	1.25	B	3
128423	Simple	533617	C	.	Conflict	1	7	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/17/2017	-25.44	1.571428571	B	3
128427	Simple	117131028	T	.	Conflict	1	3	not specified;Periventricular Heterotopia	10/3/2017	-8.7	1	BLB	3
128433	Simple	73113975	T	.	Conflict	1	3	not specified;not provided;Periventricular Heterotopia	1/26/2017	-9.3	1	BLB	3
128436	Simple	61748373	A	.	Conflict	1	3	not specified;Periventricular Heterotopia	6/14/2016	-9.9	2.333333333	BLB	3
128445	Simple	149172723	T	.	Conflict	1	5	not specified;Periventricular Heterotopia	7/6/2017	-13.14	2	BLB	3
128456	Simple	1800058	T	.	Conflict	1	8	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	8/29/2017	-37.5	1.625	B	3
128485	Simple	116711766	A	.	Conflict	1	6	Familial hemiplegic migraine;not specified;not provided	6/2/2017	-17.34	1.5	BLB	3
128532	Simple	145649423	G	.	Conflict	1	6	"Berardinelli-Seip congenital lipodystrophy;Charcot-Marie-Tooth disease, type 2;Neurologic Disorders/Seipinopathy;not specified;not provided"	8/14/2017	-20.4	0.833333333	BLB	3
128753	Simple	76001008	T	.	Conflict	1	3	"not specified;Myasthenic syndrome, congenital, 2a, slow-channel;Congenital Myasthenic Syndrome, Dominant/Recessive"	8/1/2017	-12.3	0.666666667	BLB	3
128764	Simple	139171143	G	.	Conflict	1	4	"Myasthenic syndrome, congenital, 4a, slow-channel;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive"	7/27/2017	-14.1	1.25	BLB	3
128775	Simple	146610181	T	.	Conflict	1	4	"Neuronal ceroid lipofuscinosis;not specified;not provided;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive"	8/1/2017	-13.2	1.75	BLB	3
128805	Simple	141078449	T	.	Conflict	1	6	Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome	4/15/2017	-10.17	2	BLB	3
128813	Simple	150686304	A	.	Conflict	1	6	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;Collagen VI-related myopathy;not specified;not provided	5/30/2017	-9.48	1.5	BLB	3
128816	Simple	34741387	A	.	Conflict	1	3	Bethlem myopathy 1;not specified;not provided	8/1/2017	-9.21	1.333333333	BLB	3
128819	Simple	146092501	T	.	Conflict	1	6	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided	8/2/2017	-22.77	1.5	BLB	3
128870	Simple	149019571	T	.	Conflict	1	3	"Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive"	6/20/2017	-10.5	1.666666667	BLB	3
128918	Simple	35334863	A	.	Conflict	1	3	Congenital disorder of glycosylation;not specified;Congenital disorder of glycosylation type 1u	2/7/2017	-12.3	1	BLB	3
128945	Simple	75796187	C	.	Conflict	1	4	"Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	7/11/2017	-12.6	0.75	BLB	3
128964	Simple	369503191	C	.	Conflict	1	5	Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified;not provided	6/7/2017	-14.01	2	BLB	3
129003	Simple	187930476	T	.	Conflict	1	4	Lafora disease;Progressive myoclonic epilepsy;not specified	8/14/2017	-19.8	2.5	BLB	3
129006	Simple	145030227	T	.	Conflict	1	4	Progressive myoclonic epilepsy;not specified	8/1/2017	-12.54	2.75	BLB	3
129057	Simple	148206382	A	.	Conflict	1	5	not specified;not provided;Walker-Warburg congenital muscular dystrophy	8/4/2017	-15.6	1.4	BLB	3
129059	Simple	200278701	T	.	Conflict	1	5	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;not provided"	5/22/2017	-17.91	1.4	BLB	3
129060	Simple	202029322	A	.	Conflict	1	4	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;not provided"	11/2/2017	-12.18	1.5	BLB	3
129062	Simple	370868704	T	.	Conflict	1	4	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;not provided"	3/7/2017	-11.31	2	BLB	3
129066	Simple	199565118	T	.	Conflict	1	4	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;not provided"	3/25/2017	-11.88	2	BLB	3
129112	Simple	148346044	C	.	Conflict	1	4	Mitochondrial complex I deficiency;not specified	9/5/2016	-10.2	2	BLB	3
129121	Simple	2289536	A	.	Conflict	1	5	"Glycogen storage disease, type II;not specified"	8/7/2017	-23.7	1	BLB	3
129152	Simple	2230300	G	.	Conflict	1	3	"Congenital myasthenic syndrome 12;not specified;Congenital Myasthenic Syndrome, Recessive"	8/4/2017	-12.3	0.666666667	BLB	3
129186	Simple	372083517	A	.	Conflict	1	4	"Epilepsy, focal, with speech disorder and with or without mental retardation;not specified;not provided"	8/1/2017	-9.48	1.75	BLB	3
129242	Simple	11551349	C	.	Conflict	1	4	"not specified;not provided;Spastic paraplegia;Spastic Paraplegia, Dominant"	8/10/2017	-14.04	1.75	BLB	3
129271	Simple	10870182	G	.	Conflict	1	5	Joubert syndrome;not specified	2/15/2017	-21.3	2	BLB	3
129282	Simple	371450118	T	.	Conflict	1	3	"Mental retardation, X-linked 1;not specified;not provided"	6/14/2017	-12.21	1.666666667	BLB	3
129285	Simple	141625803	G	.	Conflict	1	4	"not specified;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7;Congenital Muscular Dystrophy, alpha-dystroglycan related"	5/24/2017	-14.7	0.75	BLB	3
129293	Simple	17854601	A	.	Conflict	1	3	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	7/31/2017	-11.7	1	BLB	3
129294	Simple	17117883	C	.	Conflict	1	3	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	8/7/2017	-11.7	1	BLB	3
129295	Simple	17117879	G	.	Conflict	1	3	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	7/24/2017	-12.3	0.666666667	BLB	3
129297	Simple	148170949	A	.	Conflict	1	5	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	6/12/2017	-15.6	2	BLB	3
129326	Simple	45527834	A	.	Conflict	1	4	Generalized epilepsy and paroxysmal dyskinesia;not specified	7/11/2017	-12.6	2.25	BLB	3
129332	Simple	146492238	T	.	Conflict	1	5	not specified;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy	7/13/2017	-11.4	1.2	BLB	3
129343	Simple	587780369	A	.	Conflict	1	4	Early infantile epileptic encephalopathy 7;not specified;Early infantile epileptic encephalopathy	7/18/2016	-10.8	2	BLB	3
129397	Simple	190997558	T	.	Conflict	1	3	"Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;not provided"	3/9/2017	-9.24	1.333333333	BLB	3
129435	Simple	35879899	G	.	Conflict	1	3	"Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related"	8/10/2017	-12.3	0.666666667	BLB	3
129437	Simple	35065563	G	.	Conflict	1	4	"Laminin alpha 2-related dystrophy;not specified;not provided;Congenital Muscular Dystrophy, LAMA2-related"	7/10/2017	-12.3	0.5	BLB	3
129447	Simple	61749497	T	.	Conflict	1	3	"Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related"	6/28/2017	-12.3	0.666666667	BLB	3
129529	Simple	116456291	T	.	Conflict	1	3	Donnai Barrow syndrome;not specified;not provided	2/27/2017	-9.3	1	BLB	3
129610	Simple	115275192	C	.	Conflict	1	4	"Ceroid lipofuscinosis neuronal 7;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive"	7/6/2017	-14.1	2.5	BLB	3
129611	Simple	145529594	A	.	Conflict	1	4	"Ceroid lipofuscinosis neuronal 7;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive"	6/2/2017	-15.3	2	BLB	3
129631	Simple	143701488	T	.	Conflict	1	3	"Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive"	10/26/2016	-8.7	1.666666667	BLB	3
129713	Simple	145252235	T	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/19/2017	-11.7	1	BLB	3
129716	Simple	115631125	A	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/21/2017	-10.5	1.666666667	BLB	3
129718	Simple	16830216	A	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/25/2017	-12.3	0.666666667	BLB	3
129723	Simple	34555492	A	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	8/4/2017	-11.7	1	BLB	3
129724	Simple	62167164	C	.	Conflict	1	5	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	6/16/2017	-21.3	0.6	BLB	3
129725	Simple	16830170	A	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/26/2017	-12.3	0.666666667	BLB	3
129726	Simple	34718443	A	.	Conflict	1	6	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	9/19/2017	-24.3	1.333333333	B	3
129748	Simple	35686968	G	.	Conflict	1	3	Nemaline myopathy 2;not specified;not provided	8/8/2017	-12.21	1.666666667	BLB	3
129820	Simple	116236999	A	.	Conflict	1	3	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	7/27/2017	-9.9	2	BLB	3
129885	Simple	142645936	G	.	Conflict	1	4	Zellweger syndrome;not specified;not provided	11/15/2016	-11.7	1.5	BLB	3
129900	Simple	45466294	C	.	Conflict	1	3	"Early infantile epileptic encephalopathy 12;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive"	5/16/2017	-11.7	1	BLB	3
129902	Simple	45608240	G	.	Conflict	1	4	"Early infantile epileptic encephalopathy 12;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive"	7/28/2017	-9.27	1.25	BLB	3
129904	Simple	61755434	G	.	Conflict	1	4	"Early infantile epileptic encephalopathy 12;not specified;not provided;Early Infantile Epileptic Encephalopathy, Autosomal Recessive"	6/29/2017	-12	0.75	BLB	3
129909	Simple	45464693	A	.	Conflict	1	4	"Early infantile epileptic encephalopathy 12;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive"	8/11/2017	-14.4	1.5	BLB	3
129976	Simple	62031146	A	.	Conflict	1	4	Carbohydrate-deficient glycoprotein syndrome type I;Congenital disorder of glycosylation;not specified	5/25/2017	-17.1	1.25	BLB	3
129997	Simple	62640037	G	.	Conflict	1	3	Progressive sclerosing poliodystrophy;not specified;POLG-Related Spectrum Disorders	6/14/2017	-10.5	1.666666667	BLB	3
129998	Simple	115048121	C	.	Conflict	1	3	Progressive sclerosing poliodystrophy;Fanconi anemia;not specified	6/14/2017	-9.9	2	BLB	3
130005	Simple	35242383	T	.	Conflict	1	4	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive"	8/2/2017	-17.1	1	BLB	3
130009	Simple	140258585	A	.	Conflict	1	3	"not specified;Limb-Girdle Muscular Dystrophy, Recessive"	6/14/2016	-10.5	2	BLB	3
130013	Simple	149554732	A	.	Conflict	1	4	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive"	7/24/2017	-17.1	1.25	BLB	3
130039	Simple	140383655	A	.	Conflict	1	4	Dystonia 10;not specified;not provided	6/14/2017	-9.21	1.25	BLB	3
130068	Simple	61748693	T	.	Conflict	1	3	not specified;Warburg micro syndrome	6/14/2016	-11.1	1.666666667	BLB	3
130094	Simple	73496064	A	.	Conflict	1	3	Pontoneocerebellar hypoplasia;not specified	4/24/2017	-11.1	1.333333333	BLB	3
130125	Simple	2229860	C	.	Conflict	1	5	"Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7"	6/3/2017	-23.4	0.8	BLB	3
130126	Simple	115913736	A	.	Conflict	1	6	"Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7"	9/11/2017	-19.5	1.166666667	BLB	3
130129	Simple	2711866	C	.	Conflict	1	3	"Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive"	7/27/2017	-12.3	0.666666667	BLB	3
130133	Simple	116716038	T	.	Conflict	1	5	"Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive"	7/27/2017	-18.3	0.6	BLB	3
130211	Simple	139815570	A	.	Conflict	1	5	"Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;not provided;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	6/8/2017	-15.81	2.2	BLB	3
130214	Simple	147522594	C	.	Conflict	1	6	"Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	7/12/2017	-15.24	1	BLB	3
130252	Simple	587780455	G	.	Conflict	1	5	"not specified;Early infantile epileptic encephalopathy 13;not provided;Focal epilepsy;Early infantile epileptic encephalopathy;Seizures, benign familial infantile, 5"	7/31/2017	14.52	1.6	PLP	3
130260	Simple	199692186	C	.	Conflict	1	10	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	8/4/2017	-24.51	1.2	B	3
130265	Simple	141268327	C	.	Conflict	1	13	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	8/4/2017	-43.2	1.230769231	B	3
130284	Simple	35019869	G	.	Conflict	1	3	Eichsfeld type congenital muscular dystrophy;not specified;SEPN1-Related Disorders	7/31/2017	-11.7	1	BLB	3
130301	Simple	80227512	A	.	Conflict	1	5	"Charcot-Marie-Tooth disease, type IV;not specified;not provided;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve"	8/10/2017	-11.64	1.6	BLB	3
130365	Simple	76389165	C	.	Conflict	1	3	"Spastic paraplegia 11, autosomal recessive;Hereditary spastic paraplegia;not specified;not provided"	7/17/2017	-9.3	0	BLB	3
130535	Simple	184639841	T	.	Conflict	1	7	"Epileptic encephalopathy, early infantile, 1;Myoclonic epilepsy, familial infantile;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24"	7/19/2017	-25.2	2.285714286	B	3
130607	Simple	117942457	A	.	Conflict	1	3	"Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive"	7/31/2017	-9.9	2	BLB	3
130609	Simple	140726254	A	.	Conflict	1	4	"Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis;not specified;not provided;Neuronal Ceroid-Lipofuscinosis, Recessive"	7/24/2017	-10.71	2.25	BLB	3
130664	Simple	72648994	C	.	Conflict	1	6	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	7/5/2017	-19.62	2.5	BLB	3
130683	Simple	114026724	G	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/31/2017	-19.41	3	BLB	3
130688	Simple	141258018	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	11/26/2016	-11.22	1.6	BLB	3
130689	Simple	528502993	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype"	6/13/2017	-9.6	2.25	BLB	3
130690	Simple	148525155	G	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	7/11/2017	-17.22	2.4	BLB	3
130706	Simple	79720897	T	.	Conflict	1	4	not specified;Cerebellar hypoplasia	6/14/2016	-14.7	2.5	BLB	3
130716	Simple	116746734	A	.	Conflict	1	4	Cohen syndrome;not specified	8/7/2017	-17.7	1	BLB	3
130717	Simple	138127778	T	.	Conflict	1	5	Cohen syndrome;not specified;not provided	7/31/2017	-16.2	1.6	BLB	3
130748	Simple	35932623	T	.	Conflict	1	7	"not specified;not provided;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant;Monogenic diabetes"	1/31/2017	-18.87	1.857142857	BLB	3
130846	Simple	182004761	A	.	Conflict	1	4	Non-syndromic X-linked intellectual disability;not specified;not provided	6/14/2016	-11.61	2	BLB	3
132679	Simple	142511345	A	.	Conflict	1	5	Long QT syndrome;Romano-Ward syndrome;not specified;Congenital long QT syndrome;Jervell and Lange-Nielsen syndrome	6/14/2016	-11.34	2	BLB	3
132694	Simple	200074800	A	.	Conflict	1	4	"Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome"	10/26/2017	-9.3	0.25	BLB	3
132703	Simple	3219488	A	.	Conflict	1	5	MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome	8/2/2017	-13.44	1.6	BLB	3
132709	Simple	587780537	A	.	Conflict	1	6	Hereditary diffuse gastric cancer;not specified;not provided;Hereditary cancer-predisposing syndrome	8/11/2017	17.4	0.5	P	3
132723	Simple	147067171	C	.	Conflict	1	3	Gorlin syndrome;Hereditary cancer-predisposing syndrome;Rieger anomaly;Peters anomaly;Rieger anomaly	8/9/2017	-10.2	2	BLB	3
132727	Simple	369579749	A	.	Conflict	1	4	"Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome"	10/14/2016	-8.7	1.5	BLB	3
132736	Simple	1800056	C	.	Conflict	1	8	Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/18/2017	-39	2	B	3
132737	Simple	200151646	G	.	Conflict	1	6	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	8/10/2017	-15	1	BLB	3
132749	Simple	377278397	C	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	8/7/2017	-12.3	0.75	BLB	3
132757	Simple	3218690	C	.	Conflict	1	5	Ataxia-telangiectasia syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/7/2017	-21	1.8	BLB	3
132782	Simple	276174816	-	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/22/2017	-25.8	1	B	3
132941	Simple	483352833	A	.	Conflict	1	2	Familial hypertrophic cardiomyopathy 2;Left ventricular noncompaction 6;Familial restrictive cardiomyopathy 3;Dilated cardiomyopathy 1DD;not specified	6/26/2016	-11.4	1.5	BLB	3
133010	Simple	3745845	T	.	Conflict	1	5	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided"	6/14/2016	-12.18	1.8	BLB	3
133012	Simple	193922839	A	.	Conflict	1	3	Scoliosis;Proximal muscle weakness;not provided;Delayed gross motor development;Pelvic girdle muscle weakness;Progressive distal muscle weakness	8/5/2016	8.46	2	PLP	3
133076	Simple	147723844	G	.	Conflict	1	9	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;Malignant hyperthermia;RYR1-Related Disorders"	7/25/2017	-13.23	1.888888889	BLB	3
133111	Simple	146104858	A	.	Conflict	1	8	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders"	6/20/2017	-24.27	0.875	B	3
133122	Simple	180714609	A	.	Conflict	1	6	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided"	9/7/2017	-12.6	0.833333333	BLB	3
133173	Simple	34390345	G	.	Conflict	1	7	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders"	6/13/2017	-14.7	1.285714286	BLB	3
133306	Simple	149704197	-	.	Conflict	1	4	"Galactosylceramide beta-galactosidase deficiency;Combined saposin deficiency;Metachromatic leukodystrophy;Usher syndrome, type 1D;Atypical Gaucher Disease"	6/14/2016	-24	1	B	3
133509	Simple	138933660	C	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome	7/11/2017	-9.54	1.25	BLB	3
133510	Simple	141519952	G	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;Colorectal adenoma	7/25/2017	-14.1	1	BLB	3
133513	Simple	554356011	G	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome	9/13/2017	-12.27	0.5	BLB	3
133522	Simple	141010008	T	.	Conflict	1	3	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome	10/4/2017	-8.7	0.666666667	BLB	3
133530	Simple	139387758	A	.	Conflict	1	5	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;Colorectal adenoma;APC-Associated Polyposis Disorders	8/15/2017	-21	1.8	BLB	3
133667	Simple	372586694	T	.	Conflict	1	4	Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome	6/9/2017	-12.3	0.75	BLB	3
133717	Simple	35619497	T	.	Conflict	1	6	Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis	7/31/2017	-14.7	0.833333333	BLB	3
133738	Simple	169547	C	.	Conflict	1	3	not specified;Ductal breast carcinoma	8/8/2016	-16.8	1.666666667	BLB	3
133882	Simple	4987127	T	.	Conflict	1	5	Melanoma-pancreatic cancer syndrome;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome	5/22/2017	-12	0.8	BLB	3
133965	Simple	114947750	A	.	Conflict	1	3	Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome	8/15/2017	-9.3	0.333333333	BLB	3
133971	Simple	544960260	-	.	Conflict	1	3	Pleuropulmonary blastoma;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;not specified;Hereditary cancer-predisposing syndrome	8/4/2017	-9.3	0.333333333	BLB	3
133978	Simple	144250390	A	.	Conflict	1	4	DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Peripheral neuropathy	6/22/2017	-8.85	2.5	BLB	3
134248	Simple	34592408	C	.	Conflict	1	3	Fanconi anemia;not specified	6/16/2017	-9	1	BLB	3
134256	Simple	17233141	C	.	Conflict	1	5	"Fanconi anemia;Fanconi anemia, complementation group A;not specified;not provided"	8/7/2017	-17.4	1	BLB	3
134264	Simple	17233497	A	.	Conflict	1	3	Fanconi anemia;Malignant tumor of prostate;not specified	1/25/2017	-15	1	BLB	3
134282	Simple	17227403	C	.	Conflict	1	3	Fanconi anemia;not specified	7/25/2017	-9.27	1	BLB	3
134305	Simple	1800365	A	.	Conflict	1	9	Fanconi anemia;not specified;not provided;Hereditary cancer-predisposing syndrome	9/20/2017	-32.67	1.666666667	B	3
134319	Simple	36084488	C	.	Conflict	1	3	Fanconi anemia;not specified;not provided	7/26/2017	-12.3	0.666666667	BLB	3
134324	Simple	147675860	T	.	Conflict	1	3	Fanconi anemia;not specified;not provided	8/2/2017	-9.3	0.333333333	BLB	3
134349	Simple	113910234	A	.	Conflict	1	4	Fanconi anemia;not specified	7/31/2017	-15	1	BLB	3
134573	Simple	3213409	T	.	Conflict	1	3	"Lymphoblastic leukemia, acute, with lymphomatous features;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;Acute megakaryoblastic leukemia;not specified"	7/27/2017	-12	0.333333333	BLB	3
134580	Simple	3212723	T	.	Conflict	1	3	"Lymphoblastic leukemia, acute, with lymphomatous features;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;Acute megakaryoblastic leukemia;not specified;Severe Combined Immune Deficiency"	7/11/2017	-12.6	2	BLB	3
134711	Simple	112170602	C	.	Conflict	1	6	Kabuki syndrome 1;not specified;not provided;Kabuki syndrome	10/28/2017	-16.98	1.5	BLB	3
134730	Simple	3782356	T	.	Conflict	1	3	Kabuki syndrome 1;not specified;not provided;Kabuki syndrome	8/2/2017	-9.18	2	BLB	3
134874	Simple	72563785	C	.	Conflict	1	8	"Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome"	8/15/2017	-34.2	2	B	3
134919	Simple	35136134	T	.	Conflict	1	4	not specified;Adams-Oliver syndrome 5;Cardiovascular phenotype	7/16/2017	-18.27	0.75	BLB	3
134987	Simple	35586704	T	.	Conflict	1	3	Hajdu-Cheney syndrome;Hirschsprung disease 1;not specified	5/23/2017	-8.4	1.333333333	BLB	3
135066	Simple	115670442	C	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/31/2017	-9.3	0.5	BLB	3
135069	Simple	114090343	T	.	Conflict	1	6	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	10/11/2017	-19.8	1.166666667	BLB	3
135110	Simple	142274954	T	.	Conflict	1	4	Gorlin syndrome;Hirschsprung disease 1;not specified;Hereditary cancer-predisposing syndrome;Anophthalmia - microphthalmia	8/1/2017	-13.5	1.75	BLB	3
135147	Simple	34666647	T	.	Conflict	1	3	Baller-Gerold syndrome;not specified	8/7/2017	-9.27	1	BLB	3
135364	Simple	374222196	A	.	Conflict	1	4	Tuberous sclerosis 1;not specified;Hereditary cancer-predisposing syndrome	7/19/2017	-12.27	0.75	BLB	3
135416	Simple	149565907	T	.	Conflict	1	3	Werner syndrome;not specified	7/20/2017	-8.7	1.333333333	BLB	3
135423	Simple	34477820	G	.	Conflict	1	3	Werner syndrome;not specified	8/9/2017	-11.7	1	BLB	3
135428	Simple	140768346	A	.	Conflict	1	3	Werner syndrome;not specified	8/4/2017	-9.3	0.666666667	BLB	3
135452	Simple	4987238	T	.	Conflict	1	3	Werner syndrome;not specified	8/4/2017	-9.3	0.666666667	BLB	3
135695	Simple	139196838	T	.	Conflict	1	9	"Colorectal cancer, susceptibility to;Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome"	11/9/2017	-18.27	1.111111111	BLB	3
135713	Simple	149328018	C	.	Conflict	1	6	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	8/2/2017	-19.5	1.5	BLB	3
135732	Simple	35578748	C	.	Conflict	1	5	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	7/27/2017	-16.2	1.8	BLB	3
135742	Simple	56252953	C	.	Conflict	1	5	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	8/9/2017	-18.3	2	BLB	3
135754	Simple	4988008	T	.	Conflict	1	5	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	8/7/2017	-18.9	1.6	BLB	3
135759	Simple	587780626	-	.	Conflict	1	5	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	7/20/2017	-13.8	1.4	BLB	3
135774	Simple	3218699	T	.	Conflict	1	6	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-15.6	1.666666667	BLB	3
135857	Simple	189025757	G	.	Conflict	1	4	Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/4/2017	-11.7	0.75	BLB	3
135862	Simple	34312619	A	.	Conflict	1	6	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	5/4/2017	-17.1	1.166666667	BLB	3
135878	Simple	1805156	A	.	Conflict	1	5	Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly	8/10/2017	-14.7	1.2	BLB	3
135883	Simple	145196322	A	.	Conflict	1	5	Gorlin syndrome;not specified;Hereditary cancer-predisposing syndrome;Holoprosencephaly	8/10/2017	-12.6	0.6	BLB	3
135941	Simple	369582237	G	.	Conflict	1	5	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/26/2017	-11.7	1	BLB	3
135943	Simple	116373169	A	.	Conflict	1	6	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/21/2017	-20.97	0.833333333	BLB	3
135946	Simple	1805322	T	.	Conflict	1	5	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/21/2017	-16.77	1.4	BLB	3
135951	Simple	63650860	G	.	Conflict	1	6	"Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not specified;Hereditary cancer-predisposing syndrome"	8/7/2017	-22.44	1.833333333	BLB	3
135981	Simple	587780742	A	.	Conflict	1	5	MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome	7/1/2017	-11.97	1.2	BLB	3
136053	Simple	186999445	C	.	Conflict	1	5	Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis	8/24/2017	-12.27	0.8	BLB	3
136061	Simple	587780786	T	.	Conflict	1	6	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	6/13/2017	-17.1	1.166666667	BLB	3
136094	Simple	201992974	A	.	Conflict	1	3	"Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome"	2/6/2017	-8.4	1.666666667	BLB	3
136097	Simple	587780806	T	.	Conflict	1	4	"Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome"	3/3/2017	-9.24	1.5	BLB	3
136123	Simple	576806329	T	.	Conflict	1	8	"Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant"	5/22/2017	-15.6	1.125	BLB	3
136144	Simple	587780828	G	.	Conflict	1	4	"Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-8.4	1.25	BLB	3
136147	Simple	4988352	T	.	Conflict	1	8	"Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/15/2017	-22.5	1.375	BLB	3
136151	Simple	587780832	C	.	Conflict	1	5	"Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;Neoplasm of the breast"	6/20/2017	-9.6	0.8	BLB	3
136156	Simple	201079501	G	.	Conflict	1	6	"Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome"	8/3/2017	-21.6	1.5	BLB	3
136209	Simple	121908823	T	.	Conflict	1	2	Pheochromocytoma;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome	7/20/2017	-9	0.5	BLB	3
136241	Simple	147884766	T	.	Conflict	1	6	"not specified;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	6/14/2016	-15.9	1.666666667	BLB	3
136261	Simple	77763289	A	.	Conflict	1	3	Very long chain acyl-CoA dehydrogenase deficiency;not specified	6/23/2017	-11.1	1.333333333	BLB	3
136299	Simple	111529228	T	.	Conflict	1	4	"not specified;Autosomal recessive cerebellar ataxia;Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type"	3/6/2017	-8.4	1.25	BLB	3
136375	Simple	587780850	T	.	Conflict	1	4	Pyridoxine-dependent epilepsy;not specified	3/15/2017	-10.47	1.75	BLB	3
136384	Simple	377608305	G	.	Conflict	1	4	Long QT syndrome;not specified;Cardiovascular phenotype	6/20/2016	-10.2	2	BLB	3
136416	Simple	141493373	A	.	Conflict	1	4	"not specified;not provided;Ataxia with Oculomotor Apraxia;Coenzyme Q10 deficiency, Oculomotor Apraxia Type"	5/31/2017	-8.4	1.25	BLB	3
136424	Simple	33987824	A	.	Conflict	1	3	"not specified;Primary Microcephaly, Recessive"	6/14/2016	-8.7	3	BLB	3
136513	Simple	28385028	T	.	Conflict	1	5	Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome	8/4/2017	-22.5	1.4	BLB	3
136514	Simple	146013879	G	.	Conflict	1	5	Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome	8/8/2017	-16.2	1.6	BLB	3
136518	Simple	138831180	G	.	Conflict	1	5	Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-16.5	1.4	BLB	3
136519	Simple	56009845	T	.	Conflict	1	4	Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome	8/15/2017	-13.5	1.5	BLB	3
136520	Simple	183176301	G	.	Conflict	1	5	Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome	9/8/2017	-19.47	1.4	BLB	3
136521	Simple	145310008	T	.	Conflict	1	3	Bloom syndrome;not specified	7/25/2017	-10.5	1.666666667	BLB	3
136539	Simple	80358144	C	.	Conflict	1	3	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	6/7/2017	-16.2	1.666666667	BLB	3
136575	Simple	61754141	G	.	Conflict	1	11	"Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/9/2017	-30.6	1.363636364	B	3
136580	Simple	4987050	G	.	Conflict	1	10	"Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	8/10/2017	-27.9	1.4	B	3
136582	Simple	45566938	A	.	Conflict	1	8	"Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	7/31/2017	-22.5	1.5	BLB	3
136632	Simple	199538058	A	.	Conflict	1	6	Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype	7/29/2017	-19.77	1.5	BLB	3
136641	Simple	371831239	C	.	Conflict	1	4	Long QT syndrome;not specified;Cardiovascular phenotype	7/20/2017	-10.47	1.75	BLB	3
136647	Simple	150280879	C	.	Conflict	1	4	Brugada syndrome 4;Brugada syndrome;not specified;Cardiovascular phenotype	7/13/2017	-13.8	1.5	BLB	3
136655	Simple	1805029	T	.	Conflict	1	5	Idiopathic generalized epilepsy;Juvenile myoclonic epilepsy;Episodic ataxia;not specified	7/17/2017	-16.5	1.4	BLB	3
136659	Simple	201593267	A	.	Conflict	1	5	Long QT syndrome;not specified;Cardiovascular phenotype	4/6/2017	-11.67	2.8	BLB	3
136668	Simple	2298758	A	.	Conflict	1	4	Homocystinuria due to CBS deficiency;Homocystinuria;Thoracic aortic aneurysm and aortic dissection;not specified	6/7/2017	-15.9	1.75	BLB	3
136672	Simple	76292057	T	.	Conflict	1	4	Homocystinuria due to CBS deficiency;Homocystinuria;not specified	1/18/2017	-15.3	2.25	BLB	3
136727	Simple	142742071	G	.	Conflict	1	7	Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified	5/16/2017	-12.3	1.142857143	BLB	3
136729	Simple	150138016	T	.	Conflict	1	7	Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified	5/16/2017	-12.3	1.142857143	BLB	3
136730	Simple	79644671	C	.	Conflict	1	7	Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified	5/16/2017	-12.3	1.142857143	BLB	3
136758	Simple	56142348	G	.	Conflict	1	4	Autosomal dominant nocturnal frontal lobe epilepsy;not specified	7/3/2017	-16.44	2	BLB	3
136759	Simple	55915440	A	.	Conflict	1	5	Autosomal dominant nocturnal frontal lobe epilepsy;not specified;not provided	8/11/2017	-17.61	2.6	BLB	3
136765	Simple	201123897	T	.	Conflict	1	3	Autosomal dominant nocturnal frontal lobe epilepsy;not specified	5/24/2017	-11.04	2	BLB	3
136773	Simple	8192486	G	.	Conflict	1	3	Autosomal dominant nocturnal frontal lobe epilepsy;not specified	5/16/2017	-11.1	1.333333333	BLB	3
136774	Simple	144813907	T	.	Conflict	1	3	Autosomal dominant nocturnal frontal lobe epilepsy;not specified	8/4/2017	-11.04	2	BLB	3
136783	Simple	201824641	T	.	Conflict	1	3	Neuronal ceroid lipofuscinosis;not specified	5/19/2017	-10.41	2.666666667	BLB	3
136797	Simple	146135801	T	.	Conflict	1	4	"Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive"	6/14/2016	-12.6	2.25	BLB	3
136817	Simple	74354654	T	.	Conflict	1	5	Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome	7/20/2017	-14.4	1.2	BLB	3
136831	Simple	142331907	A	.	Conflict	1	3	Cortical dysplasia-focal epilepsy syndrome;not specified	8/14/2017	-9.84	2.666666667	BLB	3
136832	Simple	201219937	T	.	Conflict	1	3	Cortical dysplasia-focal epilepsy syndrome;not specified	7/11/2017	-10.44	2.333333333	BLB	3
136989	Simple	61730662	C	.	Conflict	1	3	"not specified;not provided;Coenzyme Q10 deficiency, primary"	6/14/2016	-9.3	2.666666667	BLB	3
137037	Simple	6383	G	.	Conflict	1	4	Progressive myoclonic epilepsy;Unverricht-Lundborg syndrome;not specified	7/13/2017	-13.2	1.75	BLB	3
137040	Simple	140238987	T	.	Conflict	1	4	"Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive"	8/22/2017	-10.2	1.75	BLB	3
137060	Simple	146073498	C	.	Conflict	1	3	"Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive"	8/14/2017	-10.5	1.666666667	BLB	3
137073	Simple	41298896	C	.	Conflict	1	3	Severe combined immunodeficiency with sensitivity to ionizing radiation;Histiocytic medullary reticulosis;not specified;not provided	6/30/2017	-13.2	1.666666667	BLB	3
137082	Simple	74874677	G	.	Conflict	1	3	"not specified;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4"	8/18/2016	-14.4	3	BLB	3
137095	Simple	61749952	T	.	Conflict	1	5	Maple syrup urine disease;Pyruvate dehydrogenase complex deficiency;Leigh syndrome;not specified	6/14/2016	-9.3	2.2	BLB	3
137120	Simple	142023670	T	.	Conflict	1	3	3-methylglutaconic aciduria type V;not specified	8/1/2017	-10.5	1.666666667	BLB	3
137150	Simple	34098809	A	.	Conflict	1	3	"Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome"	7/12/2017	-10.5	1.666666667	BLB	3
137158	Simple	140167653	A	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified;Cardiomyopathy, ARVC"	7/25/2017	-15.9	1.75	BLB	3
137166	Simple	368809971	A	.	Conflict	1	7	"Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant"	7/9/2017	-18.24	2.142857143	BLB	3
137168	Simple	150422458	A	.	Conflict	1	9	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	7/12/2017	-28.98	2.111111111	B	3
137192	Simple	115205076	A	.	Conflict	1	3	Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified	7/27/2017	-10.5	1.666666667	BLB	3
137193	Simple	201860746	C	.	Conflict	1	4	Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified	7/31/2017	-17.1	1	BLB	3
137214	Simple	114241106	A	.	Conflict	1	3	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome	6/14/2016	-9.9	2.333333333	BLB	3
137276	Simple	141828876	A	.	Conflict	1	4	Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-10.5	1.5	BLB	3
137277	Simple	55719336	A	.	Conflict	1	5	Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	7/20/2017	-17.1	1.2	BLB	3
137280	Simple	375613884	A	.	Conflict	1	4	Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	7/24/2017	-8.4	1	BLB	3
137310	Simple	144822241	A	.	Conflict	1	4	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD)	3/9/2017	-9.6	2.25	BLB	3
137319	Simple	139686090	T	.	Conflict	1	5	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	4/20/2017	-16.74	1.8	BLB	3
137320	Simple	372872626	T	.	Conflict	1	4	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	4/5/2017	-10.8	1.5	BLB	3
137341	Simple	35346129	A	.	Conflict	1	7	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	8/3/2017	-24.24	2.714285714	B	3
137349	Simple	147102633	A	.	Conflict	1	5	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	7/20/2017	-16.5	1.4	BLB	3
137380	Simple	140679502	A	.	Conflict	1	5	not specified;Walker-Warburg congenital muscular dystrophy	8/4/2017	-11.94	1.2	BLB	3
137389	Simple	112803404	T	.	Conflict	1	4	"Rett syndrome, congenital variant;not specified;not provided"	8/24/2017	-15	0.25	BLB	3
137410	Simple	200750234	A	.	Conflict	1	3	"Idiopathic generalized epilepsy;Epilepsy, juvenile myoclonic 5;Epilepsy, childhood absence 4;not specified"	5/24/2017	-10.47	2	BLB	3
137412	Simple	551045474	T	.	Conflict	1	3	"Idiopathic generalized epilepsy;Juvenile myoclonic epilepsy;Epilepsy, juvenile myoclonic 5;Epilepsy, childhood absence 4;not specified"	4/17/2017	-10.5	1.666666667	BLB	3
137414	Simple	41308303	A	.	Conflict	1	3	"Idiopathic generalized epilepsy;Epilepsy, juvenile myoclonic 5;Epilepsy, childhood absence 4;not specified"	5/24/2017	-10.47	2	BLB	3
137461	Simple	142919829	G	.	Conflict	1	3	not specified;Combined oxidative phosphorylation deficiency	6/14/2016	-10.5	2	BLB	3
137528	Simple	117639846	G	.	Conflict	1	3	Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified	7/14/2017	-9.9	2	BLB	3
137568	Simple	118015540	A	.	Conflict	1	4	"Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S"	8/2/2017	-16.5	1.5	BLB	3
137569	Simple	17853166	C	.	Conflict	1	3	Familial dysautonomia;not specified	8/7/2017	-11.1	1.333333333	BLB	3
137571	Simple	1140064	T	.	Conflict	1	3	Familial dysautonomia;not specified	8/7/2017	-11.1	1.333333333	BLB	3
137573	Simple	41278359	T	.	Conflict	1	4	Familial dysautonomia;not specified	7/17/2017	-16.5	1.5	BLB	3
137581	Simple	2230786	A	.	Conflict	1	3	Familial dysautonomia;not specified	8/7/2017	-11.1	1.333333333	BLB	3
137706	Simple	142672910	G	.	Conflict	1	3	Neuronal ceroid lipofuscinosis;not specified	8/10/2017	-10.5	1.666666667	BLB	3
137708	Simple	144586525	G	.	Conflict	1	3	Liver failure acute infantile;not specified	6/14/2016	-9.3	2.666666667	BLB	3
137731	Simple	35958226	T	.	Conflict	1	5	Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome	8/11/2017	-18.6	1.8	BLB	3
137766	Simple	77955179	G	.	Conflict	1	3	Mitochondrial complex III deficiency;not specified	6/14/2016	-9.3	2.666666667	BLB	3
137798	Simple	116592778	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/4/2017	-20.4	1.8	BLB	3
137799	Simple	142095604	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/3/2017	-12.51	1.5	BLB	3
137812	Simple	202185465	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/20/2017	-17.7	1.4	BLB	3
137821	Simple	371480338	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/31/2017	-14.4	1.4	BLB	3
137839	Simple	145204073	C	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/6/2017	-14.7	1.444444444	BLB	3
137841	Simple	201155967	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/20/2017	-17.7	1.4	BLB	3
137844	Simple	375022009	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	4/4/2017	-10.47	2	BLB	3
137882	Simple	143484751	A	.	Conflict	1	2	Angelman syndrome;not specified	10/19/2017	-9	0	BLB	3
137885	Simple	150331504	C	.	Conflict	1	4	Angelman syndrome;not specified	4/20/2017	-22.8	1.25	BLB	3
137886	Simple	139082033	A	.	Conflict	1	5	Angelman syndrome;not specified	8/1/2017	-20.97	1	BLB	3
137902	Simple	576271894	T	.	Conflict	1	4	"Dilated cardiomyopathy 1W;not specified;Dilated Cardiomyopathy, Dominant"	11/26/2016	-13.5	2	BLB	3
137907	Simple	143309981	T	.	Conflict	1	3	not specified;Primary Microcephaly 2 With or Without Cortical Malformations	6/14/2016	-9.3	2.666666667	BLB	3
137908	Simple	61744321	T	.	Conflict	1	3	not specified;Primary Microcephaly 2 With or Without Cortical Malformations	6/14/2016	-8.7	3	BLB	3
137913	Simple	35031397	G	.	Conflict	1	5	not specified;not provided;WFS1-Related Spectrum Disorders;Monogenic diabetes	9/30/2016	-15.6	2	BLB	3
137918	Simple	61735401	T	.	Conflict	1	4	not specified;not provided	1/17/2017	-12.27	2.5	BLB	3
138009	Simple	532941548	C	.	Conflict	1	9	short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome	5/5/2017	-22.14	1.555555556	BLB	3
138026	Simple	35450031	A	.	Conflict	1	5	Early infantile epileptic encephalopathy 7;not specified;not provided;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy	8/11/2017	-21.6	1.2	BLB	3
138028	Simple	369438374	A	.	Conflict	1	4	not specified;not provided;KCNQ2-Related Disorders;Early infantile epileptic encephalopathy	2/28/2017	-9.87	2.25	BLB	3
138057	Simple	145238250	A	.	Conflict	1	4	"Progressive myoclonic epilepsy;Epilepsy, progressive myoclonic 3;not specified"	7/11/2017	-14.1	1	BLB	3
138112	Simple	151104648	G	.	Conflict	1	3	"Epilepsy, lateral temporal lobe, autosomal dominant;not specified"	7/19/2017	-10.5	1.666666667	BLB	3
138174	Simple	146020786	T	.	Conflict	1	5	"Mental retardation, autosomal dominant 1;not specified;Intellectual Disability, Dominant"	8/11/2017	-19.5	1.4	BLB	3
138188	Simple	61748381	A	.	Conflict	1	6	"Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified;not provided"	6/17/2016	-30.6	2.5	B	3
138190	Simple	61750251	A	.	Conflict	1	2	"Angelman syndrome;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified;not provided"	10/24/2016	-10.2	2.5	BLB	3
138216	Simple	140924661	T	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type 2;not specified;not provided"	10/31/2017	-11.07	1.666666667	BLB	3
138221	Simple	112721309	G	.	Conflict	1	3	"Ceroid lipofuscinosis neuronal 7;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive"	8/1/2017	-9.9	2	BLB	3
138225	Simple	145453022	C	.	Conflict	1	3	"Ceroid lipofuscinosis neuronal 7;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive"	6/30/2017	-9.9	2	BLB	3
138227	Simple	75039907	A	.	Conflict	1	3	"Ceroid lipofuscinosis neuronal 7;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive"	8/10/2017	-9.9	2	BLB	3
138254	Simple	63750820	G	.	Conflict	1	5	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/4/2017	-15.6	2	BLB	3
138255	Simple	533553381	T	.	Conflict	1	8	Lynch syndrome I;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/1/2017	-32.7	1.625	B	3
138258	Simple	146785465	G	.	Conflict	1	7	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/6/2017	-24.6	1.428571429	B	3
138289	Simple	1805087	G	.	Conflict	1	2	Gastrointestinal stromal tumor;Disorders of Intracellular Cobalamin Metabolism;not specified	6/14/2016	-10.2	2.5	BLB	3
138291	Simple	162036	G	.	Conflict	1	2	Gastrointestinal stromal tumor;Disorders of Intracellular Cobalamin Metabolism;not specified	6/14/2016	-10.2	2.5	BLB	3
138299	Simple	6874544	C	.	Conflict	1	3	"Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type;Disorders of Intracellular Cobalamin Metabolism;not specified"	7/24/2017	-11.1	1.333333333	BLB	3
138300	Simple	10380	T	.	Conflict	1	2	Gastrointestinal stromal tumor;Disorders of Intracellular Cobalamin Metabolism;not specified	6/14/2016	-10.2	2.5	BLB	3
138304	Simple	1532268	T	.	Conflict	1	2	Gastrointestinal stromal tumor;Disorders of Intracellular Cobalamin Metabolism;not specified	6/14/2016	-10.2	2.5	BLB	3
138309	Simple	139977567	T	.	Conflict	1	3	MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome	6/14/2016	-11.1	1.666666667	BLB	3
138310	Simple	2275602	A	.	Conflict	1	3	not specified;Hereditary cancer-predisposing syndrome	5/3/2016	-10.44	2.666666667	BLB	3
138311	Simple	201678305	C	.	Conflict	1	8	MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome	10/25/2017	-30.3	1.375	B	3
138332	Simple	137988790	A	.	Conflict	1	3	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified"	7/6/2017	-10.5	1.666666667	BLB	3
138335	Simple	113154524	T	.	Conflict	1	5	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified"	8/6/2017	-19.2	1.6	BLB	3
138346	Simple	143288748	C	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified"	9/19/2017	-9.84	2	BLB	3
138357	Simple	142639688	A	.	Conflict	1	6	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive"	6/2/2017	-19.2	1.666666667	BLB	3
138360	Simple	138168272	A	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive"	8/11/2017	-16.5	1.5	BLB	3
138364	Simple	113363750	A	.	Conflict	1	5	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified"	5/8/2017	-19.2	1.6	BLB	3
138370	Simple	201198815	G	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified"	10/26/2016	-10.2	2	BLB	3
138372	Simple	61734198	T	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified"	7/26/2017	-15.9	1.75	BLB	3
138378	Simple	45587932	G	.	Conflict	1	9	"Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	7/15/2017	-25.41	1.555555556	B	3
138392	Simple	150885220	A	.	Conflict	1	4	not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	12/13/2016	-8.91	3.5	BLB	3
138428	Simple	577706448	T	.	Conflict	1	4	"Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome"	7/19/2017	-13.14	2.25	BLB	3
138454	Simple	35227875	T	.	Conflict	1	3	Mitochondrial complex I deficiency;not specified	6/14/2016	-9.3	2.666666667	BLB	3
138511	Simple	35366555	C	.	Conflict	1	6	"Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/25/2017	-21	1.833333333	BLB	3
138522	Simple	187783545	A	.	Conflict	1	4	Lafora disease;not specified	7/19/2017	-15.3	2	BLB	3
138525	Simple	77612903	A	.	Conflict	1	3	Atrial septal defect 7 with or without atrioventricular conduction defects;not specified	7/26/2017	-10.98	2.666666667	BLB	3
138545	Simple	143495349	A	.	Conflict	1	4	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	10/1/2016	-10.2	2	BLB	3
138547	Simple	113380721	T	.	Conflict	1	5	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	5/24/2017	-13.77	1.6	BLB	3
138549	Simple	201727684	G	.	Conflict	1	5	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	7/12/2017	-10.2	1.4	BLB	3
138550	Simple	201941844	C	.	Conflict	1	3	Pitt-Hopkins-like syndrome 2;not specified	8/1/2017	-10.44	2.333333333	BLB	3
138553	Simple	201592993	A	.	Conflict	1	5	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	5/17/2017	-16.5	1.4	BLB	3
138557	Simple	200248561	C	.	Conflict	1	5	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	8/1/2017	-15.6	1.6	BLB	3
138586	Simple	149867749	G	.	Conflict	1	4	"Retinitis pigmentosa-deafness syndrome;not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-8.4	2.75	BLB	3
138601	Simple	193148631	A	.	Conflict	1	4	Early infantile epileptic encephalopathy 9;not specified;not provided	7/28/2017	-14.64	2.75	BLB	3
138606	Simple	61735820	A	.	Conflict	1	3	not specified;Microcephalic Osteodysplastic Primordial Dwarfism	6/14/2016	-8.7	3	BLB	3
138611	Simple	33956783	A	.	Conflict	1	4	not specified;not provided;Microcephalic Osteodysplastic Primordial Dwarfism	12/1/2016	-11.1	2.75	BLB	3
138664	Simple	35560997	C	.	Conflict	1	4	Pyruvate dehydrogenase complex deficiency;not specified;not provided	6/14/2016	-13.2	2	BLB	3
138700	Simple	201167814	T	.	Conflict	1	5	not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/30/2017	-15.3	2	BLB	3
138701	Simple	115052399	T	.	Conflict	1	5	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/18/2017	-20.1	2.2	BLB	3
138714	Simple	3739199	C	.	Conflict	1	4	Early infantile epileptic encephalopathy 10;Early infantile epileptic encephalopathy 12;not specified	7/25/2017	-15.18	3	BLB	3
138717	Simple	149731642	G	.	Conflict	1	5	Early infantile epileptic encephalopathy 12;not specified;Epileptic encephalopathy	6/27/2017	-18.6	1.8	BLB	3
138725	Simple	146478958	T	.	Conflict	1	3	Early infantile epileptic encephalopathy 10;Early infantile epileptic encephalopathy 12;not specified	8/14/2017	-10.44	2.333333333	BLB	3
138743	Simple	373550219	T	.	Conflict	1	5	Progressive sclerosing poliodystrophy;not specified;POLG-Related Spectrum Disorders	10/31/2016	-10.77	1.8	BLB	3
138747	Simple	2307448	A	.	Conflict	1	3	Progressive sclerosing poliodystrophy;not specified	7/31/2017	-9.9	2	BLB	3
138756	Simple	61752780	T	.	Conflict	1	6	Progressive sclerosing poliodystrophy;not specified;POLG-Related Spectrum Disorders	7/21/2017	-24	1.666666667	B	3
138767	Simple	144346886	T	.	Conflict	1	5	Progressive sclerosing poliodystrophy;not specified	5/16/2017	-16.47	1.6	BLB	3
138780	Simple	148658588	A	.	Conflict	1	3	Progressive sclerosing poliodystrophy;not specified	4/3/2017	-9.87	2.333333333	BLB	3
138802	Simple	147268650	A	.	Conflict	1	5	Progressive myoclonus epilepsy with ataxia;not specified	8/14/2017	-21.3	1.8	BLB	3
138803	Simple	144843013	A	.	Conflict	1	5	Progressive myoclonus epilepsy with ataxia;not specified	7/25/2017	-16.74	1.6	BLB	3
138808	Simple	116197349	A	.	Conflict	1	4	Progressive myoclonus epilepsy with ataxia;not specified	6/14/2017	-10.14	2.25	BLB	3
138877	Simple	45478491	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome"	9/13/2017	-10.8	1.2	BLB	3
138900	Simple	537723089	A	.	Conflict	1	5	"Dilated cardiomyopathy 1DD;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/24/2017	-21.9	1.6	BLB	3
138943	Simple	373721253	T	.	Conflict	1	3	not specified;Catecholaminergic polymorphic ventricular tachycardia	5/16/2017	-8.94	1.666666667	BLB	3
138954	Simple	186326951	T	.	Conflict	1	5	"not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	5/16/2017	-13.5	1.6	BLB	3
138986	Simple	142910512	T	.	Conflict	1	3	not specified;Early infantile epileptic encephalopathy	5/18/2017	-10.44	2.333333333	BLB	3
139009	Simple	149859004	T	.	Conflict	1	5	"Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	6/6/2017	-15.84	2	BLB	3
139022	Simple	149534277	A	.	Conflict	1	5	"Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	1/19/2017	-12.87	2	BLB	3
139044	Simple	370346797	A	.	Conflict	1	10	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	7/12/2017	-10.8	1.6	BLB	3
139051	Simple	41313687	T	.	Conflict	1	10	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	8/10/2017	-17.7	1.2	BLB	3
139054	Simple	72549411	T	.	Conflict	1	11	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	6/14/2017	-12.57	1.181818182	BLB	3
139061	Simple	41313033	T	.	Conflict	1	12	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	7/20/2017	-17.67	1.416666667	BLB	3
139078	Simple	61753148	C	.	Conflict	1	5	"Leigh syndrome;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;not provided"	4/30/2017	-8.4	1.6	BLB	3
139123	Simple	148144444	T	.	Conflict	1	5	"Basal ganglia disease, biotin-responsive;not specified;not provided"	6/3/2017	-27	1.8	B	3
139130	Simple	146402942	A	.	Conflict	1	5	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Recessive"	6/27/2017	-13.17	1.8	BLB	3
139131	Simple	116134953	T	.	Conflict	1	4	Early myoclonic encephalopathy;not specified;Early infantile epileptic encephalopathy	7/26/2017	-10.11	2.5	BLB	3
139139	Simple	145322467	A	.	Conflict	1	4	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Recessive"	7/31/2017	-12.6	2	BLB	3
139140	Simple	147840220	A	.	Conflict	1	5	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Recessive"	8/16/2017	-11.01	2	BLB	3
139142	Simple	142861804	G	.	Conflict	1	3	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Recessive"	6/30/2017	-10.5	1.666666667	BLB	3
139145	Simple	146300431	T	.	Conflict	1	5	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Recessive"	7/19/2017	-9.87	2.2	BLB	3
139157	Simple	369273744	G	.	Conflict	1	3	"GLUT1 deficiency syndrome 1, autosomal recessive;not specified"	4/13/2017	-10.44	2.333333333	BLB	3
139168	Simple	146879902	A	.	Conflict	1	7	"GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome"	1/19/2017	-22.77	1.571428571	BLB	3
139173	Simple	148058006	G	.	Conflict	1	5	Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	7/16/2017	-16.5	1.6	BLB	3
139175	Simple	76315093	A	.	Conflict	1	4	Arterial tortuosity syndrome;not specified	8/8/2017	-15.3	2	BLB	3
139176	Simple	117587497	A	.	Conflict	1	4	Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	7/11/2017	-12.9	2	BLB	3
139222	Simple	138863915	A	.	Conflict	1	5	Long QT syndrome;Romano-Ward syndrome;not specified;Cardiovascular phenotype	5/3/2017	-12.9	1.8	BLB	3
139239	Simple	116319889	T	.	Conflict	1	3	"Spastic paraplegia 7;not specified;not provided;Spastic Paraplegia, Recessive"	7/14/2017	-10.5	1.666666667	BLB	3
139241	Simple	111475461	A	.	Conflict	1	3	"Spastic paraplegia 7;not specified;not provided;Spastic Paraplegia, Recessive"	10/31/2017	-11.1	1.333333333	BLB	3
139245	Simple	60488729	T	.	Conflict	1	3	"Spastic paraplegia 7;not specified;Spastic Paraplegia, Recessive"	2/6/2017	-11.1	1.666666667	BLB	3
139248	Simple	79756036	A	.	Conflict	1	3	"Spastic paraplegia 7;not specified;Spastic Paraplegia, Recessive"	2/6/2017	-10.5	2	BLB	3
139249	Simple	11559075	A	.	Conflict	1	3	"Spastic paraplegia 7;not specified;Spastic Paraplegia, Recessive"	7/16/2017	-10.5	1.666666667	BLB	3
139251	Simple	61747712	T	.	Conflict	1	3	"Spastic paraplegia 7;not specified;Spastic Paraplegia, Recessive"	1/9/2017	-10.5	2	BLB	3
139269	Simple	77358650	A	.	Conflict	1	5	"not specified;Abnormality of brain morphology;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	8/1/2017	-24.6	1.6	B	3
139307	Simple	150902677	T	.	Conflict	1	3	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	7/20/2017	-10.5	1.666666667	BLB	3
139308	Simple	147132904	T	.	Conflict	1	4	not specified;Early infantile epileptic encephalopathy	4/26/2017	-15.84	2.25	BLB	3
139309	Simple	72758823	T	.	Conflict	1	4	"not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	7/12/2016	-10.5	1.75	BLB	3
139316	Simple	187613754	T	.	Conflict	1	4	Early infantile epileptic encephalopathy 5;not specified;Early infantile epileptic encephalopathy	5/17/2017	-10.71	2.25	BLB	3
139323	Simple	73636611	G	.	Conflict	1	4	"Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked;not specified;not provided"	4/19/2017	-12.84	2.25	BLB	3
139334	Simple	375315233	A	.	Conflict	1	4	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	11/23/2016	-12.9	2	BLB	3
139336	Simple	202011521	A	.	Conflict	1	6	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	7/24/2017	-22.2	1.5	BLB	3
139356	Simple	147607230	T	.	Conflict	1	5	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	4/25/2017	-15.84	2	BLB	3
139379	Simple	587598397	T	.	Conflict	1	3	Leigh syndrome;not specified	7/17/2017	-11.1	1.333333333	BLB	3
139393	Simple	201374999	A	.	Conflict	1	4	"Epileptic encephalopathy, early infantile, 1;Myoclonic epilepsy, familial infantile;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24"	1/24/2017	-17.1	1.5	BLB	3
139397	Simple	184389316	T	.	Conflict	1	5	"Epileptic encephalopathy, early infantile, 1;Myoclonic epilepsy, familial infantile;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24"	7/16/2017	-15.9	1.8	BLB	3
139398	Simple	75961715	T	.	Conflict	1	3	"Myoclonic epilepsy, familial infantile;not specified"	6/14/2016	-9.9	2.333333333	BLB	3
139576	Simple	147680216	A	.	Conflict	1	4	"Odontoonychodermal dysplasia;Schopf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4;Selective tooth agenesis"	6/14/2016	-9.3	1	BLB	3
140943	Simple	587781386	C	.	Conflict	1	4	Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome	8/4/2017	-9.27	0.5	BLB	3
141343	Simple	138969595	A	.	Conflict	1	5	"Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility"	9/13/2017	-9.6	0.4	BLB	3
141578	Simple	56026142	T	.	Conflict	1	7	"Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility"	10/11/2017	-12.57	0.857142857	BLB	3
141595	Simple	587781864	T	.	Conflict	1	5	MYH-associated polyposis;not specified;not provided;Hereditary cancer-predisposing syndrome	8/29/2017	11.49	1	PLP	3
141600	Simple	529380972	G	.	Conflict	1	6	Melanoma-pancreatic cancer syndrome;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome	7/19/2017	-27.21	1.166666667	B	3
141729	Simple	587780871	T	.	Conflict	1	4	Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome	8/10/2017	-10.8	1.5	BLB	3
141764	Simple	55832599	A	.	Conflict	1	4	Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome	8/15/2017	8.7	0.5	PLP	3
141797	Simple	587782020	T	.	Conflict	1	3	Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome	7/3/2017	-9.3	0.333333333	BLB	3
141810	Simple	376097289	G	.	Conflict	1	7	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	7/19/2017	-18.57	0.857142857	BLB	3
141818	Simple	200928781	G	.	Conflict	1	4	Familial cancer of breast;not provided;Hereditary cancer-predisposing syndrome	8/25/2017	8.7	0	PLP	3
141854	Simple	587782061	G	.	Conflict	1	5	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	5/25/2017	-9.6	0.6	BLB	3
142004	Simple	587782173	T	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome"	6/27/2017	14.1	0.4	PLP	3
142011	Simple	587776399	G	.	Conflict	1	4	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	9/29/2017	-9.3	0.25	BLB	3
142034	Simple	567202367	T	.	Conflict	1	5	Peutz-Jeghers syndrome;Hereditary cancer-predisposing syndrome	6/10/2017	-12.27	0.6	BLB	3
142244	Simple	587782331	T	.	Conflict	1	3	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	4/14/2017	-9.3	0.666666667	BLB	3
142319	Simple	370976710	A	.	Conflict	1	4	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-9.6	0.75	BLB	3
142324	Simple	371409680	T	.	Conflict	1	7	Li-Fraumeni syndrome;not specified;not provided;Astrocytoma;Hereditary cancer-predisposing syndrome	9/5/2017	14.4	0.428571429	PLP	3
142421	Simple	576055272	T	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/4/2017	-15.3	0	BLB	3
142450	Simple	370359540	A	.	Conflict	1	3	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	6/5/2017	-9.3	0	BLB	3
142458	Simple	143615668	T	.	Conflict	1	4	"Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome"	9/6/2017	-9.3	0.25	BLB	3
142524	Simple	72552322	T	.	Conflict	1	6	"Familial cancer of breast;Breast and colorectal cancer, susceptibility to;not provided;Hereditary cancer-predisposing syndrome"	9/13/2017	14.4	0.5	PLP	3
142552	Simple	35993958	A	.	Conflict	1	4	Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome	8/28/2017	-9	0.5	BLB	3
142797	Simple	576279166	C	.	Conflict	1	6	"Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/18/2017	-9.87	1	BLB	3
142959	Simple	139194813	T	.	Conflict	1	3	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/9/2017	-9.3	0.333333333	BLB	3
142961	Simple	587782853	ACTAAACTAA	.	Conflict	1	5	Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/10/2017	-14.1	1	BLB	3
143004	Simple	587782886	A	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome	8/11/2017	-9.6	0.25	BLB	3
143132	Simple	147834269	A	.	Conflict	1	5	"Diabetes mellitus AND insipidus with optic atrophy AND deafness;not specified;not provided;WFS1-Related Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant"	8/4/2016	-14.1	1.4	BLB	3
143152	Simple	148000791	C	.	Conflict	1	4	Joubert syndrome;Joubert syndrome 3;not specified;not provided	4/11/2017	-12.6	2	BLB	3
143344	Simple	267608572	T	.	Conflict	1	4	"Severe neonatal-onset encephalopathy with microcephaly;Mental retardation, X-linked, syndromic 13;Rett syndrome;not specified"	6/19/2017	-9.24	1.5	BLB	3
143406	Simple	61752992	-	.	Conflict	1	7	"Angelman syndrome;Severe neonatal-onset encephalopathy with microcephaly;Mental retardation, X-linked, syndromic 13;Rett syndrome;Autism, susceptibility to, X-linked 3;not specified;not provided;Delayed speech and language development;Delayed gross motor development;Loss of ability to walk;Smith-Magenis Syndrome-like"	12/13/2016	32.76	2	P	3
143579	Simple	61748404	C	.	Conflict	1	3	Rett syndrome;not specified;not provided	1/19/2017	9.33	2.666666667	PLP	3
143603	Simple	61748420	A	.	Conflict	1	2	"Mental retardation, X-linked, syndromic 13;Rett syndrome;not provided"	6/13/2017	9.6	2.5	PLP	3
143738	Simple	61749723	A	.	Conflict	1	2	Rett syndrome;not provided	11/16/2016	8.7	1.5	PLP	3
143749	Simple	61751444	A	.	Conflict	1	3	"Mental retardation, X-linked, syndromic 13;Rett syndrome;Autism, susceptibility to, X-linked 3;not provided"	6/22/2017	15	0.333333333	P	3
155748	Simple	151117904	G	.	Conflict	1	4	"Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;not provided;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia"	7/28/2017	-15	0.75	BLB	3
155778	Simple	367643805	A	.	Conflict	1	4	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified;Disproportionate tall stature"	5/26/2017	-11.34	1.75	BLB	3
155796	Simple	147157552	A	.	Conflict	1	6	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	7/28/2017	-12.51	1.166666667	BLB	3
155811	Simple	142992009	G	.	Conflict	1	6	Familial hypertrophic cardiomyopathy 14;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Cardiovascular phenotype	7/23/2017	-11.31	1.666666667	BLB	3
155817	Simple	201960644	A	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified"	6/14/2016	-8.61	2.25	BLB	3
155837	Simple	10482810	C	.	Conflict	1	7	Holt-Oram syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Loeys-Dietz syndrome 4;not provided	7/31/2017	-27.3	0.571428571	B	3
155865	Simple	12623957	A	.	Conflict	1	4	"not specified;not provided;Hypohidrotic Ectodermal Dysplasia, Dominant"	12/12/2016	-22.8	1.5	BLB	3
155870	Simple	260632	A	.	Conflict	1	2	"not specified;not provided;Hypohidrotic Ectodermal Dysplasia, Dominant"	6/14/2016	-10.2	2.5	BLB	3
155871	Simple	3218613	A	.	Conflict	1	2	Autoimmune lymphoproliferative syndrome	7/25/2017	-9	0.5	BLB	3
156063	Simple	61753982	-	.	Conflict	1	3	Rett syndrome;not specified;not provided	6/2/2017	-10.8	1.666666667	BLB	3
156167	Simple	374191973	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	7/21/2017	-9.3	0.25	BLB	3
156440	Simple	2230267	C	.	Conflict	1	4	"Glycogen storage disease 0, muscle;Hyperferritinemia cataract syndrome;Neuroferritinopathy;not specified;sporadic abdominal aortic aneurysm"	6/14/2016	-22.2	1.75	BLB	3
156661	Simple	587783132	A	.	Conflict	1	2	Rett syndrome;not provided	6/15/2016	11.4	1.5	PLP	3
156694	Simple	587783161	T	.	Conflict	1	3	Early infantile epileptic encephalopathy 2;not specified;Angelman syndrome-like	10/9/2017	-9.27	0.666666667	BLB	3
157596	Simple	73969684	T	.	Conflict	1	11	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	8/2/2017	-35.1	1.181818182	B	3
157597	Simple	182650126	C	.	Conflict	1	13	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	8/4/2017	-33.54	1	B	3
157682	Simple	587783164	-	.	Conflict	1	5	"Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.51	1.6	BLB	3
157703	Simple	145673861	A	.	Conflict	1	4	"Permanent neonatal diabetes mellitus;Persistent hyperinsulinemic hypoglycemia of infancy;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.24	1.5	BLB	3
157711	Simple	34442536	T	.	Conflict	1	4	Rhizomelic chondrodysplasia punctata;not specified	12/5/2016	-15.9	2	BLB	3
157743	Simple	398124508	GGCGGC	.	Conflict	1	3	"Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified;not provided"	7/15/2017	-12	0.333333333	BLB	3
157755	Simple	587783198	GCCGCC	.	Conflict	1	3	"Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked;not specified;not provided"	8/10/2017	-10.2	1.666666667	BLB	3
157768	Simple	141108591	A	.	Conflict	1	3	"not specified;Primary Microcephaly, Recessive"	6/14/2016	-8.4	1.666666667	BLB	3
157784	Simple	144049904	A	.	Conflict	1	4	"not specified;Primary Microcephaly, Recessive"	8/15/2017	-9	0.75	BLB	3
157790	Simple	113611857	A	.	Conflict	1	3	"not specified;Primary Microcephaly, Recessive"	6/14/2016	-9.3	2.666666667	BLB	3
157793	Simple	61995747	T	.	Conflict	1	5	"not specified;not provided;Primary Microcephaly, Recessive"	4/27/2017	-17.7	2	BLB	3
157798	Simple	552158003	C	.	Conflict	1	3	Primary autosomal recessive microcephaly 5;not specified	12/27/2016	-8.58	2.666666667	BLB	3
157808	Simple	138558822	C	.	Conflict	1	4	"not specified;Primary Microcephaly, Recessive"	10/6/2016	-17.1	1.5	BLB	3
157809	Simple	41299587	C	.	Conflict	1	5	"not specified;Primary Microcephaly, Recessive"	6/22/2017	-19.5	1.4	BLB	3
157818	Simple	139367209	A	.	Conflict	1	5	"not specified;not provided;Primary Microcephaly, Recessive"	9/29/2016	-19.5	1.6	BLB	3
157830	Simple	143733126	G	.	Conflict	1	3	Primary autosomal recessive microcephaly 5;not specified	5/24/2016	-8.58	2.666666667	BLB	3
157838	Simple	112230218	T	.	Conflict	1	3	"not specified;Primary Microcephaly, Recessive"	7/18/2016	-11.7	1.333333333	BLB	3
157861	Simple	115891952	A	.	Conflict	1	3	"not specified;Primary Microcephaly, Recessive"	6/14/2016	-8.4	2	BLB	3
157868	Simple	111487086	T	.	Conflict	1	3	"not specified;Primary Microcephaly, Recessive"	6/14/2016	-9.9	2.333333333	BLB	3
157912	Simple	140150599	C	.	Conflict	1	4	"not specified;Primary Microcephaly, Recessive"	6/14/2016	-13.8	1.75	BLB	3
157923	Simple	139927527	G	.	Conflict	1	4	"not specified;Primary Microcephaly, Recessive"	1/5/2017	-14.1	1.5	BLB	3
157924	Simple	34578730	T	.	Conflict	1	5	Dystonia 12;not specified;Alternating hemiplegia of childhood 2;Alternating hemiplegia of childhood	8/11/2017	-17.64	1.4	BLB	3
157954	Simple	114771537	A	.	Conflict	1	4	Wilson disease;not specified	8/21/2017	-17.1	1.25	BLB	3
158000	Simple	28910273	C	.	Conflict	1	3	not specified;not provided	11/30/2016	-8.4	1.666666667	BLB	3
158008	Simple	61748155	A	.	Conflict	1	5	Autosomal recessive centronuclear myopathy;not specified	7/11/2017	-20.1	2.2	BLB	3
158014	Simple	35535012	T	.	Conflict	1	5	Autosomal recessive centronuclear myopathy;not specified	7/3/2017	-9.78	1.6	BLB	3
158031	Simple	72736758	T	.	Conflict	1	3	Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17	7/11/2017	-12.3	0.666666667	BLB	3
158041	Simple	149313666	T	.	Conflict	1	5	Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17;not provided	7/14/2017	-14.94	1.4	BLB	3
158054	Simple	114126795	A	.	Conflict	1	3	Joubert syndrome;not specified	7/5/2016	-11.7	1.333333333	BLB	3
158055	Simple	77014998	T	.	Conflict	1	3	Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17	7/14/2017	-8.7	1.333333333	BLB	3
158172	Simple	76132121	C	.	Conflict	1	3	"not specified;Primary Microcephaly, Recessive"	6/14/2016	-9.3	2.666666667	BLB	3
158217	Simple	35498994	A	.	Conflict	1	4	"Seckel syndrome;not specified;not provided;Primary Microcephaly, Recessive"	6/14/2016	-15	2.25	BLB	3
158240	Simple	182018947	C	.	Conflict	1	6	Seckel syndrome 5;Primary autosomal recessive microcephaly 9;not provided;CEP152-Related Disorders	5/18/2017	26.1	1.833333333	P	3
158269	Simple	150910683	C	.	Conflict	1	4	"Seckel syndrome;not specified;Primary Microcephaly, Recessive"	6/8/2017	-9	1	BLB	3
158297	Simple	114996731	G	.	Conflict	1	5	CHARGE association;Hypogonadism with anosmia;not specified;not provided	8/11/2017	-13.98	2	BLB	3
158318	Simple	61742801	G	.	Conflict	1	3	CHARGE association;not specified	7/3/2017	-12.18	2	BLB	3
158330	Simple	55685423	C	.	Conflict	1	5	"Epilepsy, nocturnal frontal lobe, type 3;Autosomal dominant nocturnal frontal lobe epilepsy;not specified;not provided"	7/27/2017	-17.91	1.6	BLB	3
158780	Simple	73302197	A	.	Conflict	1	4	Kabuki syndrome 1;not specified;Kabuki syndrome	1/23/2017	-13.98	2.5	BLB	3
158808	Simple	8142483	T	.	Conflict	1	4	"Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome"	6/26/2017	-12.6	0.75	BLB	3
158856	Simple	45540031	G	.	Conflict	1	4	"not specified;not provided;Primary Microcephaly, Recessive"	10/31/2016	-11.7	1.25	BLB	3
158870	Simple	41313948	T	.	Conflict	1	4	"Primary autosomal recessive microcephaly 1;not specified;Primary Microcephaly, Recessive"	6/14/2016	-8.58	2.5	BLB	3
158882	Simple	587783744	CCTCCT	.	Conflict	1	3	Severe neonatal-onset encephalopathy with microcephaly;not specified	6/19/2017	-11.04	2	BLB	3
159030	Simple	2291703	G	.	Conflict	1	3	not specified;Cornelia de Lange Syndrome	6/14/2016	-9.3	2.666666667	BLB	3
159051	Simple	185678374	A	.	Conflict	1	4	Cornelia de Lange syndrome 1;not specified;not provided;Cornelia de Lange Syndrome	5/3/2017	-9.18	1.75	BLB	3
159260	Simple	34921128	T	.	Conflict	1	3	Sotos syndrome 1;not specified	3/31/2015	-10.38	3.333333333	BLB	3
159269	Simple	559617787	A	.	Conflict	1	4	Weaver syndrome;Sotos syndrome 1;not specified;Sotos Syndrome	6/14/2016	-8.88	2.25	BLB	3
159310	Simple	199814669	C	.	Conflict	1	5	Weaver syndrome;not specified;Sotos Syndrome	6/14/2016	-12.54	2.4	BLB	3
159467	Simple	143954823	G	.	Conflict	1	3	Joubert syndrome;Oral-facial-digital syndrome;not specified;not provided	4/20/2017	-9.24	1.333333333	BLB	3
159593	Simple	117987006	T	.	Conflict	1	4	not specified;Microcephalic Osteodysplastic Primordial Dwarfism	7/28/2017	-9.3	0.75	BLB	3
159599	Simple	62224222	T	.	Conflict	1	4	not specified;not provided;Microcephalic Osteodysplastic Primordial Dwarfism	1/24/2017	-12.3	2.25	BLB	3
159602	Simple	143796569	A	.	Conflict	1	4	not specified;Microcephalic Osteodysplastic Primordial Dwarfism	7/14/2016	-14.1	1.5	BLB	3
159617	Simple	61735808	A	.	Conflict	1	4	not specified;Microcephalic Osteodysplastic Primordial Dwarfism	6/14/2016	-9	1.25	BLB	3
159639	Simple	144471022	T	.	Conflict	1	4	not specified;not provided;Microcephalic Osteodysplastic Primordial Dwarfism	9/5/2017	-11.4	1.25	BLB	3
159662	Simple	61735819	T	.	Conflict	1	4	not specified;Microcephalic Osteodysplastic Primordial Dwarfism	6/14/2016	-13.5	3	BLB	3
159819	Simple	41277835	C	.	Conflict	1	5	"Robinow syndrome;Robinow syndrome, autosomal recessive;Brachydactyly;not specified;not provided"	5/15/2017	-14.64	1.4	BLB	3
159822	Simple	148237260	T	.	Conflict	1	4	"Robinow syndrome;Robinow syndrome, autosomal recessive;Brachydactyly;not specified"	6/14/2016	-11.58	2.25	BLB	3
159842	Simple	139363830	T	.	Conflict	1	6	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided"	9/30/2016	-16.8	1.666666667	BLB	3
159852	Simple	76537615	T	.	Conflict	1	7	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;Malignant hypothermia;RYR1-Related Disorders"	5/22/2017	-21.27	1	BLB	3
159856	Simple	200563280	T	.	Conflict	1	9	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Minicore myopathy with external ophthalmoplegia;not provided;Multi-minicore disease and atypical periodic paralysis;RYR1-Related Disorders"	6/24/2017	45	2.333333333	P	3
159870	Simple	3744824	T	.	Conflict	1	3	Schinzel-Giedion syndrome;not specified	3/29/2017	-9.18	2	BLB	3
159887	Simple	34098566	A	.	Conflict	1	3	Andermann syndrome;not specified	7/18/2016	-9.9	2.333333333	BLB	3
160020	Simple	142830725	G	.	Conflict	1	4	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	6/14/2016	-12.3	2.25	BLB	3
160022	Simple	72758823	A	.	Conflict	1	3	Early infantile epileptic encephalopathy 5;not specified;Early infantile epileptic encephalopathy	5/16/2017	-9.18	2	BLB	3
160032	Simple	149628651	T	.	Conflict	1	3	Floating-Harbor syndrome;not specified	7/13/2016	-9.18	2.333333333	BLB	3
160052	Simple	139912214	G	.	Conflict	1	5	not specified;not provided;Abnormality of brain morphology;Inborn genetic diseases	10/31/2017	-13.8	1.4	BLB	3
160063	Simple	142315727	C	.	Conflict	1	3	"not specified;Primary Microcephaly, Recessive"	6/14/2016	-8.7	3	BLB	3
160138	Simple	138719855	A	.	Conflict	1	3	Pontoneocerebellar hypoplasia;not specified	7/12/2017	-8.4	1.666666667	BLB	3
160241	Simple	4148327	C	.	Conflict	1	4	Lucey-Driscoll syndrome;Gilbert's syndrome;Crigler-Najjar syndrome;Hyperbilirubinemia	6/14/2016	-9.18	2	BLB	3
160295	Simple	61743589	A	.	Conflict	1	3	not specified;Primary Microcephaly 2 With or Without Cortical Malformations	12/20/2016	-9.9	2.333333333	BLB	3
160298	Simple	17851503	A	.	Conflict	1	3	Primary autosomal recessive microcephaly 2;not specified;Primary Microcephaly 2 With or Without Cortical Malformations	6/5/2017	-9.9	2	BLB	3
160308	Simple	12327568	G	.	Conflict	1	5	not specified;not provided;Primary Microcephaly 2 With or Without Cortical Malformations	9/7/2017	-12.9	1.6	BLB	3
161201	Simple	139142865	T	.	Conflict	1	4	Hereditary hemorrhagic telangiectasia type 2;not specified;Haemorrhagic telangiectasia 2	2/6/2017	-12.24	1.5	BLB	3
161206	Simple	147394539	T	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;Colorectal adenoma	9/5/2017	-12.3	0.25	BLB	3
161208	Simple	145910245	A	.	Conflict	1	4	"Hypokalemic periodic paralysis 1;Malignant hyperthermia, susceptibility to, 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;not specified"	7/31/2017	-9.3	0.5	BLB	3
161210	Simple	150528041	T	.	Conflict	1	4	Brugada syndrome 4;Brugada syndrome;not specified;not provided	7/14/2017	-8.4	1.25	BLB	3
161211	Simple	149253719	C	.	Conflict	1	4	Brugada syndrome 4;Early repolarization associated with ventricular fibrillation;not specified;not provided	4/11/2017	-8.4	1.5	BLB	3
161212	Simple	143326262	T	.	Conflict	1	5	Brugada syndrome 4;Brugada syndrome;not specified;not provided;Cardiovascular phenotype	7/28/2017	-11.4	1.2	BLB	3
161213	Simple	144182966	A	.	Conflict	1	5	Brugada syndrome 4;Brugada syndrome;not specified;not provided	8/11/2017	-8.64	1.6	BLB	3
161216	Simple	111391222	T	.	Conflict	1	6	"Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified;Aortic aneurysm"	3/21/2017	-14.91	1.5	BLB	3
161218	Simple	111840783	G	.	Conflict	1	6	"Ehlers-Danlos syndrome, type 4;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;not provided"	10/27/2017	-15.3	0.333333333	BLB	3
161220	Simple	370644567	G	.	Conflict	1	3	"Becker muscular dystrophy;not specified;not provided;Exertional myalgia, muscle stiffness and myoglobinuria"	6/27/2017	8.7	0.333333333	PLP	3
161221	Simple	189143447	T	.	Conflict	1	3	Becker muscular dystrophy;Duchenne muscular dystrophy;not specified;not provided	7/18/2017	-8.7	1.333333333	BLB	3
161225	Simple	377715841	A	.	Conflict	1	6	"Primary dilated cardiomyopathy;Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	9/21/2016	-12.54	1.333333333	BLB	3
161226	Simple	148147581	A	.	Conflict	1	8	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;Keratosis palmoplantaris striata II;not specified;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;Cardiomyopathy, ARVC"	7/11/2017	-13.14	1	BLB	3
161231	Simple	116330805	T	.	Conflict	1	5	Osler hemorrhagic telangiectasia syndrome;not specified;Haemorrhagic telangiectasia 1;Juvenile Polyposis	7/28/2017	-24	0.8	B	3
161232	Simple	139398993	A	.	Conflict	1	5	Osler hemorrhagic telangiectasia syndrome;not specified;Haemorrhagic telangiectasia 1	7/24/2017	-17.04	1.6	BLB	3
161244	Simple	146726731	T	.	Conflict	1	11	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	4/21/2017	-24.9	0.909090909	B	3
161259	Simple	115585711	A	.	Conflict	1	3	Gastrointestinal stromal tumor;not provided;Piebaldism	8/19/2017	-9.24	1	BLB	3
161267	Simple	146200173	G	.	Conflict	1	5	Familial hypercholesterolemia;not provided;Hypercholesterolaemia	6/3/2017	11.43	1	PLP	3
161268	Simple	368657165	A	.	Conflict	1	6	Familial hypercholesterolemia;Hypercholesterolaemia	3/30/2017	16.8	1.333333333	P	3
161272	Simple	147509697	A	.	Conflict	1	7	Familial hypercholesterolemia;not provided;Hypercholesterolaemia	6/19/2017	-13.05	1.571428571	BLB	3
161274	Simple	139361635	A	.	Conflict	1	7	Familial hypercholesterolemia;not specified;not provided;Hypercholesterolaemia	7/18/2017	-16.08	1.428571429	BLB	3
161276	Simple	368562025	T	.	Conflict	1	5	Familial hypercholesterolemia;not provided;Hypercholesterolaemia	5/18/2017	8.43	1	PLP	3
161277	Simple	144614838	A	.	Conflict	1	8	Familial hypercholesterolemia;Hypercholesterolaemia	3/30/2017	13.59	1.375	PLP	3
161279	Simple	143992984	A	.	Conflict	1	7	Familial hypercholesterolemia;not provided;Hypercholesterolaemia	3/30/2017	-13.8	1.428571429	BLB	3
161284	Simple	139624145	A	.	Conflict	1	6	Familial hypercholesterolemia;not provided;Hypercholesterolaemia	3/30/2017	26.7	1	P	3
161285	Simple	373646964	A	.	Conflict	1	7	Familial hypercholesterolemia;not provided;Hypercholesterolaemia	3/30/2017	14.19	1.285714286	PLP	3
161287	Simple	139043155	A	.	Conflict	1	9	Familial hypercholesterolemia;not provided;Hypercholesterolaemia	9/11/2017	32.16	1.111111111	P	3
161290	Simple	373371572	T	.	Conflict	1	6	Familial hypercholesterolemia;not provided;Hypercholesterolaemia	6/16/2017	14.46	1	PLP	3
161303	Simple	200352299	T	.	Conflict	1	5	Familial hypertrophic cardiomyopathy 4;Primary familial hypertrophic cardiomyopathy;not specified;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy	7/5/2017	-12.24	1.2	BLB	3
161311	Simple	193068692	A	.	Conflict	1	10	"Dilated cardiomyopathy 1A;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/18/2017	-24.81	1.6	B	3
161317	Simple	150759461	A	.	Conflict	1	5	"Aortic aneurysm, familial thoracic 4;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Altered myosin contractile function"	7/3/2017	-9.6	0.4	BLB	3
161346	Simple	41267007	T	.	Conflict	1	3	"Protein S deficiency;Thrombophilia due to protein S deficiency, autosomal recessive"	8/6/2016	-9.24	1.666666667	BLB	3
161362	Simple	147336515	A	.	Conflict	1	6	"Central core disease;Congenital myopathy;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	8/9/2017	-15.3	0.833333333	BLB	3
161364	Simple	146504767	A	.	Conflict	1	11	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;Malignant hyperthermia;RYR1-Related Disorders"	6/29/2017	-26.37	1.272727273	B	3
161365	Simple	200950673	G	.	Conflict	1	8	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;Axial myopathy, late-onset;RYR1-Related Disorders"	3/16/2017	-15.87	1	BLB	3
161366	Simple	139647387	G	.	Conflict	1	5	"Central core disease;Congenital myopathy;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;Malignant hypothermia"	6/14/2016	-12.24	1.4	BLB	3
161394	Simple	112215250	A	.	Conflict	1	8	Marfan syndrome;Congenital aneurysm of ascending aorta;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	8/8/2017	-23.94	1.25	BLB	3
161396	Simple	368861241	A	.	Conflict	1	4	Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy	7/17/2017	10.89	2.25	PLP	3
161399	Simple	145470784	A	.	Conflict	1	3	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/11/2017	-9.3	0.666666667	BLB	3
161516	Simple	193920774	T	.	Conflict	1	2	Liver cancer;Chronic lymphocytic leukemia;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Malignant tumor of prostate;Small cell lung cancer;Adenocarcinoma of lung;Squamous cell carcinoma of lung;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Uterine Carcinosarcoma	10/7/2016	9	1	PLP	3
162048	Simple	556445621	A	.	Conflict	1	4	Perrault syndrome 5;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome	6/14/2016	-12	1	BLB	3
162526	Simple	62215499	A	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided	7/31/2017	-16.8	1	BLB	3
162529	Simple	140534207	G	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified	8/2/2017	-15.27	1	BLB	3
162568	Simple	116105846	T	.	Conflict	1	6	not specified;Cardiovascular phenotype;Walker-Warburg congenital muscular dystrophy	7/25/2017	-23.7	1	BLB	3
162586	Simple	146097254	A	.	Conflict	1	6	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive"	8/1/2017	-18	0.666666667	BLB	3
162688	Simple	141281214	T	.	Conflict	1	4	Dilated cardiomyopathy 1O;not specified;not provided	7/31/2017	-11.37	1.75	BLB	3
162724	Simple	368367224	A	.	Conflict	1	4	"not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/14/2016	-8.4	1.75	BLB	3
162774	Simple	141355480	T	.	Conflict	1	4	"Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified"	2/24/2017	-11.4	1.75	BLB	3
162933	Simple	369946986	A	.	Conflict	1	5	"Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-9	1.6	BLB	3
162997	Simple	41268014	G	.	Conflict	1	8	"Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant"	1/13/2017	-18.27	1.25	BLB	3
163072	Simple	200220260	G	.	Conflict	1	3	"Deafness, autosomal dominant 1;not specified;Seizures, cortical blindness, and microcephaly syndrome;Nonsyndromic Hearing Loss, Mixed"	4/5/2017	-9.21	1.666666667	BLB	3
163082	Simple	112051327	C	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	7/28/2017	-9.9	2	BLB	3
163116	Simple	35865357	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/3/2017	-9.9	2	BLB	3
163117	Simple	72657373	G	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/11/2017	-11.7	1	BLB	3
163118	Simple	72657389	T	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/21/2017	-9	0.666666667	BLB	3
163236	Simple	188516326	G	.	Conflict	1	7	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	7/20/2017	-18.54	1.142857143	BLB	3
163266	Simple	535202724	T	.	Conflict	1	5	"Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	6/14/2016	-12.21	1.6	BLB	3
163287	Simple	116888866	A	.	Conflict	1	10	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype;Dysplasia, arrhythmogenic right ventricular;Cardiomyopathy, ARVC"	5/9/2017	-36.9	1.3	B	3
163289	Simple	201397978	C	.	Conflict	1	8	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;not provided;Cardiomyopathy, ARVC"	6/3/2017	-23.04	1.625	BLB	3
163303	Simple	191746041	T	.	Conflict	1	4	Dysferlinopathy;not specified	7/18/2017	-9.21	1.75	BLB	3
163424	Simple	201726554	T	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	4/10/2017	-11.7	1	BLB	3
164098	Simple	727503195	T	.	Conflict	1	5	Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype	5/17/2017	14.13	1.4	PLP	3
164258	Simple	150574114	T	.	Conflict	1	8	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/24/2017	-26.7	1.75	B	3
164259	Simple	141014719	T	.	Conflict	1	7	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/24/2017	-21.3	1.714285714	BLB	3
164261	Simple	183611755	T	.	Conflict	1	6	"Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	11/21/2016	-15.9	1.833333333	BLB	3
164304	Simple	192722540	A	.	Conflict	1	9	"Myosin storage myopathy;Myopathy, distal, 1;not specified;Hypertrophic cardiomyopathy;Scapuloperoneal myopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	4/14/2017	-18.84	1	BLB	3
164324	Simple	2754158	A	.	Conflict	1	5	Familial hypertrophic cardiomyopathy 1;not specified;not provided;Hypertrophic cardiomyopathy;Myopathy	8/1/2017	11.52	1.8	PLP	3
164401	Simple	727503278	A	.	Conflict	1	4	Familial hypertrophic cardiomyopathy 1;not specified;not provided;Hypertrophic cardiomyopathy	3/22/2017	8.52	1.75	PLP	3
164435	Simple	139134727	A	.	Conflict	1	5	"not specified;MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant"	3/8/2017	-10.2	1.6	BLB	3
164566	Simple	147458358	G	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	9/14/2016	-9.9	2.333333333	BLB	3
164771	Simple	368268112	C	.	Conflict	1	3	Primary dilated cardiomyopathy;not specified	3/31/2017	-8.7	1	BLB	3
164963	Simple	143900944	C	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;not provided"	4/24/2017	-9.21	1.5	BLB	3
165059	Simple	41289942	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/12/2017	-9.9	2	BLB	3
165111	Simple	116442127	T	.	Conflict	1	4	"not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	7/27/2017	-10.2	1.75	BLB	3
165135	Simple	45437099	A	.	Conflict	1	9	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	6/14/2016	-9.3	1.444444444	BLB	3
165155	Simple	41313693	T	.	Conflict	1	9	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	7/26/2017	-11.7	1.333333333	BLB	3
165156	Simple	41313703	G	.	Conflict	1	9	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	7/26/2017	-11.7	1.333333333	BLB	3
165272	Simple	141952919	G	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-9.3	2.666666667	BLB	3
165381	Simple	11466445	-	.	Conflict	1	13	Loeys-Dietz syndrome 1;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	8/21/2017	-61.77	1.923076923	B	3
165614	Simple	138139146	A	.	Conflict	1	4	not specified	9/15/2017	-11.4	2.5	BLB	3
165715	Simple	373871146	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/3/2017	-20.4	1.454545455	BLB	3
165819	Simple	140942979	T	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	8/4/2017	-10.47	2.5	BLB	3
165840	Simple	543318580	-	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/4/2017	-8.97	1	BLB	3
165912	Simple	184863287	G	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype"	7/27/2017	-13.47	2	BLB	3
165925	Simple	6706088	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/25/2017	-15.6	1.9	BLB	3
166002	Simple	372635204	A	.	Conflict	1	10	"Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/5/2017	-15.87	1.3	BLB	3
166100	Simple	368781863	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/4/2017	-11.1	1.25	BLB	3
166119	Simple	368973334	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	7/7/2017	-8.7	1.25	BLB	3
166133	Simple	202160275	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/16/2017	-10.59	1.727272727	BLB	3
166306	Simple	374620001	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/25/2017	-21.6	1.090909091	BLB	3
166356	Simple	148094198	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/25/2017	-16.8	1.444444444	BLB	3
166434	Simple	199605265	T	.	Conflict	1	4	"Usher syndrome, type 2A;Retinitis pigmentosa;Retinitis pigmentosa 39;not specified;not provided"	2/23/2017	13.56	2	PLP	3
166536	Simple	143702799	G	.	Conflict	1	4	"Dilated cardiomyopathy 1W;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	8/4/2017	-13.5	2	BLB	3
166616	Simple	113106943	T	.	Conflict	1	7	"Stargardt disease 1;not specified;not provided;Cone/cone-rod dystrophy;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	10/14/2016	-9.81	1.571428571	BLB	3
166642	Simple	144996066	T	.	Conflict	1	5	Very long chain acyl-CoA dehydrogenase deficiency;not specified	7/11/2017	-21.9	1.6	BLB	3
166675	Simple	180849348	G	.	Conflict	1	5	"Congenital disorder of glycosylation type 1I;Congenital disorder of glycosylation;not specified;not provided;Myasthenic syndrome, congenital, 14"	8/29/2017	-17.1	1	BLB	3
166676	Simple	79144888	A	.	Conflict	1	4	Congenital disorder of glycosylation type 1D;Congenital disorder of glycosylation;not specified	9/29/2016	-13.2	2	BLB	3
166677	Simple	17825668	G	.	Conflict	1	4	Congenital disorder of glycosylation type 1H;Congenital disorder of glycosylation;not specified	5/25/2017	-15.9	1.75	BLB	3
166767	Simple	1051360	T	.	Conflict	1	5	Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype	8/4/2017	-14.94	1.4	BLB	3
166769	Simple	186741807	T	.	Conflict	1	4	Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified	3/16/2017	-12.24	1.25	BLB	3
166793	Simple	28364543	C	.	Conflict	1	5	"Limb-girdle muscular dystrophy, type 2A;not specified;Limb-Girdle Muscular Dystrophy, Recessive"	7/11/2017	-17.4	1.2	BLB	3
166794	Simple	76106850	T	.	Conflict	1	3	"Mental retardation, CASK-related, X-linked;not specified"	3/28/2017	-9.24	1.333333333	BLB	3
166863	Simple	201341211	A	.	Conflict	1	4	Duchenne muscular dystrophy;not specified;not provided	5/18/2017	-11.64	1.75	BLB	3
166869	Simple	528130317	G	.	Conflict	1	4	CHARGE association;Hypogonadism with anosmia;not specified	6/29/2017	-12.21	1.5	BLB	3
166900	Simple	150814269	T	.	Conflict	1	6	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;not provided;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive"	7/11/2017	-22.5	1.166666667	BLB	3
166910	Simple	56356283	T	.	Conflict	1	5	Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome	7/18/2017	-12.3	1	BLB	3
166922	Simple	147637674	T	.	Conflict	1	4	"Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant"	6/14/2016	-9.24	1.5	BLB	3
166926	Simple	35504014	A	.	Conflict	1	4	"Type II Collagenopathies;not specified;Stickler Syndrome, Dominant"	11/18/2016	-12	1.25	BLB	3
166938	Simple	202092407	A	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Inborn genetic diseases	5/12/2017	-14.91	1.6	BLB	3
166946	Simple	113781746	A	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided	6/9/2017	-14.4	1	BLB	3
166947	Simple	76646066	A	.	Conflict	1	3	Bethlem myopathy 1;Collagen VI-related myopathy;not specified	6/7/2017	-9.21	1.666666667	BLB	3
166948	Simple	137910388	T	.	Conflict	1	3	Bethlem myopathy 1;Collagen VI-related myopathy;not specified	12/7/2016	-9.24	1.666666667	BLB	3
166986	Simple	75225632	A	.	Conflict	1	3	Smith-Lemli-Opitz syndrome;not specified	7/17/2017	-10.5	1.666666667	BLB	3
166998	Simple	117064287	G	.	Conflict	1	4	Primary ciliary dyskinesia;not specified	8/15/2017	-17.1	1.25	BLB	3
167000	Simple	150631721	T	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	6/14/2016	-8.7	3	BLB	3
167001	Simple	146362213	G	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	6/14/2016	-8.7	3	BLB	3
167090	Simple	786200975	GCCGCC	.	Conflict	1	5	"Rett syndrome, congenital variant;not specified;not provided"	8/11/2017	-9.57	1	BLB	3
167131	Simple	200833152	G	.	Conflict	1	5	Cerebral creatine deficiency syndrome;not specified;not provided	8/11/2017	-17.34	1.6	BLB	3
167208	Simple	727503974	A	.	Conflict	1	3	Early infantile epileptic encephalopathy 7;not specified;not provided	10/20/2016	10.59	2.666666667	PLP	3
167241	Simple	118147866	T	.	Conflict	1	5	"Laminin alpha 2-related dystrophy;not specified;not provided;Congenital Muscular Dystrophy, LAMA2-related"	6/22/2017	-19.2	1.6	BLB	3
167244	Simple	573779258	T	.	Conflict	1	3	"not specified;Congenital Muscular Dystrophy, LAMA2-related"	7/12/2016	-12.3	1	BLB	3
167250	Simple	74550830	T	.	Conflict	1	7	"Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome"	6/30/2017	-19.5	1.285714286	BLB	3
167268	Simple	34749281	T	.	Conflict	1	3	3 Methylcrotonyl-CoA carboxylase 1 deficiency;not specified;3-MCC Deficiency	3/22/2017	-10.5	1.666666667	BLB	3
167303	Simple	74315394	A	.	Conflict	1	3	Bardet-Biedl syndrome;McKusick Kaufman syndrome;not specified;not provided	8/15/2017	-9.21	1.666666667	BLB	3
167340	Simple	114076205	A	.	Conflict	1	4	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	8/7/2017	-15.9	1.75	BLB	3
167341	Simple	112958786	A	.	Conflict	1	4	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	6/13/2017	-13.5	1.5	BLB	3
167350	Simple	139029314	T	.	Conflict	1	4	Lafora disease;not specified	6/8/2017	-9.54	0.75	BLB	3
167369	Simple	192633696	G	.	Conflict	1	6	Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified	7/28/2017	-17.1	1.333333333	BLB	3
167378	Simple	34391943	T	.	Conflict	1	7	Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified;not provided	8/1/2017	-19.8	1.428571429	BLB	3
167379	Simple	141477666	A	.	Conflict	1	3	Nephronophthisis;not specified	6/27/2017	-9	0.666666667	BLB	3
167389	Simple	144049982	C	.	Conflict	1	4	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	8/16/2017	-9	0.75	BLB	3
167475	Simple	148932323	A	.	Conflict	1	5	Autosomal recessive polycystic kidney disease;not specified;not provided	5/4/2017	-14.7	1.4	BLB	3
167484	Simple	140065359	A	.	Conflict	1	3	Autosomal recessive polycystic kidney disease;not specified	9/21/2016	-10.5	2	BLB	3
167510	Simple	201430180	T	.	Conflict	1	5	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy"	9/25/2017	-17.4	0.6	BLB	3
167515	Simple	528031000	-	.	Conflict	1	4	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	8/11/2017	-9.3	0.25	BLB	3
167582	Simple	41275239	A	.	Conflict	1	6	"Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive"	6/1/2017	-20.4	1	BLB	3
167585	Simple	143213152	T	.	Conflict	1	4	"Lissencephaly 2;not specified;not provided;Epilepsy, familial temporal lobe, 7"	10/9/2017	-14.4	1	BLB	3
167606	Simple	561414163	C	.	Conflict	1	3	Joubert syndrome;Meckel-Gruber syndrome;not specified	8/7/2017	-12.21	1.666666667	BLB	3
167624	Simple	143861818	T	.	Conflict	1	8	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders"	10/31/2017	-25.5	1.125	B	3
167631	Simple	117180147	C	.	Conflict	1	6	"not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	8/15/2017	-23.61	1.5	BLB	3
167633	Simple	141521563	A	.	Conflict	1	4	"Oguchi's disease;not specified;not provided;Retinitis Pigmentosa, Recessive"	11/7/2016	-8.4	1.5	BLB	3
167720	Simple	200543425	G	.	Conflict	1	3	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	6/14/2017	-9.27	1	BLB	3
167754	Simple	727504184	A	.	Conflict	1	7	"Primary dilated cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;Familial hypertrophic cardiomyopathy 9"	10/8/2014	14.16	3	PLP	3
167775	Simple	727504190	C	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	7/19/2017	-9.3	0.666666667	BLB	3
167778	Simple	187366691	A	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	10/2/2017	-9.24	1	BLB	3
167825	Simple	80028865	T	.	Conflict	1	4	Wagner syndrome;not specified;Vitreoretinopathy	6/14/2016	-9.21	1.75	BLB	3
177623	Simple	727504236	C	.	Conflict	1	3	not specified;Hypertrophic cardiomyopathy	2/9/2017	8.52	2.666666667	PLP	3
177631	Simple	727504243	A	.	Conflict	1	4	Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy	8/21/2017	11.16	1.5	PLP	3
177677	Simple	36212066	.	.	Conflict	1	5	Primary familial hypertrophic cardiomyopathy;not specified;Left ventricular noncompaction 10;Hypertrophic cardiomyopathy	8/8/2017	13.5	1.2	PLP	3
177736	Simple	376898963	A	.	Conflict	1	6	"Hystrix-like ichthyosis with deafness;not specified;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-14.64	1.666666667	BLB	3
177781	Simple	142494121	A	.	Conflict	1	9	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;not provided;Cardiomyopathy, ARVC"	8/8/2017	-20.28	1.777777778	BLB	3
177810	Simple	148176750	G	.	Conflict	1	6	Loeys-Dietz syndrome 1;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	5/26/2017	-12.45	2.166666667	BLB	3
177973	Simple	143269044	G	.	Conflict	1	3	not specified;Dilated cardiomyopathy 1JJ	4/6/2017	-8.67	1.333333333	BLB	3
178007	Simple	145393807	T	.	Conflict	1	7	"Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;not provided"	7/24/2017	-19.8	1.142857143	BLB	3
178013	Simple	149787233	A	.	Conflict	1	5	"Alpha-B crystallinopathy;not specified;Posterior polar cataract;Myofibrillar Myopathy, Dominant"	7/1/2016	-9.51	1.6	BLB	3
178015	Simple	144261171	A	.	Conflict	1	9	"Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant"	7/26/2017	-13.41	1.111111111	BLB	3
178016	Simple	367961979	A	.	Conflict	1	6	"Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant"	6/14/2017	-12.51	1.333333333	BLB	3
178022	Simple	149617776	T	.	Conflict	1	6	"Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;not provided;Cardiomyopathy, ARVC;Dilated Cardiomyopathy, Dominant"	8/21/2017	-14.1	1.5	BLB	3
178030	Simple	138907450	C	.	Conflict	1	8	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	4/3/2017	-13.14	1.125	BLB	3
178032	Simple	147415451	A	.	Conflict	1	9	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;not provided;Cardiomyopathy, ARVC"	8/4/2017	-22.74	1.666666667	BLB	3
178076	Simple	148091079	T	.	Conflict	1	5	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/14/2016	-9.3	1.4	BLB	3
178080	Simple	368734580	A	.	Conflict	1	4	not specified;Hypertrophic cardiomyopathy	7/24/2017	-11.34	2	BLB	3
178103	Simple	374260457	A	.	Conflict	1	5	"Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	2/20/2017	-11.1	1.8	BLB	3
178104	Simple	142739534	A	.	Conflict	1	4	Noonan syndrome;not specified;not provided;Rasopathy	7/25/2017	-11.1	1.75	BLB	3
178106	Simple	368740836	T	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Cardiovascular phenotype"	7/26/2017	-9.24	1	BLB	3
178141	Simple	138790561	T	.	Conflict	1	4	"Loeys-Dietz syndrome 2;not specified;not provided;Dilated Cardiomyopathy, Dominant"	8/5/2017	-8.64	2	BLB	3
178143	Simple	145703021	C	.	Conflict	1	5	"Loeys-Dietz syndrome 2;not specified;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/20/2017	-14.4	1.2	BLB	3
178146	Simple	202228866	T	.	Conflict	1	5	Catecholaminergic polymorphic ventricular tachycardia type 1;not specified;Hypertrophic cardiomyopathy	5/27/2017	-16.71	2.2	BLB	3
178150	Simple	377439315	G	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/2/2017	-20.1	1.545454545	BLB	3
178153	Simple	201218828	G	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Cardiovascular phenotype"	6/14/2017	-10.5	1.8	BLB	3
178158	Simple	201246720	C	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype"	6/9/2017	-11.07	1.8	BLB	3
178162	Simple	368686031	T	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/28/2017	-15.27	1.454545455	BLB	3
178164	Simple	199805060	A	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/25/2017	-14.28	2.090909091	BLB	3
178182	Simple	187270666	T	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	7/10/2017	-11.64	1.666666667	BLB	3
178186	Simple	186402008	T	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/4/2017	-11.1	1.25	BLB	3
178197	Simple	79406408	A	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	5/16/2017	-11.4	1.333333333	BLB	3
178198	Simple	375538420	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	1/20/2017	-12.6	1.333333333	BLB	3
178211	Simple	72677223	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	7/18/2017	-10.77	1.75	BLB	3
178219	Simple	186699871	C	.	Conflict	1	12	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/26/2017	-25.2	1.75	B	3
178227	Simple	150733188	G	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/25/2017	-10.38	3.25	BLB	3
178244	Simple	202089818	A	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/27/2017	-12	1.4	BLB	3
178246	Simple	142794598	G	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	7/24/2017	-11.04	1.8	BLB	3
178278	Simple	185921345	T	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	4/24/2017	-14.67	1.5	BLB	3
178290	Simple	142905621	A	.	Conflict	1	3	Renal tubular acidosis with progressive nerve deafness;not specified	3/18/2016	-8.7	3	BLB	3
178315	Simple	144688588	C	.	Conflict	1	7	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.81	1.428571429	BLB	3
178317	Simple	377118941	T	.	Conflict	1	9	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;not specified;Atypical Gaucher Disease;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-21	1.333333333	BLB	3
178339	Simple	185220846	C	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-11.1	1.666666667	BLB	3
178407	Simple	139854607	G	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-8.7	3	BLB	3
178704	Simple	75248449	C	.	Conflict	1	3	Hermansky-Pudlak syndrome;Hermansky Pudlak syndrome 2;not specified	8/11/2017	-9.9	2	BLB	3
178710	Simple	117203086	C	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/11/2017	-9.9	2	BLB	3
178722	Simple	72655977	T	.	Conflict	1	4	Primary ciliary dyskinesia;not specified	7/27/2017	-15.3	2	BLB	3
178729	Simple	72657374	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/14/2017	-9.9	2	BLB	3
178754	Simple	115004914	T	.	Conflict	1	4	Primary ciliary dyskinesia;not specified	7/24/2017	-16.5	1.5	BLB	3
178758	Simple	139640247	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/14/2017	-9.9	2	BLB	3
178767	Simple	16937932	T	.	Conflict	1	4	"Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome"	8/4/2017	-10.2	1.75	BLB	3
178801	Simple	117169123	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/7/2017	-9.9	2	BLB	3
179010	Simple	553668520	A	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	2/25/2017	-20.31	2	BLB	3
179011	Simple	370509593	A	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 10;not specified;not provided"	7/24/2017	-11.91	1.5	BLB	3
179022	Simple	201016285	T	.	Conflict	1	7	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/31/2017	-20.4	1.428571429	BLB	3
179026	Simple	149930872	A	.	Conflict	1	10	"Primary dilated cardiomyopathy;Becker muscular dystrophy;Arrhythmogenic right ventricular cardiomyopathy, type 9;Duchenne muscular dystrophy;Brugada syndrome;not specified;Dilated cardiomyopathy 3B;not provided"	8/1/2017	-12	0.9	BLB	3
179034	Simple	202000367	T	.	Conflict	1	4	"Dilated cardiomyopathy 1Z;Familial hypertrophic cardiomyopathy 13;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	7/31/2017	-9	1.25	BLB	3
179039	Simple	369855092	T	.	Conflict	1	9	"Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/14/2016	-13.41	1.444444444	BLB	3
179046	Simple	186563991	C	.	Conflict	1	11	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/11/2017	-24	1.363636364	B	3
179055	Simple	371496970	C	.	Conflict	1	3	not specified	3/25/2016	-11.61	2.333333333	BLB	3
179056	Simple	185962498	T	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	7/20/2017	-8.97	1.333333333	BLB	3
179419	Simple	552951988	A	.	Conflict	1	5	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype"	8/2/2017	-23.01	1.8	BLB	3
179522	Simple	727504922	-	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/16/2017	-21	1.2	BLB	3
179544	Simple	558830502	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/31/2017	-13.2	1	BLB	3
179551	Simple	201255023	G	.	Conflict	1	3	Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified	8/3/2017	-9.24	1.333333333	BLB	3
179813	Simple	538707712	A	.	Conflict	1	9	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	4/21/2017	-10.5	1.111111111	BLB	3
179991	Simple	535581825	A	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified;Cardiomyopathy, ARVC"	6/30/2017	-12	1	BLB	3
180028	Simple	369503828	C	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	4/14/2017	-13.2	1.111111111	BLB	3
180262	Simple	139965373	A	.	Conflict	1	4	Long QT syndrome 11;Long QT syndrome;Romano-Ward syndrome;not provided;Ventricular fibrillation	7/20/2017	-8.7	1.5	BLB	3
180263	Simple	151021935	G	.	Conflict	1	5	Sudden cardiac death;Long QT syndrome;Romano-Ward syndrome;not specified;not provided	10/17/2016	-8.4	1.8	BLB	3
180269	Simple	35249198	T	.	Conflict	1	4	Long QT syndrome;not specified	7/20/2017	-16.5	1.5	BLB	3
180280	Simple	541497967	-	.	Conflict	1	7	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/1/2017	-18.84	1	BLB	3
180288	Simple	151327713	G	.	Conflict	1	3	Brugada syndrome;not specified;Cardiac arrest;Cardiovascular phenotype	10/10/2017	-12.3	0	BLB	3
180314	Simple	201302282	T	.	Conflict	1	5	Primary dilated cardiomyopathy;Duchenne muscular dystrophy;not specified	3/2/2017	-12.57	1.2	BLB	3
180318	Simple	142410803	A	.	Conflict	1	3	"Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy;not specified"	8/11/2017	-14.7	1	BLB	3
180319	Simple	377272752	-	.	Conflict	1	5	"Arrhythmogenic right ventricular cardiomyopathy, type 11;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiovascular phenotype"	8/11/2017	-15.48	2.4	BLB	3
180330	Simple	200243976	T	.	Conflict	1	6	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Arrhythmogenic right ventricular cardiomyopathy;not specified;Cardiomyopathy, ARVC"	7/31/2017	-12.6	0.833333333	BLB	3
180418	Simple	137934837	T	.	Conflict	1	5	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified"	9/12/2017	-9.57	0.4	BLB	3
180489	Simple	561321743	C	.	Conflict	1	3	Primary familial hypertrophic cardiomyopathy;not specified;Catecholaminergic polymorphic ventricular tachycardia	7/13/2017	-11.7	1	BLB	3
180508	Simple	72558029	A	.	Conflict	1	10	"Cardiac conduction defect, nonspecific;Brugada syndrome 5;Long QT syndrome;Generalized epilepsy with febrile seizures plus;Brugada syndrome;not specified;not provided;Cardiovascular phenotype"	7/20/2017	-34.11	1.7	B	3
180509	Simple	72558026	A	.	Conflict	1	3	Brugada syndrome 5;not specified;not provided;Ventricular fibrillation	6/19/2017	-9.21	1.666666667	BLB	3
180563	Simple	56355369	C	.	Conflict	1	2	Progressive familial heart block type 1B;not specified;Ventricular fibrillation	7/10/2017	-12	0.5	BLB	3
180694	Simple	77613865	G	.	Conflict	1	2	not specified;Hypertrophic cardiomyopathy	7/18/2017	-10.8	1.5	BLB	3
181401	Simple	730880922	C	.	Conflict	1	3	not specified;not provided;Hypertrophic cardiomyopathy	3/12/2017	8.7	2.333333333	PLP	3
181711	Simple	201881288	T	.	Conflict	1	3	Mowat-Wilson syndrome;not specified	5/4/2017	-9.3	0.666666667	BLB	3
181761	Simple	146394306	C	.	Conflict	1	4	Mowat-Wilson syndrome;not specified;not provided	7/20/2017	-9.3	0.25	BLB	3
181850	Simple	147934285	G	.	Conflict	1	5	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	9/21/2017	-15.6	1.6	BLB	3
182030	Simple	150354152	T	.	Conflict	1	5	Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome	8/8/2017	-19.5	1.6	BLB	3
182282	Simple	527732001	-	.	Conflict	1	9	Fanconi anemia;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome	8/8/2017	-28.14	1.555555556	B	3
182296	Simple	149769332	G	.	Conflict	1	4	Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome	7/19/2017	-11.04	1.75	BLB	3
182357	Simple	113052745	T	.	Conflict	1	4	Fanconi anemia;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome	9/27/2016	-8.4	1.5	BLB	3
182363	Simple	730881641	-	.	Conflict	1	6	"Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	6/14/2016	-17.4	1.333333333	BLB	3
182377	Simple	730881654	C	.	Conflict	1	7	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	8/7/2017	-19.2	1.571428571	BLB	3
182541	Simple	373076967	A	.	Conflict	1	6	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/19/2017	-16.5	1.5	BLB	3
182547	Simple	3218740	A	.	Conflict	1	7	Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome	8/8/2017	-18.6	1.714285714	BLB	3
182549	Simple	137868143	G	.	Conflict	1	6	Ataxia-telangiectasia-like disorder 1;not specified;Hereditary cancer-predisposing syndrome	7/19/2017	-18.6	1.833333333	BLB	3
182643	Simple	730881802	T	.	Conflict	1	8	Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/21/2017	-21.9	1.375	BLB	3
182668	Simple	730881819	A	.	Conflict	1	4	Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	6/15/2017	-10.8	1.5	BLB	3
182670	Simple	730881820	A	.	Conflict	1	5	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/2/2017	-11.4	0.8	BLB	3
182691	Simple	730881833	T	.	Conflict	1	5	MYH-associated polyposis;not provided;Hereditary cancer-predisposing syndrome	7/28/2017	14.7	0.2	PLP	3
182699	Simple	730881838	A	.	Conflict	1	6	MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome	7/18/2017	-16.2	1.666666667	BLB	3
182706	Simple	121908974	A	.	Conflict	1	5	"Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome"	8/3/2017	-13.47	1.8	BLB	3
182749	Simple	367979106	T	.	Conflict	1	3	Familial cancer of breast;not specified;not provided;Hereditary cancer-predisposing syndrome	7/9/2017	-10.8	1.333333333	BLB	3
182790	Simple	75023630	A	.	Conflict	1	8	Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-22.77	1.375	BLB	3
182869	Simple	539739051	T	.	Conflict	1	8	Myhre syndrome;Juvenile polyposis syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Carcinoma of pancreas;Osler hemorrhagic telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis	11/3/2017	-10.5	0.375	BLB	3
182877	Simple	372511774	T	.	Conflict	1	7	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	7/18/2017	-15.87	1.857142857	BLB	3
182880	Simple	730881961	T	.	Conflict	1	5	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	5/15/2017	-13.47	1.8	BLB	3
182882	Simple	532889728	A	.	Conflict	1	5	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	8/7/2017	-11.1	1.2	BLB	3
182935	Simple	730882005	T	.	Conflict	1	3	Liver cancer;Chronic lymphocytic leukemia;Multiple myeloma;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Li-Fraumeni syndrome;not specified;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Uterine cervical neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Uterine Carcinosarcoma	7/13/2017	8.7	0.333333333	PLP	3
182945	Simple	202217267	A	.	Conflict	1	5	Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome	7/12/2017	-14.1	1	BLB	3
183072	Simple	730882130	C	.	Conflict	1	5	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome	12/29/2016	-11.7	1.4	BLB	3
183075	Simple	63750555	G	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/31/2017	-8.4	1.25	BLB	3
183097	Simple	148698650	A	.	Conflict	1	8	Familial hypercholesterolemia;not provided	4/24/2017	-12.54	1	BLB	3
183105	Simple	544453230	A	.	Conflict	1	5	Familial hypercholesterolemia;not specified;not provided	3/30/2017	8.43	1.2	PLP	3
183106	Simple	730882096	A	.	Conflict	1	7	Familial hypercholesterolemia;not provided	10/5/2017	14.19	1.142857143	PLP	3
183116	Simple	730882102	T	.	Conflict	1	5	Familial hypercholesterolemia;not provided	8/29/2017	12	0.8	PLP	3
183120	Simple	730882106	T	.	Conflict	1	6	Familial hypercholesterolemia;not specified;not provided	5/29/2017	20.7	0.5	P	3
183138	Simple	11669576	A	.	Conflict	1	11	Familial hypercholesterolemia;not specified;not provided	8/18/2017	-55.8	0.818181818	B	3
183253	Simple	6533526	A	.	Conflict	1	7	"Anterior segment mesenchymal dysgenesis;Iridogoniodysgenesis, dominant type;Ring dermoid of cornea;not provided;Cataract;Peters anomaly;PITX2-Related Eye Abnormalities;Axenfeld-Rieger Syndrome"	6/14/2016	-42	1	B	3
183719	Simple	369853630	A	.	Conflict	1	6	Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/4/2017	-12.57	0.5	BLB	3
183729	Simple	63750600	G	.	Conflict	1	5	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/4/2017	-11.4	1.4	BLB	3
183739	Simple	786201050	GG	.	Conflict	1	5	Lynch syndrome;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/30/2017	23.7	0.6	P	3
183748	Simple	786201057	A	.	Conflict	1	6	Liver cancer;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Li-Fraumeni syndrome 1;Small cell lung cancer;Adenocarcinoma of lung;Kidney cancer;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;Acute myeloid leukemia;not provided;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Adrenocortical carcinoma;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma	7/11/2017	14.4	0.5	PLP	3
183751	Simple	144378484	G	.	Conflict	1	5	Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/4/2017	-13.8	1.6	BLB	3
183754	Simple	773807182	G	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	4/3/2017	-11.97	1.25	BLB	3
183760	Simple	750528093	C	.	Conflict	1	5	Lynch syndrome;not specified;not provided;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	9/15/2017	14.4	0.8	PLP	3
183769	Simple	370000575	C	.	Conflict	1	5	Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome	7/28/2017	-11.1	1.6	BLB	3
183787	Simple	74318065	G	.	Conflict	1	7	MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome	8/15/2017	-33.84	1.714285714	B	3
183841	Simple	771378101	G	.	Conflict	1	4	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-8.7	1.25	BLB	3
183842	Simple	149450874	A	.	Conflict	1	5	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	8/3/2017	-14.1	1.4	BLB	3
183900	Simple	754143182	A	.	Conflict	1	6	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	5/28/2017	-14.4	1.166666667	BLB	3
183917	Simple	770992427	T	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	9/7/2017	-8.64	1.5	BLB	3
183922	Simple	756160533	T	.	Conflict	1	4	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	7/28/2017	-9	1	BLB	3
183930	Simple	758102180	T	.	Conflict	1	5	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	7/24/2017	-11.7	0.8	BLB	3
183952	Simple	568171603	A	.	Conflict	1	4	Li-Fraumeni syndrome 1;Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome	7/3/2016	-9	1.25	BLB	3
183986	Simple	374335608	G	.	Conflict	1	5	"Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	4/20/2017	-9	1.2	BLB	3
184008	Simple	202228407	G	.	Conflict	1	8	"Familial cancer of breast;Fanconi anemia;Fanconi anemia, complementation group J;Neoplasm of ovary;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome"	7/12/2017	-24	1.125	B	3
184026	Simple	767565606	T	.	Conflict	1	5	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	8/15/2017	-9	0.8	BLB	3
184044	Simple	774100153	T	.	Conflict	1	4	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	7/28/2017	-8.4	1.25	BLB	3
184058	Simple	10512435	C	.	Conflict	1	9	"Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Caf??-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome"	8/21/2017	-39.6	1.333333333	B	3
184069	Simple	766505270	T	.	Conflict	1	5	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	6/14/2016	-11.4	1.6	BLB	3
184082	Simple	757020188	G	.	Conflict	1	4	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	7/12/2017	-8.7	1.25	BLB	3
184100	Simple	786201277	G	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	7/11/2016	-8.7	1.5	BLB	3
184102	Simple	201412035	A	.	Conflict	1	4	MYH-associated polyposis;Hereditary cancer-predisposing syndrome	8/1/2017	-8.7	1.25	BLB	3
184112	Simple	1800369	A	.	Conflict	1	5	Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome	7/19/2017	-16.8	1.6	BLB	3
184133	Simple	142712751	C	.	Conflict	1	11	"Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Caf??-au-lait macules with pulmonary stenosis;Tumor susceptibility linked to germline BAP1 mutations;not specified;Hereditary cancer-predisposing syndrome"	10/25/2017	-26.7	1.272727273	B	3
184138	Simple	374936223	T	.	Conflict	1	4	Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome	8/8/2017	-9.3	0.75	BLB	3
184147	Simple	761326128	C	.	Conflict	1	5	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	2/16/2017	-12	1.2	BLB	3
184154	Simple	55865524	G	.	Conflict	1	4	"Neurofibromatosis, type 1;not specified;Hereditary cancer-predisposing syndrome"	8/11/2017	-14.1	1.25	BLB	3
184164	Simple	147196739	A	.	Conflict	1	5	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	10/19/2017	-15.3	0.4	BLB	3
184207	Simple	730881763	G	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/25/2017	-8.4	1.25	BLB	3
184237	Simple	756121647	T	.	Conflict	1	3	Tuberous sclerosis 2;Tuberous sclerosis syndrome;Hereditary cancer-predisposing syndrome	8/1/2017	-8.7	1.333333333	BLB	3
184293	Simple	374431061	T	.	Conflict	1	5	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	10/25/2017	-11.7	1	BLB	3
184320	Simple	138186428	T	.	Conflict	1	4	"Neurofibromatosis, type 1;not specified;not provided;Hereditary cancer-predisposing syndrome"	8/16/2017	-14.4	1	BLB	3
184395	Simple	45528833	C	.	Conflict	1	4	"Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome"	7/17/2017	-8.67	1.5	BLB	3
184530	Simple	3136351	A	.	Conflict	1	5	Hereditary nonpolyposis colorectal cancer type 5;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/25/2017	-14.34	1.8	BLB	3
184533	Simple	142636150	C	.	Conflict	1	9	"Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Caf??-au-lait macules with pulmonary stenosis;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-18.3	1.111111111	BLB	3
184540	Simple	786201524	G	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome	11/6/2017	-9	0.5	BLB	3
184543	Simple	148223181	A	.	Conflict	1	3	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-8.7	1	BLB	3
184547	Simple	780747266	A	.	Conflict	1	5	MYH-associated polyposis;not specified;Hereditary cancer-predisposing syndrome	7/17/2017	-12	1	BLB	3
184583	Simple	151168457	T	.	Conflict	1	4	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	8/9/2017	-9	1.25	BLB	3
184644	Simple	368928783	A	.	Conflict	1	6	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	8/24/2017	-17.1	1.166666667	BLB	3
184654	Simple	771993728	T	.	Conflict	1	4	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	8/3/2017	-9	0.75	BLB	3
184661	Simple	769364808	A	.	Conflict	1	6	Lynch syndrome II;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/25/2017	-16.8	1.5	BLB	3
184675	Simple	786201609	G	.	Conflict	1	4	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	3/13/2017	-8.7	1.25	BLB	3
184691	Simple	537906142	A	.	Conflict	1	3	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	7/26/2017	-8.67	1.666666667	BLB	3
184708	Simple	141749524	C	.	Conflict	1	6	Familial cancer of breast;Fanconi anemia;not specified;Hereditary cancer-predisposing syndrome	8/11/2017	-12.57	0.666666667	BLB	3
184830	Simple	757145884	A	.	Conflict	1	5	Familial cancer of breast;Fanconi anemia;Hereditary cancer-predisposing syndrome	4/8/2017	-9.3	1	BLB	3
185424	Simple	112902065	T	.	Conflict	1	3	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	4/5/2017	-9.3	0.666666667	BLB	3
185547	Simple	200726484	A	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	10/6/2017	-9	0.5	BLB	3
185640	Simple	786202334	A	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	5/22/2017	-8.7	0.75	BLB	3
185705	Simple	80356913	A	.	Conflict	1	2	"Breast-ovarian cancer, familial 1;not specified;Hereditary cancer-predisposing syndrome"	6/26/2017	8.4	1	PLP	3
186003	Simple	55754907	T	.	Conflict	1	4	Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome	8/11/2017	-8.7	1	BLB	3
186046	Simple	199643502	C	.	Conflict	1	4	Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary cancer-predisposing syndrome	3/3/2017	-8.7	1.5	BLB	3
186120	Simple	200937538	A	.	Conflict	1	4	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	7/28/2017	-8.4	1.25	BLB	3
186204	Simple	786202772	T	.	Conflict	1	5	Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	3/2/2017	-14.1	1.8	BLB	3
186642	Simple	753646931	C	.	Conflict	1	6	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-17.1	1.166666667	BLB	3
186825	Simple	786203249	C	.	Conflict	1	6	"Fanconi anemia;Fanconi anemia, complementation group O;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility"	7/21/2017	-11.7	1.333333333	BLB	3
187401	Simple	771660444	C	.	Conflict	1	4	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	6/30/2017	-8.4	1.5	BLB	3
188358	Simple	199771406	A	.	Conflict	1	3	"Renal cell carcinoma, papillary, 1;Hereditary cancer-predisposing syndrome"	7/31/2017	-9.3	0.333333333	BLB	3
188365	Simple	115776799	G	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/10/2017	-11.1	1.333333333	BLB	3
188374	Simple	2233328	G	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	7/5/2017	-9.3	0.666666667	BLB	3
188381	Simple	35512910	A	.	Conflict	1	3	"not specified;not provided;Spastic paraplegia;Spastic Paraplegia, Recessive"	6/30/2017	-9.3	0.666666667	BLB	3
188396	Simple	144693221	A	.	Conflict	1	5	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	7/31/2017	-12.3	0.6	BLB	3
188400	Simple	386834043	.	.	Conflict	1	4	Joubert syndrome;Meckel-Gruber syndrome;Meckel syndrome type 1;not provided	8/24/2017	23.4	1	P	3
188476	Simple	113085339	G	.	Conflict	1	4	"Glycogen storage disease, type II;not specified"	5/3/2017	-8.94	1.25	BLB	3
188488	Simple	150529554	T	.	Conflict	1	6	"Mutilating keratoderma;Hystrix-like ichthyosis with deafness;Nonsyndromic hearing loss and deafness;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.6	1.333333333	BLB	3
188571	Simple	370530334	T	.	Conflict	1	3	not specified;Hypertrophic cardiomyopathy	9/20/2016	-8.85	3	BLB	3
188677	Simple	375447438	A	.	Conflict	1	5	"Familial restrictive cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome"	6/14/2016	-12.15	2	BLB	3
189296	Simple	793888517	C	.	Conflict	1	5	Familial hypercholesterolemia	7/13/2017	25.8	1	P	3
189298	Simple	146651743	A	.	Conflict	1	3	Familial hypercholesterolemia	11/5/2016	17.4	1.333333333	P	3
189300	Simple	1801696	T	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/21/2017	-15.54	1	BLB	3
190129	Simple	147232392	T	.	Conflict	1	6	"Heterotaxy, visceral, X-linked;VACTERL association with hydrocephaly, X-linked;not specified;Congenital heart defects 1, nonsyndromic, 1"	6/14/2016	-13.2	1.333333333	BLB	3
190151	Simple	116373975	A	.	Conflict	1	7	DE SANCTIS-CACCHIONE SYNDROME;Cerebro-oculo-facio-skeletal syndrome;Cockayne syndrome B;Lung cancer;UV-sensitive syndrome;Cockayne syndrome;Age-related macular degeneration 5;not specified;Macular degeneration;Premature ovarian failure 11;Cerebrooculofacioskeletal Syndrome	5/23/2017	-10.08	1.428571429	BLB	3
190156	Simple	61760163	A	.	Conflict	1	8	DE SANCTIS-CACCHIONE SYNDROME;Cerebro-oculo-facio-skeletal syndrome;Cockayne syndrome B;Lung cancer;UV-sensitive syndrome;Cockayne syndrome;Age-related macular degeneration 5;not specified;Macular degeneration;Premature ovarian failure 11;Cerebrooculofacioskeletal Syndrome	5/23/2017	-10.29	1.75	BLB	3
190164	Simple	139007661	G	.	Conflict	1	8	DE SANCTIS-CACCHIONE SYNDROME;Cerebro-oculo-facio-skeletal syndrome;Cockayne syndrome B;Lung cancer;UV-sensitive syndrome;Cockayne syndrome;Age-related macular degeneration 5;not specified;Macular degeneration;Premature ovarian failure 11;Cerebrooculofacioskeletal Syndrome	5/23/2017	-10.29	1.75	BLB	3
190174	Simple	150935953	A	.	Conflict	1	5	Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome	6/14/2016	-9.48	1.8	BLB	3
190194	Simple	200130356	C	.	Conflict	1	7	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Aortic dilatation"	10/6/2017	-26.58	1.428571429	B	3
190510	Simple	140470576	A	.	Conflict	1	4	Long QT syndrome;Romano-Ward syndrome;not provided	6/20/2017	-8.7	1.5	BLB	3
190514	Simple	139046510	T	.	Conflict	1	6	Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Cardiovascular phenotype	5/16/2017	-10.2	2.166666667	BLB	3
190518	Simple	144888041	C	.	Conflict	1	7	Brugada syndrome 1;Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Cardiovascular phenotype	8/7/2017	-17.85	1.714285714	BLB	3
190540	Simple	150226540	A	.	Conflict	1	4	Long QT syndrome;not specified;not provided	7/10/2017	-8.7	1.25	BLB	3
190631	Simple	201756421	C	.	Conflict	1	7	Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;not provided;Cardiovascular phenotype	9/21/2017	-11.94	1.285714286	BLB	3
190730	Simple	137886839	T	.	Conflict	1	4	Brugada syndrome 4;Brugada syndrome;not specified;Cardiovascular phenotype	7/12/2017	-12.6	0.75	BLB	3
190772	Simple	62641689	T	.	Conflict	1	6	Brugada syndrome 8;not specified;not provided;Sudden cardiac death	8/3/2017	-19.8	1.666666667	BLB	3
190804	Simple	141069645	G	.	Conflict	1	6	Andersen Tawil syndrome;Short QT syndrome 3;short QT syndrome;not specified;Familial atrial fibrillation	7/19/2017	-12.57	0.833333333	BLB	3
190847	Simple	66876876	A	.	Conflict	1	10	"Generalized epilepsy with febrile seizures plus, type 1;Brugada syndrome 5;not specified;not provided;Atrial fibrillation, familial, 13;Epileptic encephalopathy, early infantile, 52"	8/1/2017	-22.41	0.7	BLB	3
190869	Simple	72552027	A	.	Conflict	1	8	"Cardiac conduction defect, nonspecific;Brugada syndrome 5;Generalized epilepsy with febrile seizures plus;Brugada syndrome;not specified;Cardiovascular phenotype"	10/11/2017	-24.3	0.625	B	3
190877	Simple	150721582	A	.	Conflict	1	4	Brugada syndrome 5;not specified;Cardiovascular phenotype	11/9/2017	-9.3	0.25	BLB	3
191238	Simple	786205598	T	.	Conflict	1	3	Early infantile epileptic encephalopathy 4;not specified;not provided;Early onset epileptic encephalopathy	10/16/2017	11.79	1.333333333	PLP	3
191428	Simple	199694744	C	.	Conflict	1	4	Timothy syndrome;Long QT syndrome;Brugada syndrome;not provided	7/5/2017	-9.21	1.5	BLB	3
191518	Simple	61757671	A	.	Conflict	1	6	Long QT syndrome;Romano-Ward syndrome;not specified;not provided;Cardiovascular phenotype	10/10/2017	-8.94	1.5	BLB	3
191535	Simple	138842207	A	.	Conflict	1	4	Long QT syndrome;not provided;Cardiovascular phenotype	5/3/2017	-8.4	1.25	BLB	3
191548	Simple	56157422	C	.	Conflict	1	4	Long QT syndrome 12;Long QT syndrome;not specified;Cardiovascular phenotype	6/27/2017	-8.4	1.5	BLB	3
191566	Simple	200231105	A	.	Conflict	1	5	Timothy syndrome;Brugada syndrome;not specified	6/14/2016	-10.47	2	BLB	3
191569	Simple	61733968	G	.	Conflict	1	3	Brugada syndrome 4;Brugada syndrome;not specified	8/8/2017	-10.5	1.666666667	BLB	3
191702	Simple	17847242	A	.	Conflict	1	6	"Charcot-Marie-Tooth disease, type 2;not specified;not provided;Cardiovascular phenotype"	8/25/2017	-17.31	1.666666667	BLB	3
191850	Simple	184078016	A	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	7/31/2017	-9.21	1.666666667	BLB	3
191875	Simple	185002960	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/15/2017	-34.41	1.5	B	3
192102	Simple	200342284	G	.	Conflict	1	4	Dilated cardiomyopathy 1W;not specified;not provided	4/5/2017	-11.91	1.75	BLB	3
192106	Simple	150385900	C	.	Conflict	1	6	"Dilated cardiomyopathy 1W;not specified;not provided;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	7/25/2017	-18.18	1.666666667	BLB	3
192111	Simple	142943120	A	.	Conflict	1	6	"Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;not provided;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	7/31/2017	-14.4	1.333333333	BLB	3
192113	Simple	34656239	T	.	Conflict	1	5	"Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;not provided;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant"	6/20/2017	-14.1	1.4	BLB	3
192125	Simple	150911078	A	.	Conflict	1	5	not specified;not provided;Dilated cardiomyopathy 1KK	4/25/2017	-11.34	2	BLB	3
192133	Simple	141443652	T	.	Conflict	1	5	Primary dilated cardiomyopathy;Loeys-Dietz syndrome 2;not specified;not provided	8/1/2017	-8.7	1	BLB	3
192173	Simple	200840285	A	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided"	8/8/2017	-14.1	1.333333333	BLB	3
192181	Simple	71579375	G	.	Conflict	1	4	Dilated cardiomyopathy 1W;not specified;not provided;Cardiovascular phenotype	6/5/2017	-8.4	1.5	BLB	3
192223	Simple	141893001	C	.	Conflict	1	4	Lynch syndrome I;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	11/17/2017	-14.94	1.25	BLB	3
192262	Simple	182976977	C	.	Conflict	1	3	Collagen VI-related myopathy;not specified;Dystonia 27	10/2/2017	-9	0.666666667	BLB	3
193120	Simple	200092211	A	.	Conflict	1	7	"Idiopathic generalized epilepsy;Epilepsy, idiopathic generalized 9;Juvenile myoclonic epilepsy;Episodic ataxia, type 5;Episodic ataxia;not specified"	6/30/2017	-10.11	1.142857143	BLB	3
193171	Simple	148616993	A	.	Conflict	1	3	"Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified"	10/19/2016	-11.1	1.666666667	BLB	3
193196	Simple	201713027	G	.	Conflict	1	5	Early infantile epileptic encephalopathy 9;not specified	7/7/2017	-9.51	1	BLB	3
193220	Simple	201255083	T	.	Conflict	1	5	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	5/23/2017	-9.51	1.2	BLB	3
193248	Simple	149642284	T	.	Conflict	1	4	Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	4/3/2017	-13.74	2	BLB	3
193249	Simple	756778048	T	.	Conflict	1	5	Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	5/5/2017	-13.77	1.4	BLB	3
193342	Simple	200353554	T	.	Conflict	1	5	Neuronal ceroid lipofuscinosis;not specified;not provided	7/6/2017	-15.3	0.8	BLB	3
193379	Simple	193922695	GGAGGAGGAGGA	.	Conflict	1	5	Alstrom syndrome;not specified;not provided	4/27/2017	-16.8	1.4	BLB	3
193388	Simple	141340867	T	.	Conflict	1	4	Bardet-Biedl syndrome;not specified;not provided	11/24/2016	-14.1	1.5	BLB	3
193390	Simple	527373013	A	.	Conflict	1	4	"Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive"	10/23/2017	-9.6	0.5	BLB	3
193439	Simple	146152956	G	.	Conflict	1	3	"not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5"	7/31/2017	-12.24	1.333333333	BLB	3
193453	Simple	555140661	G	.	Conflict	1	6	"Drash syndrome;Frasier syndrome;Meacham syndrome;Diffuse mesangial sclerosis;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;WAGR syndrome;Wilms Tumor"	8/17/2017	-18.24	1.166666667	BLB	3
193496	Simple	549007670	GGCGGCGGCGGC	.	Conflict	1	5	"Spastic paraplegia 6;Hereditary spastic paraplegia;not specified;Spastic Paraplegia, Dominant"	7/27/2017	-14.7	0.6	BLB	3
193503	Simple	544397395	T	.	Conflict	1	4	Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome	7/1/2016	-9.3	1	BLB	3
193504	Simple	377060857	T	.	Conflict	1	6	Meckel-Gruber syndrome;Renal-hepatic-pancreatic dysplasia;Nephronophthisis;not specified	8/12/2017	-9.84	1.333333333	BLB	3
193557	Simple	148845653	T	.	Conflict	1	4	Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome	6/14/2016	-9.27	1.25	BLB	3
193624	Simple	201485014	G	.	Conflict	1	4	Pitt-Hopkins-like syndrome 2;not specified	7/19/2017	-12.24	1	BLB	3
193643	Simple	147407423	A	.	Conflict	1	6	Progressive sclerosing poliodystrophy;not specified	6/27/2017	-9.57	0.833333333	BLB	3
193644	Simple	147211684	T	.	Conflict	1	4	"Glycogen storage disease, type VI;not specified"	8/1/2017	-16.5	1.5	BLB	3
193680	Simple	75467696	T	.	Conflict	1	4	Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia	6/19/2017	-9	1	BLB	3
193762	Simple	141287105	C	.	Conflict	1	5	Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome	9/5/2017	-20.1	0.8	BLB	3
193767	Simple	138560086	T	.	Conflict	1	3	Pontoneocerebellar hypoplasia;not specified	6/14/2016	-11.1	1.666666667	BLB	3
193859	Simple	187453572	T	.	Conflict	1	10	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	9/11/2017	-21.87	0.9	BLB	3
193897	Simple	139619013	C	.	Conflict	1	3	"Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not specified"	5/25/2017	-9	1	BLB	3
193901	Simple	72957510	T	.	Conflict	1	3	Three M syndrome;not specified;not provided	1/2/2017	-8.7	1.333333333	BLB	3
193911	Simple	143028540	G	.	Conflict	1	5	"Mental retardation, autosomal dominant 1;not specified;not provided;Intellectual Disability, Dominant"	7/18/2017	-14.1	1.2	BLB	3
193923	Simple	142756900	A	.	Conflict	1	4	"not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5"	5/17/2017	-12.24	1	BLB	3
193990	Simple	145525174	T	.	Conflict	1	6	"Stargardt disease 1;not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	8/31/2016	-9.54	1.5	BLB	3
193991	Simple	111381107	T	.	Conflict	1	4	"Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related"	6/12/2017	-14.1	1.25	BLB	3
193994	Simple	201667254	C	.	Conflict	1	4	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	7/19/2017	-12.3	0.5	BLB	3
194022	Simple	2301734	T	.	Conflict	1	4	not specified;not provided	9/29/2017	-8.94	1.25	BLB	3
194024	Simple	587780736	-	.	Conflict	1	4	"Renal cell carcinoma, papillary, 1;not specified"	11/2/2017	-12.24	1	BLB	3
194025	Simple	121908627	A	.	Conflict	1	7	"Inclusion body myopathy 2;Nonaka myopathy;Sialuria;not specified;not provided;Inclusion Body Myopathy, Recessive"	10/31/2017	-10.17	0.857142857	BLB	3
194032	Simple	549232924	AA	.	Conflict	1	3	not specified;Early infantile epileptic encephalopathy	8/4/2017	-11.07	1.666666667	BLB	3
194124	Simple	117033008	T	.	Conflict	1	4	Bardet-Biedl syndrome;not specified	7/31/2017	-14.1	1	BLB	3
194138	Simple	138072724	T	.	Conflict	1	5	Bardet-Biedl syndrome;not specified;not provided	7/28/2017	-14.37	1.4	BLB	3
194142	Simple	201400523	T	.	Conflict	1	4	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/21/2017	-12	1	BLB	3
194147	Simple	138787771	T	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified;not provided"	7/26/2017	-17.4	1	BLB	3
194148	Simple	141315921	C	.	Conflict	1	3	not specified	7/27/2017	-8.7	1	BLB	3
194196	Simple	200660642	A	.	Conflict	1	5	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified"	7/18/2017	-22.44	1.8	BLB	3
194240	Simple	148207416	A	.	Conflict	1	3	"not specified;Spinocerebellar Ataxia, Dominant"	9/1/2016	-9.24	1.666666667	BLB	3
194280	Simple	61748364	T	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	8/3/2017	-17.1	1	BLB	3
194282	Simple	41269557	A	.	Conflict	1	6	Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome	5/16/2017	-12.54	1	BLB	3
194297	Simple	563896790	T	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/28/2017	-11.7	1	BLB	3
194331	Simple	371914255	A	.	Conflict	1	8	"Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis"	8/1/2017	-24.27	1	B	3
194343	Simple	556761275	G	.	Conflict	1	5	Juvenile myoclonic epilepsy;Episodic ataxia;not specified	2/10/2017	-17.64	1.6	BLB	3
194347	Simple	61749163	C	.	Conflict	1	3	Severe combined immunodeficiency with sensitivity to ionizing radiation;Histiocytic medullary reticulosis;not specified	5/18/2017	-11.7	1	BLB	3
194367	Simple	370608239	A	.	Conflict	1	4	"not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2"	6/14/2016	-9.24	1.5	BLB	3
194409	Simple	150043585	A	.	Conflict	1	6	"Charcot-Marie-Tooth disease, type 2;not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2"	8/9/2017	-20.04	1.5	BLB	3
194438	Simple	188104446	G	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	7/26/2017	-14.7	1	BLB	3
194449	Simple	118187988	T	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	9/8/2017	-12.3	0.8	BLB	3
194495	Simple	139926138	T	.	Conflict	1	4	"Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S"	9/11/2017	-9.54	1.25	BLB	3
194557	Simple	533729683	C	.	Conflict	1	3	Osteogenesis imperfecta type 8;not specified	6/19/2017	-9.24	1.333333333	BLB	3
194569	Simple	145898152	A	.	Conflict	1	3	Nephronophthisis 9;Nephronophthisis;not specified	3/16/2017	-9.24	1.333333333	BLB	3
194590	Simple	145720191	T	.	Conflict	1	4	Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome	6/14/2016	-9.27	1.25	BLB	3
194618	Simple	72657304	C	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	7/24/2017	-9	1	BLB	3
194622	Simple	199513044	G	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	7/20/2017	-12.3	0.6	BLB	3
194648	Simple	151051452	C	.	Conflict	1	5	"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified;Limb-Girdle Muscular Dystrophy, Recessive"	6/12/2017	-9.3	1	BLB	3
194667	Simple	72650720	A	.	Conflict	1	4	"Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II;not specified"	6/13/2017	-9.3	0.75	BLB	3
194695	Simple	41562713	C	.	Conflict	1	4	Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome	6/14/2016	-9.24	1.5	BLB	3
194702	Simple	56395521	C	.	Conflict	1	4	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified	6/14/2016	-9.27	1.25	BLB	3
194706	Simple	28943591	A	.	Conflict	1	5	"Bifunctional peroxisomal enzyme deficiency;Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance;not specified;not provided;Perrault Syndrome"	6/14/2016	-10.8	1.8	BLB	3
194727	Simple	200053635	A	.	Conflict	1	5	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;not provided;FLNA-related disorder"	6/28/2017	-17.37	1.4	BLB	3
194729	Simple	149077114	C	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	7/10/2017	-9.3	0.75	BLB	3
194731	Simple	148641361	C	.	Conflict	1	4	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	7/19/2017	-9.54	1.25	BLB	3
194764	Simple	148424288	T	.	Conflict	1	4	Renal dysplasia and retinal aplasia;Nephronophthisis;not specified	6/14/2016	-10.8	1.75	BLB	3
194807	Simple	376478864	T	.	Conflict	1	3	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;not specified"	6/12/2017	-8.64	1.666666667	BLB	3
194825	Simple	61757684	C	.	Conflict	1	6	Pyridoxine-dependent epilepsy;not specified;not provided	8/1/2017	-23.1	1.333333333	BLB	3
194844	Simple	151242451	A	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	8/30/2016	-12.24	1.666666667	BLB	3
194863	Simple	146588608	T	.	Conflict	1	3	"not specified;Limb-Girdle Muscular Dystrophy, Recessive"	4/21/2017	-11.1	1.333333333	BLB	3
194894	Simple	372349042	C	.	Conflict	1	3	Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified	8/8/2017	-8.94	1.666666667	BLB	3
194923	Simple	374924686	T	.	Conflict	1	5	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified"	6/14/2016	-12.24	1.4	BLB	3
194928	Simple	16024	T	.	Conflict	1	5	"Episodic ataxia type 2;not specified;not provided;Inborn genetic diseases;Epileptic encephalopathy, early infantile, 42"	7/26/2017	-15.54	1	BLB	3
194936	Simple	200586605	A	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type 2;not specified;not provided;Charcot-Marie-Tooth, Type 2"	7/10/2017	-14.64	1.5	BLB	3
194958	Simple	146221263	C	.	Conflict	1	4	not specified;not provided	10/16/2017	-8.94	1.25	BLB	3
194959	Simple	140955110	A	.	Conflict	1	4	not specified;not provided	10/16/2017	-8.94	1.25	BLB	3
194989	Simple	141330687	T	.	Conflict	1	6	"Charcot-Marie-Tooth disease, type IV;not specified;not provided;Charcot-Marie-Tooth, Type 4"	8/1/2017	-17.37	1.166666667	BLB	3
195041	Simple	144836032	G	.	Conflict	1	5	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified	6/14/2016	-12.27	1.2	BLB	3
195118	Simple	56236932	C	.	Conflict	1	3	"Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified"	10/20/2016	-11.7	1.333333333	BLB	3
195134	Simple	77585883	C	.	Conflict	1	5	"Epileptic encephalopathy, early infantile, 1;Myoclonic epilepsy, familial infantile;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24"	9/19/2017	-16.5	1.2	BLB	3
195145	Simple	143942649	T	.	Conflict	1	3	"Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant"	7/28/2017	-9.24	1	BLB	3
195172	Simple	35244252	A	.	Conflict	1	4	"Mitochondrial DNA depletion syndrome, hepatocerebral form;not specified;Mitochondrial DNA depletion syndrome"	12/27/2016	-11.4	1.5	BLB	3
195206	Simple	561870637	G	.	Conflict	1	6	"Mutilating keratoderma;Hystrix-like ichthyosis with deafness;not specified;Keratitis-Ichthyosis-Deafness Syndrome;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-15.24	1.333333333	BLB	3
195220	Simple	145403829	C	.	Conflict	1	4	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9"	7/31/2017	-11.67	1	BLB	3
195272	Simple	150937126	T	.	Conflict	1	4	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy"	6/2/2017	-8.97	1.25	BLB	3
195295	Simple	141095352	T	.	Conflict	1	3	"not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10"	8/7/2017	-9.27	0.666666667	BLB	3
195364	Simple	202162520	T	.	Conflict	1	6	"Epileptic encephalopathy, early infantile, 1;Myoclonic epilepsy, familial infantile;not specified;not provided;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24"	10/31/2017	-9.6	0.833333333	BLB	3
195383	Simple	143301610	T	.	Conflict	1	6	Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	9/7/2017	-9.51	1.333333333	BLB	3
195466	Simple	146839867	A	.	Conflict	1	6	Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood	11/30/2016	-17.67	1.5	BLB	3
195472	Simple	374749004	A	.	Conflict	1	3	not specified	7/6/2017	-9.24	1	BLB	3
195488	Simple	144941725	G	.	Conflict	1	10	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	7/10/2017	-30.24	1.1	B	3
195592	Simple	180922748	C	.	Conflict	1	12	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	7/25/2017	-30.3	0.833333333	B	3
195647	Simple	111967655	A	.	Conflict	1	4	"Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.24	1.5	BLB	3
195654	Simple	201818691	A	.	Conflict	1	3	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	8/7/2017	-9.27	1	BLB	3
195661	Simple	368802969	G	.	Conflict	1	2	Jeune thoracic dystrophy;not specified	6/1/2017	-10.8	2	BLB	3
195670	Simple	199530601	A	.	Conflict	1	3	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified"	7/10/2017	-9.24	1.333333333	BLB	3
195741	Simple	149641783	A	.	Conflict	1	3	"Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant"	8/9/2017	-9.27	0.666666667	BLB	3
195750	Simple	145720664	A	.	Conflict	1	3	not specified;Familial Intrahepatic Cholestasis	8/2/2016	-8.7	1.333333333	BLB	3
195757	Simple	41276148	A	.	Conflict	1	4	"Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive"	4/23/2017	-11.97	1.25	BLB	3
195777	Simple	146496725	C	.	Conflict	1	6	Jeune thoracic dystrophy;Nephronophthisis;not specified;not provided	8/16/2017	-20.1	0.833333333	BLB	3
195791	Simple	368021072	C	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	6/19/2017	-11.34	1.75	BLB	3
195797	Simple	202106192	T	.	Conflict	1	9	"Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis"	8/4/2017	-24	0.888888889	B	3
195810	Simple	117199211	T	.	Conflict	1	6	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	7/29/2017	-15.6	0.833333333	BLB	3
195811	Simple	183563055	A	.	Conflict	1	4	"Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified"	6/14/2016	-9.24	1.5	BLB	3
195816	Simple	188336294	A	.	Conflict	1	10	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	6/30/2017	-32.67	1.1	B	3
195822	Simple	373946448	A	.	Conflict	1	3	Nemaline myopathy 2;not specified	8/8/2016	-9.24	1.666666667	BLB	3
195845	Simple	377180286	T	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	5/2/2017	-9.24	1.333333333	BLB	3
195847	Simple	146652498	A	.	Conflict	1	4	"Ehlers-Danlos syndrome, type 4;not specified"	6/7/2017	-12	0.75	BLB	3
195883	Simple	78889849	T	.	Conflict	1	4	Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia	6/19/2017	-12	1	BLB	3
195895	Simple	147493246	T	.	Conflict	1	3	Three M syndrome;not specified;not provided	5/9/2017	-11.1	1.333333333	BLB	3
195909	Simple	200523422	C	.	Conflict	1	3	not specified;not provided	1/24/2017	-8.64	2	BLB	3
195925	Simple	371514555	G	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	6/29/2017	-8.94	1.25	BLB	3
195932	Simple	111606207	T	.	Conflict	1	5	Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified;Cardiovascular phenotype	5/22/2017	-14.97	1.2	BLB	3
195962	Simple	146503597	T	.	Conflict	1	4	Hermansky-Pudlak syndrome;Hermansky Pudlak syndrome 2;not specified	7/25/2017	-12	1	BLB	3
195978	Simple	794727423	A	.	Conflict	1	4	CHARGE association;not specified;not provided	8/28/2017	17.76	1	P	3
196007	Simple	149561221	T	.	Conflict	1	6	"Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant"	10/20/2017	-15.3	0.833333333	BLB	3
196038	Simple	6706924	T	.	Conflict	1	3	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified	6/30/2017	-11.04	2	BLB	3
196076	Simple	76928874	G	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/25/2017	-20.4	1.3	BLB	3
196117	Simple	111341650	T	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	5/1/2017	-9.6	0.8	BLB	3
196123	Simple	141021828	T	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	7/14/2017	-9.57	0.8	BLB	3
196148	Simple	151022876	C	.	Conflict	1	4	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	7/17/2017	-9.27	0.75	BLB	3
196260	Simple	375668839	AAAA	.	Conflict	1	3	not specified;not provided	6/12/2015	-10.44	2.666666667	BLB	3
196277	Simple	115545701	T	.	Conflict	1	8	Cystic fibrosis;Hereditary pancreatitis;Congenital bilateral absence of the vas deferens;not specified;not provided	7/20/2017	12.6	1.625	PLP	3
196315	Simple	146112081	A	.	Conflict	1	4	"Hereditary sensory neuropathy type IE;not specified;Dementia, Deafness, and Sensory Neuropathy"	7/24/2017	-14.64	1.5	BLB	3
196337	Simple	60100877	A	.	Conflict	1	3	"Frontotemporal dementia;Frontotemporal dementia, ubiquitin-positive;not specified;not provided"	6/23/2017	-11.4	1.333333333	BLB	3
196338	Simple	191213443	A	.	Conflict	1	3	"Glycogen storage disease 0, muscle;not specified"	12/21/2016	-11.1	1.666666667	BLB	3
196354	Simple	61752784	G	.	Conflict	1	6	Progressive sclerosing poliodystrophy;not specified;not provided	9/7/2017	-9.3	0.833333333	BLB	3
196460	Simple	773595457	C	.	Conflict	1	3	Cortical dysplasia-focal epilepsy syndrome;not specified	6/12/2017	-8.67	1.333333333	BLB	3
196476	Simple	76191655	T	.	Conflict	1	3	Cerebral folate deficiency;not specified;not provided	3/28/2017	-13.8	1.333333333	BLB	3
196477	Simple	142813109	C	.	Conflict	1	7	Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;not specified;not provided	3/13/2017	-18.3	0.857142857	BLB	3
196478	Simple	34979623	A	.	Conflict	1	4	CHARGE association;Hypogonadism with anosmia;not specified	10/4/2016	-9.24	1.5	BLB	3
196493	Simple	139003032	T	.	Conflict	1	4	"Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant;Neuronal ceroid lipofuscinosis;Ceroid lipofuscinosis neuronal 8;not specified"	10/26/2017	-9.54	0.75	BLB	3
196570	Simple	75295839	G	.	Conflict	1	5	Bardet-Biedl syndrome;not specified;not provided	6/7/2017	-20.1	1.2	BLB	3
196597	Simple	62272670	T	.	Conflict	1	4	"Pena-Shokeir syndrome type I;Myasthenia, limb-girdle, familial;not specified;not provided"	10/31/2017	-14.64	1.5	BLB	3
196611	Simple	148465219	T	.	Conflict	1	4	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy"	10/26/2017	-11.7	0.75	BLB	3
196613	Simple	111294536	T	.	Conflict	1	4	not specified;Primary Microcephaly 2 With or Without Cortical Malformations	3/28/2017	-8.7	1.25	BLB	3
196660	Simple	147077184	T	.	Conflict	1	5	Merosin deficient congenital muscular dystrophy;Laminin alpha 2-related dystrophy;not specified	7/21/2017	-9.81	1.2	BLB	3
196714	Simple	201838492	G	.	Conflict	1	8	Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified	6/5/2017	-12.9	1.125	BLB	3
196716	Simple	193257576	T	.	Conflict	1	4	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	7/21/2017	-11.04	1.5	BLB	3
196723	Simple	112188483	T	.	Conflict	1	4	Primary dilated cardiomyopathy;not specified;not provided	9/6/2016	10.8	1.75	PLP	3
196750	Simple	144242254	A	.	Conflict	1	4	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy"	10/31/2017	-15.27	0.75	BLB	3
196756	Simple	563719398	A	.	Conflict	1	5	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	8/7/2017	-20.67	1.2	BLB	3
196764	Simple	542642242	A	.	Conflict	1	3	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	8/7/2017	-9.27	0.666666667	BLB	3
196782	Simple	200754433	AA	.	Conflict	1	3	not specified;Kabuki syndrome	6/14/2016	-9.9	2.333333333	BLB	3
196799	Simple	149109801	T	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	7/3/2017	-15.27	1	BLB	3
196823	Simple	188739870	T	.	Conflict	1	3	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy"	7/11/2017	-9.27	0.666666667	BLB	3
196852	Simple	111227648	A	.	Conflict	1	3	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	8/2/2017	-9.27	0.666666667	BLB	3
196861	Simple	143166100	G	.	Conflict	1	5	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	6/12/2017	-9.24	1.2	BLB	3
196865	Simple	149162847	A	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	6/28/2017	-11.1	1.333333333	BLB	3
196891	Simple	150069819	T	.	Conflict	1	5	not specified;Dilated cardiomyopathy 1JJ;Cardiovascular phenotype	6/12/2017	-16.17	2	BLB	3
196922	Simple	143147192	C	.	Conflict	1	4	Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17	7/11/2017	-17.1	1.25	BLB	3
196994	Simple	751305758	T	.	Conflict	1	4	Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome	7/4/2017	-8.94	1.5	BLB	3
197008	Simple	35654397	G	.	Conflict	1	4	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/1/2017	-9.54	1	BLB	3
197009	Simple	192656109	T	.	Conflict	1	3	FG syndrome;not specified	5/11/2017	-11.04	2	BLB	3
197013	Simple	201319489	T	.	Conflict	1	5	CHARGE association;Hypogonadism with anosmia;not specified	7/11/2017	-15.24	1	BLB	3
197068	Simple	146024732	T	.	Conflict	1	5	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive"	7/18/2017	-9.54	1.4	BLB	3
197085	Simple	117370446	A	.	Conflict	1	7	Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;not specified	1/19/2017	-9.3	1.285714286	BLB	3
197087	Simple	149758808	A	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	5/8/2017	-17.67	1.166666667	BLB	3
197098	Simple	73541957	G	.	Conflict	1	5	Citrullinemia type I;not specified;not provided	7/7/2017	-18.9	1.6	BLB	3
197135	Simple	191547933	C	.	Conflict	1	3	Hyperkalemic Periodic Paralysis Type 1;not specified	7/21/2017	-9.27	1	BLB	3
197158	Simple	192495718	G	.	Conflict	1	8	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders"	9/19/2017	-18.84	1	BLB	3
197171	Simple	73765819	G	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	7/28/2017	-11.1	1.333333333	BLB	3
197224	Simple	149309844	A	.	Conflict	1	4	Amish infantile epilepsy syndrome;not specified	7/20/2017	-11.7	1	BLB	3
197256	Simple	55980069	C	.	Conflict	1	4	"Pena-Shokeir syndrome type I;not specified;not provided;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive"	7/31/2017	-14.1	1.25	BLB	3
197317	Simple	117419007	T	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	7/21/2017	-11.1	1.333333333	BLB	3
197333	Simple	5743277	T	.	Conflict	1	3	Blau syndrome;Crohn disease;not specified;not provided	9/30/2016	-8.4	1.666666667	BLB	3
197356	Simple	142639587	T	.	Conflict	1	4	Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	7/26/2017	-8.94	1.5	BLB	3
197374	Simple	904582	G	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	7/17/2017	-17.7	1	BLB	3
197439	Simple	79161241	A	.	Conflict	1	4	"Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7"	7/6/2017	-11.67	1	BLB	3
197476	Simple	145608939	A	.	Conflict	1	3	Osteogenesis imperfecta type I;not specified	3/7/2017	-12.24	1.333333333	BLB	3
197477	Simple	149722210	A	.	Conflict	1	6	"Ehlers-Danlos syndrome, type 4;not specified"	6/7/2017	-20.7	1	BLB	3
197480	Simple	45602336	T	.	Conflict	1	4	Long QT syndrome;not specified;Cardiovascular phenotype	5/23/2017	-9.24	1.5	BLB	3
197524	Simple	144180493	C	.	Conflict	1	5	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/12/2017	-12.24	1.2	BLB	3
197529	Simple	138453594	G	.	Conflict	1	4	Cohen syndrome;not specified	6/29/2017	-17.1	1.25	BLB	3
197535	Simple	113034899	T	.	Conflict	1	3	Autosomal recessive polycystic kidney disease;not specified	6/14/2016	-10.5	2	BLB	3
197574	Simple	191613017	G	.	Conflict	1	3	not specified	11/23/2016	-8.67	1.666666667	BLB	3
197576	Simple	183683592	C	.	Conflict	1	5	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	12/27/2016	-9.57	1.2	BLB	3
197609	Simple	142558977	G	.	Conflict	1	7	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	8/23/2017	-21.24	1.142857143	BLB	3
197633	Simple	138097673	T	.	Conflict	1	4	"Glycogen storage disease, type II;not specified"	7/31/2017	-14.04	1.5	BLB	3
197651	Simple	151084683	A	.	Conflict	1	3	"Niemann-Pick disease type C1;Niemann-Pick disease, type C;not specified"	3/13/2017	-11.7	1	BLB	3
197787	Simple	141932061	T	.	Conflict	1	3	not specified	8/1/2017	-10.5	1.666666667	BLB	3
197795	Simple	140785104	T	.	Conflict	1	5	"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified;Limb-Girdle Muscular Dystrophy, Recessive"	10/17/2017	-17.1	1	BLB	3
197859	Simple	756502783	A	.	Conflict	1	4	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	4/11/2017	-9.24	1.25	BLB	3
197890	Simple	770187706	A	.	Conflict	1	3	not specified;Early infantile epileptic encephalopathy	5/31/2017	-9.24	1.333333333	BLB	3
197900	Simple	8030837	C	.	Conflict	1	4	"Acrocallosal syndrome, Schinzel type;not specified"	5/5/2017	-15.3	0.5	BLB	3
197911	Simple	150669855	A	.	Conflict	1	4	"Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant"	6/14/2016	-9.27	1.25	BLB	3
197940	Simple	117480635	T	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	9/22/2017	-15.3	0.666666667	BLB	3
197946	Simple	147707463	T	.	Conflict	1	9	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	7/31/2017	-17.97	1.333333333	BLB	3
197964	Simple	151249006	T	.	Conflict	1	5	"Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant"	5/30/2017	-9.6	0.8	BLB	3
198013	Simple	149318176	A	.	Conflict	1	3	Cohen syndrome;not specified	8/11/2017	-8.7	1.333333333	BLB	3
198028	Simple	3741050	A	.	Conflict	1	3	Deficiency of acetyl-CoA acetyltransferase;not specified	4/12/2017	-11.7	1	BLB	3
198039	Simple	150638770	A	.	Conflict	1	5	"Multiple pterygium syndrome Escobar type;Lethal multiple pterygium syndrome;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive"	3/30/2017	-9.84	1	BLB	3
198123	Simple	76048624	T	.	Conflict	1	4	Dilated cardiomyopathy 1DD;not specified	7/21/2017	-8.67	1.5	BLB	3
198145	Simple	76707931	T	.	Conflict	1	3	"Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S"	7/25/2017	-11.1	1.333333333	BLB	3
198222	Simple	189274856	T	.	Conflict	1	5	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive"	8/9/2017	-9.3	1	BLB	3
198246	Simple	371733585	T	.	Conflict	1	10	"Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia"	7/25/2017	-30.24	1	B	3
198248	Simple	142281464	A	.	Conflict	1	4	Amish lethal microcephaly;not specified	12/27/2016	-11.4	1.5	BLB	3
198327	Simple	79374915	C	.	Conflict	1	3	"Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related"	5/18/2017	-11.1	1.333333333	BLB	3
198328	Simple	61739911	T	.	Conflict	1	5	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified"	6/14/2016	-12.27	1.2	BLB	3
198335	Simple	150170988	T	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified;not provided"	6/12/2017	-16.8	1.2	BLB	3
198336	Simple	140861713	G	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified;not provided"	7/11/2017	-25.8	1	B	3
198337	Simple	145343609	T	.	Conflict	1	8	"Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant"	2/24/2017	-15.81	1.375	BLB	3
198378	Simple	143070183	A	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified;not provided"	6/16/2017	-17.7	0.8	BLB	3
198429	Simple	774538869	AA	.	Conflict	1	7	Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/25/2017	-32.07	0.857142857	B	3
198442	Simple	149695930	A	.	Conflict	1	4	"Fanconi anemia;VACTERL association with hydrocephalus;not specified;not provided;Fanconi Anemia, X-Linked"	6/26/2017	-12.24	1.25	BLB	3
198451	Simple	186264635	G	.	Conflict	1	3	not specified;not provided	11/2/2017	-8.7	1	BLB	3
198456	Simple	45520237	T	.	Conflict	1	3	"Renal cell carcinoma, papillary, 1;not specified;Hereditary cancer-predisposing syndrome"	10/18/2016	-8.97	1.666666667	BLB	3
198468	Simple	199853721	A	.	Conflict	1	6	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype"	8/3/2017	-19.68	2	BLB	3
198478	Simple	370741662	C	.	Conflict	1	3	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	10/31/2016	-11.1	1.666666667	BLB	3
198513	Simple	183171123	C	.	Conflict	1	3	not specified;not provided	9/25/2017	-9.24	1.333333333	BLB	3
198533	Simple	139616052	A	.	Conflict	1	6	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	5/15/2017	-8.64	1.833333333	BLB	3
198569	Simple	545088400	A	.	Conflict	1	3	not specified;Adams-Oliver syndrome 5	7/28/2017	-9.27	1	BLB	3
198573	Simple	143578698	G	.	Conflict	1	5	Ceroid lipofuscinosis neuronal 6;Neuronal ceroid lipofuscinosis;Adult neuronal ceroid lipofuscinosis;not specified	7/31/2017	-9.84	0.8	BLB	3
198593	Simple	144567556	T	.	Conflict	1	6	Joubert syndrome;Meckel-Gruber syndrome;not specified	8/24/2017	-14.7	1.333333333	BLB	3
198602	Simple	149171782	T	.	Conflict	1	4	not specified;Hyperphosphatasia with mental retardation syndrome 2;Hyperphosphatasia with Intellectual Disability Syndrome	8/2/2017	-9.54	1	BLB	3
198619	Simple	28544073	T	.	Conflict	1	4	"Ceroid lipofuscinosis neuronal 7;not specified;Neuronal Ceroid-Lipofuscinosis, Recessive"	7/31/2017	-8.7	1	BLB	3
198631	Simple	180903875	G	.	Conflict	1	3	"Epilepsy, progressive myoclonic 5;not specified"	4/11/2017	-8.67	1.666666667	BLB	3
198635	Simple	138423466	A	.	Conflict	1	4	Brugada syndrome 4;Brugada syndrome;not specified;Cardiovascular phenotype	6/20/2017	-13.8	1.5	BLB	3
198667	Simple	141202420	A	.	Conflict	1	4	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	4/18/2017	-9.3	0.75	BLB	3
198672	Simple	141057568	C	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	7/10/2017	-21.27	0.666666667	BLB	3
198673	Simple	111511993	A	.	Conflict	1	4	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	4/18/2017	-9.3	0.75	BLB	3
198680	Simple	112062179	T	.	Conflict	1	5	Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia	5/4/2017	-9.3	1	BLB	3
198693	Simple	147405081	T	.	Conflict	1	4	Holt-Oram syndrome;not specified;Aortic valve disease 2;not provided	4/17/2017	-12.24	1	BLB	3
198703	Simple	143174377	T	.	Conflict	1	5	Joubert syndrome;Renal dysplasia and retinal aplasia;Nephronophthisis;not specified	5/2/2017	-8.7	1.2	BLB	3
198758	Simple	142955097	G	.	Conflict	1	4	Cranioectodermal dysplasia 2;Short rib polydactyly syndrome 5;Cranioectodermal dysplasia;not specified;Short Rib Polydactyly Syndrome	6/21/2017	-9	1	BLB	3
198777	Simple	144884147	G	.	Conflict	1	5	"Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant"	2/6/2017	-9.54	1.4	BLB	3
198778	Simple	148157556	T	.	Conflict	1	3	"Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S"	7/25/2017	-11.1	1.333333333	BLB	3
198796	Simple	146630369	C	.	Conflict	1	4	Wagner syndrome;not specified;Vitreoretinopathy	6/14/2016	-9.24	1.5	BLB	3
198801	Simple	160278	G	.	Conflict	1	4	Wagner syndrome;not specified;Vitreoretinopathy	6/14/2016	-9.24	1.5	BLB	3
198835	Simple	199946797	T	.	Conflict	1	5	Diabetes mellitus AND insipidus with optic atrophy AND deafness;not provided;Wolfram syndrome;Monogenic diabetes	7/7/2016	10.5	1.8	PLP	3
198873	Simple	73945001	G	.	Conflict	1	4	Alstrom syndrome;not specified;Monogenic diabetes	5/23/2017	-9.24	1.5	BLB	3
198896	Simple	146651455	T	.	Conflict	1	4	"Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy"	7/20/2017	-14.1	1	BLB	3
198967	Simple	138217960	T	.	Conflict	1	4	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	6/28/2017	-14.1	1	BLB	3
198991	Simple	61736827	T	.	Conflict	1	5	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified"	7/14/2017	-17.34	1.6	BLB	3
199018	Simple	150677536	G	.	Conflict	1	4	Bifunctional peroxisomal enzyme deficiency;not specified;Perrault Syndrome	6/14/2016	-10.2	2	BLB	3
199044	Simple	2230288	T	.	Conflict	1	2	"Gaucher's disease, type 1;not specified;not provided;Hypertension;Parkinsonism;Tremor;Rigidity;Neurological speech impairment;Cogwheel rigidity;Hyperlipidemia;Lower limb muscle weakness;Dementia"	10/31/2017	-10.8	2	BLB	3
199083	Simple	794727970	A	.	Conflict	1	3	Early infantile epileptic encephalopathy 4;not specified;not provided	5/15/2017	8.43	1.333333333	PLP	3
199111	Simple	41314035	A	.	Conflict	1	17	"Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Congenital muscular dystrophy, LMNA-related;Charcot-Marie-Tooth disease, type 2;Emery-Dreifuss muscular dystrophy;Mandibuloacral dysplasia;not specified;Familial partial lipodystrophy;Charcot-Marie-Tooth, Type 2;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/26/2017	-47.58	1.294117647	B	3
199142	Simple	377662366	G	.	Conflict	1	5	CHARGE association;Hypogonadism with anosmia;not specified	7/24/2017	-18.24	1.2	BLB	3
199217	Simple	539194350	A	.	Conflict	1	7	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	5/17/2017	-12.84	1.142857143	BLB	3
199219	Simple	148731167	A	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	7/10/2017	-15.24	1	BLB	3
199224	Simple	148095660	T	.	Conflict	1	4	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	6/7/2017	-17.7	1	BLB	3
199226	Simple	113962905	T	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	5/25/2017	-15.6	0.5	BLB	3
199241	Simple	374156904	T	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;not provided;Cardiovascular phenotype"	7/26/2017	-11.28	2.5	BLB	3
199698	Simple	41263775	G	.	Conflict	1	4	"Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified"	8/22/2016	-11.94	1.75	BLB	3
199737	Simple	139619440	A	.	Conflict	1	4	"Ehlers-Danlos syndrome, type 4;not specified"	3/20/2017	-12.27	1	BLB	3
199875	Simple	139799237	A	.	Conflict	1	7	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	10/25/2016	-12.84	1.285714286	BLB	3
199960	Simple	142888621	A	.	Conflict	1	11	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	5/5/2017	-24.78	1.272727273	B	3
200027	Simple	200342067	C	.	Conflict	1	10	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	7/11/2017	-30.27	1	B	3
200245	Simple	72549418	T	.	Conflict	1	4	Long QT syndrome;not specified;Cardiovascular phenotype	10/10/2017	-10.5	1.25	BLB	3
200272	Simple	144338227	C	.	Conflict	1	4	Long QT syndrome;not specified	7/8/2017	-10.17	2	BLB	3
200600	Simple	551056698	-	.	Conflict	1	6	Long QT syndrome 1;Long QT syndrome 2;Long QT syndrome;not specified;Cardiovascular phenotype	7/26/2017	-18	0.666666667	BLB	3
200864	Simple	11601907	G	.	Conflict	1	6	short QT syndrome;Long QT syndrome;not specified;Jervell and Lange-Nielsen syndrome;KCNQ1-Related Disorders	6/13/2017	-13.2	0.666666667	BLB	3
200920	Simple	768563000	A	.	Conflict	1	4	Familial hypercholesterolemia;not provided	3/30/2017	11.4	1	PLP	3
200921	Simple	730882109	T	.	Conflict	1	5	Familial hypercholesterolemia;not provided	3/30/2017	16.8	1.2	P	3
201026	Simple	112861184	G	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified"	7/6/2017	-13.5	1.75	BLB	3
201031	Simple	141159831	T	.	Conflict	1	5	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive"	7/25/2017	-16.2	1.6	BLB	3
201041	Simple	111588143	T	.	Conflict	1	3	"Aortic aneurysm, familial thoracic 4;not specified"	8/11/2017	-11.7	1	BLB	3
201044	Simple	113667224	A	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 6;Thoracic aortic aneurysm and aortic dissection;not specified"	8/11/2017	-9	1	BLB	3
201046	Simple	61734199	T	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified"	6/20/2017	-13.5	1.75	BLB	3
201068	Simple	7196804	T	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection;not specified;Lissencephaly, Recessive"	9/27/2017	-11.7	0.75	BLB	3
201158	Simple	145044872	A	.	Conflict	1	7	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;Malignant hypothermia;RYR1-Related Disorders"	7/12/2017	-15.54	1.142857143	BLB	3
201165	Simple	367992907	A	.	Conflict	1	4	"not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	7/27/2017	-8.4	1.25	BLB	3
201176	Simple	371088367	A	.	Conflict	1	5	"not specified;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	9/2/2016	-14.1	1.6	BLB	3
201572	Simple	749697698	-	.	Conflict	1	4	Long QT syndrome 3;Long QT syndrome;Brugada syndrome;not provided	8/15/2017	8.4	1	PLP	3
201611	Simple	141025897	G	.	Conflict	1	5	"Hypertrichotic osteochondrodysplasia;Dilated cardiomyopathy 1O;not specified;Familial atrial fibrillation;Dilated Cardiomyopathy, Dominant"	8/4/2017	-11.7	1.2	BLB	3
201642	Simple	200631005	G	.	Conflict	1	3	Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Cardiovascular phenotype	5/3/2017	-11.7	1	BLB	3
201656	Simple	1064793018	-	.	Conflict	1	4	"Cardiomyopathy;not specified;Dilated Cardiomyopathy, Dominant"	6/14/2016	-12.3	2.25	BLB	3
201675	Simple	147259596	A	.	Conflict	1	4	"Myofibrillar myopathy, BAG3-related;Dilated cardiomyopathy 1HH;not specified;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant"	6/6/2017	-8.4	1.25	BLB	3
201728	Simple	61733589	T	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	3/17/2017	-9.27	1	BLB	3
201731	Simple	371648742	C	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	6/19/2017	-9	1	BLB	3
201796	Simple	554853074	C	.	Conflict	1	4	not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	8/24/2017	-8.97	1	BLB	3
201798	Simple	558770240	G	.	Conflict	1	6	Familial hypertrophic cardiomyopathy 17;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	7/25/2017	-20.67	1	BLB	3
201799	Simple	144022614	C	.	Conflict	1	4	not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype	7/31/2017	-8.67	1.5	BLB	3
201917	Simple	372065024	C	.	Conflict	1	3	Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified	3/22/2017	-8.97	1.333333333	BLB	3
202283	Simple	367732133	G	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	6/5/2017	-15.3	1.222222222	BLB	3
202368	Simple	749705939	T	.	Conflict	1	3	Dilated cardiomyopathy 1G;Cardiomyopathy;not specified;not provided	9/18/2017	8.73	0.666666667	PLP	3
202509	Simple	768431507	A	.	Conflict	1	2	Dilated cardiomyopathy 1G;not specified;not provided	8/7/2017	9	0.5	PLP	3
202868	Simple	72647862	A	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype"	4/27/2017	-8.7	1.25	BLB	3
202874	Simple	369707906	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	4/4/2017	-19.2	1.1	BLB	3
202990	Simple	186234393	C	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	4/4/2017	-10.8	1	BLB	3
203270	Simple	370812788	C	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified;Cardiovascular phenotype"	5/22/2017	-9.18	2	BLB	3
203281	Simple	747240394	T	.	Conflict	1	4	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	1/24/2017	-8.7	1.5	BLB	3
203302	Simple	375627540	T	.	Conflict	1	10	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	4/4/2017	-19.2	1.1	BLB	3
203540	Simple	201375579	G	.	Conflict	1	3	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	12/13/2016	10.5	1.666666667	PLP	3
203805	Simple	150591260	A	.	Conflict	1	2	3-methylcrotonyl CoA carboxylase 2 deficiency;not provided	10/31/2017	12	0	PLP	3
203840	Simple	139206262	A	.	Conflict	1	3	"Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type;Disorders of Intracellular Cobalamin Metabolism;not specified"	8/7/2017	-11.1	1.333333333	BLB	3
204016	Simple	115014558	A	.	Conflict	1	2	"Primary hyperoxaluria, type I;not specified"	3/28/2016	-11.4	1.5	BLB	3
204020	Simple	34885252	G	.	Conflict	1	2	"Primary hyperoxaluria, type I;not specified;Primary hyperoxaluria"	6/22/2016	-9	1	BLB	3
204056	Simple	13408961	A	.	Conflict	1	2	"Primary hyperoxaluria, type I;Primary hyperoxaluria;not provided"	9/1/2016	-9	1	BLB	3
204220	Simple	2736664	T	.	Conflict	1	2	"Primary hyperoxaluria, type II;not specified;Primary hyperoxaluria"	10/27/2016	-12	1	BLB	3
204939	Simple	200662010	C	.	Conflict	1	7	"Idiopathic generalized epilepsy;Epilepsy, idiopathic generalized 9;Juvenile myoclonic epilepsy;Episodic ataxia, type 5;Episodic ataxia;not specified"	7/28/2017	-12.54	1.142857143	BLB	3
205123	Simple	202118652	C	.	Conflict	1	4	"Neuronal ceroid lipofuscinosis;not specified;not provided;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive"	10/19/2017	-12.3	0.25	BLB	3
205216	Simple	770951811	A	.	Conflict	1	6	Cortical dysplasia-focal epilepsy syndrome;not specified;Pitt-Hopkins-like syndrome	1/23/2017	-8.97	1.5	BLB	3
205383	Simple	139197513	T	.	Conflict	1	3	Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified	4/27/2017	-8.97	1.333333333	BLB	3
205384	Simple	79761183	A	.	Conflict	1	5	Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified;not provided	7/24/2017	-18.3	0.8	BLB	3
205400	Simple	149055334	A	.	Conflict	1	5	Epilepsy juvenile absence;Juvenile myoclonic epilepsy;not specified;not provided	7/24/2017	-18.3	0.8	BLB	3
205613	Simple	148564534	A	.	Conflict	1	3	Arginine:glycine amidinotransferase deficiency;not specified;not provided	9/15/2017	-9.3	0.333333333	BLB	3
205627	Simple	113817924	A	.	Conflict	1	4	Progressive myoclonic epilepsy;not specified	6/24/2017	-14.1	1.25	BLB	3
205629	Simple	143754727	T	.	Conflict	1	3	Progressive myoclonic epilepsy;not specified	6/30/2017	-9.3	0.333333333	BLB	3
205638	Simple	78631453	A	.	Conflict	1	5	"Epilepsy, focal, with speech disorder and with or without mental retardation;not specified"	7/28/2017	-14.97	1.2	BLB	3
205679	Simple	145063086	C	.	Conflict	1	7	"Epilepsy, focal, with speech disorder and with or without mental retardation;not specified;not provided;Focal epilepsy"	9/15/2017	-12.87	0.714285714	BLB	3
205683	Simple	77029288	C	.	Conflict	1	6	"Epilepsy, focal, with speech disorder and with or without mental retardation;not specified"	3/17/2017	-15.54	1.166666667	BLB	3
205703	Simple	141886903	A	.	Conflict	1	3	"Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27;Intellectual Disability, Dominant"	6/14/2016	-11.1	1.666666667	BLB	3
205720	Simple	138771137	A	.	Conflict	1	3	"Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27"	5/23/2017	-9.27	1	BLB	3
205770	Simple	149566146	A	.	Conflict	1	4	Koolen-de Vries syndrome;not specified;Intellectual disability syndrome	8/1/2017	-9.3	0.25	BLB	3
205981	Simple	554833870	C	.	Conflict	1	4	Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy	8/18/2016	-12.24	1.5	BLB	3
205988	Simple	150821246	T	.	Conflict	1	5	Benign familial neonatal seizures;not specified;Benign familial neonatal seizures;Benign Neonatal Epilepsy	5/17/2017	-12.3	0.8	BLB	3
206053	Simple	370173652	C	.	Conflict	1	5	"Mental retardation, autosomal dominant 1;not specified;Intellectual Disability, Dominant"	8/3/2017	-19.8	1.4	BLB	3
206068	Simple	536900412	G	.	Conflict	1	4	"Mental retardation, autosomal dominant 1;not specified;Intellectual Disability, Dominant"	2/16/2017	-15.3	1	BLB	3
206206	Simple	200182626	A	.	Conflict	1	3	Pitt-Hopkins-like syndrome 2;not specified	5/9/2017	-11.07	1.666666667	BLB	3
206207	Simple	201886024	G	.	Conflict	1	4	Pitt-Hopkins-like syndrome 2;not specified;Pitt-Hopkins-like syndrome	12/5/2016	-10.8	1.75	BLB	3
206537	Simple	201477273	A	.	Conflict	1	3	"Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4B, MNGIE type;not specified;not provided"	8/17/2017	8.7	0.666666667	PLP	3
206687	Simple	745594874	C	.	Conflict	1	3	Dystonia 10;not specified	10/6/2017	-9.27	0.666666667	BLB	3
206845	Simple	368834365	T	.	Conflict	1	3	not specified;Early infantile epileptic encephalopathy	7/25/2017	-9.3	0.666666667	BLB	3
206985	Simple	571408286	T	.	Conflict	1	5	"Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	7/28/2017	-17.64	1.4	BLB	3
207034	Simple	144814658	A	.	Conflict	1	7	"Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	6/20/2017	-12.84	1.142857143	BLB	3
207119	Simple	796053216	A	.	Conflict	1	4	Early infantile epileptic encephalopathy 13;not provided;Epileptic encephalopathy;Early infantile epileptic encephalopathy	2/14/2017	11.4	1.25	PLP	3
207189	Simple	577667739	T	.	Conflict	1	4	"GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome"	7/11/2017	-9.3	0.75	BLB	3
207199	Simple	148518827	T	.	Conflict	1	4	"GLUT1 deficiency syndrome 1, autosomal recessive;Dystonia;not specified;Glucose transporter type 1 deficiency syndrome"	8/16/2017	-9.3	0.5	BLB	3
207408	Simple	561329680	T	.	Conflict	1	3	"not specified;Early infantile epileptic encephalopathy;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	4/22/2017	-11.1	1.333333333	BLB	3
207459	Simple	145911562	C	.	Conflict	1	3	"Epilepsy, X-linked, with variable learning disabilities and behavior disorders;not specified"	5/15/2017	-8.94	1.666666667	BLB	3
207484	Simple	200926225	A	.	Conflict	1	3	"Epileptic encephalopathy, early infantile, 1;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24"	12/20/2016	-8.7	1.333333333	BLB	3
207620	Simple	753374839	C	.	Conflict	1	4	Tuberous sclerosis 1;Focal cortical dysplasia type II;Tuberous sclerosis syndrome;not specified	8/2/2017	-9.6	0.75	BLB	3
207673	Simple	137920189	G	.	Conflict	1	4	Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome	9/29/2017	-9.57	0.5	BLB	3
207680	Simple	377123510	T	.	Conflict	1	3	Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome	9/8/2017	-8.7	1	BLB	3
207703	Simple	148325559	G	.	Conflict	1	3	Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome	8/2/2017	-9.3	0.333333333	BLB	3
207708	Simple	202187148	T	.	Conflict	1	5	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	9/6/2017	-12.3	0.4	BLB	3
207728	Simple	562945619	G	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	7/13/2017	-12.3	0.75	BLB	3
208541	Simple	117209107	A	.	Conflict	1	3	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9"	5/26/2017	-17.4	1	BLB	3
208612	Simple	138977195	A	.	Conflict	1	3	Familial hypokalemia-hypomagnesemia;not provided	8/18/2016	11.73	1.333333333	PLP	3
209138	Simple	149729531	G	.	Conflict	1	6	"Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified;Myotonia"	7/24/2017	9.6	1.333333333	PLP	3
210024	Simple	76947760	T	.	Conflict	1	2	Brown-Vialetto-Van Laere syndrome 1;not provided	7/24/2017	-12	0	BLB	3
210066	Simple	145136257	T	.	Conflict	1	4	"Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.27	1.25	BLB	3
210068	Simple	117874766	C	.	Conflict	1	4	"Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.27	1.25	BLB	3
210070	Simple	147623093	A	.	Conflict	1	4	"Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.27	1.25	BLB	3
210189	Simple	139344924	T	.	Conflict	1	3	Hermansky-Pudlak syndrome;Hermansky Pudlak syndrome 2;not specified	6/15/2017	-9	1	BLB	3
210384	Simple	138886791	T	.	Conflict	1	4	not specified	5/4/2017	-11.94	1.5	BLB	3
210393	Simple	143907597	G	.	Conflict	1	3	"Menkes kinky-hair syndrome;Cutis laxa, X-linked;Distal spinal muscular atrophy, X-linked 3;not specified"	7/18/2017	-11.58	2.333333333	BLB	3
210527	Simple	78967885	A	.	Conflict	1	3	Autosomal recessive centronuclear myopathy;not specified	6/14/2016	-8.7	1.666666667	BLB	3
210557	Simple	764972478	GGT	.	Conflict	1	4	"Episodic ataxia type 2;not specified;not provided;Epileptic encephalopathy, early infantile, 42"	8/7/2017	-9.51	1.5	BLB	3
210615	Simple	143790434	T	.	Conflict	1	3	not specified;not provided	11/11/2016	-8.64	2	BLB	3
210868	Simple	199763298	T	.	Conflict	1	5	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	6/1/2017	-9.6	1	BLB	3
210870	Simple	186932188	A	.	Conflict	1	6	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	2/28/2017	-12.54	1.5	BLB	3
210871	Simple	149395439	T	.	Conflict	1	5	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	7/24/2017	-12.3	1	BLB	3
210875	Simple	150888094	C	.	Conflict	1	6	"not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	6/14/2016	-9.3	1.333333333	BLB	3
210878	Simple	17541165	T	.	Conflict	1	6	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	8/2/2017	-17.7	1.166666667	BLB	3
210880	Simple	145487328	T	.	Conflict	1	3	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified"	5/19/2017	-9.24	1.333333333	BLB	3
210887	Simple	34338935	T	.	Conflict	1	3	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified"	4/28/2017	-12.24	1	BLB	3
210930	Simple	565065320	G	.	Conflict	1	4	Chromosome 9q deletion syndrome;not specified	7/27/2017	-9.54	1.25	BLB	3
210996	Simple	78727187	T	.	Conflict	1	5	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	9/11/2017	-18.24	1	BLB	3
210998	Simple	149071226	A	.	Conflict	1	4	Congenital contractural arachnodactyly;not specified	1/18/2017	-9.57	1.25	BLB	3
210999	Simple	28763926	G	.	Conflict	1	6	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified;not provided	6/26/2017	-15	0.666666667	BLB	3
211002	Simple	116413101	C	.	Conflict	1	4	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	4/22/2017	-13.74	2	BLB	3
211112	Simple	141473515	C	.	Conflict	1	3	"Mental retardation, autosomal dominant 8;not specified"	8/11/2017	-12.24	1.333333333	BLB	3
211121	Simple	147373250	A	.	Conflict	1	3	"Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27"	7/21/2017	-11.67	1.333333333	BLB	3
211132	Simple	3027884	C	.	Conflict	1	3	not specified	6/16/2017	-9.3	0.666666667	BLB	3
211187	Simple	56066516	A	.	Conflict	1	5	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified	8/9/2016	-12.3	1	BLB	3
211190	Simple	143523271	A	.	Conflict	1	5	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified	6/14/2016	-9.57	1.2	BLB	3
211195	Simple	146588336	C	.	Conflict	1	6	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome;not specified;Monogenic diabetes	6/14/2016	-12.24	1.5	BLB	3
211211	Simple	113651939	C	.	Conflict	1	5	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;not provided;Congenital Muscular Dystrophy, ITGA7-related"	9/18/2017	-17.1	1.2	BLB	3
211212	Simple	144699549	A	.	Conflict	1	5	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	6/29/2017	-17.1	1.4	BLB	3
211244	Simple	138282349	A	.	Conflict	1	4	"not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5"	7/21/2017	-8.97	1	BLB	3
211278	Simple	199996308	A	.	Conflict	1	6	"Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive"	5/4/2017	-20.67	1.166666667	BLB	3
211280	Simple	140783695	C	.	Conflict	1	6	"Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive"	1/10/2017	-10.14	1.333333333	BLB	3
211281	Simple	186881889	G	.	Conflict	1	3	not specified	3/9/2017	-8.64	1.666666667	BLB	3
211284	Simple	370286749	C	.	Conflict	1	4	"Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified"	5/24/2017	-14.64	1.25	BLB	3
211350	Simple	41285286	G	.	Conflict	1	4	"not specified;not provided;Congenital Muscular Dystrophy, LAMA2-related"	7/21/2017	-9	0.75	BLB	3
211430	Simple	186504463	G	.	Conflict	1	3	"Mental retardation, autosomal recessive 15;not specified;Intellectual Disability, Recessive"	7/10/2017	-9	1	BLB	3
211469	Simple	138984044	A	.	Conflict	1	3	FG syndrome;not specified	1/20/2017	-8.94	2	BLB	3
211502	Simple	111315726	T	.	Conflict	1	4	Joubert syndrome;Meckel-Gruber syndrome;not specified;not provided	7/28/2017	-11.97	1	BLB	3
211590	Simple	34532796	G	.	Conflict	1	3	Nemaline myopathy 2;not specified	7/10/2017	-9.24	1.333333333	BLB	3
211669	Simple	151314714	T	.	Conflict	1	3	Atrial septal defect 7 with or without atrioventricular conduction defects;not specified	7/25/2017	-9.24	1	BLB	3
211715	Simple	199639292	A	.	Conflict	1	4	Weaver syndrome;not specified;Sotos Syndrome	6/14/2016	-12.21	1.75	BLB	3
211949	Simple	117173425	C	.	Conflict	1	4	"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not specified"	1/4/2017	-14.94	1.75	BLB	3
211978	Simple	150478342	T	.	Conflict	1	5	not specified;Warburg micro syndrome;not provided	1/25/2017	-12	1.2	BLB	3
211989	Simple	59190330	C	.	Conflict	1	4	not specified	2/20/2017	-8.64	2	BLB	3
212043	Simple	79610081	A	.	Conflict	1	4	"Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive"	8/7/2017	-15.3	0.75	BLB	3
212046	Simple	114647348	C	.	Conflict	1	4	"Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive"	4/26/2017	-12	0.75	BLB	3
212092	Simple	61739895	T	.	Conflict	1	6	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	6/12/2017	-18.24	1.166666667	BLB	3
212100	Simple	370634440	A	.	Conflict	1	5	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;Myopathy"	6/14/2016	-9.3	1.2	BLB	3
212113	Simple	797045938	AG	.	Conflict	1	3	not specified	7/17/2017	-8.64	1.666666667	BLB	3
212117	Simple	142571794	A	.	Conflict	1	4	Familial hemiplegic migraine;Seizure Disorders;not specified	6/14/2016	-9	1.25	BLB	3
212132	Simple	185590667	C	.	Conflict	1	4	"Benign familial neonatal-infantile seizures;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	12/12/2016	-9.24	1.5	BLB	3
212146	Simple	148071754	G	.	Conflict	1	5	Eichsfeld type congenital muscular dystrophy;not specified;SEPN1-Related Disorders	8/2/2017	-21.3	0.8	BLB	3
212220	Simple	7196345	A	.	Conflict	1	4	Fanconi anemia;not specified;not provided	6/16/2017	-12	1	BLB	3
212221	Simple	143818824	A	.	Conflict	1	4	Fanconi anemia;not specified;not provided	7/26/2017	-15	1	BLB	3
212237	Simple	141806282	G	.	Conflict	1	5	Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome	10/30/2017	-11.97	1	BLB	3
212240	Simple	117611401	A	.	Conflict	1	7	Rhabdoid tumor predisposition syndrome 2;not specified;not provided;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome	11/22/2017	-23.7	0.857142857	BLB	3
212242	Simple	372410282	T	.	Conflict	1	4	Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome	6/16/2017	-8.97	1.25	BLB	3
212247	Simple	149874634	T	.	Conflict	1	3	Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome	8/30/2017	-9.27	0.666666667	BLB	3
212254	Simple	144803359	T	.	Conflict	1	4	Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome	6/5/2017	-8.97	1.25	BLB	3
212255	Simple	372620534	A	.	Conflict	1	4	Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome	7/8/2017	-12.27	1	BLB	3
212398	Simple	377639087	-	.	Conflict	1	7	"Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive"	7/31/2017	-17.97	1.142857143	BLB	3
212405	Simple	149240122	C	.	Conflict	1	3	Joubert syndrome 14;not specified	1/27/2017	-8.94	2	BLB	3
212502	Simple	149903666	T	.	Conflict	1	4	"Leukodystrophy, hypomyelinating, 6;Dystonia;not specified"	7/19/2017	-12.24	1.25	BLB	3
212546	Simple	143538947	T	.	Conflict	1	3	"Mental retardation, syndromic 14, X-linked;Non-syndromic X-linked intellectual disability;not specified"	7/28/2017	-9.27	1	BLB	3
212617	Simple	79771882	A	.	Conflict	1	3	"Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified"	7/26/2017	-12.24	1.333333333	BLB	3
212824	Simple	2228298	T	.	Conflict	1	4	Homocystinuria due to CBS deficiency;Thoracic aortic aneurysm and aortic dissection;not specified	4/3/2017	-13.68	2.5	BLB	3
212842	Simple	775992753	A	.	Conflict	1	3	Homocystinuria due to CBS deficiency;Homocystinuria;not provided	12/8/2016	9.9	2	PLP	3
212915	Simple	149369116	T	.	Conflict	1	5	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified"	4/13/2017	-19.2	1.6	BLB	3
212929	Simple	576332528	T	.	Conflict	1	4	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified"	3/2/2017	-10.8	1.75	BLB	3
213007	Simple	116003670	A	.	Conflict	1	4	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not specified"	4/27/2017	-14.4	1.25	BLB	3
213084	Simple	148590409	C	.	Conflict	1	4	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified"	5/16/2017	-13.8	1.5	BLB	3
213090	Simple	549894501	C	.	Conflict	1	4	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified"	7/14/2017	-8.4	1.25	BLB	3
213106	Simple	150260969	C	.	Conflict	1	4	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;Thoracic aortic aneurysm and aortic dissection;not specified"	6/20/2017	-12.3	0.5	BLB	3
213156	Simple	146789395	A	.	Conflict	1	3	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified"	7/19/2017	-9.3	0.666666667	BLB	3
213212	Simple	863223538	T	.	Conflict	1	4	Osler hemorrhagic telangiectasia syndrome;not specified	7/27/2017	11.7	0.25	PLP	3
213259	Simple	146849637	T	.	Conflict	1	7	Congenital contractural arachnodactyly;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;not provided	9/6/2017	-24	0.428571429	B	3
213283	Simple	548605398	T	.	Conflict	1	4	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	6/14/2016	-8.85	2.5	BLB	3
213286	Simple	145259927	T	.	Conflict	1	6	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Brain Aneurysm	7/13/2017	-20.7	0.666666667	BLB	3
213328	Simple	199665922	C	.	Conflict	1	4	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	6/20/2017	-9.6	0.75	BLB	3
213371	Simple	371715068	G	.	Conflict	1	4	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	4/14/2017	-14.58	2	BLB	3
213460	Simple	200048692	A	.	Conflict	1	3	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified"	12/8/2016	-11.07	2	BLB	3
213671	Simple	370921440	T	.	Conflict	1	2	Shprintzen-Goldberg syndrome;not specified;not provided	5/15/2017	-8.4	1	BLB	3
213717	Simple	142106322	T	.	Conflict	1	4	Arterial tortuosity syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	5/12/2017	-10.5	1.75	BLB	3
213835	Simple	10482721	A	.	Conflict	1	3	Hirschsprung disease 1;Holt-Oram syndrome;Loeys-Dietz syndrome;not specified	8/4/2017	-15	0.666666667	BLB	3
213868	Simple	56014374	A	.	Conflict	1	6	Loeys-Dietz syndrome 1;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	7/26/2017	-15.27	0.833333333	BLB	3
213939	Simple	768385200	T	.	Conflict	1	7	Marfan syndrome;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	4/6/2017	-10.17	1	BLB	3
214144	Simple	181327211	T	.	Conflict	1	4	3-Methylglutaconic aciduria;not specified;not provided	9/1/2016	-13.5	1.75	BLB	3
214177	Simple	116046810	G	.	Conflict	1	5	not specified;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome	6/14/2016	-12.3	1	BLB	3
214636	Simple	138724074	T	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type 2;not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2"	7/17/2017	-11.4	1.25	BLB	3
215324	Simple	201685922	-	.	Conflict	1	7	"Mitochondrial DNA depletion syndrome 1 (MNGIE type);Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not specified;not provided;Fatal Infantile Cardioencephalomyopathy"	6/14/2016	-24.27	1.857142857	B	3
215358	Simple	138232538	A	.	Conflict	1	3	not specified;Monogenic diabetes	5/31/2016	-8.67	1.666666667	BLB	3
215375	Simple	200135768	T	.	Conflict	1	4	not specified;Monogenic diabetes	6/6/2017	-8.97	1.25	BLB	3
215417	Simple	149447502	T	.	Conflict	1	4	not specified;not provided;Mitochondrial myopathy and sideroblastic anemia;Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis	9/18/2017	-9	1	BLB	3
215435	Simple	767648965	C	.	Conflict	1	3	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome"	6/13/2017	-9.27	0.666666667	BLB	3
215441	Simple	144926928	A	.	Conflict	1	3	Long QT syndrome;Cardiovascular phenotype	5/23/2017	-9	1	BLB	3
215481	Simple	139468837	A	.	Conflict	1	4	Renal dysplasia and retinal aplasia;Nephronophthisis;not specified	6/30/2016	-14.1	1.5	BLB	3
215483	Simple	180787556	C	.	Conflict	1	4	Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome	6/14/2016	-12	1.25	BLB	3
215488	Simple	150878494	A	.	Conflict	1	4	Long QT syndrome;not specified;Cardiovascular phenotype	7/17/2017	-12	0.75	BLB	3
215497	Simple	187509039	T	.	Conflict	1	2	"Charcot-Marie-Tooth disease, type 2;not provided;Charcot-Marie-Tooth, Type 2"	10/31/2017	-9	0.5	BLB	3
215513	Simple	139770404	T	.	Conflict	1	4	Long QT syndrome;Romano-Ward syndrome;Cardiovascular phenotype	6/14/2016	-8.7	1.5	BLB	3
215516	Simple	147066476	T	.	Conflict	1	5	"Neuroblastoma;Pheochromocytoma;Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2"	7/31/2017	-12.9	0.8	BLB	3
215655	Simple	545552712	C	.	Conflict	1	4	Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	5/30/2017	-8.7	1.25	BLB	3
215822	Simple	369408590	G	.	Conflict	1	4	"Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome"	7/31/2017	-11.7	1	BLB	3
215831	Simple	201223411	A	.	Conflict	1	4	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	12/7/2016	-8.97	1.5	BLB	3
215877	Simple	757442952	C	.	Conflict	1	5	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome"	10/27/2017	-12.3	0.4	BLB	3
215921	Simple	56217500	C	.	Conflict	1	10	"Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia"	7/13/2017	-30.3	0.7	B	3
215934	Simple	769414858	-	.	Conflict	1	5	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	8/1/2017	-17.7	0.8	BLB	3
215968	Simple	139357821	T	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	7/25/2017	-9	1	BLB	3
215970	Simple	115660279	C	.	Conflict	1	5	Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified	5/7/2017	-9.9	0.8	BLB	3
216549	Simple	141840552	A	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type 2;not specified;not provided;Charcot-Marie-Tooth, Type 2"	5/17/2017	-9	0.333333333	BLB	3
216771	Simple	200573434	T	.	Conflict	1	3	"Spastic paraplegia 11, autosomal recessive;not specified;Spastic Paraplegia, Recessive"	7/3/2017	-9.3	0.333333333	BLB	3
217127	Simple	137985549	A	.	Conflict	1	5	"Multiple endocrine neoplasia, type 4;Primary hyperparathyroidism;not specified;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia"	6/13/2017	-9.54	1.2	BLB	3
217607	Simple	201502401	T	.	Conflict	1	5	Joubert syndrome;Meckel-Gruber syndrome;Joubert syndrome 9;not provided	6/14/2016	22.5	1.4	P	3
218329	Simple	52820871	G	.	Conflict	1	4	Obesity;not specified;not provided;Monogenic diabetes	5/12/2017	-9.27	1	BLB	3
218424	Simple	72667032	C	.	Conflict	1	5	Osteogenesis imperfecta type I;Osteogenesis imperfecta;not specified;not provided	7/24/2017	-19.8	1.4	BLB	3
218442	Simple	12714192	T	.	Conflict	1	6	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1"	6/26/2017	-20.67	1.166666667	BLB	3
218443	Simple	12713844	G	.	Conflict	1	7	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/6/2017	-29.07	1.142857143	B	3
218444	Simple	61736761	T	.	Conflict	1	6	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1"	6/27/2017	-20.67	1.166666667	BLB	3
218450	Simple	2163204	G	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1"	8/15/2017	-23.4	0.8	BLB	3
218451	Simple	72653095	A	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/8/2017	-18.24	1	BLB	3
218452	Simple	12720854	C	.	Conflict	1	7	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/8/2017	-18.81	1.142857143	BLB	3
218461	Simple	60794673	-	.	Conflict	1	6	Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome	7/6/2017	-29.07	1.166666667	B	3
218467	Simple	201679831	A	.	Conflict	1	7	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;Malignant hypothermia;RYR1-Related Disorders"	8/8/2017	-18.27	0.857142857	BLB	3
218542	Simple	140666848	C	.	Conflict	1	3	"Hirschsprung disease 1;not specified;Common variable immunodeficiency 8, with autoimmunity"	6/28/2017	-14.1	1.333333333	BLB	3
218583	Simple	72655967	A	.	Conflict	1	4	Primary ciliary dyskinesia;not specified;not provided	6/7/2017	-12.87	2	BLB	3
218630	Simple	144051775	T	.	Conflict	1	4	Bethlem myopathy 1;not specified	6/5/2017	-11.67	1.25	BLB	3
218680	Simple	202220778	G	.	Conflict	1	8	"not specified;not provided;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome;Colorectal cancer"	8/7/2017	-26.1	1	B	3
218707	Simple	142967124	A	.	Conflict	1	4	not specified;Spastic paraplegia	7/24/2017	-12	0.75	BLB	3
218713	Simple	193922695	GGAGGA	.	Conflict	1	9	Alstrom syndrome;Cardiomyopathy;not specified	8/19/2016	-15.45	1.777777778	BLB	3
218824	Simple	4019784	T	.	Conflict	1	3	Fanconi anemia;not specified	8/8/2016	-9	1.333333333	BLB	3
218873	Simple	151094543	G	.	Conflict	1	3	not specified;Hyper-IgE syndrome	9/27/2016	-8.7	1.333333333	BLB	3
218940	Simple	2234675	T	.	Conflict	1	4	Craniofacial deafness hand syndrome;Congenital diaphragmatic hernia;Waardenburg syndrome;not specified	6/14/2016	-11.04	2	BLB	3
219427	Simple	34263845	C	.	Conflict	1	4	"Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	9/13/2017	-9.6	0.5	BLB	3
219448	Simple	864622094	C	.	Conflict	1	3	Spastic paraplegia 7;not provided	7/31/2017	8.73	1	PLP	3
219609	Simple	79708848	C	.	Conflict	1	4	"Spastic paraplegia 11, autosomal recessive;not specified;Spastic Paraplegia, Recessive"	8/8/2017	-18.3	0.5	BLB	3
219711	Simple	150737854	T	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	6/30/2017	-9	1	BLB	3
219968	Simple	140985600	A	.	Conflict	1	5	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve"	8/7/2017	-12.6	0.8	BLB	3
220050	Simple	745522483	AAAACAAAAC	.	Conflict	1	10	Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified;not provided	6/13/2017	-14.07	1	BLB	3
220067	Simple	145183886	T	.	Conflict	1	7	Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal cancer	6/12/2017	-15.3	0.857142857	BLB	3
220091	Simple	147654263	A	.	Conflict	1	4	"Polycystic kidney disease, autosomal dominant;not specified;not provided"	7/27/2017	-15.27	1	BLB	3
220186	Simple	377279035	G	.	Conflict	1	5	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	6/13/2017	-10.5	2	BLB	3
220501	Simple	147494754	G	.	Conflict	1	4	Long QT syndrome;Romano-Ward syndrome;Cardiovascular phenotype	3/2/2017	-9.6	1	BLB	3
220611	Simple	749306433	G	.	Conflict	1	5	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	10/14/2017	-12.3	0.4	BLB	3
220622	Simple	147423696	A	.	Conflict	1	3	Long QT syndrome;Cardiovascular phenotype	7/3/2017	-9	1	BLB	3
220739	Simple	372169366	A	.	Conflict	1	3	"not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome"	8/17/2017	-9.3	0.333333333	BLB	3
220759	Simple	139801716	C	.	Conflict	1	3	Fanconi anemia;not specified	4/5/2017	-9.3	0.666666667	BLB	3
220800	Simple	149482336	T	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified"	12/15/2016	-9.3	1	BLB	3
220876	Simple	587780560	TT	.	Conflict	1	3	Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome	4/18/2017	-13.5	2	BLB	3
220930	Simple	147319762	C	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type 2;not specified;not provided;Charcot-Marie-Tooth, Type 2"	10/13/2017	-12	0.5	BLB	3
220958	Simple	35938843	T	.	Conflict	1	4	Long QT syndrome;Romano-Ward syndrome;Cardiovascular phenotype	7/10/2017	-12	1	BLB	3
220970	Simple	199993010	C	.	Conflict	1	4	Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-9	0.5	BLB	3
221002	Simple	115195341	A	.	Conflict	1	3	"Fanconi anemia;Fanconi anemia, complementation group E;not specified"	7/24/2017	-9.3	0.666666667	BLB	3
221032	Simple	764244718	A	.	Conflict	1	4	Melanoma-pancreatic cancer syndrome;not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome	8/8/2016	-12	1.25	BLB	3
221038	Simple	145473716	A	.	Conflict	1	7	Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome	8/3/2017	-21	0.714285714	BLB	3
221085	Simple	61732929	T	.	Conflict	1	7	"not specified;not provided;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome"	8/11/2017	-21	0.571428571	BLB	3
221139	Simple	772468675	G	.	Conflict	1	4	Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome	7/24/2017	-9	0.75	BLB	3
221194	Simple	148429731	G	.	Conflict	1	4	Primary ciliary dyskinesia;not specified;not provided	5/2/2017	-12.9	1.5	BLB	3
224343	Simple	772465423	-	.	Conflict	1	2	Townes-Brocks syndrome 1;not specified	8/30/2016	-9	1	BLB	3
224380	Simple	144157950	T	.	Conflict	1	9	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;Malignant hypothermia;RYR1-Related Disorders"	4/26/2017	-26.07	1.444444444	B	3
224382	Simple	192863857	T	.	Conflict	1	6	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified"	10/23/2017	-12.51	1.333333333	BLB	3
224402	Simple	151119428	A	.	Conflict	1	6	"Central core disease;Malignant hyperthermia, susceptibility to, 1;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified"	6/5/2017	-12.51	1.333333333	BLB	3
224619	Simple	116405216	A	.	Conflict	1	6	Familial hypercholesterolemia	7/21/2017	-9.27	1	BLB	3
224620	Simple	13306498	T	.	Conflict	1	5	Familial hypercholesterolemia	7/31/2017	-18	0.4	BLB	3
224705	Simple	878854398	-	.	Conflict	1	4	Bethlem myopathy 1;Ullrich congenital muscular dystrophy 1;not specified;not provided	12/23/2015	13.23	2	PLP	3
225029	Simple	144860976	G	.	Conflict	1	3	Absent corpus callosum cataract immunodeficiency;not provided;Inborn genetic diseases	10/31/2017	-9.21	1.666666667	BLB	3
225097	Simple	769446356	T	.	Conflict	1	4	Familial hypercholesterolemia;not provided;Inborn genetic diseases	8/24/2017	8.4	1	PLP	3
225282	Simple	116347156	T	.	Conflict	1	5	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified	5/15/2017	-12.57	1	BLB	3
225318	Simple	141430703	A	.	Conflict	1	8	"Deafness, autosomal recessive 53;Deafness, autosomal dominant 13;Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant"	8/3/2016	-26.7	1.125	B	3
225327	Simple	114052315	A	.	Conflict	1	4	"Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis 8;Leber congenital amaurosis;Retinitis Pigmentosa, Recessive"	6/14/2016	-9.3	1	BLB	3
225346	Simple	2070591	T	.	Conflict	1	4	"Hirschsprung disease 2;Waardenburg syndrome;not specified;Hirschsprung Disease, Recessive"	6/14/2016	-11.7	1.25	BLB	3
225378	Simple	144090917	T	.	Conflict	1	3	Non-ketotic hyperglycinemia;not specified	7/19/2017	-9.3	0.666666667	BLB	3
225404	Simple	202207965	AA	.	Conflict	1	3	"Donnai Barrow syndrome;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE;Disorders of Intracellular Cobalamin Metabolism"	7/26/2017	-9.3	0.666666667	BLB	3
225411	Simple	33932559	C	.	Conflict	1	3	Cutaneous malignant melanoma 5;not specified;Malignant Melanoma Susceptibility	4/7/2017	-9.3	0.666666667	BLB	3
225437	Simple	147859619	C	.	Conflict	1	4	Familial X-linked hypophosphatemic vitamin D refractory rickets;not specified	2/21/2017	-12.3	1	BLB	3
226082	Simple	2229249	G	.	Conflict	1	4	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified	5/12/2017	-16.5	1.5	BLB	3
226304	Simple	2228671	G	.	Conflict	1	6	Familial hypercholesterolemia	3/30/2017	14.4	1.166666667	PLP	3
226332	Simple	577934998	C	.	Conflict	1	3	Familial hypercholesterolemia	3/30/2017	8.7	0.666666667	PLP	3
226344	Simple	761954844	A	.	Conflict	1	4	Familial hypercholesterolemia	12/16/2016	8.4	1.25	PLP	3
226353	Simple	28942078	C	.	Conflict	1	2	Familial hypercholesterolemia	3/25/2016	8.4	1.5	PLP	3
226365	Simple	397509365	C	.	Conflict	1	5	Familial hypercholesterolemia	12/16/2016	18.9	1.6	P	3
226368	Simple	17248882	A	.	Conflict	1	11	Familial hypercholesterolemia;not specified	7/27/2017	-32.67	1.090909091	B	3
226380	Simple	754536745	A	.	Conflict	1	4	Familial hypercholesterolemia	3/30/2017	11.43	1.25	PLP	3
226393	Simple	750518671	A	.	Conflict	1	9	Familial hypercholesterolemia;not provided	8/4/2017	29.16	1	P	3
226489	Simple	61739354	T	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	7/25/2017	-9.9	2	BLB	3
226559	Simple	121913002	T	.	Conflict	1	4	"Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Cardiovascular phenotype"	6/19/2017	-14.67	1	BLB	3
226574	Simple	149158199	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/12/2017	-11.7	1	BLB	3
226577	Simple	116185352	T	.	Conflict	1	4	Primary ciliary dyskinesia;not specified	8/7/2017	-15.3	2	BLB	3
226579	Simple	182389910	A	.	Conflict	1	4	Primary ciliary dyskinesia;not specified;not provided	7/31/2017	-14.7	1	BLB	3
226583	Simple	72655983	C	.	Conflict	1	4	Primary ciliary dyskinesia;not specified	8/14/2017	-15.9	1.75	BLB	3
226590	Simple	72657379	A	.	Conflict	1	4	Primary ciliary dyskinesia;not specified	2/24/2017	-15.9	2	BLB	3
226597	Simple	34076967	T	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	3/28/2017	-9.9	2	BLB	3
226600	Simple	35963491	G	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/7/2017	-9.9	2	BLB	3
226601	Simple	6880264	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/14/2017	-9.9	2	BLB	3
226604	Simple	141389162	C	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/7/2017	-9.9	2	BLB	3
226608	Simple	77344166	G	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	4/5/2017	-9.9	2	BLB	3
226609	Simple	78865254	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	1/19/2017	-9.9	2.333333333	BLB	3
226710	Simple	2738442	C	.	Conflict	1	6	Familial hypercholesterolemia;not specified	6/22/2017	-21.54	1.166666667	BLB	3
226763	Simple	147735490	A	.	Conflict	1	3	"Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified"	7/31/2017	-11.7	1	BLB	3
226781	Simple	372125621	C	.	Conflict	1	3	"not specified;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-11.1	1.666666667	BLB	3
226812	Simple	73373171	A	.	Conflict	1	2	not specified;Hypertrophic cardiomyopathy	6/21/2017	-11.4	1	BLB	3
226843	Simple	73967567	C	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	5/15/2017	-11.1	1.333333333	BLB	3
227010	Simple	545191822	TGTTTGTT	.	Conflict	1	3	not specified	3/29/2017	-10.5	1.666666667	BLB	3
227141	Simple	12615797	G	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	9/25/2017	-16.2	0.888888889	BLB	3
227333	Simple	148118523	A	.	Conflict	1	4	Congenital disorder of glycosylation type 1M;Congenital disorder of glycosylation;not specified	10/10/2017	-9	0.75	BLB	3
227337	Simple	374810953	A	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified"	8/1/2017	-8.7	1	BLB	3
227342	Simple	372440854	T	.	Conflict	1	7	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	6/14/2016	-9.3	1.428571429	BLB	3
227351	Simple	11570344	AA	.	Conflict	1	4	"Waardenburg syndrome;not specified;Hirschsprung Disease, Dominant"	6/15/2016	-9	1.25	BLB	3
227451	Simple	202038498	T	.	Conflict	1	6	"Naxos disease;Arrhythmogenic right ventricular cardiomyopathy, type 12;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	8/21/2017	-15.3	0.666666667	BLB	3
227584	Simple	61742472	A	.	Conflict	1	6	"Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant"	10/20/2016	-9.3	1.333333333	BLB	3
227624	Simple	185681684	A	.	Conflict	1	5	"Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified"	6/14/2017	-12	1	BLB	3
227625	Simple	113607507	A	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified"	9/25/2017	-12	0.75	BLB	3
227722	Simple	143574079	G	.	Conflict	1	4	not specified;Dilated cardiomyopathy 1KK;Cardiovascular phenotype	7/25/2017	-9	0.75	BLB	3
227933	Simple	560476223	A	.	Conflict	1	10	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	6/18/2016	-16.2	1.2	BLB	3
227978	Simple	779963634	T	.	Conflict	1	4	"Epileptic encephalopathy, early infantile, 1;Myoclonic epilepsy, familial infantile;not specified;Deafness, autosomal dominant 65;Caused by mutation in the TBC1 domain family, member 24"	8/22/2016	-8.7	1.5	BLB	3
228526	Simple	201399429	A	.	Conflict	1	6	"Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant"	6/14/2016	-15.27	1.166666667	BLB	3
228592	Simple	140913030	G	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	4/20/2016	-8.97	1.666666667	BLB	3
228678	Simple	139717960	A	.	Conflict	1	4	Otofaciocervical syndrome 1;Branchiootorenal Spectrum Disorders;not specified;not provided	5/2/2017	-9.24	1.25	BLB	3
228686	Simple	200841830	T	.	Conflict	1	10	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis	6/14/2016	-29.67	1.2	B	3
228691	Simple	767671406	-	.	Conflict	1	5	Multiple fibrofolliculomas;not specified;not provided;Hereditary cancer-predisposing syndrome	8/4/2017	17.43	0.6	P	3
229239	Simple	140927806	T	.	Conflict	1	4	"Bronchiectasis with or without elevated sweat chloride 1;Pseudoprimary hyperaldosteronism;not specified;Pseudohypoaldosteronism, Type I, Recessive"	6/14/2016	-9.27	1.25	BLB	3
230075	Simple	769849072	T	.	Conflict	1	4	Familial cancer of breast;not specified;Hereditary cancer-predisposing syndrome	7/5/2017	-11.1	1.25	BLB	3
230091	Simple	199715101	A	.	Conflict	1	4	Familial cancer of breast;not specified;not provided;Hereditary cancer-predisposing syndrome	10/2/2017	-8.7	1	BLB	3
230446	Simple	749156425	T	.	Conflict	1	6	Familial cancer of breast;not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal cancer	8/29/2017	-12	1	BLB	3
230618	Simple	759520915	T	.	Conflict	1	5	Juvenile polyposis syndrome;not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis	3/16/2017	-11.7	1.2	BLB	3
231225	Simple	143097772	T	.	Conflict	1	4	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	11/7/2017	-11.4	1	BLB	3
231250	Simple	8176154	C	.	Conflict	1	4	Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome	7/27/2017	-9	0.75	BLB	3
231928	Simple	201222237	A	.	Conflict	1	3	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	7/10/2017	-8.7	1	BLB	3
232743	Simple	200917541	A	.	Conflict	1	5	not specified;Neoplasm of the breast;Hereditary cancer-predisposing syndrome;Colorectal cancer	9/29/2016	-9	1.4	BLB	3
233424	Simple	756363734	A	.	Conflict	1	4	"Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome"	12/14/2016	8.4	1.25	PLP	3
233951	Simple	876660754	T	.	Conflict	1	3	Liver cancer;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Small cell lung cancer;Adenocarcinoma of lung;Li-Fraumeni syndrome;not provided;Neoplasm of brain;Neoplasm of the breast;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Brainstem glioma;Carcinoma of esophagus;Colorectal Neoplasms;Adrenocortical carcinoma;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus	6/23/2017	8.4	1	PLP	3
234290	Simple	147946775	G	.	Conflict	1	6	"Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome;Cryopyrin associated periodic syndrome"	7/19/2017	-12.6	0.666666667	BLB	3
234293	Simple	139814109	T	.	Conflict	1	4	"Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;Familial cold autoinflammatory syndrome"	11/3/2016	-9.3	1	BLB	3
234820	Simple	79805025	T	.	Conflict	1	11	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;not provided;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	3/29/2017	-30.57	0.909090909	B	3
234924	Simple	200440467	T	.	Conflict	1	4	"Spastic paraplegia 52, autosomal recessive;not specified;not provided;Spastic paraplegia"	11/9/2017	14.73	0.75	PLP	3
235232	Simple	76253513	A	.	Conflict	1	3	Congenital disorder of glycosylation;not specified;not provided	6/14/2016	-8.4	1.666666667	BLB	3
235235	Simple	61754130	C	.	Conflict	1	5	"Hereditary spastic paraplegia;not specified;not provided;Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant"	8/2/2017	-18	0.4	BLB	3
235367	Simple	72761794	T	.	Conflict	1	3	Ch??diak-Higashi syndrome;not provided	8/4/2017	-9.3	0.666666667	BLB	3
235385	Simple	75820839	C	.	Conflict	1	3	Early infantile epileptic encephalopathy 12;not specified;not provided	8/10/2017	-9.27	1	BLB	3
235392	Simple	41312254	A	.	Conflict	1	3	Gamma-aminobutyric acid transaminase deficiency;not provided	7/31/2017	-9	1	BLB	3
235404	Simple	147543583	T	.	Conflict	1	3	Three M syndrome;not specified;not provided	6/14/2016	-11.1	1.666666667	BLB	3
235607	Simple	35799469	C	.	Conflict	1	4	Spastic ataxia Charlevoix-Saguenay type;not specified;not provided;Spastic paraplegia	6/16/2017	-14.4	1.25	BLB	3
235608	Simple	144971200	C	.	Conflict	1	3	Non-ketotic hyperglycinemia;not provided	6/20/2017	-9	1	BLB	3
235634	Simple	145178162	A	.	Conflict	1	4	"Spastic paraplegia 39;not specified;not provided;Spastic Paraplegia, Recessive"	8/8/2017	-14.7	1	BLB	3
235661	Simple	760502262	T	.	Conflict	1	3	not specified;not provided;Spastic paraplegia	5/30/2017	-9.27	1	BLB	3
236058	Simple	140236996	T	.	Conflict	1	4	"Deafness, autosomal dominant 12;not provided;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive"	2/27/2017	17.7	1	P	3
236075	Simple	201150919	A	.	Conflict	1	5	"Stargardt disease 1;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	6/14/2016	-12.27	1.2	BLB	3
236083	Simple	201602424	A	.	Conflict	1	5	"Stargardt disease 1;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	6/14/2016	-12.27	1.2	BLB	3
236787	Simple	566485657	C	.	Conflict	1	5	Ataxia-telangiectasia syndrome;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-11.7	1.2	BLB	3
236807	Simple	200850440	G	.	Conflict	1	3	Bloom syndrome;not specified;Hereditary cancer-predisposing syndrome	7/31/2017	-9.27	1	BLB	3
236819	Simple	28377085	G	.	Conflict	1	3	Bloom syndrome;Hereditary cancer-predisposing syndrome	4/10/2017	-9.3	0.666666667	BLB	3
237013	Simple	139983160	T	.	Conflict	1	3	"Emery-Dreifuss muscular dystrophy 1, X-linked;not specified"	6/8/2017	-8.67	1.333333333	BLB	3
237090	Simple	145040593	A	.	Conflict	1	3	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD)	3/8/2017	-8.7	1	BLB	3
237106	Simple	187553035	T	.	Conflict	1	10	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	9/7/2016	-27.3	1	B	3
237128	Simple	1042819	T	.	Conflict	1	4	Lynch syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	7/5/2017	-8.4	1.5	BLB	3
237226	Simple	112113213	T	.	Conflict	1	8	short QT syndrome;Long QT syndrome;Romano-Ward syndrome;not specified;Familial atrial fibrillation;Cardiovascular phenotype;Jervell and Lange-Nielsen syndrome	6/13/2017	-20.97	1.125	BLB	3
237628	Simple	143581690	T	.	Conflict	1	3	"Polycystic kidney disease, autosomal dominant;not specified"	12/29/2016	-11.7	1.333333333	BLB	3
237660	Simple	4151534	A	.	Conflict	1	3	Retinoblastoma;Hereditary cancer-predisposing syndrome	8/12/2017	-9.3	0.333333333	BLB	3
237735	Simple	61744153	A	.	Conflict	1	9	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/14/2017	-21.57	1	BLB	3
237739	Simple	72654423	C	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1"	8/15/2017	-14.94	1.2	BLB	3
237751	Simple	6413458	A	.	Conflict	1	6	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/15/2017	-24.27	0.833333333	B	3
237758	Simple	115230894	A	.	Conflict	1	6	"Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia;Hypocalcemia, autosomal dominant 1"	7/28/2017	-15.3	0.666666667	BLB	3
237762	Simple	150869744	T	.	Conflict	1	6	"Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;not specified;Hypocalcemia;Hypocalcemia, autosomal dominant 1"	6/3/2017	-15.27	1	BLB	3
237787	Simple	755746417	A	.	Conflict	1	5	Peutz-Jeghers syndrome;not specified;Hereditary cancer-predisposing syndrome	8/20/2017	-9.6	0.2	BLB	3
237855	Simple	371315549	C	.	Conflict	1	4	Cystic fibrosis;not specified	5/8/2017	-9.27	1	BLB	3
237869	Simple	5926	T	.	Conflict	1	7	Familial hypercholesterolemia;not specified	7/24/2017	-27.54	1	B	3
237877	Simple	533551639	T	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	4/3/2017	-9	0.75	BLB	3
237931	Simple	753803330	T	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	10/27/2017	-9	0.75	BLB	3
237956	Simple	730882008	T	.	Conflict	1	4	"Liver cancer;Malignant lymphoma, non-Hodgkin;Malignant melanoma of skin;Squamous cell carcinoma of the head and neck;Adenocarcinoma of lung;Kidney cancer;Li-Fraumeni syndrome;Squamous cell carcinoma of lung;not specified;Neoplasm of brain;Neoplasm of the breast;Glioblastoma;Renal cell carcinoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Pancreatic adenocarcinoma;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Carcinoma of esophagus;Colorectal Neoplasms;Adenocarcinoma of stomach;Ovarian Serous Cystadenocarcinoma;Malignant neoplasm of body of uterus;Adenocarcinoma of prostate"	7/27/2017	14.7	0.75	PLP	3
237987	Simple	150672640	A	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/3/2017	-12.3	0.25	BLB	3
238117	Simple	878854131	-	.	Conflict	1	3	Werner syndrome	7/18/2017	11.1	1	PLP	3
238219	Simple	201118405	T	.	Conflict	1	4	"Neurodegeneration with brain iron accumulation 4;not specified;Spastic paraplegia 43, autosomal recessive"	6/27/2017	-15.3	0.5	BLB	3
238220	Simple	202054484	T	.	Conflict	1	3	"Neurodegeneration with brain iron accumulation 4;not specified;Spastic paraplegia 43, autosomal recessive"	6/14/2016	-8.4	1.666666667	BLB	3
238279	Simple	117667651	A	.	Conflict	1	4	Joubert syndrome;Meckel-Gruber syndrome;not specified	6/14/2016	-8.7	1.5	BLB	3
238312	Simple	139814895	G	.	Conflict	1	3	Fanconi anemia;not provided	6/21/2017	-9.3	0.666666667	BLB	3
238317	Simple	118031800	C	.	Conflict	1	3	Fanconi anemia;not provided	6/21/2017	-9.3	0.666666667	BLB	3
238319	Simple	79685648	C	.	Conflict	1	3	Fanconi anemia;not provided	7/13/2017	-9.3	0.333333333	BLB	3
238320	Simple	138675752	T	.	Conflict	1	3	Fanconi anemia;not specified	6/27/2017	-9.3	0.666666667	BLB	3
238361	Simple	372379166	T	.	Conflict	1	4	Rhabdoid tumor predisposition syndrome 2;not specified;Hereditary cancer-predisposing syndrome;Coffin-Siris syndrome	8/29/2017	-12	0.75	BLB	3
238566	Simple	142908806	A	.	Conflict	1	3	Long QT syndrome;not specified	7/18/2017	-12.3	0.666666667	BLB	3
238585	Simple	140926982	G	.	Conflict	1	3	Long QT syndrome;Cardiovascular phenotype	6/27/2017	-9.3	0.666666667	BLB	3
238684	Simple	150362958	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/15/2017	-12.3	0.666666667	BLB	3
238929	Simple	140048925	A	.	Conflict	1	4	Primary ciliary dyskinesia;not specified;not provided	8/7/2017	-12	0.75	BLB	3
238937	Simple	72657371	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified;not provided	4/27/2017	-9.3	0.666666667	BLB	3
238951	Simple	878854453	-	.	Conflict	1	3	Dyskeratosis congenita;not specified	4/24/2017	-8.97	1.333333333	BLB	3
238962	Simple	61744047	T	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	8/14/2017	-12.3	0.666666667	BLB	3
238995	Simple	138571942	A	.	Conflict	1	5	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	12/17/2016	-9.9	1	BLB	3
239082	Simple	78484531	A	.	Conflict	1	4	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection;not specified	5/30/2017	-14.7	1	BLB	3
239309	Simple	368965066	T	.	Conflict	1	3	Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome	7/28/2017	-9.3	0.333333333	BLB	3
239382	Simple	200069356	A	.	Conflict	1	4	"Carney complex, type 1;Carney complex;Hereditary cancer-predisposing syndrome;Acrodysostosis"	7/12/2017	-9.3	0.5	BLB	3
239398	Simple	762247126	A	.	Conflict	1	4	"Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome;Breast and Ovarian Cancer Susceptibility"	7/5/2017	-9.3	0.75	BLB	3
239509	Simple	146099322	A	.	Conflict	1	3	not specified;not provided;Dystonia	10/31/2017	-11.4	1	BLB	3
239522	Simple	45477900	T	.	Conflict	1	4	"not specified;Loeys-Dietz syndrome 4;Cardiovascular phenotype;Cardiomyopathy, ARVC"	8/2/2017	-12	0.75	BLB	3
239604	Simple	199643655	T	.	Conflict	1	4	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B	6/14/2016	-8.67	1.75	BLB	3
239614	Simple	370724251	T	.	Conflict	1	4	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B;Cardiovascular phenotype	7/25/2017	-12	0.75	BLB	3
239904	Simple	750722169	C	.	Conflict	1	4	Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome	5/3/2017	-9.3	0.75	BLB	3
240047	Simple	150524807	A	.	Conflict	1	4	Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome	8/1/2017	-9	1	BLB	3
240146	Simple	756795016	G	.	Conflict	1	6	Myhre syndrome;Juvenile polyposis syndrome;Osler hemorrhagic telangiectasia syndrome;Hereditary cancer-predisposing syndrome;Juvenile Polyposis	6/5/2017	-9.6	1	BLB	3
240388	Simple	142373951	T	.	Conflict	1	4	"not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome"	8/2/2017	-12	0.75	BLB	3
240537	Simple	5744948	G	.	Conflict	1	3	"not specified;Colorectal cancer, susceptibility to, 12"	5/30/2017	-9.3	0	BLB	3
240573	Simple	375198950	A	.	Conflict	1	3	"not specified;not provided;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome"	10/31/2017	-8.7	1	BLB	3
240699	Simple	112133109	A	.	Conflict	1	4	"Spastic paraplegia 39;not specified;Spastic Paraplegia, Recessive"	7/16/2017	-18.3	0.75	BLB	3
240890	Simple	137856939	C	.	Conflict	1	3	Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia	6/12/2017	-9.3	0.666666667	BLB	3
240893	Simple	116791509	T	.	Conflict	1	3	Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia	9/9/2016	-12.3	1	BLB	3
240894	Simple	112630127	C	.	Conflict	1	3	Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia	9/9/2016	-12.3	1	BLB	3
240898	Simple	148878361	C	.	Conflict	1	4	Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia	7/14/2017	-12	1	BLB	3
240901	Simple	146722795	T	.	Conflict	1	3	Spastic ataxia Charlevoix-Saguenay type;not specified;Spastic paraplegia	3/14/2017	-9.3	0.666666667	BLB	3
240950	Simple	878854991	A	.	Conflict	1	3	"Spastic paraplegia 4, autosomal dominant;not specified"	11/10/2017	11.13	1.333333333	PLP	3
241000	Simple	188807564	T	.	Conflict	1	4	Alstrom syndrome;not specified;Monogenic diabetes	11/8/2017	-9.27	1	BLB	3
241080	Simple	141950577	C	.	Conflict	1	3	Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome	8/3/2017	-12.3	0.333333333	BLB	3
241081	Simple	189234140	A	.	Conflict	1	3	Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome	8/3/2017	-9.3	0.333333333	BLB	3
241086	Simple	35166585	C	.	Conflict	1	3	Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome	8/3/2017	-12.3	0.333333333	BLB	3
241106	Simple	186745328	T	.	Conflict	1	3	"Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not specified;not provided"	9/21/2017	-9.3	0.333333333	BLB	3
241173	Simple	56118173	G	.	Conflict	1	3	Progressive familial heart block type 1B;not specified;Progressive familial heart block	7/10/2017	-9.3	0.333333333	BLB	3
241176	Simple	71352737	A	.	Conflict	1	3	Progressive familial heart block type 1B;Sudden cardiac death;not specified	5/5/2017	-9	0.666666667	BLB	3
241190	Simple	117506164	A	.	Conflict	1	5	CHARGE association;Hypogonadism with anosmia;not specified	7/21/2017	-18.27	1	BLB	3
241319	Simple	77532752	T	.	Conflict	1	3	Fanconi anemia;not specified	4/20/2017	-9.3	0.666666667	BLB	3
241337	Simple	377130948	T	.	Conflict	1	4	"Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2;not specified"	1/25/2017	-9	1.25	BLB	3
241343	Simple	145122337	A	.	Conflict	1	6	"Pheochromocytoma;Renal adysplasia;Multiple endocrine neoplasia, type 2;Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Hirschsprung Disease, Dominant"	7/18/2017	-10.2	0.666666667	BLB	3
241440	Simple	45556032	A	.	Conflict	1	3	Fanconi anemia;not specified	7/24/2017	-9.3	0.666666667	BLB	3
241441	Simple	201215734	A	.	Conflict	1	3	Fanconi anemia;not specified	7/11/2017	-9.3	0.666666667	BLB	3
241461	Simple	147632811	T	.	Conflict	1	4	not specified;not provided;Spastic paraplegia	5/11/2017	-9	0.75	BLB	3
241500	Simple	138411915	A	.	Conflict	1	5	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve"	8/2/2017	-14.7	1.2	BLB	3
241503	Simple	17795193	A	.	Conflict	1	5	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve"	7/14/2017	-18	1	BLB	3
241575	Simple	145436538	C	.	Conflict	1	4	Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified	8/8/2016	-9	1.25	BLB	3
241577	Simple	62624978	G	.	Conflict	1	3	"Dyskeratosis congenita;not specified;Dyskeratosis Congenita, Recessive"	7/19/2017	-12.3	0.666666667	BLB	3
241581	Simple	200643329	C	.	Conflict	1	3	"Dyskeratosis congenita;not specified;Dyskeratosis Congenita, Recessive"	6/9/2017	-9.3	0.666666667	BLB	3
241596	Simple	116807842	G	.	Conflict	1	3	"Spastic paraplegia 11, autosomal recessive;not specified;Spastic Paraplegia, Recessive"	7/20/2017	-9.3	0.666666667	BLB	3
241609	Simple	140730386	A	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	7/14/2017	-9.3	0.666666667	BLB	3
241670	Simple	143279888	C	.	Conflict	1	3	Fanconi anemia;not specified	4/22/2017	-9.3	0.666666667	BLB	3
241676	Simple	117707719	A	.	Conflict	1	3	Fanconi anemia;not specified	7/28/2017	-9	1	BLB	3
241747	Simple	148846096	A	.	Conflict	1	4	Long QT syndrome;not specified;Cardiovascular phenotype	3/3/2017	-11.4	1.75	BLB	3
241793	Simple	374749001	T	.	Conflict	1	3	"Multiple endocrine neoplasia, type 1;not specified"	1/25/2017	-9.3	1	BLB	3
241843	Simple	139815340	A	.	Conflict	1	3	Autosomal recessive polycystic kidney disease;not specified	11/18/2016	-11.7	1.333333333	BLB	3
242028	Simple	41297883	T	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, 3;Familial hypobetalipoproteinemia;Familial hypercholesterolemia"	8/21/2017	-15.27	0.8	BLB	3
242203	Simple	370114378	A	.	Conflict	1	10	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Cardiovascular phenotype;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	6/14/2016	-12.9	1.3	BLB	3
242230	Simple	34528119	A	.	Conflict	1	5	"Idiopathic fibrosing alveolitis, chronic form;Aplastic anemia;Dyskeratosis congenita, autosomal dominant, 2;not specified;Dyskeratosis Congenita, Recessive"	7/30/2017	-15.27	1	BLB	3
242255	Simple	11564716	T	.	Conflict	1	3	"Segawa syndrome, autosomal recessive;not specified;Dystonia"	7/27/2017	-12.3	0.666666667	BLB	3
242263	Simple	76956014	A	.	Conflict	1	3	Brugada syndrome 4;Brugada syndrome;Cardiovascular phenotype	8/4/2017	-11.7	1	BLB	3
242305	Simple	200771233	G	.	Conflict	1	3	"Pyogenic arthritis, pyoderma gangrenosum and acne;not specified"	7/7/2017	-9.3	0.666666667	BLB	3
245621	Simple	145005918	T	.	Conflict	1	3	"Mental retardation, autosomal dominant 6;not specified;Epileptic encephalopathy, early infantile, 27;Intellectual Disability, Dominant"	10/11/2016	-9	1.333333333	BLB	3
245634	Simple	10979599	T	.	Conflict	1	4	Familial dysautonomia;not specified;not provided	7/1/2017	-12.3	0.25	BLB	3
245637	Simple	183359489	T	.	Conflict	1	6	"Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;not provided;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive"	8/4/2017	-12.9	0.833333333	BLB	3
245659	Simple	111400494	A	.	Conflict	1	4	"Distal spinal muscular atrophy, autosomal recessive 4;not specified;not provided;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy"	10/31/2017	-11.7	1	BLB	3
245663	Simple	148939995	T	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type IV;not specified"	9/22/2017	-9	0.75	BLB	3
245675	Simple	141295418	A	.	Conflict	1	8	"Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia"	3/9/2017	-24.3	0.875	B	3
245685	Simple	200887429	A	.	Conflict	1	5	"Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2"	7/14/2017	-9.6	0.6	BLB	3
245777	Simple	879253942	G	.	Conflict	1	3	Li-Fraumeni syndrome;not provided;Hereditary cancer-predisposing syndrome	5/11/2017	11.1	1	PLP	3
245862	Simple	150066950	T	.	Conflict	1	4	Colorectal cancer 10;not specified;not provided;Hereditary cancer-predisposing syndrome	8/16/2017	-12	0.5	BLB	3
246130	Simple	145427269	A	.	Conflict	1	3	"not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome"	8/3/2017	-9.3	0.666666667	BLB	3
246184	Simple	140786088	A	.	Conflict	1	3	"not specified;Charcot-Marie-Tooth disease type 2P;Charcot-Marie-Tooth, Type 2"	7/6/2017	-9.27	1	BLB	3
246185	Simple	143793213	A	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type I;not specified;Charcot-Marie-Tooth, Type 1"	6/20/2017	-9.27	1	BLB	3
246556	Simple	201241092	T	.	Conflict	1	8	"Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia"	8/7/2016	-18.6	1	BLB	3
246572	Simple	202176679	G	.	Conflict	1	7	"Roussy-L??vy syndrome;Congenital hypomyelinating neuropathy;Charcot-Marie-Tooth disease, type I;not specified;Charcot-Marie-Tooth, Type 1;Charcot-Marie-Tooth, Intermediate"	8/2/2017	-18.3	0.857142857	BLB	3
246675	Simple	144275591	T	.	Conflict	1	7	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiovascular phenotype;Cardiomyopathy, ARVC"	10/23/2017	-12.9	0.857142857	BLB	3
250933	Simple	.	.	.	Conflict	1	4	Familial hypercholesterolemia	3/25/2016	16.53	1.75	P	3
250964	Simple	376011618	G	.	Conflict	1	2	Familial hypercholesterolemia	3/25/2016	-8.4	1.5	BLB	3
251012	Simple	72658855	T	.	Conflict	1	6	Familial hypercholesterolemia;not specified	7/21/2017	-27.27	0.833333333	B	3
251105	Simple	749038326	A	.	Conflict	1	5	Familial hypercholesterolemia;not provided	5/3/2017	14.7	0.8	PLP	3
251112	Simple	879254456	G	.	Conflict	1	3	Familial hypercholesterolemia	8/4/2017	8.73	1	PLP	3
251162	Simple	774723292	T	.	Conflict	1	3	Familial hypercholesterolemia	3/30/2017	8.7	0.666666667	PLP	3
251406	Simple	199540175	T	.	Conflict	1	3	Familial hypercholesterolemia	4/12/2017	-9.27	1	BLB	3
251510	Simple	767618089	G	.	Conflict	1	3	Familial hypercholesterolemia	3/30/2017	8.4	1	PLP	3
251519	Simple	879254717	C	.	Conflict	1	3	Familial hypercholesterolemia	3/30/2017	8.7	0.666666667	PLP	3
251525	Simple	879254719	A	.	Conflict	1	4	Familial hypercholesterolemia	12/16/2016	8.7	1	PLP	3
251548	Simple	55792959	T	.	Conflict	1	4	Familial hypercholesterolemia	3/6/2017	-9.54	1.25	BLB	3
251552	Simple	879254734	A	.	Conflict	1	3	Familial hypercholesterolemia	12/16/2016	11.7	1.333333333	PLP	3
251611	Simple	748300548	T	.	Conflict	1	3	Familial hypercholesterolemia	12/16/2016	11.73	1.333333333	PLP	3
251665	Simple	768430352	A	.	Conflict	1	5	Familial hypercholesterolemia	3/30/2017	11.46	1.2	PLP	3
251706	Simple	879254821	A	.	Conflict	1	3	Familial hypercholesterolemia	3/30/2017	8.73	1	PLP	3
251774	Simple	745343524	G	.	Conflict	1	4	Familial hypercholesterolemia	3/30/2017	11.4	1	PLP	3
251790	Simple	879254866	C	.	Conflict	1	4	Familial hypercholesterolemia	3/30/2017	11.73	1	PLP	3
251926	Simple	746939188	A	.	Conflict	1	3	Familial hypercholesterolemia	12/16/2016	11.73	1.333333333	PLP	3
252035	Simple	879255025	C	.	Conflict	1	4	Familial hypercholesterolemia	3/30/2017	11.4	1	PLP	3
252077	Simple	.	.	.	Conflict	1	4	Familial hypercholesterolemia	3/25/2016	10.86	1.75	PLP	3
252096	Simple	555292896	G	.	Conflict	1	3	Familial hypercholesterolemia;not specified	9/8/2017	-9	0.666666667	BLB	3
252219	Simple	201573863	T	.	Conflict	1	7	Familial hypercholesterolemia	3/30/2017	17.46	1.142857143	P	3
252258	Simple	370018159	T	.	Conflict	1	3	Familial hypercholesterolemia	7/19/2017	11.7	0.666666667	PLP	3
252298	Simple	750518671	T	.	Conflict	1	3	Familial hypercholesterolemia	3/30/2017	8.73	1	PLP	3
252330	Simple	773618064	GG	.	Conflict	1	8	Familial hypercholesterolemia;not provided	3/30/2017	39.9	1.125	P	3
252466	Simple	148095899	A	.	Conflict	1	4	Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome	6/14/2016	-9.27	1.25	BLB	3
252485	Simple	12713681	G	.	Conflict	1	6	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	7/21/2017	-20.97	1.166666667	BLB	3
252762	Simple	137876961	G	.	Conflict	1	3	"not specified;not provided;Cone-Rod Dystrophy, Recessive"	6/30/2017	-8.4	1.666666667	BLB	3
252780	Simple	572667303	T	.	Conflict	1	2	not specified;not provided	5/15/2017	-8.7	1	BLB	3
254095	Simple	41268671	T	.	Conflict	1	9	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	7/21/2017	-21.6	0.777777778	BLB	3
254893	Simple	151193377	A	.	Conflict	1	3	"Myasthenic syndrome, congenital, 4a, slow-channel;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive"	1/26/2017	-11.7	1.333333333	BLB	3
254942	Simple	33998267	A	.	Conflict	1	3	Ch??diak-Higashi syndrome;not specified	8/7/2017	-12.3	0.666666667	BLB	3
255356	Simple	61736896	T	.	Conflict	1	3	"Glycogen storage disease, type II;not specified"	7/27/2017	-9.27	0.666666667	BLB	3
255361	Simple	377286472	C	.	Conflict	1	4	"Glycogen storage disease, type II;not specified"	7/24/2017	-17.7	1	BLB	3
255801	Simple	138490756	T	.	Conflict	1	4	"Ehlers-Danlos syndrome, hydroxylysine-deficient;Thoracic aortic aneurysm and aortic dissection;not specified;not provided"	7/29/2017	-8.4	1	BLB	3
255842	Simple	200770684	T	.	Conflict	1	8	"Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;not provided;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis"	6/30/2017	-30	0.875	B	3
255852	Simple	148028364	G	.	Conflict	1	6	"Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;not provided;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis"	3/31/2017	-21	1	BLB	3
255928	Simple	200091822	A	.	Conflict	1	4	"Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.27	1.25	BLB	3
255945	Simple	373465241	A	.	Conflict	1	3	Tuberous sclerosis 1;not specified	8/2/2017	-11.67	1.333333333	BLB	3
255976	Simple	61743299	T	.	Conflict	1	4	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;not provided;Hypobetalipoproteinemia, familial, 1"	8/11/2017	-15.27	1	BLB	3
255977	Simple	1801702	G	.	Conflict	1	7	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/22/2017	-34.8	1	B	3
255978	Simple	12713450	A	.	Conflict	1	7	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/21/2017	-24.54	1	B	3
255979	Simple	13306194	A	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	7/15/2017	-18.27	0.8	BLB	3
255981	Simple	1801700	A	.	Conflict	1	6	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/21/2017	-24.27	0.833333333	B	3
255987	Simple	12713675	T	.	Conflict	1	4	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;not provided;Hypobetalipoproteinemia, familial, 1"	8/11/2017	-15.27	1	BLB	3
255988	Simple	72653093	A	.	Conflict	1	4	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	9/3/2017	-9.6	0.5	BLB	3
255990	Simple	12720855	G	.	Conflict	1	4	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;not provided;Hypobetalipoproteinemia, familial, 1"	8/11/2017	-15.27	1	BLB	3
256052	Simple	111695726	G	.	Conflict	1	4	"Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related"	4/14/2017	-18.3	0.75	BLB	3
256069	Simple	149347601	A	.	Conflict	1	3	"Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related"	8/7/2017	-9.3	0.333333333	BLB	3
256072	Simple	35579821	A	.	Conflict	1	6	"Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related"	6/16/2017	-23.7	0.833333333	BLB	3
256114	Simple	36113295	C	.	Conflict	1	3	"Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;Chronic granulomatous disease;not specified"	8/7/2017	-9.3	0.666666667	BLB	3
256135	Simple	78926093	A	.	Conflict	1	2	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified;not provided	7/25/2017	-9	0.5	BLB	3
256386	Simple	200355885	A	.	Conflict	1	5	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided"	1/31/2017	-15	1	BLB	3
256488	Simple	145434723	T	.	Conflict	1	6	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	7/12/2017	-18.3	0.833333333	BLB	3
256491	Simple	200780880	T	.	Conflict	1	6	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	7/25/2017	-12.57	1	BLB	3
256727	Simple	150441555	T	.	Conflict	1	2	Glycogen storage disease type III;not specified;not provided	7/31/2017	-9	0	BLB	3
257170	Simple	185628131	G	.	Conflict	1	3	Glycogen phosphorylase kinase deficiency;not specified	6/14/2016	-8.7	1.333333333	BLB	3
257453	Simple	202004658	T	.	Conflict	1	4	"Nemaline myopathy 6;not specified;Nemaline Myopathy, Dominant"	9/25/2017	-12.3	0.5	BLB	3
257765	Simple	201111610	T	.	Conflict	1	3	not specified;Peripheral neuropathy	6/20/2017	-8.7	1	BLB	3
257770	Simple	140688592	A	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/19/2017	-11.7	1	BLB	3
257773	Simple	147305883	C	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	8/1/2017	-9.3	0.333333333	BLB	3
257814	Simple	201169452	T	.	Conflict	1	3	Nemaline myopathy 2;not specified;not provided	5/8/2017	-8.7	1	BLB	3
257815	Simple	74482326	T	.	Conflict	1	3	Nemaline myopathy 2;not specified;not provided	5/8/2017	-8.7	1	BLB	3
257833	Simple	114853127	C	.	Conflict	1	4	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/28/2017	-15.3	0.5	BLB	3
257857	Simple	187489343	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	5/7/2017	-9	1	BLB	3
257867	Simple	113653972	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	10/4/2016	-8.7	1.333333333	BLB	3
257931	Simple	145239537	A	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	5/26/2017	-9.3	0.666666667	BLB	3
258016	Simple	144236383	G	.	Conflict	1	3	Primary ciliary dyskinesia;not specified;not provided	6/7/2017	-9.3	0.333333333	BLB	3
258331	Simple	150219725	T	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	3/7/2017	-9.27	1	BLB	3
258333	Simple	377585812	A	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	7/25/2017	-9.3	0.75	BLB	3
258480	Simple	41272669	T	.	Conflict	1	3	"Congenital hyperammonemia, type I;not specified;not provided"	10/27/2017	-9.3	0.666666667	BLB	3
258557	Simple	117061430	G	.	Conflict	1	4	"Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;not provided;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S"	7/3/2017	-17.7	1	BLB	3
258562	Simple	34617762	T	.	Conflict	1	3	"Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S"	8/2/2017	-9.3	0.666666667	BLB	3
258583	Simple	61733050	A	.	Conflict	1	4	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;not provided;Congenital Muscular Dystrophy, ITGA7-related"	8/9/2017	-12.3	0.5	BLB	3
258589	Simple	148190047	T	.	Conflict	1	5	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	8/23/2017	-15.3	0.6	BLB	3
258877	Simple	779674923	GCCGCC	.	Conflict	1	3	Townes-Brocks syndrome 1;not specified;Townes syndrome	2/28/2017	-9.3	1	BLB	3
258938	Simple	34973695	A	.	Conflict	1	4	"Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive"	4/18/2017	-9.3	0.75	BLB	3
258943	Simple	857725	G	.	Conflict	1	4	"Hereditary pyropoikilocytosis;not specified;Elliptocytosis;Spherocytosis, Recessive"	11/3/2016	-9.3	1	BLB	3
258980	Simple	777499631	A	.	Conflict	1	3	not specified;Early infantile epileptic encephalopathy	7/28/2017	-8.7	1	BLB	3
259071	Simple	191337920	A	.	Conflict	1	4	Dysferlinopathy;not specified	4/27/2017	-9	0.75	BLB	3
259302	Simple	148970984	T	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified	5/25/2017	-9.27	0.75	BLB	3
259386	Simple	34192549	T	.	Conflict	1	2	"Cataract 6, multiple types;Squamous cell carcinoma of lung;not specified;Age-related cortical cataract"	5/15/2017	-12	0.5	BLB	3
259561	Simple	35829419	A	.	Conflict	1	6	"Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;not specified;not provided;Familial cold autoinflammatory syndrome;Cryopyrin associated periodic syndrome"	10/31/2017	-36	0.833333333	B	3
259628	Simple	56245238	A	.	Conflict	1	5	"Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive"	6/6/2017	-9.6	0.6	BLB	3
259799	Simple	79843573	C	.	Conflict	1	3	"Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive"	8/1/2017	-9	1	BLB	3
259805	Simple	41279055	C	.	Conflict	1	6	"Pena-Shokeir syndrome type I;not specified;not provided;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive"	5/16/2017	-12.3	1	BLB	3
259812	Simple	56044404	C	.	Conflict	1	3	"Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive"	10/25/2016	-9	1.333333333	BLB	3
259815	Simple	34315917	C	.	Conflict	1	3	not specified;Familial Intrahepatic Cholestasis	6/14/2016	-8.7	1.333333333	BLB	3
260011	Simple	145877279	A	.	Conflict	1	4	Bardet-Biedl syndrome;Senior-Loken syndrome 7;Renal dysplasia and retinal aplasia;Bardet-Biedl syndrome 16;not specified	4/17/2017	-9.6	0.75	BLB	3
260375	Simple	73122634	T	.	Conflict	1	2	"not specified;not provided;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10"	6/28/2017	-9	0.5	BLB	3
260448	Simple	142482745	G	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type IV;not specified"	6/30/2017	-8.67	1.333333333	BLB	3
260676	Simple	7212549	G	.	Conflict	1	3	Joubert syndrome;Meckel-Gruber syndrome;not specified	6/16/2017	-12.3	0.666666667	BLB	3
261278	Simple	147131452	A	.	Conflict	1	4	Eichsfeld type congenital muscular dystrophy;not specified;SEPN1-Related Disorders	9/8/2017	-12.3	0.25	BLB	3
261284	Simple	139020143	A	.	Conflict	1	4	Eichsfeld type congenital muscular dystrophy;not specified;SEPN1-Related Disorders	7/10/2017	-9.57	0.75	BLB	3
261567	Simple	116621885	C	.	Conflict	1	3	Welander distal myopathy;not specified	7/26/2017	-12.3	0.666666667	BLB	3
261691	Simple	201454433	T	.	Conflict	1	4	not specified;Walker-Warburg congenital muscular dystrophy	7/20/2017	-15.3	0.5	BLB	3
261758	Simple	139053702	G	.	Conflict	1	3	Bardet-Biedl syndrome;not specified	5/18/2017	-12.3	0.333333333	BLB	3
261781	Simple	115504901	C	.	Conflict	1	4	Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified	8/15/2017	-12	1	BLB	3
261849	Simple	11104729	C	.	Conflict	1	9	Bardet-Biedl syndrome;Joubert syndrome;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;Leber congenital amaurosis;Nephronophthisis;not specified;not provided	6/30/2017	-18.9	0.888888889	BLB	3
262059	Simple	78847357	A	.	Conflict	1	3	"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified"	9/12/2017	-9.3	0.333333333	BLB	3
262072	Simple	35591368	T	.	Conflict	1	3	"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified"	8/7/2017	-11.7	1	BLB	3
262078	Simple	113794264	T	.	Conflict	1	3	"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified"	8/2/2017	-11.7	1	BLB	3
262096	Simple	41274877	G	.	Conflict	1	3	not specified;Hyperphosphatasia with mental retardation syndrome 2;Hyperphosphatasia with Intellectual Disability Syndrome	9/5/2017	-9.3	0.333333333	BLB	3
262099	Simple	142562923	T	.	Conflict	1	4	not specified;Hyperphosphatasia with mental retardation syndrome 2;not provided;Hyperphosphatasia with Intellectual Disability Syndrome	7/28/2017	-9.3	0.5	BLB	3
262168	Simple	141380170	C	.	Conflict	1	4	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	4/6/2017	-9.27	1	BLB	3
262298	Simple	13319347	T	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified;not provided"	7/20/2017	-9	0.75	BLB	3
262899	Simple	509504	G	.	Conflict	1	5	Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified	6/2/2017	-18.27	1	BLB	3
262900	Simple	28362263	A	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, 3;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified"	8/17/2017	-15.27	1	BLB	3
262902	Simple	28385701	T	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, 3;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified"	8/14/2017	-18.27	0.8	BLB	3
262906	Simple	11800243	A	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, 3;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified"	8/18/2017	-18.27	0.8	BLB	3
262907	Simple	28385710	T	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, 3;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified"	8/21/2017	-18.27	0.8	BLB	3
263341	Simple	140267000	A	.	Conflict	1	3	"Aortic aneurysm, familial thoracic 4;Thoracic aortic aneurysm and aortic dissection"	6/9/2017	-9	1	BLB	3
263431	Simple	149697299	A	.	Conflict	1	11	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;not provided;Thoracic aortic Aneurysm and dissection (TAAD);Geleophysic dysplasia;Ectopia lentis	4/10/2017	-11.4	0.909090909	BLB	3
263476	Simple	572545726	A	.	Conflict	1	5	Long QT syndrome;not specified;Cardiovascular phenotype	6/27/2017	-14.7	1	BLB	3
263632	Simple	375996640	C	.	Conflict	1	9	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;Geleophysic dysplasia;Ectopia lentis	6/14/2016	-24.21	1.333333333	B	3
263699	Simple	138621371	A	.	Conflict	1	4	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified;Thoracic aortic Aneurysm and dissection (TAAD)	4/11/2017	-13.8	1.75	BLB	3
263781	Simple	147793030	A	.	Conflict	1	3	Alagille syndrome 1;not specified;Cardiovascular phenotype	12/13/2016	-9.27	1.333333333	BLB	3
263900	Simple	149280976	A	.	Conflict	1	4	Homocystinuria due to CBS deficiency;Homocystinuria;Thoracic aortic aneurysm and aortic dissection;not specified	8/1/2017	-8.7	1	BLB	3
263905	Simple	1801167	A	.	Conflict	1	3	Congenital contractural arachnodactyly;Thoracic aortic aneurysm and aortic dissection	1/26/2017	-8.7	1.666666667	BLB	3
263911	Simple	140148380	A	.	Conflict	1	5	"Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified"	7/28/2017	-18.3	0.6	BLB	3
263976	Simple	78118111	C	.	Conflict	1	3	"Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection"	5/13/2017	-9	1	BLB	3
264026	Simple	754765424	C	.	Conflict	1	4	Duchenne muscular dystrophy;not specified;Cardiovascular phenotype	6/28/2017	-9.54	1.25	BLB	3
264146	Simple	200800133	T	.	Conflict	1	3	Long QT syndrome;not specified;Cardiovascular phenotype	7/27/2017	-9	1	BLB	3
264299	Simple	142604625	A	.	Conflict	1	6	"Fukuyama congenital muscular dystrophy;not specified;Cardiovascular phenotype;Walker-Warburg congenital muscular dystrophy;Dilated Cardiomyopathy, Recessive"	6/19/2017	-11.97	1.333333333	BLB	3
264488	Simple	201024064	T	.	Conflict	1	3	Long QT syndrome;not specified;Cardiovascular phenotype	6/14/2016	-8.4	1.666666667	BLB	3
264534	Simple	200615848	C	.	Conflict	1	3	"Aortic aneurysm, familial thoracic 2;Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified;Cardiovascular phenotype"	7/31/2017	-12	0.666666667	BLB	3
265027	Simple	72547561	T	.	Conflict	1	3	Sj??gren-Larsson syndrome;not provided	8/30/2017	11.1	1	PLP	3
265349	Simple	183105855	C	.	Conflict	1	2	not specified;not provided	7/10/2017	12	0.5	PLP	3
265506	Simple	747900252	A	.	Conflict	1	7	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;not provided;Myosclerosis	4/21/2017	11.1	0.857142857	PLP	3
265886	Simple	61741164	C	.	Conflict	1	3	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	9/1/2017	-8.7	1	BLB	3
265890	Simple	1799812	T	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	7/27/2017	-18.54	1	BLB	3
265893	Simple	12713558	T	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1"	7/10/2017	-18.27	1	BLB	3
265916	Simple	35574083	GCTGCTGCTGCT	.	Conflict	1	4	"Hypercholesterolemia, autosomal dominant, 3;Familial hypercholesterolemia;not specified"	7/7/2017	-9.27	0.75	BLB	3
265932	Simple	7552471	T	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, 3;Familial hypobetalipoproteinemia;Familial hypercholesterolemia"	7/28/2017	-18.27	0.8	BLB	3
266049	Simple	199827465	T	.	Conflict	1	3	Motor neuron disease;not specified	8/31/2016	-9.27	1.333333333	BLB	3
266051	Simple	34324114	C	.	Conflict	1	4	"Short rib-polydactyly syndrome, Majewski type;Motor neuron disease;not specified"	4/11/2017	-11.1	1.25	BLB	3
267221	Simple	886040864	T	.	Conflict	1	4	"Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome"	1/23/2017	9.3	2.5	PLP	3
267712	Simple	886040949	G	.	Conflict	1	4	"Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome"	2/22/2017	11.7	2.25	PLP	3
279716	Simple	369223258	C	.	Conflict	1	5	not specified;Autosomal recessive cerebellar ataxia;Ataxia Neuropathy Spectrum Disorders;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Mitochondrial DNA depletion syndrome	6/14/2016	-12.3	1	BLB	3
281057	Simple	17102066	T	.	Conflict	1	6	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive"	9/6/2017	-15.27	1	BLB	3
281142	Simple	12713843	T	.	Conflict	1	6	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/3/2017	-12.87	0.5	BLB	3
281243	Simple	114684479	T	.	Conflict	1	5	"Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7"	7/26/2017	-9	1	BLB	3
281355	Simple	147263499	T	.	Conflict	1	3	Dysferlinopathy;not specified	2/16/2017	-9.27	1.333333333	BLB	3
281375	Simple	146157131	A	.	Conflict	1	3	Fanconi anemia;not specified;not provided	7/5/2017	-9.27	0.666666667	BLB	3
281390	Simple	199695976	A	.	Conflict	1	3	Nemaline myopathy 2;not specified	8/2/2017	-9.27	1	BLB	3
281468	Simple	199921300	G	.	Conflict	1	3	Cryptophthalmos syndrome;not specified	1/5/2017	-8.7	1.333333333	BLB	3
281479	Simple	536304635	T	.	Conflict	1	6	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified"	6/14/2016	-12.57	1.166666667	BLB	3
281616	Simple	148927511	T	.	Conflict	1	3	not specified	6/30/2017	-9.27	1	BLB	3
281684	Simple	35379711	C	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	6/28/2017	-18.3	0.666666667	BLB	3
281702	Simple	116514447	A	.	Conflict	1	3	not specified;Ellis-van Creveld Syndrome	8/15/2016	-8.7	1.333333333	BLB	3
281703	Simple	73198154	A	.	Conflict	1	3	not specified;Ellis-van Creveld Syndrome	8/15/2016	-8.7	1.333333333	BLB	3
281726	Simple	139904931	C	.	Conflict	1	3	"Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy"	8/8/2017	-11.7	1	BLB	3
281739	Simple	142244640	C	.	Conflict	1	4	"Newfoundland rod-cone dystrophy;not specified;Fundus albipunctatus;Retinitis Pigmentosa, Recessive"	6/14/2016	-9.27	1.25	BLB	3
281778	Simple	1800219	A	.	Conflict	1	6	"Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant"	3/8/2017	-18.3	1	BLB	3
281798	Simple	34813662	A	.	Conflict	1	3	Gamma-aminobutyric acid transaminase deficiency;not specified	8/14/2017	-9	1	BLB	3
282000	Simple	11256354	C	.	Conflict	1	3	"Interleukin 2 receptor, alpha, deficiency of;not specified"	7/12/2017	-11.7	1	BLB	3
282017	Simple	373434281	G	.	Conflict	1	4	Pitt-Hopkins syndrome;not specified	12/19/2016	-11.67	1.5	BLB	3
282033	Simple	141133579	C	.	Conflict	1	3	Zellweger syndrome;not specified;not provided	5/12/2017	-8.7	1	BLB	3
282036	Simple	144169073	G	.	Conflict	1	4	"Myasthenic syndrome, congenital, 4a, slow-channel;not specified;not provided"	7/12/2017	8.43	1	PLP	3
282129	Simple	35686213	A	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	8/4/2017	-15.3	0.666666667	BLB	3
282184	Simple	200710788	A	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	7/7/2017	-9.57	0.8	BLB	3
282375	Simple	375004542	C	.	Conflict	1	3	"Mental retardation, CASK-related, X-linked;not specified"	7/28/2017	-9.27	1	BLB	3
282403	Simple	139834542	G	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	7/10/2017	-9.57	0.8	BLB	3
282500	Simple	762141482	G	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	6/9/2017	-8.67	1.333333333	BLB	3
282546	Simple	201025841	A	.	Conflict	1	5	"Inclusion body myopathy 2;Nonaka myopathy;Sialuria;not specified;Inclusion Body Myopathy, Recessive"	1/27/2017	-9.57	1.2	BLB	3
282606	Simple	61757691	C	.	Conflict	1	4	"Infantile-onset ascending hereditary spastic paralysis;not specified;ALS2-Related Spectrum Disorders;Amyotrophic Lateral Sclerosis, Recessive"	7/14/2017	-9.3	1	BLB	3
282646	Simple	528417986	T	.	Conflict	1	4	"Limb-girdle muscular dystrophy, type 2A;not provided"	7/10/2017	11.1	1	PLP	3
282655	Simple	370375696	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/6/2017	-18.6	1.111111111	BLB	3
282699	Simple	544993852	T	.	Conflict	1	4	"Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	4/28/2017	-12.6	0.75	BLB	3
282719	Simple	187977513	C	.	Conflict	1	3	not specified;Catecholaminergic polymorphic ventricular tachycardia	4/18/2017	-8.67	1.333333333	BLB	3
282798	Simple	77539990	T	.	Conflict	1	3	Mitochondrial complex I deficiency;not specified	6/14/2016	-11.1	1.666666667	BLB	3
282888	Simple	148240825	T	.	Conflict	1	4	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	9/22/2016	-9.3	1	BLB	3
282891	Simple	148183839	G	.	Conflict	1	4	Collagen VI-related myopathy;not specified;not provided	9/7/2017	-9	1	BLB	3
282920	Simple	142421934	T	.	Conflict	1	4	Biotinidase deficiency;not specified	8/1/2017	-14.4	1.25	BLB	3
282934	Simple	114015043	T	.	Conflict	1	4	Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia	4/10/2017	-9.3	1	BLB	3
282949	Simple	201815805	A	.	Conflict	1	10	"Metatrophic dysplasia;Distal spinal muscular atrophy, congenital nonprogressive;Scapuloperoneal spinal muscular atrophy;Charcot-Marie-Tooth disease type 2C;not specified;Spondylometaphyseal dysplasia;Charcot-Marie-Tooth, Type 2;Brachyolmia"	7/25/2017	-30.3	0.8	B	3
282968	Simple	200766991	T	.	Conflict	1	3	Familial Mediterranean fever;not specified	4/17/2017	-11.7	1	BLB	3
283025	Simple	183401234	A	.	Conflict	1	3	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	6/9/2017	-9.27	1	BLB	3
283043	Simple	200761715	A	.	Conflict	1	5	"Limb-girdle muscular dystrophy, type 2E;Beta-sarcoglycanopathy;not specified;Limb-Girdle Muscular Dystrophy, Recessive"	4/24/2017	-15	1	BLB	3
283080	Simple	2066520	T	.	Conflict	1	3	Schimke immunoosseous dysplasia;not specified	7/25/2017	-9	1	BLB	3
283092	Simple	560856407	T	.	Conflict	1	3	Dysferlinopathy;not specified	12/13/2016	-9.27	1.333333333	BLB	3
283105	Simple	141671123	G	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	8/23/2017	-12.27	1	BLB	3
283127	Simple	142352627	T	.	Conflict	1	3	"Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified"	8/15/2017	-9.27	0.666666667	BLB	3
283130	Simple	199875457	C	.	Conflict	1	4	Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified	6/14/2016	-9.27	1.25	BLB	3
283174	Simple	369033909	T	.	Conflict	1	3	"Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42"	3/20/2017	-9.27	1	BLB	3
283176	Simple	201200430	A	.	Conflict	1	4	"Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42"	3/20/2017	-15.27	1	BLB	3
283209	Simple	186429469	G	.	Conflict	1	3	"Early infantile epileptic encephalopathy 12;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Recessive"	6/23/2017	-9	1	BLB	3
283337	Simple	185022156	A	.	Conflict	1	4	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;not provided;Epidermolysis bullosa simplex with nail dystrophy"	10/31/2017	-9.27	0.5	BLB	3
283383	Simple	141176394	A	.	Conflict	1	8	"Anterior segment mesenchymal dysgenesis;Iridogoniodysgenesis, dominant type;Ring dermoid of cornea;not specified;Cataract;Peters anomaly;PITX2-Related Eye Abnormalities;Axenfeld-Rieger Syndrome"	6/14/2016	-21.27	1.125	BLB	3
283387	Simple	140482171	T	.	Conflict	1	5	"Stargardt disease 1;not specified;not provided;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	4/30/2017	-12.27	1.2	BLB	3
283421	Simple	200663056	G	.	Conflict	1	4	"not specified;Supravalvular aortic stenosis;Cutis laxa, autosomal dominant"	11/18/2016	-9.27	1.25	BLB	3
283439	Simple	141858284	A	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	6/21/2017	-9.9	0.666666667	BLB	3
283467	Simple	578191306	T	.	Conflict	1	7	"Myofibrillar myopathy 1;not specified;Muscular dystrophy, limb-girdle, type 2r;Scapuloperoneal weakness;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant"	8/30/2016	-21.27	1.142857143	BLB	3
283470	Simple	576688705	A	.	Conflict	1	4	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	6/27/2017	-9.27	1	BLB	3
283514	Simple	184723350	T	.	Conflict	1	4	"Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42"	11/6/2017	-15.27	0.75	BLB	3
283522	Simple	113593896	C	.	Conflict	1	2	Osteogenesis imperfecta type 8;not specified;not provided	7/6/2017	-11.4	1	BLB	3
283674	Simple	146424389	T	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	5/8/2017	-15.27	1	BLB	3
283693	Simple	149260051	C	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	6/28/2017	-15.27	0.8	BLB	3
283698	Simple	151081036	T	.	Conflict	1	4	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	7/27/2017	-9.27	1	BLB	3
283754	Simple	185829704	A	.	Conflict	1	4	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	3/28/2017	-9.27	1	BLB	3
283787	Simple	141439475	A	.	Conflict	1	4	Cortical dysplasia-focal epilepsy syndrome;not specified	8/6/2016	-11.67	1.5	BLB	3
284004	Simple	150583010	T	.	Conflict	1	4	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified;Congenital Muscular Dystrophy, ITGA7-related"	6/29/2017	-14.7	1	BLB	3
284072	Simple	115784602	A	.	Conflict	1	5	Succinate-semialdehyde dehydrogenase deficiency;not specified;not provided	7/21/2017	-9.6	0.8	BLB	3
284084	Simple	149248727	T	.	Conflict	1	4	Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified	6/14/2016	-9.27	1.25	BLB	3
284098	Simple	202200861	G	.	Conflict	1	3	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified"	3/27/2017	-8.67	1.333333333	BLB	3
284179	Simple	45586138	A	.	Conflict	1	3	Generalized epilepsy and paroxysmal dyskinesia;not specified	8/3/2017	-11.7	1	BLB	3
284180	Simple	138313759	C	.	Conflict	1	4	"Temporal epilepsy, familial;not specified;Febrile seizures, familial, 11"	6/23/2017	-17.7	0.75	BLB	3
284209	Simple	201912204	A	.	Conflict	1	5	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	6/27/2017	-9.27	1.2	BLB	3
284280	Simple	150304757	T	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified;Abnormality of brain morphology"	7/27/2017	-20.4	1	BLB	3
284296	Simple	141352486	G	.	Conflict	1	3	Bardet-Biedl syndrome;not specified	7/27/2017	-9.27	1	BLB	3
284439	Simple	140916001	G	.	Conflict	1	4	Andermann syndrome;not specified;not provided	9/29/2016	-14.7	1.25	BLB	3
284451	Simple	35638832	C	.	Conflict	1	5	"Inclusion body myopathy 2;Nonaka myopathy;Sialuria;not specified;Inclusion Body Myopathy, Recessive"	10/7/2016	-9.57	1.2	BLB	3
284467	Simple	374790646	A	.	Conflict	1	3	"Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with pyloric atresia;Limb-girdle muscular dystrophy, type 2Q;not specified;Epidermolysis bullosa simplex with nail dystrophy"	4/11/2017	-9.3	0.666666667	BLB	3
284511	Simple	148697028	T	.	Conflict	1	4	"Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	4/25/2017	-9.3	1	BLB	3
284525	Simple	148043302	G	.	Conflict	1	4	Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified	6/14/2016	-9.27	1.25	BLB	3
284530	Simple	41311989	T	.	Conflict	1	4	Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia	11/4/2016	-9	1.25	BLB	3
284555	Simple	75581470	A	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	7/20/2017	-12	0.8	BLB	3
284594	Simple	187029707	T	.	Conflict	1	3	not specified;Primary Microcephaly 2 With or Without Cortical Malformations	6/14/2016	-11.7	1.333333333	BLB	3
284601	Simple	139480065	T	.	Conflict	1	4	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	8/2/2016	-9.27	1.25	BLB	3
284648	Simple	201656051	A	.	Conflict	1	3	"Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy"	5/1/2017	-11.7	1	BLB	3
284681	Simple	144105769	G	.	Conflict	1	5	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	5/24/2017	-12.27	1	BLB	3
284732	Simple	141151675	T	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	8/29/2017	-9.27	0.666666667	BLB	3
284750	Simple	202065765	A	.	Conflict	1	4	"Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant"	6/14/2016	-9.27	1.25	BLB	3
284760	Simple	201272488	G	.	Conflict	1	4	"Charcot-Marie-Tooth disease, dominant intermediate C;not specified;Charcot-Marie-Tooth, Intermediate"	9/22/2017	-9.27	0.75	BLB	3
284815	Simple	148249892	A	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	5/1/2017	-9.27	1	BLB	3
284852	Simple	144730069	A	.	Conflict	1	4	Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome	7/25/2017	-12	0.75	BLB	3
284855	Simple	188321058	T	.	Conflict	1	3	Jeune thoracic dystrophy;not specified	7/27/2017	-9	1	BLB	3
284911	Simple	149119710	T	.	Conflict	1	3	"Osteogenesis imperfecta type 7;not specified;Osteogenesis Imperfecta, Recessive"	4/4/2017	-9	1	BLB	3
284945	Simple	780264754	G	.	Conflict	1	3	"Limb-girdle muscular dystrophy, type 2D"	6/14/2016	10.5	1.666666667	PLP	3
284947	Simple	112516305	A	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	9/30/2016	-8.97	1.666666667	BLB	3
284990	Simple	72466494	T	.	Conflict	1	4	Amyotrophic lateral sclerosis type 1;Perry syndrome;Distal hereditary motor neuronopathy type 7B;not specified;not provided;Distal hereditary motor neuronopathy	8/4/2017	-17.4	1	BLB	3
285055	Simple	146869947	A	.	Conflict	1	4	"Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;not specified;Walker-Warburg congenital muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive"	1/16/2017	-14.7	1.25	BLB	3
285057	Simple	137919524	T	.	Conflict	1	6	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	2/27/2017	-18.27	1.166666667	BLB	3
285109	Simple	557830930	G	.	Conflict	1	4	Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome	8/2/2017	-9.27	1	BLB	3
285194	Simple	138745849	T	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	6/14/2017	-12.27	1	BLB	3
285219	Simple	192176661	T	.	Conflict	1	4	Duchenne muscular dystrophy;not specified;Dilated cardiomyopathy 3B	4/17/2017	-17.7	1	BLB	3
285358	Simple	143695871	T	.	Conflict	1	3	Bethlem myopathy 1;not specified	8/25/2017	-9.27	1	BLB	3
285366	Simple	148578399	A	.	Conflict	1	4	"Glycogen storage disease, type II;not specified"	7/11/2017	-9.57	0.75	BLB	3
285485	Simple	144424662	C	.	Conflict	1	4	not specified;Early infantile epileptic encephalopathy	7/19/2017	-14.37	1.5	BLB	3
285676	Simple	201183207	A	.	Conflict	1	4	"Glycogen storage disease, type II;not specified"	10/23/2017	-12	0.75	BLB	3
285688	Simple	149272010	A	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	9/26/2017	-12.57	0.8	BLB	3
285696	Simple	146546544	A	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Congenital contracture	7/25/2017	-11.97	1.25	BLB	3
285912	Simple	542134887	-	.	Conflict	1	4	"Ehlers-Danlos syndrome, type 2;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified"	4/20/2017	-9	1	BLB	3
285987	Simple	117345850	A	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified	1/24/2017	-12.27	1.25	BLB	3
286046	Simple	140929054	T	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	2/7/2017	-15.27	1.2	BLB	3
286073	Simple	200312379	T	.	Conflict	1	3	"Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive"	6/22/2017	-9	1	BLB	3
286172	Simple	145361930	T	.	Conflict	1	5	"Nonaka myopathy;Sialuria;not specified;Inclusion Body Myopathy, Recessive"	8/10/2017	-12.3	0.8	BLB	3
286194	Simple	140678912	G	.	Conflict	1	3	not specified	6/26/2017	-9.27	1	BLB	3
286251	Simple	142327194	C	.	Conflict	1	4	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	11/15/2016	-9.27	1.25	BLB	3
286328	Simple	886043365	GG	.	Conflict	1	5	Parathyroid carcinoma;Hyperparathyroidism 2;not specified;Isolated Hyperparathyroidism	9/6/2016	-9.3	1.2	BLB	3
286384	Simple	139206060	A	.	Conflict	1	3	Chromosome 9q deletion syndrome;not specified	5/16/2017	-9.27	1	BLB	3
286518	Simple	199653503	A	.	Conflict	1	3	"Hereditary sensory and autonomic neuropathy type IIA;Generalized epilepsy with febrile seizures plus, type 7;not specified"	7/19/2017	-9.3	0.333333333	BLB	3
286612	Simple	148453034	A	.	Conflict	1	3	Brugada syndrome 8;not specified	11/29/2016	-11.7	1.333333333	BLB	3
286822	Simple	150098077	T	.	Conflict	1	5	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	10/30/2017	-9.6	0.6	BLB	3
287025	Simple	139365076	G	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	7/17/2017	-9	1	BLB	3
287090	Simple	144177566	A	.	Conflict	1	4	Succinate-semialdehyde dehydrogenase deficiency;not specified;not provided	10/24/2017	-12.3	0.5	BLB	3
287104	Simple	138203039	T	.	Conflict	1	3	Glycogen storage disease type III;not specified	1/26/2017	-9.3	1	BLB	3
287116	Simple	143518519	A	.	Conflict	1	3	Progressive myoclonic epilepsy;not specified	3/4/2017	-8.7	1.333333333	BLB	3
287155	Simple	148291843	G	.	Conflict	1	3	"Spondylocheirodysplasia, Ehlers-Danlos syndrome-like;not specified;not provided"	8/9/2017	-12	0.333333333	BLB	3
287210	Simple	35079638	A	.	Conflict	1	5	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	7/28/2017	-9.9	0.8	BLB	3
287215	Simple	184018403	G	.	Conflict	1	4	"Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified;Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant"	8/8/2017	-15.3	0.5	BLB	3
287219	Simple	55698015	A	.	Conflict	1	5	Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome	6/13/2017	-9.6	0.8	BLB	3
287306	Simple	112507765	T	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve"	6/7/2017	-9.6	0.75	BLB	3
287318	Simple	181679318	C	.	Conflict	1	5	Arthrogryposis multiplex congenita;Arthrogryposis multiplex congenita distal;not specified	1/19/2017	-9.6	1	BLB	3
287402	Simple	115806540	A	.	Conflict	1	4	"Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7"	4/25/2017	-15.3	0.5	BLB	3
287539	Simple	142228240	C	.	Conflict	1	6	"Pendred's syndrome;not specified;Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome;Nonsyndromic Hearing Loss, Mixed"	12/18/2016	-9.6	1.166666667	BLB	3
287562	Simple	374307014	T	.	Conflict	1	4	"Episodic ataxia type 2;not specified;Epileptic encephalopathy, early infantile, 42"	6/20/2017	-12.3	0.75	BLB	3
287619	Simple	3731753	A	.	Conflict	1	9	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	8/4/2017	-19.2	1	BLB	3
287823	Simple	71329437	GGCGGC	.	Conflict	1	4	not specified;Cerebellar hypoplasia	6/14/2016	-9.6	1	BLB	3
287829	Simple	149346064	T	.	Conflict	1	10	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	7/26/2017	-24.6	0.9	B	3
287865	Simple	139001173	A	.	Conflict	1	4	Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia	1/20/2017	-9.6	1	BLB	3
288302	Simple	142422990	T	.	Conflict	1	5	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	10/21/2016	-12.3	1	BLB	3
288516	Simple	140441798	G	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified	9/11/2017	-9.3	0.5	BLB	3
288752	Simple	200363918	A	.	Conflict	1	4	not specified	2/6/2017	-9	1.25	BLB	3
288967	Simple	61760166	C	.	Conflict	1	5	Cockayne syndrome;not specified;not provided;Macular degeneration;Cerebrooculofacioskeletal Syndrome	5/31/2017	-9.6	0.8	BLB	3
289068	Simple	147114700	A	.	Conflict	1	4	Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia	7/20/2016	-9	1.25	BLB	3
289071	Simple	148226583	T	.	Conflict	1	4	Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified	8/19/2016	-9.3	1	BLB	3
289403	Simple	145343957	A	.	Conflict	1	3	"Polycystic kidney disease, autosomal dominant;not specified"	5/17/2017	-12.3	0.666666667	BLB	3
289453	Simple	143981992	G	.	Conflict	1	3	"not specified;Spastic Paraplegia, Recessive"	1/9/2017	-12.3	1	BLB	3
289458	Simple	139372534	A	.	Conflict	1	3	"Spastic paraplegia 6;Spastic Paraplegia, Dominant"	8/15/2016	-9.3	1	BLB	3
289536	Simple	200648035	G	.	Conflict	1	4	Alagille syndrome 1;Arteriohepatic dysplasia;not specified;Isolated Nonsyndromic Congenital Heart Disease	5/10/2017	-9.6	0.75	BLB	3
289603	Simple	45617636	A	.	Conflict	1	4	Generalized epilepsy and paroxysmal dyskinesia;not specified	2/1/2017	-15.3	1	BLB	3
289607	Simple	370196495	T	.	Conflict	1	3	"Periventricular nodular heterotopia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;not specified"	8/4/2017	-9.3	0.666666667	BLB	3
289637	Simple	376218204	A	.	Conflict	1	5	"Spinocerebellar ataxia, autosomal recessive 8;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified"	6/14/2017	-9.6	0.8	BLB	3
289661	Simple	143651470	T	.	Conflict	1	4	"Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant"	8/9/2016	-9.3	1	BLB	3
289673	Simple	150811468	A	.	Conflict	1	4	Emery-Dreifuss muscular dystrophy;Cerebellar ataxia;not specified	9/26/2017	-9.3	0.75	BLB	3
289720	Simple	202133782	A	.	Conflict	1	3	not specified;Adams-Oliver syndrome 5	6/19/2017	-9.3	0.666666667	BLB	3
289744	Simple	151331381	C	.	Conflict	1	4	"Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II;not specified"	7/26/2017	-9.3	0.75	BLB	3
289745	Simple	72648621	T	.	Conflict	1	4	"Pseudohypoaldosteronism, type 2;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Hereditary sensory and autonomic neuropathy type II"	7/26/2017	-9.3	0.75	BLB	3
289997	Simple	144436610	G	.	Conflict	1	4	"Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis;not specified;not provided;Retinitis Pigmentosa, Recessive"	10/31/2017	-9.3	1	BLB	3
290049	Simple	143477661	G	.	Conflict	1	8	"Foveal hypoplasia and presenile cataract syndrome;Keratitis, hereditary;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not specified;Anophthalmia;Aniridia;Peters anomaly;Aniridia, Cerebellar Ataxia, And Intellectual Disability"	9/15/2016	-21.3	1	BLB	3
290493	Simple	886044463	-	.	Conflict	1	3	not specified;Cerebellar hypoplasia	8/17/2016	-12.3	1	BLB	3
290925	Simple	180719577	A	.	Conflict	1	3	Duchenne muscular dystrophy;not specified	12/20/2016	-9.3	1	BLB	3
290989	Simple	61737042	A	.	Conflict	1	3	Autosomal dominant nocturnal frontal lobe epilepsy;not specified	8/16/2017	-9.3	0.666666667	BLB	3
291084	Simple	137883250	T	.	Conflict	1	3	not specified;not provided	8/11/2017	-12	0.333333333	BLB	3
291185	Simple	200682458	A	.	Conflict	1	10	"Hereditary sensory and autonomic neuropathy type IIA;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia"	5/25/2017	-8.4	0.8	BLB	3
291535	Simple	149558726	T	.	Conflict	1	4	"Marshall syndrome;Fibrochondrogenesis;not specified;Stickler Syndrome, Dominant"	5/4/2017	-9.3	0.75	BLB	3
291548	Simple	141978499	G	.	Conflict	1	5	"Marshall syndrome;Fibrochondrogenesis;not specified;not provided;Stickler Syndrome, Dominant"	10/18/2017	-12.3	0.6	BLB	3
292333	Simple	142637231	T	.	Conflict	1	3	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;not specified	6/29/2017	-9.3	0.333333333	BLB	3
292373	Simple	11554508	T	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type 2;not specified;Hereditary motor and sensory neuropathy;Charcot-Marie-Tooth, Type 2"	7/28/2017	-12	1	BLB	3
292704	Simple	142150013	T	.	Conflict	1	3	"Severe congenital neutropenia 3, autosomal recessive;not specified;Severe congenital neutropenia"	7/17/2017	-9.3	0.333333333	BLB	3
292872	Simple	183517027	T	.	Conflict	1	3	Hereditary insensitivity to pain with anhidrosis;not specified	7/25/2017	-11.7	1	BLB	3
293126	Simple	148929192	T	.	Conflict	1	4	Familial hemiplegic migraine;not specified;Alternating hemiplegia of childhood	2/24/2017	-12	1.25	BLB	3
293134	Simple	374749325	T	.	Conflict	1	4	Familial hemiplegic migraine;not specified;not provided;Alternating hemiplegia of childhood	10/31/2017	-9.6	0.75	BLB	3
294720	Simple	79011683	C	.	Conflict	1	3	Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis	6/14/2016	-12.27	1.333333333	BLB	3
294744	Simple	139956524	T	.	Conflict	1	4	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified	5/24/2017	-9.27	1	BLB	3
294753	Simple	201784750	C	.	Conflict	1	4	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified	5/24/2017	-9.27	1	BLB	3
294780	Simple	148680317	G	.	Conflict	1	4	Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility type 5;Malignant hyperthermia susceptibility;Hypokalemic periodic paralysis;not specified	6/20/2017	-9.6	0.5	BLB	3
295825	Simple	62642521	T	.	Conflict	1	4	Schwartz Jampel syndrome type 1;not specified;Dyssegmental Dysplasia	5/19/2017	-9.6	0.5	BLB	3
296015	Simple	145034527	T	.	Conflict	1	4	"Coenzyme Q10 deficiency, primary, 4;not provided;Autosomal recessive cerebellar ataxia;Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type"	9/6/2016	8.7	1	PLP	3
296350	Simple	41308172	A	.	Conflict	1	3	Ch??diak-Higashi syndrome;not specified	7/19/2017	-9	1	BLB	3
296705	Simple	180711819	G	.	Conflict	1	4	"not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	7/14/2017	-9.6	0.5	BLB	3
296740	Simple	774657844	C	.	Conflict	1	4	"not specified;Catecholaminergic polymorphic ventricular tachycardia;Cardiomyopathy, ARVC"	4/14/2017	-9.6	0.75	BLB	3
296986	Simple	41291058	T	.	Conflict	1	5	"Hypercholesterolemia, autosomal recessive;Familial hypercholesterolemia;not specified"	8/4/2017	-21.3	0.6	BLB	3
297603	Simple	140853350	C	.	Conflict	1	3	Carnitine palmitoyltransferase II deficiency;not specified	3/26/2017	-9.3	0.666666667	BLB	3
297699	Simple	28362261	G	.	Conflict	1	6	"Hypercholesterolemia, autosomal dominant, 3;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified"	7/24/2017	-18.57	1	BLB	3
297962	Simple	111624565	A	.	Conflict	1	4	"Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy"	3/29/2017	-14.7	1	BLB	3
297971	Simple	143484278	T	.	Conflict	1	3	"Distal spinal muscular atrophy, autosomal recessive 4;not specified;Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy"	8/8/2017	-9.3	0.333333333	BLB	3
298232	Simple	114518437	A	.	Conflict	1	5	"not specified;Macular degeneration;Cone-Rod Dystrophy, Recessive;Stargardt Disease, Recessive;Retinitis Pigmentosa, Recessive"	2/2/2017	-12.3	1	BLB	3
298572	Simple	150569584	T	.	Conflict	1	3	Gorlin syndrome;Medulloblastoma;Hereditary cancer-predisposing syndrome	7/20/2017	-9.3	0.666666667	BLB	3
300034	Simple	201813523	T	.	Conflict	1	4	Cockayne syndrome;not specified;Macular degeneration;Cerebrooculofacioskeletal Syndrome	3/16/2017	-9.3	0.75	BLB	3
300394	Simple	71012280	AGGCGAGGCG	.	Conflict	1	6	"Retinitis pigmentosa-deafness syndrome;not specified;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.6	1	BLB	3
300473	Simple	368441850	T	.	Conflict	1	7	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.9	1	BLB	3
300475	Simple	200638595	A	.	Conflict	1	7	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.9	1	BLB	3
300476	Simple	201727938	T	.	Conflict	1	7	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.9	1	BLB	3
300477	Simple	562590210	A	.	Conflict	1	7	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.9	1	BLB	3
300478	Simple	376804660	A	.	Conflict	1	7	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.9	1	BLB	3
300482	Simple	527311705	C	.	Conflict	1	7	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.9	1	BLB	3
300485	Simple	377312107	C	.	Conflict	1	6	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.6	1	BLB	3
300487	Simple	535544696	A	.	Conflict	1	7	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.9	1	BLB	3
300490	Simple	115033851	A	.	Conflict	1	6	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.6	1	BLB	3
300491	Simple	562268606	T	.	Conflict	1	7	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.9	1	BLB	3
300492	Simple	529522213	A	.	Conflict	1	6	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.6	1	BLB	3
300494	Simple	16929375	A	.	Conflict	1	6	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.6	1	BLB	3
300495	Simple	148667421	-	.	Conflict	1	7	"Galactosylceramide beta-galactosidase deficiency;Retinitis pigmentosa-deafness syndrome;Combined saposin deficiency;Metachromatic leukodystrophy;Atypical Gaucher Disease;CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive"	6/14/2016	-12.9	1	BLB	3
301351	Simple	367550999	G	.	Conflict	1	3	not specified;Hereditary cancer-predisposing syndrome;Juvenile Polyposis	6/14/2016	-8.7	1.333333333	BLB	3
301756	Simple	149309642	A	.	Conflict	1	3	"Cutis laxa-corneal clouding-oligophrenia syndrome;Spastic paraplegia 9;Cutis laxa, recessive;not specified;not provided;Cutis laxa, autosomal dominant 3"	10/31/2017	-9.3	0.333333333	BLB	3
301871	Simple	143209062	G	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	7/12/2017	-8.7	1	BLB	3
301872	Simple	148187321	G	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	7/12/2017	-11.7	1	BLB	3
301996	Simple	112718117	C	.	Conflict	1	4	Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome	6/21/2017	-12.6	0.75	BLB	3
302028	Simple	118191062	C	.	Conflict	1	4	Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome	7/14/2017	-12.6	0.75	BLB	3
302131	Simple	144717489	C	.	Conflict	1	4	Jeune thoracic dystrophy;not specified;Short Rib Polydactyly Syndrome	7/28/2017	-12.6	0.75	BLB	3
303740	Simple	539975714	A	.	Conflict	1	6	"Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.9	1	BLB	3
303742	Simple	529946415	G	.	Conflict	1	6	"Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.9	1	BLB	3
303745	Simple	547932593	G	.	Conflict	1	6	"Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.9	1	BLB	3
303778	Simple	201419039	A	.	Conflict	1	4	"Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	8/30/2016	-9.3	1	BLB	3
303791	Simple	541244107	T	.	Conflict	1	4	"Permanent neonatal diabetes mellitus;not specified;Transient Neonatal Diabetes, Dominant;Hyperinsulinism, Dominant/Recessive"	6/14/2016	-9.3	1	BLB	3
303833	Simple	557342549	A	.	Conflict	1	3	"Neuronal ceroid lipofuscinosis;not specified;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive"	6/19/2017	-9.3	0.666666667	BLB	3
305832	Simple	144401213	T	.	Conflict	1	3	"Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S"	12/12/2016	-11.7	1.333333333	BLB	3
305837	Simple	76690064	G	.	Conflict	1	3	"Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy;not specified;SMA: Spinal muscular atrophy;Charcot-Marie-Tooth disease, axonal, type 2S"	2/8/2017	-12.3	1	BLB	3
306539	Simple	112327353	A	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	7/14/2017	-9	1	BLB	3
307550	Simple	139927033	G	.	Conflict	1	4	Joubert syndrome;Meckel-Gruber syndrome;not specified	6/26/2017	-9.6	0.75	BLB	3
307588	Simple	80355657	T	.	Conflict	1	4	"ALG9 congenital disorder of glycosylation;Cutis laxa, recessive;not specified"	1/31/2017	-15.3	1	BLB	3
308156	Simple	369267978	A	.	Conflict	1	4	Timothy syndrome;Long QT syndrome;Brugada syndrome;not specified	5/17/2017	-12	1	BLB	3
310987	Simple	2232639	G	.	Conflict	1	4	Lig4 syndrome;Severe combined immunodeficiency with sensitivity to ionizing radiation;not specified	6/21/2017	-12	1	BLB	3
311023	Simple	199586038	A	.	Conflict	1	4	"Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified"	6/14/2016	-9.27	1.25	BLB	3
311065	Simple	75711155	C	.	Conflict	1	4	"Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephaly;not specified"	6/14/2016	-9.3	1	BLB	3
312617	Simple	202110844	G	.	Conflict	1	5	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	8/1/2017	-9.9	0.6	BLB	3
312626	Simple	144359313	C	.	Conflict	1	5	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	6/28/2017	-9.9	0.8	BLB	3
312628	Simple	75094258	C	.	Conflict	1	5	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	8/2/2017	-12.9	0.8	BLB	3
312631	Simple	139919955	G	.	Conflict	1	6	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	4/22/2017	-12.6	1	BLB	3
312641	Simple	77113510	A	.	Conflict	1	5	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	8/8/2017	-12.3	1	BLB	3
312663	Simple	17541650	T	.	Conflict	1	6	"Charcot-Marie-Tooth disease, axonal, type 2O;not specified;Charcot-Marie-Tooth, Type 2;Spinocerebellar Ataxia, Dominant;Intellectual Disability, Dominant"	7/17/2017	-15.3	0.833333333	BLB	3
312821	Simple	151261004	G	.	Conflict	1	3	Lysinuric protein intolerance;not specified	8/1/2017	-9.3	0.333333333	BLB	3
312839	Simple	200662317	A	.	Conflict	1	5	"Familial hypertrophic cardiomyopathy 14;Atrial septal defect;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant"	9/11/2017	-9.9	0.8	BLB	3
313193	Simple	77374493	T	.	Conflict	1	3	Fanconi anemia;not specified	5/25/2017	-9	1	BLB	3
313877	Simple	144007962	T	.	Conflict	1	3	"not specified;Spastic paraplegia;Spastic Paraplegia, Recessive"	6/19/2017	-12.3	0.666666667	BLB	3
313900	Simple	149276487	C	.	Conflict	1	3	"not specified;Spastic paraplegia;Spastic Paraplegia, Recessive"	11/15/2016	-9.3	1	BLB	3
315708	Simple	572654192	-	.	Conflict	1	10	"Atrial septal defect;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Dilated Cardiomyopathy, Dominant"	6/14/2016	-16.5	1	BLB	3
316095	Simple	141177255	A	.	Conflict	1	3	"Spastic paraplegia 11, autosomal recessive;not specified;Spastic Paraplegia, Recessive"	4/28/2017	-9.3	0.333333333	BLB	3
316364	Simple	199522781	T	.	Conflict	1	10	Marfan syndrome;MASS syndrome;Stiff skin syndrome;Weill-Marchesani syndrome;Acromicric dysplasia;Thoracic aortic aneurysm and aortic dissection;not specified;Geleophysic dysplasia;Ectopia lentis	5/16/2017	-24.6	0.9	B	3
317276	Simple	34405660	A	.	Conflict	1	3	Fanconi anemia;not specified	7/3/2017	-9	1	BLB	3
317326	Simple	555280530	G	.	Conflict	1	3	Progressive sclerosing poliodystrophy;not specified;POLG-Related Spectrum Disorders	7/6/2017	-9.3	0.666666667	BLB	3
318306	Simple	199991910	T	.	Conflict	1	4	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified;Hereditary cancer-predisposing syndrome	8/25/2017	-12	0.75	BLB	3
319336	Simple	151155518	G	.	Conflict	1	4	Glycogen storage disease IXb;Glycogen phosphorylase kinase deficiency;not specified;not provided	6/14/2017	-15.3	0.75	BLB	3
319357	Simple	9934849	T	.	Conflict	1	3	Glycogen storage disease IXb;Glycogen phosphorylase kinase deficiency;not specified	7/26/2017	-9.3	0.333333333	BLB	3
319399	Simple	138409264	T	.	Conflict	1	3	Kohlschutter's syndrome;not provided	7/12/2017	-9.3	0.666666667	BLB	3
321360	Simple	34159559	A	.	Conflict	1	4	Fanconi anemia;not specified;not provided	6/16/2017	-12	0.75	BLB	3
322029	Simple	72553875	TT	.	Conflict	1	3	"Common variable immunodeficiency 2;not provided;Common Variable Immune Deficiency, Dominant"	7/17/2017	11.7	0.333333333	PLP	3
322064	Simple	372207262	C	.	Conflict	1	4	Multiple fibrofolliculomas;Hereditary cancer-predisposing syndrome;Spontaneous pneumothorax	7/24/2017	-9	1.25	BLB	3
324088	Simple	564411753	TTTT	.	Conflict	1	6	"Infantile cortical hyperostosis;Ehlers-Danlos syndrome, type 7A;Osteogenesis Imperfecta, Dominant"	6/14/2016	-9.9	1	BLB	3
324101	Simple	370865189	T	.	Conflict	1	5	"Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant"	9/21/2017	-9.9	0.6	BLB	3
324105	Simple	201682029	G	.	Conflict	1	5	"Infantile cortical hyperostosis;Osteogenesis imperfecta type I;Ehlers-Danlos syndrome, type 7A;not specified;Osteogenesis Imperfecta, Dominant"	3/26/2017	-9.9	0.8	BLB	3
324524	Simple	759982229	A	.	Conflict	1	7	"Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis"	3/6/2017	-18.3	0.857142857	BLB	3
324528	Simple	199827271	T	.	Conflict	1	5	"Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis;not provided;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis"	1/31/2017	-15	1	BLB	3
324531	Simple	201148948	A	.	Conflict	1	8	"Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis"	7/21/2017	-24.3	0.625	B	3
324537	Simple	187401185	C	.	Conflict	1	8	"Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;not provided;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis"	6/20/2017	-27	0.625	B	3
324540	Simple	185941768	T	.	Conflict	1	8	"Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;not specified;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis"	7/28/2017	-24.3	0.625	B	3
324552	Simple	41280110	T	.	Conflict	1	8	"Potassium aggravated myotonia;Paramyotonia congenita of von Eulenburg;Hypokalemic periodic paralysis, type 2;Hyperkalemic Periodic Paralysis Type 1;Congenital myasthenic syndrome, acetazolamide-responsive;Hypokalemic periodic paralysis;not specified;not provided;Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis"	8/4/2017	-26.7	0.875	B	3
324988	Simple	76547988	T	.	Conflict	1	3	Very long chain acyl-CoA dehydrogenase deficiency;not specified	7/13/2017	-12.3	0.666666667	BLB	3
325835	Simple	766938111	T	.	Conflict	1	3	"Mucopolysaccharidosis, MPS-III-A;Sanfilippo syndrome;not provided;Mucopolysaccharidosis Type III"	4/26/2017	8.4	1	PLP	3
327110	Simple	752243771	C	.	Conflict	1	6	Myhre syndrome;Juvenile polyposis syndrome;Osler hemorrhagic telangiectasia syndrome;not specified;Juvenile Polyposis	8/7/2017	-9.9	0.833333333	BLB	3
327959	Simple	55988893	T	.	Conflict	1	3	"Tyrosine kinase 2 deficiency;not specified;Familial Atypical Mycobacteriosis, Autosomal Recessive"	7/24/2017	-9.3	0.666666667	BLB	3
327976	Simple	200191870	T	.	Conflict	1	6	"DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate"	8/8/2017	-12.3	1	BLB	3
327980	Simple	201575500	G	.	Conflict	1	5	"DNM2-related intermediate Charcot-Marie-Tooth neuropathy;not specified;Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate"	4/4/2017	-9.6	0.8	BLB	3
329032	Simple	754476250	T	.	Conflict	1	5	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;RYR1-Related Disorders"	2/1/2017	-12.3	1	BLB	3
329041	Simple	886054392	-	.	Conflict	1	7	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;RYR1-Related Disorders"	5/1/2017	-18.3	0.857142857	BLB	3
329090	Simple	199738299	G	.	Conflict	1	6	"Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;Malignant hyperthermia susceptibility;Multiminicore Disease;not specified;not provided;RYR1-Related Disorders"	8/21/2017	-12.6	0.666666667	BLB	3
329250	Simple	76088917	G	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	7/5/2017	-12.3	0.666666667	BLB	3
329253	Simple	143289108	T	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4"	5/8/2017	-12.3	0.666666667	BLB	3
329598	Simple	139897733	TTATTTAT	.	Conflict	1	4	"3-Methylglutaconic aciduria type 3;Optic Atrophy, Dominant"	6/14/2016	-12.6	1	BLB	3
329805	Simple	5452	A	.	Conflict	1	4	"Glycogen storage disease 0, muscle;Hyperferritinemia cataract syndrome;Neuroferritinopathy;not specified"	7/7/2017	-9.3	0.75	BLB	3
329809	Simple	145789213	A	.	Conflict	1	4	"Glycogen storage disease 0, muscle;Hyperferritinemia cataract syndrome;Neuroferritinopathy;not specified"	6/5/2017	-9.3	0.75	BLB	3
329879	Simple	145574885	T	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type 2;not specified;Charcot-Marie-Tooth, Type 2"	7/18/2017	-8.7	1	BLB	3
330217	Simple	559008223	A	.	Conflict	1	5	"Primary ciliary dyskinesia;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome"	6/14/2016	-12.3	1	BLB	3
331383	Simple	61750442	G	.	Conflict	1	5	Methylmalonic acidemia with homocystinuria cblD;Methylmalonic acidemia;Disorders of Intracellular Cobalamin Metabolism;not specified;not provided	7/26/2017	-15	1	BLB	3
331432	Simple	762865768	AAAA	.	Conflict	1	3	"not specified;Nemaline Myopathy, Recessive"	6/14/2016	-8.4	1.666666667	BLB	3
331500	Simple	146310692	T	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	4/27/2017	-9.3	0.666666667	BLB	3
331508	Simple	142074817	A	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	5/22/2017	-9.3	0.333333333	BLB	3
331514	Simple	34234609	T	.	Conflict	1	3	"Nemaline myopathy 2;not provided;Nemaline Myopathy, Recessive"	8/28/2017	-9.3	0.333333333	BLB	3
331517	Simple	144376972	A	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	7/17/2017	-9.3	0.333333333	BLB	3
331530	Simple	146460133	A	.	Conflict	1	3	"Nemaline myopathy 2;not specified;Nemaline Myopathy, Recessive"	4/26/2017	-9.3	0.666666667	BLB	3
331737	Simple	199698414	C	.	Conflict	1	5	"Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified;Early Infantile Epileptic Encephalopathy, Autosomal Dominant"	6/14/2017	-9.6	0.8	BLB	3
331831	Simple	77106136	C	.	Conflict	1	5	Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified	8/2/2017	-15.6	0.8	BLB	3
331974	Simple	188145203	T	.	Conflict	1	8	Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia	6/20/2016	-21.3	1	BLB	3
331988	Simple	199748300	T	.	Conflict	1	8	Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Generalized epilepsy with febrile seizures plus;Small fiber neuropathy;not specified;Congenital Indifference to Pain;Familial Febrile Seizures;Inherited Erythromelalgia	5/17/2017	-21.3	0.875	BLB	3
332440	Simple	61737716	A	.	Conflict	1	4	"Multiple pterygium syndrome Escobar type;Lethal multiple pterygium syndrome;not specified;Congenital Myasthenic Syndrome, Dominant/Recessive"	6/27/2017	-9.6	0.5	BLB	3
332743	Simple	760858743	T	.	Conflict	1	8	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	5/26/2017	-13.2	1	BLB	3
332788	Simple	368692510	G	.	Conflict	1	8	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	11/26/2016	-10.2	1.125	BLB	3
332956	Simple	145709534	T	.	Conflict	1	8	"Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Myopathy, early-onset, with fatal cardiomyopathy;not specified;Hypertrophic cardiomyopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive"	7/27/2017	-10.2	1	BLB	3
333732	Simple	140049646	G	.	Conflict	1	3	"Common variable immunodeficiency 1;not specified;Common Variable Immune Deficiency, Recessive"	8/7/2017	-12.3	0.666666667	BLB	3
333874	Simple	202233735	C	.	Conflict	1	2	Cataract 4;Cataract	7/19/2017	-9	0.5	BLB	3
334125	Simple	148170480	T	.	Conflict	1	6	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1"	8/1/2017	-10.2	0.5	BLB	3
334155	Simple	142448733	T	.	Conflict	1	4	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1"	7/26/2017	-9.6	0.5	BLB	3
334158	Simple	72653073	G	.	Conflict	1	4	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1"	7/10/2017	-9.6	0.75	BLB	3
334173	Simple	12714225	G	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/14/2017	-18.27	1	BLB	3
334184	Simple	6752026	A	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;Hypobetalipoproteinemia, familial, 1"	7/24/2017	-18.27	0.8	BLB	3
334187	Simple	186544754	A	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypobetalipoproteinemia;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	8/15/2017	-9.9	0.4	BLB	3
334399	Simple	77583146	A	.	Conflict	1	5	"Odontoonychodermal dysplasia;Schopf-Schulz-Passarge syndrome;Tooth agenesis, selective, 4;not specified;Selective tooth agenesis"	8/22/2017	-15.3	0.6	BLB	3
334883	Simple	17853011	C	.	Conflict	1	3	"Basal ganglia disease, biotin-responsive;not specified;Thiamine Metabolism Dysfunction Syndrome"	6/20/2017	-9.3	0.333333333	BLB	3
335256	Simple	191428830	T	.	Conflict	1	5	"Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive"	8/4/2017	-15.3	0.8	BLB	3
335266	Simple	144520412	A	.	Conflict	1	6	"Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive"	8/2/2017	-13.2	0.666666667	BLB	3
335281	Simple	565992344	A	.	Conflict	1	5	"Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive"	6/19/2017	-9.9	0.8	BLB	3
335282	Simple	141052770	A	.	Conflict	1	6	"Spastic paraplegia 30, autosomal recessive;Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Mental retardation, autosomal dominant 9;not specified;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive"	8/3/2017	-12.9	0.666666667	BLB	3
335389	Simple	144414842	C	.	Conflict	1	4	Mitochondrial trifunctional protein deficiency;Trifunctional protein deficiency with myopathy and neuropathy;Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;not specified;LCHAD Deficiency	6/29/2017	-9.6	0.5	BLB	3
336439	Simple	886056141	T	.	Conflict	1	4	Lynch syndrome;Hereditary cancer-predisposing syndrome	7/10/2016	-9	1.25	BLB	3
336969	Simple	145401010	G	.	Conflict	1	5	"Dysferlinopathy;not specified;Miyoshi myopathy;Limb-Girdle Muscular Dystrophy, Recessive"	6/29/2017	-12.6	0.6	BLB	3
337114	Simple	369653963	C	.	Conflict	1	3	Congenital disorder of glycosylation type 2B;Congenital disorder of glycosylation;not specified	8/3/2017	-9.3	0.333333333	BLB	3
338163	Simple	143462810	G	.	Conflict	1	2	"Kabuki syndrome 1;Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency"	7/3/2017	-9	0.5	BLB	3
338756	Simple	16995639	G	.	Conflict	1	3	Congenital disorder of glycosylation type 1E;Congenital disorder of glycosylation;not specified	8/1/2017	-9.3	0.333333333	BLB	3
340183	Simple	5030667	A	.	Conflict	1	3	Leukocyte adhesion deficiency type 1;Leukocyte adhesion deficiency;not specified	8/21/2017	-12.3	0.666666667	BLB	3
340368	Simple	144334894	A	.	Conflict	1	4	Bethlem myopathy 1;Collagen VI-related myopathy;not specified;Myosclerosis	8/3/2017	-9.3	0.5	BLB	3
341191	Simple	35915865	C	.	Conflict	1	3	Transcobalamin II deficiency;not specified	7/21/2017	-12.3	0.333333333	BLB	3
341438	Simple	34642406	C	.	Conflict	1	5	"Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;not specified;Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg Syndrome"	9/14/2017	-12.6	0.6	BLB	3
342176	Simple	180979987	A	.	Conflict	1	3	"Muscular dystrophy, congenital, megaconial type;not specified;Congenital Muscular Dystrophy, CHKB-related"	8/25/2017	-9.3	0.333333333	BLB	3
342177	Simple	138205828	C	.	Conflict	1	3	"Muscular dystrophy, congenital, megaconial type;not specified;Congenital Muscular Dystrophy, CHKB-related"	6/9/2017	-9.3	0.666666667	BLB	3
342802	Simple	200620134	T	.	Conflict	1	5	"Hypoparathyroidism familial isolated;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;Familial hypocalciuric hypercalcemia;Hypocalcemia;Hypocalcemia, autosomal dominant 1"	2/27/2017	-12.3	1	BLB	3
342866	Simple	56262958	A	.	Conflict	1	4	"Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection;not specified"	1/9/2017	-15.3	1	BLB	3
343504	Simple	149883381	T	.	Conflict	1	4	"Arrhythmogenic right ventricular cardiomyopathy, type 5;not specified;Cardiomyopathy, ARVC"	10/23/2017	-12.3	0.25	BLB	3
344910	Simple	550890395	T	.	Conflict	1	5	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	5/25/2017	-12	0.8	BLB	3
345125	Simple	191840835	T	.	Conflict	1	9	"Long QT syndrome;Romano-Ward syndrome;Brugada syndrome;not specified;Sick sinus syndrome;Progressive familial heart block;Paroxysmal familial ventricular fibrillation;Dilated Cardiomyopathy, Dominant"	3/23/2017	-10.5	1	BLB	3
346117	Simple	777417522	A	.	Conflict	1	4	Tumor susceptibility linked to germline BAP1 mutations;Hereditary cancer-predisposing syndrome	2/23/2017	-9.3	1	BLB	3
347302	Simple	146964054	T	.	Conflict	1	3	Long QT syndrome;not specified	4/10/2017	-11.7	1	BLB	3
347498	Simple	78457123	A	.	Conflict	1	3	Bardet-Biedl syndrome;not provided	2/3/2017	-9.3	1	BLB	3
348984	Simple	201800139	T	.	Conflict	1	4	Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome	4/27/2017	-12	1	BLB	3
348998	Simple	186058156	G	.	Conflict	1	3	Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;Ellis-van Creveld Syndrome	4/19/2017	-12.3	0.666666667	BLB	3
349008	Simple	61733673	G	.	Conflict	1	3	Congenital disorder of glycosylation;not specified;not provided	2/22/2017	-9.3	1	BLB	3
349081	Simple	565481824	AAAA	.	Conflict	1	4	Chondroectodermal dysplasia;Curry-Hall syndrome;not specified;not provided;Ellis-van Creveld Syndrome	7/28/2017	-9.54	1	BLB	3
350421	Simple	769603145	A	.	Conflict	1	5	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	2/16/2017	-12	1.2	BLB	3
350422	Simple	543396310	G	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome;APC-Associated Polyposis Disorders	7/17/2017	-9.6	0.25	BLB	3
350638	Simple	34649270	T	.	Conflict	1	3	"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified"	8/2/2017	-9.3	0.666666667	BLB	3
350644	Simple	142947482	T	.	Conflict	1	4	"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified"	10/27/2017	-15.3	0.25	BLB	3
350664	Simple	139929890	T	.	Conflict	1	3	"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified"	8/2/2017	-9.3	0.666666667	BLB	3
350665	Simple	116500162	A	.	Conflict	1	3	"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified"	5/15/2017	-9.3	0.666666667	BLB	3
350669	Simple	185480820	T	.	Conflict	1	4	"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified"	7/31/2017	-12.3	0.25	BLB	3
351200	Simple	201639682	-	.	Conflict	1	3	Primary ciliary dyskinesia;not specified	12/29/2016	-12.3	1	BLB	3
351519	Simple	142558269	T	.	Conflict	1	3	Netherton syndrome;not provided	7/31/2017	-9.3	0.333333333	BLB	3
351896	Simple	144873879	G	.	Conflict	1	5	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve"	6/12/2017	-15	0.8	BLB	3
351900	Simple	193067884	A	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve"	6/28/2017	-12.6	0.75	BLB	3
351903	Simple	76488338	T	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve"	7/17/2017	-12	1	BLB	3
351917	Simple	141289653	A	.	Conflict	1	4	"Charcot-Marie-Tooth disease, type IV;not specified;Charcot-Marie-Tooth, Type 4;Mononeuropathy of the Median Nerve"	8/4/2017	-9.6	0.75	BLB	3
353099	Simple	112155474	T	.	Conflict	1	3	"Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified;not provided"	10/31/2017	-9.3	0.333333333	BLB	3
353113	Simple	149391669	A	.	Conflict	1	3	"Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified"	7/24/2017	-9.3	0.666666667	BLB	3
353120	Simple	61731454	C	.	Conflict	1	3	"Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified"	7/13/2017	-9.3	0.333333333	BLB	3
353121	Simple	61757478	A	.	Conflict	1	3	"Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified"	6/23/2017	-9.3	0.333333333	BLB	3
353123	Simple	41285549	T	.	Conflict	1	3	"Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified"	7/31/2017	-9.3	0.333333333	BLB	3
353148	Simple	752142266	-	.	Conflict	1	3	"Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified"	7/18/2017	-9.3	0.666666667	BLB	3
353203	Simple	146653693	T	.	Conflict	1	6	Pheochromocytoma;Leigh syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not specified;Hereditary cancer-predisposing syndrome	8/5/2017	-9.9	0.666666667	BLB	3
353439	Simple	141575785	C	.	Conflict	1	3	Joubert syndrome;Orofaciodigital syndrome 6;not specified;Joubert syndrome 17	2/22/2017	-9.3	1	BLB	3
355292	Simple	56209257	T	.	Conflict	1	3	"Laminin alpha 2-related dystrophy;not specified;Congenital Muscular Dystrophy, LAMA2-related"	4/3/2017	-9.3	0.666666667	BLB	3
356285	Simple	150920440	T	.	Conflict	1	4	Atypical hemolytic uremic syndrome;Complement component 2 deficiency;not provided;Macular degeneration	2/28/2017	-12	1	BLB	3
356383	Simple	141254777	A	.	Conflict	1	6	"Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant"	5/31/2017	-15.3	0.833333333	BLB	3
356407	Simple	201179101	A	.	Conflict	1	6	"Weissenbacher-Zweymuller syndrome;Fibrochondrogenesis;Otospondylomegaepiphyseal dysplasia;not specified;Nonsyndromic Hearing Loss, Dominant;Stickler Syndrome, Dominant"	10/17/2016	-15.3	1	BLB	3
357561	Simple	141573097	G	.	Conflict	1	3	"Neuropathy, hereditary sensory and autonomic, type VI;not provided;Epidermolysis bullosa simplex, autosomal recessive 2"	7/25/2017	-9.3	0.333333333	BLB	3
357644	Simple	45479896	C	.	Conflict	1	3	Carpenter syndrome 1;not provided;Carpenter syndrome	7/13/2017	-9.3	0.666666667	BLB	3
357958	Simple	376186141	C	.	Conflict	1	6	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	6/16/2017	-10.2	0.833333333	BLB	3
357959	Simple	562015789	T	.	Conflict	1	6	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	5/1/2017	-15.27	1	BLB	3
357961	Simple	557263443	A	.	Conflict	1	5	"Cardiomyopathy dilated with woolly hair and keratoderma;Arrhythmogenic right ventricular cardiomyopathy, type 8;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Cardiomyopathy, ARVC"	6/14/2016	-12.3	1	BLB	3
357965	Simple	147484870	C	.	Conflict	1	5	"Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified;Cardiomyopathy, ARVC"	8/3/2017	-12.3	0.8	BLB	3
358390	Simple	115379833	A	.	Conflict	1	3	"Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive"	6/13/2017	-9.3	0.666666667	BLB	3
358417	Simple	114627891	A	.	Conflict	1	3	"Lissencephaly 2;not specified;Epilepsy, familial temporal lobe, 7;Lissencephaly, Recessive"	6/8/2017	-12.3	0.333333333	BLB	3
358462	Simple	74443110	C	.	Conflict	1	3	Congenital disorder of glycosylation;Congenital disorder of glycosylation type 2i;not specified	8/1/2016	-11.7	1.333333333	BLB	3
358465	Simple	74522314	C	.	Conflict	1	3	Congenital disorder of glycosylation;Congenital disorder of glycosylation type 2i;not specified	11/15/2016	-12.3	1	BLB	3
359048	Simple	201481342	C	.	Conflict	1	4	Noonan syndrome with multiple lentigines;Noonan syndrome;not specified;Cardio-facio-cutaneous syndrome	5/1/2017	-9.3	0.75	BLB	3
359114	Simple	140205115	C	.	Conflict	1	4	"Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal dominant form;Myotonia congenita;not specified"	10/2/2017	-9.3	0.5	BLB	3
359592	Simple	61744487	A	.	Conflict	1	3	"not specified;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7;Congenital Muscular Dystrophy, alpha-dystroglycan related"	6/20/2017	-9.3	0.666666667	BLB	3
360008	Simple	199741850	G	.	Conflict	1	4	"not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2"	1/16/2017	-9.3	1	BLB	3
360011	Simple	192443850	G	.	Conflict	1	5	"Charcot-Marie-Tooth disease, type 2;not specified;Peripheral axonal neuropathy;Distal spinal muscular atrophy;Charcot-Marie-Tooth, Type 2"	7/14/2017	-9.6	0.8	BLB	3
363914	Simple	886063169	T	.	Conflict	1	4	"Microcephaly, normal intelligence and immunodeficiency;not specified;Hereditary cancer-predisposing syndrome"	9/26/2016	-9	1.25	BLB	3
364581	Simple	111936933	T	.	Conflict	1	3	Familial dysautonomia;not specified	5/30/2017	-9.3	0.333333333	BLB	3
364614	Simple	199832657	T	.	Conflict	1	3	"Pena-Shokeir syndrome type I;not specified;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Congenital Myasthenic Syndrome, Recessive"	11/14/2016	-12.3	1	BLB	3
365032	Simple	147734401	T	.	Conflict	1	3	"not specified;Charcot-Marie-Tooth disease type 2P;Charcot-Marie-Tooth, Type 2"	6/22/2017	-9.3	0.333333333	BLB	3
365196	Simple	28365522	T	.	Conflict	1	3	Congenital disorder of glycosylation type 1M;Congenital disorder of glycosylation;not specified	7/19/2017	-9.3	0.666666667	BLB	3
365342	Simple	34000644	A	.	Conflict	1	4	"Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia"	5/8/2017	-12.3	0.75	BLB	3
365376	Simple	145438764	C	.	Conflict	1	6	"Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not specified;not provided;Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia"	7/20/2017	-12.6	0.5	BLB	3
366732	Simple	45537335	G	.	Conflict	1	5	"Fanconi anemia;not specified;Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant"	12/2/2016	-15	1.2	BLB	3
366760	Simple	148186264	A	.	Conflict	1	3	not specified;Hyperphosphatasia with mental retardation syndrome 2;Hyperphosphatasia with Intellectual Disability Syndrome	7/25/2017	-9.3	0.666666667	BLB	3
366995	Simple	75411647	G	.	Conflict	1	3	"Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified;Hyper-IgE syndrome"	8/11/2017	-9.3	0.666666667	BLB	3
367173	Simple	73639325	C	.	Conflict	1	4	Non-ketotic hyperglycinemia;not specified;not provided	8/11/2017	-15.3	0.5	BLB	3
371439	Simple	80338671	C	.	Conflict	1	4	"Glycogen storage disease, type IV;Glycogen storage disease IV, classic hepatic;not specified"	6/29/2017	11.7	0.5	PLP	3
374508	Simple	201446579	G	.	Conflict	1	2	Alstrom syndrome;not specified;not provided	7/4/2017	-9	0	BLB	3
374622	Simple	141674976	A	.	Conflict	1	2	Mowat-Wilson syndrome;not specified;not provided	5/23/2017	-8.4	1	BLB	3
374635	Simple	79901179	G	.	Conflict	1	3	Giant axonal neuropathy;not specified;not provided	9/25/2017	-12	0	BLB	3
374666	Simple	117914586	G	.	Conflict	1	2	"not specified;not provided;Interstitial lung and liver disease;Charcot-Marie-Tooth disease, axonal, type 2u"	8/8/2017	-9	0	BLB	3
374745	Simple	769406687	T	.	Conflict	1	2	"not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided"	5/1/2017	-9	0.5	BLB	3
375852	Simple	28362277	C	.	Conflict	1	3	"Hypercholesterolemia, autosomal dominant, 3;Familial hypercholesterolemia"	6/27/2017	-9.27	1	BLB	3
377573	Simple	750905289	C	.	Conflict	1	3	Hereditary breast and ovarian cancer syndrome;not specified;Hereditary cancer-predisposing syndrome	3/21/2017	-9	0.666666667	BLB	3
377641	Simple	202115589	C	.	Conflict	1	4	Hereditary diffuse gastric cancer;not specified;Hereditary cancer-predisposing syndrome	10/17/2016	-9	1.25	BLB	3
378095	Simple	150806357	A	.	Conflict	1	3	Majeed syndrome;not specified	10/26/2017	-9.3	0.333333333	BLB	3
378115	Simple	147455836	G	.	Conflict	1	2	"Mental retardation, autosomal dominant 1;not specified;not provided"	10/31/2017	-9	0	BLB	3
378735	Simple	200900510	T	.	Conflict	1	2	Behcet's syndrome;TNF receptor-associated periodic fever syndrome (TRAPS);not specified	8/28/2017	-9	0	BLB	3
379658	Simple	189557655	T	.	Conflict	1	3	"Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified"	4/25/2017	-9.3	0.666666667	BLB	3
380142	Simple	45516107	A	.	Conflict	1	3	ALG9 congenital disorder of glycosylation;not specified;not provided	9/15/2017	-9.3	0	BLB	3
380323	Simple	754270436	T	.	Conflict	1	3	not specified;Hereditary cancer-predisposing syndrome	4/11/2017	-8.4	1.333333333	BLB	3
380553	Simple	113808165	A	.	Conflict	1	2	"not specified;not provided;Interstitial lung and liver disease;Charcot-Marie-Tooth disease, axonal, type 2u"	6/28/2017	-9	0	BLB	3
380569	Simple	140280672	T	.	Conflict	1	2	"Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified"	5/17/2017	-8.7	1	BLB	3
381211	Simple	147438064	A	.	Conflict	1	2	"Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified;not provided"	7/10/2017	-9	0	BLB	3
381364	Simple	139949679	T	.	Conflict	1	4	Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome	7/16/2017	-9	1	BLB	3
382040	Simple	138321172	G	.	Conflict	1	2	"not specified;not provided;Charcot-Marie-Tooth disease, X-linked dominant, 6"	6/12/2017	-8.7	1	BLB	3
382306	Simple	876660891	G	.	Conflict	1	5	"Familial cancer of breast;Fanconi anemia, complementation group J;not specified;Hereditary cancer-predisposing syndrome"	5/8/2017	-12	1	BLB	3
382924	Simple	142190930	C	.	Conflict	1	3	"not specified;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8"	7/17/2017	-9.3	0.666666667	BLB	3
383199	Simple	372365378	G	.	Conflict	1	4	Familial adenomatous polyposis 1;not specified;Hereditary cancer-predisposing syndrome	9/5/2017	-8.7	1	BLB	3
383215	Simple	149403824	G	.	Conflict	1	3	"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified"	8/1/2017	-9.3	0.666666667	BLB	3
383934	Simple	745838504	G	.	Conflict	1	4	"not specified;Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome"	8/29/2017	-9	0.75	BLB	3
384812	Simple	1801703	T	.	Conflict	1	5	"Hypercholesterolemia, autosomal dominant, type B;Familial hypercholesterolemia;not specified;Hypobetalipoproteinemia, familial, 1"	7/27/2017	-15.54	1	BLB	3
385077	Simple	200279483	G	.	Conflict	1	3	"Charcot-Marie-Tooth disease, type 2;not specified;not provided"	6/6/2017	-12	0.333333333	BLB	3
385198	Simple	776167760	C	.	Conflict	1	4	Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome	7/17/2017	-9	1	BLB	3
386386	Simple	75914945	T	.	Conflict	1	3	"Epilepsy, childhood absence 1;Epilepsy, childhood absence 5;not specified;not provided"	6/16/2017	-12	0.333333333	BLB	3
387376	Simple	773490152	A	.	Conflict	1	4	not specified;Hereditary cutaneous melanoma;Hereditary cancer-predisposing syndrome	1/17/2017	-9	1.25	BLB	3
388555	Simple	990650403	G	.	Conflict	1	4	Lynch syndrome;not specified;Hereditary cancer-predisposing syndrome	8/30/2017	-9	1	BLB	3
389495	Simple	369562243	T	.	Conflict	1	3	"not specified;Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided"	6/26/2017	-9.3	0.666666667	BLB	3
389984	Simple	200943828	A	.	Conflict	1	3	Tuberous sclerosis 2;not specified;Hereditary cancer-predisposing syndrome	9/21/2017	-9.3	0.333333333	BLB	3
391015	Simple	759019419	T	.	Conflict	1	4	Colorectal cancer 10;not specified;Hereditary cancer-predisposing syndrome	7/18/2017	-12	0.75	BLB	3
391473	Simple	370462886	G	.	Conflict	1	4	not specified;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	9/29/2017	-9.3	0.5	BLB	3
406663	Simple	1060501244	A	.	Conflict	1	3	Hereditary diffuse gastric cancer;Hereditary cancer-predisposing syndrome	9/19/2017	8.7	0.333333333	PLP	3
410549	Simple	779850240	-	.	Conflict	1	3	"Breast-ovarian cancer, familial 4;not specified;Hereditary cancer-predisposing syndrome"	8/20/2017	-8.7	1	BLB	3
413425	Simple	79129097	C	.	Conflict	1	3	"Aortic aneurysm, familial thoracic 4;not specified"	8/15/2017	-9.3	0	BLB	3
413910	Simple	144158469	T	.	Conflict	1	3	Gorlin syndrome;Medulloblastoma;not specified;Hereditary cancer-predisposing syndrome	7/6/2017	-9.3	0	BLB	3
414028	Simple	786202546	G	.	Conflict	1	4	Li-Fraumeni syndrome;not specified;Hereditary cancer-predisposing syndrome	10/12/2017	-9	1	BLB	3
414709	Simple	150547487	C	.	Conflict	1	4	Fanconi anemia;not specified	5/16/2017	-9.3	0.75	BLB	3
419798	Simple	561425038	A	.	Conflict	1	3	"Breast-ovarian cancer, familial 4;not provided"	3/17/2017	8.7	0.666666667	PLP	3
447626	Simple	200532657	T	.	Conflict	1	3	Spinocerebellar ataxia 19;not specified	8/14/2017	-12.3	0	BLB	3