Variant ID	Chromosome	Position	Ref	Alt	Allele ID	Clinical Significance	Disease Name	Frequency GO-ESP	Frequency EXAC	Frequency 1000 Genomes Project	GT	Zygosity	URL
0	263159	1	977570	G	A	249309	Benign	not_specified|not_provided	0.77412	0.89464	0.79413	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1	677947	1	977780	C	T	656915	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2	263160	1	978603	CCT	C	249310	Benign	not_specified	0.39941	0.56094	0.47923	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3	677948	1	980460	G	A	656961	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4	263172	1	981087	A	G	249321	Benign	not_specified|not_provided	0.83208	0.91275	0.86941	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5	263175	1	981328	C	G	249324	Likely_benign	not_specified	0.00023	0.00018	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6	128297	1	981931	A	G	133746	Benign	not_specified	0.78022	0.87675	0.79772	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7	677950	1	982444	A	G	656892	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8	677951	1	982462	T	C	656963	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9	677952	1	982513	T	C	656900	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10	263181	1	982941	T	C	249331	Benign	not_specified	0.76657	.	0.79992	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11	128302	1	982994	T	C	133751	Benign	not_specified	0.79117	0.89893	0.83586	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12	679293	1	984171	CAG	C	656918	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13	128307	1	984302	T	C	133756	Benign	not_specified	0.45863	0.62948	0.54573	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14	263188	1	985266	C	T	249338	Benign	not_specified	0.40222	0.54365	0.49521	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
15	263191	1	985446	G	T	249341	Benign	not_specified	.	0.45665	0.33546	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
16	263192	1	985449	G	A	249342	Benign	not_specified	.	0.53006	0.52556	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
17	677954	1	986443	C	T	656926	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
18	128317	1	987200	C	T	133766	Benign	not_specified	0.75692	0.87569	0.78874	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
19	677955	1	988932	G	C	656939	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
20	128319	1	990280	C	T	133768	Benign	not_specified	0.57916	0.63764	0.58526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
21	256824	1	1956362	G	A	249668	Benign	not_specified	0.8197	0.80444	0.77556	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
22	256823	1	1957037	T	C	249669	Benign	not_specified|not_provided	0.6843	0.59339	0.5613	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
23	672361	1	2234251	A	G	657433	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
24	673794	1	2234903	C	T	657434	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
25	262791	1	2337277	C	T	249841	Benign/Likely_benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	0.08205	0.15296	0.08087	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
26	135349	1	2488153	A	G	139088	not_provided	not_specified	0.55803	0.54431	0.61482	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
27	133399	1	2490609	T	C	137138	not_provided	not_specified	.	0.00613	0.0014	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
28	133404	1	2490898	C	A	137143	not_provided	not_specified	.	0.58991	0.64078	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
29	133406	1	2490942	C	A	137145	not_provided	not_specified	.	.	0.59784	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
30	133414	1	2491205	C	T	137153	not_provided	not_specified	.	0.65961	0.64397	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
31	135355	1	2494330	G	A	139094	not_provided	not_specified	0.12333	0.12953	0.11382	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
32	674706	1	2985885	C	G	657839	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
33	674729	1	3312963	C	T	657891	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
34	674731	1	3313282	G	A	657892	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
35	683706	1	3319061	A	G	657896	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
36	674732	1	3319674	C	T	657843	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
37	674733	1	3319681	C	G	657844	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
38	674735	1	3321134	G	A	657849	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
39	669552	1	3321715	G	C	657852	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
40	227026	1	3328358	T	C	228438	Benign	Left_ventricular_noncompaction_8|not_specified	0.87774	.	0.94509	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
41	227027	1	3328659	C	T	228440	Benign	not_specified	0.15231	0.13103	0.10603	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
42	381194	1	3329384	C	T	365234	Benign	not_specified	0.13828	0.21551	0.10703	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
43	678600	1	3330884	G	A	657927	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
44	674714	1	3342530	G	A	657890	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
45	683707	1	3348268	G	C	657895	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
46	260559	1	5925371	G	A	249994	Benign	not_specified	0.3379	0.44579	0.31789	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
47	95683	1	5926507	T	C	101580	Benign	Nephronophthisis|Renal_dysplasia_and_retinal_a...	0.34902	0.46043	0.31969	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
48	260554	1	5934490	A	G	249999	Benign	not_specified	0.67292	0.65657	0.56929	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
49	260553	1	5934500	T	C	250000	Benign	not_specified	0.17498	0.31427	0.27117	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
50	167375	1	5935162	A	T	177885	Benign	Nephronophthisis_4|not_specified|not_provided	0.84313	0.83625	0.84325	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
51	260547	1	5937391	C	T	250004	Benign	not_specified	0.85155	0.81079	0.83267	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
52	682801	1	6517179	G	C	658000	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
53	682802	1	6520024	C	A	658028	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
54	297904	1	6526183	G	A	281043	Benign	Distal_spinal_muscular_atrophy	0.16589	0.16938	0.20228	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
55	297905	1	6526202	CCGTGCTCT	C	281645	Benign	Distal_spinal_muscular_atrophy	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
56	297906	1	6526240	GCGCC	G	281648	Benign	Distal_spinal_muscular_atrophy	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
57	297910	1	6526319	C	T	281658	Likely_benign	Distal_spinal_muscular_atrophy	.	.	0.08626	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
58	297912	1	6526465	C	G	283150	Benign	Distal_spinal_muscular_atrophy	.	.	0.20427	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
59	297916	1	6526633	G	A	283153	Benign	Distal_spinal_muscular_atrophy	.	.	0.20108	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
60	297928	1	6527333	A	G	282866	Benign	Distal_spinal_muscular_atrophy	.	.	0.26697	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
61	667940	1	6527745	C	T	658030	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
62	285568	1	6528589	C	T	269805	Benign/Likely_benign	Distal_spinal_muscular_atrophy|not_specified	0.06261	0.05353	0.05571	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
63	194979	1	6529182	TTCC	T	192141	Benign/Likely_benign	Distal_spinal_muscular_atrophy|not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
64	194881	1	6529443	A	G	192043	Benign	Distal_spinal_muscular_atrophy|not_specified	0.28718	0.17234	0.26957	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
65	667938	1	6530189	G	A	657887	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
66	670557	1	6530965	C	CG	657962	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
67	297959	1	6531589	C	T	281077	Likely_benign	Distal_spinal_muscular_atrophy	0.06775	0.06293	0.05531	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
68	198895	1	6533393	G	C	196055	Benign	Distal_spinal_muscular_atrophy|not_specified	0.2727	0.22124	0.28574	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
69	667937	1	6534781	G	A	658029	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
70	298113	1	8021778	T	C	283315	Benign	Parkinson_Disease,_Recessive	.	.	0.63738	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
71	721172	1	8568701	G	A	719112	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
72	260540	1	10338204	C	T	249268	Benign	not_specified	0.03083	0.03267	0.01458	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
73	129400	1	10421878	A	G	134846	Benign/Likely_benign	Pheochromocytoma|Neuroblastoma|Charcot-Marie-T...	0.09034	0.11276	0.08027	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
74	291606	1	10437778	C	T	275918	Likely_benign	Pheochromocytoma|Neuroblastoma|Charcot-Marie-T...	.	.	0.09365	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
75	291608	1	10437804	G	A	275756	Likely_benign	Pheochromocytoma|Neuroblastoma|Charcot-Marie-T...	.	.	0.09365	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
76	291609	1	10437995	G	GA	275764	Uncertain_significance	Pheochromocytoma|Neuroblastoma|Charcot-Marie-T...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
77	291618	1	10438687	C	T	275844	Benign	Pheochromocytoma|Neuroblastoma|Charcot-Marie-T...	.	.	0.54653	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
78	368794	1	10441664	T	C	353023	Benign	Pheochromocytoma|Neuroblastoma|Charcot-Marie-T...	.	.	0.52696	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
79	95145	1	10678488	A	T	101045	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	0.18653	0.15787	0.19489	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
80	167454	1	10689942	G	T	177935	Benign/Likely_benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	0.14082	0.15776	0.10363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
81	522225	1	11080723	T	TG	512791	Benign	Amyotrophic_lateral_sclerosis_type_10	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
82	291763	1	11085004	A	ATGTTT	276114	Benign	Frontotemporal_dementia|MASP2_deficiency|Amyot...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
83	291772	1	11086717	A	G	275885	Benign	Frontotemporal_dementia|MASP2_deficiency|Amyot...	.	.	0.70967	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
84	291781	1	11087524	G	A	275846	Benign	Frontotemporal_dementia|MASP2_deficiency|not_s...	0.67315	0.7855	0.6875	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
85	291785	1	11090897	A	G	275927	Likely_benign	MASP2_deficiency	0.05536	0.05285	0.11841	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
86	291790	1	11097867	C	T	275866	Benign	MASP2_deficiency	0.0835	0.06177	0.13139	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
87	516652	1	11181327	C	T	497964	Benign	not_specified	0.30209	0.21844	0.22065	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
88	380311	1	11190646	G	A	364358	Benign	not_specified	0.30594	0.22152	0.22863	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
89	516653	1	11301714	A	G	498006	Benign	not_specified	0.58535	0.71698	0.63958	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
90	291872	1	11346336	A	G	275981	Likely_benign	Schnyder_crystalline_corneal_dystrophy	.	.	0.00919	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
91	291887	1	11347155	C	CTGTT	276079	Benign	Schnyder_crystalline_corneal_dystrophy	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
92	292153	1	11846092	G	GT	276302	Benign	Neural_tube_defects,_folate-sensitive	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
93	292158	1	11846252	G	A	276582	Likely_benign	Neural_tube_defects,_folate-sensitive	.	.	0.70647	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
94	292160	1	11846447	G	A	276602	Benign	Neural_tube_defects,_folate-sensitive	.	.	0.93331	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
95	292171	1	11847334	G	GGAA	276604	Likely_benign	Neural_tube_defects,_folate-sensitive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
96	292181	1	11847759	C	T	276668	Likely_benign	Neural_tube_defects,_folate-sensitive	.	.	0.55851	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
97	292191	1	11848139	G	A	276111	Likely_benign	Neural_tube_defects,_folate-sensitive	.	0.23678	0.1268	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
98	292203	1	11848879	A	G	276650	Benign	Neural_tube_defects,_folate-sensitive	.	.	0.93051	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
99	292209	1	11849447	A	G	276356	Benign	Neural_tube_defects,_folate-sensitive	.	0.98712	0.93291	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
100	292223	1	11850365	T	G	276753	Likely_benign	Neural_tube_defects,_folate-sensitive	.	.	0.6284	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
101	167306	1	11854457	G	A	177842	Benign	Neural_tube_defects,_folate-sensitive|not_spec...	0.89051	0.96966	0.90296	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
102	3521	1	11854476	T	G	18560	Conflicting_interpretations_of_pathogenicity,_...	Schizophrenia,_susceptibility_to|Gastrointesti...	0.25957	0.295	0.2494	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
103	3520	1	11856378	G	A	18559	drug_response	Venous_thrombosis|Neoplasm_of_stomach|Gastroin...	0.27057	0.30367	0.24541	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
104	683180	1	12052405	G	A	657052	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
105	439571	1	15769139	G	A	432974	Benign	not_specified	.	.	0.18291	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
106	439565	1	15770101	C	A	432977	Benign	Hereditary_pancreatitis	0.22882	.	0.17133	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
107	439563	1	15772057	G	T	432983	Benign	Hereditary_pancreatitis	0.37075	.	0.35763	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
108	585697	1	16351275	A	G	576424	Benign	Bartter_syndrome,_type_4b|not_provided	0.60088	0.56364	0.64297	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
109	585696	1	16358932	T	C	576425	Benign	not_provided	0.69522	0.68822	0.749	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
110	447107	1	16371067	G	T	440382	Benign	not_specified|not_provided	0.5263	.	0.55551	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
111	447104	1	16373124	A	G	440387	Benign	not_specified|not_provided	0.67215	0.80223	0.74042	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
112	447105	1	16374533	G	C	440388	Benign	not_specified|not_provided	0.87844	0.92984	0.89397	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
113	381050	1	16374994	C	T	364523	Benign/Likely_benign	not_specified|not_provided	.	0.8008	0.73862	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
114	789426	1	16375063	CA	GC	706794	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
115	447108	1	16376191	C	T	440389	Benign	not_specified|not_provided	.	0.90963	0.82987	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
116	377683	1	16376319	T	C	364524	Benign	not_specified|not_provided	0.81509	0.91135	0.83007	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
117	504914	1	16377108	G	C	496594	Benign	not_specified	0.18092	0.23137	0.16254	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
118	447094	1	16380196	T	C	440394	Benign	not_specified	0.88825	0.93101	0.83826	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
119	447096	1	16380243	A	G	440395	Benign	not_specified|not_provided	0.70083	0.65857	0.70168	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
120	447097	1	16380252	C	T	440396	Benign	not_specified|not_provided	0.61133	0.62103	0.61362	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
121	293400	1	16451413	C	T	278005	Benign	Age-related_cortical_cataract	.	.	0.90575	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
122	767658	1	17250836	A	G	696246	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
123	772652	1	17272037	G	A	696248	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
124	128475	1	17312743	C	T	133924	Benign	Parkinson_disease_9|History_of_neurodevelopmen...	0.42132	0.50653	0.33127	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
125	559000	1	17313157	G	A	549503	Benign	not_provided	0.42318	0.49582	0.34685	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
126	128473	1	17313343	G	A	133922	Benign	Parkinson_disease_9|History_of_neurodevelopmen...	0.41642	0.46479	0.33846	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
127	128470	1	17313654	C	T	133919	Benign	Parkinson_disease_9|History_of_neurodevelopmen...	0.42556	0.46386	0.34625	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
128	128466	1	17314942	G	A	133915	Benign	Parkinson_disease_9|History_of_neurodevelopmen...	0.41542	0.45895	0.33866	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
129	128465	1	17319011	G	A	133914	Benign	Parkinson_disease_9|History_of_neurodevelopmen...	0.56928	0.55397	0.44848	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
130	703790	1	17328301	T	C	695018	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
131	258889	1	17359676	C	A	249532	Benign	not_specified	0.95233	0.97189	0.95907	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
132	44641	1	17380497	G	T	53808	Benign	Pheochromocytoma|Hereditary_cancer-predisposin...	0.95147	.	0.95707	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
133	590790	1	17662639	T	C	581729	association	Rheumatoid_arthritis	0.53975	0.56192	0.51518	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
134	294367	1	19201928	C	T	279073	Likely_benign	Hyperprolinemia	0.11203	0.10439	0.04792	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
135	294382	1	19203997	C	G	278123	Benign	Hyperprolinemia	0.71154	0.70717	0.64157	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
136	262027	1	20964328	A	G	249677	Benign	not_specified|Parkinson_Disease,_Recessive|not...	0.84338	0.86228	0.82189	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
137	262028	1	20972048	G	A	249678	Benign	not_specified|Parkinson_Disease,_Recessive|not...	0.84423	0.86276	0.82069	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
138	295004	1	20972111	G	A	278643	Benign/Likely_benign	Parkinson_disease_6,_autosomal_recessive_early...	0.03744	0.09211	0.1228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
139	295006	1	20977000	A	C	279809	Benign/Likely_benign	Congenital_disorder_of_glycosylation|Parkinson...	0.27003	0.29739	0.30052	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
140	295011	1	20977221	A	T	278644	Benign	Congenital_disorder_of_glycosylation|Parkinson...	0.85335	0.86389	0.83447	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
141	295013	1	20977365	C	G	278645	Benign	Congenital_disorder_of_glycosylation|Parkinson...	.	.	0.83666	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
142	295014	1	20977380	T	C	278656	Likely_benign	Congenital_disorder_of_glycosylation|Parkinson...	.	.	0.30012	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
143	295021	1	20977710	C	CAGTA	278548	Uncertain_significance	Parkinson_Disease,_Recessive	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
144	295024	1	20977748	T	G	279966	Likely_benign	Congenital_disorder_of_glycosylation|Parkinson...	.	.	0.29992	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
145	295030	1	20977856	T	C	279967	Likely_benign	Congenital_disorder_of_glycosylation|Parkinson...	.	.	0.30272	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
146	295031	1	20977907	A	AAGAG	278679	Likely_benign	Congenital_disorder_of_glycosylation|Parkinson...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
147	295057	1	20978832	T	C	279865	Benign	Congenital_disorder_of_glycosylation|Parkinson...	0.84402	.	0.82488	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
148	258081	1	21571601	G	A	249711	Benign	not_specified	0.20798	0.24052	0.16014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
149	258080	1	21573722	G	A	249712	Benign	not_specified	0.19699	0.22041	0.14677	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
150	197678	1	21889635	T	C	194839	Benign	not_specified	0.92173	0.94498	0.92951	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
151	295558	1	21904206	C	T	279050	Benign	Hypophosphatasia	.	.	0.33666	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
152	295561	1	21904267	A	G	278910	Benign	Hypophosphatasia	.	.	0.86821	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
153	295563	1	21904374	A	C	278914	Benign	Hypophosphatasia	.	.	0.16454	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
154	295571	1	21904826	A	AT	278920	Likely_benign	Hypophosphatasia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
155	295685	1	22149183	G	C	280433	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	.	.	0.31989	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
156	295695	1	22149935	T	C	280437	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.79233	.	0.78035	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
157	295700	1	22150120	C	T	280442	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.14593	0.18487	0.17612	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
158	295701	1	22150160	G	T	278997	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.12956	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
159	295707	1	22154845	A	G	279137	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.25235	0.29821	0.25719	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
160	439796	1	22155723	T	C	433613	Benign	not_specified	.	.	0.76338	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
161	618168	1	22155841	T	C	609379	Benign	not_specified	0.13063	0.18207	0.15635	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
162	618169	1	22155853	C	T	609380	Benign	not_specified	0.14532	0.18471	0.17153	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
163	295723	1	22159008	C	A	280489	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.13248	.	0.15775	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
164	295729	1	22160111	C	T	280462	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.13294	0.17575	0.16414	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
165	295733	1	22161275	G	A	279065	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.13325	0.17476	0.15955	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
166	295750	1	22165901	A	G	280514	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.34992	0.28757	0.34605	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
167	295753	1	22165987	G	A	279250	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.12464	0.1728	0.15216	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
168	295787	1	22174600	A	G	280605	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.78387	0.81156	0.76198	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
169	291236	1	22191454	G	A	275473	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.69914	0.74631	0.69149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
170	285755	1	22199245	C	T	269992	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.52469	0.60665	0.42492	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
171	295864	1	22202109	C	T	279443	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.94087	0.98374	0.94229	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
172	295881	1	22206649	T	C	280764	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.93518	.	0.92991	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
173	295882	1	22206942	G	A	280765	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.93518	0.98118	0.92991	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
174	295887	1	22207235	T	C	279454	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.97566	0.99312	0.97364	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
175	439797	1	22208030	C	T	433614	Benign	not_specified	0.92688	0.96877	0.92592	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
176	295910	1	22216574	C	A	280779	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.55029	0.57694	0.44449	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
177	295912	1	22216604	C	G	280780	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.55036	.	0.44449	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
178	295913	1	22217108	G	A	280781	Benign	Dyssegmental_Dysplasia|Schwartz_Jampel_syndrom...	0.95379	0.98608	0.94808	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
179	138926	1	24018277	C	G	142629	Benign	Diamond-Blackfan_anemia	0.98385	0.99463	0.97684	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
180	92889	1	24122986	C	T	98796	Benign	UDPglucose-4-epimerase_deficiency|not_specified	0.53492	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
181	296841	1	24128467	C	T	281738	Benign	Deficiency_of_hydroxymethylglutaryl-CoA_lyase|...	.	.	0.88339	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
182	684182	1	24134462	C	T	657772	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
183	92602	1	24134721	T	C	98510	Benign	Deficiency_of_hydroxymethylglutaryl-CoA_lyase|...	0.92627	0.9042	0.88738	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
184	673763	1	24141011	C	T	657752	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
185	255488	1	24143932	A	G	249839	Benign	not_specified	0.9265	0.90528	0.88778	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
186	683937	1	24180613	C	G	657778	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
187	683932	1	24180623	T	C	657780	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
188	691	1	24180962	T	C	15730	Benign	FU1/FU2_POLYMORPHISM|Fucosidosis|not_provided	.	0.27912	0.21126	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
189	683990	1	24181177	C	T	657784	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
190	683986	1	24191720	A	G	657770	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
191	683925	1	24192200	A	G	657786	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
192	296993	1	25893927	AT	A	280237	Benign	Familial_hypercholesterolemia_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
193	297006	1	25894468	C	CTG	281950	Benign	Familial_hypercholesterolemia_1	.	.	0.90336	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
194	297011	1	25894853	G	T	282036	Benign	Familial_hypercholesterolemia_1	.	.	0.57109	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
195	297021	1	25895238	C	T	280262	Benign	Familial_hypercholesterolemia_1	.	.	0.56929	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
196	680991	1	26126375	A	G	657812	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
197	669827	1	26127425	G	A	657800	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
198	669828	1	26128307	C	T	657807	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
199	95963	1	26131654	G	A	101859	Benign	Eichsfeld_type_congenital_muscular_dystrophy|n...	.	0.81443	0.84185	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
200	680776	1	26135913	T	C	657744	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
201	669830	1	26136452	A	C	657813	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
202	261271	1	26138136	C	A	249869	Benign	not_specified|not_provided	0.6848	0.78613	0.74701	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
203	95956	1	26138262	T	C	101852	Benign	Eichsfeld_type_congenital_muscular_dystrophy|n...	0.73717	0.81325	0.79193	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
204	669832	1	26138451	A	G	657821	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
205	261274	1	26139137	C	T	249873	Benign	not_specified|not_provided	0.63714	0.79443	0.69768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
206	669834	1	26139392	A	G	657829	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
207	669835	1	26139444	G	A	657815	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
208	95959	1	26140573	C	A	101855	Benign	Eichsfeld_type_congenital_muscular_dystrophy|n...	0.63195	0.77473	0.69748	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
209	669836	1	26141803	G	T	657819	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
210	297050	1	26143821	T	C	282081	Benign	SEPN1-Related_Disorders	.	.	0.76298	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
211	297053	1	26143931	T	C	280308	Benign	SEPN1-Related_Disorders	.	.	0.86222	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
212	297061	1	26144437	TC	T	280694	Uncertain_significance	SEPN1-Related_Disorders	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
213	297106	1	26797654	C	T	282168	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.09964	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
214	635265	1	29145188	C	T	623097	drug_response	buprenorphine_response_-_Efficacy	.	.	0.45907	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
215	297151	1	33245802	C	G	282106	Benign	Charcot-Marie-Tooth_disease,_dominant_intermed...	0.0988	0.09819	0.08746	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
216	670891	1	33247797	G	T	657853	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
217	670337	1	33251739	T	C	657748	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
218	670336	1	33252887	T	C	657861	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
219	670889	1	33256645	G	C	657834	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
220	670888	1	33256884	C	A	657841	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
221	670335	1	33276424	G	A	657749	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
222	297163	1	33282775	C	A	280382	Benign	not_specified|Charcot-Marie-Tooth,_Intermediate	0.0968	0.0976	0.08566	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
223	297175	1	33283528	G	A	280750	Benign	Charcot-Marie-Tooth,_Intermediate|not_provided	.	.	0.0603	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
224	297196	1	35251229	G	A	280761	Benign	Erythrokeratodermia_variabilis_et_progressiva_...	.	.	0.40395	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
225	297204	1	35251545	G	C	282177	Benign	Erythrokeratodermia_variabilis_et_progressiva_...	.	.	0.25819	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
226	297210	1	35251735	G	C	282201	Benign	Erythrokeratodermia_variabilis_et_progressiva_...	.	.	0.21286	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
227	256790	1	36937059	A	G	249885	Benign	not_specified	0.60857	0.56481	0.59245	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
228	256789	1	36937065	A	G	249886	Benign	not_specified	0.29971	0.31561	0.24641	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
229	434837	1	36939403	C	G	427809	Benign/Likely_benign	not_specified|not_provided	0.00346	0.00299	0.0012	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
230	684263	1	40319375	C	T	656850	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
231	684262	1	40319379	T	C	656853	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
232	297230	1	40539076	C	T	280445	Benign	Neuronal_Ceroid-Lipofuscinosis,_Recessive	.	.	0.66733	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
233	297233	1	40539203	A	ATGAT	280826	Benign	Neuronal_Ceroid-Lipofuscinosis,_Recessive	.	.	0.61402	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
234	297234	1	40539228	G	C	282406	Benign	Neuronal_Ceroid-Lipofuscinosis,_Recessive	.	.	0.66074	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
235	297240	1	40539448	A	C	282423	Benign	Neuronal_Ceroid-Lipofuscinosis,_Recessive	.	.	0.66114	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
236	668044	1	40555321	C	T	657872	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
237	670733	1	40557656	G	A	657899	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
238	668040	1	40558345	T	A	657789	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
239	684006	1	40558459	G	GGCATGTGAAAA	657790	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
240	684001	1	40558511	A	G	657791	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
241	297250	1	40562993	T	C	280858	Benign	Neuronal_Ceroid-Lipofuscinosis,_Recessive	.	.	0.83267	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
242	140502	1	40722795	G	A	150180	not_provided	not_provided	.	.	0.21805	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
243	140525	1	40733658	A	G	150203	not_provided	not_provided	.	.	0.22264	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
244	140535	1	40737516	T	G	150213	Benign	not_specified|not_provided	0.98985	0.98587	0.99321	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
245	140538	1	40741899	C	T	150216	not_provided	not_provided	.	.	0.91354	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
246	258399	1	40773149	T	C	249913	Benign	Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp...	0.2781	0.30335	0.39736	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
247	683426	1	40774194	A	C	657914	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
248	258392	1	40776752	C	A	249920	Benign	Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp...	0.12271	.	0.17812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
249	258387	1	40777800	T	G	249924	Benign	not_specified	0.27227	.	0.40156	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
250	258385	1	40778377	C	T	249927	Benign	not_specified	0.23773	.	0.3744	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
251	668734	1	40781613	T	C	657886	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
252	45104	1	41284366	G	C	54271	Benign	DFNA_2_Nonsyndromic_Hearing_Loss|not_specified	0.6917	0.67575	0.56749	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
253	45105	1	41285087	T	C	54272	Benign	DFNA_2_Nonsyndromic_Hearing_Loss|not_specified	0.6763	0.65118	0.5633	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
254	402571	1	41466803	G	A	389436	Benign	not_specified	0.33323	0.4048	0.33307	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
255	402941	1	41976328	T	C	389395	Benign	not_specified	0.96907	0.98898	0.96306	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
256	402943	1	41979156	A	G	389444	Benign	not_specified	0.62167	0.66873	0.73443	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
257	402944	1	42046613	G	T	389407	Benign	not_specified	0.18845	.	0.12121	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
258	402945	1	42046812	C	T	389445	Benign	not_specified	0.97893	0.99344	0.97724	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
259	402946	1	42049032	G	A	389449	Benign	not_specified	0.95494	0.98681	0.94928	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
260	402947	1	42049140	C	G	389454	Benign	not_specified	0.95502	0.98685	0.94928	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
261	297335	1	43200526	T	C	280544	Benign	Renal_Hypomagnesemia,_Recessive	.	.	0.60683	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
262	194558	1	43212431	A	G	191721	Likely_benign	not_specified	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
263	674901	1	43213499	C	T	657889	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
264	667664	1	43213610	T	C	657900	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
265	667663	1	43215571	A	G	657995	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
266	667661	1	43227867	G	A	657824	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
267	674899	1	43228189	T	A	657940	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
268	674898	1	43232807	C	G	657944	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
269	297374	1	43392250	C	G	282346	Benign	Dystonia|Glucose_transporter_type_1_deficiency...	.	.	0.38339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
270	95414	1	43395635	C	T	101313	Benign	Dystonia|Glucose_transporter_type_1_deficiency...	0.15116	.	0.11961	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
271	95411	1	43396414	G	A	101310	Benign	Dystonia|Glucose_transporter_type_1_deficiency...	0.16392	0.19022	0.14137	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
272	670109	1	43409179	G	T	657948	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
273	668836	1	43424051	A	G	657832	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
274	297395	1	43424812	C	G	282361	Benign	Dystonia|Glucose_transporter_type_1_deficiency...	.	.	0.14217	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
275	259760	1	43812075	G	A	249934	Benign	not_specified	0.32908	0.3032	0.20967	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
276	260613	1	43886494	C	T	249939	Benign	Seizures|not_specified|not_provided	0.33886	0.31911	0.19808	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
277	260619	1	43901011	A	C	249945	Benign	not_specified	0.31409	0.32003	0.19888	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
278	260620	1	43903589	G	T	249946	Benign	not_specified	0.33577	.	0.21186	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
279	260623	1	43906896	A	G	249949	Benign	Seizures|not_specified|not_provided	0.31839	0.31835	0.19629	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
280	260626	1	43909265	T	C	249952	Benign	Seizures|not_specified|not_provided	0.33116	0.33096	0.22105	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
281	262909	1	44386615	A	G	249955	Benign	not_specified	0.85043	0.88129	0.80911	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
282	262910	1	44395786	C	T	249956	Benign	not_specified	0.59588	0.66838	0.51877	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
283	415448	1	45292173	G	A	391273	Benign	Gorlin_syndrome	0.01607	0.04404	0.0629	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
284	239554	1	45294693	C	T	238304	Benign	not_provided	0.00123	0.00358	0.0006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
285	261222	1	45362992	T	C	249960	Benign	not_specified	0.66108	0.65886	0.79113	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
286	95947	1	45444038	G	A	101843	Benign	Leukoencephalopathy_with_vanishing_white_matte...	0.2841	0.25876	0.29653	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
287	297453	1	45452227	G	C	281149	Benign	Leukoencephalopathy_with_vanishing_white_matter	.	.	0.48063	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
288	439920	1	45796269	G	C	432989	Benign	not_specified	0.92625	0.92446	0.9353	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
289	257529	1	45798555	T	C	249965	Benign	not_specified	0.93026	0.92551	0.9371	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
290	297505	1	45975300	G	A	280720	Likely_benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.11841	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
291	167524	1	46655158	T	C	177974	Benign	Muscle_eye_brain_disease|not_specified	0.94126	0.98384	0.94249	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
292	130004	1	46658217	C	T	135450	Benign	not_specified|not_provided	0.0123	0.00901	0.0028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
293	6724	1	46870761	C	A	21763	Benign	FAAH_POLYMORPHISM	.	0.23331	0.26158	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
294	297544	1	47716040	TAA	T	281229	Benign	Primary_Microcephaly,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
295	94095	1	47717189	A	G	99995	Benign	Primary_autosomal_recessive_microcephaly_7|not...	0.4085	0.49787	0.39337	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
296	94094	1	47726087	T	C	99994	Benign/Likely_benign	Primary_autosomal_recessive_microcephaly_7|not...	0.28264	0.24206	0.17832	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
297	670142	1	47729034	T	G	657961	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
298	160057	1	47735280	T	C	168006	Benign	not_specified|not_provided	0.40872	.	0.39437	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
299	673949	1	47753405	G	A	657936	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
300	670465	1	47765490	T	C	657937	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
301	670581	1	47767141	C	A	657855	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
302	21354	1	47767914	G	A	34206	Benign	Primary_autosomal_recessive_microcephaly_7|not...	0.59311	0.50345	0.60643	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
303	670580	1	47770441	A	C	657963	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
304	670141	1	47770786	T	A	657859	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
305	193357	1	47882497	C	T	190521	Benign	not_specified	0.31318	0.35095	0.27855	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
306	559025	1	53453683	C	T	549525	Benign	not_provided	0.31006	0.22198	0.40216	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
307	559026	1	53453714	G	T	549526	Benign	not_provided	0.17438	0.0872	0.19149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
308	683619	1	53666108	T	C	657968	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
309	680257	1	53675532	T	C	657867	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
310	92429	1	53676448	G	A	39074	Benign	Carnitine_palmitoyltransferase_II_deficiency|n...	0.45641	0.48413	0.41314	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
311	460427	1	53679096	T	C	448240	Conflicting_interpretations_of_pathogenicity	not_provided	0.00331	0.00235	0.0004	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
312	368876	1	53679878	T	C	353105	Benign	Carnitine_palmitoyltransferase_II_deficiency	.	.	0.22824	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
313	6996	1	53712727	C	T	22035	risk_factor	Myocardial_infarction_1	.	0.29529	0.14437	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
314	735250	1	53727885	G	A	743758	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
315	297612	1	55315351	T	C	281322	Benign	Desmosterolosis	.	.	0.9998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
316	297621	1	55315941	G	T	282895	Likely_benign	Desmosterolosis	.	.	0.01018	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
317	297623	1	55316082	A	C	282901	Benign	Desmosterolosis	.	.	0.98323	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
318	297654	1	55319902	A	G	281388	Benign	Desmosterolosis	0.66615	0.66506	0.6276	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
319	297656	1	55330966	T	C	282617	Benign	Desmosterolosis	0.98793	0.99684	0.98862	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
320	297673	1	55464743	T	C	280880	Benign	Bartter_syndrome	.	.	0.59405	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
321	297674	1	55464790	C	G	281402	Benign	Bartter_syndrome	.	.	0.59505	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
322	46553	1	55474262	G	A	55718	Benign/Likely_benign	Bartter_syndrome|Bartter_syndrome_type_4|not_s...	0.19968	0.15861	0.11601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
323	297681	1	55474325	A	C	282935	Benign	Bartter_syndrome	0.44649	.	0.36242	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
324	368877	1	55474476	C	G	353106	Benign	Bartter_syndrome	.	.	0.42991	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
325	440703	1	55504650	G	A	434132	Benign	Familial_hypercholesterolemia_1	.	.	0.60144	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
326	36666	1	55505447	C	T	45327	Benign/Likely_benign	Familial_hypercholesterolemia_1|Familial_hypob...	.	.	0.09385	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
327	36669	1	55505668	C	T	45330	Benign/Likely_benign	Familial_hypercholesterolemia_1|Familial_hypob...	0.09582	.	0.09125	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
328	262904	1	55505732	A	G	249984	Benign/Likely_benign	Familial_hypercholesterolemia_1|Familial_hypob...	0.91164	0.93699	0.90855	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
329	440710	1	55505926	C	T	434139	Benign	Familial_hypercholesterolemia_1	.	.	0.09345	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
330	265925	1	55518166	G	A	260601	Benign	Familial_hypercholesterolemia_1	.	.	0.54932	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
331	265928	1	55518190	AC	A	260605	Uncertain_significance	Familial_hypercholesterolemia_1	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
332	265929	1	55518198	C	A	260604	Benign	Familial_hypercholesterolemia_1	.	.	0.13858	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
333	262908	1	55518467	A	G	249988	Benign/Likely_benign	Familial_hypercholesterolemia_1|Familial_hypob...	0.50415	0.43115	0.46625	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
334	262899	1	55523033	A	G	249989	Conflicting_interpretations_of_pathogenicity	Familial_hypercholesterolemia_1|Familial_hypob...	0.9797	0.99454	0.98183	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
335	265943	1	55524116	C	T	260619	Benign	Familial_hypercholesterolemia_1	.	.	0.86921	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
336	201126	1	55524197	A	G	196755	Benign/Likely_benign	Familial_hypercholesterolemia_1|Familial_hypob...	0.81778	0.8544	0.86921	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
337	201124	1	55524237	G	A	196757	Benign/Likely_benign	Familial_hypercholesterolemia_1|Familial_hypob...	0.81778	0.85444	0.86901	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
338	36670	1	55529187	G	A	45331	Benign/Likely_benign	Familial_hypercholesterolemia_1|Familial_hypob...	0.88944	0.94328	0.89896	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
339	770847	1	55643658	T	C	696804	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
340	17039	1	57340727	C	A	32078	Benign	COMPLEMENT_COMPONENT_8,_ALPHA_SUBUNIT,_A/B_POL...	0.32093	0.36838	0.34365	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
341	297752	1	59041220	C	T	282697	Benign	Corneal_Dystrophy,_Dominant/Recessive	.	.	0.25699	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
342	297754	1	59041436	T	C	282703	Likely_benign	Corneal_Dystrophy,_Dominant/Recessive	.	.	0.10463	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
343	297756	1	59041577	A	G	281504	Benign	Corneal_Dystrophy,_Dominant/Recessive	.	.	0.41294	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
344	297763	1	59041809	C	T	282981	Likely_benign	Corneal_Dystrophy,_Dominant/Recessive	0.085	.	0.05391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
345	297769	1	59042311	T	G	280967	Likely_benign	Corneal_Dystrophy,_Dominant/Recessive	0.1225	0.09721	0.10403	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
346	297778	1	59042997	C	T	282741	Likely_benign	Corneal_Dystrophy,_Dominant/Recessive	.	.	0.10403	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
347	770850	1	61872228	C	T	777132	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
348	585796	1	62976259	C	T	576551	Likely_benign	not_provided	0.00015	0.00032	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
349	95531	1	63881552	C	T	101430	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.737	0.75143	0.83047	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
350	297858	1	63903452	T	C	280998	Benign	Congenital_disorder_of_glycosylation	.	.	0.6847	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
351	676174	1	64059644	C	G	657878	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
352	297871	1	64095111	A	G	282807	Benign/Likely_benign	Congenital_disorder_of_glycosylation|Congenita...	0.17446	0.13043	0.12979	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
353	676177	1	64095862	G	A	657978	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
354	297874	1	64097432	C	T	283126	Benign/Likely_benign	Congenital_disorder_of_glycosylation|Congenita...	0.22313	0.2428	0.24141	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
355	558803	1	64100478	A	T	549534	Benign	not_provided	0.4235	0.41411	0.5002	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
356	676178	1	64102114	A	G	657879	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
357	474681	1	65849887	G	A	448350	Benign	Parkinson_disease_19a,_juvenile-onset	0.01876	0.02145	0.01138	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
358	297982	1	65886398	T	C	282919	Benign	Leptin_receptor_deficiency|Monogenic_Non-Syndr...	0.44184	0.55154	0.56789	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
359	487357	1	66036501	G	T	480430	Benign	Leptin_receptor_deficiency	0.99946	0.99991	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
360	298000	1	66102257	G	A	282947	Benign	Leptin_receptor_deficiency|not_specified|Monog...	0.4075	0.45262	0.52975	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
361	298008	1	66103042	AAC	A	281762	Benign	Leptin_receptor_deficiency|Monogenic_Non-Syndr...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
362	298009	1	66103101	T	C	281763	Uncertain_significance	Leptin_receptor_deficiency|Monogenic_Non-Syndr...	.	.	0.0016	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
363	298027	1	70876959	A	T	281783	Likely_benign	Cystathioninuria	.	.	0.03235	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
364	676188	1	76190569	C	G	658055	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
365	254691	1	76194054	C	G	250014	Benign	not_specified	0.2535	0.25061	0.18291	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
366	226050	1	76194229	GT	G	227862	Benign	Medium-chain_acyl-coenzyme_A_dehydrogenase_def...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
367	92259	1	76198436	T	C	98170	Benign/Likely_benign	Medium-chain_acyl-coenzyme_A_dehydrogenase_def...	0.3176	0.27404	0.23123	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
368	676189	1	76198785	G	A	658062	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
369	254689	1	76199345	C	G	250015	Benign	not_specified	0.31739	0.27366	0.23103	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
370	254690	1	76205643	C	A	250016	Benign	not_specified	0.25894	0.28608	0.1901	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
371	92254	1	76227022	A	G	98165	Benign/Likely_benign	Medium-chain_acyl-coenzyme_A_dehydrogenase_def...	0.24996	0.23335	0.17432	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
372	298078	1	76229120	T	C	281831	Likely_benign	Medium-chain_acyl-coenzyme_A_dehydrogenase_def...	.	.	0.09824	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
373	298081	1	76229326	T	C	281218	Benign	Medium-chain_acyl-coenzyme_A_dehydrogenase_def...	.	.	0.69169	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
374	402356	1	77763542	G	A	389423	Benign	not_specified	0.98393	0.99553	0.97883	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
375	402357	1	77883412	C	T	389425	Benign	not_specified	0.12937	0.13826	0.1254	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
376	402358	1	78024284	T	C	389472	Benign	not_specified	0.71682	0.74619	0.6853	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
377	402359	1	78024345	C	CTAT	390495	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
378	671176	1	78383467	G	A	658068	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
379	683664	1	78392867	C	T	658080	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
380	298100	1	78408922	CA	C	281853	Uncertain_significance	Hypertrophic_cardiomyopathy|Dilated_Cardiomyop...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
381	225991	1	78956432	T	C	227744	drug_response	latanoprost_response_-_Efficacy	.	.	0.78235	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
382	722691	1	85462511	C	T	732625	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
383	298125	1	92711972	C	G	281871	Benign	Glomuvenous_malformations	.	.	0.61601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
384	298167	1	92940850	G	T	281285	Benign	Severe_congenital_neutropenia	.	.	0.15815	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
385	298175	1	92941357	A	G	283194	Benign	Severe_congenital_neutropenia	.	.	0.80831	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
386	259698	1	92944188	G	A	250019	Benign/Likely_benign	Severe_congenital_neutropenia|Severe_congenita...	0.01453	0.01357	0.00539	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
387	211078	1	92946479	G	A	206837	Benign	Severe_congenital_neutropenia|not_specified	0.85188	0.88834	0.91893	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
388	402836	1	92979354	A	G	389473	Benign	not_specified	0.83838	0.85197	0.92033	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
389	402838	1	93089823	T	C	389434	Benign	not_specified	0.91319	0.92158	0.94908	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
390	402839	1	93160902	T	C	389440	Benign	not_specified	0.91296	0.92158	0.95028	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
391	298213	1	93306317	G	A	283380	Benign	Diamond-Blackfan_anemia	0.56906	0.677	0.69189	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
392	136235	1	94471075	A	G	139938	Benign	Macular_degeneration|not_specified|Cone-Rod_Dy...	0.77572	0.88938	0.76997	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
393	678762	1	94474020	G	A	658099	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
394	99396	1	94476388	C	G	105285	Benign/Likely_benign	Macular_degeneration|not_specified|Cone-Rod_Dy...	0.24927	0.21967	0.20068	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
395	99390	1	94476467	T	A	105279	Conflicting_interpretations_of_pathogenicity	Macular_degeneration|Stargardt_disease_1|Starg...	0.04775	0.04456	0.02077	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
396	99389	1	94476555	G	A	105278	not_provided	not_provided	.	.	0.69149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
397	680456	1	94477232	T	G	658070	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
398	678761	1	94480439	T	C	657925	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
399	680455	1	94480529	A	C	657991	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
400	255923	1	94487285	AAC	A	250031	Benign	Macular_degeneration|not_specified|Cone-Rod_Dy...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
401	678759	1	94495816	T	C	658078	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
402	678756	1	94509226	G	T	657938	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
403	680452	1	94525623	A	G	658079	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
404	99079	1	94528363	C	T	104968	not_provided	not_provided	.	.	0.3736	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
405	193579	1	94544135	A	AC	190742	Benign	Macular_degeneration|not_specified|Cone-Rod_Dy...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
406	99037	1	94544276	G	A	104927	Benign	Macular_degeneration|not_specified|Cone-Rod_Dy...	0.46548	0.48144	0.51478	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
407	680451	1	94566683	T	C	658087	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
408	166618	1	94578548	T	C	177452	Benign	not_specified	0.9877	.	0.98702	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
409	258821	1	94930345	G	A	250040	Benign	not_specified|not_provided	0.37221	0.39233	0.27995	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
410	298277	1	97544258	A	G	283459	Likely_benign	Dihydropyrimidine_dehydrogenase_deficiency	.	.	0.10683	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
411	100080	1	97770920	C	T	105957	Benign/Likely_benign	Dihydropyrimidine_dehydrogenase_deficiency|not...	0.04137	0.04647	0.04393	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
412	100086	1	97847874	T	C	105963	not_provided	not_provided	.	.	0.22664	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
413	100092	1	97981395	T	C	105969	Benign/Likely_benign	Dihydropyrimidine_dehydrogenase_deficiency|not...	0.18361	0.19296	0.1849	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
414	100103	1	98039541	A	G	105980	Benign/Likely_benign	Dihydropyrimidine_dehydrogenase_deficiency|not...	0.09482	0.10458	0.0637	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
415	100105	1	98060481	A	C	105982	not_provided	not_provided	.	.	0.10923	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
416	100123	1	98348885	G	A	106000	Benign	Dihydropyrimidine_dehydrogenase_deficiency|not...	.	0.76517	0.73982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
417	676091	1	100316765	C	T	658089	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
418	256750	1	100327026	C	T	250042	Benign	not_specified	0.24181	0.19623	0.22724	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
419	682710	1	100328272	G	A	657959	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
420	676092	1	100329889	G	C	658003	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
421	676094	1	100330237	A	G	658006	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
422	677943	1	100330295	T	C	657960	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
423	679283	1	100335788	A	G	658096	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
424	198432	1	100336361	C	T	195593	Benign	Glycogen_storage_disease_type_III|not_specifie...	0.76711	0.72141	0.76258	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
425	256751	1	100340225	G	A	250046	Benign	not_specified|not_provided	0.74831	0.73142	0.74341	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
426	680037	1	100347463	C	A	658117	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
427	256730	1	100353675	G	A	250058	Benign	Glycogen_storage_disease_type_III|not_specifie...	0.65485	0.68976	0.68111	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
428	256734	1	100358103	C	T	250062	Benign/Likely_benign	Glycogen_storage_disease_type_III|not_specifie...	0.13947	0.13613	0.11062	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
429	256735	1	100358200	G	A	250063	Benign	not_specified|not_provided	0.65495	0.6912	0.68151	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
430	682727	1	100358451	G	A	658121	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
431	680038	1	100362180	G	A	658125	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
432	680039	1	100377789	C	T	658124	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
433	291359	1	100387939	C	T	283552	Benign	Glycogen_storage_disease_type_III	.	.	0.59045	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
434	291395	1	100655583	T	A	275557	Benign	Maple_syrup_urine_disease	.	.	0.76677	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
435	291396	1	100655695	TAA	T	275589	Uncertain_significance	Maple_syrup_urine_disease	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
436	291404	1	100656265	C	T	275613	Benign	Maple_syrup_urine_disease	.	.	0.80072	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
437	291407	1	100656661	T	C	275571	Benign	Maple_syrup_urine_disease	.	.	0.76957	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
438	291424	1	100658578	G	A	275625	Benign	Maple_syrup_urine_disease	.	.	0.76957	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
439	128885	1	100672060	T	C	134332	Benign	Maple_syrup_urine_disease|not_specified	.	0.91377	0.89177	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
440	681221	1	100673032	A	G	656866	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
441	681220	1	100683906	G	T	656835	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
442	681219	1	100695989	A	C	656873	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
443	776339	1	100740485	T	C	695917	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
444	682965	1	100819273	T	C	656814	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
445	291477	1	103342392	T	C	275622	Benign	Marshall_syndrome|Fibrochondrogenesis_1|Stickl...	.	.	0.22444	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
446	681209	1	103345744	C	G	656841	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
447	681208	1	103348460	A	T	656816	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
448	681207	1	103352076	C	T	656844	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
449	258470	1	103352451	A	G	249270	Benign	Marshall_syndrome|Fibrochondrogenesis_1|not_sp...	0.44841	0.58015	0.48463	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
450	258467	1	103354115	T	C	249273	Benign	not_specified	0.1284	0.13542	0.17352	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
451	17137	1	103354138	A	G	32176	Benign	Marshall_syndrome|Lumbar_disc_herniation,_susc...	0.80701	0.79416	0.78295	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
452	258466	1	103354428	A	G	249274	Benign	Marshall_syndrome|Fibrochondrogenesis_1|not_sp...	0.62294	0.72387	0.6226	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
453	258465	1	103356107	A	G	249275	Benign	not_specified	0.12328	.	0.17372	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
454	681203	1	103379548	A	G	656837	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
455	258461	1	103379918	G	A	249279	Benign	Marshall_syndrome|Fibrochondrogenesis_1|not_sp...	0.45172	0.59155	0.49661	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
456	516177	1	103380379	T	TA	497941	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
457	681201	1	103386485	T	C	656854	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
458	681200	1	103386807	C	T	656865	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
459	681199	1	103404323	A	G	656867	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
460	681198	1	103404936	A	T	656895	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
461	674756	1	103428389	G	A	656897	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
462	258445	1	103444679	T	G	249292	Benign	not_specified	0.55167	0.69125	0.62919	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
463	674755	1	103449598	G	C	656882	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
464	674754	1	103455217	C	T	656884	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
465	258443	1	103461508	T	A	249294	Benign	not_specified|not_provided	0.90548	0.95364	0.92392	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
466	674752	1	103463976	G	T	656887	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
467	681197	1	103464210	T	C	656893	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
468	674751	1	103467615	C	T	656896	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
469	674750	1	103483514	C	T	656903	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
470	674749	1	103496620	G	T	656905	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
471	218828	1	103496805	GA	G	215177	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
472	258450	1	103548319	C	G	249303	Benign	not_specified|not_provided	0.45625	0.5918	0.57628	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
473	674747	1	103573547	G	A	656914	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
474	681360	1	109446045	C	G	656944	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
475	681782	1	109456850	G	A	656975	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
476	683318	1	109460963	C	T	656976	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
477	226649	1	109465165	ACTT	A	228257	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
478	681784	1	109466858	G	A	656980	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
479	291711	1	109472773	G	A	276041	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	0.36821	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
480	291714	1	109473017	C	T	276043	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	0.20707	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
481	259744	1	110148974	C	T	249359	Benign	Achromatopsia|not_specified	0.33062	0.44904	0.37859	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
482	677169	1	111661413	T	C	656955	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
483	683550	1	112319388	A	G	656981	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
484	682043	1	112321322	T	C	656919	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
485	683889	1	112329296	G	A	656983	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
486	291827	1	113454571	A	G	276274	Likely_benign	Hyperinsulinism,_Dominant	.	.	0.24701	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
487	291831	1	113455099	G	A	276277	Likely_benign	Hyperinsulinism,_Dominant	.	.	0.67552	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
488	130315	1	113456546	A	T	135762	Benign/Likely_benign	not_specified|Hyperinsulinism,_Dominant	0.66623	0.59721	0.67672	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
489	260443	1	113659065	ACT	A	249366	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
490	769239	1	114372332	TA	T	777012	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
491	8910	1	114415368	G	C	23949	risk_factor	Diabetes_mellitus,_insulin-dependent,_suscepti...	.	.	0.74701	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
492	157718	1	114438951	A	G	167566	Benign	History_of_neurodevelopmental_disorder|Spastic...	0.43795	0.31864	0.377	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
493	380767	1	114447565	G	A	364302	Benign	not_specified	.	.	0.32947	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
494	291946	1	115247749	TA	T	275943	Likely_benign	Noonan_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
495	291967	1	115249843	G	A	276416	Likely_benign	Noonan_syndrome	.	.	0.15096	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
496	561821	1	115252609	G	C	552484	Benign	not_provided	.	.	0.8764	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
497	256640	1	115576023	A	G	249367	Benign	Congenital_hypothyroidism|Secondary_hypothyroi...	0.97524	0.97066	0.98363	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
498	291993	1	115829313	G	A	276307	Benign	Congenital_sensory_neuropathy_with_selective_l...	0.36914	0.36557	0.2474	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
499	667672	1	115881055	G	A	656988	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
500	292005	1	116206423	G	A	276198	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	0.1241	0.1421	0.11502	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
501	292017	1	116234217	C	T	276462	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	.	.	0.06669	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
502	292018	1	116234300	C	T	276201	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	.	.	0.06669	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
503	292020	1	116234313	A	G	276202	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	.	.	0.73942	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
504	292025	1	116234505	A	G	276336	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	.	.	0.73942	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
505	292027	1	116234694	C	A	276337	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	.	.	0.0653	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
506	292052	1	116236351	T	G	276395	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	.	.	0.44209	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
507	292054	1	116236489	C	T	276234	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	.	.	0.07308	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
508	292057	1	116236581	G	A	276235	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	.	.	0.10244	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
509	292066	1	116237417	C	T	276023	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	.	.	0.07328	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
510	292067	1	116237496	T	A	276398	Likely_benign	Neural_tube_defect|Caudal_dysgenesis_syndrome	.	.	0.33766	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
511	292075	1	116238478	C	T	276248	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.4401	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
512	292076	1	116238504	C	T	276408	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.17552	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
513	292084	1	116239266	C	T	276527	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.17532	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
514	292088	1	116239368	G	A	276533	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.42332	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
515	292095	1	116239751	A	G	276037	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.4375	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
516	292097	1	116239841	A	T	276256	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.42312	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
517	292101	1	116239995	A	T	276450	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.42312	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
518	292106	1	116240212	C	T	276480	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.17572	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
519	292107	1	116240321	T	G	276262	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.07228	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
520	292112	1	116240721	A	G	276263	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.10224	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
521	292113	1	116240756	T	TC	276264	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
522	292118	1	116242844	AT	A	276578	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
523	292120	1	116243230	C	G	276271	Benign/Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.71785	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
524	292122	1	116243380	G	A	276272	Benign/Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.70088	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
525	292124	1	116243724	A	G	276056	Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	.	.	0.10363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
526	44157	1	116243877	G	A	53325	Benign/Likely_benign	Neural_tube_defect|Catecholaminergic_polymorph...	0.38798	0.38379	0.42572	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
527	672186	1	116245809	C	T	656936	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
528	683295	1	116245899	T	C	656990	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
529	683294	1	116247535	G	C	656992	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
530	683293	1	116247557	C	G	656993	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
531	257653	1	116247790	G	A	249368	Benign	not_specified	0.4012	0.34862	0.42871	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
532	257652	1	116260532	A	T	249369	Benign	Ventricular_tachycardia,_catecholaminergic_pol...	0.59926	.	0.64277	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
533	672065	1	116260604	G	A	656948	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
534	671742	1	116268283	C	T	657041	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
535	683292	1	116269331	C	A	657044	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
536	44163	1	116283343	A	G	53331	Benign	Catecholaminergic_polymorphic_ventricular_tach...	0.70844	0.78717	0.64357	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
537	671741	1	116283526	G	A	656994	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
538	672064	1	116283625	A	G	657011	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
539	678455	1	116283699	A	G	656996	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
540	683291	1	116283747	T	C	657015	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
541	672063	1	116287682	T	C	657016	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
542	292299	1	120254506	A	G	276862	Benign	Phosphoglycerate_dehydrogenase_deficiency	.	.	0.69828	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
543	292300	1	120254545	G	C	276166	Benign	Phosphoglycerate_dehydrogenase_deficiency	.	.	0.81749	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
544	292306	1	120263780	T	C	276179	Likely_benign	Phosphoglycerate_dehydrogenase_deficiency	0.01438	0.00497	0.01877	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
545	292321	1	120285546	G	A	276452	Benign	Phosphoglycerate_dehydrogenase_deficiency|not_...	0.70606	0.69241	0.72224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
546	292326	1	120291471	TAAAC	T	276923	Uncertain_significance	mitochondrial_3-hydroxy-3-methylglutaryl-CoA_s...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
547	684188	1	120293748	T	G	657050	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
548	684183	1	120307515	C	G	657022	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
549	261702	1	120480583	G	A	249380	Benign	Hajdu-Cheney_syndrome|not_specified	0.07151	0.02218	0.07109	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
550	769527	1	144921924	G	A	696066	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
551	769243	1	144922523	C	T	696065	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
552	403294	1	144923728	GT	G	390579	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
553	767694	1	144923823	TAGGAAGAAACGGCA	T	776998	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
554	292441	1	147229662	G	A	276310	Likely_benign	Familial_atrial_fibrillation	.	.	0.06749	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
555	292456	1	147245383	T	C	276317	Likely_benign	Familial_atrial_fibrillation	.	.	0.1883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
556	368828	1	147245474	G	C	353057	Likely_benign	Familial_atrial_fibrillation	.	.	0.97484	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
557	368829	1	147245497	C	T	353058	Likely_benign	Familial_atrial_fibrillation	.	.	0.1883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
558	680801	1	150460168	A	G	657024	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
559	680803	1	150462811	C	T	657029	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
560	680805	1	150464603	A	G	657075	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
561	676428	1	150470322	C	A	657069	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
562	381175	1	150471157	T	A	364442	Benign	not_specified	0.02345	0.04055	0.04633	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
563	680806	1	150476516	G	A	657030	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
564	676429	1	150477061	C	T	657083	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
565	261076	1	150531008	T	C	249390	Benign	Ectopia_lentis|Ectopia_lentis_et_pupillae|not_...	0.86752	0.90669	0.8145	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
566	261077	1	150531050	G	A	249391	Benign	Ectopia_lentis|Ectopia_lentis_et_pupillae|not_...	0.84353	0.86757	0.8784	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
567	517011	1	150531170	C	T	498023	Benign	not_specified	0.91596	0.97677	0.92153	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
568	292600	1	151313774	A	G	276632	Benign	Bare_lymphocyte_syndrome_2	.	.	0.628	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
569	292605	1	151314379	T	C	276401	Benign	Bare_lymphocyte_syndrome_2	.	.	0.76438	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
570	292612	1	151315287	G	C	277245	Benign/Likely_benign	Bare_lymphocyte_syndrome_2|not_specified	0.11887	0.11875	0.0635	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
571	403373	1	151316161	G	A	389326	Benign	not_specified	0.97524	0.99335	0.97804	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
572	402868	1	152282684	G	A	389322	Benign	not_specified	0.02952	0.03066	0.01298	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
573	292625	1	154134557	A	C	277165	Benign	Nemaline_myopathy|Congenital_fiber-type_dispro...	.	.	0.32149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
574	292652	1	154136657	G	T	277319	Uncertain_significance	Nemaline_myopathy|Congenital_fiber-type_dispro...	.	.	0.0002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
575	292666	1	154138228	G	A	277341	Benign	Nemaline_myopathy|Congenital_fiber-type_dispro...	.	.	0.32009	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
576	292677	1	154139165	C	CT	277239	Benign	Nemaline_myopathy|Congenital_fiber-type_dispro...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
577	292682	1	154139381	A	C	276481	Benign	Nemaline_myopathy|Congenital_fiber-type_dispro...	.	.	0.32288	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
578	262627	1	154141908	A	G	249393	Benign	not_specified|not_provided	0.60218	0.60767	0.73223	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
579	259917	1	154245917	T	C	249399	Benign/Likely_benign	Severe_congenital_neutropenia|not_specified	0.09919	0.1136	0.07528	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
580	14660	1	154426970	A	C	29699	association	Interleukin_6,_serum_level_of,_quantitative_tr...	.	0.37562	0.29313	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
581	292713	1	154554951	A	AGGGGCATG	277338	Uncertain_significance	Symmetrical_dyschromatosis_of_extremities	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
582	292717	1	154555492	T	C	276509	Benign	Symmetrical_dyschromatosis_of_extremities	.	.	0.59804	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
583	292721	1	154555733	A	T	276511	Benign	Symmetrical_dyschromatosis_of_extremities	.	.	0.19469	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
584	292729	1	154556266	G	A	277418	Benign	Symmetrical_dyschromatosis_of_extremities	.	.	0.59784	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
585	292734	1	154556425	G	A	276770	Benign	Symmetrical_dyschromatosis_of_extremities	.	.	0.39497	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
586	292740	1	154556663	G	A	277437	Benign	Symmetrical_dyschromatosis_of_extremities	.	.	0.39617	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
587	257475	1	154557685	C	T	249407	Benign	Symmetrical_dyschromatosis_of_extremities|not_...	0.4032	0.463	0.38878	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
588	195112	1	154573967	T	C	192273	Benign	Symmetrical_dyschromatosis_of_extremities|not_...	0.60787	0.69561	0.6226	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
589	500335	1	154574820	T	C	491759	Benign	not_specified	0.99569	0.99876	0.99621	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
590	257476	1	154575040	C	T	249409	Benign	Symmetrical_dyschromatosis_of_extremities|not_...	0.99716	0.99916	0.99701	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
591	403001	1	154744807	C	G,T	389335	Benign	not_specified	0.58158	.	0.53534	1|2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
592	403002	1	154744852	A	G	389312	Benign	not_specified	0.70514	0.76157	0.77915	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
593	256871	1	155205669	G	T	249411	Benign	not_specified|not_provided	.	0.98423	0.9409	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
594	181519	1	155870416	G	A	178910	Benign	not_specified|not_provided	0.7934	0.87719	0.77975	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
595	561495	1	155873960	A	G	552490	Benign	not_provided	.	.	0.85024	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
596	227047	1	155880573	C	G	228267	Benign	not_specified|not_provided	0.79525	0.87746	0.77995	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
597	561403	1	155880952	G	A	552497	Benign	not_provided	.	.	0.35623	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
598	674310	1	156011444	T	C	655043	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
599	683622	1	156085375	T	C	657048	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
600	668922	1	156095648	T	C	657087	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
601	683613	1	156095712	T	C	657090	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
602	672751	1	156095756	C	T	657094	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
603	672752	1	156095848	C	T	657095	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
604	672778	1	156096387	G	A	657102	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
605	672779	1	156096417	T	G	657096	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
606	672780	1	156096873	T	C	657112	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
607	672781	1	156096919	G	A	657110	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
608	192190	1	156099669	T	G	189381	Benign	Hutchinson-Gilford_syndrome|not_specified	0.18754	0.16301	0.19768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
609	668923	1	156100139	T	C	657104	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
610	672782	1	156100739	T	C	657111	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
611	683614	1	156100838	C	G	657115	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
612	672783	1	156103997	A	C	657051	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
613	48071	1	156104292	G	A	57235	Benign/Likely_benign	Cardiomyopathy|Hutchinson-Gilford_syndrome|Cha...	0.00569	0.00972	0.00799	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
614	48088	1	156105028	T	C	57252	Benign	Cardiomyopathy|Hutchinson-Gilford_syndrome|Cha...	0.19783	0.10943	0.19309	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
615	683061	1	156105337	C	T	657105	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
616	36474	1	156105928	G	A	45136	Benign/Likely_benign	Primary_dilated_cardiomyopathy|not_specified|n...	0.19752	0.10765	0.19229	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
617	48037	1	156106185	T	C	57201	Benign	Cardiomyopathy|Hutchinson-Gilford_syndrome|Cha...	0.25412	.	0.2492	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
618	672784	1	156106369	G	A	657120	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
619	66834	1	156106863	C	T	77731	Benign	not_specified|not_provided	0.1873	0.10637	0.18231	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
620	683615	1	156108019	C	T	657114	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
621	683062	1	156108048	T	C	657123	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
622	66756	1	156108976	G	C	77653	not_provided	not_provided	0.17674	.	0.1853	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
623	261576	1	156146218	C	T	249423	Benign	not_specified|Cone-Rod_Dystrophy,_Recessive|Re...	0.53176	0.52725	0.43091	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
624	3362	1	156146640	G	A	18401	Benign/Likely_benign	Retinitis_pigmentosa_35|not_specified|Cone-Rod...	0.03468	0.03541	0.02177	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
625	667736	1	156785356	T	C	657124	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
626	380853	1	156785617	G	A	364541	Benign	not_specified	0.61772	0.66741	0.63698	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
627	667767	1	156785771	A	G	657128	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
628	667768	1	156785779	G	A	657107	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
629	667738	1	156838141	T	C	657082	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
630	667741	1	156841259	A	C	657129	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
631	667743	1	156841674	G	A	657131	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
632	667763	1	156848794	C	T	657109	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
633	667764	1	156848808	T	C	657091	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
634	292891	1	156848909	CA	C	277584	Benign/Likely_benign	Hereditary_insensitivity_to_pain_with_anhidros...	0.0667	0.0625	0.08926	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
635	138564	1	156848995	C	T	142267	Benign	Hereditary_insensitivity_to_pain_with_anhidros...	0.55683	0.57236	0.33407	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
636	138565	1	156849775	T	C	142268	Benign	not_specified	0.11133	0.06409	0.1224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
637	667765	1	156850104	G	C	657121	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
638	667766	1	156850112	T	G	657130	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
639	670556	1	156851041	T	G	657097	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
640	292917	1	158580553	TA	T	277518	Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|S...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
641	292920	1	158580759	G	A	276935	Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|S...	.	.	0.50399	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
642	258958	1	158582646	T	C	249424	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.50948	0.53849	0.50479	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
643	258957	1	158584091	A	G	249425	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.50681	0.53735	0.50619	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
644	292947	1	158584103	G	GAA	276686	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
645	258955	1	158587390	C	T	249427	Conflicting_interpretations_of_pathogenicity	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.48524	.	0.49101	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
646	258943	1	158607935	T	G	249439	Conflicting_interpretations_of_pathogenicity	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.21836	0.27368	0.24561	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
647	258942	1	158612236	A	G	249440	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.59956	.	0.59405	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
648	258930	1	158618455	G	A	249450	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.20333	0.25339	0.22824	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
649	258929	1	158619728	A	C	249451	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.99397	0.99826	0.99461	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
650	258926	1	158626378	C	T	249454	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.38696	0.30927	0.42352	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
651	258922	1	158631171	A	C	249458	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.22536	.	0.24361	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
652	293028	1	158637865	GAAA	G	276726	Uncertain_significance	Elliptocytosis|Hereditary_pyropoikilocytosis|S...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
653	258917	1	158644105	T	A	249462	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.32712	0.39991	0.35423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
654	258962	1	158647495	A	T	249465	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.95805	0.98497	0.95687	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
655	258961	1	158647522	A	G	249466	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.47773	0.54491	0.45387	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
656	258959	1	158647631	T	A	249468	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.95811	0.98494	0.95687	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
657	258916	1	158655036	G	A	249471	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.97319	0.99197	0.96985	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
658	258920	1	158656281	T	C	249472	Benign/Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|n...	0.97313	0.99195	0.96985	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
659	293066	1	158656432	G	GA	277611	Likely_benign	Elliptocytosis|Hereditary_pyropoikilocytosis|S...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
660	293090	1	160009121	A	C	276775	Likely_benign	Pendred_syndrome|Seizures,_Sensorineural_Deafn...	.	.	0.48103	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
661	293091	1	160009143	G	C	277643	Benign	Pendred_syndrome|Seizures,_Sensorineural_Deafn...	.	.	0.9982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
662	293102	1	160009419	A	C	276778	Benign	Pendred_syndrome|Seizures,_Sensorineural_Deafn...	.	.	0.86282	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
663	668000	1	160085281	A	T	657100	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
664	678200	1	160085868	A	C	657103	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
665	668017	1	160085955	A	C	657133	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
666	670739	1	160090674	T	C	657139	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
667	166705	1	160090681	CCCTT	C	177497	Benign	Familial_hemiplegic_migraine|Alternating_hemip...	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
668	668975	1	160091346	G	A	657142	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
669	197163	1	160093222	C	T	194324	Benign	not_specified	0.94941	0.98491	0.94249	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
670	670740	1	160093911	T	C	657155	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
671	674717	1	160093942	G	A	657126	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
672	678076	1	160094458	A	G	657135	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
673	668018	1	160094644	A	G	657106	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
674	670755	1	160095127	T	A	657134	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
675	670756	1	160097666	G	A	657116	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
676	128477	1	160098543	G	A	133926	Benign	Familial_hemiplegic_migraine|Alternating_hemip...	0.19245	.	0.20967	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
677	671340	1	160110812	C	T	657187	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
678	293147	1	160111701	G	C	277097	Likely_benign	Familial_hemiplegic_migraine|Alternating_hemip...	.	.	0.20887	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
679	293160	1	160112138	A	G	277810	Likely_benign	Familial_hemiplegic_migraine|Alternating_hemip...	.	.	0.21246	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
680	293162	1	160112207	T	A	277121	Likely_benign	Familial_hemiplegic_migraine|Alternating_hemip...	.	.	0.21246	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
681	293175	1	160112594	CA	C	276850	Benign	Familial_hemiplegic_migraine|Alternating_hemip...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
682	293179	1	160112741	T	C	277817	Likely_benign	Familial_hemiplegic_migraine|Alternating_hemip...	.	.	0.21286	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
683	293189	1	160113371	T	A	277710	Likely_benign	Familial_hemiplegic_migraine|Alternating_hemip...	.	.	0.21785	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
684	293196	1	160247185	G	C	277712	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	0.56415	0.45228	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
685	4895	1	160807715	T	C	19934	risk_factor	Rheumatoid_arthritis	.	.	0.5615	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
686	293238	1	161136224	C	A	277167	Likely_benign	Variegate_porphyria	.	.	0.35923	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
687	293244	1	161136343	C	G	277833	Likely_benign	Variegate_porphyria	.	.	0.02177	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
688	671138	1	161178684	T	C	657138	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
689	129697	1	161182208	C	G	135143	Likely_benign	Mitochondrial_complex_I_deficiency|not_specifi...	0.06866	0.07844	0.04932	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
690	678042	1	161182484	A	G	657160	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
691	293292	1	161192316	G	A	277897	Likely_benign	Apolipoprotein_A-II_deficiency	0.08219	0.11352	0.10304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
692	197772	1	161202605	G	A	194933	Benign	not_specified	0.26987	0.35343	0.33626	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
693	293304	1	161274905	T	C	277907	Benign	Roussy-Lévy_syndrome|Charcot-Marie-Tooth_disea...	.	.	0.13638	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
694	683189	1	161276434	A	G	657140	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
695	667646	1	161279518	T	C	657151	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
696	683188	1	161279882	A	G	657168	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
697	14823	1	161479745	A	G	29862	drug_response	Lupus_nephritis,_susceptibility_to|Pseudomonas...	.	0.4791	0.44169	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
698	242685	1	161599693	T	C	45587	Benign	not_provided	.	0.58873	0.53295	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
699	801568	1	161751741	A	G	789872	Benign	Achromatopsia_7	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
700	801572	1	161823011	T	A	789876	Benign	Achromatopsia_7	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
701	259936	1	162722846	C	G	249489	Benign	not_specified	0.97301	0.99235	0.97045	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
702	259930	1	162740327	T	C	249493	Benign	not_specified	0.94756	.	0.94549	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
703	259932	1	162743418	G	T	249495	Benign	not_specified	0.99477	.	0.99241	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
704	293388	1	162750210	CTT	C	278133	Benign	Spondyloepimetaphyseal_dysplasia	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
705	767724	1	167871297	G	GA	777031	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
706	252576	1	168105581	A	AG	246866	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
707	293481	1	168282261	T	A	277084	Benign	Adrenocorticotropic_hormone_deficiency	0.45639	.	0.48942	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
708	293497	1	168283158	AAAAG	A	277351	Benign	Adrenocorticotropic_hormone_deficiency	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
709	293520	1	169435027	C	T	278187	Benign	Thiamine-responsive_megaloblastic_anemia|Megal...	.	.	0.9976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
710	683854	1	169446183	A	G	657157	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
711	683850	1	169455435	G	C	657162	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
712	293541	1	169481223	C	G	278256	Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	.	.	0.91234	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
713	293546	1	169481950	G	A	277166	Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	.	.	0.27556	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
714	293554	1	169482436	G	A	278264	Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	.	.	0.47744	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
715	255211	1	169498834	T	C	249500	Benign/Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	0.91635	0.93257	0.9363	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
716	255210	1	169498975	T	C	249501	Conflicting_interpretations_of_pathogenicity	Thrombophilia_due_to_activated_protein_C_resis...	0.28941	0.33506	0.30871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
717	255208	1	169510233	G	A	249503	Benign/Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	0.32908	0.29582	0.18211	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
718	255202	1	169511555	T	C	249507	Benign/Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	0.2435	0.27366	0.26278	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
719	255201	1	169511734	T	C	249508	Benign/Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	0.24373	0.27377	0.26278	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
720	255200	1	169511755	T	C	249509	Conflicting_interpretations_of_pathogenicity	Thrombophilia_due_to_activated_protein_C_resis...	0.24358	0.27684	0.26677	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
721	255196	1	169512027	T	C	249512	Benign/Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	0.24358	0.27365	0.26278	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
722	255194	1	169512093	A	G	249514	Benign/Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	0.2435	0.27368	0.26278	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
723	255193	1	169512120	G	A	249515	Benign/Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	0.24358	0.27361	0.26278	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
724	226007	1	169519049	T	C	227743	drug_response	hormonal_contraceptives_for_systemic_use_respo...	.	0.9785	0.99401	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
725	255197	1	169551682	T	C	249526	Benign/Likely_benign	Budd-Chiari_syndrome|Venous_thrombosis|Factor_...	0.20541	0.31354	0.22644	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
726	13527	1	169563951	T	G	28566	Benign	SELECTIN_P_POLYMORPHISM	.	0.08208	0.03594	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
727	262629	1	170521376	G	A	249533	Benign	Geroderma_osteodysplastica|not_specified	0.48585	.	0.59265	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
728	260074	1	171077198	G	A	249539	Benign	not_specified	0.54644	0.50485	0.53854	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
729	260076	1	171077372	C	G	249541	Benign	Trimethylaminuria|not_specified	0.2332	.	0.19888	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
730	16305	1	171080080	G	A	31344	Benign/Likely_benign	Trimethylaminuria|not_specified	.	0.08052	0.09764	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
731	767726	1	171178257	C	CT	696269	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
732	293709	1	171605539	A	G	277613	Benign/Likely_benign	Glaucoma|Primary_open_angle_glaucoma|not_speci...	0.02184	.	0.01218	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
733	595495	1	172411496	A	G	586557	Benign	not_specified	0.85376	0.8747	0.92412	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
734	683703	1	173807157	C	T	657200	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
735	224486	1	179519880	T	C	226216	Benign	Steroid-resistant_nephrotic_syndrome|Nephrotic...	.	.	0.90176	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
736	224485	1	179520050	T	C	226217	Likely_benign	Steroid-resistant_nephrotic_syndrome|Nephrotic...	.	.	0.28315	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
737	224483	1	179520151	C	T	226219	Benign	Steroid-resistant_nephrotic_syndrome|Nephrotic...	.	.	0.90515	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
738	293845	1	179520254	C	G	278562	Likely_benign	Steroid-resistant_nephrotic_syndrome	.	.	0.58786	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
739	260432	1	179520506	G	A	249553	Benign/Likely_benign	Steroid-resistant_nephrotic_syndrome|Nephrotic...	0.61718	.	0.58766	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
740	260424	1	179544898	T	C	249559	Benign	Steroid-resistant_nephrotic_syndrome|Nephrotic...	0.96632	0.96157	0.93091	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
741	225144	1	179545050	C	A	227036	Likely_benign	Steroid-resistant_nephrotic_syndrome|Nephrotic...	0.19314	0.36538	0.18331	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
742	257699	1	179852074	T	C	249561	Benign	not_specified	0.5692	.	0.60883	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
743	257701	1	179858444	G	A	249563	Conflicting_interpretations_of_pathogenicity	Muscular_dystrophy,_limb-girdle,_type_2y|not_s...	0.58306	0.64659	0.63538	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
744	257703	1	179876988	C	G	249565	Benign	not_specified	0.54021	.	0.58406	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
745	257698	1	179887125	G	A	249568	Benign	not_specified	0.9275	0.9485	0.91853	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
746	293866	1	180240510	T	C	278580	Likely_benign	Combined_Pituitary_Hormone_Deficiency,_Dominant	0.05905	0.0665	0.04133	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
747	262225	1	180243524	A	G	249572	Benign	Pituitary_hormone_deficiency,_combined_4|not_s...	0.41066	0.48502	0.42632	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
748	293882	1	182350896	C	G	277506	Benign	Glutamine_deficiency,_congenital	.	.	0.67572	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
749	293891	1	182351233	G	A	277529	Benign	Glutamine_deficiency,_congenital	.	.	0.71346	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
750	293893	1	182351422	A	G	278611	Benign	Glutamine_deficiency,_congenital	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
751	293902	1	182351627	T	A	277558	Benign	Glutamine_deficiency,_congenital	.	.	0.85463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
752	293903	1	182351630	T	TAAATGA	277731	Benign	Glutamine_deficiency,_congenital	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
753	293925	1	182352621	T	C	277624	Benign	Glutamine_deficiency,_congenital	.	.	0.67033	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
754	293934	1	182353198	A	T	278734	Benign	Glutamine_deficiency,_congenital	.	.	0.67572	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
755	293949	1	182356399	A	G	277633	Benign	Glutamine_deficiency,_congenital	0.5905	0.57481	0.67572	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
756	293950	1	182359678	C	A	277634	Likely_benign	Glutamine_deficiency,_congenital	.	.	0.01098	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
757	293962	1	182360843	C	G	278664	Benign	Glutamine_deficiency,_congenital	.	.	0.85743	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
758	293966	1	182360930	A	G	278773	Benign	Glutamine_deficiency,_congenital	.	.	0.85663	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
759	293971	1	182361162	C	G	277777	Likely_benign	Glutamine_deficiency,_congenital	.	.	0.09325	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
760	293983	1	183155482	C	A	278713	Benign	Epidermolysis_bullosa,_junctional	0.22182	0.3799	0.27476	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
761	259785	1	183177218	A	G	249573	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.44749	0.47386	0.49621	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
762	294155	1	185984517	T	C	277933	Likely_benign	Macular_degeneration	0.34643	0.42709	0.34305	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
763	294183	1	186026474	T	C	277951	Benign/Likely_benign	Macular_degeneration|Age-related_macular_degen...	0.52537	0.5389	0.52995	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
764	294186	1	186031041	C	T	278860	Likely_benign	Macular_degeneration	0.6284	0.59797	0.65435	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
765	96208	1	186050417	A	G	102102	Benign/Likely_benign	Macular_degeneration|Age-related_macular_degen...	0.55498	0.54528	0.58267	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
766	294201	1	186055371	A	G	278898	Likely_benign	Macular_degeneration	0.62811	0.57832	0.66134	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
767	294231	1	186086578	G	A	279089	Likely_benign	Macular_degeneration	0.63263	.	0.67552	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
768	294323	1	186159684	C	T	278073	Likely_benign	Macular_degeneration	.	.	0.18331	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
769	518309	1	186273994	C	T	508763	Benign	Camptodactyly_arthropathy_coxa_vara_pericardit...	0.29648	0.305	0.23163	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
770	518311	1	186277989	A	G	508765	Benign	Camptodactyly_arthropathy_coxa_vara_pericardit...	0.28464	0.30159	0.22125	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
771	692303	1	186280235	G	A	680086	Uncertain_significance	Fetal_akinesia_sequence|Arthrogryposis_multipl...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
772	676807	1	193202001	C	G	657203	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
773	294429	1	193220974	G	GT	279150	Uncertain_significance	Parathyroid_carcinoma|Hyperparathyroidism_2|Is...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
774	294488	1	196654324	A	C	279197	Benign	Macular_degeneration|Mesangiocapillary_glomeru...	0.6081	0.66662	0.71306	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
775	294490	1	196659237	C	T	278205	Benign	Macular_degeneration|Mesangiocapillary_glomeru...	.	0.67207	0.73343	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
776	294498	1	196695742	A	G	278184	Benign	Macular_degeneration|Mesangiocapillary_glomeru...	0.13694	0.19474	0.20288	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
777	294509	1	196709774	G	T	278188	Benign	Macular_degeneration|Mesangiocapillary_glomeru...	0.13801	0.19548	0.20328	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
778	778240	1	196759282	C	T	696347	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
779	294562	1	196978615	T	G	278235	Benign	Mesangiocapillary_glomerulonephritis,_type_II	.	.	0.27776	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
780	294566	1	197008365	C	T	278241	Likely_benign	Factor_XIII_subunit_B_deficiency	.	.	0.22844	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
781	258504	1	197009798	A	G	249586	Benign	Factor_XIII_subunit_B_deficiency|not_specified	0.38861	0.52701	0.52496	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
782	294586	1	197030087	C	T	279299	Uncertain_significance	Factor_XIII_subunit_B_deficiency	0.00584	0.00769	0.00339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
783	258505	1	197030201	T	C	249588	Benign	Factor_XIII_subunit_B_deficiency|not_specified	0.75615	0.88052	0.78375	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
784	16520	1	197031021	C	T	31559	Benign	Factor_XIII_subunit_B_deficiency|Venous_thromb...	.	0.87197	0.76178	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
785	294591	1	197053373	G	A	278274	Benign	Primary_Microcephaly,_Recessive	.	.	0.78235	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
786	678055	1	197055782	T	C	657204	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
787	157775	1	197055925	T	C	167622	Benign	Primary_autosomal_recessive_microcephaly_5|not...	0.75512	0.87863	0.78275	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
788	673924	1	197059878	G	A	657210	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
789	673923	1	197059892	A	G	657173	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
790	673922	1	197059928	A	G	657196	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
791	668875	1	197060783	A	T	657198	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
792	157902	1	197063352	C	T	167749	Benign	not_specified|not_provided	0.31325	0.34806	0.21426	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
793	667999	1	197064826	A	G	657205	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
794	678054	1	197064897	T	TGTA	657208	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
795	21611	1	197070442	G	T	34463	Benign	Primary_autosomal_recessive_microcephaly_5|not...	0.3229	.	0.21426	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
796	21605	1	197070697	T	C	34457	Benign	Primary_autosomal_recessive_microcephaly_5|not...	0.32108	0.34089	0.21426	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
797	21604	1	197070707	G	A	34456	Benign	Primary_autosomal_recessive_microcephaly_5|not...	0.32172	.	0.21426	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
798	21602	1	197070815	T	C	34454	Benign	Primary_autosomal_recessive_microcephaly_5|not...	0.78692	0.88756	0.8159	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
799	21599	1	197070901	A	G	34451	Benign	Primary_autosomal_recessive_microcephaly_5|not...	0.99569	0.9956	0.9974	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
800	21593	1	197072420	T	C	34445	Benign	Primary_autosomal_recessive_microcephaly_5|not...	0.32133	0.34078	0.21306	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
801	21586	1	197073932	T	C	34438	Benign	Primary_autosomal_recessive_microcephaly_5|not...	0.32237	0.34389	0.21446	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
802	673911	1	197086669	C	T	657216	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
803	21578	1	197091537	A	T	34430	Benign	Primary_autosomal_recessive_microcephaly_5|not...	0.75473	0.87788	0.78255	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
804	678194	1	197091808	T	C	657220	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
805	670423	1	197093098	A	T	657224	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
806	21573	1	197094030	C	T	34425	Benign/Likely_benign	Primary_autosomal_recessive_microcephaly_5|not...	0.26353	0.28011	0.21665	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
807	678053	1	197098143	G	C	657214	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
808	667998	1	197099485	A	G	657225	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
809	673910	1	197101303	C	A	657215	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
810	678051	1	197102839	A	C	657227	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
811	678190	1	197102926	C	T	657238	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
812	673909	1	197103975	G	A	657219	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
813	678050	1	197108693	C	T	657234	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
814	157788	1	197109042	C	T	167635	Benign	not_specified|not_provided	0.7555	0.87788	0.78255	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
815	95890	1	197112533	G	A	101786	Benign	Primary_autosomal_recessive_microcephaly_5|not...	0.73078	0.86978	0.75559	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
816	95888	1	197113073	G	A	101784	Benign/Likely_benign	Primary_autosomal_recessive_microcephaly_5|not...	0.73024	0.87038	0.75559	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
817	96660	1	197297540	A	T	102553	Benign	Leber_congenital_amaurosis|Pigmented_paravenou...	0.28657	0.44571	0.40316	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
818	263260	1	197316435	T	C	249591	Benign	not_specified	0.83085	0.81841	0.83926	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
819	166956	1	197390368	A	G	177648	Benign	not_specified	0.92104	0.97806	0.91973	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
820	427752	1	198776931	C	A	417641	Pathogenic	Acute_myeloid_leukemia_with_maturation	.	.	0.47724	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
821	427753	1	198796120	C	T	417642	Pathogenic	Acute_myeloid_leukemia_with_maturation	.	.	0.51837	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
822	427754	1	198867678	G	T	417643	Pathogenic	Acute_myeloid_leukemia_with_maturation	.	.	0.79573	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
823	427755	1	198868084	G	A	417644	Pathogenic	Acute_myeloid_leukemia_with_maturation	.	.	0.79553	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
824	427756	1	198869514	T	C	417645	Pathogenic	Acute_myeloid_leukemia_with_maturation	.	.	0.82009	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
825	767740	1	200880978	C	T	696372	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
826	678241	1	201009897	T	C	657244	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
827	199680	1	201020105	A	G	196497	Benign	Malignant_hyperthermia_susceptibility|Hypokale...	0.75481	0.77049	0.88039	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
828	668057	1	201020574	T	G	657255	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
829	668880	1	201023034	C	G	657228	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
830	668056	1	201023980	G	C	657233	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
831	254826	1	201028299	G	A	249614	Benign	not_specified	0.01507	0.01527	0.00439	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
832	668055	1	201037962	T	C	657261	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
833	678298	1	201042618	G	A	657273	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
834	678297	1	201042983	G	A	657276	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
835	668054	1	201043301	C	T	657281	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
836	668053	1	201044344	C	T	657245	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
837	254804	1	201044748	A	G	249634	Benign	Malignant_hyperthermia_susceptibility|Hypokale...	0.70329	0.78137	0.75959	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
838	678221	1	201046379	T	G	657275	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
839	678220	1	201046388	A	G	657278	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
840	678219	1	201052640	G	A	657249	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
841	678218	1	201058692	T	C	657290	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
842	678216	1	201060525	C	T	657277	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
843	254852	1	201060865	G	A	249654	Benign	Malignant_hyperthermia_susceptibility|Hypokale...	0.32977	0.38867	0.30511	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
844	294795	1	201252701	A	T	279712	Benign	Ectodermal_dysplasia_skin_fragility_syndrome	.	.	0.61362	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
845	294839	1	201299470	A	C	278505	Benign	Ectodermal_dysplasia_skin_fragility_syndrome	.	.	0.67193	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
846	294846	1	201299748	G	A	279643	Benign	Ectodermal_dysplasia_skin_fragility_syndrome	.	.	0.62939	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
847	294847	1	201299785	A	C	278428	Benign	Ectodermal_dysplasia_skin_fragility_syndrome	.	.	0.80132	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
848	294851	1	201299852	A	G	278508	Benign	Ectodermal_dysplasia_skin_fragility_syndrome	.	.	0.6274	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
849	294854	1	201299900	G	A	278432	Benign	Ectodermal_dysplasia_skin_fragility_syndrome	.	.	0.6274	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
850	294871	1	201300842	T	C	279691	Benign	Ectodermal_dysplasia_skin_fragility_syndrome	.	.	0.90415	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
851	294872	1	201300858	C	A	278521	Benign	Ectodermal_dysplasia_skin_fragility_syndrome	.	.	0.94669	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
852	294886	1	201301873	A	G	279700	Benign	Ectodermal_dysplasia_skin_fragility_syndrome	.	.	0.84225	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
853	294887	1	201301906	C	G	279701	Benign	Ectodermal_dysplasia_skin_fragility_syndrome	.	.	0.86422	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
854	256845	1	201331554	T	G	249665	Benign	Familial_hypertrophic_cardiomyopathy_2|not_spe...	0.73412	0.73349	0.74221	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
855	671946	1	201331664	C	A	657344	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
856	43632	1	201334382	G	A	52801	Benign/Likely_benign	Cardiomyopathy|Hypertrophic_cardiomyopathy|Lef...	0.68276	0.7194	0.69509	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
857	684018	1	201336641	G	A	657303	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
858	256843	1	201336984	C	T	249666	Benign	not_specified	0.32685	.	0.28554	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
859	671945	1	201337170	A	G	657292	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
860	684013	1	201342862	C	T	657320	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
861	8112	1	203155882	G	C	23151	risk_factor	Asthma-related_traits,_susceptibility_to,_7	.	.	0.78554	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
862	294949	1	203198845	C	T	279777	Likely_benign	Chitotriosidase_deficiency	0.0392	0.05698	0.02077	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
863	677222	1	203472112	T	C	655057	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
864	256380	1	204129671	A	C	249672	Benign	not_specified	0.24643	.	0.28115	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
865	403018	1	204159611	CT	C	389367	Benign	not_specified	0.16724	0.2983	0.22185	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
866	801606	1	205031116	C	T	789914	Benign	Epilepsy,_familial_adult_myoclonic,_5	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
867	260658	1	205129319	G	A	249674	Benign	not_specified	0.28564	0.30096	0.37141	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
868	260657	1	205130413	A	G	249675	Benign	not_specified	0.93019	0.93167	0.96106	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
869	403451	1	205884274	T	C	389347	Benign	not_specified	0.19937	0.10549	0.15415	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
870	403454	1	205890679	T	C	389371	Benign	not_specified	0.90428	0.91504	0.91414	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
871	16873	1	206946407	T	G	31912	protective,_risk_factor	Human_immunodeficiency_virus_type_1,_susceptib...	.	.	0.5651	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
872	402444	1	207297680	T	C	389358	Benign	not_specified	0.86099	0.85449	0.85783	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
873	810914	1	207653364	A	G	799152	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
874	402562	1	207653395	C	A	389350	Benign	not_specified	0.87879	0.88354	0.94289	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
875	294983	1	207967719	T	C	278756	Benign	Atypical_hemolytic_uremic_syndrome	.	.	0.34724	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
876	368859	1	209788213	T	C	353088	Benign	Epidermolysis_bullosa,_junctional	.	.	0.77476	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
877	295059	1	209788514	G	A	280031	Benign	Epidermolysis_bullosa,_junctional	.	.	0.29513	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
878	255590	1	209792015	A	AC	249681	Benign	Epidermolysis_bullosa,_junctional|not_specifie...	0.95184	0.95669	0.98363	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
879	255587	1	209799253	A	G	249684	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.746	0.75645	0.76498	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
880	255598	1	209804095	G	A	249689	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.84061	0.84717	0.82328	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
881	255596	1	209807972	G	A	249691	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.3137	0.36248	0.24541	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
882	255592	1	209811886	T	G	249694	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.57458	0.57094	0.43251	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
883	255584	1	209823354	G	A	249695	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.24235	0.27791	0.29792	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
884	295175	1	209959614	G	T	280046	Benign	Popliteal_pterygium_syndrome|Van_der_Woude_syn...	.	.	0.3099	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
885	295178	1	209959872	G	A	280163	Benign	Popliteal_pterygium_syndrome|Van_der_Woude_syn...	.	.	0.80811	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
886	295184	1	209960436	G	A	280053	Benign	Popliteal_pterygium_syndrome|Van_der_Woude_syn...	.	.	0.29912	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
887	295190	1	209960925	T	C	280057	Benign	Popliteal_pterygium_syndrome|Van_der_Woude_syn...	.	.	0.29712	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
888	295193	1	209961023	T	A	280172	Benign	Popliteal_pterygium_syndrome|Van_der_Woude_syn...	.	.	0.30371	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
889	295199	1	209961314	T	C	280174	Benign	Popliteal_pterygium_syndrome|Van_der_Woude_syn...	.	.	0.08746	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
890	259926	1	209965587	G	C	249700	Benign	not_specified	0.34453	.	0.40515	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
891	259925	1	209968684	C	A	249701	Benign	Popliteal_pterygium_syndrome|Van_der_Woude_syn...	0.34238	.	0.40375	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
892	259923	1	209969902	G	C	249702	Benign	Van_der_Woude_syndrome|not_specified	0.33054	0.32601	0.27097	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
893	295267	1	211665298	A	AG	278948	Benign	Leber_congenital_amaurosis	.	.	0.73902	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
894	295305	1	211666218	A	G	278964	Likely_benign	Leber_congenital_amaurosis	.	.	0.48203	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
895	717611	1	211844535	C	G	729961	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
896	403228	1	211846876	A	G	389380	Benign	not_specified	0.50146	0.55836	0.60304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
897	177993	1	215848641	T	C	172380	Benign	not_specified	0.75442	0.76619	0.6897	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
898	667898	1	215901987	G	T	657334	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
899	48378	1	215914826	T	C	57540	Benign	not_specified	0.21844	.	0.15934	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
900	48377	1	215916563	G	A	57539	Benign	Usher_syndrome,_type_2A|not_specified	0.20245	0.19185	0.14457	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
901	678886	1	215931704	T	C	657298	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
902	667897	1	215932743	T	G	657339	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
903	667896	1	215933460	C	T	657341	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
904	672465	1	215955813	T	C	657342	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
905	678885	1	215955869	T	C	657346	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
906	678884	1	215955937	T	G	657343	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
907	48344	1	215960167	T	G	57506	Benign	Usher_syndrome,_type_2A|not_specified	0.57058	0.54689	0.58866	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
908	672464	1	215960476	T	G	657347	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
909	671597	1	215968078	A	G	657348	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
910	137896	1	216143948	T	C	141599	Benign	not_specified	0.10334	.	0.07847	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
911	48562	1	216172380	A	G	57724	Benign	Usher_syndrome,_type_2A|not_specified	0.48093	0.55669	0.59345	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
912	167815	1	216219781	A	G	172908	Benign	Usher_syndrome,_type_2A|not_specified	0.70045	0.60693	0.59565	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
913	177992	1	216348764	C	T	172529	Benign	not_specified	0.60641	0.65801	0.66234	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
914	667894	1	216390475	C	T	657377	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
915	48483	1	216424303	A	G	57645	Benign	not_specified|not_provided	0.01292	0.01581	0.00739	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
916	295461	1	218519260	A	C	279029	Benign	Loeys-Dietz_syndrome	.	.	0.9994	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
917	295476	1	218519398	GCA	G	280527	Likely_benign	Loeys-Dietz_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
918	213836	1	218578521	G	A	209434	Benign/Likely_benign	Connective_tissue_disorder|Loeys-Dietz_syndrom...	0.00069	0.00089	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
919	295576	1	220087703	C	T	280820	Likely_benign	Hypermanganesemia_with_dystonia_1	.	.	0.04093	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
920	295578	1	220088047	C	A	280787	Benign	Hypermanganesemia_with_dystonia_1	.	.	0.86981	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
921	380570	1	220267581	G	T	364655	Benign	not_specified|not_provided	0.01479	0.03515	0.02895	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
922	380023	1	220269439	A	T	364786	Benign	not_specified|not_provided	0.03454	0.08087	0.07129	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
923	680665	1	220269800	C	T	657384	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
924	676140	1	220275378	G	A	657376	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
925	680611	1	220276333	A	G	657379	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
926	680672	1	220287350	C	T	657381	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
927	680614	1	220287461	C	T	657385	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
928	680673	1	220288100	G	A	657392	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
929	380024	1	220319007	A	G	364901	Benign	not_specified	0.07789	0.1023	0.06909	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
930	680616	1	220320541	A	G	657393	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
931	295635	1	220324189	A	G	280822	Likely_benign	Martsolf_syndrome|Warburg_micro_syndrome	.	.	0.0627	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
932	130080	1	220330672	C	T	135526	Benign/Likely_benign	Martsolf_syndrome|Warburg_micro_syndrome|not_s...	0.0692	0.08763	0.0605	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
933	130079	1	220331205	C	G	135525	Benign/Likely_benign	Martsolf_syndrome|Warburg_micro_syndrome|not_s...	0.0692	0.08945	0.0603	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
934	680734	1	220383449	C	G	657397	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
935	673980	1	220406291	A	G	657395	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
936	262131	1	223178561	A	C	249737	Benign	not_specified	0.53491	0.54533	0.498	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
937	6659	1	223284599	T	C	21698	risk_factor	Legionellosis	.	0.14872	0.14018	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
938	402644	1	225230608	C	T	389376	Benign	not_specified	0.82435	0.86591	0.70128	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
939	402645	1	225266966	C	G	389361	Benign	not_specified	0.82661	0.86544	0.70228	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
940	402646	1	225268106	C	A	389364	Benign	not_specified	0.03044	.	0.01597	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
941	402647	1	225268343	A	G	389366	Benign	not_specified	0.82676	0.86543	0.70328	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
942	402648	1	225268346	G	A	389396	Benign	not_specified	0.82676	0.8663	0.70268	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
943	402649	1	225270409	A	T	389369	Benign	not_specified	0.76172	0.80199	0.66214	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
944	402650	1	225273248	G	T	389401	Benign	not_specified	0.82513	0.86657	0.70208	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
945	402652	1	225439988	T	C	389377	Benign	not_specified	0.34735	0.3252	0.48502	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
946	402653	1	225445652	G	T	389378	Benign	not_specified	0.32435	0.3248	0.48502	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
947	402656	1	225528183	C	A	389404	Benign	not_specified	0.49255	0.49343	0.52975	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
948	402657	1	225533684	A	G	389385	Benign	not_specified	0.49234	0.50697	0.52895	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
949	402659	1	225534219	T	C	389383	Benign	not_specified	0.49276	0.49357	0.52915	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
950	402660	1	225534348	G	A	389387	Benign	not_specified	.	0.51232	0.52915	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
951	402661	1	225555512	C	T	389391	Benign	not_specified	0.46408	0.42805	0.32508	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
952	402662	1	225555602	T	G	389393	Benign	not_specified	0.46846	0.43339	0.32947	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
953	402663	1	225562385	C	T	389386	Benign	not_specified	0.72339	0.7486	0.70967	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
954	402664	1	225565015	T	C	389408	Benign	not_specified	0.56176	0.55721	0.55631	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
955	402665	1	225565073	C	T	389410	Benign	not_specified	0.49015	0.50025	0.49181	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
956	402666	1	225569241	T	G	389388	Benign	not_specified	0.53198	0.54833	0.52836	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
957	295935	1	225599035	A	G	280960	Conflicting_interpretations_of_pathogenicity	Greenberg_dysplasia|not_provided	0.00054	0.00018	0.0006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
958	258619	1	225607144	C	T	249738	Benign	Greenberg_dysplasia|not_specified|not_provided	0.70329	0.80092	0.71226	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
959	258617	1	225609884	A	G	249740	Benign	Greenberg_dysplasia|not_specified|not_provided	0.65916	.	0.67093	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
960	258616	1	225611661	C	T	249741	Benign	Greenberg_dysplasia|not_specified|not_provided	0.69899	0.71123	0.65715	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
961	810884	1	225611845	C	T	799185	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
962	256184	1	227069677	T	C	249746	Benign/Likely_benign	Early-Onset_Familial_Alzheimer_Disease|not_spe...	0.7931	0.76035	0.73562	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
963	256180	1	227069737	C	T	249747	Benign/Likely_benign	Alzheimer_disease,_type_4|Early-Onset_Familial...	0.48954	0.49948	0.44329	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
964	256181	1	227071525	C	T	249748	Benign/Likely_benign	Alzheimer_disease,_type_4|Early-Onset_Familial...	0.49016	0.49907	0.44329	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
965	296001	1	227083550	C	T	281058	Likely_benign	Early-Onset_Familial_Alzheimer_Disease|Dilated...	.	.	0.45088	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
966	683200	1	227165484	T	C	657414	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
967	671530	1	227170298	A	G	657420	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
968	671531	1	227170543	C	G	657424	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
969	671532	1	227170768	T	C	657396	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
970	128274	1	227172290	C	T	133723	Benign	Coenzyme_Q10_deficiency,_primary,_4|not_specif...	0.37367	.	0.23862	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
971	676090	1	227172903	G	A	657418	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
972	518313	1	227172935	C	G	508767	Likely_benign	Coenzyme_Q10_deficiency,_primary,_4	0.39859	0.36315	0.26518	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
973	683201	1	227173892	T	A	657421	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
974	296024	1	227174145	T	C	279683	Benign	Coenzyme_Q10_deficiency,_primary,_4|Autosomal_...	0.4757	0.41548	0.35164	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
975	128275	1	227174210	T	C	133724	Benign	Coenzyme_Q10_deficiency,_primary,_4|not_specif...	0.44218	0.40536	0.3139	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
976	296038	1	227174823	A	AT	280934	Benign	Autosomal_recessive_cerebellar_ataxia|Coenzyme...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
977	296040	1	227174902	G	A	281095	Benign	Autosomal_recessive_cerebellar_ataxia|Coenzyme...	.	.	0.35204	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
978	296045	1	227175119	G	A	281096	Likely_benign	Autosomal_recessive_cerebellar_ataxia|Coenzyme...	.	.	0.09445	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
979	296050	1	227175245	C	CT	281105	Benign	Autosomal_recessive_cerebellar_ataxia|Coenzyme...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
980	368867	1	227175253	C	T	353096	Benign	Autosomal_recessive_cerebellar_ataxia|Coenzyme...	.	.	0.41913	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
981	380039	1	228353651	G	C	364874	Benign	not_specified|not_provided	.	0.48905	0.35603	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
982	684212	1	228362213	C	G	657426	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
983	379988	1	228362682	G	A	364698	Benign	not_specified|not_provided	0.25694	0.28943	0.15695	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
984	713265	1	228451941	C	T	718723	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
985	676564	1	229568231	T	G	657430	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
986	767760	1	229663064	GAGGAA	G	777079	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
987	254725	1	230841687	T	C	249765	Benign	Renal_dysplasia|not_specified	0.94087	0.94407	0.97264	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
988	18068	1	230845794	A	G	33107	Benign	Hypertension,_essential,_susceptibility_to|Pre...	.	0.54843	0.70507	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
989	296083	1	230845977	G	A	280975	Likely_benign	Renal_dysplasia	0.10926	0.12301	0.10164	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
990	296090	1	230849872	C	T	281157	Benign	Renal_dysplasia|not_provided	.	.	0.71046	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
991	296092	1	230849886	T	G	280986	Likely_benign	Renal_dysplasia	.	.	0.17592	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
992	296097	1	230850083	C	T	279450	Benign	Renal_dysplasia	.	.	0.1895	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
993	296108	1	231377081	C	T	279735	Benign	Rhizomelic_chondrodysplasia_punctata|not_speci...	0.5509	0.54901	0.58187	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
994	671164	1	231396634	T	C	657443	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
995	671168	1	231400905	A	G	657355	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
996	260363	1	231401902	G	A	249768	Benign	Rhizomelic_chondrodysplasia_punctata|Rhizomeli...	0.5948	0.56762	0.62859	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
997	671169	1	231403265	T	C	657404	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
998	671188	1	231403830	C	T	657356	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
999	671189	1	231403966	A	G	657452	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1000	671190	1	231406295	T	C	657453	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1001	671196	1	231406961	C	T	657358	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1002	667599	1	231410115	T	C	657459	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1003	296151	1	231500238	A	G	281187	Benign	Familial_erythrocytosis	.	.	0.02736	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1004	98346	1	231830295	G	A	104239	not_provided	not_provided	0.26003	0.29234	0.23223	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1005	402981	1	234743237	G	A	389397	Benign	not_specified	0.12417	0.10904	0.08526	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1006	402984	1	234745009	A	G	389426	Benign	not_specified	.	0.63648	0.60383	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1007	296305	1	235600741	A	G	281239	Likely_benign	Hypoparathyroidism_retardation_dysmorphism_syn...	0.04944	0.02269	0.03614	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1008	262651	1	235652513	T	C	249770	Benign	not_specified	0.52091	0.58398	0.67871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1009	403065	1	235826382	TA	T	389398	Benign/Likely_benign	Chédiak-Higashi_syndrome|not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1010	684368	1	235827641	C	T	657363	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1011	684367	1	235856395	A	C	657477	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1012	254908	1	235860340	C	T	249775	Benign	not_specified|not_provided	0.58228	0.4366	0.39996	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1013	684363	1	235872665	T	C	657480	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1014	684361	1	235887276	G	T	657482	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1015	684360	1	235896726	C	T	657489	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1016	672017	1	235906983	T	C	657493	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1017	254935	1	235922228	T	C	249784	Benign	not_specified	0.31893	0.24895	0.23003	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1018	254931	1	235922671	T	G	249788	Conflicting_interpretations_of_pathogenicity	Chédiak-Higashi_syndrome|not_specified|not_pro...	0.00469	0.00428	0.00359	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1019	684352	1	235933904	C	T	657494	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1020	254927	1	235940450	C	T	249791	Benign	Chédiak-Higashi_syndrome|not_specified|not_pro...	0.43541	0.34832	0.30092	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1021	254923	1	235945294	T	C	249795	Benign	Chédiak-Higashi_syndrome|not_specified|not_pro...	0.43611	0.35012	0.30351	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1022	684345	1	235945502	A	G	657454	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1023	254912	1	235972435	T	C	249806	Benign	Chédiak-Higashi_syndrome|not_specified|not_pro...	0.43665	0.34992	0.30272	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1024	254910	1	235972867	T	C	249807	Benign	Chédiak-Higashi_syndrome|not_specified|not_pro...	0.43649	0.34999	0.30332	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1025	684339	1	235976594	C	T	657366	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1026	684338	1	235976651	T	C	657368	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1027	262600	1	236557771	G	A	249813	Benign	not_specified|Hypohidrotic_Ectodermal_Dysplasi...	0.73835	.	0.77676	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1028	439637	1	236557928	G	A	433521	Benign	not_specified	.	.	0.77236	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1029	262602	1	236645670	C	T	249816	Benign/Likely_benign	not_specified|Hypohidrotic_Ectodermal_Dysplasi...	0.18968	0.20239	0.13319	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1030	671981	1	236850256	A	G	657372	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1031	671982	1	236881403	C	T	657423	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1032	671983	1	236882110	G	A	657435	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1033	43937	1	236882303	T	C	53106	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.99223	0.99791	0.99261	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1034	678437	1	236883161	A	G	657436	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1035	671984	1	236883240	T	C	657439	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1036	43938	1	236883421	C	T	53107	Benign	not_specified|not_provided	0.93772	0.96238	0.92073	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1037	671985	1	236883564	G	A	657440	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1038	672001	1	236883686	G	T	657442	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1039	672002	1	236890781	A	G	657373	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1040	671060	1	236894647	G	A	657467	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1041	672003	1	236897633	A	G	657456	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1042	672004	1	236898035	T	C	657468	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1043	177799	1	236899042	G	A	172789	Benign	not_specified|not_provided	0.15662	0.16674	0.19589	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1044	672005	1	236900018	G	A	657513	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1045	678091	1	236902364	C	T	657461	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1046	671061	1	236902560	C	T	657476	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1047	43950	1	236902594	C	G	53119	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Dilated_cardiomyop...	0.77749	.	0.76757	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1048	671062	1	236902865	A	C	657522	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1049	672006	1	236902955	T	C	657466	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1050	672446	1	236910863	T	C	657470	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1051	682668	1	236911343	C	T	657416	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1052	672007	1	236912219	G	T	657527	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1053	672008	1	236912286	G	A	657491	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1054	682669	1	236912839	A	G	657488	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1055	672009	1	236914576	C	T	657531	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1056	672010	1	236914610	G	C	657501	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1057	682671	1	236915207	G	A	657492	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1058	682681	1	236918005	T	C	657547	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1059	672011	1	236923299	A	G	657517	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1060	682682	1	236923390	C	A	657499	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1061	671063	1	236924506	A	G	657523	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1062	43933	1	236925844	G	A	53102	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Dilated_cardiomyop...	0.1557	0.16881	0.19609	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1063	296512	1	236926030	A	G	281366	Likely_benign	Hypertrophic_cardiomyopathy|Dilated_Cardiomyop...	.	.	0.34984	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1064	296517	1	236926366	C	G	280081	Likely_benign	Hypertrophic_cardiomyopathy|Dilated_Cardiomyop...	.	.	0.40455	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1065	296518	1	236926445	T	C	281561	Likely_benign	Hypertrophic_cardiomyopathy|Dilated_Cardiomyop...	.	.	0.55731	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1066	296520	1	236926643	G	C	281562	Likely_benign	Hypertrophic_cardiomyopathy|Dilated_Cardiomyop...	.	.	0.21745	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1067	296521	1	236926667	A	G	279762	Likely_benign	Hypertrophic_cardiomyopathy|Dilated_Cardiomyop...	.	.	0.39916	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1068	138288	1	237038161	T	C	141991	Benign	Disorders_of_Intracellular_Cobalamin_Metabolis...	0.26665	0.3184	0.23223	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1069	138289	1	237048500	A	G	141992	Benign	Neural_tube_defects,_folate-sensitive,_suscept...	0.22036	0.20908	0.21825	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1070	138284	1	237058828	C	T	141987	Benign	Disorders_of_Intracellular_Cobalamin_Metabolis...	0.54606	.	0.52915	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1071	138285	1	237060433	G	T	141988	Benign	Disorders_of_Intracellular_Cobalamin_Metabolis...	0.71336	0.67559	0.7524	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1072	296586	1	237060945	CT	C	280140	Conflicting_interpretations_of_pathogenicity	METHYLCOBALAMIN_DEFICIENCY,_cblG_TYPE|Disorder...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1073	296587	1	237061056	A	C	279822	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.54014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1074	296598	1	237061849	G	A	281447	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.24601	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1075	296610	1	237062198	A	C	279848	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.76458	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1076	296611	1	237062305	A	G	281657	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.76438	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1077	296618	1	237062628	C	T	281662	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.20367	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1078	296631	1	237063335	G	C	281701	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.73283	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1079	296635	1	237063709	T	TA	281703	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1080	296637	1	237063717	AAG	A	280180	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1081	296655	1	237064626	T	G	280196	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.53974	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1082	296668	1	237065326	C	T	281517	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.54473	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1083	296673	1	237065583	G	T	280208	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.76458	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1084	668912	1	237433524	C	T	657524	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1085	672066	1	237433625	C	T	657528	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1086	683744	1	237434181	G	A	657549	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1087	683746	1	237434251	A	T	657437	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1088	683751	1	237493854	C	A	657447	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1089	671021	1	237519137	T	A	657533	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1090	683754	1	237550323	A	C	657540	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1091	43817	1	237551376	T	A	52986	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.52728	.	0.55651	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1092	671745	1	237580606	G	T	657541	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1093	671746	1	237580612	G	C	657557	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1094	43749	1	237619875	AT	A	52918	Benign/Likely_benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1095	683767	1	237654831	G	T	657521	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1096	669198	1	237656018	A	C	657496	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1097	671748	1	237693471	T	C	657625	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1098	673303	1	237693479	C	T	657564	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1099	672071	1	237693921	A	G	657535	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1100	670895	1	237694039	G	A	657627	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1101	683776	1	237711457	A	G	657569	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1102	671749	1	237711644	T	C	657532	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1103	43763	1	237711797	A	G	52932	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.85111	.	0.83027	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1104	669902	1	237713557	A	G	657571	Likely_benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1105	671750	1	237729774	G	A	657572	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1106	257207	1	237730124	A	G	249820	Benign	not_specified|not_provided	0.90552	0.95754	0.90555	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1107	671751	1	237730169	C	T	657534	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1108	671752	1	237732332	C	T	657643	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1109	257208	1	237732395	G	A	249821	Benign	not_specified|not_provided	0.5935	0.6443	0.49281	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1110	672072	1	237753364	A	C	657559	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1111	672073	1	237753390	A	G	657550	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1112	674656	1	237753519	T	C	657583	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1113	669266	1	237753542	C	T	657646	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1114	683778	1	237753571	G	A	657584	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1115	257210	1	237754340	A	G	249823	Benign	not_specified|not_provided	0.38631	0.44671	0.33746	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1116	683781	1	237754605	G	A	657648	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1117	671504	1	237754963	A	G	657553	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1118	43782	1	237755076	A	G	52951	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.0161	0.01824	0.00719	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1119	257211	1	237755188	C	T	249824	Benign	not_specified|not_provided	0.38915	0.45979	0.33586	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1120	257212	1	237755203	T	C	249825	Benign	not_specified|not_provided	0.3819	0.43174	0.33746	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1121	671201	1	237755348	T	C	657555	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1122	671202	1	237755402	T	G	657651	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1123	672074	1	237757027	G	A	657656	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1124	672075	1	237765200	G	A	657565	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1125	671203	1	237765470	A	T	657562	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1126	683782	1	237774614	C	T	657599	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1127	671769	1	237788844	T	C	657598	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1128	671770	1	237788862	T	C	657666	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1129	672078	1	237789317	A	G	657603	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1130	671771	1	237791674	C	T	657588	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1131	671772	1	237794603	A	G	657607	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1132	683784	1	237795150	G	C	657612	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1133	671773	1	237796759	G	C	657626	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1134	257214	1	237796837	G	A	249826	Benign	not_specified|not_provided	0.38679	0.36365	0.42851	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1135	671205	1	237797082	T	G	657616	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1136	671206	1	237797103	C	A	657618	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1137	671774	1	237797973	C	T	657681	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1138	671775	1	237797997	A	G	657637	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1139	671776	1	237798450	G	A	657621	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1140	43819	1	237801770	T	C	52988	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.95921	0.98839	0.95487	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1141	683787	1	237807069	T	C	657630	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1142	672095	1	237813030	C	T	657631	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1143	671777	1	237813126	A	G	657605	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1144	43827	1	237814783	C	T	52996	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.45073	0.51982	0.55491	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1145	671207	1	237814898	C	A	657613	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1146	672096	1	237817784	A	G	657635	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1147	672097	1	237819014	C	G	657619	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1148	672098	1	237819431	C	T	657645	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1149	672099	1	237821109	T	A	657657	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1150	670946	1	237823959	C	T	657678	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1151	671026	1	237824332	G	A	657663	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1152	683788	1	237830895	G	T	657680	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1153	671208	1	237831103	C	A	657664	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1154	36750	1	237841390	A	G	45411	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.22487	0.25333	0.09924	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1155	672100	1	237862436	T	C	657629	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1156	672101	1	237862458	A	G	657667	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1157	683792	1	237862587	G	A	657668	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1158	683794	1	237863210	G	T	657669	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1159	43836	1	237863718	T	G	53005	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.97182	.	0.96925	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1160	671778	1	237865203	C	T	657711	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1161	683789	1	237875417	C	T	657640	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1162	43699	1	237881770	C	T	52868	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.96162	0.98859	0.96046	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1163	672102	1	237886739	C	T	657655	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1164	43702	1	237890437	C	T	52871	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.96078	0.98853	0.96026	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1165	198668	1	237893674	C	T	195829	Benign	not_specified	0.98538	0.99539	0.98522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1166	683797	1	237896736	G	A	657676	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1167	683793	1	237905342	G	A	657712	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1168	672103	1	237924044	T	C	657719	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1169	669249	1	237949020	T	TG	657700	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1170	93476	1	237951451	A	G	99381	Benign	not_specified	0.61764	0.575	0.63658	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1171	257200	1	237951482	G	A	249835	Benign	not_specified|not_provided	0.35603	0.27881	0.29792	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1172	672161	1	237954545	G	C	657746	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1173	257201	1	237957146	G	A	249836	Benign	not_specified	0.62419	0.71344	0.73403	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1174	43731	1	237957161	A	G	52900	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.65138	0.73989	0.75759	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1175	43732	1	237957309	A	C	52901	Benign/Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopath...	0.64784	0.72731	0.7508	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1176	669618	1	237958925	A	ATTTT	657707	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1177	678017	1	237961712	C	CTATT	657734	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1178	683800	1	237961740	T	C	657745	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1179	683802	1	237961789	T	C	657761	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1180	669252	1	237964934	A	G	657762	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1181	683804	1	237995162	T	TTTGA	657773	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1182	672106	1	237995671	A	G	657743	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1183	296789	1	237996581	G	GA	280387	Uncertain_significance	Arrhythmogenic_right_ventricular_cardiomyopath...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1184	296799	1	237996661	C	G	281694	Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopath...	.	.	0.22045	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1185	296809	1	237997087	A	G	281876	Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopath...	.	.	0.24681	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1186	683908	1	241671638	C	T	657728	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1187	260006	1	243493907	A	T	249851	Benign	Renal_dysplasia_and_retinal_aplasia|Bardet-Bie...	0.26818	0.29756	0.27137	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1188	260008	1	243507680	C	CA	249853	Benign	not_specified	0.28175	0.2608	0.23782	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1189	677638	1	243827863	A	G	656829	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1190	296931	1	247581692	T	C	280586	Benign	Familial_amyloid_nephropathy_with_urticaria_AN...	.	.	0.9978	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1191	138528	1	247587477	G	A	142231	Benign	Familial_amyloid_nephropathy_with_urticaria_AN...	0.40597	.	0.38738	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1192	403243	1	247587531	A	G	389399	Benign	not_specified	0.91881	0.94259	0.91993	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1193	296956	1	247612036	G	C	280213	Benign	Familial_amyloid_nephropathy_with_urticaria_AN...	.	.	0.65355	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1194	296960	1	247612202	T	A	281902	Benign	Familial_amyloid_nephropathy_with_urticaria_AN...	.	.	0.13159	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1195	767775	1	248343990	T	C	696646	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1196	331215	2	1417244	A	G	282528	Likely_benign	Congenital_hypothyroidism	.	.	0.63239	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1197	256607	2	1418192	C	G	250164	Benign/Likely_benign	Congenital_hypothyroidism|Deficiency_of_iodide...	0.3553	.	0.3117	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1198	256605	2	1481155	G	T	250167	Benign/Likely_benign	Congenital_hypothyroidism|Deficiency_of_iodide...	0.4069	0.45782	0.40815	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1199	256606	2	1481231	G	C	250168	Benign	Congenital_hypothyroidism|Deficiency_of_iodide...	0.78163	0.64004	0.71026	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1200	256608	2	1497803	C	T	250170	Benign/Likely_benign	Congenital_hypothyroidism|Deficiency_of_iodide...	0.35053	0.36304	0.35903	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1201	256610	2	1499899	C	T	250173	Benign/Likely_benign	Congenital_hypothyroidism|Deficiency_of_iodide...	0.41304	.	0.4389	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1202	256611	2	1499927	A	C	250174	Benign/Likely_benign	Congenital_hypothyroidism|Deficiency_of_iodide...	0.47032	0.42798	0.4984	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1203	256614	2	1520676	T	C	250292	Benign	Congenital_hypothyroidism|Deficiency_of_iodide...	0.61326	0.58982	0.66394	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1204	331644	2	1546327	C	G	282293	Likely_benign	Congenital_hypothyroidism	0.38152	.	0.35264	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1205	260228	2	1647171	T	C	250314	Benign	not_specified|not_provided	0.86344	.	0.90775	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1206	260224	2	1652660	G	A	250318	Benign	not_specified|not_provided	0.25024	.	0.24481	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1207	260223	2	1652822	T	G	250319	Benign	not_specified|not_provided	0.89915	.	0.9355	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1208	260220	2	1664654	A	G	250345	Benign	not_specified|not_provided	0.71349	0.75601	0.8109	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1209	683674	2	3597974	T	C	655445	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1210	669563	2	3599539	A	G	659171	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1211	683672	2	3599700	G	T	659096	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1212	683668	2	3605468	A	G	659172	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1213	670034	2	3605528	T	G	659098	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1214	670028	2	3605538	A	C	659196	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1215	335905	2	3628383	C	A	289245	Benign	Diamond-Blackfan_anemia|not_specified	0.13942	0.12025	0.13339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1216	402557	2	3653844	T	C	389501	Benign	not_specified	.	0.78266	0.7512	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1217	402556	2	3673648	G	A	389503	Benign	not_specified	0.10795	0.12722	0.11921	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1218	330649	2	10192851	G	GTT	281475	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1219	330669	2	10194192	T	C	281495	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	0.83087	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1220	330674	2	10194487	T	C	283502	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	0.58706	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1221	403386	2	11333994	T	G	389448	Benign	not_specified	0.23093	0.31816	0.30192	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1222	403387	2	11359120	G	T	389439	Benign	not_specified	0.45054	0.49815	0.39976	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1223	403044	2	11817812	G	C	389455	Benign	not_specified|not_provided	.	0.63226	0.48642	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1224	96495	2	11905876	C	T	102389	Benign	not_specified	0.26465	0.29787	0.20467	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1225	683089	2	11924950	T	C	658057	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1226	262586	2	11932173	G	T	250105	Benign	not_specified|not_provided	0.69622	0.55976	0.53694	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1227	683094	2	11932335	T	C	658186	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1228	684303	2	11945533	C	A	658010	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1229	262591	2	11955322	G	C	250108	Benign/Likely_benign	not_specified|Acute_Recurrent_Myoglobinuria	0.04536	.	0.04473	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1230	330929	2	11965541	A	G	284019	Benign	Acute_Recurrent_Myoglobinuria	.	.	0.69489	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1231	330932	2	11965814	C	T	283783	Likely_benign	Acute_Recurrent_Myoglobinuria	.	.	0.11641	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1232	330933	2	11965998	AG	A	283789	Likely_benign	Acute_Recurrent_Myoglobinuria	.	.	0.01897	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1233	330940	2	11966317	T	C	283806	Benign	Acute_Recurrent_Myoglobinuria	.	.	0.23123	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1234	330957	2	11967219	G	T	282373	Uncertain_significance	Acute_Recurrent_Myoglobinuria	.	.	0.00579	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1235	333371	2	20130145	T	G	286855	Benign/Likely_benign	Short_Rib_Polydactyly_Syndrome|Cranioectoderma...	0.0938	0.11481	0.14297	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1236	167846	2	20131184	C	A	178154	Benign	Short_Rib_Polydactyly_Syndrome|Cranioectoderma...	0.96455	0.98795	0.96486	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1237	256877	2	20135283	T	C	250472	Benign	Short_Rib_Polydactyly_Syndrome|Cranioectoderma...	0.42973	.	0.51078	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1238	333407	2	20189015	T	C	283829	Benign/Likely_benign	Short_Rib_Polydactyly_Syndrome|Multiple_Epiphy...	0.06543	0.10651	0.11861	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1239	256876	2	20189089	C	T	250473	Benign	not_specified	0.56812	0.54681	0.6216	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1240	333410	2	20192696	G	A	284474	Benign	Short_Rib_Polydactyly_Syndrome|Multiple_Epiphy...	.	.	0.50919	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1241	258646	2	20194036	G	C	250475	Benign	not_specified	0.42046	0.51581	0.50939	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1242	195170	2	20205680	C	T	192331	Benign	Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp...	0.42997	0.48371	0.52436	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1243	195169	2	20205848	G	A	192330	Benign	Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp...	0.43688	0.47539	0.52476	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1244	128418	2	21225281	C	T	133867	Benign/Likely_benign	Familial_hypercholesterolemia|Familial_hyperch...	0.80297	0.70574	0.62959	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1245	128425	2	21232195	G	A	133874	Benign/Likely_benign	Familial_hypercholesterolemia|Familial_hyperch...	0.41389	0.38994	0.251	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1246	128424	2	21232803	TG	CA	133873	Benign/Likely_benign	Familial_hypercholesterolemia|Familial_hyperch...	0.39597	0.38914	0.2492	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1247	335352	2	25383887	G	A	289041	Likely_benign	Proopiomelanocortin_deficiency|Monogenic_Non-S...	.	.	0.11562	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1248	706983	2	25565907	A	G	695137	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1249	335372	2	26413917	C	T	289069	Benign	Mitochondrial_trifunctional_protein_deficiency...	.	.	0.78754	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1250	676137	2	26415429	A	G	659109	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1251	676135	2	26416301	A	G	659032	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1252	676286	2	26417829	G	A	658940	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1253	676133	2	26420708	T	G	659072	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1254	681693	2	26420809	G	C	659036	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1255	673764	2	26424384	G	A	659116	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1256	681690	2	26438276	T	C	659121	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1257	681680	2	26460072	C	T	659080	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1258	335395	2	26467666	G	A	288705	Benign	Mitochondrial_trifunctional_protein_deficiency...	.	.	0.45727	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1259	676138	2	26476977	A	G	659125	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1260	92600	2	26477125	G	GACT	98508	Benign	Mitochondrial_trifunctional_protein_deficiency...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1261	335410	2	26512957	G	C	289128	Benign	Mitochondrial_trifunctional_protein_deficiency	.	.	0.71106	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1262	262566	2	26647277	T	G	250699	Benign	not_specified	0.78571	.	0.6234	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1263	402796	2	26667130	A	G	389516	Benign	not_specified	0.12525	0.18403	0.16114	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1264	262564	2	26667615	T	C	250700	Benign	not_specified	0.998	0.99933	0.9992	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1265	262565	2	26671544	A	G	250701	Benign	not_specified	0.67846	0.71572	0.53035	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1266	402797	2	26676322	A	G	389508	Benign	not_specified	0.99531	0.99832	0.99441	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1267	683011	2	26707593	T	A	659141	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1268	21864	2	26712561	C	T	34716	Benign/Likely_benign	Deafness,_autosomal_recessive_9|not_specified|...	0.08365	0.05546	0.05591	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1269	21836	2	26741961	G	A	34688	Benign/Likely_benign	Deafness,_autosomal_recessive_9|not_specified|...	0.36791	0.43498	0.26997	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1270	402999	2	26951449	G	A	389500	Benign	not_specified	0.97027	0.98929	0.96266	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1271	335473	2	27309659	A	C	288764	Benign	Fructosuria,_essential	.	.	0.54633	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1272	335500	2	27322636	TCA	T	285791	Likely_benign	Fructosuria,_essential	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1273	95736	2	27589810	T	C	101633	Benign	Leukoencephalopathy_with_vanishing_white_matte...	0.41589	0.3986	0.38339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1274	95738	2	27592423	C	T	101635	Benign	Leukoencephalopathy_with_vanishing_white_matte...	0.41581	0.39619	0.3784	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1275	335549	2	27600239	G	A	285839	Likely_benign	Retinitis_Pigmentosa,_Dominant	.	.	0.35204	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1276	379412	2	27667297	A	G	366599	Benign	not_specified	0.47909	0.4403	0.45407	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1277	379411	2	27676287	A	T	366532	Benign	not_specified	0.37583	0.38857	0.35363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1278	683620	2	27684957	T	C	659148	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1279	379410	2	27688601	C	T	366610	Benign	not_specified	0.47893	0.41865	0.45407	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1280	683618	2	27693485	T	C	659095	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1281	476042	2	27693802	G	C	451000	Conflicting_interpretations_of_pathogenicity	not_specified|not_provided	0.00523	0.00721	0.0028	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1282	667025	2	29001691	A	G	654284	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1283	335573	2	29284806	A	G	286629	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.92153	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1284	335575	2	29284981	T	C	288858	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.49541	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1285	335576	2	29285065	A	G	286632	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.8157	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1286	335578	2	29285150	T	C	289266	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.97844	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1287	335583	2	29285210	C	T	289296	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.50978	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1288	335584	2	29285254	C	T	288860	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.06929	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1289	335590	2	29285575	C	T	285857	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.59405	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1290	335591	2	29285631	A	G	285858	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.59445	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1291	335592	2	29285713	C	T	288868	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.58806	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1292	335599	2	29286072	G	A	286655	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.58007	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1293	335601	2	29286193	T	C	285864	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.6238	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1294	335605	2	29286364	C	T	288870	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.13299	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1295	335609	2	29286509	T	C	286672	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.36661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1296	335613	2	29286670	T	C	286673	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.36701	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1297	335621	2	29286905	G	T	286682	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.33506	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1298	335625	2	29287192	G	A	288899	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.13059	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1299	335627	2	29287227	TAA	CAG	289343	Uncertain_significance	Retinitis_Pigmentosa,_Recessive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1300	335635	2	29287708	C	T	285893	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.28404	0.26943	0.32708	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1301	287770	2	29294629	C	T	272007	Benign/Likely_benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.1753	0.17067	0.1248	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1302	287769	2	29294754	G	C	272006	Benign/Likely_benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.17511	0.17045	0.125	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1303	193145	2	29295016	A	G	190310	Benign/Likely_benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.30468	0.26936	0.33387	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1304	335662	2	29295676	G	A	288932	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.30412	0.2683	0.33167	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1305	335672	2	29296870	C	T	285944	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.16815	0.16567	0.11122	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1306	335674	2	29297068	C	T	286730	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.17319	0.17088	0.11661	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1307	335677	2	29415792	G	A	289362	Benign	Neuroblastoma_Susceptibility	.	.	0.99281	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1308	133472	2	29416572	T	C	137211	Benign	Hereditary_cancer-predisposing_syndrome|Neurob...	0.99031	0.99716	0.99221	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1309	676841	2	29419591	G	T	659127	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1310	676840	2	29436633	G	T	658978	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1311	676839	2	29437182	T	C	659162	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1312	259271	2	29446202	G	A	250717	Benign	Neuroblastoma_3|not_specified|Neuroblastoma_Su...	0.26634	0.28956	0.17652	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1313	259268	2	29455267	A	G	250719	Benign	Hereditary_cancer-predisposing_syndrome|Neurob...	0.66139	0.6121	0.5	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1314	676804	2	29541104	C	T	659063	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1315	259266	2	29543663	T	C	250720	Benign	Hereditary_cancer-predisposing_syndrome|Neurob...	0.79094	.	0.77656	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1316	259274	2	29940529	A	T	250722	Benign	Hereditary_cancer-predisposing_syndrome|Neurob...	0.62702	.	0.58926	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1317	259269	2	30143499	G	C	250724	Benign	Hereditary_cancer-predisposing_syndrome|Neurob...	0.90929	0.89495	0.89377	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1318	335749	2	31558115	AAG	A	286785	Likely_benign	Xanthinuria	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1319	191300	2	31570376	T	C	189103	Benign	Xanthinuria|Deficiency_of_xanthine_oxidase|Xan...	0.75173	0.77846	0.77736	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1320	255969	2	31571241	G	C	250726	Benign	Xanthinuria|not_specified	0.74297	0.77612	0.76837	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1321	255968	2	31571786	A	G	250727	Benign	Xanthinuria|not_specified	0.77295	0.78635	0.79992	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1322	801659	2	31572482	T	TG	790228	Benign	Xanthinuria_type_2	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1323	97419	2	31749714	C	T	103311	Benign	3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de...	.	.	0.16693	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1324	335803	2	31749993	T	C	286076	Likely_benign	3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de...	.	.	0.01458	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1325	335811	2	31751042	T	A	286098	Likely_benign	3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de...	.	.	0.01458	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1326	97403	2	31805675	A	G	103295	Benign	not_specified|not_provided	0.70131	0.68441	0.64237	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1327	97400	2	31805706	G	C	103292	Benign	not_specified|not_provided	0.72447	0.69991	0.65216	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1328	97386	2	31806031	C	G	103278	Benign	3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_de...	.	.	0.64038	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1329	671069	2	32288478	C	A	659068	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1330	684075	2	32340482	C	G	659179	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1331	684076	2	32353188	T	C	659185	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1332	667494	2	32370344	C	T	659029	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1333	335865	2	32381110	T	G	289568	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.33786	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1334	335875	2	32381715	G	C	289215	Likely_benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.0028	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1335	335876	2	32381727	A	AAGG	286164	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1336	335878	2	32381829	G	A	286168	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.48003	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1337	335879	2	32381883	G	A	286173	Likely_benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.003	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1338	783022	2	32656153	C	T	708246	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1339	783023	2	32689842	C	T	708251	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1340	783024	2	32702561	G	A	708252	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1341	783116	2	32774505	C	T	708254	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1342	783117	2	32819010	G	A	708255	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1343	236028	2	33682737	G	T	237595	association	Lip_and_oral_cavity_carcinoma	.	.	0.64337	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1344	790641	2	36704117	C	T	708265	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1345	335967	2	39209047	A	G	289323	Likely_benign	Gingival_fibromatosis|Noonan_syndrome	.	.	0.7476	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1346	335973	2	39209426	A	G	286987	Likely_benign	Gingival_fibromatosis|Noonan_syndrome	.	.	0.74661	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1347	335979	2	39210398	A	T	289331	Likely_benign	Gingival_fibromatosis|Noonan_syndrome	.	.	0.89956	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1348	212289	2	39210719	T	TTA	207000	Likely_benign	Gingival_fibromatosis|Noonan_syndrome|not_spec...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1349	335987	2	39211121	T	C	289686	Likely_benign	Gingival_fibromatosis|Noonan_syndrome	.	.	0.76218	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1350	212288	2	39211358	TA	T	207001	Likely_benign	Gingival_fibromatosis|Noonan_syndrome|not_spec...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1351	336010	2	39212565	T	TTG	287026	Likely_benign	Gingival_fibromatosis|Noonan_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1352	336011	2	39212637	T	C	289730	Likely_benign	Gingival_fibromatosis|Noonan_syndrome	.	.	0.52336	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1353	561358	2	39216697	TA	T	552503	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1354	561828	2	39216773	T	C	552504	Benign	not_provided	.	.	0.74401	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1355	259848	2	39224351	G	T	250731	Benign	not_specified	0.946	0.91882	0.90016	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1356	259847	2	39224615	G	GT	250733	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1357	561381	2	39224637	G	A	552509	Likely_benign	not_provided	.	.	0.00659	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1358	180170	2	39233500	G	A	178349	Benign	Noonan_syndrome	.	.	0.90515	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1359	40708	2	39233584	C	T	49178	Benign	Rasopathy|not_specified|not_provided	0.00054	0.00067	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1360	561380	2	39234432	G	C	552512	Likely_benign	not_provided	.	.	0.00659	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1361	561827	2	39249409	C	G	552519	Benign	not_provided	.	.	0.72983	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1362	561826	2	39250673	A	G	552527	Benign	not_provided	.	.	0.72943	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1363	561825	2	39262068	C	T	552528	Benign	not_provided	.	.	0.89956	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1364	561372	2	39278066	C	T	552534	Benign	not_provided	.	.	0.89417	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1365	180179	2	39281730	G	C	178351	Benign	Noonan_syndrome|not_specified	0.93735	0.90141	0.89137	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1366	561824	2	39285551	TAAAC	T	552538	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1367	336080	2	44101538	C	T	286334	Benign	Sitosterolemia|not_specified	.	0.67334	0.76498	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1368	336112	2	44114074	G	A	287094	Benign	Leigh_syndrome	.	.	0.60064	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1369	684334	2	44116100	C	T	659202	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1370	671284	2	44128912	C	T	659221	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1371	684327	2	44139986	G	A	659210	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1372	671279	2	44145799	C	T	659128	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1373	684311	2	44190392	C	T	659268	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1374	336184	2	44502788	A	C	286471	Benign	Cystinuria	0.77887	0.73275	0.70347	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1375	167690	2	45171842	A	G	178072	Benign	not_specified|not_provided	0.93688	0.92145	0.9375	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1376	336258	2	46603671	C	G	287200	Benign	Familial_erythrocytosis	0.42911	.	0.3125	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1377	336293	2	46612326	GTT	G	286566	Benign	Familial_erythrocytosis	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1378	528477	2	47233120	C	T	518362	Likely_benign	not_provided	0.00038	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1379	678452	2	47390026	C	T	659070	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1380	683290	2	47390058	T	C	659303	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1381	676950	2	47643191	C	G	659157	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1382	36564	2	47656801	G	A	45226	Benign	Lynch_syndrome	.	.	0.59365	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1383	90598	2	47663845	G	A	96073	Benign	Lynch_syndrome	.	.	0.59924	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1384	90607	2	47666838	T	C	96082	Benign	Lynch_syndrome	.	.	0.08247	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1385	90609	2	47671742	A	C	96084	Benign	Lynch_syndrome	.	.	0.60124	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1386	90599	2	47672569	G	A	96074	Benign	Lynch_syndrome|not_provided	.	.	0.79473	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1387	90687	2	47692281	C	T	96162	Benign	Lynch_syndrome	.	.	0.55671	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1388	90846	2	47703241	A	G	96321	Benign	Lynch_syndrome	.	.	0.55192	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1389	676471	2	47703379	C	T	659239	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1390	676957	2	47703885	G	A	659163	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1391	90924	2	47704027	G	C	96399	Benign	Lynch_syndrome	.	.	0.96246	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1392	41867	2	47739551	A	G	50306	Benign	not_specified|not_provided	0.42919	0.45795	0.52795	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1393	36581	2	48010488	G	A	45243	Benign	Hereditary_cancer-predisposing_syndrome|Lynch_...	0.17965	.	0.20088	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1394	89294	2	48012846	C	T	94768	Benign	Lynch_syndrome	.	.	0.29433	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1395	89521	2	48019485	T	C	94995	Benign	Lynch_syndrome	.	.	0.16953	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1396	676475	2	48022900	A	G	659241	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1397	89532	2	48022981	G	T	95006	Benign	Lynch_syndrome	0.22616	.	0.22444	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1398	89544	2	48024876	C	T	95018	Benign	Lynch_syndrome	.	.	0.73782	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1399	89345	2	48030458	G	C	94819	Benign	Lynch_syndrome|not_specified	.	.	0.82248	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1400	42471	2	48030838	A	T	51641	Benign	Hereditary_cancer-predisposing_syndrome|Lynch_...	0.31462	0.40426	0.40096	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1401	89410	2	48032312	G	A	94884	Benign	Lynch_syndrome	.	.	0.67232	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1402	595919	2	48032613	G	A	586980	Benign	not_specified	.	.	0.76957	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1403	89429	2	48032874	ACTAT	A	94903	Benign	Lynch_syndrome|not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1404	89432	2	48032937	T	C	94906	Benign	Lynch_syndrome|not_specified	.	.	0.8143	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1405	36594	2	48033551	C	G	45256	Benign	Lynch_syndrome|Hereditary_nonpolyposis_colorec...	0.78722	0.74265	0.80911	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1406	336454	2	48914615	C	G	286696	Benign	Hypergonadotropic_hypogonadism|Leydig_cell_age...	.	.	0.16274	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1407	255607	2	48915871	A	G	250744	Benign	Hypergonadotropic_hypogonadism|Leydig_cell_age...	0.49669	0.60263	0.59225	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1408	255609	2	48921375	T	C	250745	Benign	Hypergonadotropic_hypogonadism|Leydig_cell_age...	0.49122	0.63762	0.59105	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1409	255608	2	48925746	C	T	250746	Benign	Hypergonadotropic_hypogonadism|Leydig_cell_age...	0.85238	0.76565	0.73742	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1410	137403	2	49381585	C	T	141106	Benign	Ovarian_hyperstimulation_syndrome|Ovarian_dysg...	0.25911	0.31602	0.34505	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1411	336515	2	50147171	C	A	290280	Benign	Pitt-Hopkins-like_syndrome	.	.	0.22724	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1412	336528	2	50148111	A	AAAGT	289874	Benign	Pitt-Hopkins-like_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1413	667709	2	50149510	A	G	659168	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1414	675103	2	50170729	G	C	659254	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1415	801713	2	50201110	A	G	790282	Benign	Pitt-Hopkins-like_syndrome_2	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1416	667731	2	50463700	G	A	659349	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1417	667707	2	50463701	A	G	659112	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1418	667711	2	50692459	T	A	659118	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1419	667708	2	50699205	C	A	659183	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1420	667706	2	50699305	T	A	659189	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1421	667704	2	50699758	C	T	659194	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1422	667536	2	50699890	T	C	659273	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1423	667703	2	50733958	T	C	659285	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1424	667702	2	50766007	T	A	659287	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1425	670683	2	50780219	T	G	659288	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1426	667697	2	50780392	G	A	659135	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1427	668651	2	50848056	G	GC	659149	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1428	667699	2	51148872	T	A	659203	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1429	674918	2	51254538	C	G	659212	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1430	93603	2	51254901	G	A	99507	Benign	History_of_neurodevelopmental_disorder|Pitt-Ho...	0.17402	0.13058	0.21306	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1431	683578	2	55870827	A	G	659152	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1432	138739	2	55872538	T	C	142442	Benign	not_specified|not_provided	0.15711	0.08282	0.14756	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1433	138738	2	55873385	C	G	142441	Benign	not_specified|not_provided	0.20321	0.12979	0.19848	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1434	683569	2	55874811	C	T	659161	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1435	671592	2	55881816	C	T	659375	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1436	671591	2	55883713	C	A	659246	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1437	671588	2	55889062	G	A	659301	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1438	671576	2	55889454	G	A	659252	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1439	669542	2	55889466	G	A	659169	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1440	683568	2	55894428	G	A	659302	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1441	683567	2	55895321	T	C	659253	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1442	683564	2	55898929	A	G	659395	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1443	671587	2	55899228	A	T	659404	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1444	516898	2	55900231	G	GA	500091	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1445	683552	2	55910710	T	C	659262	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1446	671575	2	55913271	AT	A	659184	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1447	257227	2	56098272	G	A	250749	Benign	Doyne_honeycomb_retinal_dystrophy|not_specified	0.05367	0.05339	0.03774	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1448	257495	2	58388696	A	G	250750	Benign	Fanconi_anemia|not_specified|not_provided	0.70409	0.64866	0.70647	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1449	336653	2	58388708	C	T	287621	Conflicting_interpretations_of_pathogenicity	Fanconi_anemia|not_provided	.	4e-05	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1450	257494	2	58431410	G	C	250751	Benign	not_specified	0.14724	0.12604	0.17672	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1451	127265	2	60720246	C	T	132722	Benign	Fetal_hemoglobin_quantitative_trait_locus_5|In...	.	.	0.48323	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1452	336670	2	61275771	C	G	287662	Conflicting_interpretations_of_pathogenicity	Peroxisome_biogenesis_disorder_11A|Peroxisome_...	0.02745	0.02407	0.01138	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1453	336677	2	61276263	G	A	287682	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.99521	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1454	336685	2	61276857	C	T	290432	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.30391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1455	336687	2	61277099	G	A	286893	Likely_benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.07628	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1456	336699	2	61278052	A	G	290089	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.61601	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1457	336715	2	62052380	A	G	290453	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	0.39734	0.47644	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1458	336727	2	62053290	A	G	290460	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	0.39968	0.47604	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1459	96217	2	62066927	A	G	102111	Benign	Retinitis_pigmentosa_28|not_specified|Retiniti...	0.97983	0.97589	0.97963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1460	336744	2	62069358	T	C	287722	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.16808	0.18292	0.16014	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1461	193466	2	62081012	A	C	190630	Benign	not_specified	0.97971	0.97594	0.97943	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1462	336747	2	62081217	A	G	290124	Benign	Retinitis_Pigmentosa,_Recessive	0.98149	0.9746	0.97943	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1463	336760	2	63380675	C	A	290503	Uncertain_significance	Bardet-Biedl_syndrome	0.00017	0.00015	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1464	95744	2	63486429	C	T	101641	Benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.6229	0.60528	0.76378	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1465	193387	2	63815393	A	G	190551	Uncertain_significance	not_provided	.	0.00039	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1466	156571	2	68445313	ATTAAT	A	166380	not_provided	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1467	336784	2	69547236	G	C	290135	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.65535	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1468	336790	2	69547919	C	CA	286996	Uncertain_significance	Congenital_Myasthenic_Syndrome,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1469	336797	2	69548320	C	T	290546	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.65875	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1470	336799	2	69548495	T	G	287017	Likely_benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.10443	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1471	336801	2	69548591	C	T	290139	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.63858	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1472	336807	2	69549262	T	C	287799	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.64756	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1473	336818	2	69550036	T	C	290161	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.65875	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1474	336821	2	69550230	T	G	290554	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.64756	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1475	336823	2	69550256	C	T	290555	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.66354	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1476	336829	2	69550652	G	A	290560	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.63838	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1477	336839	2	69551011	T	C	290180	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.63838	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1478	336840	2	69551052	T	C	290192	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.64936	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1479	336859	2	69552521	C	A	287821	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.63818	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1480	336873	2	69553375	GA	G	290634	Uncertain_significance	Congenital_Myasthenic_Syndrome,_Recessive	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1481	673466	2	69556144	A	C	659425	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1482	681723	2	69565345	T	C	659186	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1483	257667	2	69565563	TA	T	250761	Benign/Likely_benign	not_specified|Congenital_Myasthenic_Syndrome,_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1484	129151	2	69573029	T	C	134597	Benign	not_specified|Congenital_Myasthenic_Syndrome,_...	0.67541	.	0.64717	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1485	681308	2	69573273	T	C	659431	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1486	681306	2	69583422	G	A	659190	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1487	681305	2	69583896	A	G	659281	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1488	682687	2	69585176	A	G	659283	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1489	681304	2	69586293	A	C	659432	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1490	258543	2	69586370	A	G	250762	Benign	not_specified|not_provided	0.30986	.	0.24401	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1491	672059	2	69601502	G	A	659331	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1492	682685	2	69613926	T	C	659197	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1493	681303	2	69613958	A	G	659347	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1494	258544	2	69614161	A	G	250765	Benign	not_specified|not_provided	0.69197	0.60925	0.65655	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1495	671562	2	69627919	G	A	659200	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1496	683210	2	69633382	A	T	659216	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1497	683209	2	69642615	G	A	659307	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1498	683208	2	69646504	G	A	659223	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1499	669524	2	69646950	C	T	659308	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1500	673395	2	69650445	T	A	659229	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1501	669523	2	69650527	C	T	659238	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1502	138516	2	69659126	A	T	142219	Benign	Multiple_mitochondrial_dysfunctions_syndrome|n...	0.37721	0.39284	0.31709	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1503	669522	2	69659402	T	A	659354	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1504	672905	2	69664921	A	T	659445	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1505	669521	2	69664976	C	T	659244	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1506	336905	2	71004492	TCA	CCT	287838	Uncertain_significance	Premature_ovarian_failure	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1507	336907	2	71012604	G	A	287106	Benign	Premature_ovarian_failure	0.67501	0.64793	0.79772	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1508	336909	2	71012734	C	G	290660	Benign	Premature_ovarian_failure	0.62669	0.62314	0.76298	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1509	369346	2	71162996	A	G	353575	Benign	Renal_tubular_acidosis_with_progressive_nerve_...	.	.	0.53035	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1510	44228	2	71163086	T	C	53395	Benign	Renal_tubular_acidosis_with_progressive_nerve_...	0.41504	0.40949	0.36881	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1511	44231	2	71163173	C	T	53398	Benign	Renal_tubular_acidosis_with_progressive_nerve_...	0.15854	0.18018	0.15855	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1512	44222	2	71190384	C	T	53389	Benign	Renal_tubular_acidosis_with_progressive_nerve_...	0.3583	0.46902	0.4375	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1513	138182	2	71351487	G	A	141885	Benign	Methylmalonic_acidemia|not_specified	0.27364	0.30564	0.18251	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1514	668890	2	71730055	G	A	659459	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1515	677301	2	71743562	G	T	659475	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1516	668122	2	71743640	T	C	659332	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1517	679370	2	71747235	A	G	659484	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1518	679411	2	71747432	G	T	659333	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1519	679412	2	71747568	G	T	659385	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1520	679413	2	71747723	C	G	659260	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1521	679414	2	71747851	T	C	659264	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1522	94368	2	71747899	G	A	100268	Benign	not_specified	0.49608	0.47554	0.36781	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1523	259065	2	71755380	A	G	250776	Benign	not_specified|not_provided	0.84669	0.74658	0.65635	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1524	94268	2	71762232	C	T	100168	Benign	not_specified|Miyoshi_myopathy|Limb-Girdle_Mus...	0.62894	0.58456	0.45767	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1525	679416	2	71762310	A	G	659271	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1526	679418	2	71766487	G	A	659391	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1527	679421	2	71779032	G	A	659512	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1528	668124	2	71779853	T	C	659346	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1529	94281	2	71780215	T	C	100181	Benign	not_specified|Miyoshi_myopathy|Limb-Girdle_Mus...	0.73489	0.64302	0.57548	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1530	679422	2	71780821	T	C	659517	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1531	668895	2	71782764	C	G	659300	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1532	94290	2	71795152	A	T	100190	Benign	not_specified|Miyoshi_myopathy|Limb-Girdle_Mus...	0.71621	0.60416	0.55052	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1533	679423	2	71796865	C	G	659352	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1534	679425	2	71797176	A	C	659361	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1535	681362	2	71801267	G	C	659522	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1536	679986	2	71816602	G	C	659309	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1537	679987	2	71817003	A	G	659529	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1538	668126	2	71825438	G	C	659402	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1539	679992	2	71826102	C	T	659382	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1540	668898	2	71827555	C	T	659403	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1541	679993	2	71828423	A	T	659389	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1542	679994	2	71829821	G	T	659393	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1543	94316	2	71838597	C	A	100216	Benign	not_specified|Miyoshi_myopathy|Limb-Girdle_Mus...	0.47155	0.50146	0.44948	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1544	679995	2	71847943	C	A	659396	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1545	679996	2	71871039	A	G	659415	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1546	259080	2	71871236	A	G	250790	Benign	not_specified|not_provided	0.88967	0.85937	0.83826	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1547	668127	2	71889101	A	G	659320	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1548	668128	2	71889156	C	G	659420	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1549	679998	2	71891236	C	T	659426	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1550	259081	2	71891361	C	T	250791	Benign	not_specified|not_provided	0.81163	0.82018	0.74481	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1551	680001	2	71897075	A	G	659428	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1552	259082	2	71901286	C	T	250792	Benign	not_specified|not_provided	0.78003	0.80685	0.72804	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1553	94346	2	71906171	T	C	100246	Benign	not_specified	0.92304	0.88508	0.8782	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1554	680008	2	71907930	G	T	659435	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1555	383755	2	73613341	G	A	367793	Benign	not_specified	0.227	.	0.2512	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1556	383767	2	73650122	T	A	366927	Benign	not_specified	0.50278	0.60331	0.53275	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1557	383753	2	73651967	C	T	367798	Benign	not_specified|not_provided	0.39451	.	0.36362	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1558	504918	2	73675669	T	G	496235	Benign	not_specified|not_provided	0.88057	0.86273	0.8722	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1559	383768	2	73675844	C	T	366940	Benign	Alstrom_syndrome|not_specified|not_provided	0.49481	0.59909	0.52636	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1560	383757	2	73677833	A	G	366999	Benign	not_specified|not_provided	0.37194	0.26088	0.33826	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1561	379229	2	73677898	G	C	366959	Benign	not_specified|not_provided	0.39457	0.26813	0.36362	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1562	383758	2	73679280	A	G	366730	Benign	not_specified|not_provided	0.39125	0.26759	0.35883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1563	383769	2	73679866	T	C	367864	Benign	not_specified|not_provided	0.14038	0.14322	0.10363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1564	383759	2	73679990	T	A	367014	Benign	not_specified|not_provided	0.39536	0.2699	0.36382	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1565	383760	2	73680508	G	C	367891	Benign	Alstrom_syndrome|not_specified|not_provided	0.39545	.	0.36442	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1566	383761	2	73717567	G	T	366982	Benign	not_specified|not_provided	0.39	0.26628	0.35823	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1567	383762	2	73717656	A	G	366756	Benign	not_specified|not_provided	0.39136	0.26613	0.35823	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1568	683047	2	73746643	T	C	659450	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1569	383763	2	73746923	C	T	366758	Benign	not_specified|not_provided	0.30375	0.21691	0.25679	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1570	677826	2	73761881	G	A	659586	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1571	677827	2	73762236	A	G	659590	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1572	669780	2	73762385	G	A	659453	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1573	393379	2	73777400	A	G	380199	Benign	Monogenic_diabetes|not_specified|not_provided	0.00315	0.00597	0.00719	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1574	383770	2	73828310	T	C	367006	Benign	not_specified	0.51501	0.62443	0.55292	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1575	383764	2	73828538	G	A	367925	Benign	not_specified|not_provided	0.53661	0.63338	0.58227	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1576	383765	2	73829372	C	T	367049	Benign	not_specified|not_provided	0.39359	0.26358	0.34165	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1577	677830	2	73829678	C	T	659337	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1578	337039	2	73837006	T	A	287232	Likely_benign	Alstrom_syndrome	.	.	0.10523	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1579	160040	2	74087290	T	C	168077	Likely_benign	not_specified	0.22913	0.17761	0.15855	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1580	160041	2	74087298	A	G	168078	Likely_benign	not_specified	0.08327	0.08837	0.15955	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1581	679277	2	74165856	G	A	659468	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1582	679278	2	74173656	A	C	659351	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1583	679279	2	74178080	T	C	659474	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1584	683414	2	74369151	A	T	659357	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1585	683413	2	74371995	G	A	659479	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1586	683410	2	74372678	A	C	659486	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1587	683407	2	74374641	C	T	659365	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1588	95359	2	74692191	C	T	101258	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.0416	0.05642	0.01737	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1589	337133	2	74758151	T	C	290711	Uncertain_significance	Parkinson_Disease,_Dominant	.	1e-05	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1590	337149	2	84650707	A	G	290971	Benign	Mitochondrial_DNA_depletion_syndrome|Mitochond...	.	.	0.80212	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1591	684111	2	84660240	G	A	659367	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1592	684110	2	84667864	C	T	659624	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1593	684109	2	84677140	A	G	659503	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1594	669574	2	84686757	A	G	659373	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1595	402731	2	84756049	G	A	389523	Benign	not_specified	0.92357	0.94875	0.94469	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1596	402732	2	84771480	G	A	389519	Benign	not_specified	0.91126	0.94393	0.92951	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1597	402733	2	84771567	C	T	389526	Benign	not_specified	0.80929	0.88362	0.81669	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1598	402734	2	84800605	C	A	389530	Benign	not_specified	0.90881	0.94655	0.92971	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1599	402738	2	84880445	G	C	389544	Benign	not_specified	0.11569	0.16296	0.09924	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1600	402740	2	84897517	A	G	389532	Benign	not_specified	0.96252	0.97327	0.98223	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1601	402742	2	84924823	T	C	389535	Benign	not_specified	0.15396	0.14771	0.11681	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1602	402745	2	85023554	A	G	389533	Benign	not_specified	0.21529	0.18716	0.21206	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1603	402746	2	85024731	C	T	389548	Benign	not_specified	0.11892	0.114	0.10423	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1604	508141	2	85617327	C	T	499965	Benign	not_specified	0.06066	0.04874	0.04273	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1605	508142	2	85617579	C	T	500383	Benign	not_specified	0.06066	0.049	0.04273	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1606	674848	2	85766545	C	T	659381	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1607	674698	2	85769246	G	A	659638	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1608	381190	2	85769711	C	G	367044	Benign	not_specified	0.53306	0.4529	0.49281	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1609	674849	2	85769975	A	G	659516	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1610	337176	2	85772478	C	T	288088	Uncertain_significance	Vitamin_K-Dependent_Clotting_Factors	.	.	0.01078	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1611	337179	2	85772548	C	T	287342	Benign	Vitamin_K-Dependent_Clotting_Factors	.	.	0.49361	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1612	337185	2	85773061	A	G	291027	Benign	Vitamin_K-Dependent_Clotting_Factors	.	.	0.53015	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1613	337190	2	85773252	T	C	290804	Benign	Vitamin_K-Dependent_Clotting_Factors	.	.	0.10763	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1614	337198	2	85773539	T	TAA	287354	Uncertain_significance	Vitamin_K-Dependent_Clotting_Factors	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1615	337203	2	85773654	C	CTG	290806	Benign	Vitamin_K-Dependent_Clotting_Factors	.	.	0.51018	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1616	337204	2	85773659	A	G	288100	Benign	Vitamin_K-Dependent_Clotting_Factors	.	.	0.28594	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1617	337217	2	85774676	G	A	288159	Benign	Vitamin_K-Dependent_Clotting_Factors	.	.	0.49361	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1618	337238	2	85776276	T	G	291057	Uncertain_significance	Vitamin_K-Dependent_Clotting_Factors	.	.	0.00759	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1619	337243	2	85776490	C	CTTTA	291059	Benign	Vitamin_K-Dependent_Clotting_Factors	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1620	337266	2	85780131	G	A	291091	Benign	Vitamin_K-Dependent_Clotting_Factors	0.30255	0.26606	0.28594	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1621	337268	2	85780536	C	T	291110	Benign	Vitamin_K-Dependent_Clotting_Factors	0.41919	0.31979	0.3778	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1622	337275	2	85786074	G	A	290862	Likely_benign	Vitamin_K-Dependent_Clotting_Factors	0.05005	0.03149	0.03994	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1623	263205	2	85890771	T	G	250817	Benign	not_specified	0.9362	0.93652	0.97484	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1624	165204	2	85893741	G	A	173673	Benign	not_specified|Pulmonary_Surfactant_Metabolism_...	0.59888	0.50372	0.51997	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1625	165206	2	85894308	G	T	173674	Benign	not_specified|Pulmonary_Surfactant_Metabolism_...	0.28287	0.3553	0.29693	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1626	165208	2	85895338	T	G	173675	Benign	not_specified|Pulmonary_Surfactant_Metabolism_...	0.3511	0.42543	0.41853	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1627	130382	2	86088311	T	C	135829	Benign	Salt_and_pepper_developmental_regression_syndr...	0.15677	0.22251	0.20907	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1628	337344	2	86441303	A	C	288254	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.3736	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1629	337345	2	86441334	C	CTGTT	287482	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.373	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1630	669113	2	86478869	A	C	659639	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1631	130108	2	86481835	C	T	135554	Benign	Spastic_paraplegia_31,_autosomal_dominant|not_...	0.37183	0.46734	0.42871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1632	669110	2	86509079	T	C	659438	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1633	128986	2	88874891	C	A	134433	Benign	Wolcott-Rallison_dysplasia|not_specified	0.80171	0.70206	0.72065	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1634	128984	2	88882942	T	A	134431	Benign	Wolcott-Rallison_dysplasia|not_specified	0.23942	0.25415	0.20427	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1635	128988	2	88895123	T	C	134435	Benign	Wolcott-Rallison_dysplasia|not_specified	0.73474	0.63792	0.64896	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1636	128987	2	88913273	G	C	134434	Benign	Wolcott-Rallison_dysplasia|not_specified	0.19837	0.29828	0.28055	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1637	337424	2	88926964	G	A	291074	Likely_benign	Wolcott-Rallison_dysplasia	.	.	0.01577	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1638	337440	2	89050126	T	G	288313	Benign	Deficiency_of_ribose-5-phosphate_isomerase	.	.	0.1895	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1639	337472	2	96917588	T	G	291107	Benign	Pheochromocytoma	.	.	0.61641	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1640	677140	2	96931846	T	C	659408	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1641	337536	2	96944553	G	A	291176	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.25196	0.30971	0.24601	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1642	337548	2	96952833	A	G	291356	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.23566	0.31901	0.28414	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1643	337642	2	98356250	G	C	291334	Benign	Severe_Combined_Immune_Deficiency	.	.	0.14876	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1644	48327	2	105979730	C	A	57489	Benign	not_specified	0.3117	.	0.27736	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1645	261428	2	108608648	A	G	250078	Benign	not_specified	0.06351	0.08416	0.07608	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1646	261429	2	108618514	C	T	250079	Benign	not_specified	0.1251	0.1128	0.14417	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1647	380029	2	109374952	A	G	365325	Benign	not_specified|not_provided	0.30829	0.2604	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1648	330683	2	109510937	G	A	283642	Benign	Hypohidrotic_Ectodermal_Dysplasia,_Dominant	.	.	0.53175	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1649	330688	2	109511765	A	G	283656	Benign	Hypohidrotic_Ectodermal_Dysplasia,_Dominant	.	.	0.66993	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1650	330694	2	109512234	T	C	283660	Benign	Hypohidrotic_Ectodermal_Dysplasia,_Dominant	.	.	0.72085	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1651	155862	2	109513321	C	A	165611	Benign	Hypohidrotic_Ectodermal_Dysplasia,_Dominant|no...	0.85897	0.90665	0.88299	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1652	155865	2	109513654	G	A	165614	Benign	not_specified|Hypohidrotic_Ectodermal_Dysplasi...	0.69929	0.81027	0.71186	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1653	155864	2	109522720	G	A	165613	Uncertain_significance	not_provided	0.68276	0.79503	0.67432	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1654	155870	2	109526969	G	A	165619	Benign	not_specified|Hypohidrotic_Ectodermal_Dysplasi...	0.89628	0.91697	0.92133	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1655	155869	2	109527087	G	A	165618	Uncertain_significance	not_provided	.	.	0.66554	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1656	155867	2	109527373	A	G	165616	Uncertain_significance	not_provided	0.90558	0.91901	0.92752	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1657	255705	2	110919321	C	T	250088	Benign	not_specified	0.28099	0.36133	0.378	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1658	92719	2	110922703	C	T	98626	Benign	Nephronophthisis|Joubert_syndrome|Renal_dyspla...	0.37883	0.37931	0.47444	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1659	330746	2	112705157	T	C	283717	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.58465	0.58446	0.51478	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1660	330754	2	112751928	G	A	281580	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.63402	0.59717	0.5615	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1661	330759	2	112755001	A	G	282252	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.63394	0.59732	0.5615	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1662	330762	2	112765973	A	G	281586	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.58781	0.58245	0.51518	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1663	330766	2	112776979	C	A	282254	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.29994	.	0.29693	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1664	330770	2	112786523	A	AT	283784	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1665	770130	2	113258916	C	T	696975	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1666	14671	2	113594387	G	A	29710	risk_factor	Gastric_cancer_susceptibility_after_h._pylori_...	.	.	0.47244	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1667	767816	2	113671410	A	G	696980	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1668	330783	2	113820476	T	C	283604	Benign	Pustular_psoriasis,_generalized	.	.	0.71526	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1669	330784	2	113820530	A	G	283793	Benign	Pustular_psoriasis,_generalized	.	.	0.71546	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1670	330787	2	113820580	C	A	283612	Benign	Pustular_psoriasis,_generalized	.	.	0.71546	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1671	330789	2	113820655	A	T	282259	Benign	Pustular_psoriasis,_generalized	.	.	0.71506	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1672	330790	2	113820672	A	G	283794	Benign	Pustular_psoriasis,_generalized	.	.	0.71506	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1673	330791	2	113820732	T	C	282260	Benign	Pustular_psoriasis,_generalized	.	.	0.71526	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1674	330792	2	113820814	C	G	283621	Benign	Pustular_psoriasis,_generalized	.	.	0.71526	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1675	330796	2	113821117	C	T	283623	Benign	Pustular_psoriasis,_generalized	.	.	0.86981	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1676	330798	2	113821200	T	C	281597	Benign	Pustular_psoriasis,_generalized	.	.	0.71526	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1677	330802	2	113821653	T	C	281598	Benign	Pustular_psoriasis,_generalized	.	.	0.71526	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1678	537717	2	113887483	C	T	516358	Benign	not_provided	.	.	0.25459	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1679	330827	2	113890304	T	C	283875	Benign	Osteomyelitis,_sterile_multifocal,_with_perios...	0.33315	.	0.35004	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1680	330832	2	113890586	C	G	281620	Benign	Osteomyelitis,_sterile_multifocal,_with_perios...	.	.	0.35503	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1681	330853	2	113973632	G	A	281649	Likely_benign	Congenital_hypothyroidism	.	.	0.45567	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1682	330858	2	113973801	T	C	281655	Benign	Congenital_hypothyroidism	.	.	0.79433	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1683	330861	2	113973964	T	C	283928	Likely_benign	Congenital_hypothyroidism	.	.	0.45427	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1684	330864	2	113974196	G	C	282309	Likely_benign	Congenital_hypothyroidism	.	.	0.32488	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1685	330882	2	113975923	T	C	283980	Uncertain_significance	Congenital_hypothyroidism	.	.	0.02716	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1686	767819	2	120194651	A	AGTGTGC	696990	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1687	801743	2	121684663	C	G	790036	Benign	Holoprosencephaly_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1688	439758	2	121709091	G	A	433591	Benign	not_specified	.	.	0.9387	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1689	259731	2	121713022	C	G	250113	Benign	not_specified	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1690	259732	2	121713030	G	A	250114	Benign	not_specified	0.75413	0.92342	0.78594	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1691	259733	2	121713041	T	C	250115	Benign	not_specified	0.75577	0.92023	0.78594	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1692	259736	2	121726447	G	A	250118	Benign	Holoprosencephaly_sequence|not_specified	0.80924	0.94007	0.82728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1693	259709	2	121729490	C	T	250121	Benign	not_specified	0.86945	0.9558	0.8766	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1694	259710	2	121729686	T	C	250122	Benign	not_specified	0.86975	0.95722	0.877	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1695	259716	2	121740493	G	A	250127	Likely_benign	not_specified	0.01238	.	0.00539	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1696	259717	2	121740505	C	T	250128	Benign	not_specified	0.7718	0.90775	0.77975	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1697	259725	2	121744225	A	G	250136	Benign	not_specified	0.62981	0.64099	0.51957	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1698	95271	2	121746956	G	T	101170	Benign	Holoprosencephaly_sequence|not_specified	0.62341	0.6296	0.50899	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1699	95272	2	121747406	G	A	101171	Benign	Holoprosencephaly_sequence|not_specified	0.67687	0.64635	0.56709	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1700	95273	2	121747429	A	G	101172	Benign	Holoprosencephaly_sequence|not_specified	0.62408	0.63438	0.51238	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1701	331006	2	121749067	G	C	282392	Benign	Holoprosencephaly_sequence	.	.	0.50779	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1702	678269	2	127808226	A	T	658064	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1703	678268	2	127808532	G	A	658033	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1704	678267	2	127808909	G	A	658044	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1705	668877	2	127810697	C	T	658180	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1706	678266	2	127811042	G	A	658049	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1707	678252	2	127811712	G	GCA	658051	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1708	678251	2	127818021	C	T	658090	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1709	158019	2	127819777	C	T	167866	Benign/Likely_benign	Autosomal_recessive_centronuclear_myopathy|not...	0.10551	0.158	0.09724	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1710	678250	2	127821085	C	T	658219	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1711	678249	2	127821453	G	A	658105	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1712	158017	2	127821499	T	C	167864	Benign/Likely_benign	Autosomal_recessive_centronuclear_myopathy|not...	0.28718	0.37037	0.34525	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1713	678248	2	127821839	G	C	658221	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1714	678247	2	127825968	G	A	658224	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1715	678246	2	127826259	A	G	658056	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1716	678128	2	127826632	A	G	658106	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1717	678127	2	127833963	C	T	658110	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1718	678126	2	127834136	T	C	658058	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1719	680092	2	127834369	C	T	658230	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1720	678125	2	127834384	T	C	658231	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1721	678124	2	127834459	T	C	658067	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1722	678123	2	127834528	C	T	658233	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1723	668023	2	127834580	G	C	658202	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1724	255808	2	128176040	A	T	250153	Benign/Likely_benign	Thrombophilia,_hereditary,_due_to_protein_C_de...	.	0.45137	0.39317	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1725	255809	2	128180872	G	T	250154	Benign/Likely_benign	Thrombophilia,_hereditary,_due_to_protein_C_de...	0.72231	0.6343	0.64577	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1726	255810	2	128184770	T	C	250155	Benign/Likely_benign	Thrombophilia,_hereditary,_due_to_protein_C_de...	0.32408	0.28278	0.22983	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1727	260987	2	128400608	C	T	250158	Benign	not_specified	0.5064	0.60344	0.54513	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1728	475544	2	128415109	G	A	448571	Benign	not_provided	0.00161	.	0.0012	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1729	130064	2	135893372	A	G	135510	Benign	Warburg_micro_syndrome_1|Warburg_micro_syndrom...	0.11241	.	0.21446	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1730	130067	2	135911422	T	C	135513	Benign	Warburg_micro_syndrome_1|Warburg_micro_syndrom...	0.4907	0.51736	0.78674	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1731	331154	2	136545448	AAC	A	281844	Likely_benign	Lactose_intolerance|Congenital_lactase_deficiency	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1732	331159	2	136545844	C	G	281846	Benign	Lactose_intolerance|Congenital_lactase_deficiency	0.78787	0.7967	0.73962	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1733	331164	2	136546110	A	G	284145	Benign	Lactose_intolerance|Congenital_lactase_deficiency	0.63048	0.62146	0.44149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1734	331168	2	136555659	T	C	282507	Benign	Lactose_intolerance|Congenital_lactase_deficiency	0.61772	0.60581	0.44269	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1735	331172	2	136561557	G	A	281859	Benign	Lactose_intolerance|Congenital_lactase_deficiency	0.6956	0.7532	0.66014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1736	331201	2	136575157	C	T	281883	Uncertain_significance	Lactose_intolerance|Congenital_lactase_deficiency	0.00069	0.00063	0.0004	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1737	331202	2	136575199	G	T	284166	Benign	Lactose_intolerance|Congenital_lactase_deficiency	0.54114	0.55588	0.35603	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1738	331204	2	136575534	T	C	282521	Benign	Lactose_intolerance|Congenital_lactase_deficiency	0.9784	0.99435	0.97923	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1739	331207	2	136590746	C	T	281884	Benign	Lactose_intolerance|Congenital_lactase_deficiency	0.27026	.	0.35503	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1740	331210	2	136594158	G	A	281889	Benign	Lactose_intolerance|Congenital_lactase_deficiency	0.54229	0.54873	0.34844	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1741	7685	2	136608646	G	A	22724	association	Lactase_persistence	.	.	0.16134	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1742	7686	2	136616754	C	T	22725	association	Lactase_persistence	.	.	0.16334	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1743	331272	2	145145034	A	G	284502	Benign	Mowat-Wilson_syndrome	.	.	0.99581	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1744	670342	2	145155731	T	C	658232	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1745	672368	2	145161902	A	G	658234	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1746	670341	2	145161936	T	G	658237	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1747	159483	2	148716428	T	C	168039	Benign	Meier-Gorlin_syndrome_2|not_specified	0.31145	.	0.35583	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1748	683131	2	149216661	A	G	658139	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1749	331350	2	149270710	A	G	284330	Likely_benign	Intellectual_Disability,_Dominant	.	.	0.44908	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1750	682897	2	149835264	G	A	658120	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1751	669391	2	149855325	A	G	658152	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1752	670017	2	149857599	T	C	658268	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1753	683976	2	149862261	A	G	658134	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1754	331373	2	150426362	T	C	282037	Benign	Methylmalonic_acidemia|Disorders_of_Intracellu...	.	.	0.55312	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1755	331374	2	150426399	A	G	282047	Benign	Methylmalonic_acidemia|Disorders_of_Intracellu...	.	.	0.99601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1756	285847	2	150432256	A	G	270084	Conflicting_interpretations_of_pathogenicity	Methylmalonic_acidemia|Disorders_of_Intracellu...	0.00092	0.00207	0.0006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1757	260678	2	150432377	C	G	250172	Likely_benign	not_specified	0.62258	0.75397	0.6216	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1758	682622	2	150432690	T	A	658271	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1759	203836	2	150432976	C	T	199984	Benign	Methylmalonic_acidemia|Methylmalonic_acidemia_...	0.77395	0.86807	0.75959	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1760	95126	2	152346979	T	C	101026	Benign	not_specified|Nemaline_Myopathy,_Recessive|not...	0.41879	0.41358	0.33427	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1761	257804	2	152348842	T	A	250179	Benign	not_specified	0.2653	0.29929	0.20168	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1762	95122	2	152349026	G	A	101022	Benign	not_specified|not_provided	0.64185	0.66238	0.63838	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1763	95120	2	152352843	C	G	101020	Benign	not_specified|Nemaline_Myopathy,_Recessive|not...	0.6288	0.64994	0.6278	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1764	257792	2	152374800	G	A	250189	Benign	not_specified	0.59239	0.58954	0.53594	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1765	95116	2	152382454	C	G	101016	Benign	not_specified|not_provided	0.59528	.	0.54573	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1766	95114	2	152387553	T	C	101014	Benign	not_specified|Nemaline_Myopathy,_Recessive|not...	0.55387	0.58301	0.49161	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1767	95112	2	152388415	AT	A	101012	Benign	not_specified|Nemaline_Myopathy,_Recessive|not...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1768	257786	2	152394534	T	G	250194	Benign	not_specified	0.5598	0.5837	0.4988	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1769	257783	2	152404294	C	T	250198	Benign	not_specified	0.62039	0.64022	0.624	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1770	95109	2	152422076	C	G	101009	Benign	not_specified|Nemaline_Myopathy,_Recessive|not...	0.64977	0.6707	0.65316	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1771	331463	2	152424933	T	TA	284405	Benign	Nemaline_myopathy_2|Nemaline_Myopathy,_Recessi...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1772	257766	2	152435840	C	G	250212	Benign	not_specified	.	0	0.30751	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1773	257720	2	152475938	T	G	250255	Benign	not_specified	0.31596	.	0.2488	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1774	95102	2	152476028	C	G	101002	Benign	Nemaline_myopathy_2|not_specified|Nemaline_Myo...	0.26874	0.28911	0.21985	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1775	226848	2	152490219	A	G	228541	Benign	not_specified|not_provided	0.59877	.	0.626	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1776	226847	2	152490458	A	G	228542	Benign	not_specified|not_provided	0.97569	0.99282	0.97205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1777	95131	2	152527572	C	T	101031	Benign	not_specified|Nemaline_Myopathy,_Recessive|not...	0.66146	0.73856	0.53315	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1778	167336	2	152531077	A	G	177860	Benign	not_specified	0.81778	0.82649	0.71605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1779	95128	2	152536498	T	A	101028	Benign	not_specified|Nemaline_Myopathy,_Recessive|not...	0.69857	0.74994	0.58347	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1780	257767	2	152552062	A	C	250296	Benign	not_specified	0.62921	.	0.4988	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1781	257832	2	152573902	A	AGGC	250301	Benign	not_specified	.	0.74542	0.56929	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1782	95136	2	152573981	A	G	101036	Benign	Nemaline_myopathy_2|not_specified|Nemaline_Myo...	0.68611	0.74375	0.56929	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1783	331558	2	152690248	G	A	282210	Benign	Episodic_ataxia|Juvenile_myoclonic_epilepsy	.	.	0.8784	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1784	331574	2	152691829	C	G	284875	Benign	Episodic_ataxia|Juvenile_myoclonic_epilepsy	.	.	0.46026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1785	331610	2	152694448	A	G	282946	Benign	Episodic_ataxia|Juvenile_myoclonic_epilepsy	.	.	0.10543	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1786	331614	2	152694743	C	G	284493	Benign	Episodic_ataxia|Juvenile_myoclonic_epilepsy	.	.	0.03914	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1787	331619	2	152695008	AT	A	282291	Benign	Episodic_ataxia|Juvenile_myoclonic_epilepsy	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1788	331624	2	152695178	GT	G	282984	Uncertain_significance	Episodic_ataxia|Juvenile_myoclonic_epilepsy	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1789	331653	2	157181836	CTG	C	284954	Benign	Parkinson_Disease,_Dominant/Recessive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1790	331655	2	157181925	A	C	283004	Benign	Parkinson_Disease,_Dominant/Recessive	.	.	0.28634	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1791	331685	2	158593905	C	T	282340	Benign	Progressive_myositis_ossificans	.	.	0.08207	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1792	257466	2	158626980	C	T	250303	Benign	Progressive_myositis_ossificans|not_specified	0.9115	0.96419	0.91394	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1793	257464	2	158636910	G	A	250304	Benign	Progressive_myositis_ossificans|not_specified	0.60472	0.75017	0.65096	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1794	218475	2	160958349	GA	G	215223	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1795	587787	2	162280748	G	A	578942	Benign	History_of_neurodevelopmental_disorder	0.78646	0.82305	0.75859	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1796	261566	2	163124051	C	T	250306	Benign	not_specified	0.4614	0.50471	0.35663	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1797	261565	2	163128824	T	C	250307	Benign	Singleton-Merten_syndrome_1|not_specified	0.6916	0.67622	0.58986	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1798	167650	2	165987772	T	G	178049	Benign	not_specified	0.16292	.	0.18171	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1799	586501	2	165996107	T	A	576575	Benign	not_provided	0.50292	0.50676	0.63458	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1800	95445	2	166003479	G	A	101344	Benign	not_specified	0.22528	0.22148	0.25739	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1801	684237	2	166164887	G	A	658142	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1802	669359	2	166166672	C	T	658184	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1803	670843	2	166170073	A	G	658190	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1804	130216	2	166170127	T	C	135663	Benign	Benign_familial_neonatal-infantile_seizures|Hi...	0.82869	0.80165	0.77236	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1805	684238	2	166179357	C	A	658151	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1806	261400	2	166179650	C	T	250321	Benign	not_specified	0.59625	0.5205	0.5028	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1807	684239	2	166180347	T	A	658197	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1808	669320	2	166183214	G	T	658154	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1809	684240	2	166187534	T	C	658157	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1810	669322	2	166187635	T	G	658329	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1811	684241	2	166199284	T	A	658332	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1812	669328	2	166224047	G	A	658225	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1813	669329	2	166224105	A	C	658228	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1814	684243	2	166224175	G	C	658279	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1815	684247	2	166226358	G	C	658175	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1816	669330	2	166226978	A	G	658290	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1817	684249	2	166227107	A	G	658245	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1818	684250	2	166229396	A	G	658336	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1819	669360	2	166229509	C	T	658250	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1820	670621	2	166229930	T	A	658177	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1821	669361	2	166231634	A	G	658182	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1822	669332	2	166236870	TG	T	658312	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1823	668723	2	166238034	T	C	658317	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1824	331756	2	166248047	G	A	283078	Benign	Benign_familial_neonatal-infantile_seizures|Ea...	.	.	0.38339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1825	331778	2	166605010	A	T	282414	Benign	Tumoral_calcinosis,_hyperphosphatemic,_familial	.	.	0.32528	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1826	331801	2	166730387	T	C	282447	Likely_benign	Joubert_syndrome|Jeune_thoracic_dystrophy	.	.	0.09105	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1827	671929	2	166747785	A	G	658189	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1828	667577	2	166768263	T	C	658195	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1829	130652	2	166770120	A	G	136098	Benign	Joubert_syndrome|Jeune_thoracic_dystrophy|not_...	0.34753	0.33023	0.27736	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1830	667576	2	166771381	T	C	658198	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1831	674966	2	166771663	C	T	658201	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1832	130650	2	166773971	G	A	136096	Benign	Joubert_syndrome|Jeune_thoracic_dystrophy|not_...	0.36127	0.33312	0.29173	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1833	674965	2	166781242	T	TA	658263	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1834	670824	2	166786530	A	ATTTTAT	658278	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1835	130660	2	166788336	T	C	136106	Benign	Joubert_syndrome|Jeune_thoracic_dystrophy|not_...	0.94572	0.98526	0.94808	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1836	670255	2	166801882	T	G	658209	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1837	331873	2	166847034	T	C	285246	Benign	Epilepsy|Familial_hemiplegic_migraine	.	.	0.9972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1838	669358	2	166892346	A	G	658226	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1839	36753	2	166892788	C	T	45414	Benign	Epilepsy|Familial_hemiplegic_migraine|History_...	0.72321	0.72521	0.78854	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1840	487362	2	166893081	G	A	480426	Benign	Generalized_epilepsy_with_febrile_seizures_plu...	0.73242	0.7222	0.78874	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1841	670620	2	166894230	T	C	658377	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1842	669303	2	166895725	T	C	658379	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1843	674941	2	166895819	A	G	658311	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1844	669301	2	166896287	T	G	658249	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1845	684229	2	166896362	G	A	658313	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1846	36752	2	166897864	A	G	45413	Benign	Epilepsy|Familial_hemiplegic_migraine|Generali...	0.72336	.	0.78894	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1847	331890	2	166897989	G	GA	282540	Benign	Epilepsy|Familial_hemiplegic_migraine	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1848	670842	2	166898017	G	T	658253	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1849	669300	2	166899102	T	A	658257	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1850	684225	2	166899878	G	A	658343	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1851	670599	2	166900606	A	C	658382	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1852	684217	2	166902103	A	T	658324	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1853	670598	2	166903228	C	T	658334	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1854	36751	2	166903445	T	C	45412	Benign	Epilepsy|Familial_hemiplegic_migraine|Generali...	0.63963	0.70339	0.70927	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1855	669299	2	166903660	T	C	658335	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1856	684216	2	166903756	C	A	658258	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1857	674940	2	166904025	G	A	658349	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1858	670841	2	166904062	G	T	658350	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1859	670597	2	166904346	G	A	658337	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1860	496114	2	166905375	A	G	486945	Benign	not_provided	0.47667	0.52482	0.498	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1861	378510	2	166905480	G	A	365909	Benign	not_specified	0.63957	.	0.70907	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1862	674939	2	166905572	T	A	658351	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1863	684215	2	166907971	C	T	658397	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1864	684214	2	166909104	C	T	658354	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1865	12897	2	166909544	C	T	27936	drug_response	Febrile_seizures,_familial,_3a|carbamazepine_r...	.	.	0.49341	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1866	674938	2	166909559	C	A	658360	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1867	669297	2	166909695	A	G	658277	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1868	668972	2	166911586	T	C	658358	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1869	669296	2	166912757	C	T	658369	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1870	669295	2	166914895	A	G	658359	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1871	669294	2	166915335	C	A	658364	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1872	331903	2	167052328	A	G	283192	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	0.08846	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1873	331907	2	167052542	C	T	284812	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	0.42232	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1874	331908	2	167052555	CTTAAAAAAGTT	C	282565	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1875	331913	2	167052885	T	A	283202	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	0.03235	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1876	331921	2	167053036	C	G	284821	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	0.04673	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1877	331925	2	167053386	G	A	282571	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	0.08367	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1878	331926	2	167053408	C	T	283209	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	0.03235	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1879	331936	2	167054063	T	TTG	285321	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	0.08846	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1880	331938	2	167054169	G	A	283243	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	0.08347	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1881	331944	2	167054409	C	CTT	284837	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	0.04673	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1882	331948	2	167054765	C	CA	285329	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1883	331950	2	167054934	G	GAATC	282582	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1884	130270	2	167056337	C	A	135717	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	0.07204	0.06198	0.03195	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1885	258888	2	167060449	A	T	250346	Benign	not_specified	0.88696	0.88503	0.90136	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1886	167657	2	167060980	GAAAC	G	178055	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1887	130266	2	167089976	T	C	135713	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	0.07369	0.0737	0.03215	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1888	440255	2	167099158	A	G	433906	Benign	not_specified	0.87745	0.86926	0.88718	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1889	167659	2	167137119	G	A	178056	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	0.56163	0.52735	0.54573	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1890	21344	2	167141109	G	T	34196	Benign/Likely_benign	Primary_erythromelalgia|Generalized_epilepsy_w...	0.02135	0.02403	0.01238	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1891	130257	2	167144974	A	T	135704	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	0.56237	0.49441	0.54673	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1892	130256	2	167144995	T	C	135703	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	0.38657	0.37304	0.35443	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1893	130254	2	167145142	A	G	135701	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	0.38516	0.374	0.35443	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1894	130269	2	167163043	T	C	135716	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	0.71297	.	0.64117	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1895	130259	2	167168093	C	T	135706	Benign	Congenital_Indifference_to_Pain|Paroxysmal_ext...	0.67691	0.5874	0.57428	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1896	781822	2	167298093	A	G	707826	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1897	332013	2	169779712	T	C	285408	Benign	Progressive_familial_intrahepatic_cholestasis	.	.	0.50719	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1898	332014	2	169779764	C	T	282611	Benign	Progressive_familial_intrahepatic_cholestasis	.	.	0.50679	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1899	332018	2	169779896	T	C	283364	Benign	Progressive_familial_intrahepatic_cholestasis	.	.	0.72923	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1900	259152	2	169789016	T	C	250356	Benign	Progressive_familial_intrahepatic_cholestasis|...	0.4546	0.5557	0.49681	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1901	259148	2	169801488	A	G	250359	Benign	not_specified	0.75235	0.76633	0.85523	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1902	259147	2	169814655	G	T	250360	Benign	not_specified	0.45057	0.53985	0.4976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1903	194214	2	169830328	A	G	191377	Benign	Progressive_familial_intrahepatic_cholestasis|...	0.59578	0.57943	0.58866	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1904	259158	2	169842809	T	C	250364	Benign	Progressive_familial_intrahepatic_cholestasis|...	0.73957	0.70531	0.77416	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1905	129502	2	169997051	G	A	134948	Benign	Donnai_Barrow_syndrome|not_specified	0.60134	0.68389	0.55951	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1906	129501	2	170003432	T	G	134947	Benign	Donnai_Barrow_syndrome|not_specified	0.60449	0.71764	0.55591	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1907	129500	2	170010985	T	C	134946	Benign	Donnai_Barrow_syndrome|not_specified	0.80132	0.76213	0.77796	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1908	129493	2	170025083	A	G	134939	Benign	Donnai_Barrow_syndrome|not_specified	0.15178	0.20262	0.1907	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1909	129526	2	170092395	A	G	134972	Benign	Donnai_Barrow_syndrome|not_specified	0.37798	0.33374	0.46126	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1910	259418	2	170096018	G	A	250376	Benign	not_specified	0.34169	0.39328	0.44409	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1911	259416	2	170099446	T	G	250378	Benign	not_specified	0.5356	0.53831	0.61861	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1912	129519	2	170099473	T	C	134965	Benign	Donnai_Barrow_syndrome|not_specified	0.50323	0.5231	0.58187	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1913	259414	2	170099895	A	C	250380	Benign	not_specified	0.55251	.	0.02117	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1914	259413	2	170099899	G	A	250381	Benign	Donnai_Barrow_syndrome|not_specified	0.53468	0.5373	0.61861	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1915	129516	2	170103336	T	C	134962	Benign	Donnai_Barrow_syndrome|not_specified	0.53575	0.53848	0.61861	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1916	129515	2	170103351	G	T	134961	Benign	Donnai_Barrow_syndrome|not_specified	0.40243	0.49208	0.45647	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1917	129510	2	170115588	T	C	134956	Benign	Donnai_Barrow_syndrome|not_specified	0.54275	0.54644	0.6224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1918	129507	2	170129528	G	A	134953	Benign	Donnai_Barrow_syndrome|not_specified	0.61502	0.62454	0.60963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1919	129539	2	170147502	C	G	134985	Benign/Likely_benign	Donnai_Barrow_syndrome|not_specified	0.05536	.	0.04034	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1920	259421	2	170148745	A	G	250382	Benign	not_specified	0.05374	0.06164	0.03894	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1921	259422	2	170218816	T	C	250383	Benign	Donnai_Barrow_syndrome|not_specified	0.98853	0.99639	0.98463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1922	129534	2	170218847	C	G	134980	Benign	Donnai_Barrow_syndrome|not_specified	0.98924	0.99711	0.98463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1923	262633	2	170336024	G	C	250384	Benign	not_specified	0.89836	0.91069	0.91753	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1924	332221	2	171673475	G	A	282779	Benign	Cerebral_palsy_spastic_quadriplegic	.	.	0.17552	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1925	128889	2	172291616	C	T	134336	Benign	Hypogonadism,_diabetes_mellitus,_alopecia,_men...	0.27449	0.27232	0.30671	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1926	128892	2	172330393	A	G	134339	Benign	Hypogonadism,_diabetes_mellitus,_alopecia,_men...	0.19153	0.22666	0.20667	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1927	128887	2	172336541	C	T	134334	Benign	Hypogonadism,_diabetes_mellitus,_alopecia,_men...	0.19045	0.22428	0.20607	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1928	332280	2	172338194	G	A	283636	Benign	Hypogonadism,_diabetes_mellitus,_alopecia,_men...	.	0.26327	0.20647	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1929	332281	2	172338300	T	G	285663	Benign	Hypogonadism,_diabetes_mellitus,_alopecia,_men...	.	0.26313	0.20607	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1930	332297	2	172339964	C	T	285190	Benign	Hypogonadism,_diabetes_mellitus,_alopecia,_men...	.	0.99861	0.97744	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1931	332300	2	172340049	T	A	283665	Benign	Hypogonadism,_diabetes_mellitus,_alopecia,_men...	.	0.26431	0.20647	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1932	332306	2	172340419	T	C	285733	Benign	Hypogonadism,_diabetes_mellitus,_alopecia,_men...	.	0.2825	0.27176	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1933	332311	2	172340736	C	G	285742	Benign	Hypogonadism,_diabetes_mellitus,_alopecia,_men...	.	0.26482	0.20647	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1934	332313	2	172341327	A	G	282851	Benign	Hypogonadism,_diabetes_mellitus,_alopecia,_men...	.	0.26338	0.20647	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1935	332323	2	172640734	C	T	285205	Likely_benign	Hypomyelination,_global_cerebral	.	.	0.10144	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1936	332344	2	172693780	G	A	285231	Likely_benign	Hypomyelination,_global_cerebral|not_provided	0.20483	0.26711	0.26737	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1937	332346	2	172725301	A	G	282898	Benign	Hypomyelination,_global_cerebral|not_provided	0.8147	0.85671	0.79094	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1938	332352	2	173292379	G	A	285786	Likely_benign	Epidermolysis_bullosa_junctionalis_with_pylori...	.	.	0.07009	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1939	332356	2	173292709	A	G	285264	Benign	Epidermolysis_bullosa_junctionalis_with_pylori...	0.3208	0.35604	0.5006	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1940	332357	2	173292713	C	T	285266	Benign	Epidermolysis_bullosa_junctionalis_with_pylori...	0.31746	0.34629	0.48902	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1941	332360	2	173339808	G	A	285272	Benign	Epidermolysis_bullosa_junctionalis_with_pylori...	0.31255	0.28096	0.2516	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1942	332365	2	173344474	A	G	283693	Benign	Epidermolysis_bullosa_junctionalis_with_pylori...	0.40812	.	0.40715	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1943	332371	2	173352157	A	T	283697	Benign	Epidermolysis_bullosa_junctionalis_with_pylori...	0.04098	.	0.08706	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1944	332395	2	173369231	A	G	282931	Benign	Epidermolysis_bullosa_junctionalis_with_pylori...	.	.	0.63399	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1945	332418	2	173370689	T	TA	282948	Likely_benign	Epidermolysis_bullosa_junctionalis_with_pylori...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1946	769575	2	175292580	TTCAAATTTATCAG	T	697167	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1947	403608	2	175436940	G	A	389462	Benign	Wiskott-Aldrich_syndrome_2|not_specified	0.923	0.94105	0.90795	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1948	679134	2	175613115	G	A	658373	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1949	679133	2	175613169	A	C	658384	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1950	679132	2	175613600	T	C	658388	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1951	332445	2	175614908	CAA	C	283798	Benign	Multiple_pterygium_syndrome_Escobar_type|not_s...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1952	257237	2	175622788	G	A	250401	Benign	not_specified|not_provided	0.99777	0.99933	0.9982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1953	679129	2	175622907	T	C	658394	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1954	668089	2	175623763	C	T	658395	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1955	257235	2	175624107	GA	G	250402	Benign	Multiple_pterygium_syndrome_Escobar_type|not_s...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1956	679128	2	175624597	G	A	658283	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1957	679127	2	175628847	T	C	658284	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1958	680121	2	175629021	C	A	658424	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1959	332464	2	175677022	C	T	283832	Likely_benign	Duane's_syndrome	0.35958	0.43354	0.33686	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1960	193107	2	176957822	G	A	190272	Benign	not_specified	.	0.36828	0.44788	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1961	332506	2	176984454	A	T	285895	Benign	Vertical_talus,_congenital	.	.	0.25379	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1962	683748	2	178257214	G	A	658401	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1963	683753	2	178301167	T	C	658405	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1964	683756	2	178305437	A	G	658434	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1965	683770	2	178326952	A	G	658436	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1966	683775	2	178358072	C	T	658447	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1967	683777	2	178358233	G	T	658411	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1968	683779	2	178370040	T	C	658412	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1969	332549	2	178404735	T	TAAAG	283057	Benign	Rhizomelic_chondrodysplasia_punctata	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1970	332583	2	178406481	C	T	285569	Benign	Rhizomelic_chondrodysplasia_punctata	.	.	0.69669	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1971	332585	2	178406769	A	AT	285580	Benign	Rhizomelic_chondrodysplasia_punctata	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1972	332592	2	178407176	C	A	283120	Benign	Rhizomelic_chondrodysplasia_punctata	.	.	0.877	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1973	332599	2	178407897	T	C	283878	Benign	Rhizomelic_chondrodysplasia_punctata	.	.	0.8764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1974	332611	2	179296248	C	CACA	286048	Benign	Dystonia	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1975	332612	2	179296381	ACAAT	A	283881	Benign	Dystonia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1976	332613	2	179296511	C	T	285621	Uncertain_significance	Dystonia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1977	332615	2	179296626	G	A	283885	Benign	Dystonia	.	.	0.21486	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1978	332618	2	179296666	T	C	283886	Uncertain_significance	Dystonia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1979	332620	2	179296821	G	A	285627	Benign	Dystonia	0.20975	0.24498	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1980	469612	2	179296971	G	A	449299	Benign	not_provided	0.00846	0.00782	0.0028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1981	47691	2	179395874	C	T	56855	Conflicting_interpretations_of_pathogenicity	Cardiomyopathy|Hypertrophic_cardiomyopathy|Dis...	0.00869	0.00888	0.00319	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1982	47452	2	179424558	C	T	56616	Benign/Likely_benign	Cardiomyopathy|not_specified|Cardiovascular_ph...	0.00861	0.00892	0.0028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1983	47367	2	179432185	A	G	56532	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.22586	0.23681	0.12999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1984	47293	2	179440029	G	A	56458	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.23862	.	0.14657	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1985	47286	2	179440367	C	T	56451	Uncertain_significance	Limb-girdle_muscular_dystrophy,_type_2J|Dilate...	0.00016	0.00025	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1986	47250	2	179444768	C	G	56415	Benign/Likely_benign	Cardiomyopathy|Hypertrophic_cardiomyopathy|Dis...	0.99562	0.99863	0.99461	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1987	47218	2	179449131	G	A	56383	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Limb-girdle_muscul...	0.0317	0.02564	0.01078	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1988	595148	2	179454626	C	T	586210	Uncertain_significance	not_provided	8e-05	2e-05	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1989	47120	2	179462494	A	G	56285	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.22001	0.23487	0.127	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1990	46886	2	179545859	C	T	56051	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.22636	0.23473	0.126	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1991	46859	2	179554305	C	T	56024	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.43349	0.39948	0.41334	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1992	46714	2	179585266	C	T	55879	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.98141	0.99496	0.98203	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1993	46590	2	179600563	G	A	55755	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.98103	0.99488	0.98183	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1994	47743	2	179614952	A	G	56907	Benign	not_specified	0.97255	0.9926	0.97504	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1995	47736	2	179615887	T	C	56900	Benign	not_specified	0.81806	0.82709	0.73303	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1996	47735	2	179615931	C	G	56899	Benign	not_specified	0.97245	0.99261	0.97504	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1997	47733	2	179615994	T	C	56897	Benign	not_specified	0.97247	0.99256	0.97504	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1998	680821	2	179617567	C	T	658475	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
1999	47852	2	179620951	C	T	57016	Benign	not_specified|not_provided	0.90281	0.8508	0.80451	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2000	137832	2	179621477	C	T	141535	Benign	not_specified|not_provided	0.99917	0.99969	0.999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2001	46582	2	179623758	C	T	55747	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.90235	0.85117	0.80891	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2002	47707	2	179629363	T	C	56871	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.97032	0.9921	0.97364	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2003	47692	2	179629461	C	T	56856	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.89651	0.85002	0.80491	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2004	47063	2	179642425	G	A	56228	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.94649	0.95877	0.91154	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2005	47001	2	179644035	G	A	56166	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.95086	0.96058	0.92013	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2006	46973	2	179644855	T	C	56138	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.73489	0.69444	0.5002	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2007	680819	2	179645577	C	T	658485	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2008	680817	2	179649349	G	A	658491	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2009	46774	2	179650701	C	T	55939	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Distal_myopathy_Ma...	0.336	0.31922	0.20467	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2010	672045	2	179650954	G	A	658492	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2011	672044	2	179664050	A	G	658662	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2012	671211	2	179667090	C	T	658509	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2013	332979	2	182401566	C	T	283440	Benign	Retinitis_Pigmentosa,_Recessive	.	0.99826	0.99141	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2014	332987	2	182402031	C	T	286027	Benign	Retinitis_Pigmentosa,_Recessive	.	0.99824	0.99141	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2015	333001	2	182402790	G	A	284119	Benign	Retinitis_Pigmentosa,_Recessive	.	0.76889	0.76757	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2016	166844	2	182403851	G	A	177576	Benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.99323	0.99748	0.99121	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2017	257149	2	182413259	A	G	250436	Benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.59313	0.62394	0.64836	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2018	166846	2	182413602	A	T	177577	Benign	Retinitis_pigmentosa_26|not_specified	0.59311	0.61807	0.64796	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2019	166848	2	182468818	A	T	177578	Benign/Likely_benign	Retinitis_pigmentosa_26|not_specified|Retiniti...	0.22663	0.1602	0.27117	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2020	166849	2	182521578	G	A	177579	Benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.40203	0.52571	0.50739	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2021	801839	2	182543455	T	C	790136	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2022	333042	2	182545218	C	T	286090	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	0.77816	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2023	673782	2	189849773	A	G	658588	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2024	670961	2	189855674	T	A	658634	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2025	678460	2	189856671	C	T	658519	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2026	683360	2	189857336	A	G	658693	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2027	199694	2	189859434	CT	C	196782	Conflicting_interpretations_of_pathogenicity	Ehlers-Danlos_syndrome,_type_4|Thoracic_aortic...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2028	670964	2	189860128	C	T	658643	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2029	670965	2	189862203	C	T	658541	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2030	672236	2	189864840	C	T	658648	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2031	254962	2	189866199	T	A	250446	Benign	not_specified|not_provided	0.70129	0.75866	0.77636	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2032	674274	2	189867205	G	A	658555	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2033	683353	2	189874223	C	CA	658663	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2034	226540	2	189875421	T	G	228910	Benign	Ehlers-Danlos_syndrome,_type_4|Thoracic_aortic...	0.99493	0.99851	0.99661	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2035	672310	2	189899541	T	C	658664	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2036	670990	2	189899572	T	C	658674	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2037	672287	2	189900093	C	T	658665	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2038	681217	2	189901060	C	T	658679	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2039	256004	2	189901295	G	A	250456	Benign	not_specified|not_provided	0.71278	0.72451	0.64337	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2040	681216	2	189906743	G	A	658758	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2041	681215	2	189913273	C	T	658759	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2042	681212	2	189916513	T	C	658593	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2043	672286	2	189918337	T	C	658699	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2044	670987	2	189918787	C	T	658599	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2045	670986	2	189923104	A	G	658711	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2046	672285	2	189923401	T	C	658603	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2047	672284	2	189923434	A	C	658606	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2048	213077	2	189923630	AT	A	209545	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2049	672283	2	189925313	G	C	658784	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2050	255997	2	189925548	T	A	250461	Benign	not_specified|not_provided	0.96233	0.95929	0.94249	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2051	670984	2	189927506	C	G	658712	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2052	679169	2	189928999	C	CAAGTA	658710	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2053	681211	2	189930854	G	A	658713	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2054	136939	2	189932764	G	A	140642	Benign/Likely_benign	Ehlers-Danlos_syndrome,_type_7A|Ehlers-Danlos_...	0.03975	0.03241	0.01158	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2055	672282	2	189936687	T	G	658720	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2056	681210	2	189945414	G	A	658608	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2057	136968	2	189963501	G	A	140671	Benign/Likely_benign	Ehlers-Danlos_syndrome_classic_type_2|Ehlers-D...	0.00684	0.00638	0.00439	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2058	439540	2	189974794	G	A	433445	Benign	Ehlers-Danlos_syndrome_classic_type_2|not_prov...	.	.	0.78854	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2059	439539	2	189974958	G	T	433444	Benign	Ehlers-Danlos_syndrome_classic_type_2	0.93995	0.9322	0.88858	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2060	679168	2	189975415	T	A	658741	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2061	260422	2	190430177	A	G	250469	Benign	Hereditary_hemochromatosis|not_specified|not_p...	0.50154	0.61425	0.55012	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2062	774411	2	190617411	T	TA	697214	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2063	369322	2	190648805	G	T	353551	Likely_benign	Lynch_syndrome	.	.	0.08806	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2064	333199	2	190649316	G	C	284296	Likely_benign	Lynch_syndrome	.	.	0.21925	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2065	333223	2	190921242	G	A	286659	Benign	Myostatin-related_muscle_hypertrophy	.	.	0.03135	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2066	379986	2	191161622	T	C	366282	Benign	not_specified|not_provided	0.7242	0.73928	0.68431	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2067	379985	2	191184475	A	G	366807	Benign	not_specified|not_provided	0.5519	0.52787	0.43171	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2068	379984	2	191184524	C	T	366040	Benign	not_specified	0.65633	0.68431	0.54872	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2069	403495	2	191922841	G	A	389452	Benign	not_specified	0.57012	0.64154	0.49641	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2070	402748	2	196673533	A	G	389457	Benign	not_specified	0.96325	0.98935	0.96126	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2071	402753	2	196791276	T	G	389459	Benign	not_specified	0.48753	0.58933	0.48003	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2072	402755	2	196851911	G	A	389470	Benign	not_specified	0.52563	0.63121	0.54074	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2073	402756	2	196866420	C	T	389460	Benign	not_specified	0.73028	0.82819	0.65375	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2074	402757	2	196912067	A	G	389467	Benign	not_specified	0.70847	0.733	0.77177	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2075	671556	2	198359027	G	C	658840	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2076	129241	2	198362018	T	C	134687	Benign	not_specified|Spastic_paraplegia,_autosomal_do...	0.69537	0.64901	0.65455	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2077	129243	2	198363504	A	G	134689	Benign	not_specified|Spastic_paraplegia,_autosomal_do...	0.16439	0.16426	0.15815	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2078	137567	2	198364518	G	A	141270	Benign	not_specified|Spastic_paraplegia,_autosomal_do...	.	.	0.23323	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2079	587756	2	200173684	T	G	578967	Benign	History_of_neurodevelopmental_disorder	0.93303	0.98197	0.93091	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2080	333418	2	202050677	A	G	284490	Benign	Autoimmune_lymphoproliferative_syndrome|not_sp...	0.51015	0.4524	0.39417	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2081	333442	2	202082459	T	A	286508	Benign	Autoimmune_lymphoproliferative_syndrome|not_sp...	0.44272	0.40988	0.32907	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2082	333471	2	202084428	CT	C	286531	Benign	Autoimmune_lymphoproliferative_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2083	333476	2	202085051	TG	T	284569	Uncertain_significance	Autoimmune_lymphoproliferative_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2084	7763	2	202097531	TAGTAAG	T	22802	protective	Lung_cancer,_protection_against	.	.	0.38898	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2085	402492	2	202122995	A	G	389468	Benign	not_specified	0.66947	0.6673	0.64637	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2086	333505	2	202149696	G	A	284615	Benign	Caspase-8_deficiency	0.10618	0.102	0.17532	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2087	333513	2	202151439	G	C	284626	Benign	Caspase-8_deficiency	.	.	0.55431	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2088	333520	2	202151781	T	C	283943	Benign	Caspase-8_deficiency	.	.	0.17772	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2089	333526	2	202152243	G	GAT	284641	Benign	Caspase-8_deficiency	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2090	257314	2	202491995	G	A	250479	Benign	not_specified|not_provided	0.25169	.	0.36182	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2091	667554	2	202501205	T	C	658841	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2092	257317	2	202501448	T	C	250486	Benign	not_specified|not_provided	0.6686	0.65658	0.58506	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2093	333574	2	202565570	C	T	283960	Likely_benign	ALS2-Related_Disorders|Amyotrophic_Lateral_Scl...	.	.	0.10244	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2094	333577	2	202565681	G	A	287069	Likely_benign	ALS2-Related_Disorders|Amyotrophic_Lateral_Scl...	.	.	0.08966	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2095	261379	2	202570232	A	G	250492	Benign	not_specified	0.89064	0.92363	0.90595	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2096	261377	2	202575821	G	A	250494	Benign	ALS2-Related_Disorders|not_specified|Amyotroph...	0.89	0.92321	0.90535	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2097	261375	2	202580370	G	A	250496	Benign	not_specified	0.82053	0.83048	0.80411	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2098	261373	2	202591157	C	T	250498	Likely_benign	not_specified	0.01661	.	0.00399	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2099	261369	2	202593280	G	A	250501	Benign/Likely_benign	ALS2-Related_Disorders|not_specified|Amyotroph...	0.07648	0.09785	0.11502	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2100	261368	2	202598113	C	T	250502	Benign	ALS2-Related_Disorders|not_specified|Amyotroph...	0.468	0.52717	0.3724	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2101	261364	2	202625615	C	T	250505	Benign	ALS2-Related_Disorders|not_specified|Amyotroph...	0.86145	0.9106	0.89657	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2102	678684	2	203329950	A	G	658846	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2103	676056	2	203419859	A	G	658748	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2104	136528	2	203420712	G	A	140231	Benign/Likely_benign	Primary_pulmonary_hypertension|not_specified	0.02568	0.02516	0.00998	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2105	333682	2	203427559	C	CA	287174	Benign	Primary_pulmonary_hypertension	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2106	333715	2	203430456	T	G	286792	Benign	Primary_pulmonary_hypertension	.	.	0.55431	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2107	16921	2	204732714	A	G	31960	Benign	Diabetes_mellitus,_insulin-dependent,_suscepti...	.	.	0.42732	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2108	333771	2	206988452	A	T	286845	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficiency	.	.	0.07947	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2109	333774	2	206988573	C	A	284912	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficiency	.	.	0.47724	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2110	683068	2	206989170	C	A	658032	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2111	683049	2	206990984	A	G	658036	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2112	669517	2	206992987	T	C	658163	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2113	683048	2	206995139	C	A	658164	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2114	683046	2	206995240	G	A	658167	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2115	683045	2	206997419	G	A	658147	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2116	683042	2	206998050	A	G	658169	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2117	669516	2	207003671	T	C	658171	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2118	683041	2	207006466	G	A	658041	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2119	129695	2	207006676	T	C	135141	Benign/Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficie...	0.36053	0.31052	0.3099	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2120	682758	2	207007127	C	T	658173	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2121	669514	2	207007177	G	A	658174	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2122	129696	2	207008763	C	A	135142	Benign/Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficie...	0.50961	.	0.46226	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2123	333790	2	207024107	G	C	284926	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficiency	.	.	0.38019	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2124	333794	2	207630338	C	T	284936	Likely_benign	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	0.11042	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2125	683905	2	207637364	G	A	658751	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2126	333811	2	207656613	A	G	284961	Uncertain_significance	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	0.01358	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2127	333825	2	207657741	G	A	286901	Likely_benign	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	0.1853	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2128	260059	2	208986385	A	G	250511	Benign	Cataract|not_specified	0.93718	0.87924	0.8117	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2129	260061	2	208986637	T	C	250512	Benign	Cataract|not_specified|not_provided	0.89243	.	0.77676	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2130	260062	2	208989037	A	G	250514	Benign	Cataract|not_specified|not_provided	0.57443	0.59688	0.64477	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2131	677166	2	209007559	T	G	655409	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2132	677165	2	209010558	A	G	655410	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2133	333897	2	209184980	G	A	284315	Benign	Fleck_corneal_dystrophy	0.99215	0.99769	0.99181	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2134	333898	2	209184999	C	T	285012	Benign	Fleck_corneal_dystrophy	0.92214	0.95976	0.91154	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2135	333905	2	209190330	T	C	287364	Benign	Fleck_corneal_dystrophy	0.92242	.	0.91174	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2136	333909	2	209190519	A	T	287006	Benign	Fleck_corneal_dystrophy	0.92234	0.95972	0.91154	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2137	333910	2	209190528	C	G	287007	Benign	Fleck_corneal_dystrophy	0.92311	0.96006	0.91214	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2138	333917	2	209191082	C	A	284327	Benign	Fleck_corneal_dystrophy	0.92234	0.95961	0.91154	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2139	333918	2	209191099	T	C	284328	Benign	Fleck_corneal_dystrophy	0.99462	0.99847	0.99601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2140	333928	2	209209827	G	A	285022	Benign	Fleck_corneal_dystrophy	0.92165	0.95955	0.91094	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2141	333930	2	209212707	G	A	284331	Benign	Fleck_corneal_dystrophy	0.68307	0.80986	0.71605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2142	333932	2	209214770	A	G	284336	Benign	Fleck_corneal_dystrophy	0.92179	0.9596	0.91114	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2143	333934	2	209215586	A	G	284342	Benign	Fleck_corneal_dystrophy	0.92188	0.95961	0.91114	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2144	333941	2	209220157	G	T	287029	Benign	Fleck_corneal_dystrophy	.	.	0.91114	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2145	333942	2	209220238	G	C	287467	Benign	Fleck_corneal_dystrophy	.	.	0.91114	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2146	1620	2	211060050	T	G	16659	Benign	Very_long_chain_acyl-CoA_dehydrogenase_deficie...	.	0.30109	0.21106	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2147	333997	2	211074909	T	C	287296	Benign	Very_long_chain_acyl-CoA_dehydrogenase_deficiency	0.27726	0.30182	0.21166	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2148	671408	2	211342138	T	G	658854	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2149	137026	2	211342502	G	A	140729	Benign	Congenital_hyperammonemia,_type_I|not_specified	0.42757	0.50657	0.48083	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2150	203647	2	211421452	A	ATCT	199986	Benign	Congenital_hyperammonemia,_type_I|not_specifie...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2151	683611	2	211438396	G	A	658856	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2152	683612	2	211455342	T	C	658858	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2153	281476	2	211456637	ACC	GCT	265713	Benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2154	128851	2	211481257	C	G	134299	Benign	Congenital_hyperammonemia,_type_I|not_specifie...	0.66223	.	0.64916	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2155	258479	2	211515058	A	T	250536	Benign	not_specified|not_provided	0.35753	0.41857	0.42272	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2156	683616	2	211523163	A	G	658760	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2157	258483	2	211527827	GT	G	250540	Benign/Likely_benign	Congenital_hyperammonemia,_type_I|not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2158	128852	2	211540507	C	A	134300	Benign	Congenital_hyperammonemia,_type_I|not_specified	0.32916	0.30339	0.28854	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2159	203646	2	211541721	A	G	199993	Benign/Likely_benign	Congenital_hyperammonemia,_type_I|not_specified	0.03737	.	0.01937	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2160	334042	2	211543055	T	C	287441	Benign	Congenital_hyperammonemia,_type_I	.	.	0.23622	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2161	334045	2	211543147	T	G	284568	Benign	Congenital_hyperammonemia,_type_I	.	.	0.26897	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2162	334046	2	211543401	C	G	285250	Benign	Congenital_hyperammonemia,_type_I	.	.	0.24581	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2163	769264	2	212578379	TA	T	777230	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2164	801875	2	215593261	CT	C,CTTT	790173	Benign	Familial_cancer_of_breast	.	.	.	1|2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2165	256214	2	215632192	G	A	250542	Benign/Likely_benign	Neoplasm_of_the_breast|Hereditary_cancer-predi...	0.33531	0.3614	0.35224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2166	215471	2	215632255	CA	TG	212134	Benign/Likely_benign	Hereditary_cancer-predisposing_syndrome|not_sp...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2167	256213	2	215634055	C	T	250543	Benign	Hereditary_cancer-predisposing_syndrome|not_sp...	0.35953	0.38181	0.36522	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2168	142769	2	215645464	C	G	152483	Benign/Likely_benign	Neoplasm_of_the_breast|Hereditary_cancer-predi...	0.53183	0.5487	0.45927	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2169	334196	2	215657182	TAA	T	285273	Conflicting_interpretations_of_pathogenicity	Neoplasm_of_the_breast|Hereditary_cancer-predi...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2170	183698	2	215674224	G	A	181856	Benign/Likely_benign	Neoplasm_of_the_breast|Hereditary_cancer-predi...	0.30314	0.43768	0.33127	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2171	334200	2	215674341	A	G	284585	Likely_benign	Neoplasm_of_the_breast	0.78518	0.68951	0.74501	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2172	334204	2	215796302	G	GACAA	287669	Benign	Congenital_ichthyosiform_erythroderma	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2173	334208	2	215796568	T	C	287676	Benign	Congenital_ichthyosiform_erythroderma	.	.	0.59385	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2174	334218	2	215797332	C	T	287697	Benign	Congenital_ichthyosiform_erythroderma	0.38736	0.43135	0.39816	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2175	262833	2	215812297	G	A	250544	Benign	not_specified	0.52345	0.46968	0.52336	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2176	262831	2	215820013	G	A	250546	Benign	Congenital_ichthyosiform_erythroderma|not_spec...	0.38221	0.40511	0.35004	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2177	262828	2	215851246	A	G	250549	Benign	not_specified	0.99885	0.99968	0.999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2178	262824	2	215876166	A	T	250553	Benign	Congenital_ichthyosiform_erythroderma|not_spec...	0.99777	0.9994	0.9984	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2179	801893	2	216190020	C	G	790193	Benign	AICAR_transformylase/IMP_cyclohydrolase_defici...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2180	225999	2	216212339	T	C	227829	drug_response	methotrexate_response_-_Efficacy	.	0.3966	0.28554	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2181	788697	2	216289830	G	A	708016	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2182	801895	2	216300482	T	A	790195	Benign	Spondylometaphyseal_dysplasia	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2183	334280	2	217277249	C	T	284640	Benign	Schimke_immunoosseous_dysplasia	.	.	0.20787	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2184	260662	2	219205471	G	A	250572	Benign	Paroxysmal_nonkinesigenic_dyskinesia_1|not_spe...	0.06582	0.04387	0.05132	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2185	334332	2	219209796	C	A	284672	Benign	Paroxysmal_nonkinesigenic_dyskinesia_1	.	.	0.27436	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2186	334342	2	219210606	T	C	287832	Benign	Paroxysmal_nonkinesigenic_dyskinesia_1	.	.	0.47664	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2187	334345	2	219210781	G	A	287836	Benign	Paroxysmal_nonkinesigenic_dyskinesia_1	.	.	0.46805	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2188	769265	2	219266385	G	A	697320	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2189	669695	2	219525335	C	T	658817	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2190	334362	2	219646547	A	AC	287853	Benign	Cholestanol_storage_disease	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2191	281220	2	219924867	G	A	265457	Benign/Likely_benign	Brachydactyly|not_specified|not_provided	0.00315	0.00411	0.0028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2192	780100	2	220097286	G	A	708050	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2193	780101	2	220099713	C	T	708052	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2194	680749	2	220144410	G	C	658820	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2195	137118	2	220145286	C	T	140821	Benign	not_specified	0.27849	.	0.26977	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2196	680750	2	220146196	G	T	658678	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2197	674022	2	220146402	C	T	658898	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2198	137119	2	220146651	G	A	140822	Benign	not_specified	0.17177	0.14963	0.15535	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2199	671677	2	220147108	G	T	658792	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2200	680751	2	220147732	C	T	658793	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2201	672013	2	220282955	C	T	658797	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2202	36002	2	220283259	A	G	44666	Benign	Cardiomyopathy|Scapuloperoneal_weakness|Myofib...	0.89723	0.96521	0.88618	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2203	36003	2	220283277	T	C	44667	Benign	Cardiomyopathy|Scapuloperoneal_weakness|Myofib...	0.87939	.	0.86601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2204	258491	2	220284779	C	T	250577	Benign	not_specified|not_provided	0.47963	0.61694	0.52935	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2205	369331	2	220291474	T	C	353560	Benign	Scapuloperoneal_weakness|Myofibrillar_myopathy...	.	.	0.52836	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2206	194972	2	220416942	G	C	192134	Benign	Three_M_syndrome|not_specified	0.43533	0.46681	0.38758	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2207	288014	2	220417266	C	T	272251	Benign	Three_M_syndrome_2|Three_M_syndrome|not_specified	0.42003	0.46833	0.3766	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2208	334466	2	220419236	T	C	287705	Benign	Three_M_syndrome	0.98775	0.99608	0.98522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2209	334469	2	220419339	T	C	287707	Benign	Three_M_syndrome	0.96139	0.98586	0.96106	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2210	334470	2	220420785	G	A	284807	Benign	Three_M_syndrome	0.25997	.	0.22923	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2211	334475	2	220420956	A	G	284811	Benign	Three_M_syndrome	0.96938	0.99008	0.96366	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2212	334493	2	220422583	G	A	287738	Uncertain_significance	Three_M_syndrome	0.01067	0.01013	0.00399	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2213	334496	2	220422774	A	G	288042	Benign	Three_M_syndrome	0.45583	.	0.41913	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2214	334503	2	220427395	G	A	287767	Benign	Three_M_syndrome	0.19209	0.20281	0.16414	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2215	334508	2	220430203	C	T	287769	Benign	Three_M_syndrome	0.82823	0.86545	0.79273	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2216	193382	2	220435034	A	G	190546	Benign	Three_M_syndrome|not_specified	0.82085	0.86442	0.78335	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2217	290129	2	220435375	G	A	274366	Benign	Three_M_syndrome|not_specified	0.29745	0.44477	0.35883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2218	195432	2	223161889	A	G	192593	Benign	Craniofacial_deafness_hand_syndrome|Waardenbur...	0.84653	0.88716	0.90435	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2219	682627	2	224821790	A	T	658921	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2220	682628	2	224822669	T	C	658799	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2221	669505	2	224824002	C	A	658844	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2222	682635	2	224828298	G	A	658926	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2223	334570	2	225335173	G	A	285544	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.99561	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2224	334588	2	225336050	A	G	284901	Likely_benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.0012	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2225	683328	2	227924774	C	T	658689	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2226	682798	2	227942519	A	G	658805	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2227	254978	2	228102723	G	C	250620	Benign	Alport_syndrome|Alport_syndrome_3,_autosomal_d...	0.35109	.	0.23023	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2228	254996	2	228111435	T	C	250625	Benign	Alport_syndrome|Alport_syndrome_3,_autosomal_d...	0.77043	0.83022	0.79673	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2229	255001	2	228113175	A	G	250626	Benign	Alport_syndrome|Alport_syndrome_3,_autosomal_d...	0.77013	0.8304	0.79633	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2230	255009	2	228120800	T	C	250631	Benign	not_specified	0.02577	0.02745	0.01418	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2231	255010	2	228121101	G	T	250632	Benign/Likely_benign	Alport_syndrome|Alport_syndrome_3,_autosomal_d...	0.16577	0.16675	0.11582	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2232	254985	2	228135631	C	T	250642	Benign	Alport_syndrome|Alport_syndrome_3,_autosomal_d...	0.38901	0.46945	0.39996	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2233	585521	2	228173078	A	G	576665	Benign	not_provided	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2234	334792	2	228176901	A	C	285112	Benign	Alport_syndrome	.	.	0.72903	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2235	334799	2	228177479	C	T	288476	Benign	Alport_syndrome	.	.	0.84764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2236	334808	2	228177751	G	A	288077	Benign	Alport_syndrome	.	.	0.26897	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2237	334809	2	228177825	C	G	288078	Benign	Alport_syndrome	.	.	0.91613	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2238	334817	2	228178645	C	G	288490	Benign	Alport_syndrome	.	.	0.91613	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2239	334821	2	228178780	A	C	285135	Benign	Alport_syndrome	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2240	684244	2	228194653	C	T	658703	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2241	684246	2	228197488	A	G	658849	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2242	684251	2	228207776	C	A	658845	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2243	684252	2	228220769	T	C	658716	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2244	334834	2	228550004	G	A	285141	Benign	Thiamine_Metabolism_Dysfunction_Syndrome	.	.	0.99701	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2245	215155	2	228560800	GA	G	210790	Benign	Biotin-thiamine-responsive_basal_ganglia_disea...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2246	683857	2	228564591	A	T	658746	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2247	369332	2	228582746	G	A	353561	Benign	Thiamine_Metabolism_Dysfunction_Syndrome	.	.	0.53554	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2248	334896	2	231036768	T	C	288165	Benign/Likely_benign	Hepatic_venoocclusive_disease_with_immunodefic...	0.11756	0.10023	0.07887	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2249	334898	2	231036866	G	A	288166	Benign/Likely_benign	Hepatic_venoocclusive_disease_with_immunodefic...	0.10849	.	0.06809	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2250	334902	2	231042276	A	G	288174	Benign	Hepatic_venoocclusive_disease_with_immunodefic...	0.4175	0.42564	0.32488	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2251	5539	2	231050715	A	G	20578	Benign	Mycobacterium_tuberculosis,_susceptibility_to|...	.	.	0.90395	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2252	334909	2	231072709	C	T	288178	Benign	Hepatic_venoocclusive_disease_with_immunodefic...	0.70229	0.70872	0.80252	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2253	334911	2	231077112	G	A	288179	Benign	Hepatic_venoocclusive_disease_with_immunodefic...	0.21529	0.21078	0.15915	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2254	334912	2	231077154	G	A	285894	Benign	Hepatic_venoocclusive_disease_with_immunodefic...	0.28694	0.23788	0.22883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2255	403465	2	231077725	A	G	389491	Benign	not_specified	0.91481	0.90907	0.95108	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2256	767868	2	233244930	G	C	697393	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2257	128957	2	233349588	G	A	134404	Benign	not_specified	0.95802	0.9832	0.96266	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2258	677180	2	233385396	G	A	655432	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2259	677181	2	233388813	T	G	655433	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2260	677664	2	233389918	A	G	658970	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2261	801911	2	233408220	AG	A	790211	Benign	Multiple_pterygium_syndrome_Escobar_type	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2262	194064	2	233410294	C	T	191227	Benign/Likely_benign	Multiple_pterygium_syndrome_Escobar_type|not_s...	0.17646	0.18694	0.15196	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2263	335021	2	233410922	A	G	288732	Likely_benign	Multiple_pterygium_syndrome_Escobar_type	.	.	0.15735	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2264	335023	2	233410994	C	T	288738	Likely_benign	Multiple_pterygium_syndrome_Escobar_type	.	.	0.15515	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2265	335026	2	233411016	CTCTTTTT	C	285970	Likely_benign	Multiple_pterygium_syndrome_Escobar_type	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2266	335029	2	233630577	G	A	288739	Uncertain_significance	Leber_congenital_amaurosis	.	.	0.00499	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2267	518337	2	233712049	G	A	508778	Benign	Parkinson_disease_11	0.64101	0.63513	0.60523	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2268	518340	2	233712296	G	A	508781	Benign	Parkinson_disease_11	0.68321	0.64495	0.63998	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2269	1130	2	234183368	A	G	16169	Benign	Inflammatory_bowel_disease_10,_susceptibility_...	.	0.4578	0.39597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2270	167635	2	234235749	G	C	178039	Benign	not_specified	0.39548	0.4406	0.36681	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2271	335069	2	234235820	C	T	288347	Benign/Likely_benign	Oguchi's_disease|Retinitis_Pigmentosa,_Recessi...	0.12935	0.10147	0.10623	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2272	194606	2	234255547	G	A	191769	Benign	Oguchi's_disease|not_specified|Retinitis_Pigme...	0.30822	0.39092	0.30292	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2273	225993	2	234580453	AT	A	227745	drug_response	SN-38_response_-_Other	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2274	440384	2	234590527	T	G	434018	Uncertain_significance	not_specified	.	.	0.29772	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2275	440385	2	234590616	C	A	434019	Benign	not_specified	0.34884	.	0.29732	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2276	440386	2	234590970	T	G	434020	Benign	not_specified	.	0.58805	0.57628	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2277	440389	2	234591205	T	C	434023	Benign	not_specified	0.34922	0.35129	0.29772	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2278	440378	2	234601669	T	G	434012	Benign	not_specified	0.4042	0.3901	0.36222	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2279	440379	2	234601965	A	G	434013	Benign	not_specified	0.36053	0.35185	0.34265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2280	440381	2	234602191	A	G	434015	Benign	not_specified	0.30463	0.31333	0.27756	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2281	440380	2	234602202	A	C	434014	Benign	not_specified	0.33992	0.34567	0.32468	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2282	12288	2	234665659	T	G	27327	Benign	Gilbert's_syndrome|Gilbert_syndrome,_susceptib...	.	.	0.58806	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2283	810732	2	234665782	G	A	798981	Likely_benign	Gilbert's_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2284	226029	2	234668570	C	T	227747	drug_response	atazanavir_response_-_Other	.	.	0.35403	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2285	12289	2	234672639	G	T	27328	Benign,_association	Gilbert's_syndrome|Bilirubin,_serum_level_of,_...	.	.	0.34764	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2286	810733	2	234672722	T	G	798982	Benign	Gilbert's_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2287	335084	2	234681416	T	C	285391	Benign	Crigler-Najjar_syndrome|Gilbert's_syndrome|Luc...	.	.	0.7524	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2288	335085	2	234681544	G	C	288359	Benign	Crigler-Najjar_syndrome|Gilbert's_syndrome|Luc...	.	.	0.82109	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2289	335086	2	234681645	G	C	288783	Benign	Crigler-Najjar_syndrome|Gilbert's_syndrome|Luc...	.	.	0.74501	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2290	779327	2	237032574	C	T	708124	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2291	335089	2	238232752	C	A	285394	Benign	Collagen_VI-related_myopathy	.	.	0.6879	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2292	335091	2	238232811	T	A	286060	Benign	Collagen_VI-related_myopathy	.	.	0.15555	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2293	94900	2	238233410	C	G	100800	Benign	Collagen_VI-related_myopathy|not_specified	0.13824	.	0.20986	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2294	95022	2	238233483	G	A	100922	Benign	not_specified|not_provided	0.25273	0.2908	0.22963	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2295	95018	2	238243292	G	A	100918	Benign	Collagen_VI-related_myopathy|not_specified	0.36229	0.3884	0.34625	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2296	95014	2	238243464	C	G	100914	Benign	Collagen_VI-related_myopathy|not_specified	0.83508	0.77288	0.79233	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2297	679240	2	238244575	T	C	658901	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2298	95008	2	238244963	A	G	100908	Benign	Collagen_VI-related_myopathy|not_specified	0.69656	0.63862	0.63658	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2299	94998	2	238249630	C	T	100898	Benign	Collagen_VI-related_myopathy|not_specified	0.36783	0.39875	0.34245	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2300	94968	2	238258814	C	G	100868	Benign	Bethlem_myopathy_1|Ullrich_congenital_muscular...	0.5589	0.54892	0.55431	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2301	679237	2	238259675	G	A	658999	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2302	668109	2	238265684	C	T	658790	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2303	681264	2	238266146	C	T	659005	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2304	679231	2	238266248	G	C	658801	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2305	679230	2	238266633	G	A	658939	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2306	679229	2	238267058	G	A	658806	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2307	94962	2	238267717	C	T	100862	Benign	Bethlem_myopathy_1|Ullrich_congenital_muscular...	0.24919	0.21289	0.33087	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2308	668108	2	238268454	A	C	659007	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2309	680754	2	238269871	C	G	658818	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2310	668107	2	238270726	A	G	658941	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2311	94950	2	238271882	T	TA	100850	Benign	Collagen_VI-related_myopathy|not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2312	680753	2	238274828	C	A	659010	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2313	94936	2	238277573	C	A	100836	Benign	Collagen_VI-related_myopathy|not_specified	0.23435	.	0.26558	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2314	94933	2	238277795	A	G	100833	Benign	Collagen_VI-related_myopathy|not_specified	0.34707	0.28888	0.38838	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2315	668106	2	238278142	G	A	658832	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2316	94921	2	238283605	G	A	100821	Benign	Collagen_VI-related_myopathy|not_specified	0.19806	0.23271	0.21586	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2317	679227	2	238305211	C	T	658833	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2318	380807	2	238322579	A	G	367109	Benign	not_specified	.	.	0.27017	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2319	801915	2	240111870	CG	C	790215	Benign	Brachydactyly-Mental_Retardation_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2320	335152	2	240897085	C	T	285460	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficiency	.	.	0.59045	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2321	335156	2	240897331	G	A	286135	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficiency	.	.	0.25579	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2322	335174	2	240898578	C	T	288875	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficiency	.	.	0.50839	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2323	335183	2	240899346	G	A	286170	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficiency	.	.	0.28674	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2324	335193	2	240900121	C	T	288898	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficiency	.	.	0.2494	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2325	214702	2	240900607	TG	T	210797	Benign/Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficie...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2326	669885	2	240944975	C	T	659026	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2327	129686	2	240946766	T	C	135132	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficie...	0.36769	0.40644	0.35623	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2328	669507	2	240954593	C	T	658965	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2329	669869	2	240957734	G	A	658960	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2330	129685	2	240961728	T	C	135131	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficie...	0.69453	0.66626	0.70248	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2331	669506	2	240964393	CCT	C	659031	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2332	767876	2	240985347	G	A	697464	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2333	5093	2	241531174	G	A	20132	risk_factor	Diabetes_mellitus_type_2	.	.	0.1855	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2334	335233	2	241654958	G	A	286218	Likely_benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.38878	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2335	335240	2	241655544	G	A	288531	Likely_benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.27236	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2336	670495	2	241659368	C	A	659052	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2337	682847	2	241660978	T	C	658972	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2338	671426	2	241676929	G	T	658981	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2339	670535	2	241680633	G	T	659071	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2340	682843	2	241684660	T	C	658996	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2341	672932	2	241685027	G	A	658876	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2342	129389	2	241685586	G	A	134835	Benign/Likely_benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.05727	.	0.05032	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2343	672931	2	241685673	C	T	659075	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2344	672930	2	241690195	C	A	659079	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2345	284274	2	241696840	ATCC	A	268511	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2346	672929	2	241700307	G	T	658887	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2347	672928	2	241700318	C	T	658992	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2348	671033	2	241702561	T	A	659008	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2349	683895	2	241710083	A	G	659084	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2350	682831	2	241713429	T	C	659017	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2351	129396	2	241713646	A	G	134842	Benign/Likely_benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.44856	0.38623	0.51358	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2352	672669	2	241722970	G	A	659090	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2353	674082	2	241726230	C	A	659064	Likely_benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2354	673387	2	241726646	A	G	658923	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2355	204033	2	241808825	AGGCCTCCCT	A	200480	Uncertain_significance	Primary_hyperoxaluria,_type_I	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2356	204041	2	241810957	C	T	200508	Uncertain_significance	Primary_hyperoxaluria,_type_I	.	.	0.23982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2357	204054	2	241815473	G	A	200569	Uncertain_significance	Primary_hyperoxaluria,_type_I	0.42616	0.48223	0.34325	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2358	204057	2	241817322	C	T	200584	Uncertain_significance	Primary_hyperoxaluria,_type_I	.	.	0.2522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2359	204063	2	241818279	C	A	200610	Benign	Primary_hyperoxaluria|Primary_hyperoxaluria,_t...	0.30447	0.3572	0.2522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2360	204064	2	241818527	A	C	200611	Benign	Primary_hyperoxaluria|Primary_hyperoxaluria,_t...	.	.	0.71985	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2361	335307	2	242674104	A	G	285583	Benign	D-2-hydroxyglutaric_aciduria	.	.	0.72444	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2362	158414	2	242674803	G	A	168055	Benign/Likely_benign	D-2-hydroxyglutaric_aciduria|not_specified|not...	0.2736	.	0.22644	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2363	158415	2	242674959	T	G	168057	Likely_benign	not_specified	0.72672	0.68432	0.74241	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2364	158417	2	242680430	A	G	168059	Likely_benign	not_specified	0.56486	.	0.5647	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2365	158421	2	242682029	T	C	168061	Likely_benign	not_specified	0.28443	0.25155	0.23702	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2366	158423	2	242684115	T	C	168063	Benign/Likely_benign	D-2-hydroxyglutaric_aciduria|not_specified|not...	0.55932	0.48836	0.5611	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2367	801922	2	242688366	C	T	790222	Benign	D-2-hydroxyglutaric_aciduria_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2368	158404	2	242690675	G	A	168064	Benign/Likely_benign	D-2-hydroxyglutaric_aciduria|not_specified|not...	0.27081	0.24886	0.22364	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2369	158411	2	242707101	A	G	168071	Likely_benign	not_specified	0.61751	0.52943	0.62999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2370	335332	2	242707638	G	A	289020	Likely_benign	D-2-hydroxyglutaric_aciduria	.	.	0.09844	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2371	335338	2	242707833	C	T	285603	Benign	D-2-hydroxyglutaric_aciduria	.	.	0.53295	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2372	335349	2	242708162	C	T	288640	Benign	D-2-hydroxyglutaric_aciduria	.	.	0.23263	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2373	767883	3	1339680	GGTTTTT	G	777335	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2374	402550	3	1424718	G	A	389529	Benign	not_specified	0.40727	0.44493	0.48343	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2375	669583	3	3170409	G	C	659840	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2376	403570	3	3170792	C	T	389592	Benign	Sideroblastic_anemia_with_B-cell_immunodeficie...	0.90182	0.97223	0.90455	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2377	676433	3	3170966	T	C	659841	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2378	684282	3	3171023	A	G	659968	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2379	669584	3	3171125	G	A	659744	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2380	671437	3	3179400	A	G	659756	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2381	684283	3	3181979	T	TA	659849	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2382	671438	3	3181987	A	T	659670	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2383	684284	3	3182485	A	G	659671	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2384	684285	3	3182500	G	C	659970	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2385	671605	3	3186719	T	G	659853	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2386	684287	3	3188901	A	C	659684	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2387	669585	3	3188914	C	G	659974	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2388	380145	3	3189279	A	G	367091	Benign	not_specified	0.73377	0.79864	0.73902	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2389	380146	3	3189398	A	G	367093	Benign	not_specified	0.58034	0.543	0.40076	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2390	128855	3	3215954	A	G	134303	Benign	not_specified	0.88198	0.96728	0.88379	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2391	345295	3	4403153	T	G	294907	Benign	Multiple_sulfatase_deficiency	.	.	0.48163	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2392	345303	3	4403357	A	C	291214	Benign	Multiple_sulfatase_deficiency	.	.	0.88019	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2393	345304	3	4403364	TCTCA	T	294486	Benign	Multiple_sulfatase_deficiency	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2394	345308	3	4403537	C	T	294930	Benign	Multiple_sulfatase_deficiency	.	.	0.42812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2395	345310	3	4403614	T	C	291220	Benign	Multiple_sulfatase_deficiency	.	.	0.29553	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2396	345312	3	4403767	A	G	291221	Benign	Multiple_sulfatase_deficiency	.	.	0.70447	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2397	558943	3	4403817	TT	AC	549550	Benign	not_specified|not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2398	96559	3	4403837	A	G	102452	Benign	Multiple_sulfatase_deficiency|not_specified|no...	0.65362	0.64405	0.76038	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2399	684132	3	4404087	A	G	660029	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2400	684125	3	4459972	A	G	659939	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2401	684119	3	4461569	G	A	659879	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2402	263009	3	4461698	C	T	251142	Benign	not_specified|not_provided	0.89628	0.96174	0.88678	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2403	129298	3	4712413	G	A	134744	Benign	Spinocerebellar_ataxia_29|not_specified|Spinoc...	0.68085	0.68323	0.61402	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2404	804939	3	4767262	T	C	793026	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2405	129301	3	4829732	A	G	134747	Benign	not_specified|Spinocerebellar_Ataxia,_Dominant	0.30488	0.32942	0.24561	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2406	129302	3	4842231	C	T	134748	Benign	not_specified|Spinocerebellar_Ataxia,_Dominant	0.23085	0.28681	0.26458	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2407	129303	3	4856180	T	C	134749	Benign	not_specified|Spinocerebellar_Ataxia,_Dominant...	0.80256	0.82442	0.79094	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2408	129304	3	4856234	G	A	134750	Benign	not_specified|Spinocerebellar_Ataxia,_Dominant...	0.59549	0.60545	0.58746	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2409	345905	3	4888552	A	T	295090	Likely_benign	Spinocerebellar_Ataxia,_Dominant	.	.	0.01018	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2410	345929	3	4889440	G	T	295184	Benign	Spinocerebellar_Ataxia,_Dominant	.	.	0.26877	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2411	683301	3	8775153	C	T	660042	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2412	31746	3	8775457	G	A	40406	not_provided	not_provided	.	.	0.22404	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2413	31709	3	8775661	C	T	40369	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Long_QT_syndrome|R...	.	0.30104	0.37101	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2414	31706	3	8788198	A	T	40366	Likely_benign	Hypertrophic_cardiomyopathy|Long_QT_syndrome|R...	.	.	0.34824	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2415	31720	3	8788336	A	G	40380	Likely_benign	Hypertrophic_cardiomyopathy|Long_QT_syndrome|R...	.	.	0.27157	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2416	31707	3	8788364	C	G	40367	Likely_benign	Hypertrophic_cardiomyopathy|Long_QT_syndrome|R...	.	.	0.32268	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2417	31727	3	8788485	T	A	40387	not_provided	not_provided	.	.	0.83666	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2418	342394	3	10141184	C	T	291624	Benign	Fanconi_anemia	.	.	0.20607	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2419	257063	3	10142949	C	T	250849	Benign	not_specified	0.30724	0.32813	0.21466	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2420	342397	3	10183337	G	A	291569	Benign	Von_Hippel-Lindau_syndrome	.	.	0.54333	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2421	342407	3	10191943	G	A	287967	Benign	Von_Hippel-Lindau_syndrome	.	.	0.55711	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2422	342424	3	10192672	G	A	287980	Benign	Von_Hippel-Lindau_syndrome	.	.	0.58467	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2423	342425	3	10192709	C	T	291585	Benign	Von_Hippel-Lindau_syndrome	.	.	0.55671	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2424	342451	3	10193509	A	G	287987	Benign	Von_Hippel-Lindau_syndrome	.	.	0.98802	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2425	342459	3	10193683	T	G	291602	Benign	Von_Hippel-Lindau_syndrome	.	.	0.54892	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2426	342491	3	10194624	G	C	288023	Benign	Von_Hippel-Lindau_syndrome	.	.	0.88998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2427	342512	3	10195293	T	TG	288779	Benign	Von_Hippel-Lindau_syndrome	.	.	0.97105	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2428	5062	3	10331457	G	T	20101	Pathogenic,_risk_factor	Metabolic_syndrome,_susceptibility_to|Obesity,...	.	0.08557	0.08327	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2429	343059	3	12526188	G	T	292416	Benign	Pontoneocerebellar_hypoplasia	.	.	0.45447	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2430	667568	3	12533335	A	C	659464	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2431	670254	3	12573336	A	G	659478	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2432	670802	3	12573998	T	C	659482	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2433	343086	3	12574512	G	T	292284	Benign	Pontoneocerebellar_hypoplasia	.	.	0.42193	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2434	343092	3	12625264	CTGTT	C,CTGTTTGTT	289310	Uncertain_significance	Noonan_syndrome|Noonan_syndrome_with_multiple_...	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2435	40624	3	12626516	G	A	49094	Benign	not_specified	0.44241	0.35043	0.36462	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2436	561371	3	12628920	G	C	552548	Benign	not_provided	.	.	0.17832	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2437	561370	3	12632652	G	C	552550	Benign	not_provided	.	.	0.34465	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2438	561369	3	12633083	A	G	552551	Benign	not_provided	.	.	0.18051	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2439	561823	3	12633552	T	C	552553	Benign	not_provided	.	.	0.53854	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2440	561368	3	12641518	A	G	552556	Benign	not_provided	.	.	0.53854	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2441	561588	3	12647457	A	G	552561	Benign	not_provided	.	.	0.19449	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2442	561367	3	12653233	G	T	552569	Benign	not_provided	.	.	0.19469	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2443	561587	3	12653800	A	G	552571	Benign	not_provided	.	.	0.17332	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2444	561522	3	12660466	G	C	552573	Benign	not_provided	.	.	0.19449	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2445	679865	3	14166394	T	C	659746	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2446	672164	3	14166835	C	T	659555	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2447	672172	3	14166872	C	T	659554	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2448	669015	3	14172827	C	T	659751	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2449	672173	3	14173963	G	T	659564	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2450	671030	3	14174146	T	C	659662	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2451	46148	3	14174427	A	T	55313	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.28756	0.32087	0.35264	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2452	46150	3	14175262	T	C	55315	Benign/Likely_benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.33277	0.37237	0.46326	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2453	671031	3	14176446	G	A	659571	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2454	672174	3	14177194	T	C	659764	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2455	672175	3	14180552	A	G	659771	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2456	671209	3	14180633	C	T	659780	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2457	343511	3	14183410	T	C	288952	Benign/Likely_benign	Xeroderma_pigmentosum|Arrhythmogenic_right_ven...	.	.	0.6891	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2458	343518	3	14183758	A	G	288959	Likely_benign	Xeroderma_pigmentosum|Arrhythmogenic_right_ven...	.	.	0.09265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2459	343523	3	14184074	A	C	288962	Likely_benign	Xeroderma_pigmentosum|Arrhythmogenic_right_ven...	.	.	0.12999	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2460	343535	3	14184669	T	C	292665	Likely_benign	Xeroderma_pigmentosum|Arrhythmogenic_right_ven...	.	.	0.10483	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2461	343536	3	14184719	T	C	289712	Likely_benign	Xeroderma_pigmentosum|Arrhythmogenic_right_ven...	.	.	0.13059	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2462	343550	3	14186757	C	G	292973	Benign/Likely_benign	Xeroderma_pigmentosum|Arrhythmogenic_right_ven...	.	.	0.91893	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2463	343551	3	14186823	T	C	288985	Likely_benign	Xeroderma_pigmentosum|Arrhythmogenic_right_ven...	.	0.12879	0.10783	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2464	343552	3	14186830	A	T	288989	Likely_benign	Xeroderma_pigmentosum|Arrhythmogenic_right_ven...	.	.	0.10823	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2465	343560	3	14187345	G	C	289736	Benign/Likely_benign	Xeroderma_pigmentosum|Arrhythmogenic_right_ven...	.	0.35332	0.25499	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2466	190215	3	14187449	G	T	187973	drug_response	Xeroderma_pigmentosum|Arrhythmogenic_right_ven...	0.64206	0.63254	0.6847	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2467	259471	3	14187699	T	C	250965	Benign	not_specified	0.65488	0.64668	0.69429	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2468	259470	3	14188762	G	C	250966	Benign	not_specified	0.4272	0.47317	0.32788	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2469	190214	3	14190237	T	G	187976	Benign	Xeroderma_pigmentosum|not_specified|not_provided	0.63534	0.63016	0.67971	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2470	259469	3	14190268	G	C	250967	Benign	not_specified	0.42688	.	0.32788	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2471	135469	3	14193889	C	T	139208	Benign	Xeroderma_pigmentosum|not_specified	0.26583	0.27341	0.23542	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2472	190212	3	14197987	A	T	187977	Benign	not_specified	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2473	135485	3	14199887	G	A	139224	Benign	Xeroderma_pigmentosum|not_specified	0.20058	0.23775	0.23303	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2474	259472	3	14208625	G	C	250973	Benign	not_specified	0.33404	0.32153	0.35563	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2475	259465	3	14220095	C	G	250975	Benign	Xeroderma_pigmentosum|not_specified	0.43468	0.42109	0.32788	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2476	343823	3	15491756	G	A	293420	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.38858	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2477	343828	3	15492150	C	T	293014	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.38858	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2478	343835	3	15492636	G	A	289150	Likely_benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.0617	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2479	343839	3	15492786	T	A	293024	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.45288	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2480	343840	3	15492807	G	A	289955	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.48023	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2481	128825	3	15495386	G	A	134274	Benign/Likely_benign	Endplate_acetylcholinesterase_deficiency|not_s...	0.02706	0.02975	0.01518	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2482	679264	3	15495644	T	C	659854	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2483	679263	3	15495654	A	G	659641	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2484	668111	3	15495764	G	A	659646	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2485	679262	3	15498261	T	C	659856	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2486	679261	3	15498272	G	A	659648	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2487	128827	3	15499713	T	C	134276	Benign/Likely_benign	Endplate_acetylcholinesterase_deficiency|not_s...	0.05705	.	0.05252	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2488	679260	3	15507761	G	A	659858	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2489	679259	3	15508160	T	TCTGTC	659866	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2490	801939	3	15509327	C	G	790344	Benign	Endplate_acetylcholinesterase_deficiency	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2491	259862	3	15515695	C	T	250990	Benign	not_specified|not_provided	0.47401	0.43139	0.47963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2492	679257	3	15515918	C	G	659623	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2493	259860	3	15516481	T	C	250992	Benign	not_specified|not_provided	0.37037	0.38252	0.38598	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2494	679255	3	15516820	C	T	659867	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2495	259859	3	15516910	T	C	250993	Benign	not_specified|not_provided	0.36866	0.46652	0.38598	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2496	679253	3	15517025	G	A	659628	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2497	259857	3	15518731	G	C	250994	Benign	not_specified|not_provided	0.38096	0.45599	0.40236	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2498	679251	3	15518841	G	A	659632	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2499	679250	3	15518889	T	C	659873	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2500	679249	3	15520244	C	T	659875	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2501	679247	3	15520639	T	G	659635	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2502	679246	3	15520677	G	T	659754	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2503	128826	3	15520838	T	C	134275	Benign/Likely_benign	Endplate_acetylcholinesterase_deficiency|not_s...	0.04813	0.03192	0.03574	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2504	668110	3	15529405	C	A	659757	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2505	679245	3	15529543	T	C	659878	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2506	679244	3	15562801	T	C	659886	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2507	369412	3	15563268	C	G	353641	Benign	Congenital_Myasthenic_Syndrome,_Recessive	.	.	0.42013	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2508	1900	3	15686693	G	C	16939	Pathogenic/Likely_pathogenic	Biotinidase_deficiency|not_provided	.	0.03166	0.01857	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2509	344532	3	24158647	C	T	289816	Benign	Thyroid_Hormone_Resistance	.	.	0.19449	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2510	344533	3	24158691	C	T	289819	Benign	Thyroid_Hormone_Resistance	.	.	0.14237	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2511	344545	3	24159387	A	G	290576	Benign	Thyroid_Hormone_Resistance	.	.	0.48023	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2512	344584	3	24161493	C	T	294308	Benign	Thyroid_Hormone_Resistance	.	.	0.12979	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2513	344586	3	24161713	AG	A	289852	Benign	Thyroid_Hormone_Resistance	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2514	344613	3	24163021	T	C	293766	Benign	Thyroid_Hormone_Resistance	.	.	0.50539	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2515	198422	3	24184995	G	A	195583	Benign	Thyroid_Hormone_Resistance|not_specified	0.15362	0.15555	0.15755	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2516	344640	3	24270500	G	GA	293815	Benign	Thyroid_Hormone_Resistance	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2517	198889	3	25775356	A	C	196049	Benign	not_specified	0.82193	0.84045	0.80032	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2518	774296	3	26751736	C	T	698018	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2519	344653	3	30648248	C	G	290674	Benign	Marfan_syndrome|Loeys-Dietz_syndrome|Thoracic_...	.	.	0.1262	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2520	683997	3	30691473	G	A	659943	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2521	684002	3	30692219	T	C	659667	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2522	684003	3	30712827	A	C	659732	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2523	678626	3	30729636	G	A	659737	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2524	161394	3	30733044	T	A	171083	Conflicting_interpretations_of_pathogenicity	Connective_tissue_disorder|Marfan_syndrome|Con...	0.00138	0.0014	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2525	344681	3	30733838	C	G	293839	Benign	Marfan_syndrome|Loeys-Dietz_syndrome|Thoracic_...	.	.	0.11482	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2526	380173	3	31641835	C	A	367350	Benign	not_specified	0.05462	0.06849	0.03714	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2527	683540	3	32147913	G	A	659761	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2528	671016	3	32147977	T	G	659862	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2529	260571	3	32181761	C	T	251091	Benign/Likely_benign	Brugada_syndrome|not_specified|Cardiovascular_...	0.1903	0.12859	0.14976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2530	678494	3	32187880	A	G	659863	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2531	671832	3	32187943	G	T	659705	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2532	671834	3	32188006	G	A	659706	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2533	678496	3	32200123	A	G	659770	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2534	671835	3	32200233	G	A	659709	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2535	672397	3	32200913	G	A	659776	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2536	344741	3	32208039	C	T	289976	Likely_benign	Brugada_syndrome	.	.	0.09365	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2537	344742	3	32208121	A	C	293909	Likely_benign	Brugada_syndrome	.	.	0.07768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2538	344745	3	32208352	C	T	294385	Likely_benign	Brugada_syndrome	.	.	0.09645	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2539	344747	3	32208431	A	G	294388	Likely_benign	Brugada_syndrome	.	.	0.59844	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2540	344750	3	32208467	T	G	289987	Likely_benign	Brugada_syndrome	.	.	0.501	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2541	344764	3	32209230	T	C	289999	Likely_benign	Brugada_syndrome	.	.	0.55431	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2542	344771	3	32209750	T	C	294397	Likely_benign	Brugada_syndrome	.	.	0.57029	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2543	344773	3	32209927	A	G	290755	Likely_benign	Brugada_syndrome	.	.	0.57029	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2544	167145	3	33055721	A	G	177749	Benign	not_specified	0.93264	0.98004	0.92712	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2545	558920	3	33065715	C	G	549548	Likely_benign	not_provided	0.01278	.	0.00359	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2546	678119	3	33093190	T	C	659781	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2547	678118	3	33093628	A	C	659984	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2548	677897	3	33099880	T	C	659724	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2549	678493	3	33109487	T	C	659990	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2550	678066	3	33110190	G	T	659883	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2551	678065	3	33110656	T	C	659991	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2552	92905	3	33138544	A	G	98812	Benign	Morquio_syndrome|GM1_gangliosidosis|not_specif...	0.88256	0.90516	0.92772	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2553	92904	3	33138549	G	A	98811	Benign	Morquio_syndrome|GM1_gangliosidosis|not_specif...	0.47396	.	0.43191	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2554	674862	3	33155385	T	C	659728	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2555	193339	3	33155782	G	A	190503	Benign	Osteogenesis_imperfecta_type_7|not_specified|O...	0.125	0.21874	0.249	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2556	667634	3	33156196	T	C	659729	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2557	669818	3	33160990	A	ATTT	659735	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2558	195265	3	33161898	C	T	192426	Benign	Osteogenesis_imperfecta_type_7|not_specified|O...	0.16569	0.17037	0.28235	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2559	379754	3	33165884	T	C	367110	Benign	not_specified	0.00369	0.00391	0.0022	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2560	674863	3	33171659	A	G	659993	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2561	259968	3	33174156	T	G	251097	Benign	Osteogenesis_imperfecta_type_7|not_specified|O...	0.38436	.	0.29353	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2562	259969	3	33174168	G	A	251098	Benign	Osteogenesis_imperfecta_type_7|not_specified|O...	0.38428	0.3751	0.29353	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2563	667635	3	33174495	A	G	659995	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2564	667636	3	33174497	G	GA	659740	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2565	674864	3	33175793	C	A	659753	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2566	675028	3	33175854	A	G	659762	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2567	344831	3	33185027	G	GGAACTA	294471	Benign	Osteogenesis_Imperfecta,_Recessive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2568	344838	3	33185407	G	A	290810	Benign	Osteogenesis_Imperfecta,_Recessive	.	.	0.30192	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2569	344843	3	33185798	T	A	293982	Benign	Osteogenesis_Imperfecta,_Recessive	.	.	0.89597	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2570	344851	3	33186356	T	C	294489	Benign	Osteogenesis_Imperfecta,_Recessive	.	.	0.36102	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2571	344869	3	33187425	G	A	290109	Benign	Osteogenesis_Imperfecta,_Recessive	.	.	0.31989	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2572	344875	3	33187831	C	T	290115	Benign	Osteogenesis_Imperfecta,_Recessive	.	.	0.30371	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2573	89594	3	37030175	C	A	95068	Benign	Lynch_syndrome	.	.	0.40395	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2574	89600	3	37034946	G	A	95074	Benign	Hereditary_cancer-predisposing_syndrome|Lynch_...	.	.	0.32049	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2575	90024	3	37038771	C	T	95498	Benign	Lynch_syndrome	.	.	0.30871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2576	90146	3	37042960	A	C	95620	Benign	Lynch_syndrome	.	.	0.24501	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2577	90227	3	37048633	A	G	95701	Benign	Lynch_syndrome|not_specified	.	.	0.30931	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2578	36557	3	37053568	A	G	45219	Benign	Hereditary_cancer-predisposing_syndrome|Lynch_...	0.24297	0.23254	0.12959	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2579	90366	3	37056990	C	A	95840	Benign	Lynch_syndrome	.	.	0.30931	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2580	90368	3	37057591	C	T	95842	Benign	Lynch_syndrome	.	.	0.24501	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2581	89615	3	37062040	T	C	95089	Benign	Lynch_syndrome	.	.	0.30931	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2582	89611	3	37062959	G	T	95085	Benign	Lynch_syndrome	.	.	0.29014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2583	89625	3	37067050	A	G	95099	Benign	Lynch_syndrome|not_specified	.	.	0.24641	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2584	89773	3	37072627	A	C	95247	Benign	Lynch_syndrome	.	.	0.2532	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2585	89785	3	37078506	A	G	95259	Benign	Lynch_syndrome	.	.	0.24521	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2586	89830	3	37082874	T	C	95304	Benign	Lynch_syndrome	.	.	0.26298	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2587	36542	3	37083740	A	G	45204	Benign	Hereditary_cancer-predisposing_syndrome|Lynch_...	0.43833	0.37125	0.3123	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2588	89983	3	37090274	C	T	95457	Benign	Lynch_syndrome|not_specified	.	.	0.30391	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2589	89585	3	37095070	C	T	95059	Benign	Lynch_syndrome	.	.	0.39697	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2590	402987	3	37535984	C	G	389600	Benign	not_specified	0.52045	0.57251	0.53275	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2591	402989	3	37574951	G	A	389568	Benign	not_specified	0.54344	0.57278	0.5591	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2592	257468	3	38519424	A	G	251100	Benign	Heterotaxia|Heterotaxy,_visceral,_4,_autosomal...	0.52276	0.5683	0.48043	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2593	257470	3	38521156	T	C	251101	Benign	Heterotaxia|Heterotaxy,_visceral,_4,_autosomal...	0.44149	0.48531	0.35643	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2594	257467	3	38524742	C	T	251104	Benign	Heterotaxia|Heterotaxy,_visceral,_4,_autosomal...	0.43857	0.48508	0.35324	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2595	344937	3	38525567	T	C	290945	Benign	Heterotaxia	.	.	0.35344	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2596	344939	3	38525734	C	T	294052	Benign	Heterotaxia	.	.	0.61022	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2597	344940	3	38525864	A	C	290157	Benign	Heterotaxia	.	.	0.35224	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2598	344943	3	38526166	CAA	C	294576	Benign	Heterotaxia	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2599	344967	3	38527215	T	C	290957	Benign	Heterotaxia	.	.	0.38578	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2600	344974	3	38527913	C	T	290185	Benign	Heterotaxia	.	.	0.61621	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2601	344981	3	38528537	G	T	294662	Benign	Heterotaxia	.	.	0.35324	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2602	344991	3	38529440	C	G	294205	Benign	Heterotaxia	.	.	0.61082	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2603	344995	3	38529818	C	T	290974	Benign	Heterotaxia	.	.	0.35324	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2604	344996	3	38529825	C	T	290975	Benign	Heterotaxia	.	.	0.32188	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2605	345010	3	38531211	T	G	294237	Benign	Heterotaxia	.	.	0.44728	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2606	345025	3	38532511	G	A	294684	Benign	Heterotaxia	.	.	0.35324	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2607	345032	3	38533335	A	C	290212	Benign	Heterotaxia	.	.	0.44728	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2608	345077	3	38590358	C	CT	294718	Likely_benign	Sick_sinus_syndrome|Long_QT_syndrome|Romano-Wa...	.	.	0.31689	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2609	345092	3	38591059	G	A	291055	Likely_benign	Sick_sinus_syndrome|Long_QT_syndrome|Romano-Wa...	.	.	0.11442	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2610	345108	3	38591689	T	C	294382	Likely_benign	Sick_sinus_syndrome|Long_QT_syndrome|Romano-Wa...	.	.	0.49441	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2611	48307	3	38592406	A	G	57470	Benign/Likely_benign	Arrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...	0.43144	0.38781	0.49241	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2612	680772	3	38597558	A	G	659791	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2613	680800	3	38598459	C	T	659801	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2614	671861	3	38598956	A	G	659799	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2615	680771	3	38599037	G	A	659902	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2616	48297	3	38622467	T	C	57460	Benign/Likely_benign	Arrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...	0.88497	.	0.92312	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2617	671859	3	38627629	A	G	659814	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2618	671843	3	38627658	T	TCCC,TCC	660041	Benign	not_provided	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2619	678034	3	38628642	A	G	659913	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2620	678033	3	38628661	C	A	659809	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2621	48289	3	38645420	T	C	38447	Benign/Likely_benign	Arrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...	.	0.22174	0.23043	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2622	257437	3	38646423	C	T	251108	Benign	not_specified	0.18485	0.21916	0.17512	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2623	678604	3	38646625	C	T	659916	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2624	48280	3	38647642	G	T	57444	Benign/Likely_benign	Arrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...	0.16642	0.17223	0.15116	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2625	671842	3	38647780	G	C	659848	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2626	671841	3	38649924	T	C	659919	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2627	680765	3	38654971	G	A	659859	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2628	671840	3	38663707	C	T	660060	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2629	671839	3	38664164	T	G	660066	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2630	680768	3	38671474	C	T	659824	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2631	678603	3	38671560	A	G	659928	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2632	48318	3	38674712	T	C	57481	Benign/Likely_benign	Arrhythmia|Sick_sinus_syndrome|Long_QT_syndrom...	0.83596	0.77367	0.78175	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2633	259999	3	38739574	T	C	251110	Benign	Brugada_syndrome_1|not_specified	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2634	95404	3	38739845	A	G	101303	Benign	not_specified	0.93049	0.91991	0.92472	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2635	669293	3	38749026	T	A	659827	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2636	259996	3	38766675	A	G	251113	Benign	not_specified	0.70252	0.65856	0.75799	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2637	259994	3	38768247	G	A	251115	Benign	not_specified	0.19007	0.23496	0.1905	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2638	95401	3	38768300	T	C	101300	Benign	not_specified	0.21029	0.24093	0.21066	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2639	669327	3	38770639	C	G	660090	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2640	259993	3	38784029	T	C	251116	Benign	not_specified	0.69752	0.65368	0.75779	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2641	259992	3	38793989	G	A	251117	Benign	not_specified	0.20301	0.24302	0.20767	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2642	668846	3	38796985	A	G	659958	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2643	259991	3	38798171	C	T	251118	Benign	not_specified	0.20237	0.23438	0.20747	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2644	669276	3	38798836	C	T	659898	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2645	260000	3	38802251	A	G	251119	Benign	not_specified	0.30571	0.32987	0.38878	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2646	670898	3	38813009	T	C	659844	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2647	260336	3	38926912	C	G	251120	Benign	not_specified	0.63732	0.5575	0.59944	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2648	260335	3	38936134	C	T	251121	Benign	not_specified	0.2046	.	0.15355	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2649	260334	3	38945560	A	G	251122	Benign	not_specified	0.60741	0.65145	0.61242	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2650	242801	3	39307256	C	T	23191	.	.	.	0.22093	0.14437	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2651	721354	3	39307425	A	G	734051	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2652	281680	3	39431081	G	A	265917	Benign	Refractory_anemia_with_ringed_sideroblasts_(cl...	0.36975	0.48199	0.41613	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2653	671096	3	39432247	C	T	660003	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2654	403583	3	41841716	A	C	389614	Benign	not_specified	0.87704	0.85123	0.87001	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2655	403584	3	41925398	C	T	389585	Benign	not_specified	0.6831	0.78848	0.6885	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2656	403585	3	41925423	T	C	389558	Benign	not_specified	0.92384	0.97695	0.91933	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2657	403586	3	41937000	C	T	389570	Benign	not_specified	0.67305	0.7785	0.6881	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2658	403587	3	41938500	G	C	389595	Benign	not_specified	0.92411	0.97689	0.91893	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2659	403588	3	41939993	T	A	389560	Benign	not_specified	.	0.95464	0.69808	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2660	403589	3	41957466	T	G	389621	Benign	not_specified	0.67557	.	0.68131	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2661	403590	3	41960006	T	C	389563	Benign	not_specified	0.67473	0.78474	0.67991	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2662	403591	3	41996136	T	C	389597	Benign	not_specified	0.67839	0.78694	0.68211	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2663	226688	3	42728144	A	G	229062	Benign	not_specified	0.5599	0.64885	0.6226	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2664	682890	3	42733174	G	C	659937	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2665	682889	3	42733341	T	C	659874	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2666	226689	3	42733468	T	C	229063	Benign	not_specified	0.80517	0.81677	0.89976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2667	262104	3	43121559	C	T	251133	Benign	not_specified	0.80432	0.78602	0.78275	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2668	262102	3	43122966	G	A	251138	Benign	not_specified	0.38497	.	0.45248	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2669	128388	3	43591327	G	A	133837	Benign/Likely_benign	Spinocerebellar_ataxia,_autosomal_recessive_10...	0.05559	0.04793	0.03694	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2670	128387	3	43602803	C	T	133836	Benign	Spinocerebellar_ataxia,_autosomal_recessive_10...	0.5569	0.6505	0.66314	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2671	260993	3	43607136	T	C	251139	Benign	Spinocerebellar_ataxia,_autosomal_recessive_10...	0.52679	0.68496	0.63678	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2672	128386	3	43618280	T	C	133835	Benign/Likely_benign	Spinocerebellar_ataxia,_autosomal_recessive_10...	0.06797	0.05077	0.04872	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2673	345238	3	43761368	ATAG	A	294528	Benign	Triglyceride_storage_disease_with_ichthyosis	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2674	345240	3	43761441	A	G	290409	Benign	Triglyceride_storage_disease_with_ichthyosis	.	.	0.54872	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2675	717832	3	44828059	C	T	720454	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2676	684236	3	45436473	G	A	660032	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2677	684161	3	45459287	T	G	660114	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2678	684169	3	45460914	T	C	659941	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2679	669494	3	45461483	A	G	660117	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2680	684172	3	45517799	T	C	659891	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2681	676142	3	45527099	C	G	660132	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2682	226691	3	45527218	T	C	229072	Benign	not_specified|not_provided	0.77418	0.90257	0.78295	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2683	684174	3	45527484	T	C	659950	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2684	684176	3	45529865	C	T	659951	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2685	226693	3	45533224	G	A	229074	Benign	not_specified|not_provided	0.77426	.	0.78275	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2686	226698	3	45557707	G	A	229079	Benign	not_specified|not_provided	0.28372	0.28568	0.24621	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2687	226700	3	45559519	T	C	229082	Benign	not_specified|not_provided	0.85145	0.95151	0.84944	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2688	676144	3	45559621	C	T	659906	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2689	226704	3	45565554	A	G	229089	Benign	not_specified|not_provided	0.86868	0.95754	0.86082	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2690	684184	3	45565865	G	A	660178	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2691	676145	3	45583297	C	T	660184	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2692	345340	3	45796951	C	T	291372	Likely_benign	Hyperglycinuria	.	.	0.2482	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2693	345349	3	45797785	A	G	290496	Likely_benign	Hyperglycinuria	.	.	0.96406	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2694	345365	3	45798682	CTT	C	291398	Likely_benign	Hyperglycinuria	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2695	345374	3	45799126	C	T	291401	Uncertain_significance	Hyperglycinuria	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2696	345387	3	45799871	C	T	294639	Likely_benign	Hyperglycinuria	.	.	0.96346	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2697	345390	3	45799933	A	G	290548	Likely_benign	Hyperglycinuria	.	0.1	0.04692	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2698	345420	3	45817418	A	G	290570	Likely_benign	Hyperglycinuria	0.96171	0.95651	0.94888	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2699	345428	3	45837886	G	C	294713	Likely_benign	Hyperglycinuria	0.11156	0.12786	0.08846	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2700	345435	3	45959515	A	T	295094	Benign	Congenital_cataract	.	.	0.92173	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2701	345439	3	45959759	T	C	290594	Benign	Congenital_cataract	.	.	0.40994	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2702	345443	3	45959999	TA	T	295105	Benign	Congenital_cataract	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2703	345445	3	45960079	C	A	291474	Benign	Congenital_cataract	.	.	0.92173	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2704	345459	3	45960851	C	T	291505	Benign	Congenital_cataract	.	.	0.39956	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2705	345469	3	45961842	C	T	295130	Benign	Congenital_cataract	.	.	0.92013	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2706	345481	3	45962595	C	G	295144	Benign	Congenital_cataract	.	.	0.38558	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2707	345484	3	45962752	T	C	291519	Benign	Congenital_cataract	.	.	0.8151	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2708	345486	3	45962802	T	C	294752	Benign	Congenital_cataract	.	.	0.94269	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2709	345487	3	45962942	C	T	295148	Benign	Congenital_cataract	.	.	0.40974	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2710	261734	3	45996761	G	A	251149	Benign	Congenital_cataract|not_specified|not_provided	0.77095	0.79208	0.86721	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2711	261722	3	46008790	G	A	251159	Benign	Congenital_cataract|not_specified|not_provided	0.33313	0.43032	0.39517	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2712	261738	3	46009864	C	G	251164	Benign	Congenital_cataract|not_specified|not_provided	0.44318	0.56701	0.53295	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2713	261736	3	46010077	C	T	251166	Benign	Congenital_cataract|not_specified|not_provided	0.83208	.	0.92812	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2714	261725	3	46016851	A	T	251167	Benign	Congenital_cataract|not_specified	0.32685	0.43051	0.38698	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2715	261723	3	46021218	G	T	251168	Benign	Congenital_cataract|not_specified|not_provided	0.65808	0.79893	0.76298	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2716	8184	3	46414943	TACAGTCAGTATCAATTCTGGAAGAATTTCCAG	T	23223	Benign	West_nile_virus,_susceptibility_to|Resistance_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2717	47962	3	46751073	TAAG	T	57126	Benign	Deafness,_autosomal_recessive_6|not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2718	345596	3	46944274	T	C	295275	Benign	Metaphyseal_chondrodysplasia|Chondrodysplasia	0.67969	0.61407	0.64337	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2719	260575	3	47033937	C	T	251172	Benign	not_specified	0.46505	0.58294	0.47224	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2720	260582	3	47043538	C	T	251179	Benign	Gray_platelet_syndrome|not_specified	0.45245	0.56567	0.47165	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2721	345670	3	47043730	C	T	291769	Conflicting_interpretations_of_pathogenicity	Gray_platelet_syndrome|not_provided	0.003	0.00566	0.0008	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2722	260584	3	47044122	A	T	251181	Benign	Gray_platelet_syndrome|not_specified	0.94886	0.98735	0.94928	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2723	260586	3	47045739	C	G	251183	Benign	Gray_platelet_syndrome|not_specified	0.4721	.	0.47205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2724	260588	3	47046842	G	C	251185	Benign	not_specified	0.55671	0.56113	0.54653	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2725	260589	3	47047176	A	AG	251186	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2726	260590	3	47047358	A	C	251187	Benign	not_specified	0.23657	0.29821	0.23403	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2727	345697	3	47050908	AG	A	294982	Benign	Gray_platelet_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2728	436678	3	47103861	GTT	G,GT	428201	Likely_benign	not_specified	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2729	135202	3	47125385	G	A	138941	Benign	not_specified|not_provided	0.47132	.	0.46985	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2730	475524	3	47129609	G	A	452755	Benign	not_provided	0.00431	0.00348	0.001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2731	586533	3	47162661	A	G	576751	Benign	not_provided	0.64478	0.6343	0.67832	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2732	345769	3	48507667	T	C	291833	Benign	Aicardi_Goutieres_syndrome|Vasculopathy,_retin...	.	.	0.11482	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2733	255115	3	48602523	G	GGGC	251191	Likely_benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2734	255108	3	48624611	C	T	251198	Benign	Dystrophic_epidermolysis_bullosa|not_specified	0.47586	0.35726	0.43051	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2735	255107	3	48625266	T	C	251199	Benign	Dystrophic_epidermolysis_bullosa|not_specified	0.77364	.	0.68111	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2736	255103	3	48628014	G	A	251203	Benign	Dystrophic_epidermolysis_bullosa|Recessive_dys...	0.10226	0.11916	0.09904	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2737	92883	3	48897078	A	G	98790	Benign	not_specified	0.99331	0.99135	0.99521	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2738	683820	3	48900347	G	A	659914	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2739	380004	3	49137904	G	T	367668	Benign	not_specified	0.63402	0.73037	0.75799	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2740	380775	3	49507847	G	A	367325	Benign	not_specified	.	.	0.58287	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2741	226558	3	49548008	C	G	229102	Benign	Limb-girdle_muscular_dystrophy-dystroglycanopa...	0.97301	0.99231	0.96586	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2742	31753	3	49548294	T	C	40413	Benign	not_specified|not_provided	0.97324	0.99248	0.96586	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2743	31754	3	49568095	G	A	40414	Benign	not_provided	.	.	0.96605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2744	31757	3	49570882	T	C	40417	not_provided	not_provided	.	0.56387	0.55411	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2745	668904	3	49761571	G	A	660047	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2746	668902	3	49761605	C	T	660053	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2747	668901	3	49761613	C	T	659920	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2748	346060	3	50233215	T	G	291130	Benign	Congenital_Stationary_Night_Blindness,_Dominant	.	.	0.32388	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2749	346062	3	50233317	C	T	295475	Benign	Congenital_Stationary_Night_Blindness,_Dominant	.	.	0.21605	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2750	346070	3	50234126	A	G	292121	Benign	Congenital_Stationary_Night_Blindness,_Dominant	.	.	0.59385	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2751	7091	3	50649499	A	T	22130	Affects,_risk_factor	Tuberculosis,_susceptibility_to|Susceptibility...	.	.	0.71985	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2752	478413	3	52378540	G	C	452896	Benign	SPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...	0.03564	0.03595	0.03055	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2753	478430	3	52383340	C	T	452892	Benign	SPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...	0.03565	0.03465	0.02776	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2754	402598	3	52391735	A	C	389573	Benign	not_specified	0.18507	0.18817	0.16114	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2755	402599	3	52400740	G	C	389631	Benign	not_specified	0.18652	.	0.15296	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2756	478382	3	52426884	C	T	453030	Benign	SPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...	0.03923	.	0.02995	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2757	478396	3	52429665	C	T	453316	Benign	SPERMATOGENIC_FAILURE_18|Ciliary_dyskinesia,_p...	0.03931	0.03811	0.02995	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2758	402605	3	52430698	A	G	389649	Benign	not_specified	0.99549	.	0.99641	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2759	346111	3	52435860	G	A	292135	Likely_benign	Tumor_susceptibility_linked_to_germline_BAP1_m...	.	.	0.02816	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2760	676905	3	52441606	A	T	660247	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2761	671944	3	52488202	C	T	660250	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2762	716630	3	52514271	C	T	720568	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2763	346142	3	53123032	C	T	292152	Benign	Congenital_disorder_of_glycosylation	.	.	0.71845	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2764	346143	3	53123079	A	T	295729	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.16993	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2765	346172	3	53125297	G	C	295628	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.16693	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2766	346174	3	53125429	A	T	295786	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.14796	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2767	346175	3	53125469	G	A	291224	Benign	Congenital_disorder_of_glycosylation	.	.	0.65076	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2768	440191	3	53220000	A	G	433862	Conflicting_interpretations_of_pathogenicity	not_provided	0.001	0.00089	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2769	403345	3	53220215	G	A	390582	Benign	not_specified	0.29671	0.27574	0.28215	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2770	403346	3	53222761	C	T	390583	Benign	not_specified	0.75827	0.74805	0.71346	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2771	403347	3	53223927	C	G	390584	Benign	not_specified	0.93349	0.96547	0.90196	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2772	403348	3	53224002	T	C	390585	Benign	not_specified	0.93926	0.98348	0.9405	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2773	518347	3	53766026	T	C	508788	Benign	Sinoatrial_node_dysfunction_and_deafness	0.86706	0.88867	0.91094	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2774	226470	3	53769479	C	T	229117	Benign	Sinoatrial_node_dysfunction_and_deafness|not_s...	0.2545	0.29936	0.19229	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2775	346219	3	55500700	A	G	295678	Benign	Robinow_syndrome,_autosomal_dominant_1	.	.	0.0643	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2776	346220	3	55500924	TG	T	292266	Benign	Robinow_syndrome,_autosomal_dominant_1	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2777	346223	3	55501002	G	C	291265	Benign	Robinow_syndrome,_autosomal_dominant_1	.	.	0.80951	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2778	346235	3	55501843	C	CA	292289	Benign	Robinow_syndrome,_autosomal_dominant_1	.	.	0.13059	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2779	346242	3	55502251	G	A	295824	Benign	Robinow_syndrome,_autosomal_dominant_1	.	.	0.1232	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2780	346260	3	55503309	AT	A	295848	Benign	Robinow_syndrome,_autosomal_dominant_1	.	.	0.1228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2781	402505	3	56591278	T	TGGGGTAAGCA	390507	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2782	402630	3	57335876	C	T	389587	Benign	not_specified	0.57687	0.61841	0.66514	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2783	402631	3	57386148	C	G	390439	Benign	not_specified	0.19329	0.29934	0.27736	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2784	402632	3	57388114	C	T	390440	Benign	not_specified	0.55694	0.53665	0.58646	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2785	402633	3	57414071	G	A	389575	Benign	not_specified	.	0.54425	0.59045	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2786	402635	3	57414434	A	G	389613	Benign	not_specified	0.20894	0.31811	0.29992	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2787	402636	3	57419497	C	T	389577	Benign	not_specified	0.4021	0.50071	0.40415	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2788	402637	3	57430988	G	A	389618	Benign	not_specified	0.4286	0.52935	0.42093	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2789	402638	3	57431985	G	A	389622	Benign	not_specified	0.43408	0.53725	0.42512	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2790	402639	3	57443817	T	C	389580	Benign	not_specified	0.6682	0.71851	0.63239	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2791	402640	3	57456371	T	C	389593	Benign	not_specified	0.66842	0.71653	0.63159	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2792	402641	3	57469097	C	T	389651	Benign	not_specified	0.659	0.71297	0.63159	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2793	402642	3	57475351	T	G	389594	Benign	not_specified	0.66864	.	0.63359	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2794	516749	3	57882601	C	T	500813	Benign	not_specified	0.21083	0.29594	0.29952	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2795	683067	3	57994719	T	A	660265	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2796	670721	3	58063303	G	C	659986	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2797	671372	3	58063309	G	C	660063	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2798	671375	3	58063331	C	T	659987	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2799	683105	3	58108515	T	C	659944	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2800	683107	3	58108551	T	C	659947	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2801	258106	3	58109162	G	A	251255	Benign/Likely_benign	not_specified|FLNB-Related_Spectrum_Disorders	0.30063	0.37322	0.54613	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2802	671078	3	58109748	T	A	659949	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2803	671079	3	58109772	A	G	659954	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2804	671095	3	58111761	G	A	660007	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2805	671101	3	58112062	G	A	660009	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2806	258110	3	58112440	A	G	251258	Benign/Likely_benign	not_specified|FLNB-Related_Spectrum_Disorders	0.72559	0.7079	0.83327	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2807	258111	3	58112488	C	T	251259	Benign/Likely_benign	not_specified|FLNB-Related_Spectrum_Disorders	0.40243	0.40909	0.64856	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2808	671102	3	58116316	A	G	660281	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2809	683109	3	58117375	T	G	660013	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2810	258114	3	58118555	G	A	251262	Benign/Likely_benign	not_specified|FLNB-Related_Spectrum_Disorders	0.35999	0.39517	0.60823	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2811	671106	3	58118935	A	G	660107	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2812	683137	3	58122160	T	C	660112	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2813	258119	3	58145263	G	A	251266	Benign	not_specified	0.62725	0.66979	0.7486	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2814	258122	3	58154327	C	T	251269	Benign/Likely_benign	not_specified|FLNB-Related_Spectrum_Disorders	0.33677	0.3852	0.57129	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2815	683176	3	58154671	T	C	660026	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2816	683177	3	58156176	G	A	660031	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2817	346385	3	58157519	G	C	295902	Likely_benign	FLNB-Related_Spectrum_Disorders	.	.	0.69309	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2818	346397	3	58413405	T	C	295906	Benign	Pyruvate_dehydrogenase_complex_deficiency	.	0.48887	0.36741	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2819	346398	3	58413408	A	G	295935	Benign	Pyruvate_dehydrogenase_complex_deficiency	.	.	0.1847	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2820	346399	3	58413465	G	C	292522	Benign	Pyruvate_dehydrogenase_complex_deficiency	.	0.79502	0.74181	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2821	346400	3	58413518	T	G	292523	Benign	Pyruvate_dehydrogenase_complex_deficiency	.	0.29444	0.20048	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2822	346402	3	58413662	G	A	291384	Benign	Pyruvate_dehydrogenase_complex_deficiency	.	0.40836	0.36721	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2823	346403	3	58413669	G	T	295938	Benign	Pyruvate_dehydrogenase_complex_deficiency	.	.	0.20467	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2824	669536	3	58415263	T	A	660122	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2825	129880	3	58416535	C	T	135326	Benign	Pyruvate_dehydrogenase_complex_deficiency|not_...	0.06605	0.28318	0.20467	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2826	559256	3	58416538	T	C	549911	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2827	669535	3	58417014	G	A	660124	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2828	128518	3	63982082	G	A	133967	Likely_benign	not_specified	0.39069	.	0.4377	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2829	346415	3	64079930	C	T	295948	Benign	Progressive_myoclonic_epilepsy	.	.	0.88099	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2830	346417	3	64079994	C	T	291387	Benign	Progressive_myoclonic_epilepsy	.	.	0.88139	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2831	346422	3	64080489	G	A	291393	Likely_benign	Progressive_myoclonic_epilepsy	.	.	0.10463	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2832	346436	3	64081930	T	A	292571	Likely_benign	Progressive_myoclonic_epilepsy	.	.	0.14377	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2833	346438	3	64081955	T	C	291405	Benign	Progressive_myoclonic_epilepsy	.	.	0.91194	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2834	346439	3	64082003	G	T	292572	Likely_benign	Progressive_myoclonic_epilepsy	.	.	0.09485	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2835	346451	3	64083122	A	C	295958	Benign	Progressive_myoclonic_epilepsy	.	.	0.91214	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2836	130035	3	64133182	G	A	135481	Likely_benign	Progressive_myoclonic_epilepsy|not_specified	0.06889	0.06556	0.05471	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2837	130137	3	64133350	A	G	135584	Benign	Progressive_myoclonic_epilepsy|not_specified|E...	0.98447	0.99453	0.98383	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2838	162162	3	64705365	C	T	171875	not_provided	not_provided	.	.	0.71326	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2839	683875	3	66270951	G	C	659999	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2840	683876	3	66270961	C	T	660000	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2841	683906	3	66396845	G	A	660057	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2842	672597	3	66396898	G	GAAGAGTAGA	660333	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2843	683910	3	66413111	G	T	660338	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2844	683922	3	66413130	T	A	660064	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2845	671598	3	66419883	T	C	660033	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2846	683936	3	66419956	C	T	655577	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2847	683946	3	66427885	A	G	660149	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2848	403054	3	66433676	A	G	389634	Benign	not_specified	0.60857	0.62275	0.69449	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2849	403055	3	66434643	T	C	389637	Benign	not_specified	0.23028	0.31331	0.36222	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2850	403057	3	66550756	G	C	389598	Benign	not_specified	0.81479	0.91703	0.71985	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2851	403058	3	66550762	G	C	389599	Benign	not_specified	0.8116	0.91787	0.71985	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2852	683801	3	69054341	T	C	655578	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2853	683791	3	69058783	C	T	660085	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2854	346554	3	71004721	G	GT	296049	Benign	Intellectual_Disability_with_Language_Impairme...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2855	346618	3	71007361	G	T	296140	Benign	Intellectual_Disability_with_Language_Impairme...	.	.	0.73862	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2856	96228	3	71015021	G	T	102122	Benign	not_specified	0.94126	0.94518	0.97464	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2857	346653	3	71408319	C	T	296189	Benign	Intellectual_Disability_with_Language_Impairme...	.	.	0.1224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2858	346667	3	77089395	T	C	296180	Benign	Vesicoureteral_reflux	.	.	0.48682	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2859	346732	3	77696422	C	T	296283	Benign	Vesicoureteral_reflux	.	.	0.57788	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2860	346754	3	77697943	G	A	296295	Benign	Vesicoureteral_reflux	.	.	0.68311	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2861	346763	3	77698442	G	A	296254	Benign	Vesicoureteral_reflux	.	.	0.58247	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2862	346781	3	81539382	C	T	293004	Benign	Glycogen_storage_disease,_type_IV|Polyglucosan...	.	.	0.30911	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2863	197636	3	81698130	T	C	194797	Benign	Glycogen_storage_disease,_type_IV|Polyglucosan...	0.29322	0.3746	0.32149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2864	98000	3	87295049	T	C	103892	Benign	Frontotemporal_dementia|not_specified|not_prov...	0.82031	0.90601	0.8157	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2865	346829	3	87308831	C	T	291712	Benign	Frontotemporal_dementia|Combined_Pituitary_Hor...	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2866	346833	3	87308904	T	A	291719	Benign/Likely_benign	Frontotemporal_dementia|Combined_Pituitary_Hor...	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2867	346836	3	87308905	A	T	291720	Benign/Likely_benign	Frontotemporal_dementia|Combined_Pituitary_Hor...	.	.	0.17512	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2868	346871	3	93592569	T	G	296359	Likely_benign	Protein_S_deficiency	.	.	0.76038	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2869	255811	3	93593119	T	C	251293	Benign/Likely_benign	Protein_S_deficiency|not_specified|not_provided	0.32116	0.42683	0.38518	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2870	128452	3	93768268	C	G	133901	Benign/Likely_benign	Joubert_syndrome|Joubert_syndrome_8|not_specif...	0.08696	0.10097	0.07768	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2871	346944	3	97517118	G	C	296459	Benign	Bardet-Biedl_syndrome|Retinitis_Pigmentosa,_Re...	.	.	0.95787	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2872	769275	3	97594261	G	A	698308	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2873	769276	3	97595379	G	A	698309	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2874	346955	3	98298600	C	T	293139	Benign	Hereditary_coproporphyria	.	.	0.3153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2875	346958	3	98298948	T	TTAAGAA	293174	Benign	Hereditary_coproporphyria	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2876	346967	3	98299365	T	G	296499	Benign	Hereditary_coproporphyria	.	.	0.32987	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2877	346977	3	98304467	T	C	296501	Benign	Hereditary_coproporphyria	0.74389	0.70652	0.75399	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2878	346979	3	98307696	T	G	296470	Benign	Hereditary_coproporphyria|Acute_Porphyria	0.23835	0.17413	0.24581	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2879	670587	3	100428460	G	C	655490	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2880	670746	3	100439124	TG	T	659417	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2881	667550	3	100455139	T	C	659419	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2882	670747	3	100455609	TG	T	659422	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2883	440333	3	100467018	T	C	433969	Benign	not_specified	0.65508	0.69927	0.71306	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2884	342277	3	100942033	A	T	291465	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.8129	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2885	342299	3	100944076	A	G	291657	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.13578	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2886	342302	3	100944224	T	C	287878	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.13718	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2887	342308	3	100944932	A	G	287884	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.13718	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2888	342316	3	100945245	G	T	291663	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.8129	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2889	342324	3	100945433	G	T	287897	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.83806	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2890	342337	3	100949842	G	A	291531	Benign	Retinitis_Pigmentosa,_Recessive	0.79548	0.79106	0.8129	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2891	342514	3	111260975	C	T	288051	Benign	C_syndrome	.	.	0.45887	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2892	342543	3	111356083	G	C	288080	Benign	C_syndrome	0.99539	0.99882	0.99661	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2893	342562	3	111369473	A	G	291866	Benign	C_syndrome	.	.	0.90615	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2894	342574	3	111370206	C	T	291888	Benign	C_syndrome	.	.	0.94189	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2895	774846	3	112732195	C	T	697754	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2896	342598	3	113858350	C	T	291920	Likely_benign	Hereditary_Essential_Tremor	0.95733	.	0.95787	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2897	512983	3	113876275	G	A	500408	Benign	not_specified	.	.	0.58866	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2898	16770	3	113890815	C	T	31809	Likely_benign	Essential_tremor,_susceptibility_to|Schizophre...	.	0.65683	0.51358	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2899	342620	3	119013558	G	A	288882	Benign	Adams-Oliver_syndrome	.	.	0.30371	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2900	342622	3	119013603	G	A	288132	Likely_benign	Adams-Oliver_syndrome	.	.	0.00919	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2901	342639	3	119118104	A	G	291961	Benign	Adams-Oliver_syndrome	.	0.99996	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2902	342649	3	119128398	G	A	291872	Benign	Adams-Oliver_syndrome	0.15786	0.17061	0.1877	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2903	342658	3	119133183	G	A	291972	Benign	Adams-Oliver_syndrome|not_specified	0.83161	0.80828	0.84565	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2904	342688	3	119136096	A	AC	291989	Benign	Adams-Oliver_syndrome	.	.	0.78035	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2905	342723	3	119137855	A	G	288237	Benign	Adams-Oliver_syndrome	.	.	0.76118	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2906	255481	3	120389316	T	A	250852	Benign	Alkaptonuria|not_specified	0.74342	0.73533	0.73163	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2907	780030	3	121208887	T	G	708494	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2908	342768	3	121488995	C	G	288275	Benign	Renal_dysplasia_and_retinal_aplasia	.	.	0.62121	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2909	257092	3	121489439	TA	T	250853	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2910	257090	3	121500699	C	T	250855	Benign	Renal_dysplasia_and_retinal_aplasia|Senior-Lok...	0.23704	0.28893	0.30272	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2911	198444	3	121526204	G	A	195605	Benign	Renal_dysplasia_and_retinal_aplasia|not_specif...	0.65249	0.62748	0.62001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2912	342784	3	121553852	GCTCCCA	G	292112	Benign	Renal_dysplasia_and_retinal_aplasia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2913	44141	3	121712051	A	C	53309	Benign	not_specified	0.74781	0.73945	0.78494	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2914	44145	3	121712805	G	C	53313	Benign	not_specified	0.30855	.	0.35204	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2915	35799	3	121976253	G	A	44463	Benign	Familial_hypocalciuric_hypercalcemia|not_speci...	0.91235	0.94371	0.92193	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2916	166798	3	122003045	G	C	177553	Benign	not_specified	0.97201	0.9916	0.97284	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2917	166799	3	122003832	G	C	177554	Benign	not_specified	0.91781	0.94463	0.92412	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2918	342806	3	122004098	A	T	288311	Benign	Hypocalcemia|Familial_hypocalciuric_hypercalce...	.	.	0.92013	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2919	342809	3	122004218	T	TA	292174	Benign	Hypocalcemia|Familial_hypocalciuric_hypercalce...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2920	342810	3	122004612	C	G	292175	Benign	Hypocalcemia|Familial_hypocalciuric_hypercalce...	.	.	0.96865	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2921	342815	3	122005053	A	G	288319	Benign	Hypocalcemia|Familial_hypocalciuric_hypercalce...	.	.	0.18151	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2922	342820	3	122005236	T	C	292050	Benign	Hypocalcemia|Familial_hypocalciuric_hypercalce...	.	.	0.53315	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2923	801997	3	123047666	A	G	790321	Benign	Dyskinesia,_familial,_with_facial_myokymia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2924	342823	3	123331143	T	C	292195	Benign/Likely_benign	Aortic_aneurysm,_familial_thoracic_7|Thoracic_...	.	.	0.44409	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2925	342845	3	123332186	A	AT	292071	Likely_benign	Thoracic_aortic_aneurysm_and_aortic_dissection	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2926	342849	3	123332340	G	T	289127	Likely_benign	Thoracic_aortic_aneurysm_and_aortic_dissection	.	.	0.49561	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2927	342853	3	123332546	C	G	288338	Likely_benign	Thoracic_aortic_aneurysm_and_aortic_dissection	.	.	0.35164	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2928	226771	3	123357037	A	G	228984	Benign/Likely_benign	Thoracic_aortic_aneurysm_and_aortic_dissection...	0.19791	0.21825	0.3744	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2929	226770	3	123368013	A	G	228986	Benign/Likely_benign	Thoracic_aortic_aneurysm_and_aortic_dissection...	0.22459	0.23037	0.39617	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2930	226764	3	123411589	G	A	228992	Benign/Likely_benign	Aortic_aneurysm,_familial_thoracic_7|Thoracic_...	0.56336	0.57832	0.33267	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2931	194903	3	123418913	G	A	192065	Benign/Likely_benign	Aortic_aneurysm,_familial_thoracic_7|Thoracic_...	0.94164	0.98242	0.94788	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2932	226757	3	123440967	G	A	229000	Benign/Likely_benign	Aortic_aneurysm,_familial_thoracic_7|Thoracic_...	0.9088	0.97219	0.91354	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2933	409695	3	123444833	C	T	393266	Conflicting_interpretations_of_pathogenicity	Connective_tissue_disorder|not_specified|Cardi...	0.00023	0.00039	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2934	226755	3	123451773	G	C	229002	Benign/Likely_benign	Aortic_aneurysm,_familial_thoracic_7|Thoracic_...	0.99862	0.99962	0.999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2935	226753	3	123452838	G	A	229004	Benign/Likely_benign	Aortic_aneurysm,_familial_thoracic_7|Thoracic_...	0.57435	0.65665	0.63279	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2936	198606	3	123457893	G	A	195767	Benign/Likely_benign	Aortic_aneurysm,_familial_thoracic_7|Thoracic_...	0.87244	0.9445	0.85623	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2937	342911	3	123550463	G	A	292179	Benign/Likely_benign	Aortic_aneurysm,_familial_thoracic_7|Thoracic_...	.	.	0.14597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2938	342913	3	123595432	G	A	292298	Likely_benign	Thoracic_aortic_aneurysm_and_aortic_dissection	.	.	0.66973	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2939	100124	3	124449209	A	G	106001	Benign	Orotic_aciduria|not_provided	.	0.60341	0.5591	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2940	100125	3	124449252	T	C	106002	Benign	Orotic_aciduria|not_provided	.	.	0.46146	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2941	100126	3	124449291	A	G	106003	Benign	Orotic_aciduria|not_provided	0.52876	0.59686	0.5601	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2942	100128	3	124458816	C	G	106005	not_provided	not_provided	.	.	0.64717	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2943	100130	3	124462710	G	C	106007	not_provided	not_provided	0.24904	.	0.24281	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2944	342942	3	124463657	C	T	289191	Benign	Orotic_aciduria	.	0.46956	0.53455	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2945	342953	3	124464142	C	A	288466	Benign	Orotic_aciduria	.	0.2609	0.27176	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2946	342954	3	124464215	AT	A	288468	Benign	Orotic_aciduria	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2947	342965	3	124464642	T	G	288478	Benign	Orotic_aciduria	.	0.22927	0.24481	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2948	343011	3	124466520	C	T	292236	Benign	Orotic_aciduria	.	0.22879	0.24201	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2949	343021	3	124467069	T	G	292369	Benign	Orotic_aciduria	.	0.93886	0.96246	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2950	343027	3	124467209	G	A	289269	Benign	Orotic_aciduria	.	0.22873	0.24261	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2951	343028	3	124467247	C	A	288507	Benign	Orotic_aciduria	.	0.27821	0.34505	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2952	508098	3	127323830	C	T	500279	Benign	not_specified	0.677	0.68464	0.59605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2953	508099	3	127336934	A	G	500057	Benign	not_specified	0.82262	0.75523	0.78994	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2954	539725	3	128200459	T	C	518873	Benign	not_provided	.	.	0.6901	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2955	257563	3	128205860	G	C	250906	Benign	Lymphedema,_primary,_with_myelodysplasia|not_s...	0.6934	0.69432	0.70986	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2956	343167	3	128532454	A	G	292548	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	.	.	0.05152	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2957	343189	3	128598469	CGT	C	292405	Benign	Acyl-CoA_dehydrogenase_family,_member_9,_defic...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2958	682733	3	128612113	A	C	659485	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2959	677920	3	128612659	G	C	659489	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2960	682734	3	128612830	C	A	659490	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2961	166634	3	128614133	C	T	177459	Benign	not_specified	0.58089	0.5437	0.65815	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2962	166635	3	128614185	A	C	177460	Benign	Acyl-CoA_dehydrogenase_family,_member_9,_defic...	0.45025	0.4018	0.54333	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2963	673569	3	128614563	T	TCTC	659496	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2964	677923	3	128624772	T	C	659587	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2965	677924	3	128625318	C	T	659506	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2966	166636	3	128627021	A	G	177461	Benign	Acyl-CoA_dehydrogenase_family,_member_9,_defic...	0.43411	0.37515	0.51817	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2967	677925	3	128627623	G	A	659494	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2968	343203	3	128627933	C	T	292606	Benign	Acyl-CoA_dehydrogenase_family,_member_9,_defic...	0.23443	0.25331	0.3103	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2969	262267	3	129195663	C	T	250914	Benign	not_specified	0.11226	0.08051	0.1228	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2970	194901	3	129210977	G	C	192063	Benign	Cranioectodermal_dysplasia_1|Cranioectodermal_...	0.38359	.	0.53654	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2971	256383	3	129247551	A	G	250919	Benign	not_specified|Congenital_Stationary_Night_Blin...	0.37929	0.2869	0.52836	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2972	343286	3	129252685	AT	A	292690	Benign	Congenital_Stationary_Night_Blindness,_Dominan...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2973	343302	3	129253473	A	G	288745	Benign	Congenital_Stationary_Night_Blindness,_Dominan...	.	.	0.52097	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2974	343303	3	129253486	T	C	289494	Benign	Congenital_Stationary_Night_Blindness,_Dominan...	.	.	0.10963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2975	260113	3	129695538	C	T	250924	Benign	not_specified	0.95302	0.9868	0.95767	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2976	260116	3	129695954	T	C	250926	Benign	not_specified	0.95283	0.98699	0.95807	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2977	260117	3	129696041	A	G	250927	Benign	not_specified	0.9526	0.98673	0.95807	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2978	678513	3	131217318	G	A	659606	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2979	678512	3	131219070	C	T	659515	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2980	801355	3	132360883	C	T	789736	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2981	667679	3	132424780	A	G	659519	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2982	343422	3	133465283	A	G	288854	Benign	Atransferrinemia	0.57509	0.62293	0.66613	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2983	12617	3	133494354	C	T	27656	Benign	Alzheimer_disease,_susceptibility_to|Transferr...	.	0.16016	0.15635	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2984	128712	3	134225969	T	C	134161	Benign	not_specified	0.14555	0.17276	0.17193	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2985	128706	3	134266321	A	G	134155	Benign	not_specified	0.33838	0.29862	0.27676	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2986	210701	3	134277195	A	AT	207051	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2987	683365	3	135968828	G	C	659538	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2988	93231	3	136002809	T	C	99138	Benign	not_specified|not_provided	0.16846	0.16078	0.10903	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2989	256376	3	136035737	A	G	250958	Benign	not_specified	0.3889	0.30454	0.28634	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2990	683376	3	136036226	A	G	659731	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2991	683379	3	136047977	A	G	659636	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2992	403245	3	138033181	C	T	389543	Benign	not_specified	0.66692	0.71418	0.70208	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2993	682637	3	139069523	CG	C	659739	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2994	678136	3	139069569	T	C	659742	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2995	678010	3	139070112	A	G	659550	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2996	93669	3	142168331	C	T	99572	Benign/Likely_benign	Seckel_syndrome|not_specified|not_provided	0.89782	0.86461	0.91633	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2997	136470	3	142178144	C	T	140173	Benign/Likely_benign	Seckel_syndrome|not_specified|not_provided	0.13417	0.13279	0.10224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2998	157998	3	142215171	T	C	167845	Likely_benign	not_specified	0.00262	0.05942	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
2999	157997	3	142215178	A	C	167844	Likely_benign	not_specified	0.61402	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3000	678106	3	142221956	A	G	659595	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3001	678204	3	142222074	C	T	659596	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3002	157992	3	142222284	A	G	167839	Benign/Likely_benign	Seckel_syndrome|not_specified|not_provided	0.34957	0.36398	0.3125	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3003	670441	3	142230846	A	G	659580	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3004	668021	3	142232743	A	T	659675	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3005	678105	3	142233990	T	C	659793	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3006	678104	3	142234589	C	A	659797	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3007	157979	3	142255090	T	C	167826	Benign	not_specified|not_provided	0.14396	0.13738	0.11721	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3008	668020	3	142271797	A	C	659603	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3009	670440	3	142272314	G	A	659681	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3010	670439	3	142273032	T	C	659804	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3011	678202	3	142274534	C	T	659688	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3012	157967	3	142277427	A	G	167814	Likely_benign	not_specified	0.14019	0.07452	0.11222	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3013	157966	3	142277536	A	G	167813	Benign	Seckel_syndrome|not_specified	0.34576	0.3516	0.3107	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3014	157965	3	142277575	A	T	167812	Benign/Likely_benign	Seckel_syndrome|not_specified|not_provided	0.663	0.55293	0.59804	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3015	668019	3	142279796	T	C	659605	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3016	680033	3	142280923	G	GT	659690	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3017	680032	3	142280925	G	GT	659691	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3018	93668	3	142281612	A	G	99571	Benign/Likely_benign	Seckel_syndrome|not_specified	0.66231	0.55398	0.59744	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3019	379454	3	143293012	A	G	368245	Benign	not_specified	0.29479	0.28824	0.34066	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3020	343635	3	145787657	G	A	289787	Likely_benign	Bruck_Syndrome	.	.	0.12041	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3021	343643	3	145788467	T	C	289052	Benign	Bruck_Syndrome	0.51839	0.50306	0.51118	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3022	674931	3	145788803	T	C	659584	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3023	684306	3	145794325	T	TGCTAAACTAATTTA	659585	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3024	684304	3	145795419	G	C	659592	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3025	674929	3	145795559	A	G	659594	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3026	263073	3	145796891	T	C	250976	Benign	Bruck_Syndrome|Bruck_syndrome_2|not_specified	0.25227	0.2709	0.2484	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3027	674928	3	145803138	T	C	659805	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3028	674927	3	145803142	T	A	659811	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3029	674926	3	145804524	C	A	659718	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3030	684301	3	145809329	T	C	659719	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3031	674925	3	145809750	T	C	659611	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3032	684290	3	145810011	A	C	659614	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3033	684289	3	145821806	A	G	659816	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3034	671512	3	145824025	T	C	659615	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3035	674924	3	145824478	A	G	659599	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3036	674923	3	145824504	G	A	659600	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3037	674922	3	145828256	G	GT	659610	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3038	684286	3	145828524	G	A	659818	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3039	263074	3	145838895	C	T	250977	Benign	Bruck_Syndrome|Bruck_syndrome_2|not_specified	0.78256	0.76661	0.78175	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3040	674921	3	145841854	T	C	659733	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3041	256759	3	148459395	C	T	250978	Benign	Renal_dysplasia|not_specified	0.38152	0.48371	0.45807	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3042	256758	3	148459884	A	G	250979	Benign	Renal_dysplasia|not_specified	0.12348	0.06553	0.10683	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3043	343683	3	148460339	G	T	293169	Likely_benign	Renal_dysplasia	.	.	0.05771	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3044	343686	3	148460700	G	A	289075	Benign	Renal_dysplasia	.	.	0.67073	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3045	676130	3	148726933	G	A	659747	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3046	379980	3	148727133	G	A	368262	Benign	not_specified|not_provided	0.29433	0.31249	0.30132	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3047	163668	3	148872987	G	A	173759	Benign	Hermansky-Pudlak_syndrome|not_specified	0.51392	0.45662	0.49022	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3048	343736	3	148890344	G	A	289092	Likely_benign	Hermansky-Pudlak_syndrome|Deficiency_of_ferrox...	.	.	0.02296	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3049	284863	3	148899824	G	C	269100	Conflicting_interpretations_of_pathogenicity	not_specified|not_provided	0.00454	0.00381	0.0024	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3050	198992	3	148916235	T	A	196152	Benign	not_specified	0.85587	0.91649	0.86222	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3051	343801	3	150644839	T	G	289917	Likely_benign	Retinitis_pigmentosa-deafness_syndrome|Retinit...	.	0.07225	0.15475	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3052	343804	3	150645351	G	A	289139	Benign	Retinitis_pigmentosa-deafness_syndrome|Retinit...	.	0.60375	0.77776	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3053	343805	3	150645408	G	A	289140	Benign	Retinitis_pigmentosa-deafness_syndrome|Retinit...	.	0.62928	0.77676	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3054	678799	3	150646230	A	G	659832	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3055	672425	3	150646279	A	T	659843	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3056	678775	3	150661472	A	T	659625	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3057	678774	3	150661495	T	C	659617	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3058	343818	3	150690566	T	C	289938	Likely_benign	Retinitis_pigmentosa-deafness_syndrome|Retinit...	.	0.55	0.46925	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3059	261633	3	151056598	A	C	250982	Benign	not_specified	0.87883	0.8703	0.91154	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3060	774172	3	155200461	G	A	697905	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3061	343890	3	155572129	C	T	293068	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.48942	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3062	669743	3	158362038	G	T	659759	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3063	343919	3	158362441	T	C	293119	Benign	Combined_oxidative_phosphorylation_deficiency|...	0.599	0.63018	0.58307	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3064	343925	3	158366900	G	A	289259	Benign	Combined_oxidative_phosphorylation_deficiency_...	0.59842	0.54671	0.58327	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3065	669751	3	158371406	G	A	659647	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3066	669753	3	158383882	T	C	659894	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3067	343938	3	158409262	C	T	290043	Benign	Combined_oxidative_phosphorylation_deficiency|...	0.44909	0.3657	0.40915	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3068	343940	3	158409482	C	T	293575	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.58327	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3069	343946	3	158409947	T	A	293593	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.40915	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3070	215529	3	159976432	G	GA	212292	Conflicting_interpretations_of_pathogenicity	Jeune_thoracic_dystrophy|not_specified|not_pro...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3071	344048	3	164764719	C	A	290170	Benign	Sucrase-isomaltase_deficiency	0.55943	.	0.60863	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3072	344054	3	164773057	G	A	293693	Benign	Sucrase-isomaltase_deficiency	0.56197	0.61376	0.61901	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3073	344059	3	164777677	T	G	290175	Benign	Sucrase-isomaltase_deficiency	0.56066	0.61384	0.61721	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3074	344065	3	164783165	T	C	289400	Benign	Sucrase-isomaltase_deficiency	0.5582	0.61353	0.61601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3075	344073	3	164786629	TA	T	289414	Benign	Sucrase-isomaltase_deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3076	344079	3	165490876	G	GA	289421	Benign	Deficiency_of_butyrylcholine_esterase	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3077	13220	3	165491280	C	T	28259	Likely_benign	Butyrylcholinesterase_activity|Deficiency_of_b...	.	0.18912	0.15855	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3078	590668	3	167452504	A	G	581313	Benign	not_specified	.	.	0.28594	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3079	344118	3	167506937	C	G	293751	Benign	Encephalopathy,_familial,_with_neuroserpin_inc...	0.12556	0.09793	0.11422	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3080	344120	3	167506967	A	G	290239	Benign	Encephalopathy,_familial,_with_neuroserpin_inc...	0.12548	0.09799	0.11422	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3081	344130	3	167510472	G	A	293763	Benign	Encephalopathy,_familial,_with_neuroserpin_inc...	0.12556	0.09846	0.11502	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3082	344137	3	170714435	G	A	290253	Benign	Fanconi-Bickel_syndrome	.	.	0.1859	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3083	344138	3	170714470	A	T	293768	Benign	Fanconi-Bickel_syndrome	.	.	0.20068	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3084	130348	3	170715830	G	A	135795	Benign	Fanconi-Bickel_syndrome|not_specified|not_prov...	0.39643	.	0.3726	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3085	255900	3	170723276	G	A	251003	Benign	Fanconi-Bickel_syndrome|not_specified|not_prov...	0.22197	0.15014	0.19928	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3086	130349	3	170732300	G	A	135796	Benign	Fanconi-Bickel_syndrome|not_specified|not_prov...	0.23966	0.15396	0.21526	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3087	344182	3	172161842	C	A	293372	Benign	Short_stature,_idiopathic,_autosomal	.	.	0.8143	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3088	344186	3	172162117	G	T	289521	Benign	Short_stature,_idiopathic,_autosomal	.	.	0.58866	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3089	344196	3	172162829	G	A	290310	Benign	Short_stature,_idiopathic,_autosomal	.	.	0.58886	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3090	344197	3	172162837	T	C	293388	Benign	Short_stature,_idiopathic,_autosomal	.	.	0.81909	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3091	263109	3	172166033	G	A	251010	Benign	Short_stature,_idiopathic,_autosomal|not_speci...	0.63688	0.65548	0.54014	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3092	698146	3	172166060	G	A	686364	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3093	344204	3	172631512	G	A	289538	Uncertain_significance	Spermatogenic_Failure	0.01807	0.02006	0.00938	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3094	344216	3	172766822	G	A	293864	Likely_benign	Spermatogenic_Failure	0.17484	0.15818	0.17153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3095	259957	3	178922274	C	A	251012	Benign	not_specified	0.66973	0.5614	0.58467	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3096	223907	3	178938153	A	G	225635	Likely_benign	Hereditary_cancer-predisposing_syndrome	.	.	0.00819	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3097	344243	3	180332164	G	T	293875	Uncertain_significance	Primary_ciliary_dyskinesia	.	.	0.00419	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3098	162839	3	180334623	C	T	173902	Benign/Likely_benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	0.1818	0.17643	0.13139	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3099	344267	3	180365043	T	TA	289573	Benign/Likely_benign	Primary_ciliary_dyskinesia|not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3100	162842	3	180365956	G	A	173763	Benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	0.34692	.	0.31889	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3101	684210	3	182733547	T	C	659654	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3102	684209	3	182735311	C	T	659897	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3103	684207	3	182738287	G	A	659663	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3104	684206	3	182743267	C	A	659772	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3105	95941	3	182755209	T	G	101837	Benign	3-MCC_Deficiency|3_Methylcrotonyl-CoA_carboxyl...	0.58481	0.62485	0.46486	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3106	684205	3	182757178	T	C	659773	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3107	684202	3	182759755	C	T	659668	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3108	684201	3	182763016	C	T	659679	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3109	684200	3	182763580	G	A	659778	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3110	684198	3	182775397	C	T	659903	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3111	684197	3	182789367	T	C	659783	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3112	95943	3	182790249	G	A	101839	Benign	3-MCC_Deficiency|not_specified	0.88534	0.92974	0.91554	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3113	802031	3	182810144	T	G	790368	Benign	3_Methylcrotonyl-CoA_carboxylase_1_deficiency	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3114	344318	3	182817328	C	G	289643	Benign	3-MCC_Deficiency	.	.	0.54493	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3115	94381	3	183861243	A	G	100281	Benign	Leukoencephalopathy_with_vanishing_white_matte...	0.32816	0.34983	0.38998	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3116	344343	3	183863084	AAG	A	289663	Benign	Leukoencephalopathy_with_vanishing_white_matter	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3117	518344	3	184039666	A	G	508785	Benign	Parkinson_disease_18	0.82093	0.75539	0.78235	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3118	518346	3	184045799	A	G	508787	Benign	Parkinson_disease_18	0.81224	0.75821	0.78694	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3119	217776	3	184071063	G	C	214425	Uncertain_significance	Leukoencephalopathy_with_ataxia	0.5938	.	0.46126	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3120	344369	3	184090266	C	T	289675	Benign	Thrombocythemia_1	0.67008	.	0.64058	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3121	344376	3	184094183	A	G	290439	Benign	Thrombocythemia_1	.	.	0.50679	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3122	595004	3	184910992	A	G	586066	Likely_benign	not_specified	.	0.00019	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3123	2435	3	185511687	G	T	17474	risk_factor	Diabetes_mellitus_type_2	.	.	0.38898	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3124	16045	3	186332571	G	A	31084	Benign	Leanness,_susceptibility_to	.	.	0.67732	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3125	16043	3	186337713	T	C	31082	Benign	Leanness,_susceptibility_to	.	0.68304	0.73542	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3126	16044	3	186338382	G	C	31083	Benign	Leanness,_susceptibility_to	.	0.67668	0.71366	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3127	403021	3	186461524	C	T	389540	Benign	not_specified	0.02038	.	0.02416	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3128	791576	3	187387022	T	G	708725	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3129	344379	3	189349247	A	T	294093	Benign	Ectrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos...	0.45839	.	0.48762	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3130	802034	3	189507518	C	CAGAG	790371	Likely_benign	Ectrodactyly,_ectodermal_dysplasia,_and_cleft_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3131	259132	3	189582241	T	G	251052	Benign	not_specified	0.13148	0.12542	0.05851	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3132	259133	3	189582249	G	A	251053	Benign	not_specified	0.1912	0.13255	0.21985	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3133	259124	3	189587091	A	G	251056	Benign	not_specified	0.339	0.23107	0.3123	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3134	259128	3	189604149	T	G	251059	Benign	not_specified	0.77895	.	0.69888	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3135	259127	3	189604160	T	C	251060	Benign	not_specified	0.77895	0.72317	0.69948	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3136	344431	3	189614636	C	T	293560	Benign	Ectrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos...	.	.	0.19289	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3137	369418	3	189615080	A	G	353647	Benign	Ectrodactyly|Cleft_Lip_+/-_Cleft_Palate,_Autos...	.	.	0.15156	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3138	677218	3	189712010	G	A	655531	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3139	195367	3	190030680	A	G	192528	Benign	not_specified	0.82131	.	0.8111	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3140	260004	3	190106242	T	C	251068	Benign	Primary_hypomagnesemia|not_specified	0.19368	0.19493	0.11721	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3141	344463	3	190128942	G	A	293610	Likely_benign	Primary_hypomagnesemia	.	.	0.11462	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3142	344474	3	190129588	T	A	293624	Benign	Primary_hypomagnesemia	.	.	0.79613	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3143	95727	3	193334991	G	A	101624	Benign	Dominant_hereditary_optic_atrophy|not_specifie...	0.497	0.46827	0.46805	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3144	667770	3	193335252	G	T	659798	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3145	667773	3	193336425	T	C	659917	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3146	95728	3	193336639	T	C	101625	Benign	not_specified	0.42665	0.42302	0.39237	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3147	683260	3	193337021	G	A	659658	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3148	95731	3	193355074	T	C	101628	Benign	Dominant_hereditary_optic_atrophy|not_specifie...	0.87137	0.87176	0.92292	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3149	95730	3	193355102	T	C	101627	Benign	not_specified	0.42411	0.42246	0.38978	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3150	683264	3	193362189	G	A	659826	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3151	667772	3	193363163	G	A	659710	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3152	676244	3	193363695	G	A	659829	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3153	95717	3	193374964	T	C	101614	Benign	Dominant_hereditary_optic_atrophy|not_specifie...	0.49716	0.46682	0.46645	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3154	667792	3	193377037	G	A	659833	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3155	673477	3	193377173	T	C	659660	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3156	676245	3	193409726	T	C	659665	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3157	344491	3	193412672	A	G	294191	Benign	Optic_Atrophy,_Dominant	.	.	0.64117	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3158	344494	3	193412949	T	C	289738	Benign	Optic_Atrophy,_Dominant	.	.	0.91374	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3159	344500	3	193413502	C	T	289758	Benign	Optic_Atrophy,_Dominant	.	.	0.59585	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3160	344501	3	193413732	A	G	294193	Benign	Optic_Atrophy,_Dominant	.	.	0.69629	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3161	344506	3	193414481	C	T	290543	Benign	Optic_Atrophy,_Dominant	.	.	0.4389	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3162	344512	3	193414733	A	G	289778	Benign	Optic_Atrophy,_Dominant	.	.	0.33786	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3163	344513	3	193414780	T	C	289784	Benign	Optic_Atrophy,_Dominant	.	.	0.4383	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3164	259877	3	195594805	A	G	251074	Benign	not_specified	0.12854	0.18972	0.11841	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3165	259873	3	195595054	C	T	251078	Benign	not_specified	0.1071	0.11201	0.08307	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3166	403381	3	196199204	G	T	389582	Benign	not_specified	0.51722	0.54049	0.40236	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3167	777589	3	196613101	G	A	698002	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3168	772758	4	493148	C	G	698538	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3169	476358	4	509850	T	C	453480	Benign	Mental_retardation,_autosomal_recessive_53	0.02722	0.02207	0.02057	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3170	167436	4	648643	G	A	177920	Benign	Retinitis_pigmentosa|not_specified	0.99892	0.99974	0.999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3171	167438	4	651287	C	T	177922	Benign	not_specified	0.04336	4e-05	0.01597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3172	167439	4	651290	C	CA	177923	Benign/Likely_benign	not_specified|Congenital_Stationary_Night_Blin...	0.04377	3e-05	0.01597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3173	349400	4	663908	A	G	260350	Benign	Congenital_Stationary_Night_Blindness,_Dominan...	0.57927	0.61462	0.54792	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3174	349401	4	663916	C	A	293981	Benign	Congenital_Stationary_Night_Blindness,_Dominan...	0.03737	0.02641	0.02875	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3175	92647	4	980932	G	A	98554	Benign	Mucopolysaccharidosis_type_I|not_specified|not...	.	0.4882	0.39437	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3176	92651	4	980971	T	G	98558	Benign	Mucopolysaccharidosis_type_I|not_specified|not...	.	0.91367	0.89197	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3177	710625	4	982720	G	C	721126	Likely_benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3178	680617	4	995035	TGCACCCCTATCACCCAGGCC	T	660380	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3179	680176	4	1795321	C	A	660232	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3180	379389	4	1795557	T	C	367926	Benign	not_specified	.	.	0.99641	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3181	667904	4	1804377	G	A	660305	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3182	680177	4	1805296	G	A	660600	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3183	680178	4	1806834	G	C	660237	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3184	258894	4	2826400	T	C	251436	Benign	Fibrous_dysplasia_of_jaw|not_specified	0.79717	0.75377	0.78754	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3185	258898	4	2831383	T	G	251440	Benign	Fibrous_dysplasia_of_jaw|not_specified	0.45433	.	0.46625	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3186	348676	4	2840368	A	AT	298317	Benign	Fibrous_dysplasia_of_jaw	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3187	18274	4	2906707	G	T	33313	drug_response	Hypertension,_salt-sensitive_essential,_suscep...	.	0.20187	0.20847	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3188	679323	4	3465439	C	T	660442	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3189	671280	4	3465566	G	C	660277	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3190	262864	4	3475107	G	A	251446	Benign	not_specified|not_provided	0.22228	.	0.13878	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3191	262863	4	3475122	G	A	251448	Benign	not_specified	0.13969	0.12014	0.09704	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3192	196596	4	3475252	T	C	193757	Benign	not_specified	.	0.99999	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3193	679325	4	3478323	T	C	660283	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3194	681771	4	3478391	C	A	660384	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3195	679326	4	3487099	A	G	660465	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3196	679327	4	3487151	A	G	660656	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3197	262878	4	3487237	A	G	251459	Benign	not_specified|not_provided	0.71217	0.75891	0.78175	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3198	681772	4	3487450	G	A	660286	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3199	668119	4	3487638	G	A	660289	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3200	679329	4	3491721	T	C	660291	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3201	673974	4	3491839	A	ATTCATTCCTTTCTTCACCCC	660292	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3202	681773	4	3494318	T	G	660297	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3203	681774	4	3494419	G	A	660303	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3204	262889	4	3494449	AC	A	251466	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3205	802050	4	4861745	C	G	790475	Benign	Hypoplastic_enamel-onycholysis-hypohidrosis_sy...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3206	348976	4	5564191	A	T	293698	Benign	Ellis-van_Creveld_syndrome	.	.	0.54094	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3207	667873	4	5566748	T	C	660455	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3208	195540	4	5570161	C	T	192701	Benign/Likely_benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.01954	0.0261	0.00958	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3209	667872	4	5576140	T	C	660320	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3210	670023	4	5616946	G	C	660680	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3211	262614	4	5617295	T	C	251508	Benign	not_specified	0.35814	0.34318	0.42612	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3212	670010	4	5620649	C	T	660681	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3213	262613	4	5624223	C	T	251509	Benign	not_specified	0.1058	0.05455	0.08806	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3214	262610	4	5624670	T	C	251512	Benign	Ellis-van_Creveld_syndrome|not_specified	0.44595	0.37059	0.51757	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3215	671964	4	5633205	G	A	660324	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3216	671963	4	5633236	A	G	660515	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3217	669999	4	5633995	C	T	660464	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3218	674988	4	5642141	C	T	660519	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3219	193763	4	5642274	T	C	190926	Benign	Ellis-van_Creveld_syndrome|not_specified	0.29494	0.19783	0.23003	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3220	675155	4	5642612	C	G	660525	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3221	669996	4	5642756	T	C	660526	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3222	667871	4	5664656	A	T	660466	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3223	667870	4	5665261	A	C	660696	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3224	667869	4	5665303	A	C	660340	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3225	667868	4	5666960	C	T	660534	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3226	667866	4	5667671	T	C	660342	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3227	667865	4	5682740	T	A	660345	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3228	669992	4	5686924	G	A	660717	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3229	669986	4	5686967	C	T	660719	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3230	667864	4	5690584	C	T	660494	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3231	667862	4	5691199	C	T	660720	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3232	667861	4	5691320	A	C	660512	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3233	667845	4	5693359	C	T	660513	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3234	667844	4	5695770	C	G	660349	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3235	669975	4	5699097	G	A	660560	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3236	262618	4	5710189	G	A	251523	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	.	0.1651	0.21865	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3237	439668	4	5713312	G	C	433536	Benign	not_specified	.	.	0.1869	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3238	669932	4	5721313	C	T	660568	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3239	675084	4	5730954	G	A	660350	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3240	198281	4	5743509	C	T	195442	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.9549	0.94562	0.96665	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3241	198282	4	5743512	T	C	195443	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.70694	0.79506	0.74481	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3242	667834	4	5746620	T	C	660725	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3243	262782	4	5746916	C	T	251530	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	.	0.58425	0.59006	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3244	262784	4	5747078	A	G	251533	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.70022	0.62946	0.59305	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3245	667835	4	5747292	C	T	660726	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3246	262786	4	5749904	T	C	251534	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.40566	0.41769	0.47145	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3247	262761	4	5749961	G	C	251536	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.53245	0.49199	0.58287	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3248	262762	4	5750003	A	G	251537	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.2738	0.29247	0.21745	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3249	669934	4	5750156	A	G	660520	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3250	669948	4	5754355	C	T	660571	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3251	667837	4	5754396	G	C	660361	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3252	262764	4	5754544	T	C	251539	Benign	not_specified	0.37365	0.39999	0.32149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3253	667838	4	5755292	G	A	660364	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3254	669950	4	5755373	G	C	660582	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3255	167044	4	5755542	C	A	177093	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.85261	.	0.84465	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3256	669954	4	5755837	T	A	660583	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3257	262768	4	5785442	G	A	251543	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.30801	.	0.30152	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3258	667841	4	5785697	C	G	660528	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3259	262769	4	5795412	C	T	251544	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.22185	.	0.33387	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3260	667842	4	5795616	C	A	660371	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3261	669960	4	5795697	C	T	660590	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3262	669965	4	5795710	G	A	660548	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3263	262773	4	5803633	C	T	251547	Benign	not_specified	0.25342	0.36388	0.33986	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3264	262774	4	5803669	T	C	251548	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.72174	0.72701	0.6905	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3265	262775	4	5803829	AC	A	251549	Benign/Likely_benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3266	671275	4	5806789	A	G	660615	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3267	262778	4	5812195	A	G	251551	Benign	not_specified	0.71797	0.74536	0.6907	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3268	262759	4	5812778	G	A	251552	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome...	0.61279	0.60994	0.53375	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3269	349236	4	5813695	T	C	293865	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	.	.	0.4369	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3270	349258	4	5814607	CT	C	299022	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3271	349266	4	5815032	G	A	299044	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	.	.	0.27017	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3272	349272	4	5815181	T	C	299053	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	.	.	0.72304	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3273	349276	4	5815381	G	A	299061	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	.	.	0.38758	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3274	349280	4	5815477	C	T	299063	Benign	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	.	.	0.38518	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3275	684340	4	6271416	G	T	660618	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3276	676437	4	6279504	G	A	660622	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3277	684341	4	6292643	G	C	660387	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3278	670287	4	6292716	G	C	660744	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3279	670288	4	6292755	C	CAGGGGCATG	660748	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3280	670289	4	6292758	G	GCA	660393	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3281	45459	4	6292909	C	T	54626	Benign	not_specified|WFS1-Related_Spectrum_Disorders|...	0.61633	0.65126	0.71506	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3282	4527	4	6292915	A	G	19566	Benign	Diabetes_mellitus,_noninsulin-dependent,_assoc...	0.6254	0.65546	0.72883	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3283	684342	4	6293350	T	C	660576	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3284	670290	4	6293446	T	C	660766	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3285	670298	4	6293474	A	G	660578	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3286	45460	4	6293696	C	G	54627	Benign	not_specified|WFS1-Related_Spectrum_Disorders|...	0.67806	0.7212	0.75639	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3287	670299	4	6293919	C	G	660768	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3288	670300	4	6293967	G	A	660632	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3289	684344	4	6294001	A	G	660771	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3290	684346	4	6295427	C	G	660772	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3291	684347	4	6295451	A	G	660584	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3292	684348	4	6295565	C	T	660634	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3293	684349	4	6295583	C	A	660395	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3294	4528	4	6295693	C	G	19567	Benign	Diabetes_mellitus,_noninsulin-dependent,_assoc...	.	.	0.72125	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3295	669596	4	6295750	A	G	660398	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3296	684351	4	6295985	G	A	660413	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3297	673197	4	6296447	G	T	660780	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3298	670301	4	6302199	C	T	660418	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3299	670302	4	6302220	C	G	660598	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3300	45463	4	6302519	G	A	54630	Benign	not_specified|WFS1-Related_Spectrum_Disorders	0.79932	0.7818	0.88439	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3301	45431	4	6302707	C	T	54598	Benign	not_specified|WFS1-Related_Spectrum_Disorders|...	0.55305	0.62452	0.64157	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3302	45437	4	6303022	C	T	54604	Benign	not_specified|WFS1-Related_Spectrum_Disorders|...	0.63232	0.6595	0.72943	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3303	45442	4	6303354	G	A	54609	Benign	Diabetes_mellitus_AND_insipidus_with_optic_atr...	0.4012	0.5367	0.46925	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3304	45455	4	6303955	G	A	54622	Benign	not_specified|WFS1-Related_Spectrum_Disorders|...	0.56589	.	0.65316	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3305	45456	4	6304087	A	G	54623	Benign	not_specified|WFS1-Related_Spectrum_Disorders|...	0.71175	.	0.77995	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3306	349332	4	6304242	T	C	299132	Benign	not_specified|WFS1-Related_Spectrum_Disorders|...	0.71782	0.72475	0.78375	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3307	349335	4	6304286	C	T	295328	Benign	WFS1-Related_Spectrum_Disorders|Nonsyndromic_H...	.	.	0.84804	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3308	349337	4	6304344	G	A	293945	Benign	WFS1-Related_Spectrum_Disorders|Nonsyndromic_H...	.	.	0.60663	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3309	349354	4	6304799	G	C	299157	Benign	WFS1-Related_Spectrum_Disorders|Nonsyndromic_H...	.	.	0.6262	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3310	349359	4	6304878	C	T	293961	Benign	WFS1-Related_Spectrum_Disorders|Nonsyndromic_H...	.	.	0.64756	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3311	669515	4	8869587	T	C	655616	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3312	350207	4	9909923	G	A	296326	Benign	Familial_renal_hypouricemia	0.37936	.	0.27117	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3313	350213	4	9922130	C	T	300090	Benign	Familial_renal_hypouricemia	0.14939	0.24595	0.29413	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3314	350235	4	9982330	A	G	300158	Benign	Familial_renal_hypouricemia	0.7292	.	0.7524	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3315	4594	4	9994215	C	T	19633	association	Uric_acid_concentration,_serum,_quantitative_t...	.	.	0.85763	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3316	350237	4	9998440	C	T	300168	Benign	Familial_renal_hypouricemia	0.72713	.	0.64217	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3317	350240	4	9998493	A	G	300170	Benign	Familial_renal_hypouricemia	0.78233	0.80153	0.82069	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3318	347006	4	10022981	C	T	296520	Benign	Familial_renal_hypouricemia	0.42826	0.51034	0.40735	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3319	402544	4	10502937	T	G	389584	Benign	not_specified	0.99143	0.99764	0.99002	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3320	402545	4	10586571	G	A	389605	Benign	not_specified	0.04537	0.04387	0.02596	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3321	668061	4	15480073	T	C	660189	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3322	126233	4	15482477	A	G	131765	Benign	not_specified	0.85647	0.8602	0.85024	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3323	126230	4	15538744	T	G	131762	Benign	not_specified	0.74869	0.74941	0.7482	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3324	126231	4	15539498	A	G	131763	Benign	not_specified	0.53268	0.59678	0.48602	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3325	126236	4	15568992	T	C	131768	Benign	Joubert_syndrome|Meckel-Gruber_syndrome|not_sp...	0.70159	0.71218	0.66254	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3326	126239	4	15569146	A	C	131771	Benign	not_specified	0.70314	.	0.66234	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3327	126243	4	15587897	A	T	131775	Benign	not_specified	0.9578	0.98751	0.94888	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3328	257382	4	15603069	G	C	251363	Benign/Likely_benign	Joubert_syndrome|Meckel-Gruber_syndrome|not_sp...	0.58095	0.60532	0.56689	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3329	95334	4	15982166	A	G	101233	Benign	not_specified|Stargardt_Disease,_Dominant|Cone...	.	0.36079	0.44689	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3330	677210	4	15986042	G	A	660365	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3331	677208	4	16002050	T	C	660207	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3332	259907	4	16020162	C	T	251366	Benign/Likely_benign	not_specified|Stargardt_Disease,_Dominant|Cone...	0.08381	0.17357	0.13818	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3333	677178	4	16024885	A	G	660370	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3334	348137	4	17488064	T	C	297721	Benign	BH4-Deficient_Hyperphenylalaninemia	.	.	0.626	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3335	348138	4	17488072	T	C	294253	Benign	BH4-Deficient_Hyperphenylalaninemia	.	.	0.65955	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3336	348141	4	17488244	G	A	297793	Benign	BH4-Deficient_Hyperphenylalaninemia	.	.	0.65855	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3337	348142	4	17488286	T	G	292890	Benign	BH4-Deficient_Hyperphenylalaninemia	.	.	0.65915	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3338	348150	4	17488533	CA	TG	292897	Uncertain_significance	BH4-Deficient_Hyperphenylalaninemia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3339	348163	4	17513724	G	C	297814	Benign	BH4-Deficient_Hyperphenylalaninemia	0.3652	0.50567	0.3756	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3340	348165	4	17513757	CG	C	292915	Likely_benign	BH4-Deficient_Hyperphenylalaninemia	.	.	0.18191	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3341	784037	4	20760520	A	G	779201	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3342	348522	4	25122859	T	C	293254	Likely_benign	Pontoneocerebellar_hypoplasia	.	.	0.11582	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3343	130288	4	25125703	C	G	135735	Benign/Likely_benign	Pontoneocerebellar_hypoplasia|not_specified	0.0769	0.06679	0.11222	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3344	403456	4	25678199	A	G	389591	Benign	not_specified	0.87598	0.86426	0.91074	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3345	444124	4	26336243	C	T	437747	Benign	Diabetes_mellitus_type_2	.	.	0.47844	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3346	444136	4	26352363	T	G	437748	Benign	Diabetes_mellitus_type_2	.	.	0.72923	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3347	444128	4	26385335	G	A	437751	Benign	Diabetes_mellitus_type_2	.	.	0.55431	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3348	444125	4	26414770	G	C	437755	Benign	Diabetes_mellitus_type_2	.	.	0.46526	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3349	444126	4	26446006	G	A	437757	Benign	Diabetes_mellitus_type_2	.	.	0.59525	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3350	444135	4	26451697	G	A	437758	Benign	Diabetes_mellitus_type_2	.	.	0.53614	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3351	8360	4	38798648	C	A	23399	protective	Leprosy,_protection_against	.	0.53892	0.80052	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3352	8361	4	38799710	T	C	23400	risk_factor	Leprosy_5	0.42795	0.39214	0.57468	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3353	287684	4	39236493	C	T	271921	Conflicting_interpretations_of_pathogenicity	Jeune_thoracic_dystrophy|Cranioectodermal_dysp...	0.00169	0.0021	0.0006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3354	261862	4	39259190	A	G	251483	Benign	not_specified	0.32515	0.37105	0.28115	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3355	811530	4	39276623	A	AG	799356	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3356	348762	4	39287322	C	T	298475	Benign	Jeune_thoracic_dystrophy|Cranioectodermal_dysp...	.	.	0.48862	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3357	669810	4	39472556	C	CCAAA	660484	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3358	670681	4	39472796	T	A	660399	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3359	138117	4	39472842	T	A	141820	Benign	not_specified	0.29202	0.36545	0.33686	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3360	683095	4	39473114	C	T	660307	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3361	683097	4	39473167	G	C	660308	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3362	683116	4	39473170	G	A	660404	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3363	674123	4	39473180	T	C	660406	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3364	674124	4	39473186	G	A	660309	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3365	674137	4	39473195	G	A	660414	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3366	670682	4	39474868	G	A	660431	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3367	12298	4	41259633	C	A	27337	Benign	Parkinson_disease_5|Parkinson_Disease,_Dominant	.	0.35021	0.25399	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3368	348787	4	41746460	C	T	298516	Benign	Neuroblastoma|Congenital_central_hypoventilation	.	.	0.42432	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3369	348788	4	41746477	T	C	294839	Benign	Neuroblastoma|Congenital_central_hypoventilation	.	.	0.05232	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3370	43888	4	42965159	A	C	53057	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.82518	.	0.85503	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3371	348826	4	43032612	G	A	298554	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	0.53614	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3372	775217	4	46388119	G	A	698523	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3373	348845	4	47954624	C	T	298617	Uncertain_significance	Retinitis_Pigmentosa,_Recessive	0.01394	0.01217	0.00519	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3374	517097	4	48012817	G	A	500531	Benign	not_specified	.	.	0.11222	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3375	178775	4	54310281	T	G	173814	Benign	not_specified	0.57137	0.59212	0.46665	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3376	259949	4	55141055	A	G	251495	Benign	Gastrointestinal_stroma_tumor|Idiopathic_hyper...	0.95887	0.98804	0.95767	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3377	259952	4	55161254	C	T	251498	Benign	not_specified	0.73581	0.80209	0.69908	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3378	259953	4	55161391	T	C	251499	Benign	Gastrointestinal_stroma_tumor|Idiopathic_hyper...	0.99677	0.99899	0.9972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3379	348913	4	55161517	A	G	298643	Benign	Gastrointestinal_stroma_tumor|Idiopathic_hyper...	.	.	0.99701	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3380	348921	4	55162271	T	C	298654	Likely_benign	Gastrointestinal_stroma_tumor|Idiopathic_hyper...	.	.	0.03075	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3381	348925	4	55162534	GTTT	G,GT	298660	Uncertain_significance	Gastrointestinal_stroma_tumor|Idiopathic_hyper...	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3382	348930	4	55162950	C	A	294981	Benign	Gastrointestinal_stroma_tumor|Idiopathic_hyper...	.	.	0.9972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3383	348943	4	55163826	T	G	293573	Benign	Gastrointestinal_stroma_tumor|Idiopathic_hyper...	.	.	0.98762	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3384	518355	4	55948108	A	G	508794	Benign	Hemangioma,_capillary_infantile	0.99762	0.99856	0.99681	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3385	134603	4	55972974	T	A	138342	not_provided	not_specified	0.19391	0.21983	0.21186	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3386	134616	4	55979558	C	T	138355	not_provided	not_specified	0.1427	0.10893	0.15256	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3387	349002	4	56212404	C	G	295041	Uncertain_significance	Congenital_disorder_of_glycosylation	.	.	0.00899	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3388	676204	4	56235860	T	C	660677	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3389	676206	4	56235931	C	G	660451	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3390	349009	4	56236328	C	T	293625	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.26757	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3391	349019	4	56236804	G	A	293640	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.26757	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3392	349022	4	56237137	C	T	298694	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.26737	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3393	349024	4	56237327	G	A	298695	Benign	Congenital_disorder_of_glycosylation	.	.	0.6887	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3394	349033	4	56238263	T	C	298714	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.26917	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3395	349043	4	56238626	G	A	295072	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.26757	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3396	349047	4	56238847	G	A	293667	Benign	Congenital_disorder_of_glycosylation	.	.	0.75	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3397	193395	4	56262374	A	G	190559	Benign	Congenital_disorder_of_glycosylation|not_speci...	.	0.77214	0.75519	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3398	349072	4	56292101	A	T	298767	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.20967	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3399	128696	4	56874517	A	C	134145	Benign	not_specified	0.21078	0.20946	0.13918	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3400	349460	4	68620277	T	C	299265	Benign	Isolated_GnRH_Deficiency	.	.	0.98103	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3401	349468	4	68620957	T	C	299275	Likely_benign	Isolated_GnRH_Deficiency	.	.	0.46625	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3402	349475	4	68621197	A	G	295504	Likely_benign	Isolated_GnRH_Deficiency	.	.	0.44169	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3403	349477	4	68621308	A	G	299286	Likely_benign	Isolated_GnRH_Deficiency	.	.	0.46685	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3404	349478	4	68621332	C	T	295507	Likely_benign	Isolated_GnRH_Deficiency	.	.	0.46586	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3405	349482	4	68621550	G	A	299291	Likely_benign	Isolated_GnRH_Deficiency	.	.	0.46605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3406	349483	4	68621585	CA	C	299297	Likely_benign	Isolated_GnRH_Deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3407	225966	4	69536084	A	C	227750	drug_response	oxazepam_response_-_Other|lorazepam_response_-...	0.50246	0.50239	0.54653	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3408	349489	4	71494619	G	A	299321	Benign	Amelogenesis_Imperfecta,_Dominant	.	.	0.23842	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3409	349499	4	71508869	T	C	295533	Likely_benign	Amelogenesis_Imperfecta,_Dominant	0.04283	0.01385	0.03934	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3410	349513	4	71510836	C	G	295535	Benign	Amelogenesis_Imperfecta,_Dominant	.	.	0.22624	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3411	349520	4	71511259	G	C	299348	Benign	Amelogenesis_Imperfecta,_Dominant	.	.	0.24161	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3412	349540	4	72313411	C	T	299360	Likely_benign	Renal_tubular_acidosis,_proximal,_with_ocular_...	0.01938	0.04201	0.03514	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3413	349565	4	72433879	G	C	295591	Benign	Renal_tubular_acidosis,_proximal,_with_ocular_...	.	.	0.88818	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3414	349571	4	72434406	G	C	299410	Benign	Renal_tubular_acidosis,_proximal,_with_ocular_...	.	.	0.28794	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3415	349598	4	72436235	A	G	299412	Benign	Renal_tubular_acidosis,_proximal,_with_ocular_...	.	.	0.62061	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3416	15986	4	72618323	G	T	31025	Benign	GC1/GC2_POLYMORPHISM	.	.	0.20787	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3417	15987	4	72618334	A	C	31026	Benign	GC1/GC2_POLYMORPHISM	.	0.5159	0.38159	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3418	748886	4	73185600	C	T	749057	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3419	430719	4	73942678	C	T	424258	association	Lip_and_oral_cavity_carcinoma	0.12194	0.17092	0.17652	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3420	349639	4	74285239	C	T	299444	Likely_benign	Hyperthyroxinemia,_dysalbuminemic	0.5183	0.53538	0.48343	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3421	669877	4	77097336	C	T	660783	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3422	670734	4	77134870	G	A	655614	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3423	772868	4	77676309	A	C	698634	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3424	261821	4	78987157	A	G	251564	Benign	Fraser_syndrome_1|not_specified	0.48742	0.45626	0.55152	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3425	518357	4	78989716	T	C	508796	Benign	Fraser_syndrome_1	.	0.27001	0.28774	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3426	261808	4	79186171	G	A	251566	Benign	Fraser_syndrome_1|not_specified	0.93556	0.97409	0.92213	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3427	194790	4	79238649	T	C	191953	Benign	Fraser_syndrome_1|not_specified	0.79778	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3428	261804	4	79240063	A	G	251568	Benign	Fraser_syndrome_1|not_specified	0.4114	.	0.43431	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3429	261813	4	79387464	A	G	251576	Benign	Fraser_syndrome_1|not_specified	0.96951	0.99012	0.96765	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3430	349752	4	79387586	A	G	299519	Benign	Fraser_syndrome_1	0.20827	0.31196	0.3137	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3431	261814	4	79391256	T	C	251577	Benign	Fraser_syndrome_1|not_specified	0.95529	0.98669	0.95607	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3432	261817	4	79420864	T	C	251580	Benign	Fraser_syndrome_1|not_specified	0.51038	0.50863	0.59385	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3433	261818	4	79420870	C	G	251582	Benign	Fraser_syndrome_1|not_specified	0.48065	.	0.59165	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3434	349790	4	79432455	A	C	295831	Benign	Fraser_syndrome_1	0.29624	0.3268	0.40455	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3435	349802	4	79440589	C	T	299604	Likely_benign	Fraser_syndrome_1	0.01899	0.02057	0.01478	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3436	349805	4	79442799	GT	G	294360	Benign	Fraser_syndrome_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3437	261798	4	79443850	G	A	251588	Benign	Fraser_syndrome_1|not_specified	0.53689	0.54709	0.51098	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3438	261801	4	79455714	C	G	251590	Benign	Fraser_syndrome_1|not_specified	0.40499	0.48842	0.51498	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3439	261802	4	79455733	C	T	251591	Benign	Fraser_syndrome_1|not_specified	0.40517	0.48842	0.51498	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3440	547870	4	79461956	T	C	538370	Uncertain_significance	Fraser_syndrome_1	0.01386	0.01323	0.00779	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3441	349829	4	79462560	A	T	299624	Benign	Fraser_syndrome_1	.	.	0.20228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3442	349856	4	79464432	C	T	299659	Benign	Fraser_syndrome_1	.	.	0.66174	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3443	349861	4	79464767	T	C	295929	Benign	Fraser_syndrome_1	.	.	0.66174	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3444	349864	4	79464978	G	A	299682	Benign	Fraser_syndrome_1	.	.	0.64038	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3445	349866	4	79465100	A	ATTTT	299685	Benign	Fraser_syndrome_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3446	349874	4	80905990	C	G	295946	Benign	Hyaline_fibromatosis_syndrome	0.71018	.	0.80272	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3447	349882	4	80977078	T	G	294465	Benign	Hyaline_fibromatosis_syndrome	0.58745	.	0.69728	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3448	349890	4	80993796	G	T	294483	Benign	Hyaline_fibromatosis_syndrome	.	.	0.3772	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3449	349897	4	80994124	C	T	294488	Likely_benign	Hyaline_fibromatosis_syndrome	.	.	0.14257	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3450	128830	4	84188850	G	A	134279	Benign/Likely_benign	Coenzyme_Q10_deficiency,_primary_1|not_specifi...	0.22084	0.27879	0.21026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3451	683554	4	84190749	A	G	660668	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3452	128829	4	84191031	A	G	134278	Benign	Coenzyme_Q10_deficiency,_primary_1|not_specifi...	0.73685	0.73803	0.77816	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3453	226000	4	84192168	G	C	227830	drug_response	atorvastatin_response_-_Toxicity/ADR|hmg_coa_r...	.	.	0.66014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3454	683553	4	84193572	A	G	660443	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3455	683548	4	84194328	T	TATAC	660446	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3456	128828	4	84205872	C	A	134277	Benign	Coenzyme_Q10_deficiency,_primary_1|not_specifi...	0.68519	0.72489	0.64976	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3457	136978	4	84206004	T	A	140681	Benign/Likely_benign	Coenzyme_Q10_deficiency,_primary_1|not_specifi...	0.0168	.	0.00998	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3458	349919	4	86936468	A	G	296014	Benign	Epileptic_encephalopathy	.	.	0.19429	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3459	349928	4	86937096	A	C	299748	Benign	Epileptic_encephalopathy	.	.	0.45288	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3460	349933	4	86937588	G	C	296030	Benign	Epileptic_encephalopathy	.	.	0.45268	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3461	349939	4	86937874	C	T	296037	Benign	Epileptic_encephalopathy	.	.	0.21546	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3462	349954	4	87024409	T	C	299820	Benign	Epileptic_encephalopathy	0.53875	0.65806	0.59345	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3463	260356	4	88533441	T	C	251593	Benign	not_specified	0.43143	0.51617	0.47145	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3464	260355	4	88533445	T	C	251594	Benign	not_specified	0.22878	0.25855	0.21865	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3465	740806	4	88533815	T	C	749100	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3466	260359	4	88534235	A	G	251597	Benign	not_specified	0.64773	0.62817	0.67432	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3467	260353	4	88537737	G	A	251599	Benign	not_specified	0.88476	0.79428	0.85543	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3468	598009	4	88767008	G	A	589070	Benign	not_specified	0.13486	0.18108	0.17232	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3469	92795	4	88929305	G	A	98702	Benign/Likely_benign	Polycystic_kidney_disease,_autosomal_dominant|...	.	0.06252	0.11442	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3470	440143	4	88959381	G	A	432996	Benign	Polycystic_kidney_disease_2	0.65939	0.60393	0.69629	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3471	219985	4	88989089	A	C	221479	Benign/Likely_benign	Polycystic_kidney_disease_2|not_specified|not_...	0.00438	0.00481	0.00579	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3472	350035	4	88997073	G	GA	299900	Likely_benign	Polycystic_kidney_disease,_autosomal_dominant	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3473	350037	4	88997102	C	T	296123	Likely_benign	Polycystic_kidney_disease,_autosomal_dominant	.	.	0.19309	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3474	350045	4	88997876	G	A	296126	Likely_benign	Polycystic_kidney_disease,_autosomal_dominant	.	.	0.09864	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3475	30389	4	89052323	G	T	39346	drug_response	allopurinol_response_-_Dosage,_Efficacy|Ovaria...	0.0845	0.11802	0.11941	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3476	30386	4	89061114	C	T	39343	Affects,_association	Uric_acid_concentration,_serum,_quantitative_t...	0.04552	0.10758	0.15755	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3477	350093	4	90646886	G	A	299919	Benign	Parkinson_Disease,_Dominant	.	.	0.48423	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3478	350131	4	96075965	C	T	296235	Benign	Brachydactyly|not_provided	.	.	0.40415	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3479	350133	4	96076020	A	G	299987	Benign	Brachydactyly	.	.	0.59285	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3480	350135	4	96076113	C	CT	300008	Uncertain_significance	Brachydactyly	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3481	350147	4	96076813	A	G	300021	Benign	Brachydactyly	.	.	0.57927	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3482	350152	4	96077383	A	G	300020	Benign	Brachydactyly	.	.	0.59345	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3483	350167	4	96078174	C	T	300040	Benign	Brachydactyly	.	.	0.38359	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3484	350171	4	96078600	A	G	300043	Benign	Brachydactyly	.	.	0.38439	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3485	350174	4	96079045	T	C	300046	Benign	Brachydactyly	.	.	0.38478	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3486	350175	4	96079079	C	G	296278	Benign	Brachydactyly	.	.	0.12061	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3487	18180	4	100260789	T	C	33219	protective	Alcohol_dependence	.	0.34439	0.21426	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3488	18179	4	100263965	C	T	33218	protective	Alcohol_dependence	.	0.34247	0.21426	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3489	402344	4	100268190	A	C	389612	Benign	not_specified	.	0.98484	0.99281	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3490	347008	4	100485244	G	C	294755	Benign	Abetalipoproteinaemia	.	0.21537	0.1907	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3491	347009	4	100485255	G	A	300160	Benign	Abetalipoproteinaemia	.	0.33191	0.25	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3492	14242	4	100504664	T	C	29281	Benign	Abetalipoproteinaemia|Metabolic_syndrome,_prot...	.	0.25044	0.2498	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3493	347052	4	100544284	C	G	294800	Uncertain_significance	Abetalipoproteinaemia	.	.	0.01038	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3494	347062	4	100545051	C	G	296412	Benign	Abetalipoproteinaemia	.	.	0.6877	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3495	1269	4	102751076	G	A	16308	Uncertain_significance	Systemic_lupus_erythmatosus,_association_with	.	.	0.21845	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3496	347065	4	103552709	C	T	296563	Benign	Beta-D-mannosidosis	.	.	0.55032	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3497	347067	4	103552813	C	T	291851	Benign	Beta-D-mannosidosis	.	.	0.55032	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3498	347068	4	103552830	G	A	293217	Benign	Beta-D-mannosidosis	.	.	0.55032	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3499	347074	4	103553053	G	A	296580	Benign	Beta-D-mannosidosis	.	.	0.55032	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3500	347075	4	103553090	A	G	293223	Benign	Beta-D-mannosidosis	.	.	0.55032	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3501	347077	4	103553372	C	T	296534	Benign/Likely_benign	Beta-D-mannosidosis|not_provided	0.01292	0.01313	0.00639	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3502	403070	4	103553447	GA	G	389604	Benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3503	667482	4	103553543	C	T	660176	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3504	667481	4	103553665	G	A	660177	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3505	667480	4	103555619	C	G	660388	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3506	667478	4	103555676	T	C	660062	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3507	667477	4	103555803	G	C	660390	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3508	667476	4	103555821	G	A	660067	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3509	95320	4	103555992	A	G	101219	Benign	Beta-D-mannosidosis|not_specified|not_provided	0.54844	0.53296	0.54972	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3510	667475	4	103556316	T	C	660181	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3511	667474	4	103556367	G	GT	660183	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3512	667473	4	103556462	G	C	660152	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3513	667472	4	103556861	T	C	660392	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3514	95319	4	103557077	G	A	101218	Benign	Beta-D-mannosidosis|not_specified|not_provided	0.54844	.	0.54912	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3515	95318	4	103557192	C	T	101217	Benign	not_specified|not_provided	0.54875	0.53368	0.54912	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3516	667470	4	103557219	C	T	660160	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3517	667469	4	103557251	G	A	660185	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3518	667468	4	103557311	G	C	660187	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3519	347104	4	104510766	G	A	296542	Likely_benign	Isolated_GnRH_Deficiency	.	.	0.55032	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3520	802081	4	107168431	G	C	790428	Benign	Hypotonia,_infantile,_with_psychomotor_retarda...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3521	670712	4	108853592	A	G	660075	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3522	377766	4	108868515	T	C	367432	Benign	not_specified	0.62886	.	0.65096	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3523	167162	4	108931039	T	C	177759	Benign	not_specified	0.84945	0.91505	0.86901	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3524	767969	4	110384047	G	GCTTTT	777405	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3525	162164	4	110590479	G	T	171877	not_provided	not_provided	.	.	0.78455	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3526	369434	4	110661835	T	C	353663	Benign	Atypical_hemolytic_uremic_syndrome	.	0.0107	0.03275	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3527	347143	4	110661937	G	A	293307	Benign	Atypical_hemolytic_uremic_syndrome	.	0.98817	0.95367	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3528	347167	4	110681505	C	T	293323	Benign	Atypical_hemolytic_uremic_syndrome	0.29417	0.28372	0.3121	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3529	347170	4	110685679	A	T	296651	Likely_benign	Atypical_hemolytic_uremic_syndrome	0.01469	0.00481	0.01118	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3530	347195	4	110791361	G	A	296675	Benign	Congenital_Stationary_Night_Blindness,_Recessive	0.17361	.	0.2486	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3531	347196	4	110791413	C	T	291932	Benign	Congenital_Stationary_Night_Blindness,_Recessive	0.17354	0.19511	0.25899	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3532	347197	4	110791453	T	C	296667	Benign	Congenital_Stationary_Night_Blindness,_Recessive	0.12763	0.03799	0.11741	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3533	347198	4	110791543	C	T	293357	Benign	Congenital_Stationary_Night_Blindness,_Recessive	0.17361	0.19504	0.2488	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3534	347203	4	110792443	G	C	296699	Likely_benign	Congenital_Stationary_Night_Blindness,_Recessive	.	.	0.03415	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3535	347206	4	110792629	A	G	291943	Benign	Congenital_Stationary_Night_Blindness,_Recessive	.	.	0.77776	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3536	347213	4	110793139	T	A	296678	Likely_benign	Congenital_Stationary_Night_Blindness,_Recessive	.	.	0.04633	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3537	225998	4	110834110	A	G	227748	drug_response	cetuximab_response_-_Efficacy|Renal_Hypomagnes...	.	.	0.60523	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3538	347234	4	110883121	G	A	296701	Benign	Renal_Hypomagnesemia,_Recessive	0.12379	0.09846	0.16534	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3539	780933	4	110895923	A	G	709124	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3540	347242	4	110901147	A	G	293436	Benign	Renal_Hypomagnesemia,_Recessive	0.03145	0.04767	0.10603	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3541	347245	4	110901198	G	A	293437	Benign	Renal_Hypomagnesemia,_Recessive	0.52514	0.46584	0.61781	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3542	347248	4	110908933	T	C	296755	Likely_benign	Renal_Hypomagnesemia,_Recessive	0.03675	0.01163	0.03315	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3543	347252	4	110914427	A	T	292005	Benign	Renal_Hypomagnesemia,_Recessive	0.84892	0.84067	0.92053	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3544	347273	4	110933094	C	T	293454	Likely_benign	Renal_Hypomagnesemia,_Recessive	.	.	0.03035	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3545	347278	4	110933523	GTT	G	292021	Uncertain_significance	Renal_Hypomagnesemia,_Recessive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3546	347283	4	110933855	T	C	293461	Benign	Renal_Hypomagnesemia,_Recessive	.	.	0.42552	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3547	672177	4	113825869	T	C	660162	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3548	683232	4	114153062	A	T	660082	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3549	683235	4	114159052	A	C	660213	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3550	671890	4	114171154	A	G	660168	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3551	678445	4	114199312	C	T	660097	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3552	671891	4	114209350	C	T	660432	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3553	671007	4	114267023	G	A	660452	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3554	347373	4	119201531	GTT	G	296847	Benign	Intellectual_Disability,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3555	130041	4	119237348	T	C	135487	Benign	not_specified|Intellectual_Disability,_Recessive	0.52391	0.55467	0.54533	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3556	130042	4	119273712	C	G	135488	Benign	not_specified|Intellectual_Disability,_Recessive	0.55012	0.65434	0.49221	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3557	771145	4	119736626	G	C	698349	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3558	672825	4	120071926	T	C	660267	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3559	671139	4	120072233	G	C	660141	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3560	671140	4	120072238	A	G	660151	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3561	671141	4	120072275	G	C	660483	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3562	31787	4	120079159	A	G	40447	Benign	Familial_hypertrophic_cardiomyopathy_16|not_sp...	0.58934	0.64943	0.54633	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3563	671142	4	120079387	G	A	660157	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3564	674345	4	120106982	T	C	660269	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3565	45786	4	120107098	G	GT	54951	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3566	347422	4	120108603	G	A	296893	Likely_benign	Hypertrophic_cardiomyopathy	.	.	0.28734	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3567	16494	4	120241902	T	C	31533	Benign	FATTY_ACID-BINDING_PROTEIN,_INTESTINAL,_POLYMO...	.	0.72606	0.74661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3568	683711	4	121676080	A	C	660211	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3569	683710	4	121702011	G	C	660504	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3570	347437	4	121706201	A	G	293600	Benign	Brittle_cornea_syndrome_1|not_specified	0.19983	0.21155	0.13738	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3571	683709	4	121719113	C	T	660284	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3572	347440	4	121719584	T	TA	292165	Benign	Brittle_cornea_syndrome_1|not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3573	683708	4	121732251	C	G	660287	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3574	683727	4	121737288	G	A	660212	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3575	347444	4	121738049	T	C	296920	Benign	Brittle_cornea_syndrome_1|not_specified	0.28125	0.29117	0.27496	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3576	347445	4	121738070	C	T	296926	Benign/Likely_benign	Brittle_cornea_syndrome_1|not_specified	0.02407	0.02449	0.01018	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3577	347471	4	122746285	TC	T	296948	Benign	Bardet-Biedl_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3578	347476	4	122746596	A	T	296957	Benign	Bardet-Biedl_syndrome	.	.	0.27676	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3579	262922	4	122749436	G	T	251316	Benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.77539	.	0.8121	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3580	347491	4	122791601	G	C	292191	Benign	Bardet-Biedl_syndrome	.	.	0.30132	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3581	402975	4	123536963	G	A	389654	Benign	not_specified	0.76534	0.74336	0.84046	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3582	347494	4	123653926	G	A	292197	Likely_benign	Bardet-Biedl_syndrome	.	.	0.13918	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3583	166725	4	123664204	G	A	176959	Benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.41381	0.41403	0.50639	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3584	262669	4	123664247	G	A	251326	Benign	Bardet-Biedl_syndrome|not_specified|not_provided	0.10611	0.03759	0.09265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3585	166726	4	123664427	G	C	177507	Benign/Likely_benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.17492	0.17276	0.09465	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3586	166727	4	123664446	G	A	177222	Benign/Likely_benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.17261	0.16956	0.09265	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3587	166728	4	123664457	C	T	177508	Benign/Likely_benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.20814	0.18683	0.12101	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3588	166730	4	123664919	A	G	177510	Benign/Likely_benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.17138	0.16933	0.09185	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3589	347508	4	123665366	T	TA	293633	Likely_benign	Bardet-Biedl_syndrome	.	.	0.13199	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3590	347513	4	123665991	C	G	293643	Benign	Bardet-Biedl_syndrome	.	.	0.54413	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3591	586674	4	123868279	G	T	576773	Benign	not_provided	.	.	0.74341	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3592	203522	4	123949556	G	A	199933	Benign	not_provided	0.8952	0.91669	0.87859	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3593	380793	4	126240510	T	C	367834	Benign	not_specified	0.76595	0.70116	0.72105	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3594	380818	4	126241253	G	C	367553	Benign	not_specified	0.11241	0.09213	0.0643	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3595	380882	4	126241335	C	G	367878	Benign	not_specified	0.03835	0.08517	0.10863	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3596	377855	4	126241871	C	T	367841	Benign	not_specified	0.75436	0.69741	0.71126	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3597	668137	4	126328562	T	C	660218	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3598	380250	4	126329789	T	C	367846	Benign	not_specified	0.99054	0.99659	0.98842	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3599	380794	4	126336703	T	C	368957	Benign	not_specified	0.13302	0.17761	0.20467	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3600	668138	4	126355844	T	A	660219	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3601	668139	4	126367986	C	T	660170	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3602	380795	4	126369872	G	C	367556	Benign	not_specified	0.99239	.	0.99082	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3603	380813	4	126372742	G	A	367890	Benign	Van_Maldergem_syndrome_2|not_specified	0.22067	0.26733	0.23063	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3604	380797	4	126373789	G	A	367898	Benign	Van_Maldergem_syndrome_2|not_specified	0.99247	0.99777	0.99101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3605	680145	4	126384595	C	T	660543	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3606	680146	4	126384905	A	C	660295	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3607	680147	4	126390181	C	T	660221	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3608	668140	4	126397056	C	T	660298	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3609	380799	4	126397321	C	T	368992	Benign	not_specified	0.39597	0.3745	0.33786	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3610	668141	4	126401326	T	C	660306	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3611	680154	4	126402921	T	G	660175	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3612	680157	4	126408980	A	T	660227	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3613	681691	4	126408988	G	C	660312	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3614	380802	4	126412575	A	G	367599	Benign	not_specified	0.7442	0.75686	0.74062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3615	347552	4	140375145	G	C	292257	Benign	Smith-McCort_dysplasia	.	.	0.17093	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3616	347558	4	140375296	C	G	292267	Benign	Smith-McCort_dysplasia	.	.	0.17133	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3617	347575	4	140394875	G	A	292269	Likely_benign	Smith-McCort_dysplasia	.	.	0.10383	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3618	347582	4	140395583	C	T	292290	Benign	Smith-McCort_dysplasia	.	.	0.15895	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3619	347584	4	140395683	C	A	292299	Likely_benign	Smith-McCort_dysplasia	.	.	0.01138	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3620	347593	4	140396931	C	A	293742	Benign	Smith-McCort_dysplasia	.	.	0.22704	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3621	667501	4	146567584	T	G	660188	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3622	667502	4	146574977	T	C	660553	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3623	347647	4	146579194	T	C	292365	Benign	Methylmalonic_acidemia	.	.	0.56569	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3624	347652	4	146579354	A	T	297183	Benign	Methylmalonic_acidemia	.	.	0.56569	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3625	347655	4	146579452	A	G	297184	Benign	Methylmalonic_acidemia	.	.	0.27416	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3626	347673	4	149000024	C	T	297192	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.71625	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3627	347695	4	149001085	T	C	292417	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.55351	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3628	256828	4	149356516	A	G	251336	Benign	Pseudohypoaldosteronism_type_1_autosomal_domin...	0.89812	.	0.89197	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3629	256832	4	149357475	C	T	251337	Benign	Pseudohypoaldosteronism_type_1_autosomal_domin...	0.89759	0.88116	0.89197	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3630	256827	4	149358014	G	C	251338	Benign	Pseudohypoaldosteronism_type_1_autosomal_domin...	0.39743	0.55105	0.5008	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3631	403047	4	151199080	G	A	389609	Benign	not_specified	0.19499	0.20277	0.14217	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3632	403048	4	151207127	C	T	389652	Benign	not_specified	0.22321	0.27726	0.16214	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3633	473187	4	151242333	C	G	452979	Benign	not_provided	0.02545	0.0077	0.02316	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3634	439869	4	151242409	T	G	433673	Conflicting_interpretations_of_pathogenicity	Common_variable_immunodeficiency_8,_with_autoi...	0.00677	0.00463	0.002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3635	403050	4	151719263	A	G	389662	Benign	not_specified	0.17508	0.18415	0.12081	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3636	473178	4	151753133	GA	G	453283	Benign	Common_variable_immunodeficiency_8,_with_autoi...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3637	196133	4	151765243	G	A	193294	Benign	not_specified	0.83577	0.85691	0.753	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3638	347782	4	155492224	A	C	293907	Benign	Afibrinogenemia,_congenital	.	.	0.21366	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3639	347787	4	155492421	T	C	292488	Benign	Afibrinogenemia,_congenital	.	.	0.92352	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3640	347799	4	155493352	C	T	292505	Benign	Afibrinogenemia,_congenital	.	.	0.21326	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3641	347824	4	155511897	T	C	297315	Benign	Familial_visceral_amyloidosis,_Ostertag_type|A...	0.64805	.	0.64297	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3642	347911	4	157997377	T	C	297419	Benign	Hyperekplexia	.	.	0.47364	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3643	347917	4	158043559	C	T	297477	Benign	Hyperekplexia	0.43674	.	0.49121	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3644	347924	4	158073913	T	C	297500	Benign	Hyperekplexia	0.0489	0.04729	0.0621	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3645	347932	4	158092040	G	A	292659	Benign	Hyperekplexia	.	.	0.06849	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3646	347940	4	158092422	T	A	297437	Benign	Hyperekplexia	.	.	0.47145	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3647	347943	4	158092733	T	C	292668	Benign	Hyperekplexia	.	.	0.08626	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3648	347948	4	158093061	C	T	297452	Benign	Hyperekplexia	.	.	0.08606	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3649	95075	4	159601676	C	T	100975	Benign	Glutaric_aciduria,_type_2|not_specified|not_pr...	0.65657	0.81192	0.67272	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3650	676122	4	159603110	A	G	660362	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3651	683984	4	159611841	A	AAAG	660570	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3652	680123	4	159617019	C	T	660363	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3653	375483	4	164007820	A	G	362288	association	Chronic_osteomyelitis	.	.	0.80691	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3654	769296	4	165800154	T	C	698419	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3655	348020	4	169418267	A	T	292720	Benign	Carcinoma_of_pancreas	.	.	0.40675	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3656	128099	4	169632959	C	T	133556	Likely_benign	Carcinoma_of_pancreas|not_specified|not_provided	0.00123	0.00154	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3657	182793	4	169799448	A	G	180160	Benign	not_specified|not_provided	.	0.64643	0.47863	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3658	182795	4	169846359	GCT	G	180162	Benign	Hereditary_cancer-predisposing_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3659	348048	4	169847646	TA	T	294114	Benign	Carcinoma_of_pancreas	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3660	348069	4	169849389	C	G	297578	Benign	Carcinoma_of_pancreas	.	.	0.56809	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3661	348072	4	169849477	TA	T	292770	Benign	Carcinoma_of_pancreas	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3662	348083	4	170315166	A	G	294152	Benign	Short_Rib_Polydactyly_Syndrome	.	.	0.36342	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3663	348085	4	170315496	C	T	292774	Benign	Short_Rib_Polydactyly_Syndrome	.	.	0.90575	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3664	667932	4	170315872	G	A	660372	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3665	667931	4	170328209	A	G	660214	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3666	667930	4	170346090	C	T	660577	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3667	667929	4	170346254	A	G	660579	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3668	667928	4	170354476	G	C	660252	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3669	95508	4	170354836	C	T	101407	Benign	Short_rib-polydactyly_syndrome,_Majewski_type|...	0.7923	0.87222	0.79533	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3670	667927	4	170359021	G	A	660376	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3671	671220	4	170398843	T	C	660581	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3672	667924	4	170476699	T	TCA	660272	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3673	667906	4	170506990	C	T	660288	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3674	671200	4	170522973	C	T	660225	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3675	369440	4	175444055	T	C	353669	Benign	Digital_clubbing,_isolated_congenital|Hypertro...	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3676	348224	4	178352679	T	G	294280	Benign	Aspartylglucosaminuria	.	0.61064	0.45687	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3677	683254	4	178353046	G	C	660592	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3678	683253	4	178354667	C	A	660229	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3679	683252	4	178354680	A	T	660407	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3680	558962	4	178355668	C	G	549568	Benign	not_provided	0.98678	0.99669	0.98902	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3681	683243	4	178355880	C	T	660409	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3682	92308	4	178359960	G	C	98219	Benign	Aspartylglucosaminuria|not_specified|not_provided	0.92527	0.97822	0.92093	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3683	683241	4	178360196	T	C	660300	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3684	683240	4	178360476	C	A	660301	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3685	558965	4	178363378	G	A	549571	Benign	not_provided	0.60657	0.65526	0.61042	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3686	677187	4	183601594	G	A	660317	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3687	257347	4	183601847	T	C	251400	Benign	not_specified|not_provided	0.37485	0.44928	0.52017	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3688	667657	4	183602098	C	G	660601	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3689	674012	4	183651063	G	C	660319	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3690	257349	4	183652175	T	C	251402	Benign	not_specified	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3691	677188	4	183664593	G	A	660257	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3692	257353	4	183674697	C	T	251406	Benign	not_specified|not_provided	0.17155	0.19882	0.16474	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3693	674013	4	183674945	G	T	660415	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3694	674014	4	183675227	T	C	660417	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3695	667659	4	183715310	G	C	660326	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3696	667660	4	183718095	C	G	660259	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3697	348256	4	186068637	A	G	292939	Benign	Progressive_External_Ophthalmoplegia_with_Mito...	.	.	0.9365	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3698	348259	4	186068998	G	A	294314	Benign	Progressive_External_Ophthalmoplegia_with_Mito...	.	.	0.03654	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3699	348262	4	186069178	T	C	294317	Benign	Progressive_External_Ophthalmoplegia_with_Mito...	.	.	0.4399	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3700	348271	4	186070432	T	C	297875	Benign	Progressive_External_Ophthalmoplegia_with_Mito...	.	.	0.46865	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3701	348282	4	186071068	G	A	297804	Benign	Progressive_External_Ophthalmoplegia_with_Mito...	.	.	0.43051	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3702	138675	4	186423637	G	A	142378	Benign	not_specified|Cardiovascular_phenotype	0.69668	0.78301	0.65955	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3703	138674	4	186423655	G	A	142377	Benign	not_specified	0.11987	0.15631	0.13918	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3704	671179	4	186423677	G	A	660327	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3705	671178	4	186427841	T	C	660337	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3706	683682	4	186429991	T	G	660356	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3707	683681	4	186444235	T	C	660358	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3708	672915	4	186444698	A	C	660274	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3709	41472	4	187004074	C	T	49908	Benign/Likely_benign	Human_immunodeficiency_virus_type_1,_susceptib...	0.21598	.	0.23183	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3710	470483	4	187005865	C	T	453122	Benign	Herpes_simplex_encephalitis_1	0.06343	.	0.05451	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3711	348288	4	187112682	A	C	294375	Benign	Bietti_crystalline_corneoretinal_dystrophy|Cor...	.	.	0.86222	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3712	348291	4	187112826	A	G	297824	Benign	Bietti_crystalline_corneoretinal_dystrophy|Cor...	.	.	0.4355	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3713	263297	4	187120211	C	A	251427	Benign	Bietti_crystalline_corneoretinal_dystrophy|not...	0.62825	0.58525	0.55931	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3714	166975	4	187122304	C	T	177662	Benign	Bietti_crystalline_corneoretinal_dystrophy|not...	0.36752	0.33771	0.29233	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3715	166976	4	187122319	T	G	177663	Benign	Bietti_crystalline_corneoretinal_dystrophy|not...	0.63994	.	0.57748	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3716	263298	4	187122332	G	A	251428	Benign/Likely_benign	Bietti_crystalline_corneoretinal_dystrophy|not...	0.03852	0.0272	0.03355	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3717	348319	4	187132159	T	G	297909	Benign	Bietti_crystalline_corneoretinal_dystrophy|Cor...	.	.	0.82728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3718	348324	4	187132520	C	T	294421	Benign	Bietti_crystalline_corneoretinal_dystrophy|Cor...	.	.	0.90435	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3719	348325	4	187132536	C	T	297916	Benign	Bietti_crystalline_corneoretinal_dystrophy|Cor...	.	.	0.82728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3720	348351	4	187133031	A	T	293022	Benign	Bietti_crystalline_corneoretinal_dystrophy|Cor...	.	.	0.45767	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3721	348357	4	187133576	A	C	294435	Benign	Bietti_crystalline_corneoretinal_dystrophy|Cor...	.	.	0.90415	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3722	12037	4	187158034	G	A	27076	Conflicting_interpretations_of_pathogenicity	Prekallikrein_deficiency	.	0.53647	0.60463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3723	760971	4	187207381	C	T	774896	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3724	348382	4	187210033	A	G	293066	Likely_benign	Hereditary_factor_XI_deficiency_disease	.	.	0.1284	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3725	348383	4	187210064	G	C	293075	Benign	Hereditary_factor_XI_deficiency_disease	.	.	0.38618	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3726	348385	4	187210247	A	T	298032	Benign	Hereditary_factor_XI_deficiency_disease	.	.	0.38958	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3727	348396	4	187210741	CATT	C	298036	Uncertain_significance	Hereditary_factor_XI_deficiency_disease	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3728	781849	4	187539205	C	T	709288	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3729	259248	5	230980	A	G	251940	Benign/Likely_benign	Pheochromocytoma|Leigh_syndrome|Hereditary_can...	0.91258	.	0.85843	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3730	130283	5	231111	T	C	135730	Benign/Likely_benign	Pheochromocytoma|Leigh_syndrome|Hereditary_can...	0.76869	0.70783	0.65336	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3731	548117	5	610093	C	T	538600	drug_response	vincristine_response_-_Toxicity/ADR	.	.	0.28215	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3732	782944	5	1038075	C	T	709550	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3733	130354	5	1216775	A	G	135801	Likely_benign	not_specified	0.92726	.	0.84006	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3734	39119	5	1255520	G	A	47725	Benign	Aplastic_anemia|Idiopathic_fibrosing_alveoliti...	0.07381	0.12388	0.11781	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3735	539247	5	1266310	A	G	520672	Benign	not_provided	.	.	0.43431	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3736	225783	5	1279790	C	T	227598	Benign	Chronic_osteomyelitis|not_provided	.	.	0.34764	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3737	539266	5	1280028	G	A	520888	Benign	not_provided	.	.	0.16574	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3738	539227	5	1285974	C	A	520975	Benign	not_provided	.	.	0.32149	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3739	39126	5	1294086	C	T	47732	Benign	Aplastic_anemia|Idiopathic_fibrosing_alveoliti...	0.20753	0.40447	0.26558	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3740	539240	5	1295349	A	G	520856	Benign	not_provided	.	.	0.29792	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3741	518359	5	1409127	T	C	508799	Benign	Parkinsonism-dystonia,_infantile,_1	0.99669	0.96388	0.9367	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3742	522347	5	1432825	G	T	512901	Benign	Parkinsonism-dystonia,_infantile,_1	0.28687	0.31903	0.42033	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3743	683110	5	1801936	A	G	661326	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3744	683111	5	1802229	C	T	660881	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3745	683112	5	1814146	G	A	661328	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3746	683115	5	1814783	T	C	660883	Benign	MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3747	354040	5	6599492	TG	T	300127	Likely_benign	Intellectual_Disability,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3748	129841	5	6600064	G	T	135287	Benign/Likely_benign	History_of_neurodevelopmental_disorder|not_spe...	0.06589	.	0.05511	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3749	354054	5	6605532	C	A	300147	Benign	Intellectual_Disability,_Recessive	.	0.66094	0.67532	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3750	129845	5	6632875	G	A	135291	Benign	not_specified|Intellectual_Disability,_Recessive	0.3483	0.33253	0.27676	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3751	129842	5	6633042	C	T	135288	Benign	History_of_neurodevelopmental_disorder|not_spe...	.	0.29417	0.27656	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3752	354067	5	6633222	C	T	304385	Benign	Intellectual_Disability,_Recessive	.	.	0.26238	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3753	7029	5	7870973	A	G	22068	drug_response	Down_syndrome,_susceptibility_to|Neural_tube_d...	.	0.47303	0.36422	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3754	138304	5	7878179	C	T	142007	Benign	Gastrointestinal_stroma_tumor|Disorders_of_Int...	0.32823	0.31547	0.26997	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3755	506293	5	7885794	T	TTC	501264	Benign	not_specified	.	.	0.09006	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3756	138295	5	7891546	G	A	141998	Benign	not_specified	0.01991	.	0.00799	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3757	138296	5	7892933	A	G	141999	Benign	Homocystinuria-Megaloblastic_anemia_due_to_def...	0.01945	0.0152	0.00799	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3758	138297	5	7893005	C	T	142000	Benign	Homocystinuria-Megaloblastic_anemia_due_to_def...	0.02099	0.01606	0.00899	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3759	138299	5	7897061	T	C	142002	Conflicting_interpretations_of_pathogenicity	Homocystinuria-Megaloblastic_anemia_due_to_def...	0.01945	0.01526	0.00799	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3760	138302	5	7897319	G	A	142005	Benign	Disorders_of_Intracellular_Cobalamin_Metabolis...	0.32362	0.3142	0.26637	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3761	354369	5	7900598	T	C	300511	Likely_benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.08307	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3762	354373	5	7900833	T	A	305043	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.48562	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3763	354376	5	7900996	TC	T	300516	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.48622	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3764	350245	5	10250430	G	A	294803	Benign	Neuropathy,_hereditary_sensory,_with_spastic_p...	0.71298	.	0.6853	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3765	350246	5	10250443	T	C	296446	Benign	Neuropathy,_hereditary_sensory,_with_spastic_p...	0.71805	0.78916	0.6853	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3766	350248	5	10254817	A	G	300196	Benign	Neuropathy,_hereditary_sensory,_with_spastic_p...	0.71867	0.78947	0.6859	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3767	350249	5	10256161	T	C	300209	Benign	Neuropathy,_hereditary_sensory,_with_spastic_p...	0.72736	.	0.69249	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3768	350257	5	10262740	C	A	294811	Benign	Neuropathy,_hereditary_sensory,_with_spastic_p...	0.71867	0.78944	0.6859	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3769	350262	5	10264962	A	G	296482	Benign	Sensory_Neuropathy_with_Spastic_Paraplegia	.	.	0.6857	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3770	350264	5	10265076	C	T	296487	Benign	Sensory_Neuropathy_with_Spastic_Paraplegia	.	.	0.6859	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3771	350271	5	10265278	A	G	300281	Benign	Sensory_Neuropathy_with_Spastic_Paraplegia	.	.	0.6859	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3772	350276	5	10265488	A	G	300284	Benign	Sensory_Neuropathy_with_Spastic_Paraplegia	.	.	0.6861	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3773	350278	5	10265719	C	G	296511	Benign	Sensory_Neuropathy_with_Spastic_Paraplegia	.	.	0.66314	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3774	350284	5	10265886	C	CTCTAT	296526	Benign	Sensory_Neuropathy_with_Spastic_Paraplegia	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3775	350288	5	10266067	G	T	300246	Benign	Sensory_Neuropathy_with_Spastic_Paraplegia	.	.	0.88798	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3776	350910	5	13691045	T	C	295377	Benign	Primary_ciliary_dyskinesia	.	.	0.44369	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3777	258001	5	13692279	A	T	251675	Benign	not_specified	0.55259	0.52578	0.50879	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3778	178740	5	13701525	T	C	173682	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.48601	0.50127	0.44768	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3779	163132	5	13701536	T	C	173545	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.53429	0.51897	0.50359	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3780	257989	5	13721378	A	G	251687	Benign	not_specified	0.10165	0.10571	0.05671	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3781	257985	5	13729714	A	G	251688	Benign	not_specified	0.59343	0.60235	0.59764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3782	257980	5	13735892	T	C	251692	Benign	not_specified	0.55936	.	0.55591	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3783	178744	5	13737444	G	A	173548	Benign/Likely_benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.09434	.	0.06569	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3784	407241	5	13841160	A	AT	394769	Pathogenic	Primary_ciliary_dyskinesia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3785	258039	5	13850731	C	A	251744	Benign	not_specified	0.06097	0.05265	0.05331	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3786	258038	5	13850739	T	A	251745	Benign	not_specified	0.33446	.	0.35703	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3787	163154	5	13882841	A	G	173563	Benign/Likely_benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.26988	0.25347	0.2506	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3788	258017	5	13882958	C	T	251764	Benign	not_specified	0.25427	0.30769	0.3157	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3789	178755	5	13900345	A	G	173566	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.52214	0.50153	0.60124	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3790	163157	5	13902220	T	C	173704	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.332	0.41862	0.38838	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3791	163158	5	13913885	A	G	173705	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.42965	0.42202	0.52875	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3792	257987	5	13914775	G	T	251779	Benign	not_specified	0.42779	0.42165	0.52875	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3793	257988	5	13914796	T	C	251780	Benign	not_specified	0.42715	0.42096	0.52855	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3794	258072	5	13919255	T	G	251783	Benign	not_specified	0.22005	0.25856	0.19589	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3795	178760	5	13944512	A	C	173571	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.92557	0.9358	0.91294	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3796	351403	5	14705665	T	C	301744	Benign	Chondrocalcinosis|Craniometaphyseal_dysplasia	.	.	0.70527	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3797	351418	5	14707087	A	G	297626	Likely_benign	Chondrocalcinosis|Craniometaphyseal_dysplasia	.	.	0.0028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3798	351424	5	14707378	G	A	295804	Benign	Chondrocalcinosis|Craniometaphyseal_dysplasia	.	.	0.92073	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3799	351425	5	14707405	GA	G	301758	Benign	Chondrocalcinosis|Craniometaphyseal_dysplasia	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3800	351428	5	14707600	C	T	297645	Benign	Chondrocalcinosis|Craniometaphyseal_dysplasia	.	.	0.92073	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3801	351457	5	14709199	T	C	301573	Benign	Chondrocalcinosis|Craniometaphyseal_dysplasia	.	.	0.96346	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3802	351459	5	14709412	A	AT	301574	Benign	Chondrocalcinosis|Craniometaphyseal_dysplasia	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3803	351468	5	14710035	T	G	301588	Benign	Chondrocalcinosis|Craniometaphyseal_dysplasia	.	.	0.96406	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3804	352675	5	16473838	C	T	298709	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.40795	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3805	352681	5	16474644	T	G	302950	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.32228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3806	352683	5	16474778	C	CT	303128	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3807	518360	5	16477751	C	A	508800	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.73082	0.66247	0.67712	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3808	673439	5	16478120	A	G	660816	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3809	352689	5	16478200	G	A	296804	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.73063	0.66612	0.67752	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3810	673438	5	16479151	A	G	661117	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3811	670508	5	16479220	A	G	661234	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3812	668135	5	16566212	C	T	661064	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3813	286856	5	16617099	A	G	271093	Benign	not_specified	.	0.85881	0.83946	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3814	617842	5	19591174	A	G	609201	Uncertain_significance	Speech-language_disorder_1	0.13863	0.1678	0.09585	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3815	197829	5	33951693	C	G	194990	Benign	not_specified	.	0.6403	0.27496	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3816	197309	5	33954511	T	C	194470	Benign	not_specified	0.95925	0.89677	0.83307	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3817	353244	5	33988535	C	T	303828	Benign/Likely_benign	Oculocutaneous_albinism|Alpha-methylacyl-CoA_r...	.	.	0.19369	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3818	128360	5	33989518	C	T	133809	Benign	Oculocutaneous_albinism|Alpha-methylacyl-CoA_r...	0.75911	0.7016	0.69609	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3819	128359	5	33998768	C	A	133808	Benign/Likely_benign	Alpha-methylacyl-CoA_racemase_deficiency|not_s...	0.11995	0.12683	0.11442	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3820	128358	5	33998883	A	G	133807	Benign	Alpha-methylacyl-CoA_racemase_deficiency|not_s...	0.74865	.	0.71486	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3821	128357	5	34004707	C	T	133806	Benign	Alpha-methylacyl-CoA_racemase_deficiency|not_s...	0.38421	0.41077	0.2526	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3822	128356	5	34008100	C	T	133805	Benign	Alpha-methylacyl-CoA_racemase_deficiency|not_s...	0.41759	0.4227	0.28694	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3823	403471	5	35641582	A	C	389694	Benign	not_specified	0.59572	0.60606	0.67911	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3824	403472	5	35644621	T	C	389682	Benign	not_specified	0.68463	0.72204	0.78415	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3825	403473	5	35654711	C	T	389695	Benign	not_specified	0.59196	0.60123	0.67712	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3826	403475	5	35692775	T	A	389697	Benign	not_specified	0.26075	0.22232	0.35703	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3827	403477	5	35700598	T	C	389646	Benign	not_specified	0.56115	0.50955	0.4405	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3828	403478	5	35709095	C	T	389685	Benign	not_specified	0.75656	0.75556	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3829	403479	5	35709184	G	C	389686	Benign	not_specified	0.75609	0.75565	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3830	403481	5	35753715	T	C	389667	Benign	not_specified	0.54201	0.59335	0.50359	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3831	379998	5	36217997	T	A	368624	Benign	not_specified	0.33062	0.37641	0.32728	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3832	379997	5	36241922	G	A	368629	Benign	not_specified	.	0.49859	0.25839	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3833	676272	5	36242007	G	A	660886	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3834	379996	5	36242212	T	C	368467	Benign	not_specified	.	.	0.30931	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3835	353326	5	36686404	G	A	297395	Benign	Episodic_ataxia	0.23505	0.29768	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3836	353336	5	36686886	A	C	299438	Benign	Episodic_ataxia	.	.	0.35044	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3837	353354	5	36687856	C	T	297413	Benign	Episodic_ataxia	.	.	0.20487	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3838	96333	5	36985303	A	G	102227	Benign	History_of_neurodevelopmental_disorder|Corneli...	0.11379	0.1322	0.1252	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3839	96340	5	37001074	A	G	102234	Benign/Likely_benign	not_specified	0.11318	0.13203	0.1268	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3840	673933	5	37007629	T	C	661216	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3841	673934	5	37019354	G	A	661223	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3842	667677	5	37027258	C	A	661340	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3843	96348	5	37036492	C	T	102242	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.10298	0.22843	0.17153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3844	673993	5	37038517	A	ATATG	661155	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3845	673935	5	37045841	A	G	660889	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3846	667678	5	37061261	A	G	661158	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3847	680164	5	37139291	T	G	661225	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3848	197507	5	37139474	TA	T	194668	Benign/Likely_benign	Joubert_syndrome|not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3849	680162	5	37142778	G	A	661233	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3850	671676	5	37154427	A	G	660892	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3851	680161	5	37162855	T	C	661342	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3852	680160	5	37169994	G	A	661168	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3853	158048	5	37173930	A	C	167895	Benign	Joubert_syndrome|Joubert_syndrome_17|not_speci...	0.17577	0.13507	0.17272	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3854	680158	5	37175888	T	TTTA	661235	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3855	158046	5	37176091	A	G	167893	Benign/Likely_benign	Joubert_syndrome|Joubert_syndrome_17|not_speci...	0.1487	0.12394	0.14237	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3856	158053	5	37247700	G	A	167900	Benign	Joubert_syndrome_17|not_specified	.	0.99991	0.9998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3857	778866	5	37371059	G	A	699089	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3858	353491	5	37814102	T	C	304160	Likely_benign	Hirschsprung_Disease,_Dominant	.	.	0.2476	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3859	353494	5	37814148	A	G	304161	Benign	Hirschsprung_Disease,_Dominant	.	.	0.53994	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3860	353520	5	37839633	T	C	304198	Benign	Hirschsprung_Disease,_Dominant	.	.	0.40535	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3861	353538	5	38476528	A	T	303799	Benign	Stuve-Wiedemann_syndrome	.	.	0.14217	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3862	353589	5	38480499	G	A	299756	Uncertain_significance	Stuve-Wiedemann_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3863	353602	5	38481335	C	T	297587	Benign	Stuve-Wiedemann_syndrome	.	.	0.72903	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3864	353617	5	38486065	C	T	297598	Benign	Stuve-Wiedemann_syndrome	0.18691	0.1909	0.13838	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3865	402465	5	39342308	C	T	389704	Benign	not_specified	0.60634	0.53642	0.6278	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3866	402466	5	39364554	G	A	389708	Benign	not_specified	0.36014	0.36427	0.28614	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3867	402458	5	41199959	G	T	389633	Benign	not_specified	0.60841	0.59361	0.55391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3868	353674	5	41870675	T	C	297643	Benign	Succinyl-CoA_acetoacetate_transferase_deficiency	.	.	0.19649	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3869	353677	5	42565967	T	C	303980	Uncertain_significance	Laron-type_isolated_somatotropin_defect	0.00054	0.00048	0.0002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3870	198051	5	42700044	A	G	195212	Benign	Laron-type_isolated_somatotropin_defect|not_sp...	0.63386	0.71216	0.64157	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3871	255404	5	42719082	C	T	251971	Benign/Likely_benign	Laron-type_isolated_somatotropin_defect|not_sp...	0.02191	0.02257	0.02057	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3872	8658	5	42719239	A	C	23697	Benign	Laron-type_isolated_somatotropin_defect|Famili...	.	0.44339	0.44449	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3873	353693	5	42719826	G	A	303994	Benign	Laron-type_isolated_somatotropin_defect	.	.	0.45567	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3874	353695	5	42720068	T	TA	304005	Benign	Laron-type_isolated_somatotropin_defect	.	.	0.81949	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3875	353706	5	42721023	TTTG	T	304017	Benign	Laron-type_isolated_somatotropin_defect	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3876	353708	5	42721080	G	A	297656	Benign	Laron-type_isolated_somatotropin_defect	.	.	0.78794	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3877	353723	5	44305309	C	G	297679	Benign	Congenital_absence_of_salivary_gland|Levy-Holl...	0.16239	0.21611	0.18391	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3878	353737	5	52344610	A	G	299877	Benign	Platelet-type_bleeding_disorder_9	0.75311	0.72126	0.70228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3879	353796	5	52387150	A	C	297736	Benign	Combined_molybdoflavoprotein_enzyme_deficiency...	.	.	0.79333	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3880	353800	5	52387323	C	T	297741	Benign	Combined_molybdoflavoprotein_enzyme_deficiency...	.	.	0.68011	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3881	353828	5	52388999	C	T	297766	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency...	.	.	0.18371	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3882	353836	5	52389311	G	GGTATGTTTAGC	304488	Uncertain_significance	Platelet-type_bleeding_disorder_9	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3883	353841	5	52389455	A	G	297779	Benign	Combined_molybdoflavoprotein_enzyme_deficiency...	.	.	0.6901	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3884	353851	5	52389811	T	TAAAG	299970	Benign	Combined_molybdoflavoprotein_enzyme_deficiency...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3885	129699	5	52856504	G	C	135145	Benign	Leigh_syndrome|Mitochondrial_complex_I_deficie...	0.66154	0.62765	0.68091	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3886	683100	5	52941835	G	A	661178	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3887	683102	5	52941905	A	G	660908	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3888	129700	5	52942083	A	C	135146	Benign	Leigh_syndrome|Mitochondrial_complex_I_deficie...	0.96878	.	0.94349	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3889	129701	5	52942197	A	G	135147	Benign	Leigh_syndrome|Mitochondrial_complex_I_deficie...	0.79248	0.77345	0.80012	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3890	683104	5	52942408	TAA	T	661246	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3891	683106	5	52942463	C	T	661254	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3892	683108	5	52978722	C	T	661351	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3893	353892	5	52979097	G	A	304535	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficiency	0.4195	0.44849	0.37859	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3894	403074	5	54516521	G	A	389688	Benign	not_specified	.	0.61405	0.48842	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3895	261408	5	54528393	G	C	251972	Benign	not_specified	0.15961	.	0.17772	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3896	518361	5	56111751	G	C	508801	Benign	46,XY_sex_reversal,_type_6	.	0.79554	0.6857	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3897	518362	5	56152416	C	A	508802	Benign	46,XY_sex_reversal,_type_6	0.69893	0.61321	0.52616	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3898	518363	5	56161787	G	A	508803	Benign	46,XY_sex_reversal,_type_6	0.85301	0.8479	0.80431	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3899	518364	5	56177443	G	A	508804	Benign	46,XY_sex_reversal,_type_6	0.65012	0.59835	0.47644	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3900	518365	5	56177743	G	A	508805	Benign	46,XY_sex_reversal,_type_6	0.79847	0.7648	0.70827	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3901	435819	5	56177848	TCAA	T	428439	Benign	46,XY_sex_reversal,_type_6|not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3902	518366	5	56178217	A	C	508806	Benign	46,XY_sex_reversal,_type_6	0.79947	.	0.70827	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3903	353926	5	58266490	G	C	304270	Benign	Acrodysostosis	.	.	0.64656	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3904	353936	5	58267557	C	T	304283	Benign	Acrodysostosis	.	.	0.64756	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3905	353937	5	58267723	A	C	304604	Benign	Acrodysostosis	.	.	0.64736	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3906	353941	5	58267976	T	A	304619	Benign	Acrodysostosis	.	.	0.58906	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3907	353992	5	58286625	C	T	304670	Benign	Acrodysostosis|not_specified	0.81654	0.83838	0.80931	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3908	354027	5	60240986	A	G	297944	Benign	Cockayne_syndrome|Leigh_syndrome|Mitochondrial...	.	.	0.72424	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3909	129691	5	60241142	G	A	135137	Benign	Cockayne_syndrome|Leigh_syndrome|Mitochondrial...	.	0.63875	0.69289	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3910	671559	5	60369083	A	G	661202	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3911	680678	5	60448276	A	G	661357	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3912	380829	5	61642937	T	C	368220	Benign	not_specified	0.25254	0.30072	0.20986	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3913	682855	5	61643816	G	A	661206	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3914	682860	5	61648738	T	G	661381	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3915	682864	5	61649347	T	A	661383	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3916	682867	5	61650843	G	A	661267	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3917	682868	5	61651248	T	C	660921	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3918	682871	5	61653757	C	T	661386	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3919	682874	5	61654187	G	C	661214	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3920	682872	5	61657228	T	C	661219	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3921	682876	5	61657574	T	C	660928	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3922	682877	5	61657586	T	C	661271	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3923	668920	5	61658648	T	A	661281	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3924	682879	5	61659339	C	T	661227	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3925	682882	5	61662457	G	A	661392	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3926	682886	5	61673670	A	G	661398	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3927	682887	5	61676902	G	T	661291	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3928	375667	5	63258565	C	G	362497	drug_response	not_specified|paroxetine_response_-_Efficacy	.	.	0.54673	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3929	769300	5	68396764	T	TG	777613	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3930	43843	5	68720419	T	G	53012	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.34236	.	0.28175	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3931	508084	5	70751818	T	G	501602	Benign	not_specified	0.76714	0.82475	0.77816	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3932	509130	5	70798553	A	T	500910	Likely_benign	not_specified|not_provided	0.00478	0.00562	0.00379	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3933	517819	5	70800475	C	T	501380	Benign	not_specified	0.28322	0.35386	0.32368	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3934	508085	5	70800538	G	A	501609	Benign	not_specified	0.44776	0.4618	0.43271	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3935	506538	5	70806457	G	A	500913	Benign	not_specified	0.45004	0.4631	0.4397	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3936	508086	5	70806649	T	A	500915	Benign	not_specified	0.45353	.	0.4399	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3937	508087	5	70806711	C	G	501387	Benign	not_specified	0.77186	0.82543	0.79074	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3938	508088	5	70806958	G	A	501621	Benign	not_specified	0.80291	0.83435	0.82109	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3939	682760	5	70807991	G	A	661412	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3940	508127	5	70809169	A	G	501630	Benign	not_specified	0.42969	0.42652	0.39956	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3941	508592	5	70818150	C	G	501633	Benign	not_specified|not_provided	0.03182	0.02149	0.02017	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3942	506716	5	70837295	A	C	501636	Benign	not_specified	0.80378	0.83534	0.82268	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3943	508089	5	70840233	C	T	501236	Benign	not_specified	0.42819	0.42655	0.39896	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3944	508090	5	70849021	G	T	501390	Benign	not_specified	0.44997	0.46196	0.43271	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3945	517820	5	70858194	C	T	501246	Benign	not_specified	0.28482	0.35372	0.32368	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3946	684211	5	70882917	A	T	661306	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3947	684213	5	70882950	C	G	661319	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3948	261560	5	70922616	G	A	251976	Benign	not_specified	0.79683	0.83481	0.8135	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3949	684218	5	70927686	C	T	660936	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3950	684219	5	70930509	T	C	661415	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3951	96032	5	70930966	A	G	101926	Benign	3-MCC_Deficiency|not_specified	0.28887	0.36733	0.33007	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3952	684220	5	70936643	C	G	661417	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3953	684221	5	70939437	G	A	661321	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3954	96029	5	70945075	A	G	101923	Benign	3-MCC_Deficiency|not_specified	0.81324	0.87808	0.85144	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3955	684228	5	70948263	C	T	661256	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3956	354106	5	70952934	C	T	304413	Benign	3-MCC_Deficiency	.	.	0.8111	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3957	354124	5	70953885	C	T	300210	Benign	3-MCC_Deficiency	.	.	0.32069	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3958	257378	5	73076511	C	A	251987	Benign	not_specified	0.56955	0.54797	0.57788	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3959	257359	5	73144845	A	G	251992	Benign	not_specified	0.67033	0.65144	0.67632	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3960	257363	5	73163861	C	T	251996	Benign	not_specified	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3961	257371	5	73205463	G	A	252002	Benign	not_specified	0.0256	0.05092	0.03514	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3962	257372	5	73205697	C	G	252003	Benign	not_specified	0.02543	0.05726	0.03654	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3963	257373	5	73205717	C	T	252004	Benign	not_specified	0.02682	0.04869	0.03474	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3964	257374	5	73207372	T	A	252005	Benign	not_specified	0.38488	0.38088	0.30232	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3965	680596	5	73980799	G	C	661332	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3966	369506	5	73980960	C	T	353735	Benign	Sandhoff_disease|not_provided	.	.	0.51038	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3967	369507	5	73980963	GC	G	353736	Benign	Sandhoff_disease	.	.	0.51038	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3968	167173	5	73981270	T	C	177767	Benign	Sandhoff_disease|not_specified	.	0.97082	0.98143	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3969	680598	5	73981662	G	A	661334	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3970	681700	5	73985534	T	C	660941	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3971	256360	5	73992609	G	A	252011	Benign	not_specified	0.90046	0.89184	0.85344	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3972	93202	5	73992881	A	G	99109	Benign/Likely_benign	HEXB_POLYMORPHISM|Sandhoff_disease|not_specifi...	0.12748	0.15148	0.1284	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3973	137480	5	74017499	C	T	141183	Benign	not_specified	0.15816	.	0.1236	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3974	214504	5	74021846	TACTCAA	T	211177	Benign	not_specified|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3975	671623	5	74033944	C	T	661336	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3976	137475	5	74034245	G	A	141178	Benign	not_specified	0.17231	0.12395	0.13918	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3977	137472	5	74037386	T	A	141175	Benign	not_specified	0.14265	0.13181	0.10843	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3978	676215	5	74054595	A	G	660946	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3979	137481	5	74055209	T	C	141184	Benign	not_specified	0.18822	0.12846	0.15575	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3980	14903	5	74648603	A	T	29942	association	Low_density_lipoprotein_cholesterol_level_quan...	.	.	0.4357	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3981	354164	5	76708987	A	G	304827	Benign	Striatal_Degeneration	0.69514	0.70312	0.76518	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3982	354179	5	76722443	G	A	304539	Benign	Striatal_Degeneration	.	.	0.66114	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3983	354185	5	76722816	A	G	304845	Benign	Striatal_Degeneration	.	.	0.05072	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3984	354192	5	76722891	T	C	304550	Benign	Striatal_Degeneration	.	.	0.44549	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3985	162753	5	77425028	A	T	174289	Benign	Hermansky-Pudlak_syndrome|not_specified	0.9328	0.86283	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3986	369509	5	78073025	T	C	353738	Likely_benign	Mucopolysaccharidosis_type_VI	.	.	0.05791	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3987	354256	5	78073039	A	C	298115	Likely_benign	Mucopolysaccharidosis_type_VI	.	.	0.07568	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3988	354262	5	78073245	C	A	304685	Benign	Mucopolysaccharidosis_type_VI	.	.	0.73742	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3989	354287	5	78074918	C	A	298153	Benign	Mucopolysaccharidosis_type_VI	.	.	0.5026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3990	354290	5	78074963	T	G	300434	Likely_benign	Mucopolysaccharidosis_type_VI	.	.	0.17133	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3991	680476	5	78181174	G	A	661273	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3992	92350	5	78181477	C	T	98261	Benign	Mucopolysaccharidosis_type_VI|not_specified|no...	0.3247	0.39073	0.28554	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3993	92357	5	78181577	T	C	98268	Benign/Likely_benign	Mucopolysaccharidosis_type_VI|not_specified|no...	0.05236	0.05269	0.02656	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3994	680475	5	78181850	T	C	661437	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3995	254739	5	78265041	A	G	252018	Benign	not_specified|not_provided	0.29903	0.3203	0.24301	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3996	354323	5	78281373	T	C	300479	Benign	Mucopolysaccharidosis_type_VI	.	.	0.90515	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3997	354331	5	78281909	C	CTG	300491	Benign	Mucopolysaccharidosis_type_VI	.	.	0.95188	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3998	354338	5	78282249	T	C	298198	Benign	Mucopolysaccharidosis_type_VI	.	.	0.81629	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
3999	380066	5	78324352	A	G	368577	Benign	not_specified	0.34361	0.27984	0.30411	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4000	380065	5	78324482	T	C	368583	Benign	not_specified	0.34323	0.27983	0.30411	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4001	380064	5	78326750	G	C	369960	Benign	not_specified	0.34722	0.28077	0.30591	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4002	380063	5	78328560	G	A	368740	Benign	not_specified	0.20191	0.18876	0.19868	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4003	380019	5	78351636	A	C	369997	Benign	not_specified	0.63031	0.64482	0.65056	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4004	785801	5	79025290	G	A	710026	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4005	157590	5	79950163	C	CTGGCGCGTCCCGCCCAGGT	167452	Uncertain_significance	Gastrointestinal_stroma_tumor	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4006	402590	5	79950741	GCCCCCAGCT	G	389689	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4007	354395	5	82815158	A	G	300534	Benign	Vitreoretinopathy|Wagner_syndrome	0.03077	0.03171	0.01997	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4008	354396	5	82815170	A	G	300536	Benign	Vitreoretinopathy|Wagner_syndrome	0.03062	0.0315	0.01997	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4009	259361	5	82815408	G	A	252024	Benign	Vitreoretinopathy|Wagner_syndrome|not_specified	0.17015	0.15265	0.21286	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4010	198803	5	82833145	G	A	195963	Benign	Vitreoretinopathy|Wagner_syndrome|not_specified	0.67207	0.64776	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4011	167820	5	82833369	A	G	176969	Benign	Vitreoretinopathy|Wagner_syndrome|not_specified	0.49862	0.484	0.47105	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4012	167823	5	82834299	G	A	177101	Benign	Vitreoretinopathy|Wagner_syndrome|not_specified	0.38367	0.38105	0.35843	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4013	167824	5	82834630	T	C	178145	Benign	Vitreoretinopathy|Wagner_syndrome|not_specified	0.49792	0.48379	0.46865	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4014	198797	5	82835545	A	G	195957	Benign	Vitreoretinopathy|Wagner_syndrome|not_specified	0.497	0.48349	0.47045	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4015	198798	5	82835724	T	A	195958	Benign	Vitreoretinopathy|Wagner_syndrome|not_specified	0.49546	.	0.46845	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4016	198802	5	82837631	G	T	195962	Benign	Vitreoretinopathy|Wagner_syndrome|not_specified	0.3889	0.38119	0.36062	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4017	259379	5	82875800	C	T	252038	Benign	Vitreoretinopathy|Wagner_syndrome|not_specified	0.97478	0.9755	0.99201	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4018	354492	5	82877682	A	G	305120	Benign	Vitreoretinopathy|Wagner_syndrome	.	.	0.56889	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4019	354493	5	82877689	C	T	304902	Benign	Vitreoretinopathy|Wagner_syndrome	.	.	0.16993	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4020	354494	5	82877794	CT	C	300623	Benign	Vitreoretinopathy|Wagner_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4021	811536	5	86637164	G	GA	799424	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4022	354570	5	88016008	A	G	305013	Benign	Intellectual_Disability,_Stereotypic_Movements...	.	.	0.70128	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4023	354574	5	88016153	A	AT	305209	Benign	Intellectual_Disability,_Stereotypic_Movements...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4024	670880	5	88045029	C	A	661299	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4025	684337	5	88120079	C	CCT	660958	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4026	354599	5	88179070	A	AG	305082	Uncertain_significance	Intellectual_Disability,_Stereotypic_Movements...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4027	670329	5	89918704	T	C	660968	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4028	674374	5	89918725	T	G	661390	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4029	670346	5	89918813	G	C	661314	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4030	670347	5	89924976	C	A	660973	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4031	46305	5	89938587	C	T	55470	Benign	not_specified	0.74864	0.7322	0.82129	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4032	678787	5	89939067	G	A	661461	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4033	678814	5	89940036	G	C	660987	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4034	46313	5	89943571	G	T	55478	Benign	not_specified	0.72749	.	0.8103	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4035	678816	5	89943699	G	A	661465	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4036	678817	5	89947247	C	T	661007	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4037	678818	5	89954184	T	C	661408	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4038	678794	5	89968626	A	T	661470	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4039	678796	5	89968773	G	A	661009	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4040	678797	5	89975629	T	A	661010	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4041	158652	5	89979380	T	C	168549	Benign	not_specified|not_provided	0.29722	0.48685	0.32268	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4042	46343	5	89979589	G	A	55508	Benign	not_specified	0.72752	0.70777	0.80371	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4043	46345	5	89979698	C	T	55510	Benign	not_specified	0.30536	0.35417	0.33726	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4044	46356	5	89985882	A	G	55521	Benign	not_specified	0.3181	0.38742	0.34984	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4045	46358	5	89988412	G	A	55523	Benign	not_specified	0.29178	0.38547	0.32209	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4046	46360	5	89988504	A	G	55525	Benign	not_specified	0.29139	0.3729	0.32228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4047	46365	5	89989779	G	A	55530	Benign	not_specified|not_provided	0.2903	0.35745	0.32209	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4048	46379	5	89990324	A	G	55544	Benign	not_specified	0.73126	0.70901	0.80851	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4049	158654	5	89990545	C	A	168551	Benign	not_specified|not_provided	0.54739	.	0.64717	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4050	674377	5	89993045	T	C	661414	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4051	678800	5	89999968	A	G	661324	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4052	674378	5	90001988	G	T	661335	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4053	678801	5	90006552	T	G	661416	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4054	674379	5	90007196	C	T	661012	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4055	678802	5	90007288	T	A	661343	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4056	46403	5	90012379	G	A	55568	Benign	not_specified	0.06503	0.06861	0.04653	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4057	674380	5	90012614	A	T	661471	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4058	678803	5	90012703	G	A	661473	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4059	674381	5	90015792	C	T	661474	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4060	674382	5	90016129	A	G	661015	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4061	158656	5	90020868	A	C	168553	Benign	not_specified|not_provided	0.71721	0.71052	0.79812	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4062	46409	5	90020923	T	G	55574	Benign	not_specified	0.29627	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4063	158642	5	90021499	G	T	168554	Likely_benign	not_specified	.	0.56979	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4064	678805	5	90021691	C	T	661476	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4065	678806	5	90024277	T	C	661420	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4066	46248	5	90024735	G	A	55413	Benign	not_specified|not_provided	0.75296	0.74838	0.82907	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4067	674384	5	90041161	G	A	661422	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4068	46252	5	90041510	A	G	55417	Benign	not_specified|not_provided	0.03483	0.03008	0.01737	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4069	674385	5	90049238	A	G	661359	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4070	46256	5	90052263	T	TC	55421	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4071	46257	5	90052289	G	A	55422	Benign	not_specified	0.2529	0.34647	0.29613	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4072	46258	5	90052372	C	T	55423	Benign	not_specified|not_provided	0.52035	0.48302	0.53934	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4073	674386	5	90053056	A	G	661490	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4074	678807	5	90059001	T	A	661424	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4075	667602	5	90073390	A	G	661371	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4076	46268	5	90079820	A	G	55433	Benign	not_specified	0.16515	0.17239	0.09225	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4077	678810	5	90103785	T	G	661382	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4078	46282	5	90107108	A	G	55447	Benign	not_specified	0.93612	0.96857	0.94609	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4079	678812	5	90111700	T	C	661441	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4080	46285	5	90119324	G	A	55450	Benign	not_specified	0.9721	0.99201	0.97224	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4081	678813	5	90150228	A	G	661028	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4082	46291	5	90151589	G	A	55456	Benign	Usher_syndrome,_type_2C|not_specified	0.43475	0.53931	0.45907	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4083	678815	5	90368596	C	T	661029	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4084	46299	5	90449031	T	C	55464	Benign	not_specified	0.91668	0.9264	0.89836	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4085	46300	5	90449154	G	A	55465	Benign	not_specified	0.11756	0.12751	0.13818	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4086	354634	5	95728440	A	G	300730	Likely_benign	Proprotein_convertase_1/3_deficiency|Monogenic...	.	.	0.16673	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4087	771152	5	98205532	T	C	699223	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4088	683978	5	110075414	C	A	660814	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4089	671100	5	110092160	A	G	660456	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4090	671104	5	110092531	A	G	660824	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4091	668632	5	110096939	G	A	655620	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4092	262466	5	110439509	A	G	251609	Benign	Primary_open_angle_glaucoma|not_specified	0.23854	0.31847	0.25739	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4093	262465	5	110456704	A	T	251610	Benign	Primary_open_angle_glaucoma|not_specified|not_...	0.2393	0.32083	0.25919	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4094	350362	5	110463631	T	G	300351	Benign	Primary_open_angle_glaucoma	.	.	0.03694	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4095	350370	5	110464008	T	C	300356	Benign	Primary_open_angle_glaucoma	.	.	0.15455	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4096	82711	5	112064475	A	T	93602	other	Familial_colorectal_cancer	.	.	0.3728	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4097	82712	5	112064826	G	C	93603	other	Familial_colorectal_cancer	.	.	0.98742	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4098	82715	5	112066524	G	C	93606	other	Familial_colorectal_cancer	.	.	0.98482	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4099	82717	5	112067142	C	T	93608	other	Familial_colorectal_cancer	.	.	0.21266	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4100	82742	5	112074269	A	G	93633	other	Familial_colorectal_cancer	.	.	0.4359	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4101	82744	5	112074356	C	T	93635	other	Familial_colorectal_cancer	.	.	0.60144	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4102	82748	5	112074722	C	G	93639	other	Familial_colorectal_cancer	.	.	0.4365	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4103	82756	5	112077447	T	A	93647	other	Familial_colorectal_cancer	.	.	0.43091	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4104	82760	5	112077770	A	G	93651	other	Familial_colorectal_cancer	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4105	82761	5	112077920	G	C	93652	other	Familial_colorectal_cancer	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4106	82766	5	112079882	T	G	93657	other	Familial_colorectal_cancer	.	.	0.4365	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4107	82770	5	112080728	G	A	93661	other	Familial_colorectal_cancer	.	.	0.21346	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4108	82779	5	112081924	A	G	93670	other	Familial_colorectal_cancer	.	.	0.4365	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4109	82795	5	112085611	T	G	93686	other	Familial_colorectal_cancer	.	.	0.4369	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4110	82799	5	112086165	T	A	93690	other	Familial_colorectal_cancer	.	.	0.4355	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4111	82801	5	112087327	T	G	93692	other	Familial_colorectal_cancer	.	.	0.61941	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4112	82807	5	112088507	G	A	93698	other	Familial_colorectal_cancer	.	.	0.98223	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4113	82809	5	112089282	T	C	93700	other	Familial_colorectal_cancer	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4114	82811	5	112089480	T	C	93702	other	Familial_colorectal_cancer	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4115	82823	5	112091704	C	G	93714	other	Familial_colorectal_cancer	.	.	0.60483	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4116	82824	5	112092402	T	G	93715	other	Familial_colorectal_cancer	.	.	0.4379	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4117	88625	5	112093955	A	G	94223	other	Familial_colorectal_cancer	.	.	0.98283	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4118	82829	5	112094404	G	A	93720	other	Familial_colorectal_cancer	.	.	0.60324	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4119	82832	5	112095332	G	A	93723	other	Familial_colorectal_cancer	.	.	0.1895	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4120	82836	5	112095775	T	A	93727	other	Familial_colorectal_cancer	.	.	0.43371	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4121	82840	5	112097234	G	A	93731	other	Familial_colorectal_cancer	.	.	0.43111	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4122	82843	5	112097757	A	G	93734	other	Familial_colorectal_cancer	.	.	0.45407	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4123	82845	5	112098911	G	A	93736	other	Familial_colorectal_cancer	.	.	0.98263	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4124	82846	5	112098938	T	A	93737	other	Familial_colorectal_cancer	.	.	0.4379	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4125	82847	5	112099028	A	G	93738	other	Familial_colorectal_cancer	.	.	0.4371	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4126	82859	5	112100027	G	A	93750	other	Familial_colorectal_cancer	.	.	0.62101	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4127	82863	5	112100595	A	C	93754	other	Familial_colorectal_cancer	.	.	0.9972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4128	82868	5	112101457	G	T	93759	other	Familial_colorectal_cancer	.	.	0.54293	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4129	82869	5	112101496	G	A	93760	other	Familial_colorectal_cancer	.	.	0.98243	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4130	82871	5	112101793	C	A	93762	other	Familial_colorectal_cancer	.	.	0.73782	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4131	82878	5	112103963	C	G	93769	other	Familial_colorectal_cancer	.	.	0.4375	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4132	82880	5	112104297	A	G	93771	other	Familial_colorectal_cancer	.	.	0.4383	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4133	82884	5	112105223	A	T	93775	other	Familial_colorectal_cancer	.	.	0.43291	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4134	82887	5	112107058	G	A	93778	other	Familial_colorectal_cancer	.	.	0.4349	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4135	82889	5	112107726	C	T	93780	other	Familial_colorectal_cancer	.	.	0.43251	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4136	82896	5	112108865	T	C	93787	other	Familial_colorectal_cancer	.	.	0.45587	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4137	82901	5	112109779	G	C	93792	other	Familial_colorectal_cancer	.	.	0.63179	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4138	82910	5	112111070	G	A	93801	other	Familial_colorectal_cancer	.	.	0.98243	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4139	82915	5	112111866	G	C	93806	other	Familial_colorectal_cancer	.	.	0.43191	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4140	82924	5	112113527	A	T	93815	other	Familial_colorectal_cancer	.	.	0.4381	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4141	82925	5	112113735	C	T	93816	other	Familial_colorectal_cancer	.	.	0.44549	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4142	82926	5	112113760	T	C	93817	other	Familial_colorectal_cancer	.	.	0.7484	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4143	82927	5	112113772	G	A	93818	other	Familial_colorectal_cancer	.	.	0.4361	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4144	82934	5	112116024	C	T	93825	other	Familial_colorectal_cancer	.	.	0.52496	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4145	82935	5	112116069	G	A	93826	other	Familial_colorectal_cancer	.	.	0.64916	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4146	82939	5	112116773	A	G	93830	other	Familial_colorectal_cancer	.	.	0.45208	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4147	82948	5	112118195	G	A	93839	other	Familial_colorectal_cancer	.	.	0.61721	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4148	82950	5	112118956	C	T	93841	other	Familial_colorectal_cancer	.	.	0.43351	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4149	82966	5	112122532	G	C	93857	other	Familial_colorectal_cancer	.	.	0.44309	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4150	82980	5	112124369	T	C	93871	other	Familial_colorectal_cancer	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4151	83012	5	112130086	C	A	93903	other	Familial_colorectal_cancer	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4152	83018	5	112131288	A	G	93909	other	Familial_colorectal_cancer	.	.	0.46665	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4153	83019	5	112131787	A	G	93910	other	Familial_colorectal_cancer	.	.	0.44988	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4154	83030	5	112135067	T	C	93921	other	Familial_colorectal_cancer	.	.	0.99101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4155	83031	5	112135090	G	A	93922	other	Familial_colorectal_cancer	.	.	0.44309	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4156	83036	5	112135737	A	G	93927	other	Familial_colorectal_cancer	.	.	0.4389	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4157	83037	5	112136204	A	G	93928	other	Familial_colorectal_cancer	.	.	0.4389	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4158	83046	5	112138734	G	A	93937	other	Familial_colorectal_cancer	.	.	0.74661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4159	83047	5	112138888	G	C	93938	other	Familial_colorectal_cancer	.	.	0.66534	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4160	83049	5	112139745	A	G	93940	other	Familial_colorectal_cancer	.	.	0.4381	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4161	83070	5	112144023	A	G	93961	other	Familial_colorectal_cancer	.	.	0.44189	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4162	83071	5	112144444	A	T	93962	other	Familial_colorectal_cancer	.	.	0.4349	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4163	83073	5	112144954	T	C	93964	other	Familial_colorectal_cancer	.	.	0.73922	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4164	83075	5	112145261	C	A	93966	other	Familial_colorectal_cancer	.	.	0.43231	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4165	83081	5	112146197	T	G	93972	other	Familial_colorectal_cancer	.	.	0.4361	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4166	83089	5	112149757	T	C	93980	other	Familial_colorectal_cancer	.	.	0.78514	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4167	83110	5	112153119	C	T	94001	other	Familial_colorectal_cancer	.	.	0.69469	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4168	83112	5	112153495	A	G	94003	other	Familial_colorectal_cancer	.	.	0.74661	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4169	83113	5	112153665	C	T	94004	other	Familial_colorectal_cancer	.	.	0.69509	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4170	83118	5	112153996	C	G	94009	other	Familial_colorectal_cancer	.	.	0.73722	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4171	83121	5	112154303	T	G	94012	other	Familial_colorectal_cancer	.	.	0.70567	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4172	83127	5	112155504	C	G	94018	other	Familial_colorectal_cancer	.	.	0.73722	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4173	83128	5	112155793	G	C	94019	other	Familial_colorectal_cancer	.	.	0.68391	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4174	83136	5	112158431	G	A	94027	other	Familial_colorectal_cancer	.	.	0.67911	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4175	83139	5	112159385	A	G	94030	other	Familial_colorectal_cancer	.	.	0.99101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4176	83140	5	112159470	A	G	94031	other	Familial_colorectal_cancer	.	.	0.4357	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4177	83142	5	112159562	A	G	94033	other	Familial_colorectal_cancer	.	.	0.81629	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4178	83152	5	112161469	C	A	94043	other	Familial_colorectal_cancer	.	.	0.4381	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4179	83157	5	112162413	A	G	94048	other	Familial_colorectal_cancer	.	.	0.49701	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4180	42238	5	112162854	T	C	51408	Benign	Hepatocellular_carcinoma|Neoplasm_of_stomach|C...	0.46217	0.57798	0.50998	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4181	83162	5	112164238	C	T	94053	other	Familial_colorectal_cancer	.	.	0.67412	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4182	42239	5	112164561	G	A	51409	Benign	Hereditary_cancer-predisposing_syndrome|Famili...	0.58644	0.64811	0.66613	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4183	83163	5	112164862	G	A	94054	other	Familial_colorectal_cancer	.	.	0.4399	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4184	83181	5	112166862	G	A	94072	other	Familial_colorectal_cancer	.	.	0.43211	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4185	83182	5	112167130	T	G	94073	other	Familial_colorectal_cancer	.	.	0.6901	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4186	83183	5	112167587	T	C	94074	other	Familial_colorectal_cancer	.	.	0.43391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4187	83184	5	112167821	C	T	94075	other	Familial_colorectal_cancer	.	.	0.62001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4188	83185	5	112167941	C	G	94076	other	Familial_colorectal_cancer	.	.	0.62061	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4189	83186	5	112168065	A	G	94077	other	Familial_colorectal_cancer	.	.	0.62021	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4190	83187	5	112168130	G	C	94078	other	Familial_colorectal_cancer	.	.	0.62001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4191	83196	5	112169525	T	A	94087	other	Familial_colorectal_cancer	.	.	0.73722	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4192	83209	5	112170358	G	A	94100	other	Familial_colorectal_cancer	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4193	83226	5	112172219	G	A	94117	other	Familial_colorectal_cancer	.	.	0.67752	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4194	83228	5	112172786	G	T	94119	other	Familial_colorectal_cancer	.	.	0.67552	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4195	83229	5	112172930	T	C	94120	other	Familial_colorectal_cancer	.	.	0.5006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4196	42242	5	112175770	G	A	51412	Benign	Hereditary_cancer-predisposing_syndrome|Famili...	0.58622	0.64857	0.66554	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4197	42243	5	112176325	G	A	51413	Benign	Hereditary_cancer-predisposing_syndrome|Famili...	0.59013	0.65139	0.66673	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4198	42245	5	112176559	T	G	51415	Benign	Hereditary_cancer-predisposing_syndrome|Famili...	0.58799	.	0.66693	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4199	21030	5	112176756	T	A	33882	Benign	Hereditary_cancer-predisposing_syndrome|Famili...	0.82626	0.79811	0.86542	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4200	42247	5	112177171	G	A	51417	Benign	Hereditary_cancer-predisposing_syndrome|Famili...	0.58691	0.64881	0.66653	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4201	350430	5	112180228	C	CA	300417	Benign	APC-Associated_Polyposis_Disorders	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4202	83260	5	112180921	T	C	94151	Benign	Familial_colorectal_cancer|APC-Associated_Poly...	.	.	0.4369	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4203	83262	5	112181379	C	G	94153	Benign	Familial_colorectal_cancer|APC-Associated_Poly...	.	.	0.44189	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4204	83263	5	112181576	G	A	94154	Benign	Familial_colorectal_cancer|APC-Associated_Poly...	.	.	0.69728	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4205	83268	5	112182232	A	T	94159	other	Familial_colorectal_cancer	.	.	0.69768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4206	83272	5	112182379	G	A	94163	other	Familial_colorectal_cancer	.	.	0.69768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4207	83275	5	112182691	A	G	94166	other	Familial_colorectal_cancer	.	.	0.51757	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4208	83276	5	112183157	A	G	94167	other	Familial_colorectal_cancer	.	.	0.44669	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4209	83284	5	112184490	T	C	94175	other	Familial_colorectal_cancer	.	.	0.46286	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4210	83292	5	112185393	A	C	94183	other	Familial_colorectal_cancer	.	.	0.70567	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4211	83296	5	112185451	A	G	94187	other	Familial_colorectal_cancer	.	.	0.70627	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4212	83297	5	112185491	A	G	94188	other	Familial_colorectal_cancer	.	.	0.70587	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4213	83298	5	112185513	A	C	94189	other	Familial_colorectal_cancer	.	.	0.44629	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4214	83300	5	112186064	C	A	94191	other	Familial_colorectal_cancer	.	.	0.72923	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4215	769303	5	112406785	G	GCCTCGCGCTGTCTT	777467	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4216	769304	5	115249078	C	T	698737	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4217	350457	5	118788196	C	G	294951	Benign	Bifunctional_peroxisomal_enzyme_deficiency|Per...	.	.	0.40635	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4218	198079	5	118811533	G	A	195240	Benign	Bifunctional_peroxisomal_enzyme_deficiency|Per...	.	0.44004	0.36262	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4219	226667	5	118861713	A	G	229226	Benign	Bifunctional_peroxisomal_enzyme_deficiency|Per...	0.40441	0.41099	0.40016	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4220	350475	5	118877933	T	TA	296734	Benign	Bifunctional_peroxisomal_enzyme_deficiency|Per...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4221	14363	5	121413208	C	T	29402	Benign	LYSYL_OXIDASE_POLYMORPHISM	.	0.17281	0.15675	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4222	769305	5	122425971	A	ACCTCCGCCT	698749	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4223	350520	5	125877635	A	G	295016	Benign	Pyridoxine-dependent_epilepsy	.	.	0.47185	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4224	350531	5	125878158	C	T	300529	Benign	Pyridoxine-dependent_epilepsy	.	.	0.48562	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4225	350545	5	125878908	CA	AT	296855	Uncertain_significance	Pyridoxine-dependent_epilepsy	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4226	350549	5	125878954	CA	C	300605	Benign	Pyridoxine-dependent_epilepsy	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4227	350560	5	125879549	C	T	295051	Benign	Pyridoxine-dependent_epilepsy	.	.	0.49161	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4228	350571	5	125879850	G	C	300644	Benign	Pyridoxine-dependent_epilepsy	.	.	0.57588	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4229	350580	5	125880589	T	C	300539	Benign	Pyridoxine-dependent_epilepsy	0.4343	.	0.36062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4230	670821	5	125886071	C	T	660644	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4231	667962	5	125895313	T	C	660703	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4232	674701	5	125896918	C	A	660704	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4233	350588	5	125930950	C	T	300549	Benign/Likely_benign	Pyridoxine-dependent_epilepsy	.	0.03423	0.01238	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4234	350622	5	126171999	T	C	300706	Benign	Leukodystrophy,_Adult-Onset	0.65259	0.67513	0.67272	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4235	350623	5	126172195	C	T	300712	Benign	Leukodystrophy,_Adult-Onset	.	.	0.44788	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4236	350631	5	126626645	G	A	295112	Likely_benign	Myopathy,_areflexia,_respiratory_distress,_and...	.	.	0.34066	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4237	683157	5	126674613	A	G	660863	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4238	683182	5	126738041	A	C	660679	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4239	262060	5	126746277	C	T	251627	Benign	Myopathy,_areflexia,_respiratory_distress,_and...	0.94095	0.94472	0.97344	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4240	683183	5	126746434	G	A	660509	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4241	671490	5	126756195	G	C	660683	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4242	262065	5	126769146	T	C	251629	Benign/Likely_benign	Myopathy,_areflexia,_respiratory_distress,_and...	0.19653	0.16239	0.19149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4243	671492	5	126773859	A	C	660868	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4244	671513	5	126790841	T	G	660775	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4245	262075	5	126791282	G	A	251637	Benign/Likely_benign	Myopathy,_areflexia,_respiratory_distress,_and...	0.1437	0.14196	0.12061	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4246	262076	5	126792974	T	A	251638	Benign/Likely_benign	Myopathy,_areflexia,_respiratory_distress,_and...	0.49339	0.52751	0.378	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4247	350677	5	126793219	C	G	300797	Benign	Myopathy,_areflexia,_respiratory_distress,_and...	.	.	0.64157	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4248	350681	5	126793635	A	G	300798	Likely_benign	Myopathy,_areflexia,_respiratory_distress,_and...	.	.	0.08087	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4249	350700	5	126795159	G	A	295172	Likely_benign	Myopathy,_areflexia,_respiratory_distress,_and...	.	.	0.24581	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4250	350703	5	126795246	C	A	300658	Benign	Myopathy,_areflexia,_respiratory_distress,_and...	.	.	0.63978	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4251	350713	5	126796531	TCA	T	297005	Likely_benign	Myopathy,_areflexia,_respiratory_distress,_and...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4252	350717	5	126796585	T	G	300673	Benign	Myopathy,_areflexia,_respiratory_distress,_and...	.	.	0.64717	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4253	350743	5	127594512	T	C	295239	Benign	Congenital_contractural_arachnodactyly	.	.	0.98562	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4254	683537	5	127610002	C	T	660909	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4255	678490	5	127611499	A	T	660546	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4256	683536	5	127613299	G	T	660914	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4257	672325	5	127613791	C	G	660922	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4258	129049	5	127614472	A	G	134495	Benign	Congenital_contractural_arachnodactyly|not_spe...	0.67792	0.72811	0.72664	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4259	137347	5	127622983	C	T	141050	Benign	Congenital_contractural_arachnodactyly|not_spe...	0.44357	0.51842	0.35763	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4260	137345	5	127625559	T	C	141048	Benign	Congenital_contractural_arachnodactyly|not_spe...	0.12631	0.19683	0.14417	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4261	672323	5	127638464	A	C	660957	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4262	673344	5	127638553	T	C	660801	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4263	671004	5	127640861	A	G	660745	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4264	672322	5	127645287	T	A	660807	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4265	672321	5	127648188	G	A	660965	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4266	683531	5	127668991	C	T	660969	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4267	672318	5	127671924	A	G	660562	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4268	683530	5	127674132	G	A	660564	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4269	669972	5	127675017	C	T	660762	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4270	678489	5	127680818	C	T	660847	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4271	683529	5	127681574	G	A	660785	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4272	129039	5	127685135	C	T	134485	Benign	Congenital_contractural_arachnodactyly|not_spe...	.	0.72339	0.73103	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4273	669639	5	127744825	C	T	660991	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4274	674265	5	127854758	C	T	660866	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4275	674264	5	127854848	T	A	660995	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4276	350798	5	127873605	T	C	295269	Benign	Congenital_contractural_arachnodactyly	.	.	0.4375	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4277	675097	5	127873807	C	T	660812	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4278	774633	5	130764699	A	T	698766	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4279	5750	5	131676320	C	T	20789	Benign	SLC22A4_POLYMORPHISM	.	0.29127	0.13439	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4280	350806	5	131705458	C	G	300783	Benign	Renal_carnitine_transport_defect	.	.	0.73303	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4281	94099	5	131705949	T	C	99999	Benign	Renal_carnitine_transport_defect|not_specified...	0.3497	0.49683	0.48622	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4282	670572	5	131714409	C	T	661014	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4283	25382	5	131719999	A	G	36716	Benign	Renal_carnitine_transport_defect|not_specified...	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4284	25383	5	131720070	A	G	36717	Benign	Renal_carnitine_transport_defect	.	.	0.48602	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4285	94101	5	131721174	A	G	100001	Benign	Renal_carnitine_transport_defect|not_specified...	0.37829	0.43926	0.48622	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4286	94102	5	131721204	T	C	100002	Benign	Renal_carnitine_transport_defect|not_specified...	0.3739	0.4399	0.48602	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4287	670106	5	131724950	T	C	660900	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4288	670107	5	131729118	A	C	660851	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4289	350820	5	131730052	CA	C	300792	Benign	Renal_carnitine_transport_defect	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4290	350827	5	131730807	T	C	300804	Benign	Renal_carnitine_transport_defect	.	.	0.74421	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4291	350831	5	131730923	A	AC	300759	Benign	Renal_carnitine_transport_defect	.	.	0.76737	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4292	14673	5	131995964	A	G	29712	risk_factor	Allergic_rhinitis,_susceptibility_to|Asthma,_s...	.	0.73363	0.73003	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4293	137459	5	132198100	C	T	141162	Benign	not_specified	0.18553	0.14263	0.13478	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4294	350851	5	132203952	G	A	295333	Likely_benign	Mitochondrial_complex_III_deficiency,_nuclear_...	.	.	0.10543	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4295	350852	5	132203997	A	G	300854	Likely_benign	Mitochondrial_complex_III_deficiency,_nuclear_...	.	.	0.17073	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4296	350854	5	132204031	G	A	295343	Likely_benign	Mitochondrial_complex_III_deficiency,_nuclear_...	.	.	0.04792	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4297	286868	5	134364518	C	G	271105	Benign	not_specified	0.21659	0.30014	0.31989	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4298	218643	5	136834138	T	C	215308	Benign	not_specified	0.00884	0.00923	0.00379	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4299	350923	5	136953577	T	C	301103	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.6266	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4300	350942	5	136954719	T	C	297212	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.6268	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4301	350943	5	136954861	A	G	297218	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.30032	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4302	350956	5	136955707	T	G	301170	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.1236	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4303	350965	5	136956477	G	A	301186	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.29553	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4304	350976	5	136957466	TAC	T	295447	Uncertain_significance	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4305	260809	5	137028029	T	C	251708	Benign	Pseudohypoaldosteronism_type_1_autosomal_domin...	0.77903	0.7926	0.82808	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4306	167317	5	137206560	A	C	177851	Benign	Myofibrillar_myopathy_3|not_specified	0.98516	0.99591	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4307	667621	5	137211268	T	G	661034	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4308	770357	5	137527948	C	T	777510	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4309	670083	5	138356756	G	A	660862	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4310	670082	5	138356775	C	A	660653	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4311	670081	5	138357211	A	G	660870	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4312	670080	5	138362283	C	T	660657	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4313	670079	5	138386859	C	A	660912	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4314	96085	5	138456815	T	C	101979	Benign	Marinesco-Sjögren_syndrome|not_specified|not_p...	0.51422	0.43544	0.42692	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4315	351111	5	138609609	C	G	297367	Benign	Distal_myopathy	.	0.63249	0.42033	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4316	351117	5	138642997	A	AT	297372	Benign	Distal_myopathy	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4317	263207	5	138643062	T	A	251790	Benign	Distal_myopathy|not_specified	0.54422	.	0.44649	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4318	351158	5	138665756	G	A	301471	Benign	Distal_myopathy	.	0.62354	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4319	351170	5	138666372	T	G	297420	Benign	Distal_myopathy	.	0.65741	0.39996	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4320	403550	5	138857919	T	C	389615	Benign	Sting-associated_vasculopathy,_infantile-onset...	0.87006	0.87599	0.8728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4321	403551	5	138861146	C	G	389619	Benign	not_specified	0.53929	.	0.42851	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4322	671555	5	140077699	A	G	660924	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4323	769659	5	140475980	G	A	698859	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4324	768037	5	140559532	G	C	698871	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4325	768038	5	140580931	C	G	698873	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4326	351285	5	140896402	G	A	301552	Uncertain_significance	Nonsyndromic_Hearing_Loss,_Mixed	0.00103	.	0.0006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4327	683199	5	140896599	T	C	660930	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4328	512678	5	141336264	G	T	501336	Benign	not_specified	0.63286	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4329	351314	5	142657621	T	C	301396	Likely_benign	Glucocorticoid_resistance,_generalized	.	.	0.08387	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4330	351321	5	142658156	C	A	301406	Likely_benign	Glucocorticoid_resistance,_generalized	.	.	0.40156	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4331	214569	5	145500084	A	C	211128	Benign	not_specified	0.00054	0.00293	0.0022	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4332	684159	5	145512951	G	C	660876	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4333	671557	5	145515379	C	T	660882	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4334	684157	5	145524514	A	G	661069	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4335	684150	5	145533786	A	T	661071	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4336	684148	5	145537535	C	T	661081	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4337	684146	5	145539259	G	C	660699	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4338	684138	5	145543579	G	A	660705	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4339	684128	5	145552542	T	C	660997	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4340	673294	5	147445023	C	G	660897	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4341	260048	5	147450028	C	T	251798	Benign/Likely_benign	Netherton_syndrome|not_specified	0.03674	0.04822	0.06689	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4342	677108	5	147450247	A	G	660925	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4343	667627	5	147451416	A	G	661089	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4344	139254	5	147466001	G	A	142957	Benign/Likely_benign	Netherton_syndrome|not_specified	0.02304	0.04423	0.05232	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4345	673397	5	147474357	A	T	660932	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4346	673297	5	147475627	G	A	660721	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4347	677116	5	147478574	C	G	660723	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4348	139258	5	147480080	G	A	142961	Benign	Netherton_syndrome|not_specified	0.23171	0.2119	0.34824	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4349	677118	5	147486359	C	T	660736	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4350	139261	5	147492461	T	C	142964	Benign/Likely_benign	Netherton_syndrome|not_specified	0.02634	0.04478	0.05391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4351	674424	5	147493780	T	G	661102	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4352	677139	5	147498849	C	T	661106	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4353	667633	5	147503820	A	C	661129	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4354	139263	5	147504315	A	T	142966	Benign	Netherton_syndrome|not_specified	0.70858	0.80848	0.82927	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4355	674283	5	147504905	A	G	661132	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4356	351541	5	147506593	A	G	295922	Benign/Likely_benign	Netherton_syndrome	0.02355	0.02471	0.01018	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4357	351546	5	147516598	T	C	295931	Benign	Netherton_syndrome	0.44147	0.41167	0.49101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4358	351549	5	147516762	C	G	301666	Benign	Netherton_syndrome	.	.	0.49101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4359	351553	5	147516914	A	ACTC	295937	Benign	Netherton_syndrome	.	.	0.49101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4360	225937	5	148206440	G	A	227753	drug_response	salbutamol_response_-_Efficacy|salmeterol_resp...	.	0.42036	0.47564	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4361	351562	5	148361720	A	AT	301872	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4362	351593	5	148364355	A	G	296006	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.80232	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4363	351594	5	148364701	C	T	296012	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.47165	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4364	351605	5	148365234	T	C	301704	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.50919	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4365	351609	5	148365720	C	A	301939	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.79732	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4366	351616	5	148366571	T	C	296023	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.6234	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4367	351622	5	148367324	A	G	297801	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.78814	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4368	351634	5	148367643	C	T	297822	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.46126	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4369	351643	5	148368254	T	G	301736	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.61801	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4370	351645	5	148368451	A	G	297828	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.79812	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4371	351658	5	148369418	G	T	302017	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.19728	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4372	351661	5	148369508	A	T	302031	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.49361	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4373	351664	5	148369712	C	T	301788	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.19788	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4374	351694	5	148372884	T	C	301849	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.52975	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4375	351748	5	148375651	CA	C	301874	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4376	351758	5	148376026	C	G	301896	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.19828	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4377	351761	5	148376163	T	G	302127	Uncertain_significance	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4378	351769	5	148376982	G	A	301906	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.49221	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4379	351801	5	148378475	G	A	301946	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.20288	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4380	351808	5	148378784	C	T	302199	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.52915	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4381	351835	5	148380580	A	T	297965	Uncertain_significance	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.00719	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4382	351839	5	148381078	A	G	301974	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.34964	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4383	351841	5	148381138	C	T	302232	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.99042	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4384	351843	5	148381197	G	A	302233	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.52975	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4385	351848	5	148381318	G	A	297978	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4386	351866	5	148382365	C	A	297984	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.20347	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4387	351868	5	148382635	A	G	297996	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	.	0.20367	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4388	351874	5	148383345	C	G	301987	Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	.	0.29191	0.3127	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4389	130299	5	148386525	T	G	135746	Benign/Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	0.45971	.	0.38339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4390	670077	5	148389608	G	C	661049	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4391	673389	5	148389763	G	A	660956	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4392	671720	5	148392362	A	G	660749	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4393	672628	5	148392538	C	T	660966	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4394	130298	5	148407708	A	C	135745	Benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	0.9777	0.97847	0.99062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4395	130297	5	148407893	C	A	135744	Benign/Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	0.23828	.	0.19629	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4396	130296	5	148408101	A	G	135743	Benign/Likely_benign	Mononeuropathy_of_the_Median_Nerve|Charcot-Mar...	0.4847	0.44561	0.4371	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4397	670074	5	148411369	C	T	661150	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4398	684359	5	148432061	C	A	661051	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4399	684358	5	148443080	T	C	661057	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4400	2039	5	149212243	G	C	17078	Benign	Obesity,_variation_in	.	0.09619	0.10963	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4401	351948	5	149238348	T	C	298082	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.53914	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4402	351954	5	149238449	A	G	302356	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.54633	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4403	351962	5	149239093	C	T	296264	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.5597	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4404	351970	5	149239662	T	C	298085	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.58406	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4405	351971	5	149239702	A	G	302383	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.59625	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4406	351972	5	149239850	A	G	296270	Benign	Retinitis_Pigmentosa,_Recessive	.	.	0.58427	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4407	351975	5	149240216	A	AT	302132	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4408	138632	5	149323772	G	A	142335	Benign/Likely_benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.17546	0.19982	0.249	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4409	138637	5	149323906	T	G	142340	Benign/Likely_benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.20737	.	0.28255	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4410	65559	5	149360630	C	T	76467	Benign/Likely_benign	Achondrogenesis|Osteochondrodysplasia|Diastrop...	0.0153	0.01692	0.00759	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4411	196209	5	149360877	T	C	193370	Benign	Achondrogenesis|Osteochondrodysplasia|Diastrop...	0.99323	0.99277	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4412	352046	5	149362400	T	G	302205	Benign	Achondrogenesis|Osteochondrodysplasia|Diastrop...	.	.	0.27396	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4413	352075	5	149364780	C	T	302455	Benign	Achondrogenesis|Osteochondrodysplasia|Diastrop...	.	.	0.99201	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4414	352088	5	149365836	GT	G	302486	Benign	Achondrogenesis|Osteochondrodysplasia|Diastrop...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4415	352107	5	149433120	A	G	302554	Benign	Hereditary_diffuse_leukoencephalopathy_with_sp...	.	.	0.11601	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4416	352114	5	149433400	G	GC	302563	Benign	Hereditary_diffuse_leukoencephalopathy_with_sp...	.	.	0.45228	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4417	352165	5	149457678	G	A	302347	Benign	Hereditary_diffuse_leukoencephalopathy_with_sp...	0.4807	0.51531	0.38738	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4418	352179	5	149460553	A	G	302657	Benign	Hereditary_diffuse_leukoencephalopathy_with_sp...	0.4737	0.48718	0.33526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4419	258779	5	149495395	T	C	251818	Benign	not_specified	0.39897	0.34743	0.28534	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4420	258778	5	149497177	T	C	251819	Benign	not_specified	0.41066	0.3564	0.29892	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4421	712760	5	149499618	G	A	721302	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4422	258776	5	149499672	T	C	251821	Benign	not_specified	0.28102	0.28712	0.23642	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4423	465196	5	149677818	G	A	454819	Benign	Spastic_paraplegia	0.03683	0.03411	0.02436	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4424	352189	5	149737221	T	G	296414	Benign	Treacher_Collins_Syndrome,_Dominant	.	.	0.9994	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4425	130570	5	149759201	C	T	136016	Benign/Likely_benign	not_specified|Treacher_Collins_Syndrome,_Domin...	0.02245	0.00875	0.02276	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4426	130571	5	149772280	C	G	136017	Benign/Likely_benign	not_specified|Treacher_Collins_Syndrome,_Dominant	0.17061	.	0.08147	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4427	130574	5	149776232	C	T	136020	Benign	not_specified|Treacher_Collins_Syndrome,_Dominant	0.21029	0.29218	0.22404	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4428	130575	5	149776355	G	C	136021	Benign/Likely_benign	Treacher_Collins_syndrome_1|not_specified|Trea...	0.01531	0.02308	0.01078	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4429	30716	5	150227998	C	T	39673	Pathogenic	Inflammatory_bowel_disease_19	0.19492	0.1913	0.30371	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4430	167150	5	150639409	A	G	176964	Benign	Tay-Sachs_disease,_variant_AB|not_specified|no...	0.60864	0.6645	0.66394	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4431	167151	5	150639439	A	G	177227	Benign	Tay-Sachs_disease,_variant_AB|not_specified|no...	0.7229	0.76227	0.86022	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4432	352259	5	150647239	A	G	302730	Benign	Tay-Sachs_disease,_variant_AB	0.3986	0.44437	0.44349	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4433	352277	5	150647956	T	C	296480	Benign	Tay-Sachs_disease,_variant_AB	.	.	0.71066	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4434	352278	5	150648242	C	CA	302473	Benign	Tay-Sachs_disease,_variant_AB	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4435	352281	5	150648284	T	TC	296485	Benign	Tay-Sachs_disease,_variant_AB	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4436	352284	5	150648457	G	A	302476	Benign	Tay-Sachs_disease,_variant_AB	.	.	0.28894	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4437	352291	5	150649153	C	T	298381	Benign	Tay-Sachs_disease,_variant_AB	.	.	0.46406	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4438	352300	5	150649725	TAATA	T	298400	Benign	Tay-Sachs_disease,_variant_AB	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4439	352328	5	151304306	G	A	296512	Benign	Hyperekplexia	.	.	0.41613	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4440	48114	5	155754192	C	G	57278	Benign	Delta-sarcoglycanopathy|not_specified|Dilated_...	.	.	0.46046	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4441	670058	5	155756299	A	G	661163	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4442	672529	5	155756414	G	A	660756	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4443	672039	5	155771356	A	G	660763	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4444	48125	5	155771579	T	C	57289	Benign	Limb-girdle_muscular_dystrophy,_type_2F|Delta-...	0.37766	0.46605	0.48542	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4445	672040	5	155771773	A	G	661076	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4446	672041	5	155771879	G	A	661077	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4447	672042	5	156074713	A	C	661000	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4448	352353	5	156187928	C	T	302542	Benign	Delta-sarcoglycanopathy|Dilated_Cardiomyopathy...	.	.	0.20727	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4449	352430	5	156193118	G	A	302910	Benign	Delta-sarcoglycanopathy|Dilated_Cardiomyopathy...	.	.	0.92712	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4450	352488	5	156680685	A	G	296664	Benign	Lymphoproliferative_syndrome	.	.	0.83347	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4451	257433	5	156887133	A	G	251833	Benign	Congenital_ichthyosiform_erythroderma|not_spec...	0.31729	0.5	0.44249	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4452	257436	5	156898690	A	G	251834	Benign	Congenital_ichthyosiform_erythroderma|not_spec...	0.44935	0.53466	0.50459	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4453	257434	5	156899869	T	C	251835	Benign	Congenital_ichthyosiform_erythroderma|not_spec...	0.97228	0.97671	0.98682	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4454	352526	5	156900047	C	T	303000	Likely_benign	Congenital_ichthyosiform_erythroderma	.	.	0.03874	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4455	352532	5	156900534	C	A	303001	Likely_benign	Congenital_ichthyosiform_erythroderma	.	.	0.03874	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4456	352538	5	156900878	A	T	302695	Benign	Congenital_ichthyosiform_erythroderma	.	.	0.50539	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4457	352543	5	156901324	T	C	298563	Benign	Congenital_ichthyosiform_erythroderma	.	.	0.90695	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4458	352548	5	156901615	T	C	303014	Likely_benign	Congenital_ichthyosiform_erythroderma	.	.	0.04932	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4459	352551	5	156901701	G	T	302697	Likely_benign	Congenital_ichthyosiform_erythroderma	.	.	0.02476	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4460	352554	5	158742014	G	T	303018	Benign	Familial_Atypical_Mycobacteriosis,_Autosomal_R...	.	.	0.92033	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4461	352569	5	158742950	T	G	298595	Benign	Familial_Atypical_Mycobacteriosis,_Autosomal_R...	.	.	0.35903	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4462	668791	5	160762174	C	T	661194	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4463	352592	5	161275302	A	G	296742	Likely_benign	Juvenile_myoclonic_epilepsy	.	.	0.17951	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4464	670653	5	161302728	G	A	661208	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4465	668790	5	161309303	A	G	661040	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4466	668949	5	161310002	A	G	661209	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4467	256816	5	161322654	T	C	251837	Benign	not_specified	0.05244	0.10762	0.07688	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4468	93431	5	161322889	G	A	99338	Benign/Likely_benign	Juvenile_myoclonic_epilepsy|not_specified	0.63786	0.61914	0.59605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4469	681725	5	161323872	C	T	661046	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4470	352608	5	161324898	A	G	302875	Likely_benign	Juvenile_myoclonic_epilepsy	.	.	0.58107	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4471	352614	5	161325934	A	C	302888	Likely_benign	Juvenile_myoclonic_epilepsy	.	.	0.58047	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4472	352637	5	161494990	GA	G	298652	Conflicting_interpretations_of_pathogenicity	Seizures|Generalized_epilepsy_with_febrile_sei...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4473	93434	5	161528280	C	T	99341	Benign	Seizures|Familial_febrile_seizures_8|Generaliz...	0.30709	0.28541	0.37161	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4474	681742	5	161529369	C	T	661109	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4475	585903	5	161529571	A	G	576800	Benign	not_provided	.	0.82058	0.82129	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4476	675185	5	161529731	G	A	661217	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4477	680292	5	161529808	C	T	661221	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4478	674989	5	161576418	C	A	661056	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4479	352655	5	161580983	C	T	298702	Benign	Generalized_epilepsy_with_febrile_seizures_plu...	.	.	0.37939	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4480	352656	5	161581035	T	A	302924	Benign	Generalized_epilepsy_with_febrile_seizures_plu...	.	.	0.51458	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4481	352671	5	161582493	CAT	C	296799	Benign	Generalized_epilepsy_with_febrile_seizures_plu...	.	.	0.30232	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4482	1213	5	167845791	C	T	16252	association	Memory_quantitative_trait_locus	.	.	0.52057	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4483	380030	5	167913510	G	A	368366	Benign	Leukodystrophy,_hypomyelinating,_9|not_specified	0.62039	.	0.68031	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4484	683648	5	167921389	A	G	661245	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4485	673398	5	167928732	A	AATT	661136	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4486	380005	5	167943827	G	A	368381	Benign	not_specified	0.72766	0.67711	0.78415	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4487	802175	5	169097474	G	C	790535	Benign	Immunodeficiency_40	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4488	260212	5	169535522	T	C	251840	Benign	Pendred_syndrome|not_specified|Nonsyndromic_He...	0.90758	0.9089	0.92951	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4489	352717	5	169536055	G	A	298785	Benign	Pendred_syndrome|Nonsyndromic_Hearing_Loss,_Mixed	.	.	0.91673	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4490	352719	5	169536150	A	G	303136	Likely_benign	Pendred_syndrome|Nonsyndromic_Hearing_Loss,_Mixed	.	.	0.86861	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4491	352729	5	171760569	A	G	303002	Benign	Frank_Ter_Haar_syndrome	.	.	0.6855	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4492	352738	5	171761338	C	T	303009	Likely_benign	Frank_Ter_Haar_syndrome	.	.	0.11122	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4493	352747	5	171762100	C	A	298798	Benign	Frank_Ter_Haar_syndrome	.	.	0.71586	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4494	352753	5	171762442	A	AC	296845	Benign	Frank_Ter_Haar_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4495	352755	5	171762575	A	G	298803	Benign	Frank_Ter_Haar_syndrome	.	.	0.5647	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4496	352758	5	171762777	T	C	296848	Benign	Frank_Ter_Haar_syndrome	.	.	0.58946	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4497	352766	5	171763533	G	GT	298810	Benign	Frank_Ter_Haar_syndrome	.	.	0.5611	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4498	352770	5	171763862	T	C	303251	Benign	Frank_Ter_Haar_syndrome	.	.	0.55272	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4499	352774	5	171764101	G	GC	296852	Benign	Frank_Ter_Haar_syndrome	.	.	0.61342	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4500	352775	5	171764120	T	C	296861	Benign	Frank_Ter_Haar_syndrome	.	.	0.68331	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4501	352777	5	171764158	T	C	303090	Benign	Frank_Ter_Haar_syndrome	.	.	0.70308	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4502	352786	5	171764665	C	T	298829	Benign	Frank_Ter_Haar_syndrome	.	.	0.54932	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4503	593782	5	171765540	C	A	584845	Uncertain_significance	not_provided	0.00046	0.00016	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4504	257058	5	171785892	A	G	251843	Benign	Frank_Ter_Haar_syndrome|not_specified|not_prov...	0.72351	0.74129	0.78275	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4505	257056	5	171849471	G	A	251844	Benign	Frank_Ter_Haar_syndrome|not_specified	0.26111	0.36127	0.3746	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4506	352831	5	171881412	G	C	303303	Likely_benign	Frank_Ter_Haar_syndrome	.	.	0.04253	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4507	352832	5	171881423	G	A	303304	Benign	Frank_Ter_Haar_syndrome	.	.	0.21665	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4508	44837	5	172662024	T	C	54004	Benign	not_specified|Cardiovascular_phenotype	0.40419	0.40522	0.53574	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4509	258657	5	174156168	T	C	251846	Benign	Craniosynostosis|Enlarged_parietal_foramina|Pa...	0.75527	.	0.76578	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4510	352849	5	174157096	A	G	303322	Benign	Craniosynostosis|Enlarged_parietal_foramina	.	.	0.78095	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4511	352858	5	174157583	G	GA	298886	Benign	Craniosynostosis|Enlarged_parietal_foramina	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4512	352862	5	174157711	A	G	303333	Benign	Craniosynostosis|Enlarged_parietal_foramina	.	.	0.77596	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4513	352863	5	174157732	T	C	298892	Benign	Craniosynostosis|Enlarged_parietal_foramina	.	.	0.77576	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4514	352864	5	174157762	G	C	298907	Benign	Craniosynostosis|Enlarged_parietal_foramina	.	.	0.82987	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4515	511081	5	174870150	C	T	501106	Likely_benign	not_specified	0.71199	0.68007	0.75539	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4516	16326	5	176520243	G	A	31365	Pathogenic	Cancer_progression_and_tumor_cell_motility	.	0.32098	0.29952	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4517	667729	5	176630984	T	C	661172	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4518	802180	5	176636545	AG	A	790540	Benign	Sotos_syndrome_1	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4519	96035	5	176636882	C	T	101929	Benign	Sotos_syndrome|Weaver_syndrome|History_of_neur...	0.35414	0.29991	0.46805	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4520	96038	5	176637149	G	A	101932	Benign	Sotos_syndrome|Weaver_syndrome|History_of_neur...	0.10043	0.17646	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4521	96042	5	176637240	G	T	101936	Benign	Sotos_syndrome|Weaver_syndrome|History_of_neur...	0.09934	.	0.22863	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4522	96043	5	176637576	T	C	101937	Benign	Sotos_syndrome|Weaver_syndrome|History_of_neur...	0.12633	0.19869	0.2496	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4523	670474	5	176639304	C	G	661112	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4524	667732	5	176710547	C	G	660844	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4525	673609	5	176719409	C	A	661176	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4526	96073	5	176721198	T	C	101967	Benign	Sotos_syndrome|Weaver_syndrome|History_of_neur...	0.89897	.	0.77137	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4527	352925	5	176726002	T	C	297072	Benign	Sotos_syndrome|Weaver_syndrome	.	.	0.76398	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4528	352932	5	176726635	G	A	298992	Benign	Sotos_syndrome|Weaver_syndrome	.	.	0.22923	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4529	352946	5	176727058	GCCC	GCC,G	303412	Uncertain_significance	Sotos_syndrome|Weaver_syndrome	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4530	352994	5	176831184	C	G	299067	Likely_benign	Factor_XII_deficiency_disease|Hereditary_Angio...	.	0.00073	0.0004	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4531	256310	5	176831826	C	G	251869	Benign	Factor_XII_deficiency_disease|not_specified|He...	0.9769	.	0.9395	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4532	383778	5	177031348	T	C	368113	Benign	Ehlers-Danlos_syndrome_progeroid_type|not_spec...	0.63265	0.66084	0.66134	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4533	678008	5	177031602	C	G	661121	Benign	Ehlers-Danlos_syndrome_progeroid_type|not_prov...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4534	683273	5	177034786	T	C	661124	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4535	377547	5	177035964	T	C	369819	Benign	Ehlers-Danlos_syndrome_progeroid_type|not_spec...	0.57481	0.59031	0.60503	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4536	678450	5	177036043	A	G	661130	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4537	353009	5	177419356	C	T	299071	Likely_benign	Combined_Pituitary_Hormone_Deficiency,_Recessive	.	.	0.22664	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4538	196434	5	177419967	C	T	193595	Benign/Likely_benign	not_specified|Combined_Pituitary_Hormone_Defic...	0.23812	0.24498	0.20467	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4539	353016	5	177422823	C	T	303460	Benign	not_specified|Combined_Pituitary_Hormone_Defic...	0.5582	0.51135	0.50659	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4540	99647	5	178409856	C	T	105536	not_provided	not_provided	.	.	0.45587	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4541	99629	5	178413816	T	C	105518	not_provided	not_provided	0.5769	0.6064	0.54453	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4542	99628	5	178413947	T	C	105517	Benign	not_specified|not_provided	0.56843	0.5997	0.53554	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4543	99627	5	178415937	A	G	105516	Benign	not_specified|not_provided	0.49446	0.53283	0.50699	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4544	198105	5	178415982	A	G	195266	Benign	not_specified	0.98216	0.99519	0.98602	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4545	99626	5	178416063	G	A	105515	Benign	not_specified|not_provided	0.48824	0.52564	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4546	99625	5	178416288	G	A	105514	Benign	not_specified|not_provided	0.73766	0.72414	0.72165	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4547	93438	5	178421770	T	G	99345	Benign	not_specified|not_provided	0.63589	0.48906	0.55192	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4548	353048	5	178538472	G	A	299123	Benign	Ehlers-Danlos_syndrome_dermatosparaxis_type	.	.	0.34625	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4549	353064	5	178539400	T	C	303530	Benign	Ehlers-Danlos_syndrome_dermatosparaxis_type	.	.	0.80451	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4550	353073	5	178540026	A	G	299155	Benign	Ehlers-Danlos_syndrome_dermatosparaxis_type	.	.	0.52456	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4551	353080	5	178540656	T	G	303573	Benign	Ehlers-Danlos_syndrome_dermatosparaxis_type	.	.	0.52336	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4552	682706	5	178552715	G	A	660846	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4553	683136	5	178564499	C	T	661277	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4554	288085	5	178581797	C	T	272322	Benign	Ehlers-Danlos_syndrome_dermatosparaxis_type|no...	0.18067	0.31131	0.23123	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4555	288084	5	178581859	G	A	272321	Benign	Ehlers-Danlos_syndrome_dermatosparaxis_type|no...	0.18691	0.26705	0.22844	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4556	353129	5	178634547	G	A	297224	Benign/Likely_benign	Ehlers-Danlos_syndrome_dermatosparaxis_type|no...	0.17361	0.17224	0.13578	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4557	353130	5	178634619	C	T	303644	Benign	Ehlers-Danlos_syndrome_dermatosparaxis_type|no...	0.91527	0.92962	0.92452	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4558	353134	5	178634672	C	T	299197	Benign	Ehlers-Danlos_syndrome_dermatosparaxis_type|no...	0.32516	0.35542	0.43191	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4559	682686	5	178635005	C	T	661310	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4560	226018	5	179220638	A	C	227754	drug_response	aspirin_response_-_Toxicity/ADR	.	.	0.17013	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4561	259189	5	179260153	C	T	251873	Benign/Likely_benign	Paget_disease_of_bone|Paget_disease_of_bone_2,...	0.59719	0.62479	0.69369	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4562	259191	5	179260213	G	A	251875	Benign/Likely_benign	Paget_disease_of_bone|Paget_disease_of_bone_2,...	0.49846	0.61145	0.58726	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4563	353182	5	179264731	T	C	297272	Likely_benign	Paget_disease_of_bone	0.61979	0.62624	0.6879	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4564	353186	5	179264915	G	T	297284	Likely_benign	Paget_disease_of_bone	0.65017	0.63291	0.72284	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4565	263052	5	180036871	C	G	251885	Benign	not_specified	0.05567	.	0.08686	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4566	263044	5	180043388	G	A	251893	Benign	not_specified	0.25258	0.26997	0.24042	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4567	263036	5	180047863	C	G	251900	Benign	not_specified	0.95314	0.98759	0.96006	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4568	263033	5	180048035	T	C	251902	Benign	not_specified	0.05456	0.07643	0.09625	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4569	263034	5	180048056	C	T	251903	Benign	not_specified	0.24854	0.24225	0.24321	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4570	263022	5	180053090	G	A	251914	Benign	not_specified	0.03723	0.05222	0.08327	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4571	263021	5	180053097	C	T	251915	Benign	not_specified	0.04123	0.05322	0.08606	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4572	263020	5	180053307	A	G	251916	Benign	not_specified	0.93039	0.98111	0.94149	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4573	263072	5	180056044	G	A	251922	Benign	not_specified	0.2754	0.29964	0.21246	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4574	263070	5	180056863	C	T	251925	Benign	not_specified	0.04662	0.03371	0.03235	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4575	160346	6	396321	C	T	170189	Affects	Skin/hair/eye_pigmentation,_variation_in,_8	.	.	0.03674	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4576	769313	6	1313980	C	G	699313	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4577	193213	6	1611802	G	GGGC	190378	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4578	44132	6	2955802	T	C	53300	Benign	not_specified	0.22028	0.26445	0.21286	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4579	378835	6	3154871	A	C	368891	Benign/Likely_benign	not_specified|not_provided	0.4877	0.54875	0.40056	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4580	680824	6	3157354	C	G	661694	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4581	680632	6	5109945	C	T	662253	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4582	680628	6	5144189	T	C	661802	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4583	680627	6	5144192	C	T	662244	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4584	680630	6	5144667	C	T	662246	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4585	380035	6	5260936	A	C	370498	Benign	not_specified|not_provided	0.41426	0.35772	0.40296	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4586	676278	6	5261136	G	A	655746	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4587	676277	6	5261263	C	T	661805	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4588	676237	6	5261292	G	A	662250	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4589	680626	6	5261359	A	G	662252	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4590	680634	6	5261460	A	C	662254	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4591	137292	6	5431340	A	G	140995	Benign	Combined_oxidative_phosphorylation_deficiency_...	0.15216	.	0.23522	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4592	680564	6	5431571	G	A	661812	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4593	680572	6	5545816	A	G	662256	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4594	357650	6	6144857	C	A	300849	Likely_benign	Factor_XIII_subunit_A_deficiency	.	.	0.09345	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4595	357662	6	6145692	C	T	308466	Likely_benign	Factor_XIII_subunit_A_deficiency	.	.	0.14217	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4596	357663	6	6145726	A	G	308467	Likely_benign	Factor_XIII_subunit_A_deficiency	.	.	0.52336	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4597	255186	6	6152137	C	G	252445	Benign/Likely_benign	Factor_XIII_subunit_A_deficiency|not_specified	0.22174	0.2087	0.19389	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4598	255185	6	6152140	C	T	252446	Benign/Likely_benign	Factor_XIII_subunit_A_deficiency|not_specified	0.04952	0.06759	0.07228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4599	255183	6	6174866	G	A	252448	Conflicting_interpretations_of_pathogenicity	Factor_XIII_subunit_A_deficiency|not_specified...	0.19253	0.21596	0.24042	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4600	255182	6	6222249	T	C	252449	Benign	not_specified	0.01522	0.00916	0.00978	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4601	16532	6	6318795	C	A	31571	Conflicting_interpretations_of_pathogenicity	Factor_XIII_subunit_A_deficiency|Venous_thromb...	.	.	0.14776	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4602	357680	6	6320808	T	G	300863	Benign	Factor_XIII_subunit_A_deficiency	.	.	0.88199	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4603	683473	6	7541611	G	C	661960	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4604	668834	6	7555634	G	GTTTA	661964	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4605	683487	6	7555666	A	G	662338	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4606	137167	6	7558318	T	C	140870	Benign	not_specified	0.21598	0.19526	0.15615	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4607	672203	6	7563756	G	A	662354	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4608	44952	6	7563983	T	G	54119	Likely_benign	not_specified	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4609	678481	6	7566386	T	C	662389	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4610	672130	6	7566415	T	C	662321	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4611	259381	6	7567970	C	T	252531	Benign	not_specified|not_provided	0.78218	0.75864	0.77276	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4612	672132	6	7568354	G	T	662362	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4613	672133	6	7570963	A	G	662330	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4614	683475	6	7571327	G	T	662334	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4615	671015	6	7571874	G	A	662336	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4616	44870	6	7572262	A	G	54037	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.78587	0.76144	0.77436	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4617	672134	6	7574805	C	T	662341	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4618	672204	6	7576368	G	A	662393	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4619	44877	6	7576527	G	A	54044	Benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.74812	0.77179	0.73542	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4620	672205	6	7577079	G	A	662370	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4621	44886	6	7577260	C	T	54053	Benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.26884	0.24383	0.27516	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4622	672135	6	7577354	C	A	662345	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4623	683476	6	7577744	A	G	662347	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4624	678482	6	7578343	G	C	661994	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4625	259383	6	7578819	T	G	252533	Benign	not_specified|not_provided	0.75342	0.77316	0.74002	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4626	259384	6	7578823	G	A	252534	Benign	not_specified|not_provided	0.77833	0.77988	0.76438	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4627	672137	6	7578970	C	T	662353	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4628	672138	6	7579311	G	T	662000	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4629	672149	6	7579363	A	T	662355	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4630	44925	6	7581636	G	A	54092	Benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.19414	0.17241	0.24042	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4631	44947	6	7584617	C	T	54114	Benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.30225	0.28806	0.21166	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4632	44967	6	7585967	G	C	54134	Benign	Cardiomyopathy|Arrhythmogenic_right_ventricula...	0.68807	0.71167	0.70947	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4633	357973	6	7586308	C	T	304041	Benign	Arrhythmogenic_right_ventricular_cardiomyopath...	.	.	0.27356	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4634	357974	6	7586386	TCTC	T	308774	Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopath...	.	.	0.00919	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4635	369512	6	10882100	G	A	353741	Benign	Hypoparathyroidism_familial_isolated	.	.	0.98562	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4636	402937	6	12124587	C	G	389713	Benign	not_specified	0.30836	0.31989	0.248	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4637	16652	6	12296255	G	T	31691	Benign	High_density_lipoprotein_cholesterol_level_qua...	.	0.23446	0.2474	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4638	262012	6	15593240	T	C	252214	Benign	not_specified	0.79223	.	0.88838	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4639	262009	6	15663118	T	C	252217	Benign	Hermansky-Pudlak_syndrome|not_specified	0.18294	0.17743	0.11382	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4640	15961	6	16290761	T	A	31000	Benign	GMP_REDUCTASE_POLYMORPHISM	.	0.5444	0.70627	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4641	128505	6	16327615	A	G	133954	Likely_benign	not_specified	0.70729	.	0.78015	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4642	682615	6	24175124	T	C	662024	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4643	516888	6	24291203	T	C	501923	Benign	not_specified	0.48247	0.63927	0.51697	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4644	128343	6	24503590	C	T	133792	Benign	Succinate-semialdehyde_dehydrogenase_deficienc...	0.37121	0.3195	0.3147	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4645	356135	6	24505221	G	A	302268	Benign	Succinate-semialdehyde_dehydrogenase_deficiency	0.2608	0.22413	0.19269	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4646	356145	6	24534193	C	A	299675	Benign	Succinate-semialdehyde_dehydrogenase_deficiency	.	.	0.38059	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4647	356175	6	24535780	G	A	306974	Benign	Succinate-semialdehyde_dehydrogenase_deficiency	.	.	0.26797	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4648	517548	6	24806594	C	T	496515	Benign	not_specified	0.46277	0.46084	0.35783	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4649	517553	6	24809936	A	T	496900	Benign	not_specified	0.12133	0.13135	0.09904	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4650	499652	6	24825511	A	G	491076	Benign	not_specified	0.73785	0.80783	0.75399	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4651	508154	6	24828490	C	T	496434	Benign	not_specified	0.24091	0.19846	0.22684	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4652	129225	6	26091336	T	C	134671	Benign/Likely_benign	Hereditary_hemochromatosis|not_specified|not_p...	0.34584	0.3686	0.42672	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4653	162166	6	30774357	G	A	171879	not_provided	not_provided	.	.	0.76578	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4654	380148	6	30882203	T	C	369052	Benign	not_specified|not_provided	.	0.6417	0.62979	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4655	380149	6	30882634	C	T	369054	Benign	not_specified|not_provided	0.29346	0.3215	0.22205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4656	380150	6	30882781	G	T	368843	Benign	not_specified|not_provided	0.29438	.	0.22205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4657	380151	6	30883920	C	T	368851	Benign	not_specified|not_provided	0.29302	0.32031	0.22205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4658	669590	6	30884436	A	G	662185	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4659	669591	6	30885821	G	A	662048	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4660	669592	6	30886350	C	G	662187	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4661	669593	6	30887311	C	T	661678	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4662	669594	6	30887344	T	C	662051	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4663	676450	6	30887780	C	CTGGGGCGGTGCAGGTGA	661680	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4664	380153	6	30887988	C	T	369066	Benign	not_specified|not_provided	0.29443	0.32468	0.22205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4665	380154	6	30888161	T	C	370328	Benign	Combined_oxidative_phosphorylation_deficiency_...	0.48316	0.60105	0.61621	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4666	380155	6	30888169	G	A	370350	Benign	not_specified|not_provided	0.29302	0.31965	0.22224	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4667	380157	6	30890483	G	T	369077	Benign	Combined_oxidative_phosphorylation_deficiency_...	0.294	0.32402	0.22205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4668	380158	6	30890569	G	T	368868	Benign	not_specified	0.29424	.	0.22205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4669	380159	6	30890871	T	C	368876	Benign	not_specified|not_provided	0.48068	0.60564	0.61582	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4670	380160	6	30892322	C	T	368601	Benign	not_specified|not_provided	0.29551	0.34455	0.22205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4671	684325	6	30892521	G	A	662148	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4672	669595	6	30892592	G	C	662056	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4673	380162	6	30893428	G	A	368602	Benign	not_specified|not_provided	0.28935	0.32948	0.22304	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4674	380163	6	30893728	C	T	369083	Benign	not_specified|not_provided	0.65304	0.75301	0.70787	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4675	14907	6	31274380	T	C	29946	risk_factor	HIV-1_viremia,_susceptibility_to	.	.	0.36761	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4676	403084	6	31379817	T	C	389723	Benign	not_specified	.	0.48356	0.58247	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4677	403085	6	31379931	G	A	389660	Benign	not_specified	.	0.49998	0.58327	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4678	12389	6	31542482	C	T	27428	risk_factor	Alzheimer_disease,_susceptibility_to|Vascular_...	.	.	0.09904	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4679	356272	6	31914935	A	G	302401	Benign	Macular_degeneration|Atypical_hemolytic_uremic...	0.86363	0.83055	0.85543	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4680	356318	6	31929014	A	C	307147	Benign	Trichohepatoenteric_syndrome|not_specified	0.77395	0.76995	0.81669	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4681	356345	6	31936668	T	C	302482	Benign	Trichohepatoenteric_syndrome|not_specified	0.78278	0.78261	0.83966	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4682	256286	6	32006317	C	T	252221	Benign	not_specified	.	0.78912	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4683	65608	6	32006886	G	A	76516	Benign	Classic_congenital_adrenal_hyperplasia_due_to_...	0.2315	0.33408	0.21486	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4684	261115	6	32011204	G	C	252249	Benign	not_specified	.	0.47783	0.46186	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4685	261173	6	32020512	T	C	252278	Benign	not_specified	0.01732	0.0228	0.00659	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4686	261162	6	32026107	C	T	252289	Benign	Ehlers-Danlos-like_syndrome_due_to_tenascin-X_...	0.68561	0.71922	0.69609	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4687	261159	6	32029226	A	G	252292	Benign	not_specified	0.63497	0.69068	0.63998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4688	261156	6	32029415	T	C	252295	Benign	not_specified	.	0.60082	0.59864	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4689	261152	6	32030284	G	A	252299	Benign	not_specified	.	0.37912	0.21845	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4690	261150	6	32032743	G	A	252301	Benign	not_specified	0.35846	0.4401	0.39876	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4691	261136	6	32050067	T	C	252312	Benign	not_specified	0.47712	.	0.58626	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4692	95242	6	32945530	G	C	101141	Benign	not_specified	0.94048	.	0.97983	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4693	46568	6	33131501	G	A	55733	Benign/Likely_benign	Otospondylomegaepiphyseal_dysplasia,_autosomal...	0.01743	0.01934	0.00679	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4694	674800	6	33132338	G	A	661705	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4695	674799	6	33134392	C	A	661712	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4696	674781	6	33136575	C	T	662156	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4697	674780	6	33136638	G	A	661724	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4698	674779	6	33137727	C	T	662194	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4699	674777	6	33138746	CA	C	662075	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4700	46566	6	33138955	G	A	55731	Benign	Otospondylomegaepiphyseal_dysplasia,_autosomal...	0.72193	0.75628	0.80531	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4701	46564	6	33139475	T	G	55729	Benign	Otospondylomegaepiphyseal_dysplasia,_autosomal...	0.77331	0.78675	0.86941	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4702	674776	6	33139662	A	G	662077	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4703	674775	6	33140009	T	G	662079	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4704	674774	6	33140983	A	G	661743	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4705	46562	6	33141161	A	G	55727	Benign	Otospondylomegaepiphyseal_dysplasia,_autosomal...	0.77844	0.78709	0.8782	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4706	262310	6	33141253	T	G	252332	Benign	not_specified|not_provided	0.53499	.	0.64517	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4707	674772	6	33141389	C	T	662088	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4708	46560	6	33141475	C	T	55725	Benign	Otospondylomegaepiphyseal_dysplasia,_autosomal...	0.56883	0.60065	0.64317	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4709	262309	6	33141920	G	C	252333	Benign	not_specified|not_provided	0.7679	0.78233	0.86921	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4710	674770	6	33142253	C	G	662162	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4711	674768	6	33143948	C	G	662101	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4712	46558	6	33144243	T	A	55723	Benign	Otospondylomegaepiphyseal_dysplasia,_autosomal...	0.43837	0.47882	0.54713	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4713	46555	6	33147589	T	G	55720	Benign	Otospondylomegaepiphyseal_dysplasia,_autosomal...	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4714	675092	6	33152865	G	A	661751	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4715	403518	6	33272855	G	C	389769	Benign	Bare_lymphocyte_syndrome_type_1|not_specified	0.60764	0.56815	0.59125	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4716	403519	6	33283766	T	C	389749	Benign	not_specified	0.54675	0.54652	0.53434	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4717	130526	6	33408680	G	A	135972	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.10088	0.10467	0.05012	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4718	669588	6	33667965	G	T	662170	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4719	669587	6	33679061	A	G	662117	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4720	671160	6	33679807	A	G	661775	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4721	356425	6	34393591	T	G	306941	Benign	Diamond-Blackfan_anemia	.	.	0.9976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4722	356434	6	34393866	G	A	302561	Benign	Diamond-Blackfan_anemia	.	.	0.07009	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4723	708924	6	35201057	A	G	722010	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4724	261434	6	35423489	A	G	252336	Benign	not_specified	0.73412	0.72009	0.77656	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4725	261435	6	35423662	A	C	252337	Benign	Fanconi_anemia|not_specified|not_provided	0.73566	.	0.77796	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4726	261436	6	35425416	A	G	252338	Benign	not_specified	0.41204	0.49656	0.35963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4727	94127	6	35477025	C	G	100027	Benign	Leber_congenital_amaurosis|Leber_congenital_am...	0.84223	0.82147	0.83846	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4728	286865	6	35479574	G	C	271102	Benign	Leber_congenital_amaurosis|not_specified|Retin...	0.89984	.	0.8744	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4729	226001	6	35669983	A	G	227758	drug_response	antidepressants_response_-_Efficacy|citalopram...	.	.	0.77796	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4730	402546	6	35764570	G	A	389770	Benign	not_specified	.	0.17045	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4731	356545	6	35791302	G	C	302686	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	0.29373	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4732	356546	6	35791408	A	AG	307044	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4733	356552	6	35791635	AT	A	300016	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4734	257572	6	36260858	C	T	252342	Benign	Congenital_ichthyosiform_erythroderma|not_spec...	0.43242	0.37537	0.41833	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4735	257570	6	36274153	C	T	252345	Benign	Congenital_ichthyosiform_erythroderma|not_spec...	0.29717	0.26315	0.24042	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4736	257571	6	36275458	T	C	252346	Benign	Congenital_ichthyosiform_erythroderma|not_spec...	0.66085	0.64017	0.64836	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4737	789885	6	37186693	C	T	710492	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4738	414389	6	38757615	G	A	395757	Benign	Primary_ciliary_dyskinesia	0.02837	0.02501	0.02097	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4739	257631	6	38771096	T	C	252347	Benign	not_specified	0.14432	0.15025	0.08147	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4740	257626	6	38885010	TA	T	252348	Benign	not_specified	0.51821	0.43897	0.49321	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4741	402771	6	38905957	C	T	389763	Benign/Likely_benign	not_specified|not_provided	0.00823	0.00511	0.00419	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4742	257628	6	38957771	T	C	252350	Benign	not_specified	0.40827	0.40029	0.32847	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4743	257629	6	38957853	A	G	252351	Benign	not_specified	0.40835	0.39428	0.32867	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4744	356672	6	39895410	T	C	302841	Benign	Combined_molybdoflavoprotein_enzyme_deficiency	.	.	0.6234	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4745	356684	6	42123317	A	C	307228	Likely_benign	Cone/cone-rod_dystrophy	.	0.69096	0.66773	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4746	356736	6	42162388	A	G	307298	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.51384	0.63747	0.58486	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4747	501953	6	42162575	A	G	493377	Benign	not_specified	0.86053	0.85038	0.87899	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4748	356749	6	42664658	G	A	302880	Likely_benign	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	.	.	0.7514	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4749	356750	6	42664676	G	A	307353	Likely_benign	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	.	.	0.75439	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4750	356756	6	42665032	G	T	307355	Likely_benign	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	.	.	0.21446	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4751	356759	6	42665135	G	T	302916	Likely_benign	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	.	.	0.21446	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4752	356762	6	42665271	G	A	300161	Likely_benign	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	.	.	0.75439	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4753	356764	6	42665490	C	T	302934	Likely_benign	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	.	.	0.75459	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4754	356765	6	42665548	T	TAA	307361	Uncertain_significance	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4755	138906	6	42666061	T	C	142609	Benign/Likely_benign	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	0.7768	0.77898	0.75739	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4756	138905	6	42666145	C	T	142608	Benign/Likely_benign	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	0.93072	0.91168	0.94129	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4757	138904	6	42666164	G	C	142607	Benign/Likely_benign	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	0.7768	0.7774	0.75659	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4758	255827	6	42666293	G	A	252355	Benign	not_specified	0.23282	0.21914	0.21206	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4759	92846	6	42689755	A	G	98753	Benign/Likely_benign	Pigmentary_retinal_dystrophy|Choroidal_Dystrop...	0.6068	0.57747	0.58447	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4760	356786	6	42931627	GTTTA	G	300174	Benign	PEX6_POLYMORPHISM|Peroxisome_biogenesis_disord...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4761	92781	6	42934500	C	T	98688	Benign	not_specified|not_provided	0.5978	0.49102	0.49381	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4762	559074	6	42934620	C	T	549606	Benign	not_provided	0.5978	0.49104	0.49401	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4763	559075	6	42935998	G	A	549607	Benign	not_provided	0.59912	0.49045	0.4976	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4764	92791	6	42942779	A	G	98698	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	0.37667	0.37763	0.28974	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4765	92789	6	42946490	C	A	98696	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	0.37541	0.44935	0.33187	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4766	356808	6	42946943	G	A	300204	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	.	.	0.33387	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4767	260435	6	43014298	TT	CC	252368	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4768	12223	6	43738350	C	G	27262	risk_factor	Microvascular_complications_of_diabetes_1	.	.	0.67392	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4769	162168	6	43826627	C	T	171881	not_provided	not_provided	.	.	0.67392	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4770	357026	6	44266648	C	CTT	307681	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4771	357032	6	44266925	T	C	307832	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.86941	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4772	357033	6	44266984	G	A	300337	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.20647	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4773	357035	6	44266999	CT	C	300339	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4774	357043	6	44267650	T	TAGGGCACCCATACC	307865	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4775	357044	6	44267728	A	ATTTAT	307869	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4776	357045	6	44267861	C	T	307686	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.86761	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4777	357048	6	44267918	A	G	303155	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.86941	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4778	357050	6	44267943	C	T	307870	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.86941	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4779	357055	6	44268371	T	C	303162	Benign	Combined_oxidative_phosphorylation_deficiency|...	0.87114	0.9426	0.86941	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4780	357059	6	44269193	C	T	300361	Benign	Combined_oxidative_phosphorylation_deficiency_...	0.67899	0.7015	0.58267	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4781	682696	6	44269640	G	A	661779	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4782	682694	6	44271661	G	A	662242	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4783	672773	6	44273702	C	A	661782	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4784	682693	6	44274451	G	A	662137	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4785	669454	6	44280281	T	C	662150	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4786	506168	6	45870999	CAG	C	496577	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4787	508561	6	46047458	C	T	496472	Benign	not_specified	.	0.23455	0.19629	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4788	508092	6	46047640	T	C	496912	Benign	not_specified|not_provided	0.04446	0.04663	0.03614	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4789	508560	6	46048000	T	C	502010	Benign	not_specified	.	0.2498	0.22125	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4790	7916	6	46672943	A	G	22955	risk_factor	Asthma_and_atopy,_susceptibility_to|not_provided	.	0.80334	0.8103	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4791	56163	6	46684222	C	T	70802	not_provided	not_provided	0.26649	0.30326	0.31749	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4792	357156	6	47445784	C	T	307805	Uncertain_significance	Focal_segmental_glomerulosclerosis	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4793	357157	6	47445789	A	C	300455	Benign	Focal_segmental_glomerulosclerosis	.	.	0.60623	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4794	357162	6	47445927	T	A	307991	Benign	Focal_segmental_glomerulosclerosis	0.96713	.	0.95268	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4795	260181	6	47563692	C	T	252387	Benign	Focal_segmental_glomerulosclerosis|Focal_segme...	0.9757	0.99415	0.98303	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4796	260183	6	47567017	G	A	252388	Benign	not_specified	0.03099	0.0116	0.04054	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4797	357183	6	47592328	GT	G	300480	Benign	Focal_segmental_glomerulosclerosis	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4798	357222	6	47594002	T	C	308038	Benign	Focal_segmental_glomerulosclerosis	.	.	0.53035	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4799	357225	6	47594183	A	AT	307895	Benign	Focal_segmental_glomerulosclerosis	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4800	357228	6	47594302	T	C	300504	Benign	Focal_segmental_glomerulosclerosis	.	.	0.94109	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4801	357235	6	49398115	C	T	300512	Benign	Methylmalonic_acidemia	.	.	0.32927	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4802	357290	6	50811241	T	A	303422	Benign	Char_syndrome	.	.	0.86322	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4803	357303	6	50812015	AAC	A	308011	Conflicting_interpretations_of_pathogenicity	Char_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4804	357319	6	50812906	G	A	308018	Benign	Char_syndrome	.	.	0.73602	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4805	357329	6	50813332	T	C	308129	Benign	Char_syndrome	.	.	0.9393	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4806	357358	6	51480486	G	T	308144	Benign	Autosomal_recessive_polycystic_kidney_disease	.	.	0.6867	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4807	357362	6	51480853	T	C	308048	Benign	Autosomal_recessive_polycystic_kidney_disease	.	.	0.75479	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4808	357368	6	51481315	T	C	308051	Benign	Autosomal_recessive_polycystic_kidney_disease	.	.	0.88339	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4809	357398	6	51483505	A	G	308176	Benign	Autosomal_recessive_polycystic_kidney_disease	.	.	0.99681	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4810	96376	6	51483961	T	C	102270	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.52583	0.56297	0.56569	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4811	96372	6	51491884	T	C	102266	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.52361	0.55504	0.55332	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4812	96441	6	51613177	C	T	102335	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.27403	0.40414	0.38598	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4813	96438	6	51618170	T	G	102332	Benign	not_specified	.	0.74163	0.85943	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4814	262421	6	51640751	C	G	252407	Benign	not_specified	0.30106	0.43375	0.40016	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4815	96429	6	51695647	A	T	102323	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.49362	0.38611	0.36761	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4816	96423	6	51720838	T	C	102317	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.35461	0.4339	0.53894	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4817	96422	6	51720872	A	G	102316	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.34546	0.43417	0.53974	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4818	262412	6	51732628	G	A	252416	Benign	not_specified	0.35453	0.43452	0.53874	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4819	96421	6	51732807	C	T	102315	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.53545	.	0.36761	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4820	262411	6	51735261	G	T	252417	Benign	not_specified	0.35338	.	0.53774	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4821	262406	6	51799166	T	C	252422	Benign	not_specified	0.67984	0.7015	0.77436	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4822	96410	6	51875250	A	C	102304	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.95387	0.98719	0.95587	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4823	96399	6	51890823	G	A	102293	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.39236	0.46976	0.35463	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4824	262399	6	51891011	T	C	252426	Benign	not_specified	0.45392	.	0.41194	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4825	262396	6	51913240	G	A	252429	Benign	not_specified	0.38874	0.46495	0.35563	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4826	96386	6	51914956	G	A	102280	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.38867	0.46521	0.35583	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4827	96374	6	51924774	A	G	102268	Benign	Autosomal_recessive_polycystic_kidney_disease|...	0.95917	0.9883	0.95827	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4828	96407	6	51938242	A	G	102301	Benign	not_specified	0.27211	0.27663	0.32987	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4829	96388	6	51947237	G	A	102282	Benign/Likely_benign	Autosomal_recessive_polycystic_kidney_disease|...	0.29571	0.28441	0.35443	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4830	128968	6	52303291	C	T	134415	Benign/Likely_benign	Juvenile_myoclonic_epilepsy|not_specified	0.10034	.	0.06889	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4831	2063	6	52303361	G	A	17102	Benign	Myoclonic_epilepsy,_juvenile_1|Juvenile_myoclo...	.	0.06051	0.04433	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4832	357489	6	52357260	C	A	300714	Benign	Juvenile_myoclonic_epilepsy	.	0.89467	0.89996	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4833	357498	6	52358020	A	T	308225	Likely_benign	Juvenile_myoclonic_epilepsy	.	0.90195	0.93311	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4834	357512	6	52358319	G	A	300722	Benign	Juvenile_myoclonic_epilepsy	.	0.89449	0.89996	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4835	357517	6	52358887	T	TCA	308241	Benign	Juvenile_myoclonic_epilepsy	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4836	357523	6	52359558	A	G	303678	Likely_benign	Juvenile_myoclonic_epilepsy	.	0.18641	0.12999	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4837	357527	6	52360283	T	A	308245	Likely_benign	Juvenile_myoclonic_epilepsy	.	0.65463	0.69908	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4838	357529	6	52360545	T	C	300752	Likely_benign	Juvenile_myoclonic_epilepsy	.	0.44915	0.27935	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4839	218139	6	53134104	C	CACAG	214787	not_provided	not_provided	0.60233	0.50352	0.59804	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4840	439753	6	53410037	G	A	433587	Benign	not_specified	.	.	0.06909	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4841	768101	6	55142261	G	A	699626	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4842	795681	6	56351973	G	A	787557	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4843	518378	6	56426931	C	T	508818	Benign	Neuropathy,_hereditary_sensory_and_autonomic,_...	0.38594	0.40605	0.33526	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4844	518379	6	56463410	T	C	508819	Benign	Neuropathy,_hereditary_sensory_and_autonomic,_...	0.38105	0.35621	0.32828	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4845	357539	6	56480052	T	TAA	308257	Benign	Neuropathy,_hereditary_sensory_and_autonomic,_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4846	357558	6	56482801	C	G	303702	Benign	Neuropathy,_hereditary_sensory_and_autonomic,_...	0.46925	0.38866	0.40176	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4847	357579	6	56484758	C	T	300790	Benign	Neuropathy,_hereditary_sensory_and_autonomic,_...	0.42304	0.36096	0.33646	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4848	357616	6	56505081	G	C	308408	Conflicting_interpretations_of_pathogenicity	Neuropathy,_hereditary_sensory_and_autonomic,_...	0.00177	0.0033	0.003	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4849	93620	6	64694354	C	T	99524	Benign/Likely_benign	Retinitis_pigmentosa_25|not_specified|Retiniti...	0.36115	0.36324	0.34964	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4850	196616	6	65016977	TGA	T	193777	Benign	Retinitis_pigmentosa_25|not_specified|Retiniti...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4851	137256	6	65149185	T	A	140959	Benign/Likely_benign	Retinitis_pigmentosa_25|not_specified|Retiniti...	.	0.28638	0.29133	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4852	195937	6	65300250	C	G	193098	Conflicting_interpretations_of_pathogenicity	Retinitis_pigmentosa|Retinitis_pigmentosa_25|n...	0.00241	0.00486	0.001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4853	93611	6	65301504	A	G	99515	Benign	Retinitis_pigmentosa_25|not_specified|Retiniti...	0.77442	0.74697	0.78155	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4854	137272	6	65612302	A	G	140975	Conflicting_interpretations_of_pathogenicity	Retinitis_pigmentosa_25|not_specified|Retiniti...	0.02146	0.03587	0.01617	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4855	93605	6	65622463	A	G	99509	Benign	Retinitis_pigmentosa_25|not_specified|Retiniti...	0.66711	0.61068	0.64637	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4856	137268	6	66005857	T	A	140971	Benign/Likely_benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.17083	0.16152	0.10423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4857	137263	6	66063513	G	A	140966	Benign/Likely_benign	Retinitis_pigmentosa_25|not_specified|Retiniti...	0.68146	0.67463	0.65116	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4858	137262	6	66112409	A	G	140965	Benign/Likely_benign	Retinitis_pigmentosa_25|not_specified|Retiniti...	0.52821	0.51649	0.50599	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4859	137261	6	66204945	G	A	140964	Benign/Likely_benign	Retinitis_pigmentosa_25|not_specified|Retiniti...	0.16062	.	0.17033	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4860	137260	6	66204970	C	T	140963	Benign/Likely_benign	Retinitis_pigmentosa_25|not_specified|not_prov...	0.00408	.	0.00859	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4861	357765	6	70385709	G	A	303862	Benign	Disorders_of_Intracellular_Cobalamin_Metabolism	.	.	0.64597	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4862	357791	6	70926334	A	G	308545	Benign	Multiple_Epiphyseal_Dysplasia,_Dominant|Stickl...	.	.	0.39577	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4863	258357	6	70944465	A	G	252455	Benign	not_specified	0.38482	0.38134	0.21865	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4864	677932	6	70961745	A	G	662196	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4865	258353	6	70961833	T	C	252459	Benign	Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp...	0.39151	0.37526	0.32668	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4866	258351	6	70962039	C	T	252460	Benign	not_specified|not_provided	0.18868	.	0.17332	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4867	258352	6	70962044	A	G	252461	Benign	not_specified	0.50023	0.44845	0.40336	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4868	677930	6	70962219	G	A	662260	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4869	258350	6	70963156	T	G	252462	Benign	not_specified	0.43688	.	0.36921	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4870	258344	6	70965125	A	C	252467	Benign	not_specified	0.83723	.	0.8752	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4871	683421	6	70966173	A	G	661848	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4872	683417	6	70966794	G	A	662291	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4873	677940	6	70970501	A	G	661850	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4874	677939	6	70972708	T	C	661854	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4875	678734	6	70973152	A	C	662262	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4876	677938	6	70973200	A	T	662200	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4877	677937	6	70976303	A	T	662306	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4878	677936	6	70976661	T	G	661862	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4879	677935	6	70978397	T	C	661876	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4880	260500	6	72889472	A	G	252483	Benign	not_specified|Cone-Rod_Dystrophy,_Dominant|not...	0.69112	.	0.7518	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4881	95655	6	72892257	A	G	101552	Benign	not_specified|Cone-Rod_Dystrophy,_Dominant|not...	0.97435	0.99227	0.97464	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4882	677182	6	72945492	C	T	662301	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4883	677183	6	72968609	C	T	662302	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4884	260498	6	73102442	C	T	252489	Benign	not_specified|Cone-Rod_Dystrophy,_Dominant|not...	0.21349	0.21242	0.15875	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4885	357862	6	73102522	AT	A	308639	Benign	Cone-Rod_Dystrophy,_Dominant	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4886	357878	6	73111454	A	G	303974	Benign	Cone-Rod_Dystrophy,_Dominant	.	.	0.44329	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4887	357879	6	73111492	A	G	303981	Likely_benign	Cone-Rod_Dystrophy,_Dominant	.	.	0.11202	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4888	357882	6	73111857	T	TA	303985	Benign	Cone-Rod_Dystrophy,_Dominant	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4889	357890	6	73112380	C	A	301012	Likely_benign	Cone-Rod_Dystrophy,_Dominant	.	.	0.12001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4890	138273	6	74189574	G	A	141976	Benign	not_specified	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4891	138274	6	74190448	T	C	141977	Benign	not_specified|not_provided	0.20621	0.18713	0.20807	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4892	678137	6	74191545	G	A	662304	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4893	671625	6	74192422	T	G	662307	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4894	682640	6	74201676	A	T	662350	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4895	671626	6	74202160	A	C	662272	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4896	678514	6	74202273	T	C	662356	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4897	357907	6	74303829	C	T	308706	Benign	Salla_disease	.	.	0.30092	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4898	357917	6	74304415	G	C	308717	Benign	Salla_disease	.	.	0.17252	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4899	357919	6	74304607	T	C	301029	Likely_benign	Salla_disease	.	.	0.06829	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4900	672112	6	74309812	C	T	661914	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4901	672111	6	74320391	T	A	662283	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4902	672110	6	74324806	G	A	662325	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4903	672021	6	74324901	T	C	661917	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4904	672109	6	74325257	T	C	662327	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4905	672093	6	74325403	C	T	662329	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4906	357925	6	74348142	T	C	301037	Benign	Salla_disease|not_provided	0.04513	0.07939	0.0655	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4907	558969	6	74351669	A	G	549614	Benign	not_provided	0.0449	0.07837	0.0655	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4908	259341	6	75841722	A	T	252506	Benign	not_specified	0.88226	0.88335	0.88618	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4909	259338	6	75844458	C	T	252509	Benign	not_specified|not_provided	0.00975	0.0073	0.00419	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4910	45147	6	76596728	C	T	54314	Benign	not_specified|not_provided	0.24127	0.25117	0.14776	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4911	45130	6	76624741	C	T	54297	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Domin...	0.24097	0.28782	0.14697	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4912	358027	6	76626756	T	C	308845	Likely_benign	Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom...	.	.	0.31889	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4913	358034	6	76627600	GT	G	301090	Benign	Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4914	358049	6	76628564	C	T	304111	Benign	Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom...	.	.	0.55052	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4915	358056	6	76628843	T	A	301102	Benign	Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom...	.	.	0.77716	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4916	358085	6	80196498	T	C	308889	Likely_benign	Leber_congenital_amaurosis	.	.	0.5647	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4917	167255	6	80196848	C	T	177374	Benign/Likely_benign	Leber_congenital_amaurosis|Leber_congenital_am...	0.37842	0.31671	0.35523	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4918	167258	6	80228541	A	G	177112	Benign	Leber_congenital_amaurosis|Leber_congenital_am...	0.837	0.83459	0.89058	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4919	358109	6	80228673	T	C	308913	Benign	Leber_congenital_amaurosis	.	.	0.89038	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4920	358150	6	80657086	C	G	301166	Likely_benign	Stargardt_Disease,_Dominant	.	.	0.08726	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4921	683382	6	80837058	A	G	662388	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4922	96573	6	80837239	A	G	102466	Benign	not_specified	0.32301	0.44378	0.38778	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4923	96572	6	80837253	G	T	102465	Benign	Maple_syrup_urine_disease|not_specified	.	.	0.51837	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4924	683389	6	80881289	C	G	662411	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4925	96613	6	80912746	C	T	102506	Benign	not_specified	.	.	0.69629	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4926	683390	6	80913216	A	G	662414	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4927	683392	6	81053107	G	A	662417	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4928	683394	6	81053217	G	T	662386	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4929	358174	6	81053642	G	A	304288	Benign	Maple_syrup_urine_disease	.	.	0.71506	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4930	358176	6	81053814	T	C	304289	Benign	Maple_syrup_urine_disease	.	.	0.71546	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4931	358177	6	81053825	G	A	304303	Benign	Maple_syrup_urine_disease	.	.	0.71586	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4932	358178	6	81053866	C	T	301182	Benign	Maple_syrup_urine_disease	.	.	0.58986	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4933	358179	6	81053916	G	T	309048	Benign	Maple_syrup_urine_disease	.	.	0.95847	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4934	358185	6	81054148	T	C	309049	Benign	Maple_syrup_urine_disease	.	.	0.71526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4935	358188	6	81054252	C	T	301194	Benign	Maple_syrup_urine_disease	.	.	0.39976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4936	358190	6	81054310	C	T	309050	Benign	Maple_syrup_urine_disease	.	.	0.71546	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4937	358191	6	81054326	T	C	309058	Benign	Maple_syrup_urine_disease	.	.	0.71546	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4938	358196	6	81054515	G	A	304336	Benign	Maple_syrup_urine_disease	.	.	0.71526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4939	358198	6	81054663	C	G	301200	Benign	Maple_syrup_urine_disease	.	.	0.6887	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4940	358202	6	81054762	A	G	301205	Benign	Maple_syrup_urine_disease	.	.	0.71526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4941	358204	6	81054965	T	C	301207	Benign	Maple_syrup_urine_disease	.	.	0.71526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4942	358206	6	81055299	A	G	309086	Benign	Maple_syrup_urine_disease	.	.	0.71486	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4943	358208	6	81055331	T	C	309088	Benign	Maple_syrup_urine_disease	.	.	0.71526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4944	358209	6	81055396	G	A	309090	Benign	Maple_syrup_urine_disease	.	.	0.71526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4945	358210	6	81055413	T	C	304346	Benign	Maple_syrup_urine_disease	.	.	0.71526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4946	358212	6	81055792	G	A	304347	Benign	Maple_syrup_urine_disease	.	.	0.71586	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4947	358213	6	81055803	C	T	304349	Benign	Maple_syrup_urine_disease	.	.	0.71566	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4948	681218	6	83880167	C	T	655752	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4949	672119	6	83881740	T	C	655753	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4950	802247	6	85473758	C	T	790663	Benign	Multicystic_renal_dysplasia,_bilateral	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4951	95391	6	88182704	G	C	101290	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.67411	.	0.64597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4952	4843	6	88218600	C	CCACT	19882	risk_factor	CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIf...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4953	358221	6	88221546	A	G	304359	Benign	Congenital_disorder_of_glycosylation|Pontoneoc...	.	.	0.63918	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4954	358228	6	88221892	T	G	301220	Benign	Congenital_disorder_of_glycosylation|Pontoneoc...	.	.	0.63858	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4955	671612	6	88226641	A	G	662427	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4956	683650	6	88244648	C	T	662396	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4957	683649	6	88244770	T	TTCTTA	662019	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4958	671595	6	88255438	T	C	662404	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4959	358264	6	97338598	A	T	304408	Benign	Mitochondrial_complex_I_deficiency	.	.	0.93411	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4960	358266	6	97338648	T	A	309128	Likely_benign	Mitochondrial_complex_I_deficiency	.	.	0.29133	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4961	129692	6	97339088	C	T	135138	Benign	Mitochondrial_complex_I_deficiency|not_specifi...	0.89217	0.89442	0.93391	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4962	358272	6	97339275	C	CA	309036	Benign/Likely_benign	Mitochondrial_complex_I_deficiency|not_specifi...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4963	677882	6	97345054	G	C	662440	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4964	681227	6	97345233	G	A	662041	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4965	354670	6	100837889	T	A	305273	Benign	Schaaf-yang_syndrome	.	.	0.39876	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4966	354672	6	100838124	T	A	305275	Likely_benign	Schaaf-yang_syndrome	.	.	0.01218	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4967	418019	6	101215223	TA	T	406785	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4968	129169	6	102247673	T	C	134615	Likely_benign	not_specified	0.2392	0.2537	0.41514	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4969	354761	6	107475278	T	TA	305215	Likely_benign	Coenzyme_Q10_deficiency,_primary	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4970	683453	6	107533160	T	G	661460	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4971	683452	6	107655119	A	G	661389	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4972	674100	6	107781028	G	A	661498	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4973	130361	6	107956095	A	G	135808	Benign	not_specified	.	0.98878	0.97963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4974	354812	6	108189328	C	T	298570	Benign	Polycystic_liver_disease_1	.	.	0.92951	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4975	354813	6	108189333	T	TGTC	305479	Benign	Polycystic_liver_disease_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4976	354821	6	108189427	TA	T	305322	Benign	Polycystic_liver_disease_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4977	354825	6	108189477	T	G	298582	Benign	Polycystic_liver_disease_1	.	.	0.92871	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4978	354826	6	108189515	G	A	305329	Benign	Polycystic_liver_disease_1	.	.	0.92452	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4979	354842	6	108190246	C	T	300935	Benign	Polycystic_liver_disease_1	.	.	0.86262	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4980	354859	6	108190976	GTTTTTT	G,GT	305401	Benign	Polycystic_liver_disease_1	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4981	354861	6	108191007	T	C	305408	Benign	Polycystic_liver_disease_1	.	.	0.75579	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4982	354863	6	108191114	AAAAC	A	300960	Benign	Polycystic_liver_disease_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4983	354865	6	108191203	C	T	305512	Benign	Polycystic_liver_disease_1	.	.	0.96905	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4984	354868	6	108191382	A	G	305515	Benign	Polycystic_liver_disease_1	.	.	0.86242	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4985	354871	6	108191510	T	G	305516	Benign	Polycystic_liver_disease_1	.	.	0.86302	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4986	354888	6	108192785	A	T	305541	Benign	Polycystic_liver_disease_1	.	.	0.86282	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4987	95474	6	108233929	G	A	101373	Benign	Polycystic_liver_disease_1|not_specified	0.87537	0.85888	0.85503	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4988	354921	6	108279290	G	A	305591	Benign	Polycystic_liver_disease_1	.	.	0.92572	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4989	354946	6	108363688	T	C	305473	Benign	Osteopetrosis	.	.	0.34405	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4990	354954	6	108364106	A	G	301056	Benign	Osteopetrosis	.	.	0.34405	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4991	354961	6	108364582	T	C	305520	Benign	Osteopetrosis	.	.	0.21845	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4992	354969	6	108364951	T	C	301078	Benign	Osteopetrosis	.	.	0.21885	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4993	354976	6	108365658	T	C	305637	Benign	Osteopetrosis	.	.	0.47644	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4994	781755	6	108985057	G	A	710103	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4995	220332	6	110012714	C	T	221621	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_4|not_specifi...	0.00317	0.00811	0.0016	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4996	668145	6	110038102	G	A	661063	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4997	673440	6	110048165	C	T	661506	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4998	673441	6	110053721	T	G	661070	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
4999	694980	6	110053824	G	GT	683117	Uncertain_significance	Charcot-Marie-Tooth_disease	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5000	260451	6	110059510	C	A	252050	Benign	not_specified	0.31906	0.3844	0.33806	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5001	668146	6	110059954	G	A	661491	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5002	680179	6	110062873	T	G	661500	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5003	681668	6	110085366	G	T	661393	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5004	680181	6	110085423	T	C	661395	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5005	260447	6	110106234	A	G	252054	Benign	Charcot-Marie-Tooth_disease,_type_4J|Amyotroph...	0.51423	.	0.35883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5006	670527	6	110107197	G	A	661436	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5007	680184	6	110110554	A	C	661442	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5008	670528	6	110110943	G	T	661078	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5009	260449	6	110146303	G	A	252056	Benign	Charcot-Marie-Tooth_disease_type_4|not_specifi...	0.32147	0.42887	0.39577	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5010	355052	6	110146588	C	T	298744	Benign	Charcot-Marie-Tooth_disease_type_4|Amyotrophic...	.	.	0.44828	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5011	403565	6	111901453	G	T	389644	Benign	not_specified	0.83954	0.85361	0.93171	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5012	355054	6	112375307	A	G	298749	Benign	Progressive_pseudorheumatoid_dysplasia	.	.	0.23862	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5013	355060	6	112382313	G	T	301225	Benign	Progressive_pseudorheumatoid_dysplasia	0.33615	0.26062	0.29892	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5014	672745	6	112430886	T	C	661518	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5015	44405	6	112435264	T	G	53572	Benign	Dilated_cardiomyopathy_1JJ|not_specified	0.25719	0.23929	0.24002	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5016	44406	6	112435273	A	C	53573	Benign	Dilated_cardiomyopathy_1JJ|not_specified	0.25811	.	0.24002	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5017	672744	6	112435444	G	GAAT	661450	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5018	672743	6	112435682	G	A	661503	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5019	672742	6	112435796	G	C	661082	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5020	673048	6	112435807	G	T	661084	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5021	44401	6	112435912	A	T	53568	Benign	Dilated_cardiomyopathy_1JJ|not_specified	0.30494	0.26713	0.28175	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5022	678524	6	112436198	G	T	661530	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5023	678505	6	112436821	G	A	661514	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5024	671121	6	112443134	G	A	661521	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5025	671120	6	112450351	G	C	661527	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5026	671119	6	112450520	T	C	661477	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5027	683590	6	112456123	CAGGT	C	661535	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5028	672708	6	112457145	A	T	661483	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5029	672707	6	112457156	T	C	661550	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5030	44377	6	112457383	G	C	53544	Benign	Dilated_cardiomyopathy_1JJ|not_specified	0.22205	.	0.21046	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5031	44376	6	112457390	C	T	53543	Benign	Dilated_cardiomyopathy_1JJ|not_specified	0.75135	0.76915	0.83986	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5032	44375	6	112457471	G	A	53542	Benign	Dilated_cardiomyopathy_1JJ|not_specified	0.75273	0.76937	0.84046	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5033	671118	6	112460541	G	A	661488	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5034	673047	6	112462882	G	A	661543	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5035	677986	6	112463076	T	C	661107	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5036	673044	6	112469179	T	C	661561	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5037	671117	6	112471688	G	C	661590	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5038	673042	6	112472005	A	G	661591	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5039	671116	6	112476210	T	C	661501	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5040	678500	6	112477139	G	C	661128	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5041	44348	6	112493872	A	G	53515	Benign	Dilated_cardiomyopathy_1JJ|not_specified	0.64878	0.66492	0.75839	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5042	678499	6	112499656	G	T	661618	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5043	673010	6	112506375	G	A	661620	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5044	671115	6	112506583	G	T	661508	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5045	177976	6	112508769	TG	GT	178204	Benign	not_specified|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5046	672702	6	112537497	A	G	661646	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5047	355088	6	116441222	AG	A	301242	Likely_benign	Metaphyseal_chondrodysplasia	.	0.02642	0.00399	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5048	256259	6	116441229	T	TGGG	252058	Benign	Metaphyseal_chondrodysplasia|Metaphyseal_chond...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5049	256260	6	116441646	C	G	252060	Benign	Metaphyseal_chondrodysplasia|Metaphyseal_chond...	0.16093	.	0.21366	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5050	162165	6	116443735	T	A	171878	not_provided	not_provided	.	.	0.44549	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5051	256262	6	116446576	A	G	252061	Benign	Metaphyseal_chondrodysplasia|Metaphyseal_chond...	0.49731	0.38046	0.44549	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5052	683469	6	116720129	T	A	661630	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5053	384684	6	116720487	C	T	368304	Benign	not_specified	0.26065	0.22432	0.13658	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5054	678582	6	116754277	G	A	661182	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5055	678111	6	116754456	G	T	661187	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5056	165061	6	116950833	T	C	174342	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.69883	0.64698	0.71006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5057	165062	6	116951678	A	C	174480	Benign/Likely_benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.11126	0.09006	0.13538	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5058	257050	6	116951761	C	G	252066	Benign	not_specified	0.05482	0.06448	0.06789	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5059	355130	6	116954040	A	C	305786	Likely_benign	Primary_ciliary_dyskinesia	.	.	0.09046	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5060	769691	6	117113765	T	TTCC	699269	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5061	403328	6	118869423	A	C	389721	Benign	not_specified	.	.	0.01897	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5062	355141	6	118880640	T	G	298827	Likely_benign	Hypertrophic_cardiomyopathy|Dilated_Cardiomyop...	.	.	0.39437	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5063	355176	6	121769905	A	AT	301331	Benign	Syndactyly|Oculodentodigital_dysplasia|Hypopla...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5064	355191	6	123537837	A	G	298869	Benign	Catecholaminergic_polymorphic_ventricular_tach...	.	.	0.48403	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5065	355206	6	123539609	C	T	301350	Benign	Catecholaminergic_polymorphic_ventricular_tach...	.	.	0.3758	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5066	355209	6	123539731	G	A	301354	Uncertain_significance	Catecholaminergic_polymorphic_ventricular_tach...	0.00067	0.00044	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5067	259915	6	123539904	C	T	252068	Benign	not_specified	0.42124	0.42535	0.376	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5068	674826	6	123580660	C	T	661633	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5069	674825	6	123589106	C	T	661570	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5070	227114	6	123594510	T	TA	229391	Benign/Likely_benign	Catecholaminergic_polymorphic_ventricular_tach...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5071	680815	6	123637909	C	T	661681	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5072	674818	6	123658680	A	G	661638	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5073	227111	6	123658825	G	T	229396	Benign	Catecholaminergic_polymorphic_ventricular_tach...	0.12349	0.2749	0.29373	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5074	674816	6	123673455	G	T	661686	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5075	227110	6	123687288	A	C	229399	Benign	Catecholaminergic_polymorphic_ventricular_tach...	0.92551	.	0.9393	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5076	674814	6	123687432	T	C	661647	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5077	680832	6	123698544	G	A	661218	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5078	227106	6	123699042	T	C	229404	Benign/Likely_benign	Catecholaminergic_polymorphic_ventricular_tach...	0.35442	0.34231	0.27217	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5079	259914	6	123702499	G	A	252069	Benign	not_specified	0.30345	0.47353	0.47624	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5080	678038	6	123818095	G	A	661596	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5081	674793	6	123818580	A	G	661599	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5082	678159	6	123818628	G	C	661226	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5083	680813	6	123825367	T	C	661232	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5084	227123	6	123833457	G	C	229411	Benign	Catecholaminergic_polymorphic_ventricular_tach...	0.84245	0.82588	0.84325	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5085	680811	6	123837617	A	G	661236	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5086	674823	6	123850194	G	A	661691	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5087	680812	6	123850730	A	G	661655	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5088	674821	6	123851447	T	A	661657	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5089	674817	6	123851538	G	C	661248	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5090	674815	6	123851590	G	A	661693	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5091	674813	6	123851610	G	A	661697	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5092	674796	6	123851865	A	T	661699	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5093	674869	6	123868288	A	G	661701	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5094	674867	6	123869459	A	G	661640	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5095	355225	6	123869769	TAAA	T	298899	Uncertain_significance	Catecholaminergic_polymorphic_ventricular_tach...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5096	674791	6	123869906	G	T	661711	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5097	674790	6	123891882	G	A	661671	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5098	674844	6	123892337	G	A	661716	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5099	684020	6	129371533	G	A	661722	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5100	92955	6	129381026	C	A	98862	Benign	Merosin_deficient_congenital_muscular_dystroph...	0.94733	0.95784	0.9367	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5101	256079	6	129465020	G	A	252071	Benign	not_specified|not_provided	0.25454	0.21458	0.2474	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5102	682904	6	129465422	G	A	661723	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5103	682907	6	129468288	A	T	661658	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5104	668910	6	129469813	C	A	661266	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5105	682915	6	129486913	T	C	661659	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5106	682917	6	129498736	A	C	661682	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5107	92943	6	129571330	G	A	98850	Benign	Merosin_deficient_congenital_muscular_dystroph...	0.26972	0.18276	0.27097	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5108	682903	6	129571488	A	T	661268	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5109	671435	6	129591515	C	T	661685	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5110	682906	6	129600962	G	A	661684	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5111	682909	6	129612563	G	T	661692	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5112	682911	6	129612624	C	T	661284	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5113	92949	6	129612808	A	G	98856	Benign	Merosin_deficient_congenital_muscular_dystroph...	0.25842	0.2683	0.3139	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5114	256063	6	129619059	G	A	252086	Benign	not_specified|not_provided	0.0842	0.13458	0.18251	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5115	682913	6	129619150	G	A	661729	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5116	682914	6	129621725	A	G	661698	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5117	256066	6	129633970	TTG	T	252088	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5118	92951	6	129634255	G	A	98858	Benign	Merosin_deficient_congenital_muscular_dystroph...	0.22774	0.219	0.35523	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5119	682921	6	129634426	G	A	661702	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5120	92952	6	129635800	G	A	98859	Benign/Likely_benign	Merosin_deficient_congenital_muscular_dystroph...	0.09111	0.06873	0.12001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5121	671452	6	129641374	T	C	661700	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5122	682924	6	129641510	G	C	661703	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5123	196660	6	129670493	C	T	193821	Conflicting_interpretations_of_pathogenicity	Merosin_deficient_congenital_muscular_dystroph...	0.003	0.00334	0.0028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5124	682920	6	129704589	C	T	661740	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5125	218657	6	131948816	T	TA	215327	Benign/Likely_benign	History_of_neurodevelopmental_disorder|not_spe...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5126	355347	6	132203470	AT	A	299023	Benign	Arterial_calcification,_generalized,_of_infanc...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5127	13590	6	132212694	A	G	28629	Benign	Obesity|Arterial_calcification,_generalized,_o...	.	.	0.55471	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5128	355377	6	132212742	A	C	299056	Benign	Arterial_calcification,_generalized,_of_infanc...	.	.	0.41274	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5129	355381	6	132212808	C	T	301463	Benign	Arterial_calcification,_generalized,_of_infanc...	.	.	0.55371	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5130	355398	6	132213623	G	C	301470	Benign	Arterial_calcification,_generalized,_of_infanc...	.	.	0.64756	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5131	355424	6	132215375	C	T	299088	Benign	Arterial_calcification,_generalized,_of_infanc...	.	.	0.56749	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5132	44773	6	133789728	G	A	53940	Benign/Likely_benign	not_specified|Cardiovascular_phenotype|Dilated...	0.38298	0.34169	0.40955	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5133	676338	6	133802542	G	A	661797	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5134	355448	6	133849966	C	T	299116	Likely_benign	Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_...	0.33269	0.43432	0.47105	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5135	355453	6	133851207	T	A	299121	Likely_benign	Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_...	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5136	355455	6	133851377	A	G	299127	Likely_benign	Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_...	.	.	0.83467	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5137	355467	6	133852245	G	A	305907	Likely_benign	Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_...	.	.	0.01198	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5138	355477	6	133852957	T	C	306198	Likely_benign	Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_...	.	.	0.02855	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5139	132871	6	135426573	A	G	136620	Likely_pathogenic	Fetal_hemoglobin_quantitative_trait_locus_2	.	.	0.17532	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5140	95757	6	135639644	C	T	101654	Benign	Joubert_syndrome|Joubert_syndrome_3|not_specified	0.58313	0.62864	0.59485	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5141	128326	6	135716008	T	C	133775	Benign/Likely_benign	Joubert_syndrome|not_specified|not_provided	0.01858	0.02652	0.01138	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5142	260839	6	135763866	G	A	252135	Benign	Joubert_syndrome|Joubert_syndrome_3|not_specified	0.82028	0.91061	0.82288	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5143	667961	6	135778371	A	G	661803	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5144	166664	6	135787184	C	T	177234	Benign/Likely_benign	not_specified|not_provided	0.00239	0.00398	0.002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5145	673960	6	135813251	G	T	661813	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5146	402420	6	136582497	G	T	389734	Benign	not_specified	.	0.49764	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5147	802274	6	137166682	G	A	790592	Benign	Rhizomelic_chondrodysplasia_punctata_type_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5148	402973	6	137325901	TAA	TA,T	389720	Benign	not_specified	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5149	133990	6	139197609	G	A	137729	not_provided	not_specified	0.26691	0.28764	0.27616	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5150	802278	6	142718801	G	A	790596	Benign	Lethal_congenital_contracture_syndrome_9	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5151	802279	6	142758631	A	G	790597	Benign	Lethal_congenital_contracture_syndrome_9	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5152	259105	6	143784031	AT	A	252147	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5153	167458	6	143792078	C	G	177938	Benign	not_specified|not_provided	0.30993	0.27257	0.32368	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5154	259108	6	143806276	A	G	252150	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	0.48716	0.44284	0.57089	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5155	355585	6	143810909	A	G	306045	Likely_benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.12899	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5156	355659	6	144512671	T	TA	306156	Benign	Familial_hemophagocytic_lymphohistiocytosis	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5157	670732	6	146007166	G	A	661845	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5158	95306	6	146056476	G	C	101205	Benign	Seizures|Lafora_disease|not_specified|not_prov...	0.69556	.	0.65336	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5159	670731	6	146056801	G	A	655716	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5160	670730	6	146056848	T	C	655717	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5161	668132	6	146057289	C	T	661806	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5162	2062	6	149721690	G	A	17101	risk_factor	Diabetes_mellitus,_insulin-dependent,_5	.	0.55508	0.64597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5163	355674	6	150710632	A	G	306195	Conflicting_interpretations_of_pathogenicity	Congenital_hypothyroidism|not_provided	0.00961	0.00321	0.00938	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5164	257584	6	150716696	T	C	252155	Benign	Iodotyrosine_deiodination_defect|not_specified	0.92094	0.86147	0.87201	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5165	355689	6	150719710	C	T	306479	Likely_benign	Congenital_hypothyroidism	.	.	0.33287	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5166	355707	6	150720439	C	T	306245	Benign	Congenital_hypothyroidism	.	.	0.8768	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5167	355710	6	150720571	T	G	299312	Benign	Congenital_hypothyroidism	.	.	0.80072	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5168	355714	6	150720908	T	C	299319	Benign	Congenital_hypothyroidism	.	.	0.63279	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5169	355715	6	150720920	G	A	306246	Uncertain_significance	Congenital_hypothyroidism	.	.	0.01098	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5170	355731	6	150721445	A	G	306512	Likely_benign	Congenital_hypothyroidism	.	.	0.29433	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5171	355734	6	150721724	CA	C	306278	Likely_benign	Congenital_hypothyroidism	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5172	355738	6	150721850	G	A	306280	Uncertain_significance	Congenital_hypothyroidism	.	.	0.02057	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5173	355740	6	150721882	C	T	306538	Likely_benign	Congenital_hypothyroidism	.	.	0.29213	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5174	355742	6	150722144	A	G	306289	Uncertain_significance	Congenital_hypothyroidism	.	.	0.02057	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5175	355755	6	150723028	G	A	306542	Likely_benign	Congenital_hypothyroidism	.	.	0.09066	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5176	355758	6	150723368	A	C	306545	Benign	Congenital_hypothyroidism	.	.	0.79772	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5177	355759	6	150723408	G	A	299355	Likely_benign	Congenital_hypothyroidism	.	.	0.09125	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5178	355760	6	150723616	A	G	299359	Likely_benign	Congenital_hypothyroidism	.	.	0.29173	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5179	355761	6	150723668	G	A	299361	Likely_benign	Congenital_hypothyroidism	.	.	0.29173	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5180	355764	6	150723812	T	C	301822	Likely_benign	Congenital_hypothyroidism	.	.	0.29173	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5181	355766	6	150724047	A	ACTGGGGGTGATTCAC	301834	Benign	Congenital_hypothyroidism	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5182	355767	6	150724064	A	C	299366	Likely_benign	Congenital_hypothyroidism	.	.	0.3772	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5183	355770	6	150724563	G	A	306570	Uncertain_significance	Congenital_hypothyroidism	.	.	0.02157	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5184	355772	6	150724706	C	A	299376	Likely_benign	Congenital_hypothyroidism	.	.	0.11122	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5185	355780	6	150725086	TA	T	301838	Likely_benign	Congenital_hypothyroidism	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5186	355793	6	152442821	C	A	306600	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	.	.	0.19589	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5187	355794	6	152442903	CT	C	306312	Uncertain_significance	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5188	355803	6	152443389	C	T	299385	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	.	.	0.19589	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5189	130433	6	152453291	G	A	135879	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.05444	0.05133	0.02576	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5190	262194	6	152461048	CTGTT	C	252156	Benign	not_specified|not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5191	262193	6	152461061	G	A	252157	Benign	not_specified|not_provided	0.43926	0.40228	0.44449	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5192	194305	6	152469329	G	C	191468	Benign/Likely_benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.00038	0.0006	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5193	670212	6	152476952	G	C	661868	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5194	670211	6	152522812	T	G	661430	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5195	670210	6	152523143	G	A	661874	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5196	670209	6	152534946	T	A	661827	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5197	670206	6	152536374	T	A	661898	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5198	670205	6	152539181	C	T	661891	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5199	683973	6	152539857	T	C	661895	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5200	130419	6	152540278	A	C	135865	Benign/Likely_benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.99308	0.99228	0.99561	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5201	670201	6	152542868	G	T	661922	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5202	670200	6	152546740	G	A	661927	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5203	670199	6	152547151	T	C	661468	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5204	670198	6	152552375	G	A	661833	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5205	262178	6	152555112	C	T	252170	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.16877	0.23745	0.20887	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5206	683971	6	152556258	T	C	661469	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5207	262177	6	152558111	T	TA	252171	Benign/Likely_benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5208	670196	6	152560478	C	A	661841	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5209	670195	6	152560916	G	A	661843	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5210	670192	6	152561045	C	T	661478	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5211	670191	6	152565897	T	C	661930	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5212	683953	6	152566105	A	G	661847	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5213	262176	6	152570415	G	A	252172	Benign	not_specified	0.62389	0.6578	0.68071	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5214	670190	6	152576591	A	G	661920	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5215	670188	6	152590617	T	G	661485	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5216	672754	6	152602726	G	A	661925	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5217	683965	6	152604821	A	G	661950	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5218	683962	6	152604844	A	G	661938	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5219	672753	6	152615042	G	T	661941	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5220	670187	6	152622876	T	A	661860	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5221	262172	6	152629586	G	A	252176	Benign	not_specified|not_provided	0.46156	0.50011	0.45747	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5222	670185	6	152629815	C	T	661954	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5223	670184	6	152638209	A	G	661489	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5224	670183	6	152638239	T	C	661965	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5225	683950	6	152638412	A	G	661969	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5226	683952	6	152646693	T	C	661499	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5227	130408	6	152647681	A	T	135855	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.81047	0.77974	0.8147	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5228	130404	6	152652034	A	T	135851	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.79586	0.77597	0.80332	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5229	262160	6	152653037	T	C	252183	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.4863	0.46079	0.41314	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5230	130399	6	152658142	T	C	135846	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.78818	0.75468	0.79313	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5231	262158	6	152658191	T	C	252186	Benign	not_specified|not_provided	0.80063	0.75842	0.79014	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5232	670177	6	152658216	A	G	661865	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5233	670173	6	152660310	A	G	661510	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5234	130398	6	152660451	G	A	135845	Benign/Likely_benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.11618	0.1142	0.07328	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5235	683949	6	152660837	G	T	661984	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5236	130397	6	152665261	C	A	135844	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.56728	0.57615	0.54553	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5237	683947	6	152665628	C	T	661988	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5238	683945	6	152667931	T	A	661875	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5239	683943	6	152668628	C	G	661890	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5240	263075	6	152671475	A	C	252188	Benign	Spinocerebellar_ataxia,_autosomal_recessive_8|...	0.59619	0.58462	0.58746	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5241	670171	6	152671553	A	G	661897	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5242	355885	6	152671919	G	GA	306415	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5243	670170	6	152671975	A	G	661991	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5244	670169	6	152672031	T	C	661953	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5245	670168	6	152672073	T	C	661522	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5246	670167	6	152673043	G	A	661955	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5247	262154	6	152673147	G	A	252189	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.57827	0.579	0.5659	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5248	262153	6	152673519	A	C	252190	Benign	not_specified|not_provided	0.5796	.	0.56749	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5249	683939	6	152674089	T	G	661901	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5250	683938	6	152674132	T	C	661904	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5251	670165	6	152675054	T	C	661957	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5252	683935	6	152675137	C	T	661995	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5253	130393	6	152675854	A	G	135840	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.58119	0.57994	0.56829	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5254	670162	6	152683108	A	G	661528	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5255	670161	6	152683183	G	T	661916	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5256	670160	6	152683199	G	A	661919	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5257	130388	6	152683413	G	T	135835	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.64809	0.65412	0.65915	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5258	262206	6	152688567	C	T	252193	Benign	not_specified|not_provided	0.93226	0.87377	0.86362	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5259	262204	6	152690559	G	A	252195	Benign	not_specified|not_provided	0.46279	0.4818	0.41094	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5260	130453	6	152694184	T	C	135899	Benign	Cerebellar_ataxia|Emery-Dreifuss_muscular_dyst...	0.52883	.	0.46825	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5261	683934	6	152702821	G	A	661979	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5262	683928	6	152712133	C	A	661929	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5263	670153	6	152770435	T	C	661603	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5264	262164	6	152793412	C	A	252207	Benign	not_specified|not_provided	0.78302	0.76573	0.85523	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5265	670151	6	152826627	C	T	662098	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5266	683894	6	152949109	A	G	662107	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5267	670150	6	152949230	T	G	661628	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5268	774186	6	153077332	C	T	699401	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5269	9538	6	154360797	A	G	24577	drug_response	Drugs_used_in_opioid_dependence_response_-_Dos...	0.09697	0.1856	0.22344	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5270	671615	6	158536116	A	T	661629	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5271	680781	6	158539828	A	G	662009	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5272	680778	6	158541175	G	A	662011	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5273	387771	6	158549156	A	G	370286	Likely_benign	not_specified	.	2e-05	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5274	671702	6	158568161	G	A	661635	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5275	680779	6	158569686	G	A	662130	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5276	139094	6	158569886	T	C	142797	Benign	not_specified	0.41341	0.47085	0.40056	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5277	671740	6	158570024	A	AT	661642	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5278	139093	6	158571501	G	A	142796	Benign	not_specified|not_provided	0.70514	0.71735	0.71386	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5279	671614	6	158571655	G	C	662145	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5280	676193	6	158571706	G	C	661650	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5281	14751	6	160113872	A	G	29790	drug_response	SUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascu...	.	0.50239	0.41074	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5282	403448	6	160560897	CTGGTAAGT	C	389722	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5283	692202	6	161152240	G	A	679944	Benign	Otitis_media,_susceptibility_to	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5284	355998	6	161769835	T	C	302100	Likely_benign	Parkinson_Disease,_Juvenile	.	.	0.05771	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5285	356006	6	161770479	G	A	299579	Likely_benign	Parkinson_Disease,_Juvenile	.	.	0.09844	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5286	259433	6	162622304	A	G	252218	Benign	not_specified	0.94034	0.93292	0.95048	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5287	8181	6	166574246	G	A	23220	risk_factor	Neural_tube_defects,_susceptibility_to	.	.	0.79732	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5288	669503	6	166796665	C	T	662016	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5289	682625	6	166796720	T	C	662113	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5290	682624	6	166796832	C	G	662127	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5291	356027	6	167343141	G	A	302139	Benign/Likely_benign	Leukoencephalopathy,_cystic,_without_megalence...	0.08781	.	0.07548	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5292	356032	6	167344583	A	G	302143	Benign	Leukoencephalopathy,_cystic,_without_megalence...	0.23997	0.17309	0.18451	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5293	356038	6	167369650	G	A	299616	Likely_benign	Leukoencephalopathy,_cystic,_without_megalence...	0.05242	0.04012	0.02316	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5294	12713	6	169635010	G	A	27752	risk_factor	Lumbar_disc_herniation,_susceptibility_to	0.30098	0.36843	0.35563	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5295	768123	6	169972627	G	A	699457	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5296	380786	6	170162515	A	C	368809	Benign	not_specified	0.21259	0.1503	0.20707	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5297	668134	6	170179698	T	C	662154	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5298	130561	6	170878793	T	C	136007	Likely_benign	not_specified	0.55359	0.53191	0.61462	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5299	193730	7	299850	G	T	190893	Benign	not_specified	0.51818	0.47353	0.53115	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5300	193731	7	299881	A	G	190894	Benign	not_specified	0.50679	.	0.52536	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5301	260939	7	780980	T	G	252915	Benign	not_specified	0.79183	0.8385	0.75899	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5302	260922	7	794471	A	G	252920	Benign	not_specified	0.83872	0.83334	0.82668	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5303	260930	7	810219	T	C	252936	Benign	not_specified	0.43195	0.43043	0.39137	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5304	260932	7	814788	G	A	252938	Benign	not_specified	0.62694	0.62109	0.66873	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5305	792067	7	1786120	G	A	710923	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5306	591286	7	2552881	A	AGATG	582279	Uncertain_significance	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5307	257271	7	2566028	G	A	252779	Benign	not_specified	0.04371	0.04039	0.01997	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5308	257272	7	2566433	G	A	252780	Benign	not_specified	0.0614	0.06713	0.03514	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5309	585490	7	2577781	T	C	576963	Benign	not_provided	0.43803	0.38948	0.46146	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5310	446896	7	2578237	TC	CT	441075	Benign	not_specified|not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5311	585492	7	2583328	C	T	576970	Benign	not_provided	0.15134	0.17849	0.09625	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5312	402477	7	2946461	T	C	389742	Benign	not_specified	0.54659	0.51631	0.59645	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5313	402479	7	2962753	G	A	389781	Benign	not_specified	0.63464	0.67951	0.50539	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5314	402480	7	2969680	G	A	389794	Benign	not_specified	0.17146	0.18791	0.10204	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5315	402481	7	2976767	G	A	389822	Benign	not_specified	0.14847	.	0.09066	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5316	742980	7	4801861	C	T	750665	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5317	778294	7	5396916	G	A	777862	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5318	135065	7	6026775	T	C	138804	Benign	Hereditary_nonpolyposis_colorectal_cancer_type...	0.87039	0.85139	0.88319	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5319	41703	7	6026865	T	C	50142	Benign	Hereditary_cancer-predisposing_syndrome|Lynch_...	0.02076	.	0.01098	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5320	595920	7	6035021	C	A	586981	Benign	not_specified	.	.	0.14916	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5321	91371	7	6035507	C	T	96846	Benign	Lynch_syndrome	.	.	0.15176	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5322	36693	7	6036980	G	C	45354	Benign	Hereditary_cancer-predisposing_syndrome|Lynch_...	0.82377	.	0.83127	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5323	91280	7	6048804	G	C	96755	Benign	Lynch_syndrome	.	.	0.15615	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5324	91284	7	6048973	C	A	96759	Benign	Lynch_syndrome	0.2415	0.22118	0.23203	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5325	682708	7	10978789	A	T	662146	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5326	682704	7	10979396	A	G	662578	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5327	359485	7	16127297	G	T	302341	Benign	Congenital_Muscular_Dystrophy,_alpha-dystrogly...	.	.	0.33367	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5328	359491	7	16127845	G	A	302352	Uncertain_significance	Congenital_Muscular_Dystrophy,_alpha-dystrogly...	.	.	0.01198	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5329	359547	7	16129172	A	G	305641	Benign	Congenital_Muscular_Dystrophy,_alpha-dystrogly...	.	0.99474	0.99641	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5330	359556	7	16129643	T	C	310607	Benign	Congenital_Muscular_Dystrophy,_alpha-dystrogly...	.	.	0.8121	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5331	359566	7	16130332	C	A	302392	Benign	Congenital_Muscular_Dystrophy,_alpha-dystrogly...	.	.	0.82987	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5332	359582	7	16131260	C	T	310459	Benign	Congenital_Muscular_Dystrophy,_alpha-dystrogly...	.	.	0.79633	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5333	257460	7	16131286	G	C	252661	Benign/Likely_benign	not_specified|Congenital_Muscular_Dystrophy,_a...	0.0403	.	0.02336	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5334	682001	7	16255602	A	T	662925	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5335	682000	7	16298434	T	C	662835	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5336	681997	7	16298438	T	G	662363	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5337	681995	7	16298766	A	AT	662840	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5338	683645	7	16347827	A	T	662364	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5339	681994	7	16348059	T	C	662850	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5340	681979	7	16461092	T	C	662379	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5341	403464	7	17854575	G	GAA	390597	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5342	402927	7	18767343	A	G	389811	Benign	not_specified	0.23507	0.31174	0.32987	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5343	402925	7	18993870	C	T	389817	Benign	not_specified	0.76875	0.76792	0.77356	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5344	178721	7	21582917	C	T	174188	Benign/Likely_benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.08347	0.09156	0.0613	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5345	93682	7	21582963	GA	TT	99585	Benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5346	93693	7	21599233	C	T	99596	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.4536	0.46831	0.54293	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5347	163097	7	21628237	C	T	174192	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.99013	0.99043	0.99062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5348	93684	7	21630982	A	G	99587	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.4346	0.43478	0.53035	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5349	178725	7	21640361	T	C	174059	Benign/Likely_benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.35193	0.35292	0.22045	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5350	163100	7	21640405	A	G	174194	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.81529	0.78867	0.76777	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5351	163102	7	21641218	G	A	174195	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.80067	0.78468	0.75379	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5352	93687	7	21658855	A	G	99590	Benign	Primary_ciliary_dyskinesia|not_specified	0.51261	0.48895	0.5619	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5353	93688	7	21659554	A	ATTAAT	99591	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5354	93690	7	21659645	T	C	99593	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.39861	0.39588	0.42332	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5355	93692	7	21723573	A	T	99595	Benign/Likely_benign	Primary_ciliary_dyskinesia|not_specified	0.22629	0.21313	0.22684	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5356	163110	7	21775443	G	A	174201	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.8575	.	0.75539	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5357	163112	7	21778449	C	T	174202	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.66476	0.64086	0.53954	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5358	163113	7	21779278	A	G	174068	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.53138	0.5341	0.3728	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5359	163121	7	21893993	G	T	174075	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.59899	0.57047	0.45947	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5360	163126	7	21901566	T	C	174212	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.75771	0.72554	0.63439	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5361	178735	7	21924014	A	G	174079	Benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.71675	.	0.6224	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5362	178739	7	21939032	C	A	174216	Benign/Likely_benign	Primary_ciliary_dyskinesia|not_specified|not_p...	0.25408	.	0.19349	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5363	695364	7	21940815	C	T	683887	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5364	359702	7	21940960	A	G	310581	Likely_benign	Primary_ciliary_dyskinesia	.	.	0.21546	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5365	359713	7	22980929	A	AAC	302509	Benign	Hypomyelination_and_Congenital_Cataract	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5366	359719	7	22981404	T	G	305783	Benign	Hypomyelination_and_Congenital_Cataract	.	.	0.22504	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5367	359721	7	22981528	T	C	310823	Benign	Hypomyelination_and_Congenital_Cataract	.	.	0.42752	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5368	359725	7	22982207	T	C	302520	Benign	Hypomyelination_and_Congenital_Cataract	.	.	0.42772	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5369	359730	7	22982547	G	A	310601	Benign	Hypomyelination_and_Congenital_Cataract	.	.	0.22065	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5370	359743	7	22983600	T	C	305847	Benign	Hypomyelination_and_Congenital_Cataract	.	.	0.22504	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5371	359745	7	22983702	A	T	302533	Benign	Hypomyelination_and_Congenital_Cataract	.	.	0.66713	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5372	359749	7	22983890	T	C	305881	Benign	Hypomyelination_and_Congenital_Cataract	.	.	0.67213	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5373	359758	7	22984772	AG	CA	302539	Uncertain_significance	Hypomyelination_and_Congenital_Cataract	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5374	359760	7	22984824	T	C	302544	Benign	Hypomyelination_and_Congenital_Cataract	.	.	0.65295	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5375	359762	7	22984967	A	G	310888	Benign	Hypomyelination_and_Congenital_Cataract	.	.	0.20248	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5376	706630	7	22999894	A	C	692215	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5377	21726	7	23015831	T	C	34578	Benign	Hypomyelination_and_Congenital_Cataract|not_sp...	0.34451	0.37382	0.3748	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5378	359798	7	23164701	C	T	310950	Benign/Likely_benign	PERCHING_syndrome|Retinitis_Pigmentosa,_Dominant	0.45815	0.35375	0.42033	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5379	802302	7	23195555	CTTTAT	C	790717	Benign	PERCHING_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5380	359825	7	24738164	C	G	305960	Likely_benign	Nonsyndromic_Hearing_Loss,_Mixed	.	.	0.12001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5381	44840	7	24742436	T	C	54007	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Mixed	0.14801	0.19612	0.20188	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5382	227286	7	24747802	C	T	229594	Likely_benign	not_specified	0.00031	0.00017	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5383	44844	7	24758795	T	C	54011	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Mixed	0.53737	0.57116	0.73762	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5384	359877	7	25159184	T	C	310733	Likely_benign	Thrombocytopenia	.	.	0.77816	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5385	359878	7	25159211	A	T	306005	Likely_benign	Thrombocytopenia	.	.	0.47304	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5386	359896	7	25160369	T	C	310753	Likely_benign	Thrombocytopenia	.	.	0.01577	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5387	359907	7	25160988	A	G	310762	Likely_benign	Thrombocytopenia	.	.	0.4391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5388	359922	7	25161602	A	G	306027	Likely_benign	Thrombocytopenia	.	.	0.01577	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5389	359923	7	25161614	A	ATGTT	306034	Likely_benign	Thrombocytopenia	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5390	359953	7	27134003	G	T	302746	Likely_benign	Athabaskan_brainstem_dysgenesis|Bosley-Salih-A...	.	.	0.03974	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5391	369585	7	27135314	C	T	353814	Benign	Microtia,_hearing_impairment,_and_cleft_palate	0.73043	0.766	0.78075	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5392	432169	7	30054488	CCTT	C	425750	Conflicting_interpretations_of_pathogenicity	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5393	683987	7	30634004	T	C	662895	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5394	258532	7	30634661	C	G	252786	Benign	Peripheral_axonal_neuropathy|Charcot-Marie-Too...	0.73988	.	0.64936	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5395	258537	7	30643069	C	A	252787	Benign	not_specified	0.49141	0.55177	0.39916	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5396	681750	7	30652090	C	T	662916	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5397	683989	7	30657193	A	G	662934	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5398	681718	7	30662237	G	A	662938	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5399	258536	7	30673345	C	T	252795	Benign	Peripheral_axonal_neuropathy|Charcot-Marie-Too...	0.48979	0.55254	0.40415	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5400	360021	7	30673512	TA	T	311094	Uncertain_significance	Peripheral_axonal_neuropathy|Charcot-Marie-Too...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5401	226023	7	30726777	A	T	227761	drug_response	selective_beta-2-adrenoreceptor_agonists_respo...	.	.	0.41534	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5402	440011	7	33060946	A	G	433763	Benign	not_specified	0.7171	0.68069	0.66693	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5403	167609	7	33134883	T	C	177381	Benign/Likely_benign	Retinitis_pigmentosa_9|not_specified|Retinitis...	0.16785	0.20785	0.17552	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5404	360045	7	33136983	G	A	311120	Benign	Retinitis_Pigmentosa,_Dominant	0.994	0.99376	0.99661	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5405	360051	7	33169258	C	G	306176	Likely_benign	Bardet-Biedl_syndrome	.	.	0.15795	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5406	360055	7	33169406	G	A	306180	Likely_benign	Bardet-Biedl_syndrome	.	.	0.04673	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5407	360059	7	33169660	T	C	306185	Likely_benign	Bardet-Biedl_syndrome	.	.	0.14876	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5408	263126	7	33192502	A	G	252797	Benign	not_specified	0.15554	0.18852	0.15755	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5409	802303	7	33385852	C	T	790719	Benign	Bardet-Biedl_syndrome_9	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5410	263117	7	33388713	G	A	252807	Benign/Likely_benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.17553	0.20415	0.17133	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5411	360112	7	34125420	G	T	302890	Benign	Diaphanospondylodysostosis	0.24727	.	0.1893	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5412	360118	7	34192762	G	C	306226	Benign	Diaphanospondylodysostosis	0.90305	.	0.91014	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5413	360138	7	34194102	A	G	311236	Benign	Diaphanospondylodysostosis	.	.	0.26657	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5414	2192	7	34818113	A	T	17231	risk_factor	Asthma-related_traits,_susceptibility_to,_2	.	0.44655	0.46745	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5415	518385	7	35293193	A	G	508825	Benign	Atrial_septal_defect_4|Cardiovascular_phenotype	0.74627	0.67668	0.69389	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5416	260759	7	37901581	G	A	252825	Benign	not_specified	0.93472	0.88854	0.83686	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5417	260762	7	37903904	C	T	252827	Benign	not_specified	0.79082	.	0.74062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5418	164801	7	37907304	T	C	174226	Benign	not_specified	0.7871	0.73828	0.74341	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5419	164804	7	37924737	T	G	174093	Benign	not_specified	0.4411	.	0.55332	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5420	260754	7	37924879	A	G	252837	Benign	not_specified	0.44126	0.52817	0.55332	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5421	221007	7	37934146	TA	CT	221701	Benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5422	260756	7	37934234	G	A	252839	Benign	not_specified	0.65126	0.65957	0.61202	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5423	559088	7	40228078	A	T	549617	Benign	not_provided	0.08489	.	0.20527	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5424	559092	7	40314165	G	A	549621	Benign	not_provided	0.28434	0.35979	0.31609	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5425	559093	7	40314243	A	G	549622	Benign	not_provided	0.28214	.	0.34225	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5426	559095	7	40899967	G	C	549624	Benign	not_provided	0.29979	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5427	360161	7	42000924	C	T	311248	Benign	Polydactyly|Pallister-Hall_syndrome|Greig_ceph...	.	.	0.3113	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5428	360162	7	42001171	G	A	302940	Benign	Polydactyly|Pallister-Hall_syndrome|Greig_ceph...	.	.	0.26617	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5429	360209	7	42003500	G	A	306272	Benign	Polydactyly|Pallister-Hall_syndrome|Greig_ceph...	.	.	0.45168	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5430	255433	7	42005678	G	A	252855	Benign	Polydactyly|Pallister-Hall_syndrome|Greig_ceph...	0.25635	0.4558	0.42153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5431	681351	7	42007071	C	T	662963	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5432	255420	7	42064852	C	G	252868	Benign	Polydactyly|Pallister-Hall_syndrome|Greig_ceph...	0.96778	0.97346	0.96346	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5433	683174	7	42079356	C	A	662928	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5434	683173	7	42084728	A	G	662965	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5435	255446	7	42088222	T	C	252880	Benign	Polydactyly|Pallister-Hall_syndrome|Greig_ceph...	0.66185	0.56303	0.60363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5436	683170	7	42188330	T	C	662420	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5437	360286	7	44183975	TG	T	306342	Benign	Maturity_onset_diabetes_mellitus_in_young|Perm...	.	.	0.41114	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5438	129147	7	44185088	G	A	134593	Benign	Maturity_onset_diabetes_mellitus_in_young|Perm...	0.3349	0.36806	0.41314	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5439	673534	7	44189321	A	G	662425	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5440	676858	7	44190468	T	G	662432	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5441	683651	7	44198944	G	GC	662969	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5442	403258	7	44579180	G	C	389750	Benign	not_specified	0.2229	0.24775	0.2472	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5443	261965	7	45077978	G	A	252887	Benign	Cerebral_cavernous_malformations_2|not_specified	0.06505	0.06287	0.03295	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5444	712069	7	47971659	T	C	730500	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5445	691984	7	50466304	A	G	679730	association	Leukemia,_acute_lymphoblastic_2	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5446	694328	7	50470604	T	G	682220	association	Leukemia,_acute_lymphoblastic_2	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5447	360432	7	50544314	C	T	311345	Benign	Deficiency_of_aromatic-L-amino-acid_decarboxyl...	0.20952	0.2089	0.19828	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5448	360449	7	55086755	G	T	303193	Likely_benign	Lung_cancer	.	.	0.22644	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5449	360450	7	55086780	A	C	311361	Likely_benign	Lung_cancer	.	.	0.92971	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5450	134021	7	55229255	G	A	137760	Benign/Likely_benign	Lung_cancer|not_specified	0.20268	0.28696	0.29213	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5451	259677	7	55238874	T	A	252901	Benign/Likely_benign	Lung_cancer|not_specified	0.32247	.	0.39038	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5452	45271	7	55249063	G	A	54438	Benign/Likely_benign	Lung_cancer|not_specified	0.54244	0.52278	0.43271	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5453	360476	7	55273591	G	GA	311489	Likely_benign	Lung_cancer	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5454	360482	7	55274084	T	C	306517	Likely_benign	Lung_cancer	.	.	0.1869	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5455	92588	7	65425894	A	G	98496	Benign	Mucopolysaccharidosis_type_VII|not_specified|n...	0.49085	0.57963	0.58067	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5456	528232	7	65432567	T	C	522777	Benign	not_provided	.	.	0.5599	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5457	92583	7	65439879	G	C	98491	Benign	not_specified|not_provided	0.48854	0.57221	0.5643	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5458	92591	7	65444359	T	TGA	98499	Benign	not_specified|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5459	680525	7	65541307	C	G	662958	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5460	676097	7	65551931	T	C	662962	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5461	675236	7	65552614	T	C	662438	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5462	129370	7	66098384	G	A	134816	Benign/Likely_benign	Seizures|Progressive_myoclonic_epilepsy|not_sp...	0.08304	0.10228	0.07827	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5463	262690	7	66103435	C	CAGGA	252906	Benign	not_specified|not_provided	0.10737	0.1288	0.1254	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5464	360600	7	66105163	C	G	306626	Benign	Progressive_myoclonic_epilepsy	.	.	0.6238	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5465	360601	7	66105198	C	A	303285	Benign	Progressive_myoclonic_epilepsy	.	.	0.6236	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5466	360619	7	66106875	A	G	303299	Benign	Progressive_myoclonic_epilepsy	.	.	0.6234	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5467	360627	7	66107971	C	G	311548	Likely_benign	Progressive_myoclonic_epilepsy	.	.	0.11282	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5468	21544	7	66453460	G	A	34396	Benign	Shwachman-Diamond_syndrome_1|not_specified	0.03937	0.03826	0.01817	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5469	675424	7	73457255	G	A	663006	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5470	177898	7	73474825	G	C	176596	Benign	Supravalvar_aortic_stenosis|Cutis_laxa,_autoso...	0.07251	0.07119	0.04014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5471	683509	7	73475775	G	A	662978	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5472	683865	7	73480805	G	A	663031	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5473	360671	7	73483531	C	CA	306729	Benign	Supravalvar_aortic_stenosis|Cutis_laxa,_autoso...	.	.	0.29014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5474	138789	7	75614082	C	G	142492	Benign	Antley-Bixler_syndrome_with_genital_anomalies_...	0.85271	0.90909	0.8119	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5475	138790	7	75614953	T	C	142493	Benign	Antley-Bixler_syndrome_with_genital_anomalies_...	0.8729	.	0.83526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5476	256840	7	75615006	C	T	252929	Benign/Likely_benign	Antley-Bixler_syndrome_with_genital_anomalies_...	0.23674	0.3639	0.28614	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5477	360731	7	75616105	G	A	303417	Likely_benign	Antley-Bixler_syndrome_with_genital_anomalies_...	.	.	0.26877	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5478	667830	7	75677504	C	T	655803	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5479	129565	7	77756580	T	C	135011	Benign	not_specified|not_provided	0.88398	0.82481	0.78654	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5480	129564	7	77756724	C	T	135010	Benign	not_specified|not_provided	0.88398	0.8244	0.78634	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5481	129557	7	78119109	C	T	135003	Benign	not_specified|not_provided	0.34546	0.2942	0.32308	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5482	360740	7	80231504	G	C	306836	Likely_benign	Platelet_glycoprotein_IV_deficiency	.	.	0.63339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5483	487077	7	80242920	A	G	480401	.	.	.	.	0.34685	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5484	360748	7	80275455	A	C	311770	Likely_benign	Platelet_glycoprotein_IV_deficiency	.	.	0.39197	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5485	360754	7	80290369	A	G	311791	Likely_benign	Platelet_glycoprotein_IV_deficiency	0.92034	0.96494	0.91833	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5486	43607	7	81346685	T	C	52776	Benign/Likely_benign	Deafness,_autosomal_recessive_39|not_specified...	0.75304	.	0.79832	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5487	674767	7	81598988	G	A	662981	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5488	674594	7	81600197	A	G	663052	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5489	674593	7	81600267	T	G	663057	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5490	674592	7	81601231	C	G	663065	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5491	678451	7	81604102	A	AGTATTAG	662984	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5492	416574	7	81634822	GA	G	396450	Benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5493	668817	7	81641188	T	C	663067	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5494	516741	7	81641570	G	GAAA	501832	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5495	683280	7	81667117	A	C	663072	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5496	683279	7	81667804	A	G	662988	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5497	674634	7	81693768	T	C	663083	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5498	668894	7	81964857	G	T	663009	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5499	668892	7	81978624	A	G	663013	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5500	260254	7	83029438	C	T	252945	Benign	not_specified|not_provided	0.33808	0.42234	0.33946	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5501	260257	7	83034754	T	A	252946	Benign	not_specified	0.45994	0.60634	0.55511	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5502	260255	7	83037751	C	A	252948	Benign	not_specified|not_provided	0.46163	0.6078	0.55631	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5503	194754	7	83590852	T	C	191917	Benign	not_specified	0.58358	0.6132	0.61202	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5504	256164	7	87032613	A	G	252949	Benign	not_specified	0.92342	.	0.87999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5505	256161	7	87053206	G	A	252952	Benign	not_specified	0.92596	0.89901	0.8736	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5506	256160	7	87056176	T	C	252953	Benign	Progressive_familial_intrahepatic_cholestasis|...	0.16854	0.10565	0.17033	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5507	198082	7	87082292	G	A	195243	Benign	Progressive_familial_intrahepatic_cholestasis|...	0.40412	0.47648	0.34784	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5508	225939	7	87138645	A	G	227763	drug_response	MDR1_POLYMORPHISM|fentanyl_response_-_Dosage,_...	0.57666	0.50344	0.60483	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5509	166622	7	87160618	A	C	176988	drug_response	Inflammatory_bowel_disease_13|not_specified|on...	0.67807	.	0.61701	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5510	194187	7	87179601	A	G	191350	Benign	not_specified|not_provided	0.6424	0.54191	0.58387	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5511	683171	7	91570129	C	T	663016	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5512	360809	7	91570290	G	C	311831	Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome	.	.	0.62859	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5513	672176	7	91570615	C	A	662996	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5514	682737	7	91622676	G	A	663113	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5515	671862	7	91629984	T	G	663021	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5516	671863	7	91630001	G	C	662508	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5517	136347	7	91630620	G	T	140050	Benign/Likely_benign	Long_QT_syndrome|Colorectal_cancer|Long_QT_syn...	0.44047	0.3829	0.3722	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5518	136349	7	91632306	C	T	140052	Benign/Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_...	0.90635	0.89239	0.9359	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5519	136350	7	91641928	A	G	140053	Benign/Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_...	0.4418	0.38378	0.3738	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5520	671864	7	91643402	G	T	663007	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5521	682744	7	91645152	G	C	662510	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5522	671865	7	91645265	A	G	662514	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5523	671629	7	91645893	T	C	663025	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5524	671866	7	91646198	C	T	663027	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5525	190508	7	91652178	A	AAAC	188441	Benign/Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|not_spec...	0.47907	0.39892	0.42472	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5526	671867	7	91659150	C	G	663018	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5527	671868	7	91661111	G	C	663024	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5528	671869	7	91667692	T	G	662517	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5529	682746	7	91668365	G	A	662525	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5530	671870	7	91669808	G	A	663128	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5531	671871	7	91671853	C	A	663033	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5532	682749	7	91672403	G	A	663037	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5533	136331	7	91674302	G	A	140034	Benign	Long_QT_syndrome_11|not_specified	0.48316	0.39928	0.42851	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5534	682750	7	91674807	T	C	663032	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5535	677984	7	91681789	G	GA	662526	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5536	671872	7	91690457	A	G	663040	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5537	136333	7	91691601	C	T	140036	Benign/Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_...	0.42773	0.37946	0.35982	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5538	671873	7	91691946	G	T	662537	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5539	682752	7	91699779	G	A	663131	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5540	682753	7	91699907	A	C	662538	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5541	677811	7	91699980	C	T	663134	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5542	136335	7	91707197	C	T	140038	Benign/Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_...	0.42697	0.40765	0.36242	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5543	671874	7	91708219	T	C	662548	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5544	671885	7	91711791	A	G	663055	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5545	136340	7	91712698	A	G	140043	Benign/Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_...	0.35607	0.35934	0.29593	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5546	136341	7	91713972	C	T	140044	Benign/Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_...	0.44096	0.38317	0.3738	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5547	136342	7	91714911	C	T	140045	Benign/Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_...	0.99739	0.9962	0.9988	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5548	136343	7	91715662	C	T	140046	Benign/Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_...	0.35568	0.35888	0.29573	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5549	669435	7	91725694	G	C	663035	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5550	136344	7	91726927	A	C	140047	Benign/Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|Long_QT_...	0.44626	0.38459	0.3774	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5551	671886	7	91727385	G	A	662564	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5552	677812	7	91735299	A	G	663153	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5553	671003	7	91736464	T	G	663043	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5554	671887	7	91736794	T	A	663069	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5555	671888	7	91736874	A	G	663070	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5556	671889	7	91736921	C	T	663049	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5557	682754	7	91737057	T	C	663050	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5558	677167	7	91743150	A	G	655811	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5559	360872	7	91829671	A	AT	303560	Benign	Angiokeratoma_corporis_diffusum_with_arteriove...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5560	360922	7	92129161	CA	C	303594	Conflicting_interpretations_of_pathogenicity	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5561	93105	7	92131289	G	T	99012	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	0.93172	0.92182	0.94988	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5562	93112	7	92147584	C	T	99019	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	0.86468	0.87926	0.89397	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5563	17636	7	93055753	A	G	32675	risk_factor	Bone_mineral_density_quantitative_trait_locus_15	.	0.38003	0.54353	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5564	683354	7	94023646	C	A	663154	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5565	683355	7	94035892	C	T	663053	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5566	254957	7	94038934	C	T	252979	Benign	Ehlers-Danlos_syndrome,_procollagen_proteinase...	0.80993	0.78155	0.82808	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5567	254958	7	94039032	C	T	252980	Benign	Ehlers-Danlos_syndrome,_procollagen_proteinase...	0.80409	0.77422	0.82428	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5568	674811	7	94039900	C	T	663158	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5569	674812	7	94040133	T	A	663163	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5570	254952	7	94041937	A	C	252981	Benign	Ehlers-Danlos_syndrome,_procollagen_proteinase...	0.36106	.	0.32728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5571	254953	7	94043239	C	G	252982	Benign	Ehlers-Danlos_syndrome,_procollagen_proteinase...	0.79433	.	0.82169	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5572	683330	7	94044222	T	C	663176	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5573	674831	7	94052495	A	G	662589	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5574	674833	7	94056244	C	G	663080	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5575	360976	7	94059899	C	T	312030	Benign	Ehlers-Danlos_syndrome,_procollagen_proteinase...	.	.	0.22145	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5576	360983	7	94060359	A	AGTTGTCC	303655	Benign	Ehlers-Danlos_syndrome,_procollagen_proteinase...	.	.	0.78794	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5577	487363	7	94227276	T	G	480429	Benign	Myoclonic_dystonia	.	0.6954	0.76238	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5578	13735	7	94937446	T	C	28774	association,_risk_factor	Enzyme_activity_finding|Coronary_artery_diseas...	.	0.37705	0.54293	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5579	13736	7	94946084	A	T	28775	association,_risk_factor	Enzyme_activity_finding|Coronary_artery_diseas...	.	0.29127	0.18271	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5580	13737	7	94953895	G	A	28776	other	Enzyme_activity_finding	.	.	0.34904	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5581	402811	7	95668664	C	A	389826	Benign	not_specified	0.2249	0.19991	0.21186	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5582	402812	7	95709666	C	A	389761	Benign	not_specified	0.46248	0.48975	0.4365	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5583	683863	7	95820219	T	C	663105	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5584	260371	7	95864108	T	C	252989	Benign	Citrin_deficiency|Citrullinemia_type_I|not_spe...	0.68899	0.61792	0.60982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5585	667997	7	97488569	A	T	655822	Benign	Asparagine_synthetase_deficiency|not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5586	16916	7	99382096	C	T	31955	drug_response	CYP3A4_PROMOTER_POLYMORPHISM|Cyp3a4-v|tacrolim...	.	.	0.76917	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5587	678005	7	99701176	G	A	662419	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5588	678154	7	99703505	A	G	662448	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5589	21369	7	100225031	G	A	34221	Benign	Hereditary_hemochromatosis|Hemochromatosis_typ...	0.16306	0.24751	0.12999	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5590	16602	7	100317298	C	A	31641	risk_factor	Microvascular_complications_of_diabetes_2	.	.	0.67472	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5591	403615	7	100371473	C	T	389693	Benign	not_specified	.	0.51457	0.23702	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5592	403616	7	100371474	G	A	389793	Benign	not_specified	.	0.47243	0.44549	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5593	769334	7	100385561	GGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	G	699700	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5594	811000	7	100410597	G	A	799458	Benign	not_specified	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5595	811646	7	100411278	T	C	799459	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5596	811643	7	100416250	A	G	799464	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5597	358316	7	100781084	T	C	304468	Benign	Plasminogen_activator_inhibitor_type_1_deficiency	.	.	0.43091	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5598	358319	7	100781445	T	G	309196	Benign	Plasminogen_activator_inhibitor_type_1_deficiency	.	.	0.43051	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5599	358325	7	100781711	T	TCGCGCCCCC	309203	Benign	Plasminogen_activator_inhibitor_type_1_deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5600	358338	7	100782460	G	A	309223	Benign	Plasminogen_activator_inhibitor_type_1_deficiency	.	.	0.34165	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5601	48339	7	103053435	A	G	57501	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.39874	0.315	0.44269	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5602	358369	7	103112862	C	T	309106	Benign	Lissencephaly,_Recessive	.	.	0.9984	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5603	358373	7	103113192	C	T	301324	Likely_benign	Lissencephaly,_Recessive	.	.	0.02356	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5604	95209	7	103124207	T	C	101109	Benign	Lissencephaly_2|not_specified|Lissencephaly,_R...	0.17477	0.13892	0.23163	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5605	669141	7	103129951	A	G	662447	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5606	668966	7	103130805	A	G	662059	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5607	669140	7	103131495	A	C	662443	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5608	670928	7	103132208	G	A	662072	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5609	669139	7	103132671	A	T	662461	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5610	95234	7	103138517	C	G	101134	Benign	Lissencephaly_2|not_specified|Lissencephaly,_R...	0.99093	0.98696	0.99561	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5611	95231	7	103151436	T	C	101131	Benign/Likely_benign	Lissencephaly_2|not_specified|Lissencephaly,_R...	0.04759	0.04981	0.07808	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5612	668965	7	103151772	A	G	662462	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5613	95230	7	103155705	A	G	101130	Benign	Lissencephaly_2|not_specified|Lissencephaly,_R...	0.49546	0.47219	0.64836	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5614	669137	7	103162370	C	T	662451	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5615	669136	7	103162847	T	C	662477	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5616	684074	7	103163552	A	C	662456	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5617	684073	7	103164238	T	C	662080	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5618	259612	7	103175965	C	T	252553	Benign	not_specified|not_provided	0.75688	.	0.71026	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5619	669135	7	103176052	C	T	662466	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5620	669134	7	103191428	C	T	662464	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5621	684071	7	103193651	T	C	662468	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5622	669132	7	103201735	T	C	662484	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5623	259608	7	103207234	T	C	252557	Benign	not_specified	0.46732	0.4137	0.47364	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5624	669129	7	103207411	G	GAAGGAAA	662488	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5625	669128	7	103214940	T	C	662092	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5626	669119	7	103229849	T	C	662498	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5627	684067	7	103230541	A	C	662097	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5628	684064	7	103243492	T	C	662103	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5629	668948	7	103270088	T	A	662499	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5630	670968	7	103275803	T	C	662505	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5631	669112	7	103294305	T	C	662490	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5632	670722	7	103302279	C	G	662496	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5633	95224	7	103389954	A	G	101124	Benign	Lissencephaly_2|not_specified|Lissencephaly,_R...	0.51076	0.49602	0.46546	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5634	668946	7	103473658	C	T	662511	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5635	416378	7	105188996	G	A	395528	Benign	not_specified	0.02522	0.02737	0.01118	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5636	358437	7	106842683	A	ATCTT	309207	Likely_benign	Congenital_disorder_of_glycosylation	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5637	358442	7	106843133	G	C	309212	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.13019	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5638	358445	7	106843416	AT	A	301392	Likely_benign	Congenital_disorder_of_glycosylation	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5639	358458	7	106897237	A	C	304590	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.15893	0.1983	0.12979	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5640	380060	7	107002573	T	C	369409	Benign	not_specified	0.16246	0.22286	0.13558	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5641	95374	7	107002806	A	G	101273	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.6547	0.55077	0.64836	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5642	516397	7	107052927	AAC	A	502153	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5643	358473	7	107188719	G	T	309240	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.26565	0.26513	0.2488	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5644	379958	7	107198405	A	T	369124	Benign	not_specified	0.41335	0.42304	0.37999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5645	358515	7	107356759	G	A	304660	Likely_benign	Pendred_syndrome|Nonsyndromic_Hearing_Loss,_Re...	.	.	0.24141	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5646	358538	7	107414419	A	G	309313	Benign	Congenital_secretory_diarrhea,_chloride_type	0.99162	0.99357	0.998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5647	358545	7	107423254	C	T	309333	Benign	Congenital_secretory_diarrhea,_chloride_type	0.14232	0.15807	0.15096	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5648	683735	7	107544208	C	G	662116	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5649	137094	7	107545799	T	C	140797	Benign/Likely_benign	Maple_syrup_urine_disease|Leigh_syndrome|Pyruv...	0.64852	0.61818	0.71605	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5650	137102	7	107559722	A	T	140805	Benign	Maple_syrup_urine_disease|Leigh_syndrome|Pyruv...	0.29758	.	0.27576	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5651	358575	7	107559911	G	A	309370	Benign	Maple_syrup_urine_disease|Leigh_syndrome|Pyruv...	.	.	0.71066	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5652	358579	7	107560191	C	T	301488	Benign	Maple_syrup_urine_disease|Leigh_syndrome|Pyruv...	.	.	0.71446	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5653	358583	7	107560651	G	T	301489	Likely_benign	Maple_syrup_urine_disease|Leigh_syndrome|Pyruv...	.	.	0.27236	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5654	358584	7	107560682	T	C	304740	Benign	Maple_syrup_urine_disease|Leigh_syndrome|Pyruv...	.	.	0.71466	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5655	358588	7	107561155	T	C	301500	Benign	Maple_syrup_urine_disease|Leigh_syndrome|Pyruv...	.	.	0.71526	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5656	358589	7	107561392	G	A	301501	Likely_benign	Maple_syrup_urine_disease|Leigh_syndrome|Pyruv...	.	.	0.27217	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5657	358592	7	107561494	TTTTA	T	304744	Uncertain_significance	Maple_syrup_urine_disease|Leigh_syndrome|Pyruv...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5658	682993	7	107565007	A	C	662521	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5659	681226	7	107565138	C	T	662524	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5660	682982	7	107566430	A	G	662528	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5661	682981	7	107566488	G	T	662118	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5662	380841	7	107569517	A	G	368852	Benign	not_specified	0.45348	0.40556	0.43351	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5663	681244	7	107575557	G	A	662529	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5664	682979	7	107580839	A	G	662540	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5665	682978	7	107581035	A	G	662122	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5666	681225	7	107581115	C	G	662497	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5667	682977	7	107591914	A	G	662124	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5668	380837	7	107593989	T	C	369153	Benign	not_specified	0.65231	0.64469	0.69549	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5669	681233	7	107594549	G	A	662126	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5670	681223	7	107600558	C	T	662128	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5671	682976	7	107601523	T	C	662500	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5672	380838	7	107603431	A	C	370717	Benign	not_specified	0.30586	.	0.28574	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5673	682972	7	107604818	T	G	662546	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5674	681222	7	107605412	C	T	662531	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5675	682968	7	107613379	G	A	662544	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5676	682975	7	107615274	C	T	662551	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5677	380839	7	107615506	C	T	369160	Benign	not_specified	0.09488	0.10127	0.09724	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5678	682974	7	107616011	C	G	662556	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5679	682973	7	107616049	C	A	662135	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5680	682971	7	107616068	T	C	662519	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5681	682970	7	107616078	G	A	662558	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5682	682967	7	107618420	A	G	662561	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5683	681243	7	107626186	C	T	662563	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5684	380836	7	107626770	G	A	368881	Benign	not_specified	0.10726	0.11785	0.09125	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5685	682962	7	107626994	A	G	662520	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5686	682961	7	107635105	G	C	662565	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5687	682960	7	107643521	T	G	662569	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5688	8706	7	113518434	C	A	23745	risk_factor	Insulin_resistance,_susceptibility_to	.	0.21906	0.30871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5689	358653	7	114332234	A	T	304847	Benign	Speech-language_disorder_1	.	0.01422	0.00998	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5690	672478	7	116165360	A	C	662532	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5691	673350	7	116165463	T	C	662606	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5692	358681	7	116312582	G	T	304869	Uncertain_significance	Renal_cell_carcinoma,_papillary,_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5693	802347	7	116381121	G	GT	790675	Benign	Renal_cell_carcinoma,_papillary,_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5694	802351	7	116409675	CT	C	790679	Benign	Renal_cell_carcinoma,_papillary,_1	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5695	194024	7	116409690	TC	T	191187	Conflicting_interpretations_of_pathogenicity	Renal_cell_carcinoma,_papillary,_1|not_specifi...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5696	677866	7	116409950	T	C	662576	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5697	51029	7	117119337	T	G	65697	Likely_benign	Cystic_fibrosis|not_specified	.	.	0.0012	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5698	358760	7	120428607	G	A	304926	Benign	Familial_exudative_vitreoretinopathy	0.77176	0.80483	0.84625	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5699	260253	7	120428799	C	A	252574	Benign	Familial_exudative_vitreoretinopathy|not_speci...	0.77364	0.80322	0.85144	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5700	677020	7	124465097	A	T	662585	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5701	677019	7	124465509	A	C	662622	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5702	677017	7	124469267	A	T	662155	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5703	677016	7	124469587	G	A	662596	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5704	677015	7	124480869	T	C	662550	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5705	516586	7	124481245	G	A	501786	Benign	not_specified	0.38886	0.41138	0.41893	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5706	677014	7	124481403	T	A	662599	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5707	677013	7	124481420	T	A	662600	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5708	516585	7	124486980	T	C	501547	Benign	not_specified	0.71044	0.69502	0.72185	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5709	677012	7	124492038	T	C	662629	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5710	475094	7	124499002	AT	CA	457119	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5711	677011	7	124503196	C	T	662634	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5712	678869	7	124538615	C	T	662570	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5713	678868	7	124568710	A	G	662611	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5714	358778	7	127250597	G	A	304937	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	0.66913	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5715	358791	7	127250907	T	C	301741	Benign	Maturity_onset_diabetes_mellitus_in_young	.	0.76323	0.66933	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5716	129878	7	127251188	T	G	135324	Benign	Maturity_onset_diabetes_mellitus_in_young|not_...	0.76892	0.75781	0.67053	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5717	129876	7	127253898	G	A	135322	Benign/Likely_benign	Maturity_onset_diabetes_mellitus_in_young|not_...	0.05213	0.04513	0.01777	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5718	369576	7	127255795	C	G	353805	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	0.60244	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5719	778362	7	127892146	A	G	699807	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5720	358839	7	127896536	A	G	301816	Benign	Leptin_deficiency_or_dysfunction|Monogenic_Non...	.	.	0.94768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5721	358842	7	127897021	G	A	304954	Likely_benign	Leptin_deficiency_or_dysfunction|Monogenic_Non...	.	.	0.11861	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5722	358845	7	127897069	C	A	309786	Likely_benign	Leptin_deficiency_or_dysfunction|Monogenic_Non...	.	.	0.46006	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5723	772900	7	127983761	C	T	699809	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5724	358876	7	128038555	C	G	309824	Likely_benign	Leber_congenital_amaurosis|Retinitis_Pigmentos...	0.13886	0.16094	0.13019	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5725	768200	7	128140982	T	C	699817	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5726	679871	7	128470376	C	T	662641	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5727	680197	7	128470462	C	A	662171	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5728	680198	7	128470482	G	A	662173	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5729	129081	7	128470838	C	T	134527	Benign	not_specified|not_provided	0.09374	0.09446	0.11002	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5730	680200	7	128481857	A	T	662181	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5731	680201	7	128485850	T	G	662620	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5732	226641	7	128487866	T	C	229552	Benign	not_specified	0.99125	0.99731	0.99062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5733	3396	7	128578301	G	T	18435	Pathogenic,_risk_factor	Rheumatoid_arthritis|Systemic_lupus_erythemato...	.	.	0.41354	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5734	768201	7	128587351	CACTCTGCAGCCGCCCACTCTGCGGCCGCCT	C	699841	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5735	3397	7	128589427	G	A	18436	risk_factor	Systemic_lupus_erythematosus_10	.	.	0.53594	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5736	670796	7	128597587	T	G	662623	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5737	260265	7	128607384	G	A	252607	Benign	not_specified	0.51061	0.4779	0.47684	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5738	670783	7	128619415	T	A	662691	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5739	670239	7	128630227	C	T	662651	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5740	670777	7	128630313	T	C	662655	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5741	670782	7	128633722	T	C	662203	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5742	668976	7	128640188	A	G	662650	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5743	670775	7	128640293	C	T	662653	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5744	670773	7	128640334	A	T	662206	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5745	260268	7	128641226	G	C	252612	Benign	not_specified	0.3716	0.40972	0.34185	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5746	670772	7	128644857	C	T	662657	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5747	670778	7	128645292	A	C	662208	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5748	668974	7	128645513	T	C	662692	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5749	670776	7	128654840	T	A	662654	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5750	670770	7	128655434	A	AT	662662	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5751	670768	7	128656831	C	T	662694	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5752	670753	7	128657277	T	C	662661	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5753	670752	7	128694976	C	T	655780	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5754	679866	7	128695279	A	G	662664	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5755	403462	7	128846328	G	C	389787	Benign	not_specified	0.78964	0.79749	0.75619	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5756	258474	7	130021488	G	C	252615	Benign	not_specified	0.55068	.	0.58227	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5757	358883	7	130033630	C	T	301846	Benign	Joubert_syndrome	.	0.53683	0.55531	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5758	358896	7	130034437	C	G	309694	Benign	Joubert_syndrome	.	0.33946	0.34944	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5759	358899	7	130034695	T	C	309860	Likely_benign	Joubert_syndrome	.	0.20622	0.23403	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5760	358905	7	130035205	G	GA	301897	Benign	Joubert_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5761	261053	7	130080812	T	G	252622	Benign	Joubert_syndrome|not_specified	0.37137	0.44928	0.47863	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5762	703788	7	136701308	T	A	692161	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5763	259891	7	137801413	A	C	252626	Benign	not_specified|Congenital_Bile_Acid_Synthesis_D...	0.82239	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5764	358956	7	137801444	C	T	305060	Benign	Congenital_Bile_Acid_Synthesis_Defect	0.81739	0.77813	0.77796	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5765	358962	7	137801770	A	C	309898	Likely_benign	Congenital_Bile_Acid_Synthesis_Defect	.	.	0.18171	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5766	358965	7	137801915	G	A	305064	Benign	Congenital_Bile_Acid_Synthesis_Defect	.	.	0.77895	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5767	740628	7	138333819	C	T	750441	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5768	358999	7	138391130	C	T	309792	Benign	Distal_Renal_Tubular_Acidosis,_Recessive	.	.	0.20707	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5769	359000	7	138391207	G	A	309812	Likely_benign	Distal_Renal_Tubular_Acidosis,_Recessive	.	.	0.05132	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5770	261343	7	138417718	A	G	252628	Benign	not_specified|Distal_Renal_Tubular_Acidosis,_R...	0.63309	0.71972	0.67752	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5771	261342	7	138418910	G	A	252629	Benign	not_specified|Distal_Renal_Tubular_Acidosis,_R...	0.68322	0.72671	0.71665	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5772	261345	7	138455988	A	G	252632	Benign	not_specified|Distal_Renal_Tubular_Acidosis,_R...	0.7322	0.70398	0.67951	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5773	359047	7	140434597	G	GA	302001	Uncertain_significance	Noonan_syndrome|Noonan_syndrome_with_multiple_...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5774	768208	7	141796131	G	A	699893	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5775	258803	7	142460865	T	C	252642	Benign/Likely_benign	not_specified	.	0.50407	0.39377	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5776	768210	7	142583330	A	C	699898	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5777	679149	7	143013171	T	G	662683	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5778	359094	7	143016928	C	T	302026	Benign	Myotonia_congenita|not_specified	0.40797	.	0.32288	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5779	802378	7	143017807	G	T	790706	Benign	Congenital_myotonia,_autosomal_recessive_form	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5780	679150	7	143017960	C	G	662687	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5781	679151	7	143020625	T	C	662722	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5782	679908	7	143020649	G	A	662215	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5783	679909	7	143028536	G	A	662695	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5784	679910	7	143029371	G	T	662702	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5785	289007	7	143029983	T	C	273244	Benign	not_specified	0.13748	0.14641	0.09245	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5786	679912	7	143030146	C	A	662707	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5787	359111	7	143036337	C	T	305233	Benign	Myotonia_congenita|Congenital_myotonia,_autoso...	0.4724	0.4108	0.41434	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5788	680142	7	143039780	G	A	662718	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5789	668095	7	143042321	C	A	662742	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5790	680143	7	143042552	G	A	662724	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5791	359118	7	143042837	C	T	310073	Benign	Myotonia_congenita	0.39901	0.53969	0.47824	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5792	359119	7	143043240	C	T	302046	Benign	Myotonia_congenita|not_specified	0.42327	0.39742	0.36941	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5793	718475	7	143094390	G	A	730472	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5794	359135	7	144094613	G	T	302073	Likely_benign	Premature_ovarian_failure	.	0.21541	0.10563	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5795	286525	7	144095600	A	G	270762	Benign	Premature_ovarian_failure|not_specified	.	0.6807	0.69629	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5796	138535	7	144096068	C	T	142238	Benign	Premature_ovarian_failure|not_specified	0.17761	0.26361	0.16214	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5797	359144	7	144096839	A	G	305256	Benign	Premature_ovarian_failure	0.59957	0.6757	0.70627	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5798	359152	7	144098992	G	A	310019	Benign	Premature_ovarian_failure	0.6005	0.63118	0.70627	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5799	138536	7	144107279	A	G	142239	Benign/Likely_benign	Premature_ovarian_failure|not_specified	0.12688	0.22857	0.10503	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5800	673728	7	144150996	T	G	662740	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5801	359171	7	145813854	G	A	305281	Benign	Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like...	.	.	0.51198	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5802	5492	7	146489606	A	T	20531	risk_factor	Autism_15	.	.	0.50539	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5803	672545	7	146805118	G	C	662227	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5804	668785	7	146817813	C	A	662758	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5805	679929	7	146826061	A	G	662775	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5806	676748	7	146997498	A	AAAAC	662778	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5807	668787	7	147258966	A	C	662803	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5808	679930	7	147258991	A	G	662730	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5809	679932	7	147259105	G	A	662780	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5810	670632	7	147259374	A	G	662804	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5811	670633	7	147259438	A	G	662784	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5812	679927	7	147259551	C	T	662735	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5813	5491	7	147574390	A	G	20530	risk_factor	Autism_15	.	.	0.58866	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5814	668101	7	147914885	T	G	662761	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5815	95567	7	147926888	A	C	101465	Benign	not_specified	0.4165	0.37547	0.36022	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5816	679936	7	147964377	A	G	662808	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5817	668102	7	148080463	C	T	662269	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5818	679931	7	148080499	T	C	662809	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5819	679933	7	148080597	C	T	662764	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5820	670650	7	148080647	T	G	662814	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5821	95573	7	148106490	G	A	101471	Benign	History_of_neurodevelopmental_disorder|Pitt-Ho...	0.58504	0.54066	0.54912	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5822	670918	7	148106651	G	A	662765	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5823	668103	7	148112234	T	C	662770	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5824	670851	7	148112448	A	T	662822	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5825	359199	7	148112872	C	CA	305292	Benign	Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like...	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5826	359202	7	148112987	C	A	310071	Benign	Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like...	.	.	0.66074	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5827	359208	7	148113623	ATAGTT	A	310185	Benign	Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5828	359241	7	148115638	GAA	G	305319	Benign	Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5829	359261	7	148116692	A	AT	310143	Benign	Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5830	359271	7	148117505	G	C	302173	Benign	Pitt-Hopkins-like_syndrome_1|Pitt-Hopkins-like...	.	.	0.79353	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5831	259400	7	148504716	AG	A	252646	Benign	Weaver_syndrome|not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5832	680130	7	148504854	A	AGACTT	662829	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5833	680128	7	148506064	A	G	662836	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5834	680126	7	148508481	A	G	662843	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5835	670472	7	148508833	A	G	662278	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5836	670931	7	148543525	A	G	662779	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5837	210966	7	148543693	TA	T	207472	Benign	Weaver_syndrome|not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5838	681701	7	148543753	C	T	662853	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5839	671950	7	150645682	G	A	662287	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5840	200230	7	150648198	A	G	197235	Benign/Likely_benign	Arrhythmia|Long_QT_syndrome|not_specified|Card...	0.69045	0.66584	0.77217	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5841	200228	7	150648789	T	C	197263	Benign/Likely_benign	Arrhythmia|Long_QT_syndrome|not_specified|Card...	0.48939	0.47859	0.60843	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5842	36428	7	150649531	G	A	45091	Benign/Likely_benign	Arrhythmia|Long_QT_syndrome|Cardiac_arrhythmia...	0.22636	0.29345	0.34165	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5843	255614	7	150649603	G	A	252648	Benign/Likely_benign	Arrhythmia|Long_QT_syndrome|not_specified|Card...	0.2302	.	0.34265	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5844	671949	7	150652286	C	G	662883	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5845	678032	7	150654820	T	C	662292	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5846	671895	7	150672162	T	TC	662298	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5847	517660	7	150690079	C	T	508751	protective	Metabolic_syndrome,_susceptibility_to	.	.	0.76558	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5848	403248	7	150695726	T	C	389810	Benign	not_specified	0.75539	0.77013	0.81769	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5849	14015	7	150696111	T	G	29054	Benign	Ischemic_heart_disease,_susceptibility_to|Isch...	.	0.75302	0.82368	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5850	403250	7	150708089	A	G	389797	Benign	not_specified	0.83923	0.84408	0.88838	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5851	403251	7	150709571	G	T	389815	Benign	not_specified	0.28845	0.3779	0.36182	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5852	667623	7	150878260	C	G	655788	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5853	402398	7	150884266	C	CAG	390498	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5854	359320	7	151253226	C	T	302196	Likely_benign	Wolff-Parkinson-White_syndrome|Glycogen_storag...	.	.	0.55391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5855	359322	7	151253246	G	GA	302204	Uncertain_significance	Wolff-Parkinson-White_syndrome|Glycogen_storag...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5856	359335	7	151253765	C	A	305426	Likely_benign	Wolff-Parkinson-White_syndrome|Glycogen_storag...	.	.	0.54992	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5857	359342	7	151254175	T	C	302216	Likely_benign	Wolff-Parkinson-White_syndrome|Glycogen_storag...	.	.	0.55431	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5858	683629	7	151254576	T	C	662787	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5859	260694	7	151267353	G	A	252649	Benign	not_specified	0.0831	0.14304	0.14417	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5860	674539	7	151269916	C	T	662896	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5861	260697	7	151292395	A	AT	252652	Likely_benign	not_specified	0.7069	0.76467	0.80471	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5862	683712	7	151483896	C	G	662322	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5863	260692	7	151573731	G	A	252655	Benign/Likely_benign	Wolff-Parkinson-White_syndrome|Glycogen_storag...	0.12927	0.17431	0.1889	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5864	226011	7	154072020	T	C	227765	drug_response	antipsychotics_response_-_Toxicity/ADR	.	.	0.57728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5865	16631	7	155253993	G	A	31670	Uncertain_significance	Autism_10	.	.	0.75739	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5866	16632	7	155254145	T	C	31671	Uncertain_significance	Autism_10	.	.	0.75899	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5867	667597	7	155598666	T	C	662812	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5868	669661	7	155598671	C	A	662863	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5869	675003	7	155598879	A	C	662864	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5870	255495	7	155599300	C	T	252656	Benign	not_specified	0.45208	0.58229	0.47504	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5871	359404	7	156475447	G	A	310280	Benign	Triphalangeal_thumb_polysyndactyly_syndrome	.	.	0.19669	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5872	359410	7	156476389	A	G	310399	Benign	Triphalangeal_thumb_polysyndactyly_syndrome	.	.	0.19848	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5873	359418	7	156476683	T	A	310406	Benign	Triphalangeal_thumb_polysyndactyly_syndrome	.	.	0.09225	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5874	669009	7	156584063	G	C	662907	Benign/Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5875	768220	7	156584567	G	C	699961	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5876	679305	7	157202282	T	A	662349	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5877	668118	7	157208458	C	T	662357	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5878	679296	7	157208617	C	T	662888	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5879	359472	7	157209491	T	C	302331	Benign	Limb-Girdle_Muscular_Dystrophy,_Dominant|Myofi...	.	.	0.98163	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5880	359474	7	157209551	C	T	310367	Benign	Limb-Girdle_Muscular_Dystrophy,_Dominant|Myofi...	.	.	0.36082	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5881	516235	7	158664253	G	A	502043	Benign	not_specified	0.05208	0.05795	0.06669	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5882	516204	7	158672476	C	G	502324	Benign	Short-rib_thoracic_dysplasia_8_with_or_without...	0.99096	0.99196	0.99581	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5883	516219	7	158672619	A	G	501998	Benign	not_specified	0.45703	0.44104	0.57368	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5884	516205	7	158715219	A	G	501695	Benign	not_specified	0.84923	0.84191	0.88618	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5885	516206	7	158719084	C	T	502000	Benign	not_specified	0.76274	0.79308	0.78055	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5886	516225	7	158734813	C	T	502053	Benign	not_specified	0.16724	.	0.11282	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5887	679917	8	1728292	T	C	662767	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5888	518390	8	1830928	A	G	508830	Benign	Slowed_nerve_conduction_velocity,_autosomal_do...	0.62841	0.66578	0.74241	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5889	618536	8	1833801	G	C	609686	Benign	Charcot-Marie-Tooth_disease|Slowed_nerve_condu...	0.1081	0.15937	0.16833	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5890	518392	8	1900855	A	G	508832	Benign	Slowed_nerve_conduction_velocity,_autosomal_do...	0.93058	0.94906	0.94948	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5891	363515	8	6264130	G	C	314971	Benign	Primary_Microcephaly,_Recessive	0.67266	.	0.53874	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5892	158854	8	6266774	G	A	168641	Likely_benign	not_specified	0.3269	0.25536	0.37201	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5893	670445	8	6272185	G	T	662866	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5894	670446	8	6272477	A	G	663359	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5895	670447	8	6272481	C	G	663364	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5896	683148	8	6272532	T	A	662867	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5897	683150	8	6272543	A	C	663368	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5898	158879	8	6302154	G	T	168657	Benign/Likely_benign	Primary_autosomal_recessive_microcephaly_1|not...	0.11818	0.11533	0.07029	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5899	96126	8	6302418	A	G	102020	Benign	Primary_autosomal_recessive_microcephaly_1|not...	0.99266	0.99798	0.99441	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5900	683151	8	6312880	C	T	663363	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5901	158834	8	6338306	C	A	168676	Benign/Likely_benign	not_specified|Primary_Microcephaly,_Recessive	0.13297	.	0.14637	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5902	684323	8	6338689	G	A	663369	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5903	158837	8	6377433	C	T	168680	Likely_benign	not_specified	0.24381	0.26481	0.14976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5904	158838	8	6378763	C	T	168681	Likely_benign	not_specified	0.36529	0.34491	0.3097	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5905	158839	8	6389889	C	A	168682	Likely_benign	not_specified	0.42734	.	0.28974	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5906	361187	8	10463944	A	C	312241	Benign	Occult_macular_dystrophy	.	.	0.5605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5907	361200	8	10464307	G	A	312140	Benign	Occult_macular_dystrophy	.	.	0.46625	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5908	361207	8	10464616	G	A	307279	Likely_benign	Occult_macular_dystrophy	0.0033	0.00147	0.0004	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5909	361209	8	10464755	C	T	312150	Benign	Occult_macular_dystrophy	0.37674	0.47024	0.47205	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5910	361212	8	10464885	T	C	312151	Benign	Occult_macular_dystrophy	0.52271	0.60941	0.65096	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5911	361222	8	10465097	C	T	312285	Benign	Occult_macular_dystrophy	0.44608	0.37815	0.3121	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5912	361235	8	10465748	T	C	312170	Benign	Occult_macular_dystrophy	0.52186	0.60707	0.64936	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5913	361236	8	10465771	G	T	312296	Benign	Occult_macular_dystrophy	0.92405	0.94941	0.91973	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5914	361242	8	10465942	T	A	307332	Benign	Occult_macular_dystrophy	0.19618	0.25007	0.23742	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5915	361259	8	10466482	G	A	312214	Benign	Occult_macular_dystrophy	0.44982	0.38257	0.3107	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5916	361276	8	10467124	G	C	312243	Benign	Occult_macular_dystrophy	0.24391	0.29447	0.28175	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5917	361282	8	10467207	C	A	303830	Benign	Occult_macular_dystrophy	0.95158	0.98196	0.9409	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5918	361309	8	10468172	G	A	312322	Benign	Occult_macular_dystrophy	0.70705	0.73087	0.70807	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5919	361349	8	10469233	A	G	312440	Benign	Occult_macular_dystrophy	0.47706	0.42352	0.3149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5920	361367	8	10469817	G	A	307405	Benign	Occult_macular_dystrophy	0.84621	0.84465	0.79732	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5921	361372	8	10470068	C	T	303896	Benign	Occult_macular_dystrophy	0.44802	0.39123	0.29473	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5922	361437	8	10512511	G	C	307484	Benign	Occult_macular_dystrophy	.	.	0.48982	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5923	361468	8	11351912	C	T	312558	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	0.42572	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5924	361471	8	11352056	A	G	307514	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	0.82368	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5925	12319	8	11405576	G	A	27358	Conflicting_interpretations_of_pathogenicity	Maturity_onset_diabetes_mellitus_in_young|Matu...	0.0153	0.01171	0.01238	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5926	128527	8	11406593	T	C	133976	Benign	Maturity_onset_diabetes_mellitus_in_young|not_...	0.50969	0.483	0.41693	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5927	128529	8	11414237	T	C	133978	Benign	Maturity_onset_diabetes_mellitus_in_young|not_...	0.81247	0.83167	0.82768	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5928	361498	8	11421709	G	C	304030	Likely_benign	Maturity_onset_diabetes_mellitus_in_young	.	.	0.05012	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5929	361500	8	11421793	C	T	304039	Benign	Maturity_onset_diabetes_mellitus_in_young	.	0.49323	0.55711	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5930	12320	8	11421955	T	G	27359	Likely_benign	Maturity_onset_diabetes_mellitus_in_young|Matu...	.	0.01147	0.00399	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5931	12321	8	11430641	C	T	27360	Conflicting_interpretations_of_pathogenicity	Maturity-onset_diabetes_of_the_young,_type_11	.	.	0.0645	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5932	433016	8	11606312	T	C	426523	Conflicting_interpretations_of_pathogenicity	Congenital_heart_disease	.	.	0.87161	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5933	139596	8	11612698	C	A	143221	Conflicting_interpretations_of_pathogenicity	Congenital_heart_disease|not_provided	0.59396	.	0.73443	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5934	433015	8	11615695	A	G	426531	Conflicting_interpretations_of_pathogenicity	Congenital_heart_disease	.	.	0.27017	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5935	139593	8	11616338	A	C	143218	Uncertain_significance	not_provided	.	.	0.36142	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5936	139594	8	11616410	C	T	143219	Uncertain_significance	not_provided	.	.	0.22724	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5937	433026	8	11617240	A	T	426534	Conflicting_interpretations_of_pathogenicity	Congenital_heart_disease	.	.	0.39996	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5938	95430	8	15508200	T	C	101329	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.30717	0.33798	0.29313	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5939	362319	8	15622454	C	T	313481	Benign	Congenital_disorder_of_glycosylation	.	.	0.74421	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5940	362320	8	15622519	T	C	313572	Benign	Congenital_disorder_of_glycosylation	.	.	0.75459	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5941	362328	8	15622858	A	G	304690	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.21326	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5942	14357	8	16012594	G	A	29396	Conflicting_interpretations_of_pathogenicity	Malignant_tumor_of_prostate|Hereditary_cancer-...	.	.	0.00539	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5943	670833	8	17137687	G	A	662763	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5944	362350	8	17913970	G	A	313506	Benign	Farber_disease	.	.	0.71725	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5945	362355	8	17914305	G	C	313616	Benign	Farber_disease	.	.	0.27556	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5946	362356	8	17914314	A	G	313621	Benign	Farber_disease	.	.	0.27995	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5947	362357	8	17914331	ACTTC	A	313622	Benign	Farber_disease	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5948	362358	8	17914348	G	A	304724	Likely_benign	Farber_disease	.	.	0.07967	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5949	362359	8	17914356	G	C	304726	Benign	Farber_disease	.	.	0.27496	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5950	362364	8	17914709	C	T	308429	Likely_benign	Farber_disease	.	.	0.02835	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5951	362365	8	17914799	G	A	304732	Likely_benign	Farber_disease	.	.	0.10623	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5952	362367	8	17914859	A	T	304736	Likely_benign	Farber_disease	.	.	0.10603	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5953	362372	8	17914919	A	T	304751	Benign	Farber_disease	.	.	0.36422	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5954	678049	8	17916224	A	C	663331	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5955	678048	8	17916553	C	T	663292	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5956	259283	8	17918934	A	G	253089	Benign	Farber_disease|not_specified|not_provided	0.8666	0.94309	0.85024	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5957	362381	8	17924739	A	T	304754	Benign/Likely_benign	Farber_disease|not_specified|not_provided	0.03437	0.0422	0.02276	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5958	259280	8	17924849	C	T	253092	Benign	not_specified	0.22637	0.42155	0.39297	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5959	678046	8	17927061	G	T	663336	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5960	678045	8	17927082	T	C	662774	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5961	678030	8	17927184	A	G	663339	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5962	678029	8	17927248	A	C	663306	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5963	558958	8	17927280	G	T	549640	Benign	not_provided	0.34859	0.41308	0.33906	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5964	197388	8	17927294	C	T	194549	Benign	Farber_disease|not_specified|not_provided	0.42017	0.47781	0.41993	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5965	197389	8	17927327	T	C	194550	Benign	Farber_disease|not_specified|not_provided	0.42163	0.47965	0.42053	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5966	678028	8	17927516	A	G	663312	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5967	678027	8	17927634	T	C	663341	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5968	678026	8	17928626	A	G	662793	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5969	259279	8	17928762	T	TATA	253093	Likely_benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5970	259278	8	17928811	C	T	253094	Benign	Farber_disease|not_specified|not_provided	0.42427	0.53855	0.42053	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5971	259277	8	17928920	T	C	253095	Benign	not_specified|not_provided	0.42379	0.52437	0.42033	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5972	678025	8	17928999	G	A	663351	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5973	678024	8	17930605	A	C	663366	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5974	678023	8	17930727	G	A	663319	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5975	678022	8	17930734	C	A	662813	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5976	402397	8	17930772	C	T	389782	Benign	not_specified|not_provided	0.42394	0.46507	0.41354	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5977	678021	8	17930999	A	G	662821	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5978	672022	8	17931091	C	T	663322	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5979	259275	8	17933099	G	A	253096	Benign/Likely_benign	Farber_disease|not_specified|not_provided	0.10772	0.10638	0.11002	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5980	259276	8	17933146	C	T	253097	Benign	not_specified	0.10226	.	0.10623	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5981	362390	8	17941668	C	T	308432	Uncertain_significance	Farber_disease	.	.	0.00699	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5982	558961	8	17942332	A	G	549643	Benign	not_provided	0.03406	0.04215	0.02476	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5983	17808	8	18080001	G	A	32847	Benign	NAT1*17_ALLELE|not_specified	.	0.0209	0.01697	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5984	375653	8	18257795	C	T	362499	drug_response	ethambutol,_isoniazid,_pyrazinamide,_and_rifam...	0.35737	0.34489	0.39736	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5985	722	8	18258103	G	A	15761	drug_response	Slow_acetylator_due_to_N-acetyltransferase_enz...	.	0.27727	0.26498	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5986	1550	8	19813529	A	G	16589	Conflicting_interpretations_of_pathogenicity	Hyperlipidemia,_familial_combined,_susceptibil...	.	0.01336	0.00519	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5987	1559	8	19819439	A	G	16598	association	High_density_lipoprotein_cholesterol_level_qua...	.	.	0.34944	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5988	1534	8	19819724	C	G	16573	Likely_benign	LIPOPROTEIN_LIPASE_POLYMORPHISM|Hyperlipoprote...	.	0.0935	0.09245	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5989	362430	8	19823648	A	T	308459	Benign	Hyperlipoproteinemia,_type_I	.	.	0.33746	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5990	362432	8	19823674	C	T	313618	Likely_benign	Hyperlipoproteinemia,_type_I	.	.	0.09125	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5991	362440	8	19824045	C	A	308491	Likely_benign	Hyperlipoproteinemia,_type_I	.	.	0.09026	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5992	40131	8	19824492	T	C	48634	Benign	Hyperlipoproteinemia,_type_I|High_density_lipo...	.	.	0.33486	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5993	362448	8	19824563	T	C	308525	Likely_benign	Hyperlipoproteinemia,_type_I	.	.	0.1276	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5994	362450	8	19824626	C	CTT	313721	Likely_benign	Hyperlipoproteinemia,_type_I	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5995	362452	8	19824667	C	T	313723	Benign	Hyperlipoproteinemia,_type_I	.	.	0.33307	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5996	362455	8	21971961	T	TA	313665	Benign	Alopecia_universalis|Atrichia_with_papular_les...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5997	362466	8	21972973	G	T	304810	Benign	Alopecia_universalis|Atrichia_with_papular_les...	.	.	0.35663	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5998	362521	8	21984650	A	G	304851	Benign	Alopecia_universalis|Atrichia_with_papular_les...	0.6518	0.61231	0.57927	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
5999	362525	8	21984945	C	T	313732	Benign	Alopecia_universalis|Atrichia_with_papular_les...	0.28068	0.32049	0.29633	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6000	362542	8	21988515	A	C	308587	Benign	Alopecia_universalis|Atrichia_with_papular_les...	.	.	0.60823	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6001	362569	8	22021933	C	T	313869	Benign/Likely_benign	Idiopathic_fibrosing_alveolitis,_chronic_form|...	.	0.20598	0.10443	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6002	362572	8	22022655	CGGAG	C	313871	Uncertain_significance	Osteogenesis_Imperfecta,_Recessive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6003	362573	8	22022749	A	G	313878	Benign	Idiopathic_fibrosing_alveolitis,_chronic_form|...	.	.	0.74141	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6004	680492	8	22038144	G	C	663373	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6005	674968	8	22053123	T	C	663375	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6006	362592	8	22059363	G	A	313894	Benign/Likely_benign	not_specified|Osteogenesis_Imperfecta,_Recessive	0.07675	0.05025	0.05032	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6007	675091	8	22059520	A	G	663378	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6008	680516	8	22059606	G	A	663327	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6009	680493	8	22065179	A	G	663330	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6010	674720	8	22066855	C	T	663340	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6011	675150	8	22069018	C	T	663381	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6012	362607	8	22069386	T	C	308665	Likely_benign	Osteogenesis_Imperfecta,_Recessive	.	.	0.13399	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6013	768230	8	22262228	AGCTGCT	A	700522	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6014	720868	8	22428590	G	A	723003	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6015	162169	8	23082971	G	T	171882	not_provided	not_provided	.	.	0.40076	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6016	362624	8	24809067	C	T	304973	Benign	Charcot-Marie-Tooth_disease,_type_I	.	.	0.71965	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6017	362632	8	24809636	C	G	304991	Benign	Charcot-Marie-Tooth_disease,_type_I	.	.	0.54273	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6018	362641	8	24810088	T	A	305005	Benign	Charcot-Marie-Tooth_disease,_type_I	.	.	0.72085	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6019	694999	8	24811064	AG	A	683010	Uncertain_significance	Charcot-Marie-Tooth_disease	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6020	670555	8	24814205	G	T	662832	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6021	667514	8	24814403	T	C	663383	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6022	362657	8	25281329	A	G	308710	Uncertain_significance	Isolated_GnRH_Deficiency	.	.	0.01997	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6023	362664	8	27317337	A	G	308736	Benign	Nocturnal_frontal_lobe_epilepsy	.	.	0.80571	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6024	362665	8	27317445	G	T	308738	Benign	Nocturnal_frontal_lobe_epilepsy	.	.	0.40515	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6025	362673	8	27317987	A	G	313911	Benign	Nocturnal_frontal_lobe_epilepsy	.	.	0.36542	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6026	362682	8	27318391	C	T	313924	Benign	Nocturnal_frontal_lobe_epilepsy	.	.	0.36142	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6027	362683	8	27318425	C	A	313926	Benign	Nocturnal_frontal_lobe_epilepsy	.	.	0.35903	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6028	362685	8	27318544	A	G	313972	Benign	Nocturnal_frontal_lobe_epilepsy	.	.	0.78674	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6029	362686	8	27318635	C	G	313930	Benign	Nocturnal_frontal_lobe_epilepsy	.	.	0.78195	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6030	670757	8	27321597	G	C	662838	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6031	668090	8	27327841	C	G	663394	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6032	679135	8	27328354	G	C	663396	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6033	362716	8	27336767	A	T	314020	Benign	Nocturnal_frontal_lobe_epilepsy	.	.	0.10663	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6034	16603	8	27373865	G	A	31642	risk_factor	Familial_hypercholesterolemia_1	.	0.11532	0.12959	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6035	516218	8	27632143	C	T	502718	Benign	not_specified	.	.	0.46665	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6036	257053	8	27641609	G	A	253100	Benign	not_specified	0.97601	0.99332	0.97784	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6037	439766	8	30554006	G	A	433599	Benign	not_specified	0.40512	0.44941	0.42392	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6038	130763	8	30924557	C	T	136209	Benign	Werner_syndrome|not_specified|not_provided	0.6537	0.70318	0.6873	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6039	130757	8	30938704	G	A	136203	Benign/Likely_benign	Werner_syndrome|not_specified|not_provided	0.05751	0.07523	0.04692	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6040	256707	8	30958353	CT	C	253104	Benign/Likely_benign	Werner_syndrome|not_specified|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6041	130754	8	30999122	C	T	136200	Benign	Werner_syndrome|not_specified|not_provided	0.38659	0.47043	0.375	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6042	130761	8	31024638	C	T	136207	Benign/Likely_benign	Werner_syndrome|not_specified|not_provided	0.2821	0.29891	0.27356	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6043	130762	8	31024654	T	C	136208	Benign/Likely_benign	Werner_syndrome|not_specified|not_provided	0.22736	0.24164	0.19269	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6044	732415	8	36780142	G	A	736637	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6045	679568	8	37606963	C	T	663338	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6046	362826	8	38000267	T	C	314123	Benign	Congenital_adrenal_hyperplasia	.	.	0.55052	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6047	448532	8	38003787	T	C	441233	Benign	not_specified	0.97647	0.97958	0.96566	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6048	362920	8	38326161	G	A	314238	Benign	Craniosynostosis|Hypogonadism_with_anosmia|Pfe...	.	.	0.95687	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6049	259175	8	38884342	G	GTTCT	253109	Benign	not_specified|Cone-Rod_Dystrophy,_Recessive	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6050	362954	8	41511157	A	C	309065	Likely_benign	Spherocytosis,_Dominant	.	.	0.98602	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6051	261317	8	41519462	A	G	253111	Benign/Likely_benign	Spherocytosis_type_1|not_specified|Spherocytos...	0.74989	0.78047	0.78634	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6052	261316	8	41525914	C	T	253112	Benign/Likely_benign	Spherocytosis_type_1|not_specified|Spherocytos...	0.2312	0.21339	0.19469	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6053	261315	8	41529856	A	G	253113	Benign	Spherocytosis_type_1|not_specified	0.97232	.	0.97764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6054	261301	8	41553928	C	G	253125	Benign/Likely_benign	Spherocytosis_type_1|not_specified|Spherocytos...	0.36285	.	0.40715	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6055	261319	8	41583294	C	T	253139	Benign/Likely_benign	not_specified|Spherocytosis,_Dominant	0.10208	0.1382	0.10503	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6056	587815	8	41794934	C	T	579425	Benign	History_of_neurodevelopmental_disorder	0.30055	0.20521	0.20947	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6057	402969	8	42175303	A	T	389785	Benign	not_specified	0.75342	0.85321	0.69529	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6058	363099	8	42397004	C	T	305384	Benign	Idiopathic_basal_ganglia_calcification_1	.	.	0.69369	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6059	363113	8	42692419	T	C	309195	Likely_benign	Dystonia	.	.	0.01857	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6060	684160	8	43024625	T	G	663400	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6061	684171	8	43046395	G	A	663401	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6062	684173	8	43047156	G	C	663358	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6063	96501	8	43047593	G	A	102395	Benign	Mucopolysaccharidosis,_MPS-III-C|not_specified...	0.24897	0.3072	0.22524	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6064	96503	8	43054553	T	C	102397	Benign	Sanfilippo_syndrome|Mucopolysaccharidosis,_MPS...	0.99066	0.9974	0.99161	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6065	363174	8	43056513	T	C	305420	Benign	Sanfilippo_syndrome	.	.	0.82189	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6066	379395	8	48846519	T	C	371924	Benign	not_specified	0.96227	0.95985	0.98363	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6067	363238	8	48885436	T	A	314652	Benign	Natural_killer_cell_and_glucocorticoid_deficie...	0.87298	0.86686	0.91414	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6068	403354	8	52284654	C	CAA,CA	390587	Benign	not_specified	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6069	403355	8	52321238	G	A	389834	Benign	not_specified	0.01089	0.01128	0.00579	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6070	403356	8	52321243	T	C	389843	Benign	not_specified	0.80876	.	0.83187	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6071	403357	8	52366200	G	A	389863	Benign	not_specified	0.82539	0.87448	0.74601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6072	5969	8	55539395	A	T	21008	Benign/Likely_benign	Hypertriglyceridemia,_susceptibility_to|not_sp...	.	0.34751	0.25	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6073	95357	8	55542540	G	A	101256	Benign/Likely_benign	not_specified|Retinitis_Pigmentosa,_Dominant	0.31475	.	0.21566	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6074	363327	8	57870847	T	C	309408	Benign	Chondrodysplasia	.	.	0.88239	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6075	363378	8	57874701	C	T	309475	Uncertain_significance	Chondrodysplasia	.	.	0.00379	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6076	128540	8	61178574	T	C	133989	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.52822	0.42793	0.501	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6077	158324	8	61655690	G	A	168596	Benign	not_specified	0.76248	0.81191	0.82708	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6078	2030	8	61690321	A	G	17069	Uncertain_significance	Scoliosis,_idiopathic_3	.	.	0.86062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6079	676809	8	61693412	C	A	663362	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6080	158325	8	61707725	G	A	168598	Benign	not_specified	0.82261	0.83159	0.89697	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6081	260894	8	61713126	A	ATGGACT	253153	Likely_benign	not_specified	0.74629	0.79536	0.82867	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6082	676842	8	61713231	C	A	663354	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6083	673326	8	61729273	T	G	662852	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6084	158326	8	61732521	A	G	168600	Benign	not_specified	0.7799	0.82588	0.85284	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6085	676810	8	61748415	G	A	662859	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6086	673327	8	61750002	A	G	662860	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6087	158327	8	61750860	A	G	168612	Benign	not_specified	0.76628	0.81372	0.83906	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6088	667608	8	61758254	G	A	663355	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6089	676811	8	61764076	A	G	662865	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6090	676812	8	61764389	G	T	663411	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6091	667609	8	61767390	G	C	663419	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6092	676813	8	61773285	C	T	663422	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6093	363501	8	61779681	A	C	305684	Benign	Hypogonadism_with_anosmia|CHARGE_association	.	.	0.5004	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6094	363502	8	61779936	T	G	315016	Benign	Hypogonadism_with_anosmia|CHARGE_association	.	.	0.49581	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6095	363511	8	61780220	T	C	305698	Benign	Hypogonadism_with_anosmia|CHARGE_association	.	.	0.73762	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6096	363513	8	61780289	C	T	309718	Benign	Hypogonadism_with_anosmia|CHARGE_association	.	.	0.49621	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6097	92872	8	63978658	TA	T	98779	Benign	Ataxia_with_vitamin_E_deficiency|not_specified...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6098	379640	8	67976750	C	G	371950	Benign	not_specified	0.02952	0.02929	0.01418	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6099	363596	8	68334411	T	C	309773	Likely_benign	Familial_temporal_lobe_epilepsy_2	.	.	0.01338	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6100	128847	8	68396915	T	C	134295	Benign/Likely_benign	Familial_temporal_lobe_epilepsy_2|not_specifie...	0.1241	0.11235	0.07907	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6101	128846	8	68421768	G	C	134294	Benign/Likely_benign	Familial_temporal_lobe_epilepsy_2|not_specified	0.05971	0.09439	0.08906	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6102	128845	8	68536470	A	G	134293	Benign/Likely_benign	Familial_temporal_lobe_epilepsy_2|not_specifie...	0.26404	0.23596	0.23223	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6103	369613	8	68658633	C	T	353842	Likely_benign	Familial_temporal_lobe_epilepsy_2	.	.	0.60463	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6104	225954	8	69389217	C	G	227767	drug_response	irinotecan_response_-_Toxicity/ADR	.	.	0.68351	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6105	363624	8	72109994	C	T	315067	Benign	Otofaciocervical_syndrome_1|Branchiootorenal_S...	.	.	0.98782	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6106	363687	8	74888494	C	T	315216	Benign	Mitochondrial_Complex_V_(ATP_Synthase)_Deficie...	0.24446	0.35452	0.21665	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6107	675845	8	74890798	A	G	662875	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6108	203986	8	74893628	T	G	200170	Conflicting_interpretations_of_pathogenicity	Mitochondrial_Complex_V_(ATP_Synthase)_Deficie...	.	0.00011	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6109	363693	8	74893880	C	T	315225	Benign	Mitochondrial_Complex_V_(ATP_Synthase)_Deficie...	0.46509	0.49457	0.47504	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6110	363712	8	74894748	A	G	315245	Benign	Mitochondrial_Complex_V_(ATP_Synthase)_Deficie...	.	.	0.21625	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6111	681267	8	75262536	G	T	663492	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6112	695131	8	75262798	G	C	684027	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6113	670530	8	75262841	G	A	663407	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6114	681269	8	75263943	CTT	C	662880	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6115	681275	8	75272727	C	A	662881	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6116	681276	8	75273933	A	G	663412	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6117	261065	8	75274141	T	G	253176	Benign	Charcot-Marie-Tooth_disease_type_2K|Charcot-Ma...	0.25373	0.2774	0.21925	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6118	681294	8	75274331	CAT	C	663509	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6119	670531	8	75275312	C	T	662885	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6120	363721	8	75276959	A	G	315149	Benign	Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch...	.	0.23342	0.23343	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6121	363727	8	75277399	A	G	315268	Benign	Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch...	.	0.98757	0.98982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6122	363728	8	75277432	C	G	315275	Benign	Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch...	.	0.23337	0.23343	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6123	363752	8	75278457	A	G	315173	Benign	Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch...	.	0.24126	0.26677	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6124	363753	8	75278480	G	T	305869	Benign	Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch...	.	0.22755	0.23363	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6125	363758	8	75278816	A	G	315188	Benign	Charcot-Marie-Tooth_with_Vocal_Cord_Paresis|Ch...	.	0.23293	0.22943	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6126	363772	8	77892834	A	T	305894	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.51797	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6127	363777	8	77893120	T	C	305899	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.95427	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6128	363798	8	77894303	T	C	315255	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.98582	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6129	363804	8	77894770	A	G	305926	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.95427	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6130	167455	8	77895865	A	G	177936	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	0.98916	0.98778	0.99621	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6131	369615	8	86376130	A	T	353844	Benign	Osteopetrosis_with_renal_tubular_acidosis	.	.	0.9988	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6132	254787	8	86389403	T	C	253178	Benign	Osteopetrosis_with_renal_tubular_acidosis|not_...	0.64309	0.5893	0.57768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6133	369616	8	87586151	A	G	353845	Benign	Achromatopsia|Stargardt_Disease,_Recessive	.	.	0.85623	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6134	363844	8	87586393	G	T	305952	Benign	Achromatopsia|Stargardt_Disease,_Recessive	.	.	0.53674	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6135	291003	8	87638279	T	C	275240	Conflicting_interpretations_of_pathogenicity	not_provided	0.00046	0.00051	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6136	95929	8	87666251	T	G	101825	Benign	Achromatopsia|Achromatopsia_3|not_specified|St...	0.64059	.	0.67971	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6137	261090	8	87679303	A	C	253186	Benign	Achromatopsia|Achromatopsia_3|not_specified|St...	0.8786	0.89461	0.95747	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6138	363882	8	87680406	G	GA	305979	Benign/Likely_benign	Achromatopsia|Stargardt_Disease,_Recessive|not...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6139	363896	8	90946056	A	G	310029	Benign	Microcephaly,_normal_intelligence_and_immunode...	.	.	0.33546	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6140	363898	8	90946601	T	G	310032	Benign	Microcephaly,_normal_intelligence_and_immunode...	.	.	0.33526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6141	363905	8	90947269	C	G	315495	Benign	Microcephaly,_normal_intelligence_and_immunode...	.	.	0.33027	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6142	363909	8	90947537	C	T	315368	Benign	Microcephaly,_normal_intelligence_and_immunode...	.	.	0.32188	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6143	258769	8	90955624	T	A	253191	Benign	not_specified	0.31393	0.35346	0.37919	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6144	183696	8	90958422	T	C	182835	Benign	Hereditary_cancer-predisposing_syndrome|Microc...	0.28419	0.34505	0.35284	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6145	258768	8	90958530	T	C	253192	Benign	Hereditary_cancer-predisposing_syndrome|Microc...	0.31313	0.35294	0.37899	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6146	183701	8	90967711	A	G	182857	Benign	Hereditary_cancer-predisposing_syndrome|Microc...	0.49031	0.46759	0.60863	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6147	199080	8	90970935	G	A	196239	Benign	Hereditary_cancer-predisposing_syndrome|not_sp...	0.28448	0.34459	0.35304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6148	134876	8	90990479	C	G	138615	Benign	Hereditary_cancer-predisposing_syndrome|Microc...	0.28656	0.34527	0.35703	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6149	183697	8	90995019	C	T	182905	Benign	Hereditary_cancer-predisposing_syndrome|Microc...	0.31316	0.35272	0.37919	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6150	126307	8	94792887	G	A	131839	Benign	not_specified|not_provided	0.01061	0.01451	0.01038	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6151	96528	8	94794620	C	T	102422	Benign	Nephronophthisis|Joubert_syndrome|Meckel-Grube...	0.63865	0.63405	0.71506	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6152	126301	8	94808165	A	G	131833	Benign	Nephronophthisis|Joubert_syndrome|Meckel-Grube...	0.64042	0.63694	0.69289	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6153	369617	8	94929079	T	A	353846	Benign	Pyruvate_dehydrogenase_phosphatase_deficiency	.	.	0.49661	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6154	363945	8	94935937	T	C	315572	Benign	Pyruvate_dehydrogenase_phosphatase_deficiency	0.40485	0.46757	0.49521	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6155	363952	8	94936532	G	C	306040	Benign	Pyruvate_dehydrogenase_phosphatase_deficiency	.	.	0.59385	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6156	681229	8	96044042	T	C	662926	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6157	676241	8	96044076	G	A	663529	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6158	681230	8	96046951	A	G	663455	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6159	671643	8	96047470	CTT	C	663427	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6160	559318	8	96047806	T	TAA,TA	549952	Benign	not_provided	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6161	681196	8	96058218	G	A	662929	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6162	256850	8	97157792	G	C	253216	Benign	not_specified	0.03232	.	0.03774	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6163	681299	8	97172403	A	G	663547	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6164	684319	8	97247469	A	G	663434	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6165	262657	8	100133706	T	G	253219	Benign	Cohen_syndrome|not_specified	0.75565	0.75035	0.70507	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6166	262652	8	100861146	G	A	253228	Benign	Cohen_syndrome|not_specified	0.24858	0.17766	0.22364	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6167	95821	8	100865836	G	A	101718	Benign/Likely_benign	Cohen_syndrome|History_of_neurodevelopmental_d...	0.11964	.	0.11102	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6168	361101	8	100888141	C	CCAA	315548	Likely_benign	Cohen_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6169	361106	8	100888322	CTAT	C	315735	Benign	Cohen_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6170	361107	8	100888489	C	CTT	310296	Likely_benign	Cohen_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6171	361108	8	100888592	CTGA	C	310304	Benign	Cohen_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6172	361123	8	100889677	C	T	306190	Benign	Cohen_syndrome	.	.	0.20567	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6173	262804	8	101203737	T	C	252991	Benign	not_specified	0.158	0.19792	0.15056	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6174	262805	8	101206391	G	A	252992	Benign	not_specified	0.15785	0.19858	0.15056	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6175	221008	8	101206459	A	AGAC	221749	Benign	Ciliary_dyskinesia,_primary,_28|not_specified	0.15681	0.19907	0.15036	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6176	410995	8	101251617	A	T	396533	Likely_benign	not_provided	0.00131	0.00105	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6177	262802	8	101252680	T	C	252995	Benign	not_specified	0.63755	0.61791	0.6274	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6178	508097	8	102504974	C	G	501889	Benign	CORNEAL_DYSTROPHY,_POSTERIOR_POLYMORPHOUS,_4|n...	0.99854	0.97426	0.96126	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6179	768252	8	103573001	C	G	700327	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6180	100143	8	105459793	C	A	106020	not_provided	not_provided	.	.	0.59784	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6181	100144	8	105463690	A	G	106021	not_provided	not_provided	.	.	0.3764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6182	260177	8	106573578	C	T	252998	Benign	not_specified	0.68269	.	0.72025	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6183	361519	8	116421434	G	C	312576	Benign	Trichorhinophalangeal_Syndrome	.	.	1	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6184	361537	8	116421936	A	C	307528	Benign	Trichorhinophalangeal_Syndrome	.	.	0.61302	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6185	361560	8	116423424	T	C	312625	Benign	Trichorhinophalangeal_Syndrome	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6186	361561	8	116423490	A	T	312569	Benign	Trichorhinophalangeal_Syndrome	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6187	361582	8	116424270	A	AC	307545	Benign	Trichorhinophalangeal_Syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6188	361601	8	116425860	A	G	312701	Benign	Trichorhinophalangeal_Syndrome	.	.	0.54553	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6189	260331	8	116599199	T	G	253013	Benign	not_specified	0.6704	.	0.77137	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6190	260329	8	116635872	T	TA	253016	Benign	Trichorhinophalangeal_Syndrome|Trichorhinophal...	0.29944	0.37519	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6191	361634	8	116635942	C	T	304025	Benign	Trichorhinophalangeal_Syndrome	.	.	0.6867	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6192	361641	8	116680944	AAGAGAG	A	312678	Uncertain_significance	Trichorhinophalangeal_Syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6193	669108	8	117860152	T	C	663116	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6194	669106	8	117861516	T	C	663124	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6195	159805	8	117864217	A	G	168582	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.1241	0.17277	0.13319	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6196	159809	8	117866718	A	G	168583	Benign/Likely_benign	not_specified	0.00492	0.00393	0.0004	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6197	668613	8	117870375	A	G	663141	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6198	1000	8	118184783	C	T	16039	risk_factor	DIABETES_MELLITUS,_TYPE_2,_SUSCEPTIBILITY_TO	.	0.28489	0.25519	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6199	255175	8	118819578	C	T	253019	Benign	not_specified|Hereditary_Multiple_Osteochondro...	0.35107	0.39736	0.33846	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6200	255172	8	118832020	G	A	253022	Benign	not_specified|Hereditary_Multiple_Osteochondro...	0.16431	0.1746	0.12021	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6201	196215	8	118847782	G	A	193376	Benign	Multiple_congenital_exostosis|not_specified|He...	0.24604	0.25958	0.17392	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6202	196349	8	119941173	A	G	193510	Benign	Hyperphosphatasemia_with_bone_disease|not_spec...	0.93665	0.93393	0.92372	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6203	258775	8	119964052	G	C	253030	Benign	Hyperphosphatasemia_with_bone_disease|not_spec...	0.58892	0.60241	0.66673	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6204	361702	8	119964283	G	A	307683	Benign	Hyperphosphatasemia_with_bone_disease	.	.	0.6216	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6205	802438	8	125570144	G	A	790778	Benign	MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6206	802439	8	125579990	C	T	790779	Benign	MITOCHONDRIAL_COMPLEX_I_DEFICIENCY,_NUCLEAR_TY...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6207	683815	8	126040573	C	T	663207	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6208	683812	8	126049191	A	G	663162	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6209	682822	8	126050879	C	T	663167	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6210	671065	8	126052488	T	C	663125	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6211	516650	8	126056215	G	GC	502579	Benign	not_specified	0.99984	0.99997	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6212	669898	8	126061712	C	T	663170	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6213	670723	8	126068197	T	C	663216	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6214	682819	8	126079772	A	T	663133	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6215	380826	8	126085586	G	A	370065	Benign	not_specified	0.16277	0.23301	0.22544	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6216	669859	8	126096595	T	C	663135	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6217	361745	8	133133361	C	T	312763	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.13518	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6218	361757	8	133134288	G	A	312809	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.13518	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6219	361759	8	133134366	T	C	307788	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.13518	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6220	361761	8	133134390	G	A	312820	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.13518	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6221	361763	8	133134434	T	C	304178	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.13478	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6222	361764	8	133134476	A	G	312821	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.13478	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6223	361766	8	133134553	T	C	304180	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.13598	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6224	361767	8	133134635	G	C	307793	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.13478	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6225	361776	8	133135169	C	T	312838	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.13918	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6226	361784	8	133135577	T	G	307838	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.13518	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6227	361799	8	133136551	T	C	312891	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.72284	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6228	361802	8	133136762	C	CCTGT	304197	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6229	361809	8	133137266	T	A	307864	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.28634	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6230	361814	8	133137532	C	T	312923	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.3109	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6231	361823	8	133137912	C	T	312925	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.72085	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6232	361833	8	133138474	T	C	304229	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.14317	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6233	361834	8	133138477	T	C	312958	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.29313	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6234	361846	8	133139755	G	A	312980	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.26857	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6235	670591	8	133142310	G	C	663175	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6236	674991	8	133142353	G	A	663144	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6237	670883	8	133150103	C	T	663183	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6238	683736	8	133175446	A	G	663160	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6239	674897	8	133459549	A	G	663187	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6240	361897	8	133492921	C	A	313040	Benign	Benign_Neonatal_Epilepsy|Benign_familial_neona...	.	.	0.22744	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6241	683733	8	133493283	T	C	663202	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6242	683731	8	133493335	A	C	663208	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6243	260278	8	133637659	G	A	253039	Benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	0.5582	0.41905	0.48622	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6244	29906	8	133877623	A	G	38861	risk_factor	Autoimmune_thyroid_disease_3	.	.	0.59245	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6245	12697	8	133900252	T	G	27736	Benign/Likely_benign	Thyroid_dyshormonogenesis|Autoimmune_thyroid_d...	.	.	0.67632	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6246	258989	8	133900386	T	C	253046	Benign/Likely_benign	Thyroid_dyshormonogenesis|not_specified	0.5865	0.58294	0.67272	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6247	12698	8	133909974	A	G	27737	Benign/Likely_benign	Thyroid_dyshormonogenesis|Autoimmune_thyroid_d...	.	0.58417	0.67492	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6248	258992	8	133920411	T	C	253049	Benign	not_specified	0.46148	0.57061	0.39776	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6249	258993	8	133920518	A	G	253050	Benign/Likely_benign	Thyroid_dyshormonogenesis|not_specified	0.46163	0.56972	0.39876	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6250	258994	8	133931748	T	C	253051	Benign/Likely_benign	Thyroid_dyshormonogenesis|not_specified	0.53991	0.59147	0.47384	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6251	258996	8	133975283	G	A	253052	Benign/Likely_benign	Thyroid_dyshormonogenesis|not_specified	0.3789	0.4846	0.34685	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6252	12696	8	133984058	C	T	27735	Benign/Likely_benign	Thyroid_dyshormonogenesis|Autoimmune_thyroid_d...	.	0.32262	0.33247	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6253	259000	8	134108453	C	T	253056	Benign/Likely_benign	Thyroid_dyshormonogenesis|not_specified	0.37883	0.43471	0.34465	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6254	259001	8	134108546	T	C	253057	Benign	Thyroid_dyshormonogenesis|not_specified	0.61472	0.50237	0.52236	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6255	259002	8	134125682	G	A	253058	Benign	Thyroid_dyshormonogenesis|not_specified	0.5742	0.49759	0.53734	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6256	362015	8	134250165	A	G	313152	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.83027	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6257	667647	8	134254051	A	G	662665	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6258	673430	8	134256315	C	T	663201	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6259	667649	8	134258711	A	G	663210	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6260	138433	8	134260948	A	G	142136	Benign	Charcot-Marie-Tooth_disease_type_4|not_specifi...	0.04767	0.09043	0.09265	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6261	667644	8	134262532	T	C	663213	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6262	667641	8	134274226	C	G	663290	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6263	667640	8	134292288	T	C	662705	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6264	259916	8	134292516	A	G	253060	Benign	Charcot-Marie-Tooth_disease,_type_4D|Charcot-M...	0.66785	0.56349	0.61342	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6265	369595	8	140624798	A	AG	353824	Benign	Birk-Barel_Intellectual_Disability_Dysmorphism...	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6266	362074	8	141034189	A	T	308163	Benign	Intellectual_Disability,_Recessive	0.57158	0.63085	0.53834	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6267	130626	8	141262869	C	T	136072	Benign	not_specified|Intellectual_Disability,_Recessive	0.09972	0.12324	0.07169	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6268	130625	8	141263015	G	A	136071	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.09972	0.12368	0.07129	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6269	768267	8	141561393	G	C	777712	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6270	691405	8	142170884	C	T	679171	Uncertain_significance	Hirschsprung_disease	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6271	691482	8	142200467	G	A	679172	Uncertain_significance	Hirschsprung_disease	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6272	362189	8	143993157	A	G	304553	Benign	Hyperaldosteronism,_familial,_type_I|Corticost...	.	.	0.999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6273	362191	8	143993315	C	T	304554	Benign	Hyperaldosteronism,_familial,_type_I|Corticost...	.	.	0.13219	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6274	362207	8	143995761	C	T	308315	Benign	Hyperaldosteronism,_familial,_type_I|Corticost...	0.96932	0.90939	0.82348	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6275	263135	8	144808747	G	A	253062	Benign	Amelogenesis_imperfecta,_hypocalcification_typ...	0.6482	0.68153	0.52915	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6276	263133	8	144809804	G	A	253064	Benign	Amelogenesis_imperfecta,_hypocalcification_typ...	0.86583	0.94992	0.82328	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6277	263132	8	144810138	G	A	253065	Benign	not_specified	0.0809	0.27669	0.16594	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6278	93012	8	144990335	G	A	98919	Benign	not_specified	.	0.43074	0.23822	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6279	93033	8	144990528	A	G	98940	Benign	not_specified	0.54066	0.41913	0.47704	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6280	93030	8	144991176	T	C	98937	Benign	not_specified	0.56554	0.41899	0.47844	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6281	93025	8	144992103	T	C	98932	Benign	not_specified|not_provided	0.5882	0.43432	0.49042	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6282	93023	8	144992361	T	C	98930	Benign	not_specified	0.56838	0.42749	0.47824	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6283	93022	8	144992862	A	G	98929	Benign	not_specified	0.53453	.	0.44609	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6284	93020	8	144993324	C	T	98927	Benign	not_specified	0.30209	0.3451	0.23403	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6285	93018	8	144993377	A	G	98925	Benign	not_specified|not_provided	0.56213	.	0.47185	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6286	93089	8	144994888	G	A	98996	Benign/Likely_benign	not_specified	0.05337	0.05685	0.02756	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6287	93087	8	144995494	C	T	98994	Benign	not_specified	0.30797	0.34437	0.23063	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6288	93084	8	144995736	G	A	98991	Benign	not_specified	0.30211	0.34463	0.23023	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6289	93083	8	144996029	A	G	98990	Benign	not_specified	0.56316	0.40851	0.46665	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6290	93078	8	144996408	T	G	98985	Benign	not_specified	0.29504	0.4297	0.23103	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6291	256178	8	144996598	G	A	253068	Benign	not_specified|not_provided	0.29795	0.34478	0.23063	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6292	256177	8	144996635	G	A	253069	Benign	not_specified|not_provided	0.29427	0.34321	0.23063	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6293	93073	8	144997656	C	T	98980	Benign	not_specified	0.28868	0.35355	0.23023	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6294	93071	8	144997927	G	A	98978	Benign	not_specified|not_provided	0.26171	0.46515	0.23063	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6295	93068	8	144998169	C	T	98975	Benign	not_specified	0.26992	0.36315	0.23083	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6296	93067	8	144998190	A	G	98974	Benign	not_specified	0.27612	0.36158	0.23083	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6297	93056	8	144999417	C	T	98963	Benign	not_specified	0.26815	0.37586	0.23083	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6298	93052	8	144999621	C	T	98959	Benign	not_specified|not_provided	0.27147	0.3295	0.22484	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6299	93051	8	144999642	A	C	98958	Benign	not_specified	0.27987	.	0.23263	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6300	93050	8	144999684	A	G	98957	Benign	not_specified	0.24051	0.33565	0.23263	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6301	93049	8	145000056	T	C	98956	Benign	not_specified	0.22096	0.39123	0.23103	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6302	667911	8	145000221	G	A	663307	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6303	683693	8	145000321	C	T	663236	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6304	667909	8	145000740	G	A	663240	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6305	667891	8	145000809	G	A	663226	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6306	667889	8	145000898	A	G	663314	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6307	129947	8	145001031	T	C	135393	Benign	not_specified	0.56159	0.41277	0.46665	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6308	667887	8	145001300	T	A	663229	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6309	667885	8	145001311	T	C	663235	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6310	256175	8	145001372	T	C	253071	Benign	not_specified|not_provided	0.30769	0.3438	0.23103	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6311	93047	8	145001509	T	C	98954	Benign	not_specified	0.30218	0.34372	0.23083	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6312	93046	8	145001588	C	T	98953	Benign	not_specified	0.30752	0.34895	0.23083	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6313	93044	8	145001784	A	G	98951	Benign	not_specified	0.26498	0.36871	0.23083	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6314	667881	8	145002283	A	G	662711	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6315	683692	8	145002431	C	G	663245	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6316	256173	8	145003777	G	A	253073	Benign	not_specified|not_provided	0.2942	0.33543	0.22524	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6317	195654	8	145004474	G	A	192815	Conflicting_interpretations_of_pathogenicity	not_specified|not_provided	0.00181	0.00151	0.0006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6318	129938	8	145004546	G	A	135384	Benign	not_specified	0.69877	0.74106	0.57189	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6319	667921	8	145004944	T	C	662716	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6320	683690	8	145005450	T	C	663257	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6321	93038	8	145005688	A	AC	98945	Benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6322	93035	8	145006790	T	C	98942	Benign	not_specified	0.38148	0.35985	0.32748	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6323	129934	8	145007187	G	A	135380	Benign	not_specified	0.28956	0.36687	0.23143	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6324	227018	8	145007534	C	T	231312	Benign	not_specified	0.46712	0.38044	0.39836	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6325	667918	8	145007947	G	A	662720	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6326	667917	8	145007989	A	G	663316	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6327	667915	8	145008342	C	A	663248	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6328	256170	8	145008443	A	T	253075	Benign	not_specified|not_provided	0.29567	0.3301	0.23203	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6329	129928	8	145008560	A	G	135374	Benign	not_specified	0.29247	0.33022	0.23143	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6330	667912	8	145008706	C	T	662733	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6331	256168	8	145008931	G	C	253076	Benign	not_specified|not_provided	0.46196	.	0.39337	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6332	667892	8	145009593	A	C	663266	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6333	667890	8	145009610	A	G	663250	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6334	667888	8	145010305	A	G	663258	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6335	129949	8	145011204	A	G	135395	Benign	not_specified|not_provided	0.29234	.	0.23243	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6336	667886	8	145012206	G	A	663269	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6337	667884	8	145012466	A	G	662737	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6338	256171	8	145012777	C	G	253077	Benign	not_specified|not_provided	0.29434	.	0.23043	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6339	667880	8	145013315	G	T	663274	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6340	667877	8	145013345	C	T	663318	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6341	667860	8	145013893	C	G	663283	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6342	683688	8	145013949	C	T	663268	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6343	683686	8	145013987	C	CAG	663323	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6344	379959	8	145150101	T	G	370173	Benign	not_specified|not_provided	.	0.87931	0.88958	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6345	403433	8	145158446	C	T	389762	Benign	not_specified	0.91789	0.94626	0.88459	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6346	403434	8	145158503	G	T	389779	Benign	not_specified	0.9149	0.94716	0.88478	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6347	403435	8	145160646	T	C	389855	Benign	not_specified	0.94856	0.98487	0.95328	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6348	402587	8	145541766	G	T	390517	Benign	not_specified	0.07232	0.06813	0.03594	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6349	402588	8	145542021	G	A	390518	Benign	not_specified	0.05371	0.04958	0.02336	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6350	380872	8	145582839	T	C	371714	Benign	not_specified	.	.	0.45727	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6351	403459	8	145640411	A	G	390475	Benign	not_specified	0.96655	0.96782	0.98463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6352	259199	8	145699601	T	C	253080	Benign	Holoprosencephaly_sequence|not_specified	0.99578	0.97085	0.94569	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6353	94894	8	145737286	G	A	100794	Benign	not_specified	0.34997	0.46696	0.40056	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6354	94893	8	145737514	G	A	100793	Benign	not_specified	0.39325	0.50634	0.43331	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6355	167573	8	145737636	A	G	178005	Benign	not_specified	0.99841	0.97283	0.94609	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6356	94891	8	145737816	C	T	100791	Benign	not_specified|not_provided	0.34191	0.4612	0.38439	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6357	94890	8	145738349	G	T	100790	Benign	Baller-Gerold_syndrome|not_specified	0.00644	0.01114	0.00539	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6358	94886	8	145739924	G	A	100786	Benign	not_specified	0.35052	0.48016	0.39457	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6359	94884	8	145741130	C	T	100784	Benign	not_specified	0.36496	0.47156	0.40096	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6360	94898	8	145741702	C	G	100798	Benign	not_specified|not_provided	0.39187	0.43771	0.44768	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6361	94897	8	145741765	G	A	100797	Benign	not_specified|not_provided	0.33916	0.43943	0.37001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6362	135161	8	145742514	A	G	138900	Benign	not_specified	0.99517	0.97332	0.94329	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6363	94885	8	145742879	T	C	100785	Benign	not_specified|not_provided	0.55069	0.55522	0.57508	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6364	403369	8	145745182	T	C	389833	Benign	not_specified	0.999	0.97398	0.94768	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6365	673270	9	215057	T	C	664229	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6366	676901	9	215269	A	C	663725	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6367	673882	9	271455	T	C	663757	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6368	137155	9	271638	C	T	140858	Benign	Hyperimmunoglobulin_E_recurrent_infection_synd...	0.31888	0.32449	0.30771	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6369	178766	9	286593	C	A	175103	Benign	Hyperimmunoglobulin_E_recurrent_infection_synd...	0.46425	0.52063	0.52975	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6370	673271	9	316998	C	T	663777	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6371	676843	9	317370	G	C	664271	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6372	667665	9	325993	G	A	664316	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6373	263271	9	328006	T	C	253508	Benign	not_specified	0.66838	.	0.69589	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6374	163174	9	334337	A	G	174691	Benign	not_specified|Hyper-IgE_syndrome	0.28202	0.24879	0.19968	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6375	669669	9	337045	G	C	664571	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6376	676844	9	367887	A	T	664347	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6377	137137	9	370244	A	G	140840	Benign	not_specified|Hyper-IgE_syndrome	0.25181	0.22256	0.21586	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6378	673273	9	370370	G	C	663824	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6379	676820	9	370439	G	A	663828	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6380	676845	9	370531	A	G	664353	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6381	674865	9	376122	C	T	664386	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6382	673274	9	376179	T	A	664377	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6383	676821	9	376538	G	T	664379	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6384	137139	9	377111	G	C	140842	Benign	not_specified|Hyper-IgE_syndrome	0.26657	0.23316	0.22863	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6385	675026	9	380035	G	T	664646	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6386	676846	9	382294	T	C	664652	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6387	676836	9	382390	T	C	664400	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6388	676851	9	386094	T	G	663847	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6389	673290	9	386559	A	C	664407	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6390	137141	9	390512	C	T	140844	Benign	not_specified|Hyper-IgE_syndrome	0.28502	0.23444	0.25499	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6391	673291	9	390636	A	G	663849	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6392	673883	9	396712	T	A	664665	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6393	673884	9	397050	A	T	663861	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6394	667666	9	398865	A	G	664410	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6395	366969	9	399245	C	A	319385	Conflicting_interpretations_of_pathogenicity	Hyper-IgE_syndrome|not_provided	0.00031	0.00072	0.0004	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6396	178769	9	421032	C	G	175111	Benign	Hyperimmunoglobulin_E_recurrent_infection_synd...	0.46263	.	0.39177	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6397	178770	9	429719	T	C	174698	Benign	not_specified	0.99677	0.99783	0.9994	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6398	667667	9	430114	C	G	664678	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6399	667680	9	431848	A	G	663875	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6400	667681	9	431860	T	C	663876	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6401	163176	9	432330	C	G	174825	Benign	not_specified|Hyper-IgE_syndrome	0.66923	0.75771	0.71426	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6402	667682	9	432625	A	G	664429	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6403	667683	9	432628	G	T	664421	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6404	163177	9	433978	A	G	174549	Benign	not_specified|Hyper-IgE_syndrome	0.67492	0.75878	0.72105	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6405	178771	9	441952	G	A	174550	Benign	Hyperimmunoglobulin_E_recurrent_infection_synd...	0.74289	0.82006	0.80391	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6406	667684	9	442272	G	C	663878	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6407	263270	9	446352	G	C	253561	Benign	not_specified	0.55828	.	0.63299	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6408	367102	9	464920	G	A	308579	Benign	Hyper-IgE_syndrome	.	.	0.85603	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6409	717026	9	744505	G	A	723621	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6410	802456	9	2170512	G	C	790886	Benign	Nicolaides-Baraitser_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6411	366341	9	2193437	T	C	318557	Likely_benign	Nicolaides-Baraitser_syndrome	.	.	0.01877	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6412	366342	9	2193455	A	G	317990	Likely_benign	Nicolaides-Baraitser_syndrome	.	.	0.01098	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6413	667580	9	2621482	C	G	664235	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6414	366352	9	2622121	A	G	318001	Benign	Congenital_cerebellar_hypoplasia|not_provided	.	.	0.8123	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6415	366354	9	2622134	C	T	318566	Benign	Congenital_cerebellar_hypoplasia	.	.	0.3099	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6416	290493	9	2622146	ACGGCGGCGG	A	274730	Conflicting_interpretations_of_pathogenicity	Congenital_cerebellar_hypoplasia|not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6417	130713	9	2622278	G	A	136159	Benign	Congenital_cerebellar_hypoplasia|not_specified	.	0.32138	0.29493	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6418	667581	9	2622547	C	T	664287	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6419	667582	9	2622554	T	C	664526	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6420	667583	9	2635116	G	C	664531	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6421	130701	9	2644954	C	T	136147	Likely_benign	Congenital_cerebellar_hypoplasia|not_specified	0.15378	.	0.08167	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6422	674397	9	2645109	G	A	664300	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6423	674398	9	2645773	T	G	664545	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6424	670831	9	2647760	A	G	664240	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6425	130707	9	2648773	A	G	136153	Likely_benign	Congenital_cerebellar_hypoplasia|not_specified	0.14009	0.145	0.07388	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6426	670832	9	2650264	T	G	663741	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6427	672298	9	2651340	A	G	663743	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6428	130709	9	2651962	G	T	136155	Benign	Congenital_cerebellar_hypoplasia|not_specified	0.25527	0.18801	0.17173	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6429	672299	9	2652589	C	T	664248	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6430	366383	9	2654419	T	C	307997	Likely_benign	Congenital_cerebellar_hypoplasia	.	.	0.09585	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6431	366402	9	2717676	T	G	318131	Benign	Cone_dystrophy_3	.	.	0.19728	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6432	366403	9	2717698	C	G	312358	Benign	Cone_dystrophy_3	0.58973	0.61265	0.67193	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6433	96357	9	2717922	C	G	102251	Benign	Cone_dystrophy_3|not_specified	0.58796	0.61159	0.66034	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6434	96362	9	2718534	C	G	102256	Benign	Cone_dystrophy_3|not_specified	0.43562	0.48958	0.48003	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6435	366482	9	2729989	T	A	318746	Likely_benign	Cone_dystrophy_3	.	.	0.05771	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6436	366891	9	3824934	AAT	A,AA	319285	Benign	Diabetes_mellitus,_neonatal,_with_congenital_h...	.	.	.	1|2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6437	366897	9	3825015	T	C	308373	Uncertain_significance	Diabetes_mellitus,_neonatal,_with_congenital_h...	.	.	0.00639	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6438	366912	9	3825540	C	T	318680	Benign	Diabetes_mellitus,_neonatal,_with_congenital_h...	.	.	0.79313	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6439	366916	9	3825812	G	A	308391	Benign	Diabetes_mellitus,_neonatal,_with_congenital_h...	.	.	0.95308	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6440	366929	9	3826471	T	TG	318714	Benign	Diabetes_mellitus,_neonatal,_with_congenital_h...	.	.	0.96765	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6441	366935	9	3826710	T	G	318738	Benign	Diabetes_mellitus,_neonatal,_with_congenital_h...	.	.	0.34365	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6442	366938	9	3827075	C	G	318750	Benign	Diabetes_mellitus,_neonatal,_with_congenital_h...	.	.	0.38658	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6443	366946	9	3827607	A	AT	319366	Benign	Diabetes_mellitus,_neonatal,_with_congenital_h...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6444	129160	9	4118111	G	T	134606	Benign	Diabetes_mellitus,_neonatal,_with_congenital_h...	0.66927	0.67299	0.67612	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6445	129159	9	4118208	A	G	134605	Benign	Diabetes_mellitus,_neonatal,_with_congenital_h...	0.99872	0.99973	0.999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6446	367039	9	4544640	T	C	308515	Conflicting_interpretations_of_pathogenicity	Dicarboxylic_aminoaciduria|not_provided	0.00777	0.00667	0.00339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6447	367042	9	4564432	G	A	319503	Benign	Dicarboxylic_aminoaciduria	0.35637	0.39707	0.32828	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6448	367084	9	4586808	G	C	308540	Benign	Dicarboxylic_aminoaciduria	.	.	0.22804	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6449	367114	9	4985542	T	C	318934	Benign	Budd-Chiari_syndrome	.	.	0.29074	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6450	367122	9	5050706	C	T	318940	Benign	Budd-Chiari_syndrome|not_specified	0.35645	0.32569	0.35823	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6451	367129	9	5081780	G	A	319566	Benign	Budd-Chiari_syndrome|not_specified	0.62425	0.53275	0.61681	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6452	367149	9	5127974	A	ACAT	308609	Likely_benign	Budd-Chiari_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6453	773508	9	5812883	A	G	777823	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6454	255454	9	6553514	A	AT	253564	Benign/Likely_benign	Non-ketotic_hyperglycinemia|not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6455	255459	9	6610326	C	T	253566	Benign	Non-ketotic_hyperglycinemia|not_specified|not_...	0.2362	0.24241	0.19209	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6456	783027	9	8404607	G	A	712042	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6457	256642	9	12704725	C	T	253304	Benign	not_specified	0.44118	.	0.22085	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6458	256643	9	12708958	T	TA	253305	Benign	not_specified	0.51998	.	0.25978	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6459	364861	9	12709305	C	A	316831	Benign	Oculocutaneous_albinism	.	.	0.252	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6460	364863	9	12709474	ATAAG	A	310952	Benign	Oculocutaneous_albinism	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6461	364865	9	12709586	A	T	310966	Benign	Oculocutaneous_albinism	.	.	0.24101	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6462	364867	9	12709648	AAATT	A	316559	Benign	Oculocutaneous_albinism	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6463	364872	9	12710035	A	C	316849	Benign	Oculocutaneous_albinism	.	.	0.26158	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6464	364873	9	12710090	T	C	316569	Benign	Oculocutaneous_albinism	.	.	0.27256	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6465	211516	9	13125201	T	C	207631	Benign	not_specified	0.61575	0.66471	0.55691	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6466	366056	9	14735053	T	C	312029	Benign	Marles_Greenberg_Persaud_syndrome	.	.	0.4357	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6467	366057	9	14735064	G	C	312034	Benign	Marles_Greenberg_Persaud_syndrome	.	.	0.55631	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6468	366059	9	14735074	T	G	318188	Benign	Marles_Greenberg_Persaud_syndrome	.	.	0.57828	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6469	366061	9	14735140	T	C	312051	Benign	Marles_Greenberg_Persaud_syndrome	.	.	0.13059	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6470	366063	9	14735187	C	T	318193	Likely_benign	Marles_Greenberg_Persaud_syndrome	.	.	0.08866	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6471	366066	9	14735529	A	G	312062	Benign	Marles_Greenberg_Persaud_syndrome	.	.	0.72344	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6472	366071	9	14735694	A	G	318200	Benign	Marles_Greenberg_Persaud_syndrome	.	.	0.72304	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6473	366075	9	14736005	T	TA	317706	Likely_benign	Marles_Greenberg_Persaud_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6474	366079	9	14736138	A	T	307789	Likely_benign	Marles_Greenberg_Persaud_syndrome	.	.	0.0627	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6475	366085	9	14736409	A	C	317732	Likely_benign	Marles_Greenberg_Persaud_syndrome	.	.	0.05571	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6476	262545	9	14737506	T	G	253486	Benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.75257	0.73855	0.73502	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6477	262543	9	14770658	G	T	253488	Benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.36253	0.32681	0.25419	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6478	262542	9	14775853	A	G	253489	Benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.86508	0.86785	0.84724	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6479	262541	9	14775859	G	A	253490	Benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.51916	0.51006	0.41673	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6480	262539	9	14776027	C	T	253492	Benign/Likely_benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.16114	0.13406	0.10643	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6481	262538	9	14801687	T	C	253493	Benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.17767	0.2176	0.17692	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6482	262537	9	14801710	C	A	253494	Benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.26784	0.32431	0.25998	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6483	262536	9	14806848	C	A	253495	Benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.19126	0.28086	0.15176	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6484	366142	9	14813072	G	A	312147	Likely_benign	Marles_Greenberg_Persaud_syndrome	0.03275	0.0303	0.01957	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6485	262535	9	14819370	G	T	253496	Benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.2054	0.23026	0.16414	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6486	262534	9	14846036	C	G	253497	Benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.56714	0.60087	0.5008	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6487	262546	9	14851617	T	C	253498	Benign	Marles_Greenberg_Persaud_syndrome|not_specified	0.72747	0.8054	0.76957	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6488	366172	9	14859356	T	C	318323	Benign	Marles_Greenberg_Persaud_syndrome	0.15076	0.21001	0.2484	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6489	366182	9	14869110	C	G	318337	Benign	Marles_Greenberg_Persaud_syndrome	.	.	0.22844	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6490	120236	9	16435714	T	C	125830	not_provided	Hypotension	0.10341	.	0.07887	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6491	402871	9	20764870	T	C	389806	Benign	not_specified	0.35084	0.32427	0.28095	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6492	402872	9	20885240	G	A	389891	Benign	not_specified	0.57028	.	0.60383	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6493	402873	9	20988426	A	G	389813	Benign	not_specified	0.74297	0.74239	0.76857	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6494	366256	9	21862271	A	C	317926	Benign	Diaphyseal_medullary_stenosis_with_malignant_f...	.	.	0.46985	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6495	366317	9	21865929	C	T	307951	Likely_benign	Diaphyseal_medullary_stenosis_with_malignant_f...	.	.	0.01098	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6496	366434	9	27202870	A	G	318153	Benign	Multiple_Cutaneous_and_Mucosal_Venous_Malforma...	0.44626	0.46488	0.41434	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6497	518397	9	27203134	A	G	508837	Benign	Multiple_Cutaneous_and_Mucosal_Venous_Malforma...	0.4471	.	0.41494	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6498	366439	9	27205021	G	A	318674	Benign	Multiple_Cutaneous_and_Mucosal_Venous_Malforma...	0.21129	0.21137	0.15096	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6499	366450	9	27220066	G	A	312397	Benign	Multiple_Cutaneous_and_Mucosal_Venous_Malforma...	0.22459	.	0.22424	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6500	366455	9	27229141	T	C	318689	Benign	Multiple_Cutaneous_and_Mucosal_Venous_Malforma...	0.21113	0.17237	0.22304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6501	366478	9	27230152	G	A	318732	Benign	Multiple_Cutaneous_and_Mucosal_Venous_Malforma...	.	.	0.20168	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6502	95315	9	32541532	A	G	101214	Benign/Likely_benign	not_specified|Retinitis_Pigmentosa,_Dominant	0.20468	0.18519	0.11422	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6503	95313	9	32542204	A	G	101212	Benign/Likely_benign	not_specified|Retinitis_Pigmentosa,_Dominant	0.17938	0.20751	0.17911	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6504	214123	9	32974570	G	GA	211373	Benign	not_specified|Ataxia_with_Oculomotor_Apraxia|C...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6505	366647	9	33113196	G	T	318951	Benign	Congenital_disorder_of_glycosylation	.	.	0.94848	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6506	208122	9	34635598	T	C	204389	Uncertain_significance	Amyotrophic_lateral_sclerosis_16,_juvenile	0.98655	.	0.98742	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6507	402843	9	34724059	G	A	389913	Benign	not_specified	.	0.26909	0.40096	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6508	260123	9	35060955	T	C	253528	Benign	not_specified	0.76173	0.74608	0.70188	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6509	260128	9	35062972	C	T	253532	Benign	not_specified|Amyotrophic_Lateral_Sclerosis,_D...	0.75942	0.74418	0.70108	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6510	259478	9	35077441	T	C	253537	Benign	not_specified	0.76188	0.74589	0.70148	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6511	366742	9	35079913	T	C	319080	Benign	Fanconi_anemia	.	.	0.1258	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6512	366744	9	35079973	T	TA	312648	Benign	Fanconi_anemia	.	.	0.20647	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6513	366746	9	35080011	C	A	308268	Benign	Fanconi_anemia	.	.	0.1258	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6514	366751	9	35089048	A	C	312668	Benign	Hyperphosphatasia-intellectual_disability_synd...	0.98232	0.99496	0.98403	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6515	670827	9	35089498	G	A	664322	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6516	262093	9	35093020	T	C	253543	Benign	Hyperphosphatasia-intellectual_disability_synd...	0.51899	0.54403	0.47404	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6517	670826	9	35093849	G	A	664331	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6518	262100	9	35094373	G	A	253544	Benign	not_specified	0.04867	.	0.1262	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6519	780046	9	35397166	C	G	711959	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6520	138922	9	35658062	G	T	142625	Benign	not_specified	.	0.47592	0.48682	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6521	138920	9	35658072	A	G	142623	Benign	not_provided	.	.	0.30451	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6522	94123	9	35684822	C	CG	100023	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6523	140484	9	35689373	T	C	150162	Benign	not_provided	.	.	0.48003	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6524	679869	9	35690102	A	G	664346	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6525	516643	9	35739115	G	GC	502951	Benign	not_specified	0.69247	0.68747	0.71046	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6526	366776	9	35792423	T	C	312693	Benign	Acromesomelic_Dysplasia	0.28823	0.23854	0.3135	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6527	366787	9	35802583	C	T	312716	Benign	Acromesomelic_Dysplasia	0.2881	0.23146	0.3125	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6528	366804	9	36214971	G	A	312726	Benign	Sialuria|GNE_myopathy|Inclusion_Body_Myopathy,...	.	.	0.56929	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6529	366811	9	36215581	C	T	319172	Benign	Sialuria|GNE_myopathy|Inclusion_Body_Myopathy,...	.	.	0.13359	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6530	366825	9	36216426	G	A	312748	Benign	Sialuria|GNE_myopathy|Inclusion_Body_Myopathy,...	.	.	0.30032	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6531	681355	9	36217798	G	A	663808	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6532	681354	9	36218018	C	G	664336	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6533	681770	9	36218377	C	G	664337	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6534	681839	9	36220134	T	C	663809	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6535	681838	9	36222649	C	G	664354	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6536	671400	9	36223801	C	T	663814	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6537	681753	9	36246594	T	C	664345	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6538	257526	9	36276857	A	G	253556	Benign	not_specified|not_provided	0.78612	0.72753	0.65176	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6539	672297	9	36277171	C	T	664629	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6540	134998	9	36840623	G	A	138737	not_provided	not_specified	0.76312	0.86867	0.74201	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6541	204220	9	37426524	C	T	200625	Benign	Primary_hyperoxaluria|Primary_hyperoxaluria,_t...	0.92211	0.97642	0.91953	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6542	204222	9	37429661	A	G	200633	Uncertain_significance	Primary_hyperoxaluria,_type_II	.	0.89344	0.85204	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6543	21490	9	37429814	A	G	34342	Benign	Primary_hyperoxaluria|Primary_hyperoxaluria,_t...	0.85699	0.89246	0.84924	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6544	136360	9	38395940	T	C	140063	Benign	not_specified	0.92081	0.95416	0.9367	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6545	136362	9	38396065	G	T	140065	Benign	not_specified	0.50331	.	0.39497	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6546	136365	9	38396502	G	A	140068	Benign	not_specified	0.92188	0.95393	0.9385	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6547	768301	9	43828112	A	G	706378	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6548	129120	9	71650752	A	G	134566	Benign	Friedreich_ataxia_1|not_specified|Cardiovascul...	.	0.99934	0.98482	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6549	196398	9	71831398	T	C	193559	Benign	not_specified	0.90381	0.92089	0.89417	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6550	44091	9	71843023	C	A	53259	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.75804	0.81146	0.77217	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6551	259554	9	71865932	G	A	253576	Benign	not_specified	0.40504	0.37042	0.35982	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6552	367237	9	71869473	G	A	319047	Likely_benign	Nonsyndromic_Hearing_Loss,_Dominant	.	0.5183	0.45667	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6553	508095	9	71990645	C	T	503181	Benign	not_specified	0.30532	0.39492	0.3131	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6554	367245	9	75136789	G	A	313238	Benign	Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom...	.	.	0.51218	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6555	367250	9	75231370	A	G	308681	Benign	Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndrom...	.	.	0.53954	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6556	47874	9	75303653	C	T	57038	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Domin...	0.52737	0.46095	0.51078	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6557	562091	9	75404222	G	GA	553260	Pathogenic	Deafness,_autosomal_recessive_7	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6558	47863	9	75431076	C	T	57027	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Domin...	0.10234	0.09272	0.04812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6559	367300	9	77376633	A	G	319708	Benign	Hypomagnesemia_1,_intestinal	0.15308	0.10159	0.16873	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6560	367301	9	77376647	T	C	308709	Benign	Hypomagnesemia_1,_intestinal	0.23543	0.21123	0.29493	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6561	367314	9	77407636	C	T	319714	Benign	Hypomagnesemia_1,_intestinal	0.13509	0.23504	0.26837	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6562	367337	9	79792438	G	C	319772	Likely_benign	Choreoacanthocytosis	.	.	0.08446	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6563	367371	9	79897117	G	A	313352	Likely_benign	Choreoacanthocytosis	0.1125	0.09155	0.08387	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6564	367399	9	79952468	A	T	319227	Benign	Choreoacanthocytosis	0.15495	0.10943	0.1248	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6565	367402	9	79954545	T	C	319826	Benign/Likely_benign	Choreoacanthocytosis|not_provided	0.20875	0.18191	0.16274	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6566	367404	9	79955305	A	AT	319827	Likely_benign	Choreoacanthocytosis	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6567	367428	9	79986057	A	G	319242	Benign	Choreoacanthocytosis|not_provided	0.39766	.	0.41514	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6568	367437	9	80031144	G	A	308831	Likely_benign	Choreoacanthocytosis	.	.	0.16534	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6569	367445	9	80031946	C	T	308846	Benign	Choreoacanthocytosis	.	.	0.57568	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6570	367449	9	80032300	C	A	319255	Benign	Choreoacanthocytosis	.	.	0.2494	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6571	517538	9	80851350	G	C	497120	Benign	not_specified	0.30126	0.41916	0.28375	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6572	517539	9	80851527	G	A	497057	Benign	not_specified	0.31213	0.37164	0.28395	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6573	367450	9	80912115	G	C	319878	Benign	Phosphoserine_aminotransferase_deficiency	0.80114	0.79009	0.76038	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6574	367454	9	80919756	T	G	313452	Benign	Phosphoserine_aminotransferase_deficiency	0.63563	0.62197	0.4994	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6575	403012	9	86468715	A	T	389874	Benign	not_specified	0.69591	.	0.65316	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6576	403013	9	86474115	T	C	389828	Benign	not_specified	0.14027	0.12277	0.12081	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6577	403016	9	86518796	T	C	389912	Benign	not_specified	0.14032	0.12257	0.12081	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6578	683368	9	93982932	C	T	664439	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6579	683351	9	94124414	T	C	664444	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6580	367493	9	94485768	GCTCT	G	319315	Benign	Brachydactyly|Robinow_syndrome,_autosomal_domi...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6581	199097	9	94485928	C	T	196256	Benign	Brachydactyly|Robinow_syndrome,_autosomal_domi...	0.71974	0.73136	0.75739	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6582	159818	9	94486321	C	T	168799	Benign	Brachydactyly|Robinow_syndrome,_autosomal_domi...	0.70074	0.71032	0.748	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6583	159815	9	94486688	G	A	168802	Benign	Brachydactyly|Robinow_syndrome,_autosomal_domi...	0.43265	0.42678	0.41534	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6584	159821	9	94495608	T	C	168809	Benign	Brachydactyly|Robinow_syndrome,_autosomal_domi...	0.67884	0.6318	0.64497	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6585	259431	9	94518328	C	T	253585	Benign	not_specified	0.7006	0.67524	0.623	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6586	159823	9	94538115	C	G	168811	Benign	Brachydactyly|Robinow_syndrome,_autosomal_domi...	0.24896	0.23534	0.19169	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6587	367550	9	94830356	C	A	319975	Benign/Likely_benign	Neuropathy_hereditary_sensory_and_autonomic_ty...	0.02061	.	0.01158	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6588	678245	9	95477951	G	T	663918	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6589	670372	9	95480251	G	A	664457	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6590	678244	9	95481975	C	G	664458	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6591	670371	9	95482536	G	C	663925	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6592	678242	9	95485323	C	CCCTGACA	664462	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6593	678240	9	95491094	T	C	663929	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6594	678238	9	95526667	G	C	664697	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6595	256318	9	97365642	G	A	253586	Benign/Likely_benign	Fructose-biphosphatase_deficiency|not_specified	0.50561	0.52444	0.48702	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6596	256326	9	97365720	T	C	253587	Benign	Fructose-biphosphatase_deficiency|not_specified	0.88528	0.86373	0.90715	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6597	256324	9	97369083	G	A	253589	Benign/Likely_benign	Fructose-biphosphatase_deficiency|not_specified	0.50308	0.52659	0.48323	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6598	256323	9	97369149	C	T	253590	Benign	Fructose-biphosphatase_deficiency|not_specified	0.95441	0.95607	0.97644	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6599	256321	9	97372172	C	T	253592	Benign	not_specified	0.40966	0.4015	0.34425	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6600	367618	9	98205443	C	A	320065	Likely_benign	Holoprosencephaly_sequence|Gorlin_syndrome	.	.	0.21526	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6601	41663	9	98209594	G	A	50102	Benign	Holoprosencephaly_sequence|Gorlin_syndrome|Her...	0.29925	.	0.39677	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6602	255668	9	98270646	T	TGCCGCC	253618	Likely_benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6603	668604	9	98279370	T	A	664509	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6604	255510	9	99006578	T	C	253620	Benign	not_specified	0.29633	0.22662	0.1887	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6605	255509	9	99013663	A	G	253621	Benign	not_specified	0.88029	0.84798	0.86741	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6606	255508	9	99064202	C	CA	253622	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6607	190206	9	100459578	T	C	187985	Benign	Xeroderma_pigmentosum|not_specified	0.74696	.	0.64637	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6608	95096	9	100616583	T	C	100996	Benign	Bamforth_syndrome|not_specified	0.80271	0.80053	0.88279	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6609	95098	9	100617021	C	T	100998	Benign	Bamforth_syndrome|not_specified	.	0.68639	0.6861	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6610	132156	9	101340316	T	C	18370	.	.	0.18691	0.16858	0.16114	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6611	262847	9	101533220	C	T	253637	Benign	not_specified	0.96304	.	0.8752	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6612	262851	9	101558444	G	A	253655	Benign	not_specified	.	0.26053	0.1238	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6613	262843	9	101558609	G	A	253656	Benign	not_specified	.	0.69231	0.26597	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6614	162170	9	101908365	T	G	171883	not_provided	not_provided	.	.	0.30092	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6615	364112	9	101912471	A	G	313819	Benign	Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th...	.	.	0.33187	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6616	364155	9	101914387	G	A	320250	Benign	Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th...	.	.	0.32588	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6617	364189	9	101916165	T	G	313875	Benign	Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_1|Th...	.	.	0.32987	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6618	364220	9	102861613	T	G	310311	Benign	Nephronophthisis|not_specified	.	.	0.27875	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6619	95594	9	103015184	T	C	101492	Benign	Nephronophthisis|Infantile_nephronophthisis|no...	0.3097	0.32244	0.21046	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6620	95597	9	103054951	T	C	101495	Benign	Nephronophthisis|Infantile_nephronophthisis|no...	0.57389	.	0.40735	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6621	260414	9	103059476	A	G	253246	Benign	not_specified	0.64954	.	0.75799	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6622	674703	9	103341014	G	A	663440	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6623	364267	9	104123762	G	T	310356	Benign	Hypercholanemia	.	.	0.73143	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6624	364275	9	104124664	C	T	306252	Benign	Hypercholanemia	0.79794	0.78863	0.71406	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6625	257518	9	104133628	C	T	253251	Benign	not_specified|Hypercholanemia	0.6314	0.64611	0.5629	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6626	364288	9	104182940	T	C	306261	Benign	Hereditary_fructosuria	.	.	0.4978	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6627	364306	9	104184022	G	A	315824	Benign	Hereditary_fructosuria	.	.	0.44189	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6628	364341	9	107544700	C	T	306320	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	.	.	0.85763	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6629	364350	9	107545129	TA	T	310442	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6630	364351	9	107545156	G	A	310443	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	.	.	0.44109	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6631	364361	9	107545903	G	A	315940	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	.	.	0.44549	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6632	364398	9	107562804	T	C	315817	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	0.58504	0.69363	0.53834	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6633	364451	9	107602678	G	A	306387	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	0.09895	.	0.08207	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6634	9506	9	107620867	C	T	24545	Benign	Tangier_disease|Coronary_heart_disease_in_fami...	.	0.32994	0.4397	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6635	364460	9	107624029	C	T	315879	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	0.32224	.	0.3724	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6636	364468	9	107665978	C	G	306401	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	0.08917	0.17898	0.14177	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6637	364470	9	107666035	G	GC	316138	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6638	364481	9	107690450	G	A	316143	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	.	.	0.36122	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6639	369619	9	107690535	G	C	353848	Benign	Tangier_disease|Familial_High_Density_Lipoprot...	.	.	0.78714	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6640	364484	9	108335958	G	C	316150	Likely_benign	Fukuyama_congenital_muscular_dystrophy|Dilated...	.	.	0.16693	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6641	93522	9	108366734	G	A	99427	Benign/Likely_benign	Fukuyama_congenital_muscular_dystrophy|Limb-gi...	0.26457	0.24461	0.15815	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6642	680195	9	108369060	G	A	663471	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6643	672695	9	108370361	T	C	663573	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6644	671112	9	108380004	G	A	662952	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6645	93510	9	108380355	C	A	99415	Benign/Likely_benign	Fukuyama_congenital_muscular_dystrophy|Limb-gi...	0.29088	0.25185	0.17832	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6646	283468	9	108401923	GA	G	267705	Likely_benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6647	364524	9	108402586	G	A	315938	Uncertain_significance	Fukuyama_congenital_muscular_dystrophy|Dilated...	.	.	0.10923	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6648	364525	9	108402607	G	A	306441	Uncertain_significance	Fukuyama_congenital_muscular_dystrophy|Dilated...	.	.	0.06769	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6649	669660	9	108483589	G	A	663588	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6650	364536	9	111630044	G	T	306458	Benign	Familial_dysautonomia	.	.	0.44728	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6651	364545	9	111630324	C	T	316271	Likely_benign	Familial_dysautonomia	.	.	0.07508	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6652	681916	9	111631647	C	T	663463	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6653	681954	9	111636986	C	T	663481	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6654	673446	9	111637304	G	T	663589	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6655	681952	9	111637471	G	T	663467	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6656	681949	9	111640524	G	C	663482	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6657	681948	9	111640553	T	G	662964	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6658	681947	9	111640595	A	G	662967	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6659	681945	9	111640631	C	T	663596	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6660	681892	9	111640667	C	T	663483	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6661	681891	9	111641527	G	A	663469	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6662	259113	9	111641825	G	A	253259	Benign/Likely_benign	Familial_dysautonomia|not_specified|not_provided	0.2119	0.19878	0.24501	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6663	681939	9	111643875	G	A	663485	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6664	681918	9	111651407	A	C	662987	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6665	259112	9	111651620	A	T	253260	Benign/Likely_benign	Familial_dysautonomia|not_specified|not_provided	0.21252	.	0.24581	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6666	673445	9	111653460	A	G	663484	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6667	681914	9	111655064	A	G	662994	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6668	683637	9	111655932	A	T	663487	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6669	681912	9	111661150	G	A	663617	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6670	670532	9	111670707	T	C	663525	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6671	681867	9	111670824	T	C	663527	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6672	681861	9	111673137	G	C	663029	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6673	681856	9	111678428	T	A	663531	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6674	259115	9	111679964	C	CA	253264	Benign/Likely_benign	Familial_dysautonomia|not_specified	0.1236	0.0959	0.08646	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6675	681855	9	111680865	T	C	663034	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6676	137583	9	111688828	C	T	141286	Benign/Likely_benign	Familial_dysautonomia|not_specified|not_provided	0.07327	0.09356	0.07987	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6677	681852	9	111693132	T	C	663507	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6678	476298	9	111929420	CG	GC	458810	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6679	671339	9	113444694	A	G	663691	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6680	673467	9	113449078	G	A	663044	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6681	683224	9	113449271	G	C	663045	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6682	259808	9	113449377	T	C	253267	Benign	not_specified	0.04926	0.05697	0.05711	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6683	667461	9	113457348	G	A	663517	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6684	129635	9	113457726	G	A	135081	Benign	not_specified|Congenital_Myasthenic_Syndrome,_...	0.15448	0.24156	0.17013	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6685	684084	9	113459369	G	A	663693	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6686	259811	9	113459768	C	G	253270	Benign	not_specified|not_provided	0.05828	.	0.06909	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6687	683225	9	113490776	C	T	663697	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6688	684078	9	113509778	C	T	663048	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6689	259813	9	113524511	AT	A	253272	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6690	667462	9	113539185	T	A	663712	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6691	667463	9	113539210	G	T	663717	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6692	673483	9	113546795	A	G	663538	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6693	684079	9	113547001	A	C	663521	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6694	259801	9	113547322	T	C	253275	Benign	not_specified|not_provided	0.94181	0.94489	0.97005	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6695	259804	9	113550168	T	C	253278	Benign	not_specified|not_provided	0.48034	0.48648	0.3766	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6696	129633	9	113563143	G	T	135079	Benign	Pena-Shokeir_syndrome_type_I|Myasthenic_syndro...	0.09469	.	0.10683	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6697	364618	9	116148630	C	T	306496	Benign	Porphobilinogen_synthase_deficiency	.	.	0.78055	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6698	364621	9	116148767	CTT	C	316070	Likely_benign	Porphobilinogen_synthase_deficiency	.	.	0.01198	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6699	364632	9	116150109	G	A	306504	Benign	Porphobilinogen_synthase_deficiency	.	.	0.59764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6700	364663	9	116163570	C	CGGGG	316096	Uncertain_significance	Porphobilinogen_synthase_deficiency	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6701	678779	9	117166034	T	C	663054	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6702	45672	9	117166246	A	G	54837	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.41073	0.47856	0.40635	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6703	163045	9	117166338	G	C	174544	Benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.99354	0.99796	0.99101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6704	45663	9	117169033	A	G	54828	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.492	0.5311	0.48163	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6705	678778	9	117169300	A	G	663059	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6706	671522	9	117169973	G	GGTCAAA	663523	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6707	678777	9	117185395	A	G	663727	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6708	45650	9	117186677	A	G	54815	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.76211	0.79413	0.83007	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6709	45640	9	117188566	C	T	54805	Benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.98062	0.99418	0.97724	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6710	137078	9	117265406	C	T	140781	Benign	not_specified	.	.	0.25539	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6711	45644	9	117266965	C	T	54809	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.32273	0.33393	0.25559	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6712	364700	9	117267172	G	A	316505	Likely_benign	Retinitis_pigmentosa-deafness_syndrome|Nonsynd...	.	.	0.25539	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6713	364704	9	117267472	G	T	316132	Likely_benign	Retinitis_pigmentosa-deafness_syndrome|Nonsynd...	.	.	0.27616	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6714	364707	9	117267591	C	T	316135	Likely_benign	Retinitis_pigmentosa-deafness_syndrome|Nonsynd...	.	.	0.27636	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6715	364711	9	117267681	AGCCTCCGC	A	316153	Likely_benign	Retinitis_pigmentosa-deafness_syndrome|Nonsynd...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6716	95495	9	119461275	G	A	101394	Benign/Likely_benign	Sarcotubular_myopathy|Bardet-Biedl_syndrome|no...	0.1068	0.10947	0.10363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6717	364723	9	119462112	C	T	310785	Benign	Bardet-Biedl_syndrome|Limb-Girdle_Muscular_Dys...	.	.	0.94908	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6718	771880	9	121929932	C	T	700773	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6719	668863	9	123202516	T	C	663577	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6720	136705	9	123220829	A	G	140408	Benign/Likely_benign	Primary_autosomal_recessive_microcephaly_3|not...	0.18407	0.15039	0.23283	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6721	158132	9	123249744	A	C	168738	Likely_benign	not_specified	0.16325	0.14891	0.21046	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6722	158127	9	123280950	T	C	167980	Benign	not_specified|not_provided	0.83692	0.87626	0.79573	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6723	678304	9	123287592	C	G	663781	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6724	158171	9	123290996	C	A	168744	Likely_benign	not_specified	0.0958	.	0.14697	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6725	21657	9	123291036	C	G	34509	Benign	Primary_autosomal_recessive_microcephaly_3|not...	0.84838	0.87717	0.80112	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6726	136707	9	123301346	T	G	140410	Benign/Likely_benign	not_specified|Primary_Microcephaly,_Recessive	0.06028	.	0.11661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6727	678303	9	123308276	T	C	663551	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6728	668860	9	123312819	C	T	663554	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6729	670443	9	123313246	T	C	663578	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6730	678302	9	123330813	T	C	663082	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6731	95896	9	123342259	C	A	101792	Benign	Primary_autosomal_recessive_microcephaly_3|not...	0.97378	0.99214	0.98043	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6732	95895	9	123342275	A	G	101791	Benign	Primary_autosomal_recessive_microcephaly_3|not...	0.95879	0.98782	0.96546	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6733	668859	9	123342609	G	A	663084	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6734	403564	9	123671520	G	A	389868	Benign	not_specified	0.69376	0.68768	0.73203	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6735	402454	9	123769200	C	T	389792	Benign	not_specified	0.32485	0.45864	0.40475	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6736	402455	9	123780005	G	A	389839	Benign	not_specified	0.32454	0.45698	0.40575	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6737	403271	9	125391770	C	CA	390573	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6738	180703	9	126139229	G	A	178868	Benign	Focal_segmental_glomerulosclerosis_9|not_provided	0.00115	0.00135	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6739	701815	9	127243637	A	G	687351	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6740	701816	9	127244955	G	A	687352	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6741	258622	9	129377855	G	C	253286	Benign	Nail-patella_syndrome|not_specified	0.29502	0.34027	0.22764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6742	364909	9	129459314	C	T	310869	Benign	Nail-patella_syndrome	.	.	0.21805	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6743	364912	9	129459438	G	A	316399	Benign	Nail-patella_syndrome	.	.	0.20567	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6744	364913	9	129459478	C	T	316653	Benign	Nail-patella_syndrome	.	.	0.23403	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6745	364935	9	129460312	A	G	310880	Benign	Nail-patella_syndrome	.	.	0.41034	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6746	364939	9	129460396	C	T	306743	Benign	Nail-patella_syndrome	.	.	0.21685	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6747	364952	9	129460914	A	G	310893	Benign	Nail-patella_syndrome	.	.	0.49701	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6748	364957	9	129461318	CTT	C	316709	Benign	Nail-patella_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6749	364961	9	129461714	C	T	316717	Benign	Nail-patella_syndrome	.	.	0.28734	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6750	364964	9	129461912	A	G	316722	Benign	Nail-patella_syndrome	.	.	0.30152	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6751	364967	9	129462072	T	C	316735	Benign	Nail-patella_syndrome	.	.	0.27915	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6752	364968	9	129462076	G	A	316736	Benign	Nail-patella_syndrome	.	.	0.21546	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6753	364979	9	129462501	G	T	310920	Benign	Nail-patella_syndrome	.	.	0.54074	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6754	364982	9	129462563	A	G	310921	Benign	Nail-patella_syndrome	.	.	0.54812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6755	364983	9	129462594	T	C	316487	Benign	Nail-patella_syndrome	.	.	0.54832	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6756	364987	9	129462687	C	A	316496	Benign	Nail-patella_syndrome	.	.	0.53235	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6757	364992	9	129462901	T	C	316768	Benign	Nail-patella_syndrome	.	.	0.55112	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6758	670536	9	130216951	G	T	663086	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6759	683120	9	130217050	C	G	663090	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6760	365009	9	130219669	C	T	306822	Benign	Charcot-Marie-Tooth_disease_type_2P|Charcot-Ma...	0.60549	.	0.55751	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6761	670537	9	130219743	T	C	663582	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6762	670538	9	130221388	T	C	663102	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6763	683123	9	130223754	G	A	663557	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6764	684245	9	130224927	A	G	663784	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6765	670497	9	130236243	G	A	663794	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6766	683118	9	130240980	A	G	663806	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6767	670496	9	130241822	T	C	663811	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6768	365020	9	130242109	C	T	310994	Benign	Charcot-Marie-Tooth_disease_type_2P|Charcot-Ma...	0.44623	0.42325	0.35204	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6769	365021	9	130242166	A	G	306833	Benign	Charcot-Marie-Tooth_disease_type_2P|Charcot-Ma...	0.74181	0.77762	0.72724	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6770	683125	9	130245545	G	C	663106	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6771	684248	9	130248366	T	A	663813	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6772	683127	9	130251512	G	A	663820	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6773	683119	9	130253286	G	GA	663821	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6774	683129	9	130258160	A	T	663591	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6775	365033	9	130259618	A	C	310996	Benign	Charcot-Marie-Tooth_disease_type_2P|Charcot-Ma...	0.73858	.	0.72883	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6776	670143	9	130430116	A	G	663132	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6777	670144	9	130446493	A	G	663138	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6778	439396	9	130630639	A	G	433354	Benign	not_specified	0.99816	0.99945	0.9982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6779	128921	9	130698029	G	C	134368	Benign	Congenital_disorder_of_glycosylation|Congenita...	0.8044	0.7873	0.68351	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6780	128920	9	130698043	A	G	134367	Benign	Congenital_disorder_of_glycosylation|Congenita...	0.80571	.	0.73103	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6781	679336	9	130699917	G	A	663618	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6782	365118	9	130700251	T	C	306884	Benign	Congenital_disorder_of_glycosylation|not_provided	.	.	0.68391	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6783	365125	9	130700727	T	C	306897	Benign	Congenital_disorder_of_glycosylation|not_provided	.	.	0.68391	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6784	403029	9	130914170	C	G	389888	Benign	not_specified	0.4757	.	0.47923	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6785	679298	9	130981064	C	T	663636	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6786	679299	9	130981145	T	A	663620	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6787	679313	9	130981666	G	C	663638	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6788	679300	9	130982416	C	T	663874	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6789	679301	9	130984430	C	A	663639	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6790	380777	9	130984755	C	T	370266	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.40428	0.53255	0.45467	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6791	679316	9	130988615	C	A	663151	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6792	679303	9	130988616	C	T	663625	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6793	679304	9	131001692	G	C	663881	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6794	679307	9	131012256	T	C	663664	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6795	679309	9	131015279	G	A	663887	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6796	128832	9	131088076	G	A	134280	Benign	not_specified|not_provided	0.0925	.	0.13339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6797	683561	9	131088464	C	T	663678	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6798	380011	9	131095112	A	C	372181	Benign	not_specified	0.35422	0.245	0.3778	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6799	676201	9	131095332	C	T	663641	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6800	256859	9	131277769	CTTATTTT	C	253313	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6801	198109	9	131285955	A	G	195270	Benign	Lethal_arthrogryposis_with_anterior_horn_cell_...	0.26472	0.26787	0.34744	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6802	256856	9	131289600	G	T	253316	Benign	not_specified	0.20268	.	0.26937	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6803	256858	9	131298590	A	G	253318	Benign	not_specified	0.26242	0.26798	0.34705	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6804	365136	9	131303522	G	A	317080	Benign	Lethal_arthrogryposis_with_anterior_horn_cell_...	.	.	0.26597	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6805	680786	9	131329591	G	A	663889	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6806	670130	9	131331320	C	T	663680	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6807	680787	9	131331450	A	G	663682	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6808	670623	9	131337389	C	T	663894	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6809	160023	9	131337661	A	C	168756	Likely_benign	not_specified	0.96871	.	0.95148	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6810	670131	9	131337843	A	G	663177	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6811	680788	9	131340810	T	A	663650	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6812	680789	9	131340845	T	C	663193	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6813	680790	9	131341642	T	C	663690	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6814	670132	9	131341669	G	A	663196	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6815	160001	9	131347165	G	A	168766	Likely_benign	not_specified	0.96917	0.99098	0.96905	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6816	160002	9	131347169	C	T	168767	Benign	not_specified|not_provided	0.73328	0.79283	0.61921	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6817	670575	9	131348440	C	G	663667	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6818	680791	9	131348501	G	A	663702	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6819	160009	9	131360750	C	T	168774	Benign	Seizures|not_specified|Early_Infantile_Epilept...	0.76042	0.80638	0.64277	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6820	670576	9	131366070	G	A	663718	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6821	160013	9	131374165	C	G	168778	Likely_benign	not_specified	0.96886	0.99113	0.96825	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6822	139297	9	131379967	C	T	143000	Benign	Seizures|not_specified|Early_Infantile_Epilept...	0.73282	0.79132	0.61701	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6823	675006	9	131380149	C	G	663732	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6824	160018	9	131380225	A	C	168783	Benign	not_specified|not_provided	0.21067	0.18663	0.30931	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6825	160021	9	131388643	C	T	168786	Benign	not_specified|not_provided	0.72359	0.79151	0.61142	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6826	670577	9	131389194	G	C	663692	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6827	670133	9	131389215	T	C	663237	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6828	670134	9	131389544	C	T	663239	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6829	680792	9	131390472	C	A	663251	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6830	160025	9	131392553	G	A	168789	Likely_benign	not_specified	0.93065	0.97493	0.91933	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6831	680795	9	131392904	G	GT	663734	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6832	680796	9	131392942	T	G	663253	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6833	516214	9	131397479	G	A	502578	Benign	not_specified	0.73259	0.78827	0.62141	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6834	516213	9	131398636	C	T	502261	Benign	not_specified	0.70688	0.80456	0.60144	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6835	516212	9	131403096	A	G	502581	Benign	not_specified	0.83546	0.82682	0.74002	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6836	516203	9	131418828	A	C	502690	Benign	Short-rib_thoracic_dysplasia_11_with_or_withou...	0.99841	0.9998	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6837	403061	9	131670919	T	C	389851	Benign	not_specified	0.58574	0.69438	0.57109	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6838	439873	9	131670952	C	T	433677	Benign	Agammaglobulinemia_5,_autosomal_dominant	0.01984	0.03668	0.03055	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6839	403263	9	131761437	A	G	389857	Benign	not_specified	0.29502	0.34937	0.26178	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6840	403264	9	131761899	A	G	389889	Benign	not_specified	0.29571	0.35673	0.27915	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6841	403265	9	131764014	A	C	389875	Benign	not_specified	0.171	0.15003	0.24441	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6842	403266	9	131767668	A	C	389796	Benign	not_specified	0.42534	0.43128	0.45168	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6843	365216	9	132575426	GC	G	307031	Likely_benign	Dystonia_1	.	.	0.15675	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6844	365225	9	132575837	C	A	316771	Likely_benign	Dystonia_1	.	.	0.07867	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6845	365229	9	132576060	C	A	316779	Likely_benign	Dystonia_1	.	.	0.15875	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6846	255134	9	132585058	G	A	253324	Benign/Likely_benign	Dystonia_1|not_specified	0.23428	0.22747	0.22624	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6847	365239	9	133320102	G	GT	307052	Uncertain_significance	Citrullinemia_type_I	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6848	683297	9	133327439	T	C	663720	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6849	92370	9	133346920	A	G	98281	Benign	Citrullinemia_type_I|not_specified	0.76511	0.85003	0.79233	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6850	802519	9	133346983	A	G	790846	Benign	Citrullinemia_type_I	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6851	683317	9	133347080	G	A	663936	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6852	254749	9	133355874	A	G	253332	Benign	not_specified	0.88874	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6853	92376	9	133364757	T	C	98287	Benign/Likely_benign	Citrullinemia_type_I|not_specified	0.10288	0.09416	0.07668	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6854	291084	9	133884600	C	T	275321	Conflicting_interpretations_of_pathogenicity	not_specified|not_provided	.	0	0.00499	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6855	435741	9	133901819	CC	AG	428927	Benign/Likely_benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6856	129474	9	133911598	A	G	134920	Benign/Likely_benign	Cortical_malformations,_occipital|not_specified	0.87117	.	0.84824	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6857	129477	9	133911706	C	T	134923	Benign/Likely_benign	Cortical_malformations,_occipital|not_specified	0.39668	0.45579	0.39836	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6858	129448	9	133914321	C	T	134894	Likely_benign	not_specified	0.07744	0.07746	0.07488	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6859	129449	9	133914570	G	A	134895	Benign/Likely_benign	Cortical_malformations,_occipital|not_specified	0.20652	0.21179	0.15495	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6860	682995	9	133921251	C	G	663254	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6861	684032	9	133921333	G	A	663740	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6862	129451	9	133924451	C	T	134897	Benign	Cortical_malformations,_occipital|not_specified	0.27311	0.28405	0.25859	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6863	129452	9	133927878	A	G	134898	Likely_benign	not_specified	0.495	0.45924	0.47125	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6864	129454	9	133928345	C	T	134900	Benign/Likely_benign	Cortical_malformations,_occipital|not_specified	0.491	0.44957	0.47983	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6865	682996	9	133932240	A	C	663262	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6866	682997	9	133932676	C	T	663264	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6867	682998	9	133936334	G	A	663747	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6868	670957	9	133936381	G	A	663272	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6869	129456	9	133936571	C	G	134902	Benign/Likely_benign	Cortical_malformations,_occipital|not_specified	0.86512	.	0.78674	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6870	682999	9	133936775	C	T	663278	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6871	684033	9	133942844	T	C	663951	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6872	684035	9	133942872	G	A	663954	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6873	684036	9	133942889	A	C	663728	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6874	684039	9	133942899	G	A	663279	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6875	684041	9	133943145	C	G	663751	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6876	669392	9	133943172	T	TG	663753	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6877	684043	9	133943181	C	T	663754	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6878	683000	9	133944065	G	A	663955	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6879	684044	9	133946574	G	A	663731	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6880	683003	9	133946774	C	T	663738	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6881	129458	9	133946909	G	A	134904	Benign	not_specified	0.33485	.	0.29293	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6882	129459	9	133946915	C	G	134905	Benign	not_specified	0.33485	0.36943	0.29313	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6883	129460	9	133948049	A	G	134906	Benign	Cortical_malformations,_occipital|not_specified	0.76757	0.79312	0.69908	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6884	683006	9	133954288	C	T	663280	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6885	129464	9	133962853	C	T	134910	Benign	not_specified	0.20621	0.23594	0.16773	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6886	129465	9	133962930	C	T	134911	Benign/Likely_benign	Cortical_malformations,_occipital|not_specified	0.30201	0.28471	0.22205	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6887	129466	9	133963008	G	A	134912	Benign	not_specified	0.20345	0.23092	0.16334	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6888	129467	9	133963101	A	G	134913	Benign/Likely_benign	Cortical_malformations,_occipital|not_specified	0.37706	0.40798	0.37121	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6889	683007	9	133963322	C	T	663285	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6890	683933	9	134382111	G	A	663742	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6891	667978	9	134382556	G	A	663286	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6892	667979	9	134382673	C	T	663960	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6893	683940	9	134383958	C	T	663758	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6894	667980	9	134384066	A	G	663288	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6895	260149	9	134384277	T	C	253336	Benign	not_specified|not_provided	0.88067	0.92329	0.87101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6896	667981	9	134384500	C	T	663761	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6897	667982	9	134384513	A	G	663762	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6898	227021	9	134385436	A	G	229676	Benign	not_specified	0.87929	0.92302	0.87061	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6899	260151	9	134385599	A	G	253338	Benign	not_specified|not_provided	0.88052	.	0.87081	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6900	667983	9	134385977	G	A	663291	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6901	683942	9	134386425	T	A	663745	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6902	260152	9	134386675	T	G	253339	Benign	not_specified|not_provided	0.97563	0.99313	0.98123	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6903	167519	9	134386744	T	C	177969	Benign	not_specified	0.88052	0.92308	0.87081	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6904	260139	9	134386903	G	A	253340	Benign	not_specified|not_provided	0.88059	0.92311	0.87081	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6905	668002	9	134387038	G	A	663967	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6906	668003	9	134387100	G	A	663294	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6907	683944	9	134387133	T	C	663746	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6908	668004	9	134387255	C	T	663970	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6909	668005	9	134387315	C	G	663764	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6910	167520	9	134387488	T	C	177970	Benign	not_specified	0.88052	0.92319	0.87081	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6911	669393	9	134388340	T	TC	663766	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6912	668006	9	134388446	G	A	663767	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6913	670963	9	134394163	A	G	663299	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6914	668009	9	134394646	A	G	663752	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6915	260142	9	134395628	C	G	253343	Benign	not_specified|not_provided	0.84107	0.90084	0.83147	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6916	668011	9	134395687	C	A	663787	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6917	683948	9	134396394	A	G	663308	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6918	668013	9	134397057	C	G	663795	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6919	668014	9	134397186	T	C	663987	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6920	95460	9	134397624	C	T	101359	Benign	not_specified|Limb-Girdle_Muscular_Dystrophy,_...	0.84169	0.89961	0.83167	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6921	668015	9	134398249	C	T	663768	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6922	260136	9	134398534	T	C	253349	Benign	not_specified|Limb-Girdle_Muscular_Dystrophy,_...	0.87898	0.92445	0.87041	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6923	288427	9	134398719	T	C	272664	Benign	not_specified|Limb-Girdle_Muscular_Dystrophy,_...	.	.	0.87081	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6924	365290	9	134398771	T	C	307106	Benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.87121	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6925	365291	9	134398778	A	G	311230	Benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.98123	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6926	365293	9	134398841	C	T	311243	Benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.86641	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6927	365295	9	134398946	T	C	317271	Benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.749	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6928	365305	9	135137364	T	C	307130	Likely_benign	Amyotrophic_Lateral_Sclerosis,_Dominant|Ataxia...	.	.	0.09545	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6929	365332	9	135139193	ATC	A	307148	Likely_benign	Amyotrophic_Lateral_Sclerosis,_Dominant|Ataxia...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6930	95669	9	135139901	T	C	101566	Benign	not_specified|Amyotrophic_Lateral_Sclerosis,_D...	0.44418	0.39261	0.53874	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6931	260516	9	135150616	T	C	253351	Benign	not_specified	0.15134	0.17288	0.25	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6932	260514	9	135152439	A	G	253353	Benign/Likely_benign	not_specified|Amyotrophic_Lateral_Sclerosis,_D...	0.09419	0.09115	0.09465	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6933	260513	9	135153668	C	T	253354	Benign	not_specified	0.4431	0.38841	0.53395	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6934	95667	9	135172412	A	G	101564	Benign	not_specified|Amyotrophic_Lateral_Sclerosis,_D...	0.30717	0.28801	0.44169	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6935	95666	9	135173454	C	CA	101563	Benign	not_specified|Amyotrophic_Lateral_Sclerosis,_D...	0.22607	0.25283	0.374	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6936	95665	9	135173685	T	C	101562	Benign	not_specified|Amyotrophic_Lateral_Sclerosis,_D...	0.30678	0.27579	0.44309	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6937	95664	9	135187128	G	A	101561	Benign	not_specified	0.22543	.	0.3748	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6938	95663	9	135202829	T	C	101560	Benign	not_specified|Amyotrophic_Lateral_Sclerosis,_D...	0.69376	0.72516	0.55611	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6939	95662	9	135203231	C	T	101559	Benign	Amyotrophic_lateral_sclerosis_type_4|not_speci...	0.69307	0.72508	0.55611	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6940	95661	9	135203409	A	C	101558	Benign	not_specified|Amyotrophic_Lateral_Sclerosis,_D...	0.79294	.	0.64058	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6941	193716	9	135203838	G	A	190879	Benign/Likely_benign	not_specified|Amyotrophic_Lateral_Sclerosis,_D...	0.06705	0.10723	0.11422	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6942	95658	9	135206460	A	G	101555	Benign	not_specified|Amyotrophic_Lateral_Sclerosis,_D...	0.77545	0.7477	0.6266	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6943	365414	9	135767943	C	T	316990	Benign	Tuberous_sclerosis_syndrome|Focal_cortical_dys...	.	.	0.72584	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6944	365476	9	135770115	C	T	317457	Benign	Tuberous_sclerosis_syndrome|Focal_cortical_dys...	.	.	0.77336	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6945	365477	9	135770134	G	A	317459	Benign	Tuberous_sclerosis_syndrome|Focal_cortical_dys...	.	.	0.45068	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6946	365479	9	135770300	G	A	311481	Benign	Tuberous_sclerosis_syndrome|Focal_cortical_dys...	.	.	0.55212	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6947	365480	9	135770347	A	C	317467	Benign	Tuberous_sclerosis_syndrome|Focal_cortical_dys...	.	.	0.7482	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6948	365504	9	135771332	GA	G	317055	Benign	Tuberous_sclerosis_syndrome|Focal_cortical_dys...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6949	41697	9	135771987	C	CGCT	50136	Benign	Tuberous_sclerosis_syndrome|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6950	670691	9	135776034	C	T	663309	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6951	668726	9	135802298	A	G	663778	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6952	676422	9	136223043	C	G	663990	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6953	139377	9	136223366	G	A	143080	Benign	Leigh_syndrome|not_specified	.	0.53536	0.51198	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6954	666612	9	136291063	C	T	654535	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6955	242806	9	136301982	C	G	20852	Benign	Upshaw-Schulman_syndrome|not_specified	.	0.45302	0.27157	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6956	262450	9	136324239	C	A	253402	Benign	Upshaw-Schulman_syndrome|not_specified	0.24731	.	0.23063	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6957	680522	9	136401425	G	A	663780	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6958	680461	9	136401606	A	C	663992	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6959	680523	9	136402345	T	A	663995	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6960	680462	9	136403754	T	C	663997	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6961	680463	9	136404694	T	C	663786	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6962	680464	9	136404724	A	G	663812	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6963	680465	9	136409367	T	C	663816	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6964	680466	9	136409404	G	C	663817	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6965	680467	9	136409420	A	G	663999	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6966	680519	9	136409457	A	G	663818	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6967	680468	9	136409529	C	T	664001	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6968	365578	9	136409580	T	G	307319	Benign	Geleophysic_dysplasia_1|Geleophysic_dysplasia|...	0.87713	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6969	680470	9	136409854	C	T	663789	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6970	680471	9	136412041	C	T	664007	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6971	365581	9	136412170	C	T	311619	Benign	Geleophysic_dysplasia_1|Geleophysic_dysplasia|...	0.87537	0.81938	0.72404	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6972	365582	9	136412236	A	T	307323	Benign	Geleophysic_dysplasia_1|Geleophysic_dysplasia|...	0.87552	0.81968	0.72464	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6973	365583	9	136412255	A	C	307324	Benign	Geleophysic_dysplasia_1|Geleophysic_dysplasia|...	0.8756	.	0.72464	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6974	365585	9	136412346	C	T	311626	Benign	Geleophysic_dysplasia_1|Geleophysic_dysplasia|...	0.87498	0.81809	0.72045	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6975	680472	9	136412382	T	C	664018	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6976	518396	9	136434598	A	G	508836	Benign	Geleophysic_dysplasia_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6977	365614	9	136440144	G	A	311656	Benign	Geleophysic_dysplasia	.	.	0.46366	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6978	217759	9	136500515	T	C	214409	Benign	Orthostatic_hypotension_1	.	.	0.78734	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6979	217758	9	136505114	A	G	214410	Benign	Orthostatic_hypotension_1	0.5732	0.45987	0.42991	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6980	365637	9	136505127	C	T	307375	Likely_benign	Orthostatic_hypotension_1	0.04498	.	0.02796	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6981	365653	9	136509448	C	G	317212	Benign	Orthostatic_hypotension_1	0.1414	.	0.1244	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6982	365661	9	136518097	A	G	317218	Benign	Orthostatic_hypotension_1	0.52545	0.55707	0.62121	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6983	365667	9	136522187	A	G	317226	Benign	Orthostatic_hypotension_1	0.23297	0.27337	0.24042	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6984	768335	9	136637177	A	ACACACGGCCCCGGCGGTCACTGCGTGAGGGC	777727	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6985	365701	9	137533787	T	G	311702	Benign	Ehlers-Danlos_syndrome,_type_7A|not_provided	.	.	0.9994	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6986	683369	9	137582487	C	T	663804	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6987	672237	9	137582580	G	A	663826	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6988	672239	9	137593392	C	T	663370	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6989	683371	9	137618792	G	A	663819	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6990	672240	9	137618970	G	A	663829	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6991	136922	9	137619195	C	T	140625	Benign	Ehlers-Danlos_syndrome,_type_7A|not_specified|...	0.33215	.	0.34265	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6992	672241	9	137619425	T	G	663853	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6993	683374	9	137619514	G	C	663834	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6994	672242	9	137620336	G	A	663854	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6995	255100	9	137620474	C	T	253405	Benign	not_specified|not_provided	0.37137	.	0.40895	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6996	672243	9	137620847	A	C	663845	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6997	255102	9	137622033	A	G	253406	Benign	not_specified|not_provided	0.37142	0.45932	0.40815	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6998	255101	9	137622039	G	A	253407	Benign	not_specified|not_provided	0.37098	0.45904	0.40875	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
6999	672244	9	137622455	A	C	664051	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7000	672245	9	137623193	C	T	663850	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7001	255049	9	137623555	T	C	253410	Benign	Ehlers-Danlos_syndrome,_classic_type|not_speci...	0.37982	.	0.41933	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7002	439524	9	137623601	C	G	433429	Benign	Ehlers-Danlos_syndrome,_classic_type|not_provided	.	.	0.70807	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7003	683357	9	137630015	C	T	663855	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7004	678461	9	137658608	A	G	664110	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7005	672246	9	137658730	T	C	664115	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7006	673129	9	137659000	C	T	663891	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7007	255061	9	137659236	C	T	253422	Benign	not_specified|not_provided	0.0233	0.02732	0.03055	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7008	670978	9	137660194	G	T	663893	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7009	670979	9	137660375	A	G	664119	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7010	673131	9	137660455	T	C	663897	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7011	678518	9	137660532	G	C	663418	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7012	683367	9	137664376	T	G	663888	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7013	673132	9	137664871	G	C	663914	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7014	674554	9	137666528	G	A	664145	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7015	669861	9	137667008	G	T	663916	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7016	136866	9	137672012	C	T	140569	Benign	not_specified|not_provided	0.35876	0.40884	0.28794	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7017	669630	9	137672282	A	G	663438	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7018	669899	9	137674224	C	G	663442	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7019	255062	9	137674488	G	A	253423	Benign	not_specified|not_provided	0.17038	0.13494	0.15296	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7020	674557	9	137676675	C	T	664176	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7021	674560	9	137676745	T	C	663928	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7022	683375	9	137677588	A	C	664183	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7023	255067	9	137677921	C	T	253428	Benign	not_specified	0.07373	0.08641	0.0609	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7024	673905	9	137677985	C	T	663450	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7025	672247	9	137678038	T	C	663948	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7026	255069	9	137686906	C	T	253430	Benign	not_specified|not_provided	0.65985	0.61135	0.69169	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7027	671001	9	137687038	A	G	663965	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7028	672248	9	137687314	C	T	663454	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7029	672249	9	137688048	T	C	664185	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7030	672275	9	137688427	T	G	663904	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7031	669635	9	137689033	T	TTC	663985	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7032	673590	9	137689981	C	T	664194	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7033	669741	9	137693499	G	C	664002	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7034	674562	9	137696713	C	T	663473	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7035	674563	9	137697210	A	G	664009	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7036	683378	9	137700749	T	G	663910	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7037	674564	9	137700943	C	T	664015	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7038	683381	9	137701391	G	A	664237	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7039	683384	9	137701802	A	G	664017	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7040	255078	9	137702059	G	C	253438	Benign	not_specified	0.23835	0.14376	0.2472	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7041	255081	9	137702200	G	C	253442	Benign	not_specified	0.48698	.	0.45288	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7042	255082	9	137704414	G	A	253443	Benign	not_specified	0.11379	0.10189	0.10503	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7043	136881	9	137704433	G	A	140584	Benign	not_specified|not_provided	0.11387	0.1082	0.10523	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7044	683385	9	137706385	A	G	664023	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7045	683386	9	137708121	G	A	664255	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7046	439526	9	137709780	T	C	433431	Benign	Ehlers-Danlos_syndrome,_classic_type	.	.	0.58227	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7047	136900	9	137711997	G	C	140603	Benign	Ehlers-Danlos_syndrome,_type_7A|not_specified|...	0.42519	.	0.40815	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7048	683387	9	137712327	C	G	664266	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7049	683393	9	137712390	T	C	663949	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7050	255089	9	137714027	T	C	253450	Benign	not_specified	0.66723	0.56585	0.60943	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7051	674275	9	137715450	C	T	663508	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7052	672278	9	137716227	A	G	664054	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7053	255092	9	137717610	T	C	253454	Benign	not_specified|not_provided	0.71198	0.7258	0.74601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7054	672279	9	137717869	C	T	664058	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7055	672281	9	137722170	G	A	664291	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7056	668951	9	137722311	C	T	664072	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7057	365741	9	137734232	C	T	311762	Benign	Ehlers-Danlos_syndrome,_type_7A	.	.	0.7514	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7058	365746	9	137734416	C	T	317325	Benign	Ehlers-Danlos_syndrome,_type_7A	.	.	0.34944	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7059	365760	9	137734882	C	A	307524	Benign	Ehlers-Danlos_syndrome,_type_7A|Ehlers-Danlos_...	.	.	0.32528	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7060	365764	9	137735017	T	TAGGG	307541	Benign	Ehlers-Danlos_syndrome,_type_7A	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7061	365768	9	137735232	GCTAT	G	311778	Benign	Ehlers-Danlos_syndrome,_type_7A	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7062	365769	9	137735274	A	T	317776	Benign	Ehlers-Danlos_syndrome,_type_7A	.	.	0.60643	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7063	365791	9	137736544	G	T	307555	Benign	Ehlers-Danlos_syndrome,_type_7A	.	.	0.75739	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7064	365795	9	137736650	T	C	317385	Benign	Ehlers-Danlos_syndrome,_type_7A	.	.	0.57608	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7065	682078	9	138645716	C	T	664012	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7066	682095	9	138656644	C	T	664019	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7067	674495	9	138656717	G	T	664034	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7068	682099	9	138656783	T	C	664039	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7069	682103	9	138656838	A	G	664103	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7070	261360	9	138656862	G	A	253461	Benign	not_specified	0.02647	0.02262	0.02236	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7071	261361	9	138657053	T	G	253462	Benign	not_specified	0.23958	0.21758	0.20787	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7072	674496	9	138657109	A	G	664104	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7073	682105	9	138657171	T	C	664323	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7074	682121	9	138657635	A	G	664108	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7075	682123	9	138657687	G	A	664046	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7076	682126	9	138660237	G	A	664114	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7077	129353	9	138662273	G	A	134799	Benign	Seizures|not_specified	0.29668	0.26797	0.35543	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7078	194782	9	138662309	A	G	191945	Benign	not_specified	0.72808	0.71263	0.74421	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7079	674497	9	138662391	G	A	664137	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7080	682122	9	138662465	G	T	663576	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7081	682124	9	138662661	G	A	663581	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7082	682129	9	138663179	A	G	663607	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7083	674514	9	138664522	G	A	664154	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7084	682136	9	138664851	G	A	664362	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7085	674515	9	138664967	C	T	664109	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7086	671967	9	138666829	C	T	664161	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7087	671968	9	138666847	T	C	664112	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7088	682422	9	138666939	T	C	664163	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7089	682425	9	138666972	G	A	664365	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7090	682427	9	138667320	T	C	663610	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7091	682428	9	138667409	A	G	664169	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7092	129357	9	138669261	G	A	134803	Benign	Seizures|not_specified|not_provided	0.63494	0.6687	0.65216	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7093	365828	9	139258462	A	G	311847	Benign	Familial_Candidiasis,_Recessive	.	0.3204	0.25419	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7094	365857	9	139266405	G	A	307609	Benign	not_specified|Familial_Candidiasis,_Recessive	0.37429	0.40223	0.36621	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7095	365858	9	139266496	C	T	317914	Benign	not_specified|Familial_Candidiasis,_Recessive	0.37306	0.40195	0.36661	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7096	402489	9	139272058	A	G	389800	Benign	not_specified	0.37113	0.40881	0.36941	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7097	402490	9	139272502	T	C	389882	Benign	not_specified	0.31558	.	0.32788	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7098	365868	9	139323311	T	C	311884	Benign	Joubert_syndrome	.	.	0.36582	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7099	365873	9	139323424	T	C	317479	Benign	Joubert_syndrome	.	.	0.3776	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7100	365875	9	139323799	A	G	311894	Benign	Joubert_syndrome	.	.	0.38279	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7101	365877	9	139324029	C	T	317952	Likely_benign	Joubert_syndrome	.	.	0.14836	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7102	129272	9	139324737	C	A	134718	Benign/Likely_benign	Joubert_syndrome|not_specified|not_provided	0.21675	0.20473	0.17392	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7103	261197	9	139326253	T	C	253468	Benign	not_specified	0.24529	0.0075	0.26717	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7104	129266	9	139327034	A	G	134712	Benign	Joubert_syndrome|not_specified|not_provided	0.40721	0.40043	0.3778	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7105	675038	9	139327154	C	T	663631	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7106	129265	9	139327439	A	G	134711	Benign	Joubert_syndrome|not_specified|not_provided	0.43601	0.4194	0.3784	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7107	215526	9	139327599	G	GCGCCCACCCCTCCAGCCA	212658	Benign/Likely_benign	Joubert_syndrome|not_specified|not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7108	675037	9	139328369	T	C	664130	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7109	681966	9	139328722	G	T	663637	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7110	261203	9	139333049	GCCCT	G	253479	Benign	Joubert_syndrome|not_specified|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7111	678142	9	139400406	C	T	664218	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7112	678564	9	139400904	C	T	664219	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7113	678563	9	139401504	G	A	664417	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7114	678562	9	139401577	C	G	664220	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7115	678559	9	139402663	T	C	664419	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7116	678557	9	139402908	T	C	664425	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7117	678016	9	139402959	A	G	664432	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7118	678556	9	139403102	T	C	664160	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7119	678141	9	139403268	T	C	664437	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7120	678084	9	139403554	T	C	664167	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7121	281108	9	139405261	C	T	265345	Benign	Aortic_valve_disorder|not_specified|Cardiovasc...	0.45492	.	0.58546	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7122	678554	9	139405361	A	G	663646	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7123	678140	9	139405501	A	G	664182	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7124	677898	9	139407452	C	T	663651	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7125	678133	9	139408756	A	G	663652	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7126	678549	9	139408892	C	T	664191	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7127	383780	9	139410424	A	G	372816	Benign	not_specified	0.8733	0.87041	0.88399	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7128	678547	9	139410589	A	G	664256	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7129	678543	9	139440390	A	G	663684	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7130	365901	9	139567687	G	A	317995	Benign	Congenital_generalized_lipodystrophy	.	.	0.33407	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7131	365903	9	139567692	C	T	318011	Uncertain_significance	Congenital_generalized_lipodystrophy	.	.	0.001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7132	365904	9	139567762	G	C	307661	Benign	Congenital_generalized_lipodystrophy	.	.	0.80332	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7133	365913	9	139568047	G	A	311915	Benign	Congenital_generalized_lipodystrophy	.	.	0.80052	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7134	129574	9	139981627	A	G	135020	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.91416	0.97588	0.90535	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7135	129573	9	140001978	C	A	135019	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.27879	0.2838	0.17832	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7136	129577	9	140002989	T	C	135023	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.81916	.	0.8099	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7137	388019	9	140040364	G	A	370291	Benign/Likely_benign	not_specified|not_provided	0.00054	0.00237	0.0002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7138	683402	9	140040617	G	C	664484	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7139	129179	9	140055876	G	A	134625	Benign	not_specified|not_provided	0.94681	0.93558	0.93351	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7140	681625	9	140056070	T	C	664281	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7141	281214	9	140128085	T	C	265451	Benign	Autosomal_recessive_hypophosphatemic_bone_dise...	0.41366	0.44449	0.45567	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7142	194277	9	140130606	A	T	191440	Benign	not_specified	0.88692	0.88308	0.94609	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7143	194276	9	140130882	A	C	191439	Benign	not_specified|not_provided	0.3774	.	0.32907	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7144	65724	9	140638461	T	C	76632	Benign	Kleefstra_syndrome_1|History_of_neurodevelopme...	0.50384	0.39696	0.46885	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7145	96142	9	140652476	G	T	102036	Benign	Kleefstra_syndrome_1|not_specified	0.1597	0.06224	0.13698	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7146	802555	9	140777306	C	G	790882	Benign	NEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7147	771737	9	140917904	G	C	700932	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7148	300213	10	6052841	C	A	321772	Likely_benign	Interleukin_2_receptor,_alpha,_deficiency_of	.	.	0.0599	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7149	300224	10	6053374	A	G	322463	Benign	Interleukin_2_receptor,_alpha,_deficiency_of	.	.	0.35483	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7150	300234	10	6053866	C	T	322478	Likely_benign	Interleukin_2_receptor,_alpha,_deficiency_of	.	.	0.09026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7151	300256	10	6063508	G	A	321833	Benign	Interleukin_2_receptor,_alpha,_deficiency_of	0.03998	0.06014	0.0603	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7152	300258	10	6066195	T	A	322504	Benign	Interleukin_2_receptor,_alpha,_deficiency_of	0.29686	0.36075	0.32029	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7153	300259	10	6066200	C	G	321841	Benign	Interleukin_2_receptor,_alpha,_deficiency_of|n...	0.17538	0.21261	0.17931	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7154	301109	10	8097368	G	A	322770	Benign	Barakat_syndrome	.	.	0.49022	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7155	301133	10	8116241	G	GA	322826	Uncertain_significance	Barakat_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7156	301140	10	8116598	G	A	323466	Benign	Barakat_syndrome	.	.	0.86502	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7157	299207	10	13142251	G	A	314580	Benign	Primary_open_angle_glaucoma|Amyotrophic_Latera...	.	.	0.17312	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7158	96022	10	13151224	G	A	101916	Benign	Primary_open_angle_glaucoma|not_specified|Amyo...	0.20129	.	0.17832	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7159	197846	10	13158262	C	T	195007	Benign	Primary_open_angle_glaucoma|not_specified|Amyo...	0.81893	0.81556	0.80391	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7160	802562	10	13166076	A	G	790945	Benign	Primary_open_angle_glaucoma	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7161	368895	10	13180287	T	G	353124	Benign	Primary_open_angle_glaucoma|Amyotrophic_Latera...	.	.	0.17911	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7162	299239	10	13320111	GT	G	309744	Benign	Phytanic_acid_storage_disease	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7163	299240	10	13320236	C	T	309747	Benign	Phytanic_acid_storage_disease	0.28625	.	0.23642	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7164	95349	10	13330402	T	C	101248	Benign	Phytanic_acid_storage_disease|not_specified|no...	0.29994	0.23943	0.23902	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7165	129891	10	13337588	G	A	135337	Benign	Phytanic_acid_storage_disease|not_specified|no...	0.96593	0.99078	0.97244	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7166	7582	10	13340236	G	A	22621	Benign/Likely_benign	Phytanic_acid_storage_disease|not_specified|no...	.	0.15038	0.09764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7167	299305	10	14950164	CTT	C	309805	Uncertain_significance	Histiocytic_medullary_reticulosis	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7168	35999	10	14976727	G	C	44663	Benign/Likely_benign	Severe_combined_immunodeficiency_disease|Sever...	0.09119	0.09054	0.11681	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7169	299373	10	16882518	T	C	321422	Benign	Megaloblastic_anemia|not_provided	0.71482	0.71697	0.63598	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7170	299388	10	16918997	T	C	321438	Likely_benign	Megaloblastic_anemia	0.13847	0.10753	0.11701	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7171	299389	10	16919052	T	C	320825	Benign/Likely_benign	Megaloblastic_anemia|Megaloblastic_anemia_due_...	0.07973	0.09112	0.0629	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7172	439578	10	16930279	A	T	433470	Benign	Megaloblastic_anemia_due_to_inborn_errors_of_m...	.	.	0.77137	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7173	299409	10	16943371	G	C	321443	Benign	Megaloblastic_anemia|not_provided	0.99992	0.99998	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7174	299437	10	16967401	C	T	309899	Benign	Megaloblastic_anemia|not_provided	0.99962	0.99581	0.99341	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7175	299438	10	16967586	C	G	309900	Likely_benign	Megaloblastic_anemia	0.12471	0.13069	0.13459	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7176	299444	10	16975078	G	A	314859	Benign	Megaloblastic_anemia	0.17138	0.20648	0.19689	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7177	299453	10	16979661	T	C	320918	Benign	Megaloblastic_anemia|not_specified	0.51084	0.46253	0.54133	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7178	299462	10	16982244	G	T	309928	Benign	Megaloblastic_anemia	0.17008	0.2003	0.23043	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7179	299479	10	17024503	G	A	309938	Benign	Megaloblastic_anemia|not_provided	0.74873	0.77289	0.61342	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7180	299480	10	17024615	A	T	314919	Benign	Megaloblastic_anemia|not_provided	0.74881	0.77321	0.61382	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7181	439576	10	17110474	C	T	433468	Benign	Megaloblastic_anemia_due_to_inborn_errors_of_m...	.	.	0.91454	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7182	299498	10	17110595	G	A	320977	Benign	Megaloblastic_anemia	0.8483	0.85679	0.91114	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7183	299499	10	17110598	T	G	320980	Benign/Likely_benign	Megaloblastic_anemia|Megaloblastic_anemia_due_...	0.01715	0.02491	0.02995	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7184	299527	10	17147521	G	T	321564	Benign	Megaloblastic_anemia	0.58757	.	0.53434	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7185	299533	10	17152994	G	A	309965	Benign	Megaloblastic_anemia|not_provided	0.19706	0.21005	0.21486	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7186	299538	10	17156151	A	G	321032	Benign	Megaloblastic_anemia|Megaloblastic_anemia_due_...	0.69845	0.72783	0.79932	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7187	768350	10	17659131	C	A	701276	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7188	674367	10	18429407	C	A	664690	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7189	368897	10	18629603	G	A	353126	Likely_benign	Brugada_syndrome	.	.	0.42812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7190	671828	10	18690668	A	G	664956	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7191	263262	10	18789724	T	G	253715	Benign	Brugada_syndrome_4|not_specified	0.32562	.	0.22983	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7192	673267	10	18790142	G	T	664093	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7193	671830	10	18807057	G	A	664098	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7194	683287	10	18826813	T	C	664673	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7195	683298	10	18827828	C	T	664710	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7196	683299	10	18827886	A	C	664712	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7197	136649	10	18828635	T	G	140352	Benign/Likely_benign	Brugada_syndrome|not_specified|Cardiovascular_...	0.15159	.	0.09704	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7198	215549	10	18828663	G	T	212763	Benign/Likely_benign	Brugada_syndrome|Brugada_syndrome_4|not_specified	.	0.78814	0.77436	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7199	299576	10	18828721	C	CAA	321622	Likely_benign	Brugada_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7200	299584	10	18829113	G	GCTGA	321638	Likely_benign	Brugada_syndrome	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7201	299611	10	18829981	A	ATGTT	310034	Likely_benign	Brugada_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7202	299616	10	18830318	T	C	321665	Likely_benign	Brugada_syndrome	.	.	0.0597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7203	299618	10	18830618	C	T	321097	Likely_benign	Brugada_syndrome	.	.	0.40555	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7204	299620	10	18830669	T	C	321105	Likely_benign	Brugada_syndrome	.	.	0.76018	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7205	769362	10	19425531	A	G	701281	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7206	678109	10	21075084	G	C	664682	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7207	671440	10	21076100	C	A	664714	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7208	683677	10	21097159	A	T	664122	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7209	672914	10	21097769	A	G	664689	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7210	683676	10	21101423	T	C	664693	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7211	683673	10	21103274	C	A	664993	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7212	671174	10	21104694	A	T	664700	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7213	672883	10	21108247	C	T	664995	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7214	671324	10	21108706	T	C	664718	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7215	673849	10	21111924	A	G	665002	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7216	671172	10	21115332	T	C	665003	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7217	45484	10	21120116	A	G	54650	Benign	not_specified	0.43019	0.38931	0.46905	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7218	671323	10	21129588	T	C	665022	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7219	45475	10	21134282	C	G	54641	Benign	not_specified|Cardiovascular_phenotype	0.06098	.	0.03854	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7220	45472	10	21139389	T	C	54638	Benign	not_specified|Cardiovascular_phenotype	0.06113	0.06504	0.03874	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7221	45471	10	21141469	T	C	54637	Benign	not_specified|Cardiovascular_phenotype	0.99277	.	0.95248	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7222	683662	10	21141852	C	G	664726	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7223	678539	10	21147520	T	C	664732	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7224	669638	10	21147611	A	C	664737	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7225	683671	10	21149015	C	G	665031	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7226	672881	10	21157492	T	C	664151	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7227	671153	10	21176945	G	A	665050	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7228	45495	10	21177143	G	GA	54661	Benign	Primary_dilated_cardiomyopathy|Cardiomyopathy|...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7229	678610	10	21178530	A	G	665054	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7230	672880	10	21178574	G	A	664156	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7231	683660	10	21179160	A	T	664747	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7232	672879	10	21185821	A	C	664159	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7233	683670	10	21186738	G	A	665064	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7234	683669	10	21186862	G	A	664752	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7235	674346	10	21461232	G	A	665068	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7236	164775	10	21461410	G	GA	174922	not_provided	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7237	444138	10	23466734	G	A	437762	Benign	Diabetes_mellitus_type_2	.	.	0.45028	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7238	444143	10	23478779	T	G	437764	Benign	Diabetes_mellitus_type_2	.	.	0.21146	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7239	130055	10	23482635	T	C	135501	Benign	Permanent_neonatal_diabetes_mellitus|not_speci...	0.51076	.	0.6244	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7240	299628	10	23482850	G	A	321688	Benign	Permanent_neonatal_diabetes_mellitus	0.05859	0.12766	0.21286	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7241	444145	10	23544272	T	C	437766	Benign	Diabetes_mellitus_type_2	.	.	0.69469	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7242	444144	10	23572382	A	C	437768	Benign	Diabetes_mellitus_type_2	.	.	0.71825	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7243	444141	10	23579424	G	A	437769	Benign	Diabetes_mellitus_type_2	.	.	0.1875	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7244	682722	10	26240944	C	T	664166	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7245	45791	10	26241025	T	A	54956	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.094	0.05697	0.07408	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7246	164604	10	26286066	TTA	T	174648	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7247	45817	10	26286159	G	T	54982	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.10963	.	0.09145	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7248	45823	10	26355906	G	A	54988	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.48839	0.48497	0.39357	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7249	45792	10	26355992	A	G	54957	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.68253	0.67859	0.66274	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7250	260810	10	26357747	CG	CA,TA	253719	Benign	not_specified	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7251	45798	10	26357820	C	T	54963	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.48801	0.48439	0.39637	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7252	45801	10	26385578	G	A	54966	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.10585	0.08835	0.05731	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7253	45804	10	26446312	G	A	54969	Benign/Likely_benign	Deafness,_autosomal_recessive_30|not_specified...	0.52107	0.5064	0.45527	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7254	45807	10	26457637	T	C	54972	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.13625	0.09708	0.08766	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7255	45811	10	26463130	C	A	54976	Benign/Likely_benign	Deafness,_autosomal_recessive_30|not_specified...	0.56274	0.59868	0.60104	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7256	260811	10	26465792	T	C	253720	Benign	not_specified	0.10595	0.08745	0.05751	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7257	669538	10	26986932	T	C	664761	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7258	669539	10	26987060	G	C	665072	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7259	671582	10	26990849	T	G	664177	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7260	683440	10	26993390	T	A	665074	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7261	671583	10	26993955	C	A	664184	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7262	671584	10	26993961	G	A	665086	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7263	683442	10	26994650	A	G	664770	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7264	671585	10	26998358	C	T	664187	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7265	683449	10	27024710	G	A	664203	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7266	683450	10	27031214	A	G	665099	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7267	299704	10	27035478	C	T	315186	Likely_benign	Coenzyme_Q10_deficiency,_primary	.	.	0.08986	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7268	260461	10	27326999	T	C	253730	Benign	not_specified	0.82887	0.84081	0.86522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7269	260472	10	27389197	T	C	253739	Benign/Likely_benign	Thrombocytopenia|not_specified	0.89346	0.89774	0.94469	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7270	299785	10	27444303	G	A	315284	Likely_benign	Thrombocytopenia	.	.	0.39717	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7271	262111	10	27444344	T	G	253744	Benign/Likely_benign	Thrombocytopenia|not_specified	0.84066	.	0.85523	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7272	262126	10	27454111	A	T	253749	Benign/Likely_benign	Thrombocytopenia|not_specified	0.61748	0.5924	0.50479	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7273	262127	10	27456003	G	A	253750	Benign	not_specified	0.99316	0.99791	0.99101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7274	262115	10	27459670	C	T	253752	Benign/Likely_benign	Thrombocytopenia|not_specified	0.61625	0.59108	0.50459	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7275	262122	10	27475444	T	C	253758	Benign/Likely_benign	Thrombocytopenia|not_specified	0.62548	0.5971	0.51098	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7276	262110	10	27475494	T	C	253759	Benign/Likely_benign	Thrombocytopenia|not_specified	0.50092	0.55878	0.39996	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7277	299806	10	27475693	T	C	310197	Likely_benign	Thrombocytopenia	.	.	0.50958	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7278	668606	10	27815665	A	G	665104	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7279	684031	10	27826517	C	T	664789	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7280	299879	10	27830783	G	GT	315390	Benign	Warburg_micro_syndrome	.	0.76505	0.73622	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7281	260994	10	28228865	A	G	253760	Benign	not_specified	0.50807	0.53635	0.53315	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7282	718255	10	28971169	G	A	723906	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7283	671782	10	30605410	G	A	664228	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7284	684083	10	30611774	T	G	664771	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7285	683223	10	30615190	C	T	664796	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7286	138281	10	30629136	G	A	141984	Benign	Ataxia,_spastic,_4,_autosomal_recessive|not_sp...	0.26918	0.26018	0.22564	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7287	129624	10	30629226	G	A	135070	Benign	Ataxia,_spastic,_4,_autosomal_recessive|not_sp...	0.26226	0.24999	0.21845	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7288	683222	10	30629549	G	T	664243	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7289	684266	10	30638597	C	A	664245	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7290	771884	10	43315692	C	T	701339	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7291	368898	10	43572507	A	G	353127	Benign	Pheochromocytoma|Multiple_endocrine_neoplasia|...	.	.	0.73682	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7292	378478	10	43581980	C	T	371670	Benign	not_specified	.	.	0.74521	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7293	13952	10	43582056	T	C	28991	Benign,_risk_factor	Hirschsprung_disease|Hirschsprung_disease_1|no...	.	.	0.75739	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7294	695195	10	43582273	A	C	685271	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7295	677050	10	43595781	G	T	664781	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7296	167589	10	43595968	A	G	174942	Benign	not_specified|not_provided	.	0.73653	0.75359	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7297	677051	10	43600864	A	T	664254	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7298	95995	10	43606687	A	G	101890	Benign	Pheochromocytoma|Multiple_endocrine_neoplasia|...	0.74858	0.70607	0.77516	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7299	677053	10	43611865	T	C	665137	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7300	261396	10	43612226	C	T	253767	Benign	not_specified	0.20369	0.21445	0.12061	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7301	167590	10	43613843	G	T	175112	Benign	not_specified|not_provided	0.80263	0.74191	0.71246	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7302	165056	10	43622217	T	C	174666	Benign	not_specified	0.85333	0.8031	0.75499	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7303	299934	10	43625223	G	A	315412	Benign	Pheochromocytoma|Multiple_endocrine_neoplasia|...	.	.	0.7472	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7304	768356	10	47087078	G	T	701353	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7305	768357	10	47087474	C	T	701352	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7306	768359	10	47087501	C	T	701350	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7307	768360	10	47087680	C	T	701349	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7308	768361	10	47087731	C	T	701348	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7309	768362	10	47087830	G	A	701347	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7310	674697	10	48414570	A	G	664801	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7311	300029	10	50666628	C	CA	322302	Uncertain_significance	Macular_degeneration|Cockayne_syndrome|Cerebro...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7312	129020	10	50667105	T	C	134466	Benign	Macular_degeneration|Cockayne_syndrome|not_spe...	0.18914	0.21784	0.17891	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7313	129017	10	50678369	T	C	134463	Benign	Macular_degeneration|Cockayne_syndrome|not_spe...	0.19668	0.22033	0.1847	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7314	129016	10	50678717	T	C	134462	Benign	Macular_degeneration|Cockayne_syndrome|not_spe...	0.19091	0.21856	0.18251	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7315	255163	10	50691360	T	C	253773	Benign	not_specified	0.8493	0.90711	0.88758	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7316	190153	10	50701156	G	A	188007	Benign	Macular_degeneration|Cockayne_syndrome|not_spe...	0.83223	.	0.877	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7317	788361	10	50724408	G	A	712389	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7318	129014	10	50740876	G	C	134460	Benign	Macular_degeneration|Cockayne_syndrome|not_spe...	0.62756	0.69464	0.59086	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7319	802572	10	50820345	C	A	790963	Benign	Familial_infantile_myasthenia	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7320	261325	10	50822192	G	C	253774	Benign	not_specified	.	0.74457	0.4409	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7321	193433	10	50822226	T	G	190597	Benign	not_specified|not_provided	.	0.99218	0.97185	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7322	261337	10	50828506	G	A	253779	Benign/Likely_benign	not_specified|not_provided	0.97194	0.98609	0.96625	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7323	668072	10	50829828	A	G	664295	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7324	678934	10	50835967	C	A	664296	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7325	199157	10	50856652	G	A	196316	Benign	Familial_infantile_myasthenia|not_specified	0.96102	0.98962	0.96645	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7326	678351	10	50857849	C	T	665158	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7327	678352	10	50857890	T	C	664303	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7328	668073	10	50859629	T	G	664848	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7329	681297	10	50860229	C	G	665163	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7330	668074	10	50860383	T	C	664855	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7331	128719	10	50863147	T	C	134168	Benign	not_specified|not_provided	0.83984	.	0.79353	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7332	678355	10	50863565	C	T	664304	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7333	679123	10	50863623	A	G	664859	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7334	680099	10	50870500	G	A	664865	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7335	220801	10	52913020	G	A	221980	Benign	Aortic_aneurysm,_familial_thoracic_8|not_speci...	0.01661	0.01681	0.00859	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7336	674711	10	53667443	C	T	664809	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7337	674712	10	53667476	G	A	664811	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7338	683715	10	53667586	C	A	664314	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7339	683717	10	53813948	A	G	664335	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7340	683720	10	53813953	A	C	664339	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7341	381195	10	53814229	G	T	371297	Benign	not_specified	0.31532	0.34825	0.26917	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7342	674738	10	53814383	C	T	664341	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7343	683740	10	53893305	C	A	664882	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7344	678086	10	53893888	G	A	664356	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7345	677989	10	54011665	A	G	664367	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7346	674715	10	54031443	T	C	664840	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7347	683723	10	54048234	G	A	664849	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7348	674728	10	54050079	G	A	664852	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7349	300109	10	54525509	A	C	321599	Likely_benign	Mannose-binding_protein_deficiency	.	.	0.33886	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7350	300110	10	54525678	T	G	321600	Likely_benign	Mannose-binding_protein_deficiency	.	.	0.33906	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7351	300113	10	54525849	T	C	315587	Likely_benign	Mannose-binding_protein_deficiency	.	.	0.33866	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7352	300114	10	54525857	C	A	321603	Likely_benign	Mannose-binding_protein_deficiency	.	.	0.27316	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7353	300124	10	54526206	C	T	322359	Likely_benign	Mannose-binding_protein_deficiency	.	.	0.45188	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7354	300131	10	54526622	A	G	322365	Likely_benign	Mannose-binding_protein_deficiency	.	.	0.27696	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7355	300148	10	54528266	G	C	315631	Benign/Likely_benign	Mannose-binding_protein_deficiency|not_specified	0.77061	0.80414	0.73882	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7356	368900	10	54531461	G	A	353129	Likely_benign	Mannose-binding_protein_deficiency	.	.	0.28335	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7357	227837	10	55566671	G	A	229796	Conflicting_interpretations_of_pathogenicity	not_specified|not_provided	0.00146	0.0007	0.0006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7358	44035	10	55568972	T	G	53203	Benign	not_specified	0.14864	0.24887	0.29812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7359	670409	10	55587034	A	G	664381	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7360	678866	10	55588137	G	A	665210	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7361	670408	10	55588484	G	T	664861	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7362	670392	10	55588495	A	G	664897	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7363	678867	10	55590850	G	A	664864	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7364	46476	10	55591313	G	A	55641	Benign	not_specified	0.35266	0.43309	0.4403	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7365	678862	10	55617177	T	C	664904	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7366	46468	10	55626630	G	GA	55633	Benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7367	678863	10	55626750	G	A	664916	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7368	674390	10	55663198	A	C	664867	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7369	674389	10	55663202	T	C	664869	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7370	678861	10	55700973	T	C	664920	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7371	678860	10	55700979	T	G	664872	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7372	667956	10	55701068	T	C	664925	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7373	262149	10	55719652	C	T	253789	Benign	not_specified|not_provided	0.67907	0.73626	0.73403	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7374	678859	10	55721761	A	G	664874	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7375	678857	10	55721844	G	GT	664876	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7376	678856	10	55755237	C	T	664926	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7377	46456	10	55755491	C	T	55621	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.21113	0.25623	0.3153	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7378	678855	10	55779760	C	A	664397	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7379	262147	10	55779915	G	A	253791	Benign	not_specified|not_provided	0.59942	0.63673	0.46026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7380	678854	10	55783146	A	T	664895	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7381	678853	10	55838950	A	G	665213	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7382	678849	10	55942965	A	G	664944	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7383	262145	10	55943184	T	C	253792	Benign	not_specified|not_provided	0.78533	.	0.60803	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7384	670389	10	55973589	C	T	665224	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7385	670388	10	55973889	G	A	664906	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7386	667953	10	55974067	T	A	664917	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7387	678842	10	55996408	A	T	664922	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7388	670387	10	55996761	C	T	665225	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7389	675473	10	55996785	G	A	664945	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7390	673903	10	56076760	T	C	664924	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7391	46511	10	56077209	G	A	55676	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.7402	0.66044	0.60383	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7392	667936	10	56089068	G	C	664931	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7393	678845	10	56089131	A	G	664935	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7394	678844	10	56089166	C	T	664954	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7395	678843	10	56089223	A	G	664937	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7396	667935	10	56089718	C	T	664958	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7397	667934	10	56129286	C	A	665228	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7398	684177	10	60145079	A	G	656003	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7399	684179	10	60145597	G	C	664961	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7400	684187	10	60147784	G	A	664966	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7401	684189	10	60148692	A	G	664420	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7402	773235	10	60573675	G	A	701383	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7403	802577	10	61956386	G	GA	790968	Benign	Mental_retardation,_autosomal_recessive_37	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7404	128362	10	61965625	A	G	133811	Likely_benign	not_specified	0.18176	0.15961	0.15156	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7405	285766	10	64573771	C	T	270003	Benign	not_specified|not_provided	0.98216	0.99529	0.98602	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7406	680031	10	64575410	G	T	664947	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7407	670506	10	64576317	G	C	664430	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7408	460222	10	65225244	GA	CG	460152	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7409	240864	10	68139039	G	A	240825	Benign	Arrhythmogenic_right_ventricular_dysplasia,_fa...	0.01153	0.01183	0.00499	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7410	516742	10	69366602	T	C	502840	Benign	not_specified	0.45617	0.38108	0.52995	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7411	673049	10	69902549	T	C	664442	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7412	683653	10	69909513	C	T	664998	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7413	678619	10	69909562	C	T	664977	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7414	683654	10	69917921	C	T	665257	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7415	683655	10	69917925	T	C	664986	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7416	671143	10	69918602	A	G	664988	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7417	678537	10	69921733	T	A	664456	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7418	672832	10	69925789	C	T	665259	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7419	31795	10	69926097	T	C	40455	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.57866	0.62267	0.48263	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7420	31803	10	69926319	C	A	40463	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.1261	0.15649	0.11661	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7421	31796	10	69926325	C	T	40456	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.17231	0.18091	0.15775	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7422	683656	10	69926687	G	A	665007	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7423	138419	10	69935235	T	C	142122	Benign	Dilated_cardiomyopathy_1KK|not_specified	0.98216	0.99385	0.98243	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7424	669866	10	69948326	T	C	665028	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7425	31799	10	69948844	T	C	40459	Benign	not_specified|not_provided	0.98547	0.99558	0.98463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7426	673051	10	69949057	T	G	665035	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7427	672838	10	69953929	A	G	665042	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7428	672839	10	69953942	G	A	665270	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7429	671506	10	69954301	C	T	665278	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7430	672869	10	69954451	A	G	664468	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7431	671147	10	69955140	T	A	664470	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7432	668993	10	69956848	T	C	665288	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7433	671150	10	69957375	C	T	664481	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7434	668995	10	69957554	C	T	665046	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7435	672871	10	69958975	G	T	665047	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7436	671151	10	69959097	G	T	665052	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7437	678015	10	69959567	C	A	664490	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7438	668996	10	69959624	A	G	665049	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7439	683658	10	69961270	C	T	665067	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7440	672875	10	69961405	A	G	665306	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7441	672876	10	69961408	C	T	665070	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7442	672877	10	69961470	A	G	664500	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7443	671152	10	69961501	A	G	665056	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7444	669011	10	69962062	T	C	665059	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7445	669884	10	69966251	G	A	665310	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7446	672878	10	69966392	T	G	665315	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7447	669725	10	70190695	T	G	665088	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7448	257342	10	70191631	C	T	253799	Benign	not_specified|not_provided	0.03844	0.0424	0.02117	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7449	669723	10	70196580	T	C	665323	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7450	669720	10	70197186	T	A	665093	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7451	669719	10	70204373	T	C	665100	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7452	669716	10	70205152	G	A	665089	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7453	683742	10	70206390	T	C	665094	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7454	669713	10	70209582	ATCGCTTGAACCCGAGAG	A	665103	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7455	257346	10	70225504	G	T	253801	Benign	not_specified|not_provided	0.27582	0.28675	0.36641	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7456	257345	10	70227964	C	T	253802	Benign	not_specified|not_provided	0.07007	0.13114	0.13918	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7457	669881	10	70228249	T	C	665108	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7458	669863	10	70231333	C	G	664520	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7459	676250	10	70231412	G	A	665107	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7460	1719	10	70641860	T	C	16758	risk_factor	Preeclampsia/eclampsia_4	.	0.62314	0.61242	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7461	1720	10	70645376	A	C	16759	Conflicting_interpretations_of_pathogenicity	Preeclampsia/eclampsia_4	.	0.21221	0.14417	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7462	682816	10	70765250	G	A	665132	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7463	671932	10	70775001	T	C	664521	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7464	682818	10	70775081	T	C	665114	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7465	439787	10	71103597	C	G	433604	Benign	not_specified	0.37621	0.32376	0.28335	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7466	255483	10	71142420	G	A	253803	Benign	not_specified	0.82008	0.78316	0.77875	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7467	129765	10	71332204	A	G	135211	Benign	not_specified	0.58775	0.58598	0.42991	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7468	95882	10	72195439	T	C	101779	Benign	Holoprosencephaly_sequence|Heterotaxia|Viscera...	0.5386	0.61715	0.66574	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7469	300324	10	72357713	C	T	315856	Benign	Familial_hemophagocytic_lymphohistiocytosis	.	.	0.57788	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7470	300325	10	72357720	G	A	310615	Likely_benign	Familial_hemophagocytic_lymphohistiocytosis	.	.	0.09744	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7471	257409	10	72358577	G	A	253807	Benign	Familial_hemophagocytic_lymphohistiocytosis|He...	0.66239	0.63565	0.69589	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7472	257408	10	72358655	G	A	253808	Benign/Likely_benign	Familial_hemophagocytic_lymphohistiocytosis|no...	0.14785	0.15821	0.11262	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7473	691402	10	72536936	A	G	679096	Uncertain_significance	Hirschsprung_disease	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7474	300345	10	72643671	C	T	322610	Benign	BH4-Deficient_Hyperphenylalaninemia	0.72831	0.77682	0.76538	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7475	300350	10	72648336	C	T	322615	Likely_benign	BH4-Deficient_Hyperphenylalaninemia	.	1	0.124	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7476	300354	10	72648422	G	T	322628	Benign	BH4-Deficient_Hyperphenylalaninemia	.	.	0.38099	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7477	130342	10	73082563	A	G	135789	Benign	Histiocytosis-lymphadenopathy_plus_syndrome|no...	0.48739	0.42466	0.46925	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7478	130340	10	73104056	A	G	135787	Benign	Histiocytosis-lymphadenopathy_plus_syndrome|no...	0.87944	0.86738	0.8143	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7479	130341	10	73111408	C	T	135788	Benign,_drug_response	Histiocytosis-lymphadenopathy_plus_syndrome|no...	0.61825	0.63843	0.47983	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7480	300363	10	73115941	TG	CA	321945	Conflicting_interpretations_of_pathogenicity	Histiocytosis-lymphadenopathy_plus_syndrome|no...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7481	130347	10	73121913	A	G	135794	Benign	Histiocytosis-lymphadenopathy_plus_syndrome|no...	0.89228	0.82462	0.79273	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7482	130337	10	73121945	T	C	135784	Benign	Histiocytosis-lymphadenopathy_plus_syndrome|no...	0.8666	0.83018	0.75379	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7483	300394	10	73157033	C	CCGAGG	322651	Conflicting_interpretations_of_pathogenicity	Retinitis_pigmentosa-deafness_syndrome|not_spe...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7484	680498	10	73199333	A	G	665120	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7485	670320	10	73199501	C	A	664523	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7486	678763	10	73206287	C	T	665125	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7487	678765	10	73269714	T	C	665126	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7488	45928	10	73270906	T	C	55093	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.7496	0.67207	0.73463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7489	45940	10	73270982	G	A	55105	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.73965	0.6691	0.72524	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7490	261548	10	73270995	A	G	253816	Benign	not_specified|not_provided	0.74355	.	0.73123	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7491	680499	10	73337417	T	C	665128	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7492	670322	10	73377314	C	G	665343	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7493	45872	10	73434888	G	C	55037	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.12119	0.1998	0.1853	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7494	680500	10	73436872	T	A	664529	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7495	678767	10	73437020	A	G	665130	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7496	678768	10	73437560	T	C	665143	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7497	261543	10	73439101	T	C	253817	Benign	not_specified|not_provided	0.92842	0.9624	0.91514	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7498	678782	10	73447555	C	T	665371	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7499	678769	10	73454151	C	T	665145	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7500	678770	10	73454256	T	C	665150	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7501	760950	10	73454444	A	C	775660	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7502	760964	10	73454483	A	G	775543	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7503	678771	10	73454935	C	G	665140	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7504	678772	10	73465033	C	T	665141	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7505	45937	10	73492079	A	G	55102	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.8129	0.81593	0.78215	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7506	670326	10	73494159	T	A	665149	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7507	678773	10	73494229	T	C	665156	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7508	670327	10	73498644	A	G	665376	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7509	680505	10	73499068	T	C	664534	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7510	680506	10	73499827	G	A	665167	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7511	678783	10	73500861	C	T	665151	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7512	678784	10	73501374	C	T	664538	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7513	45955	10	73501556	G	A	55120	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.74108	0.77525	0.72883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7514	802586	10	73520632	A	C	790978	Benign	Retinitis_pigmentosa-deafness_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7515	802587	10	73533177	A	G	790979	Benign	Retinitis_pigmentosa-deafness_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7516	45960	10	73537614	G	A	55125	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.14097	0.17889	0.13219	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7517	680507	10	73548388	G	A	665195	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7518	45997	10	73550117	C	G	55162	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.41443	0.42914	0.34525	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7519	46058	10	73569749	C	T	55223	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.116	0.11414	0.08087	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7520	46071	10	73571521	G	A	55236	Benign/Likely_benign	Galactosylceramide_beta-galactosidase_deficien...	0.11088	0.15087	0.07887	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7521	300489	10	73575384	A	G	316044	Benign/Likely_benign	Galactosylceramide_beta-galactosidase_deficien...	.	.	0.78934	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7522	680724	10	73583520	G	C	665157	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7523	680723	10	73583948	TG	T	665390	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7524	680721	10	73591149	T	C	665400	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7525	680720	10	73593913	A	G	665160	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7526	680719	10	73594499	G	A	665405	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7527	300548	10	73724266	C	G	322169	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.5613	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7528	300581	10	73768992	C	A	310830	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.60963	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7529	300605	10	73769543	G	A	322808	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.20208	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7530	300620	10	73770073	C	T	322831	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.57648	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7531	300622	10	73770128	G	A	322239	Likely_benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.08826	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7532	300630	10	73770578	A	G	310887	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.57548	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7533	300632	10	73770651	T	C	310890	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.59165	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7534	300641	10	73771282	C	T	322245	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.24062	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7535	300660	10	73772161	G	T	322890	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.61002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7536	300661	10	73772216	G	A	316200	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.24022	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7537	300670	10	73772650	G	C	322267	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.24022	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7538	300671	10	73772661	T	A	322892	Benign	Skeletal_dysplasia|Spondyloepiphyseal_dysplasi...	.	.	0.59165	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7539	667500	10	74168136	A	G	665202	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7540	667499	10	74235232	T	G	665416	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7541	559182	10	74268031	T	C	549971	Benign	not_provided	0.51904	0.57981	0.29792	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7542	667496	10	74284025	C	T	665220	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7543	667495	10	74310651	G	A	665221	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7544	300752	10	75673731	C	T	322380	Benign	Quebec_platelet_disorder	0.53967	0.45647	0.36102	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7545	300765	10	75676464	C	T	322983	Benign	Quebec_platelet_disorder	.	.	0.37161	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7546	300776	10	75677166	TG	T	316340	Benign	Quebec_platelet_disorder	.	.	0.36661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7547	684057	10	75757580	A	G	664574	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7548	671287	10	75842152	G	A	664587	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7549	669418	10	75842799	A	AT	665185	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7550	498457	10	75843100	T	A	489881	Benign	not_specified|not_provided	0.63655	.	0.78075	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7551	678044	10	75853796	C	T	664592	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7552	678031	10	75855842	C	T	664605	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7553	671231	10	75863750	C	T	665436	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7554	45595	10	75865065	G	A	54761	Benign/Likely_benign	Hirschsprung_disease|not_specified|Cardiovascu...	0.43872	0.47612	0.32468	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7555	672696	10	75866929	C	A	664611	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7556	672697	10	75869065	T	C	665218	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7557	45600	10	75871735	C	G	54766	Benign/Likely_benign	Dilated_cardiomyopathy_1W|not_specified|Cardio...	0.76242	0.67339	0.623	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7558	672698	10	75873892	C	T	665241	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7559	300808	10	75878915	C	CTA	316355	Likely_benign	Dilated_Cardiomyopathy,_Dominant	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7560	300815	10	75879511	T	A	323069	Likely_benign	Dilated_Cardiomyopathy,_Dominant	.	.	0.6254	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7561	300835	10	75936611	C	T	311044	Benign	Hypermethioninemia	0.7736	0.68122	0.63019	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7562	802588	10	76349020	CT	C	790980	Benign	Hypermethioninemia_due_to_adenosine_kinase_def...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7563	300847	10	76468851	C	T	316390	Benign	Hypermethioninemia	.	.	0.85004	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7564	561579	10	76603482	C	T	552622	Benign	not_provided	.	.	0.44649	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7565	561577	10	76719679	C	A	552623	Benign	not_provided	0.34932	0.27422	0.47384	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7566	561580	10	76720040	T	C	552624	Benign	not_provided	.	.	0.1272	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7567	561581	10	76720081	C	T	552625	Benign	not_provided	.	.	0.1885	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7568	561578	10	76729632	C	T	552626	Benign	not_provided	.	.	0.47404	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7569	300927	10	78645067	G	A	322540	Likely_benign	Generalized_epilepsy_and_paroxysmal_dyskinesia	.	.	0.71466	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7570	300933	10	78645453	G	A	316458	Likely_benign	Generalized_epilepsy_and_paroxysmal_dyskinesia	.	.	0.38059	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7571	129328	10	78944590	G	A	134774	Benign/Likely_benign	Generalized_epilepsy_and_paroxysmal_dyskinesia...	0.44933	0.36048	0.40595	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7572	786826	10	79588706	G	A	712480	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7573	227069	10	81317292	G	A	229922	Benign/Likely_benign	not_specified|not_provided	.	0.28665	0.34884	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7574	165197	10	81372081	A	G	175023	Benign	not_specified	0.16172	0.20002	0.22085	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7575	165215	10	81701722	T	C	175027	Benign	not_specified	0.71605	0.6635	0.77037	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7576	165218	10	81706281	A	G	175307	Benign	not_specified	0.05059	0.04539	0.02436	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7577	165219	10	81706324	A	G	175029	Benign	not_specified	0.41358	0.47004	0.50459	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7578	301153	10	82031937	C	CCCAGCCTGAA	322697	Benign	Hepatic_methionine_adenosyltransferase_deficiency	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7579	301159	10	82032445	G	C	316692	Likely_benign	Hepatic_methionine_adenosyltransferase_deficiency	.	.	0.02895	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7580	301165	10	82032555	T	A	316710	Benign	Hepatic_methionine_adenosyltransferase_deficiency	.	.	0.12001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7581	256104	10	82033594	G	A	253866	Benign	Hepatic_methionine_adenosyltransferase_deficie...	0.53791	0.51236	0.58686	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7582	256103	10	82034262	G	A	253867	Benign	Hepatic_methionine_adenosyltransferase_deficie...	0.53798	0.51253	0.58806	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7583	256107	10	82034842	A	G	253869	Benign	Hepatic_methionine_adenosyltransferase_deficie...	0.70703	0.74412	0.84046	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7584	256106	10	82034854	T	C	253870	Benign	Hepatic_methionine_adenosyltransferase_deficie...	0.70934	0.75044	0.84086	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7585	256105	10	82040052	A	G	253871	Benign	Hepatic_methionine_adenosyltransferase_deficie...	0.74842	0.7543	0.86342	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7586	256108	10	82045354	G	C	253872	Benign	Hepatic_methionine_adenosyltransferase_deficie...	0.24727	0.1467	0.1909	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7587	301199	10	82049251	T	TTTTTTC,TTTCTTC	311293	Benign	Hepatic_methionine_adenosyltransferase_deficiency	.	.	.	1|2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7588	691406	10	83637775	C	G	679097	Uncertain_significance	Hirschsprung_disease	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7589	691408	10	84745256	C	T	679099	Uncertain_significance	Hirschsprung_disease	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7590	262215	10	85960395	A	G	253878	Benign	not_specified|Cone-Rod_Dystrophy,_Recessive|no...	0.52491	0.49472	0.51597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7591	262210	10	85972043	A	G	253884	Benign	not_specified|Cone-Rod_Dystrophy,_Recessive|no...	0.41835	0.35573	0.42911	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7592	194794	10	85974236	T	C	191957	Benign	not_specified|Cone-Rod_Dystrophy,_Recessive|no...	0.60488	.	0.57368	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7593	194795	10	85974381	A	G	191958	Benign	not_specified|Cone-Rod_Dystrophy,_Recessive	0.68053	0.58671	0.6274	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7594	301278	10	85975246	T	G	316942	Benign	Cone-Rod_Dystrophy,_Recessive	.	.	0.57169	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7595	301281	10	85975284	G	A	316962	Likely_benign	Cone-Rod_Dystrophy,_Recessive	.	.	0.09804	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7596	301312	10	85976965	A	C	311434	Benign	Cone-Rod_Dystrophy,_Recessive	.	.	0.55651	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7597	301314	10	85977020	A	T	323570	Benign	Cone-Rod_Dystrophy,_Recessive	.	.	0.25659	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7598	285754	10	86004873	T	C	269991	Benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.62056	0.53118	0.63359	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7599	197174	10	86012713	C	T	194335	Benign	not_specified|Retinitis_Pigmentosa,_Recessive	0.50515	.	0.50319	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7600	301324	10	86018493	C	CA	323008	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.11601	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7601	301327	10	86018811	A	G	317026	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.11621	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7602	683005	10	88428076	A	T	664616	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7603	671123	10	88428158	T	C	664626	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7604	138106	10	88428335	T	C	141809	Benign/Likely_benign	Left_ventricular_noncompaction_cardiomyopathy|...	.	.	0.7522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7605	672518	10	88439005	G	A	665227	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7606	672014	10	88440996	C	G	665235	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7607	257337	10	88445385	G	C	253888	Benign	not_specified|not_provided	0.71022	0.68751	0.6242	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7608	683610	10	88445741	C	T	664648	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7609	672033	10	88446633	A	T	665240	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7610	43881	10	88458996	TTC	T	53050	Likely_benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7611	301347	10	88516595	T	C	323644	Benign	Juvenile_Polyposis	.	.	0.34824	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7612	41782	10	88635779	C	A	50221	Benign	Hereditary_cancer-predisposing_syndrome|not_sp...	0.38951	0.35582	0.4998	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7613	259286	10	88683122	T	C	253896	Benign	Hereditary_cancer-predisposing_syndrome|not_sp...	0.38982	0.35376	0.49661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7614	435339	10	88817578	GA	G	429134	Likely_benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7615	129164	10	88820789	T	C	134610	Benign/Likely_benign	Hyperinsulinism-hyperammonemia_syndrome|not_sp...	0.06943	0.12206	0.16773	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7616	810888	10	89623716	G	A	799618	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7617	440217	10	89623901	G	C	433880	Benign	not_specified	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7618	440219	10	89653686	A	G	433072	Benign	not_specified	.	.	0.41793	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7619	92810	10	89720907	T	G	98717	Benign	PTEN_hamartoma_tumor_syndrome|not_specified	0.37864	0.36991	0.43251	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7620	301463	10	89726745	T	C	323162	Benign	PTEN_hamartoma_tumor_syndrome	.	.	0.3734	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7621	674576	10	90695243	G	A	665309	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7622	680518	10	90695411	T	C	665553	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7623	674574	10	90703465	C	T	665311	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7624	680517	10	90707397	A	G	665314	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7625	254734	10	90771829	T	C	253905	Benign	Autoimmune_lymphoproliferative_syndrome|not_sp...	0.69522	0.75613	0.77536	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7626	684275	10	90975117	C	G	665316	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7627	672000	10	90982081	A	G	665559	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7628	255611	10	90983629	C	T	253907	Benign	not_specified|not_provided	0.30271	0.39928	0.45427	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7629	672051	10	90984787	T	G	665317	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7630	255610	10	90984990	G	A	253908	Benign	not_specified|Wolman_disease|not_provided	0.165	.	0.31889	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7631	684273	10	90987007	T	C	665329	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7632	684269	10	91005854	C	T	665330	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7633	195049	10	91007360	T	G	192211	Benign	Lysosomal_acid_lipase_deficiency|not_specified...	0.24097	0.31632	0.28614	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7634	684268	10	91007470	C	A	665561	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7635	301603	10	92672564	T	C	323274	Likely_benign	Dilated_Cardiomyopathy,_Dominant	.	.	0.35423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7636	683101	10	92679630	G	C	664729	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7637	301613	10	92680929	A	G	323878	Benign/Likely_benign	Dilated_Cardiomyopathy,_Dominant|not_provided	.	.	0.66234	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7638	259411	10	94366898	A	G	253910	Benign	not_specified	0.14447	0.0633	0.15495	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7639	259408	10	94392459	A	T	253911	Benign	not_specified	0.159	0.08508	0.17812	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7640	211273	10	94409586	T	A	207803	Benign	not_specified|not_provided	0.00477	0.00466	0.0024	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7641	778469	10	94834568	C	G	701479	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7642	95346	10	95372734	G	A	101245	Benign/Likely_benign	Achromatopsia|not_specified|Cone-Rod_Dystrophy...	0.19453	.	0.16434	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7643	259938	10	95389041	G	A	253917	Benign	Achromatopsia|not_specified|Cone-Rod_Dystrophy...	0.36629	0.34962	0.39577	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7644	259939	10	95389083	A	G	253918	Benign	not_specified	0.36845	0.35157	0.39617	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7645	259940	10	95395247	A	G	253920	Benign	Achromatopsia|not_specified|Cone-Rod_Dystrophy...	0.73751	0.73967	0.72883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7646	259942	10	95395364	C	G	253921	Benign/Likely_benign	Achromatopsia|not_specified|Cone-Rod_Dystrophy...	0.22913	.	0.23522	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7647	259943	10	95405814	C	A	253922	Benign	Achromatopsia|not_specified|Cone-Rod_Dystrophy...	0.42342	0.46045	0.41334	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7648	683030	10	95537587	C	T	665569	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7649	684055	10	95549595	C	A	665347	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7650	683031	10	95549671	A	G	665570	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7651	301662	10	95557775	T	C	311731	Likely_benign	Familial_temporal_lobe_epilepsy_1	.	.	0.00519	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7652	301666	10	95753822	A	G	323939	Benign	Nephrotic_syndrome	.	.	0.55252	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7653	301676	10	95790669	G	A	323351	Benign	Nephrotic_syndrome	.	.	0.36701	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7654	260733	10	95791613	T	C	253928	Benign	Nephrotic_syndrome|Nephrotic_syndrome,_type_3|...	0.39654	0.3197	0.46046	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7655	260734	10	95791763	G	A	253929	Benign	Nephrotic_syndrome|Nephrotic_syndrome,_type_3|...	0.31824	0.28604	0.3782	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7656	260712	10	95931087	G	T	253931	Benign	Nephrotic_syndrome|Nephrotic_syndrome,_type_3|...	0.17173	.	0.20108	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7657	260722	10	96044734	C	A	253940	Benign	Nephrotic_syndrome|Nephrotic_syndrome,_type_3|...	0.27175	0.34313	0.23023	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7658	260729	10	96076495	C	G	253946	Benign	Nephrotic_syndrome|not_specified	0.1188	0.14555	0.08706	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7659	225947	10	96405502	G	A	227769	drug_response	warfarin_response_-_Dosage	.	.	0.24541	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7660	666243	10	96535124	A	G	622287	.	.	0.16193	0.18627	0.22844	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7661	16897	10	96541616	G	A	31936	drug_response	Mephenytoin,_poor_metabolism_of|Proguanil,_poo...	0.15413	0.18563	0.22145	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7662	301746	10	97365820	G	A	324029	Benign	Cutis_laxa,_recessive	.	.	0.20048	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7663	301749	10	97366107	A	G	324059	Benign	Cutis_laxa,_recessive	.	.	0.20008	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7664	301753	10	97366364	C	T	324060	Benign	Cutis_laxa,_recessive	.	.	0.29792	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7665	678446	10	97366746	C	T	664731	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7666	258825	10	97369939	C	T	253949	Benign	Cutis_laxa-corneal_clouding-oligophrenia_syndr...	0.39328	0.41083	0.27955	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7667	683044	10	97370331	T	G	665352	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7668	678444	10	97370989	T	A	665341	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7669	683043	10	97373193	G	GA	665576	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7670	683038	10	97373200	T	A	665588	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7671	678443	10	97373966	A	C	665593	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7672	683037	10	97385492	G	A	665606	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7673	683818	10	97388579	C	T	664744	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7674	683036	10	97393678	G	A	665355	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7675	258826	10	97397227	T	C	253953	Benign	not_specified|not_provided	0.66669	0.68616	0.64257	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7676	682757	10	97397486	G	A	665616	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7677	670229	10	97440572	G	C	665618	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7678	674960	10	97442995	A	G	665375	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7679	670228	10	97444603	C	T	665628	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7680	674959	10	97446206	G	A	664757	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7681	130577	10	97447373	A	T	136023	Benign	not_specified	0.35176	0.3544	0.42472	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7682	260669	10	97447487	T	A	253956	Benign	not_specified	0.19699	0.16291	0.19529	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7683	402427	10	97990583	A	G	390501	Benign	not_specified	0.5582	.	0.46126	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7684	204259	10	99359406	C	T	200664	Uncertain_significance	Primary_hyperoxaluria,_type_III	0.09289	0.08388	0.07268	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7685	301827	10	99498234	G	A	323498	Benign	Spastic_paraplegia,_autosomal_dominant|not_pro...	0.5223	0.53042	0.4369	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7686	130787	10	99504630	G	T	136233	Benign	not_specified|Spastic_paraplegia,_autosomal_do...	0.76384	0.73238	0.69649	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7687	301841	10	99519097	A	G	317478	Benign	Spastic_paraplegia,_autosomal_dominant	0.75903	0.73046	0.67971	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7688	301846	10	99519305	T	C	324172	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.74201	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7689	301847	10	99519424	G	A	317487	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.73423	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7690	301850	10	99519753	G	A	311862	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.67891	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7691	298309	10	100176104	AGG	GGA	317492	Uncertain_significance	Hermansky-Pudlak_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7692	298311	10	100176154	C	T	317495	Benign	Hermansky-Pudlak_syndrome	.	.	0.43091	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7693	298314	10	100176339	A	G	323522	Benign	Hermansky-Pudlak_syndrome	.	.	0.57228	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7694	298315	10	100176366	T	C	323544	Benign	Hermansky-Pudlak_syndrome	.	.	0.57228	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7695	298322	10	100176615	G	C	311898	Benign	Hermansky-Pudlak_syndrome	.	.	0.59045	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7696	298329	10	100176869	C	T	317497	Benign	Hermansky-Pudlak_syndrome	.	.	0.46146	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7697	298332	10	100176997	A	G	311903	Benign	Hermansky-Pudlak_syndrome	.	.	0.53894	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7698	298333	10	100177049	G	A	317527	Benign	Hermansky-Pudlak_syndrome	.	.	0.52636	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7699	167184	10	100182285	T	C	175332	Benign	Hermansky-Pudlak_syndrome|not_specified	0.20591	0.26959	0.25759	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7700	255500	10	100184062	CC	AG	253962	Benign/Likely_benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7701	163666	10	100195130	G	A	175056	Benign/Likely_benign	Hermansky-Pudlak_syndrome|not_specified	0.04367	0.06335	0.0639	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7702	802626	10	100219374	T	A	791020	Benign	Urofacial_syndrome_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7703	713620	10	101163636	G	A	730720	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7704	298375	10	101469605	G	A	323571	Benign	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	0.82628	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7705	298377	10	101469903	T	G	311921	Likely_benign	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	0.10643	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7706	298385	10	101470858	C	CA	317617	Benign	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7707	298387	10	101470927	A	G	311927	Likely_benign	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	0.1264	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7708	128836	10	101473218	A	G	134284	Benign	Hepatic_failure,_early-onset,_and_neurologic_d...	0.83485	0.86101	0.82708	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7709	683434	10	101473535	C	T	664772	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7710	298432	10	101492241	G	A	311989	Likely_benign	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	0.53874	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7711	298434	10	101492403	T	G	317652	Likely_benign	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	0.54014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7712	298437	10	101542578	C	T	323615	Benign/Likely_benign	Dubin-Johnson_syndrome|not_specified	0.15216	0.16868	0.13498	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7713	802627	10	101544447	A	T	791021	Benign	Dubin-Johnson_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7714	196101	10	101604207	C	T	193262	Benign	Dubin-Johnson_syndrome|not_specified	0.33354	.	0.28814	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7715	94387	10	102506070	G	C	100287	Benign	Renal_coloboma_syndrome|not_specified	0.77499	.	0.84665	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7716	136593	10	102747363	G	T	140296	Benign	Mitochondrial_DNA_depletion_syndrome|not_speci...	.	.	0.41214	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7717	683418	10	102749933	GATGGCA	G	664765	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7718	298513	10	102753788	C	G	309222	Benign	Mitochondrial_DNA_depletion_syndrome|Autosomal...	.	.	0.05751	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7719	44129	10	102770082	T	G	53297	Benign	not_specified|not_provided	.	0.81221	0.77296	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7720	44126	10	102770293	T	TGCTGCG	53294	Benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7721	44124	10	102770327	A	G	53292	Benign	not_specified|not_provided	.	0.81087	0.77616	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7722	683855	10	102770953	A	C	663984	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7723	672460	10	102772211	A	G	664489	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7724	672433	10	102772256	G	A	663986	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7725	683852	10	102772283	A	C	664493	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7726	667958	10	102775716	G	A	664540	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7727	683842	10	102776398	C	G	663989	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7728	682679	10	102777461	T	C	663991	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7729	682678	10	102777768	C	G	664544	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7730	682677	10	102780312	G	T	664785	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7731	683837	10	102780638	A	C	664494	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7732	667957	10	102782309	A	C	664793	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7733	46211	10	102783678	T	C	55376	Benign	not_specified|not_provided	0.66146	0.5777	0.59605	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7734	193449	10	103454402	A	T	190613	Benign/Likely_benign	Split-hand/foot_malformation|not_specified	0.10392	0.22882	0.09525	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7735	196404	10	103991381	G	A	193565	Benign	not_specified|not_provided	0.66323	0.64697	0.66414	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7736	403232	10	104157727	C	T	389832	Benign	not_specified	0.92219	0.96458	0.92213	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7737	403233	10	104159196	A	G	389920	Benign	not_specified	0.99186	0.9971	0.98682	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7738	403234	10	104160434	A	G	389836	Benign	not_specified	0.98948	0.99677	0.98682	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7739	677127	10	104263675	T	C	664497	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7740	260689	10	104264107	C	T	253668	Benign	not_specified|not_provided	0.47955	0.48567	0.39617	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7741	677128	10	104264280	C	T	664499	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7742	677129	10	104268877	G	C	664547	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7743	677130	10	104269217	G	A	664507	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7744	677131	10	104269301	G	A	664511	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7745	677132	10	104352124	C	CCATTT	664513	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7746	677133	10	104374815	G	C	663998	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7747	260688	10	104387019	T	C	253670	Benign	not_specified|not_provided	0.68115	0.66275	0.71965	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7748	298587	10	104391034	C	T	309286	Likely_benign	Medulloblastoma	.	.	0.19449	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7749	298607	10	104392580	C	T	319883	Likely_benign	Medulloblastoma	.	.	0.1234	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7750	137063	10	104592249	A	C	140766	Benign	not_specified|not_provided	0.22044	0.22378	0.13878	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7751	761000	10	104594906	T	G	775608	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7752	298624	10	104596924	C	A	314017	Benign	Congenital_adrenal_hyperplasia|not_provided	0.38329	.	0.41034	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7753	298625	10	104596981	G	A	314018	Benign	Congenital_adrenal_hyperplasia|not_provided	0.3949	0.42478	0.44249	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7754	298630	10	104597152	A	G	314022	Benign	Congenital_adrenal_hyperplasia	0.38234	.	0.41054	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7755	298645	10	104814162	T	C	319953	Benign	Renal_Hypomagnesemia,_Dominant	0.39021	0.41992	0.43251	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7756	298651	10	104836940	C	T	314056	Benign	Renal_Hypomagnesemia,_Dominant	0.10779	0.11458	0.07708	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7757	298665	10	104837816	G	A	320488	Benign	Renal_Hypomagnesemia,_Dominant	.	.	0.26278	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7758	380852	10	104849468	G	A	371502	Benign	not_specified	0.39682	0.4171	0.42213	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7759	667762	10	104851285	G	A	664522	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7760	667744	10	104851396	G	T	664527	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7761	667742	10	104852648	G	A	664537	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7762	667740	10	104852659	A	AAACTT	664004	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7763	667734	10	104855670	G	A	664548	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7764	667739	10	104857205	GA	G	664812	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7765	667737	10	104857218	A	C	664005	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7766	667735	10	104857234	C	A	664818	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7767	667538	10	104860053	T	A	664553	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7768	667537	10	104866062	C	T	664556	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7769	380851	10	104934709	T	C	371505	Benign	not_specified	0.1101	0.11381	0.07668	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7770	380850	10	104953007	C	G	371524	Benign	not_specified	.	.	0.81969	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7771	768386	10	105110740	A	AGGAGGC	701154	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7772	298673	10	105791355	C	T	319982	Benign	Epidermolysis_bullosa,_junctional	.	.	0.1885	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7773	298676	10	105791629	CA	C	320507	Benign	Epidermolysis_bullosa,_junctional	.	.	0.24661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7774	298678	10	105791929	C	G	309383	Benign	Epidermolysis_bullosa,_junctional	0.23193	.	0.22883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7775	256274	10	105796399	G	C	253672	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.7229	0.78044	0.69149	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7776	256273	10	105796819	A	G	253673	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.98624	0.99643	0.98602	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7777	256272	10	105797378	G	A	253674	Benign	not_specified	0.71636	0.77809	0.68291	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7778	256271	10	105798872	T	C	253675	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.72251	.	0.68151	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7779	256270	10	105799216	G	T	253676	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.71513	0.77687	0.68351	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7780	256269	10	105801253	G	A	253677	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.71813	0.77249	0.67392	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7781	256268	10	105805497	C	T	253678	Benign	not_specified	0.43242	0.4945	0.4361	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7782	298718	10	105810371	T	G	320575	Conflicting_interpretations_of_pathogenicity	Epidermolysis_bullosa,_junctional|not_provided	0.00123	0.00277	0.0022	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7783	256267	10	105810400	T	C	253679	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.71905	0.78034	0.69369	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7784	298725	10	105815116	A	G	320577	Likely_benign	Epidermolysis_bullosa,_junctional	0.11741	0.13902	0.09964	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7785	256266	10	105816916	C	T	253680	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.84887	0.93566	0.81849	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7786	256263	10	105819956	G	A	253682	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.5552	0.64732	0.55252	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7787	256276	10	105824333	G	A	253683	Benign	Epidermolysis_bullosa,_junctional|not_specified	0.58512	0.67395	0.5649	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7788	667614	10	112327119	A	G	664557	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7789	674950	10	112328838	C	G	664832	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7790	670110	10	112333272	G	A	664008	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7791	259770	10	112337693	T	A	253686	Benign	not_specified	0.05022	.	0.14197	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7792	259771	10	112341636	A	C	253687	Benign	not_specified	0.09652	0.14944	0.14816	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7793	159992	10	112343591	G	A	168820	Benign	not_specified|Cornelia_de_Lange_Syndrome	0.09731	0.14899	0.14816	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7794	259765	10	112343923	T	C	253688	Benign	not_specified	0.09811	0.14885	0.14816	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7795	670112	10	112349204	A	G	664566	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7796	259768	10	112356331	G	A	253691	Benign	not_specified|not_provided	0.97262	0.97925	0.95727	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7797	670113	10	112359740	A	T	664551	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7798	670114	10	112360002	G	A	664834	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7799	259769	10	112360936	A	G	253692	Benign	not_specified	0.09756	.	0.14896	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7800	159985	10	112361870	A	G	168840	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.98985	.	0.98682	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7801	674952	10	112362019	G	T	664567	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7802	44029	10	112404302	G	A	53197	Benign/Likely_benign	Cardiomyopathy|not_specified|Cardiovascular_ph...	.	0.15223	0.22224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7803	671182	10	112543217	G	A	664564	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7804	673055	10	112543345	G	A	664579	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7805	671183	10	112544063	A	C	664030	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7806	43975	10	112544655	C	T	53143	Benign/Likely_benign	not_specified|Dilated_Cardiomyopathy,_Dominant	0.21901	0.16402	0.16414	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7807	138901	10	112572458	G	C	142604	Benign/Likely_benign	Cardiomyopathy|Dilated_cardiomyopathy_1DD|not_...	.	.	0.99101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7808	671184	10	112572873	T	C	664589	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7809	671185	10	112572930	G	A	664590	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7810	672036	10	112579663	C	T	664860	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7811	672037	10	112580880	C	T	664037	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7812	678595	10	112583606	A	G	664594	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7813	678597	10	112590582	G	A	664040	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7814	44012	10	112590810	G	C	53180	Benign/Likely_benign	Dilated_cardiomyopathy_1DD|not_specified|Dilat...	0.97131	0.988	0.96965	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7815	672038	10	112591134	A	G	664041	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7816	44016	10	112595719	G	C	53184	Benign/Likely_benign	Dilated_cardiomyopathy_1DD|not_specified|Cardi...	0.75843	.	0.69709	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7817	298808	10	112596122	T	C	320661	Likely_benign	Dilated_Cardiomyopathy,_Dominant	.	.	0.01378	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7818	561542	10	112745766	T	C	552614	Benign	not_provided	.	.	0.45048	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7819	561589	10	112760544	A	G	552615	Benign	not_provided	.	.	0.97145	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7820	41450	10	112764594	T	C	49888	Benign	not_specified|not_provided	0.82255	0.83475	0.84325	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7821	561497	10	112768818	C	T	552618	Likely_benign	not_provided	.	.	0.01138	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7822	561496	10	112768850	A	C	552619	Benign	not_provided	.	.	0.39417	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7823	511078	10	112836503	G	C	502747	Likely_benign	not_specified	.	.	0.45647	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7824	298892	10	115312811	T	C	320281	Likely_benign	Factor_VII_Marburg_I_Variant_Thrombophilia	.	.	0.32228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7825	298898	10	115334124	C	T	314323	Likely_benign	Factor_VII_Marburg_I_Variant_Thrombophilia	0.54406	0.62349	0.53455	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7826	298912	10	115341753	G	A	314337	Likely_benign	Factor_VII_Marburg_I_Variant_Thrombophilia	0.41911	0.40036	0.377	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7827	298915	10	115341846	G	A	309537	Likely_benign	Factor_VII_Marburg_I_Variant_Thrombophilia	0.41835	.	0.3762	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7828	298930	10	115348726	GA	G	320351	Likely_benign	Factor_VII_Marburg_I_Variant_Thrombophilia	.	0.34897	0.34764	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7829	760916	10	115485245	G	A	767642	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7830	17747	10	115804036	A	G	32786	Likely_benign	Resting_heart_rate|not_specified	.	0.304	0.17772	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7831	17746	10	115805056	G	C	32785	drug_response	Congestive_heart_failure_and_beta-blocker_resp...	.	0.736	0.70168	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7832	780913	10	118969353	C	A	712183	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7833	683832	10	120907043	C	G	664599	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7834	683829	10	120916539	T	C	664615	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7835	380007	10	120917445	G	A	371170	Benign	not_specified|not_provided	0.48239	0.49633	0.50998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7836	683828	10	120917858	T	C	664055	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7837	683826	10	120918950	C	T	664888	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7838	380006	10	120920588	T	C	371173	Benign	not_specified|not_provided	0.46686	0.48192	0.49441	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7839	683825	10	120924874	G	C	664622	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7840	683824	10	120925433	G	C	664059	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7841	671234	10	121410670	C	T	664065	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7842	671337	10	121429072	A	G	664625	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7843	675495	10	121432208	A	G	664909	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7844	259263	10	121435955	A	C	253698	Benign	not_specified	0.72016	0.67674	0.63518	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7845	44777	10	121436362	A	G	53944	Benign	Myofibrillar_myopathy,_BAG3-related|not_specif...	0.77034	0.7409	0.70647	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7846	298967	10	121437031	CTTG	C	320409	Benign	Dilated_Cardiomyopathy,_Dominant|Myofibrillar_...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7847	298973	10	121437329	A	G	309576	Benign	Dilated_Cardiomyopathy,_Dominant|Myofibrillar_...	.	.	0.15316	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7848	298991	10	123239112	G	A	309584	Benign	Craniosynostosis|Crouzon_syndrome|Acrocephalos...	0.43452	0.53105	0.41434	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7849	667903	10	123241373	C	T	664070	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7850	667902	10	123241496	T	C	664912	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7851	667901	10	123242026	T	C	664913	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7852	255317	10	123243197	G	A	253699	Benign	Craniosynostosis|Crouzon_syndrome|Acrocephalos...	0.45441	0.56138	0.42312	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7853	667900	10	123246612	G	A	664919	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7854	667899	10	123279866	C	T	664927	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7855	255319	10	123298158	T	C	253704	Benign	Craniosynostosis|Crouzon_syndrome|Acrocephalos...	0.76672	.	0.79533	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7856	299019	10	123357561	C	T	320469	Benign	Craniosynostosis|Crouzon_syndrome|Acrocephalos...	.	.	0.71026	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7857	299029	10	124214355	C	T	314432	Likely_benign	Macular_degeneration	0.12546	.	0.11442	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7858	299039	10	124216825	T	C	309623	Likely_benign	Macular_degeneration	.	.	0.05192	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7859	299041	10	124216834	A	C	314437	Likely_benign	Macular_degeneration	.	.	0.05192	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7860	21325	10	124221276	G	C	34177	Benign/Likely_benign	Macular_degeneration|Cerebral_autosomal_recess...	.	.	0.04892	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7861	299054	10	124271589	G	A	309634	Benign/Likely_benign	Macular_degeneration|not_provided	0.99939	0.99984	0.9994	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7862	299055	10	124271595	G	A	320494	Likely_benign	Macular_degeneration	0.65062	0.61126	0.628	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7863	768398	10	124351954	G	A	701230	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7864	402577	10	124595874	GA	G	389937	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7865	368893	10	124768423	G	A	353122	Likely_benign	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	0.01298	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7866	299060	10	124768437	A	AG	321002	Likely_benign	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7867	299089	10	124812685	AT	A	320535	Uncertain_significance	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7868	299099	10	124813543	C	T	320547	Benign	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	0.44149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7869	299119	10	124815149	C	G	309669	Benign	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	0.89537	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7870	299126	10	124815394	G	A	321076	Likely_benign	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	0.10104	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7871	299128	10	124815456	A	C	321077	Benign	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	0.17272	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7872	299134	10	124815771	T	C	314520	Benign	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	0.16154	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7873	299143	10	124816515	C	G	321087	Benign	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	0.96226	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7874	299152	10	124817100	A	G	309686	Benign	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	0.96226	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7875	299160	10	124817748	A	T	320612	Benign	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	.	.	0.33387	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7876	683257	10	126086730	G	A	664657	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7877	161	10	126089434	G	A	15200	Benign	Ornithine_aminotransferase_deficiency|not_prov...	.	0.41803	0.40994	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7878	683256	10	126089656	T	G	664627	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7879	683255	10	126089703	G	A	664933	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7880	672113	10	126090562	T	C	664628	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7881	684343	10	126091938	C	G	664074	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7882	167396	10	126093991	T	C	177892	Benign	Ornithine_aminotransferase_deficiency|not_spec...	0.8087	0.85261	0.86582	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7883	683242	10	126100850	T	C	664942	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7884	299181	10	126107506	A	C	320637	Benign	Ornithine_aminotransferase_deficiency	.	.	0.86302	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7885	299198	10	127511756	C	T	321178	Benign	Congenital_erythropoietic_porphyria	.	.	0.3732	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7886	225268	10	127511790	G	T	227033	Benign	Congenital_erythropoietic_porphyria	.	.	0.37939	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7887	771743	10	131964784	G	A	701252	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7888	683765	10	135179777	C	T	664632	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7889	379966	10	135180430	A	G	373332	Benign	not_specified	0.94187	0.98411	0.94788	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7890	683763	10	135183094	C	A	664688	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7891	683762	10	135183709	G	T	664656	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7892	683761	10	135183802	T	C	664661	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7893	379965	10	135184126	G	A	370659	Benign	not_specified	0.80134	0.91308	0.82129	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7894	683758	10	135184421	C	G	664952	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7895	683757	10	135184555	T	G	664086	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7896	402581	10	135347397	T	C	389879	Benign	not_specified	0.96525	0.99116	0.97284	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7897	402582	10	135351362	T	C	389938	Benign	not_specified	0.71821	0.83022	0.70088	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7898	768404	11	193112	C	T	701694	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7899	768405	11	193722	A	G	701695	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7900	669653	11	299091	G	C	665036	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7901	674990	11	299219	C	A	665986	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7902	193131	11	299411	C	G	190296	Benign	Osteogenesis_imperfecta_type_5|not_specified	0.38807	.	0.59265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7903	674885	11	299586	A	G	665688	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7904	667613	11	299719	T	A	665859	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7905	667612	11	299749	G	A	665863	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7906	561388	11	532923	A	C	552660	Benign	not_provided	.	.	0.05611	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7907	40431	11	534242	A	G	48901	Benign	Costello_syndrome|Rasopathy|not_specified|not_...	0.35453	0.31352	0.29712	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7908	561357	11	534403	GCCCAGGCCCAGC	GCCCAGG,G	552665	Benign	not_provided	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7909	476072	11	615010	GA	TT	461411	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7910	306252	11	791462	G	A	322136	Benign	Early_Infantile_Epileptic_Encephalopathy,_Auto...	.	.	0.29932	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7911	670574	11	795374	CT	C,CC	666116	Benign	not_provided	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7912	667943	11	819486	T	C	665287	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7913	667944	11	820127	T	G	666312	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7914	261245	11	822622	A	G	254345	Benign	not_specified	0.55924	0.53418	0.44249	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7915	252728	11	823729	C	T	247067	Benign/Likely_benign	Neutral_lipid_storage_disease_with_myopathy|no...	0.01759	.	0.00759	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7916	261236	11	824789	T	C	254357	Benign	Neutral_lipid_storage_disease_with_myopathy|no...	0.70684	0.59237	0.65435	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7917	306309	11	824987	CTGCA	C	328307	Benign	Neutral_lipid_storage_disease_with_myopathy	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7918	306310	11	825110	A	G	328308	Benign	Neutral_lipid_storage_disease_with_myopathy	.	.	0.34225	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7919	178786	11	1250488	C	T	175377	Benign	not_specified	0.31804	0.43955	0.39277	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7920	163995	11	1252708	G	C	175100	Benign	not_specified	0.52881	.	0.56949	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7921	163996	11	1253401	C	G	175799	Benign	not_specified	0.39738	.	0.46446	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7922	163997	11	1253942	T	C	175659	Benign	not_specified	0.60688	0.64398	0.54493	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7923	403127	11	1255089	CCCCTG	C	389907	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7924	163998	11	1255773	C	T	175660	Benign	not_specified	0.25578	0.37979	0.33946	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7925	403133	11	1264183	G	A	389975	Benign	not_specified	0.11467	0.12254	0.08526	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7926	403141	11	1264890	A	G	389852	Benign	not_specified	0.0832	0.13916	0.09764	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7927	403147	11	1266696	A	C	389977	Benign	not_specified	.	0.19789	0.32149	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7928	403148	11	1266716	T	C	389927	Benign	not_specified	.	0.16938	0.29493	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7929	403150	11	1267325	T	C	389877	Benign	not_specified	0.30237	0.48968	0.48063	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7930	403159	11	1267960	A	G	389881	Benign	not_specified	0.67401	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7931	403165	11	1268931	A	C	389999	Benign	not_specified	.	.	0.28894	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7932	403171	11	1269835	G	A	389954	Benign	not_specified	.	.	0.46146	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7933	403175	11	1271429	C	T	390023	Benign	not_specified	0.38796	.	0.46705	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7934	403179	11	1272226	A	C	390027	Benign	not_specified	0.4698	.	0.54034	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7935	403180	11	1272858	C	T	390035	Benign	not_specified	0.26012	0.31906	0.33886	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7936	303822	11	1774136	T	G	319538	Likely_benign	Neuronal_Ceroid-Lipofuscinosis,_Dominant/Reces...	.	.	0.15595	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7937	303831	11	1774666	T	C	313438	Likely_benign	Neuronal_Ceroid-Lipofuscinosis,_Dominant/Reces...	.	.	0.20048	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7938	670819	11	1774934	A	G	665706	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7939	258490	11	1775385	C	T	254079	Benign	Ceroid_lipofuscinosis_neuronal_10|not_specifie...	0.05427	0.07866	0.05232	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7940	128876	11	1780205	A	G	134324	Benign/Likely_benign	Seizures|Ceroid_lipofuscinosis_neuronal_10|not...	0.08952	0.07837	0.07628	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7941	128875	11	1780867	G	A	134323	Benign/Likely_benign	Seizures|Ceroid_lipofuscinosis_neuronal_10|not...	0.06423	0.07131	0.05531	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7942	128873	11	1782594	G	A	134321	Benign/Likely_benign	Seizures|Ceroid_lipofuscinosis_neuronal_10|not...	0.06437	0.07041	0.05531	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7943	669403	11	1785401	T	C	665626	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7944	140481	11	1861225	C	A	150159	not_provided	not_provided	.	.	0.17372	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7945	94120	11	1861760	T	C	100020	Benign/Likely_benign	Arthrogryposis_multiplex_congenita_distal|Arth...	0.80324	.	0.82768	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7946	259023	11	1862168	C	T	254092	Benign	not_specified	0.19966	0.26589	0.17692	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7947	31866	11	1943605	G	A	40526	not_provided	not_provided	.	.	0.78135	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7948	31868	11	1944202	A	G	40528	not_provided	not_provided	0.72339	.	0.77975	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7949	31869	11	1944636	A	T	40529	not_provided	not_provided	.	.	0.8105	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7950	260032	11	1950302	A	G	254096	Benign	not_specified	0.79995	.	0.82428	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7951	304051	11	2181060	T	G	326978	Benign	Maturity_onset_diabetes_mellitus_in_young|Sega...	0.54755	0.7378	0.64916	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7952	255532	11	2182004	A	G	254106	Benign	Maturity_onset_diabetes_mellitus_in_young|Sega...	0.93187	0.98049	0.93391	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7953	304059	11	2182224	A	T	319828	Benign	Maturity_onset_diabetes_mellitus_in_young|Sega...	0.56714	0.7268	0.64956	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7954	263257	11	2189185	G	A	254111	Benign	not_specified	0.60247	0.71949	0.70567	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7955	526231	11	2190591	C	G	526178	Benign	Dystonia	.	.	0.2502	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7956	21866	11	2190951	C	T	34718	Benign	Segawa_syndrome,_autosomal_recessive|not_speci...	0.288	0.4249	0.43051	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7957	671897	11	2789856	A	G	665973	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7958	42488	11	2797237	G	A	51658	Benign	Arrhythmia|Long_QT_syndrome|Jervell_and_Lange-...	0.14351	0.25844	0.18091	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7959	671898	11	2798448	A	G	665855	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7960	671899	11	2868878	T	C	665983	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7961	304249	11	2869712	G	A	326211	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	.	0.10548	0.09105	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7962	304262	11	2870108	A	G	320017	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	.	0.44813	0.52177	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7963	304268	11	2870165	A	G	320030	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	.	0.44745	0.51538	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7964	254879	11	2905204	G	GC	254131	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7965	768417	11	2923826	A	G	701720	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7966	768418	11	2930594	CG	C	777942	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7967	258966	11	4103524	A	G	254154	Benign	not_specified	0.43876	0.4996	0.38898	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7968	258971	11	4104745	C	G	254158	Benign	not_specified	0.79055	0.88996	0.8121	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7969	769375	11	4615508	C	G	701771	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7970	403275	11	4790873	CG	C	390067	Benign	not_specified	0.31954	0.21287	0.21586	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7971	403274	11	4976145	C	G	390070	Benign	not_specified	.	0.13541	0.30312	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7972	256342	11	5246512	T	G	254201	Benign	not_specified	.	.	0.71026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7973	256341	11	5246595	C	G	254202	Benign	not_specified|not_provided	.	.	0.09924	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7974	36316	11	5247141	G	A	44980	Benign	beta_Thalassemia|not_specified|not_provided	.	.	0.71386	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7975	439774	11	5247726	G	A	433082	Benign	beta_Thalassemia|not_specified|not_provided	.	.	0.09924	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7976	256345	11	5247791	C	G	254206	Benign/Likely_benign	beta_Thalassemia|not_specified	0.8509	0.7699	0.72005	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7977	193106	11	5248243	A	G	190271	Benign	Hb_SS_disease|beta_Thalassemia|Fetal_hemoglobi...	.	.	0.71426	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7978	219307	11	6235656	G	A	220996	Uncertain_significance	Malignant_tumor_of_prostate	0.00546	0.00423	0.0026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7979	256592	11	6411935	TGCTGGC	T	254229	Benign	not_specified|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7980	93317	11	6415463	G	A	99224	Benign/Likely_benign	Sphingomyelin/cholesterol_lipidosis|not_specif...	0.19809	0.19174	0.14996	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7981	674309	11	6550309	G	A	656069	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7982	201786	11	6630028	TC	T	198367	Benign	Cardiomyopathy|not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7983	305489	11	6634149	C	T	328601	Benign	Neuronal_Ceroid-Lipofuscinosis,_Recessive	.	.	0.8103	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7984	305490	11	6634189	G	A	327528	Benign	Neuronal_Ceroid-Lipofuscinosis,_Recessive	.	.	0.44888	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7985	558850	11	6637518	A	G	549679	Benign	not_provided	0.98961	0.99686	0.98982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7986	305512	11	6637739	AT	A	321432	Uncertain_significance	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7987	558856	11	6638506	A	T	549685	Benign	not_provided	0.46568	0.54941	0.46206	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7988	773524	11	6646898	C	T	701905	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7989	306557	11	9800601	G	A	328659	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.61082	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7990	306572	11	9801925	T	G	315597	Benign	Charcot-Marie-Tooth_disease_type_4	0.27229	0.30903	0.32748	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7991	669272	11	9802228	G	C	665931	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7992	673451	11	9806914	T	TACTG	666136	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7993	669269	11	9810432	G	A	666377	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7994	669268	11	9810440	C	T	665942	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7995	261940	11	9812236	G	A	254371	Benign	Charcot-Marie-Tooth_disease,_type_4B2|Charcot-...	0.88526	0.85836	0.80272	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7996	669265	11	9830732	A	T	665304	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7997	669264	11	9834403	A	G	665972	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7998	669263	11	9834428	C	G	665974	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
7999	669262	11	9838235	A	G	666140	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8000	669306	11	9851276	G	A	665320	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8001	671682	11	9851331	C	T	666379	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8002	138965	11	9853777	G	C	142668	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_4|not_specifi...	0.08229	0.09873	0.08227	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8003	669260	11	9854112	A	G	665980	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8004	670562	11	9861009	G	A	666383	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8005	669259	11	9863927	A	C	666384	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8006	669258	11	9868840	A	G	665322	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8007	672627	11	9871849	C	T	666397	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8008	672626	11	9874505	T	G	665325	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8009	670561	11	9875353	G	T	666152	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8010	684195	11	9917222	C	T	665990	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8011	673450	11	9917620	G	C	665327	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8012	670558	11	10215598	C	T	665379	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8013	302137	11	10476689	A	G	312171	Likely_benign	Erythrocyte_AMP_deaminase_deficiency	.	.	0.61961	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8014	302140	11	10476762	G	C	312172	Benign	Erythrocyte_AMP_deaminase_deficiency	.	.	0.99461	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8015	302142	11	10476898	T	C	324733	Likely_benign	Erythrocyte_AMP_deaminase_deficiency	.	.	0.71765	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8016	302175	11	10521764	T	C	324011	Benign/Likely_benign	Erythrocyte_AMP_deaminase_deficiency|not_speci...	0.31447	0.40837	0.36741	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8017	302181	11	10528125	A	G	317975	Benign	Erythrocyte_AMP_deaminase_deficiency	.	.	0.97484	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8018	302184	11	10528483	A	G	324028	Benign	Erythrocyte_AMP_deaminase_deficiency	.	.	0.94728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8019	302186	11	10528521	A	G	324845	Benign	Erythrocyte_AMP_deaminase_deficiency	.	.	0.99341	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8020	302190	11	10529016	G	A	312217	Benign	Erythrocyte_AMP_deaminase_deficiency	.	.	0.99401	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8021	255817	11	13514053	G	T	254060	Benign	Hypoparathyroidism_familial_isolated|not_speci...	.	0.16106	0.15136	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8022	255816	11	13514417	C	T	254061	Benign	Hypoparathyroidism_familial_isolated|not_speci...	0.51371	0.55792	0.41773	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8023	127107	11	17298104	A	C	132616	not_provided	not_provided	.	.	0.95108	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8024	127108	11	17298125	C	G	132617	Likely_pathogenic	not_provided	.	.	0.66514	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8025	127110	11	17298277	A	G	132619	not_provided	not_provided	.	.	0.10084	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8026	303722	11	17408025	A	G	326654	Likely_benign	Maturity_onset_diabetes_mellitus_in_young|Tran...	.	.	0.46885	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8027	303727	11	17408251	G	A	319470	Likely_benign	Maturity_onset_diabetes_mellitus_in_young|Tran...	.	.	0.46765	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8028	303731	11	17408404	C	T	319487	Likely_benign	Maturity_onset_diabetes_mellitus_in_young|Tran...	.	.	0.73582	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8029	158670	11	17408630	C	T	168863	Benign/Likely_benign	Maturity_onset_diabetes_mellitus_in_young|Isle...	0.73202	0.64484	0.73063	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8030	158680	11	17409069	G	A	168871	Benign/Likely_benign	Maturity_onset_diabetes_mellitus_in_young|Isle...	0.22286	.	0.22744	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8031	8678	11	17409572	T	C	23717	drug_response	glibenclamide_response_-_Efficacy|gliclazide_r...	.	0.6471	0.73702	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8032	435554	11	17410144	CA	C	429192	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8033	157704	11	17414715	T	C	167552	Likely_benign	not_specified	0.37209	0.34386	0.35623	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8034	157700	11	17417504	A	G	167548	Likely_benign	not_specified	0.47038	0.45834	0.42153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8035	157699	11	17418477	C	A	167547	Benign	Permanent_neonatal_diabetes_mellitus|not_speci...	0.73857	.	0.72644	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8036	157698	11	17419279	C	T	167546	Benign	Permanent_neonatal_diabetes_mellitus|Hyperinsu...	0.40967	0.29623	0.39097	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8037	157694	11	17429922	T	C	167542	Benign	not_specified|not_provided	0.60881	0.61247	0.61462	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8038	157688	11	17448704	G	A	167536	Benign	Permanent_neonatal_diabetes_mellitus|not_speci...	0.35361	0.43459	0.36841	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8039	157684	11	17452492	G	A	167532	Benign	Permanent_neonatal_diabetes_mellitus|Hyperinsu...	0.45873	0.43112	0.42991	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8040	446763	11	17470274	C	T	441416	Uncertain_significance	not_specified	.	.	0.0016	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8041	303793	11	17515459	C	CTGTT	325652	Benign	Retinitis_pigmentosa-deafness_syndrome|Nonsynd...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8042	667875	11	17516183	T	C	665835	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8043	48008	11	17517235	A	G	57172	Benign	not_specified	0.35207	0.40618	0.36981	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8044	678908	11	17517381	CAT	C	665590	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8045	678883	11	17517407	G	C	665837	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8046	678909	11	17518525	G	T	665660	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8047	678882	11	17522810	T	C	664971	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8048	670420	11	17523289	C	T	665666	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8049	678881	11	17525965	G	A	664973	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8050	670419	11	17531449	G	T	665858	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8051	262731	11	17532102	C	T	254073	Benign	not_specified|not_provided	0.17134	0.16359	0.19988	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8052	670417	11	17533635	G	A	665668	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8053	678880	11	17539255	C	T	665860	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8054	47976	11	17542439	T	C	57140	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.504	0.56886	0.51637	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8055	47975	11	17542491	C	T	57139	Uncertain_significance	not_specified	8e-05	0.00014	0.0006	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8056	47974	11	17542553	C	T	57138	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.0931	0.06077	0.08566	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8057	670416	11	17542583	C	T	665673	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8058	670415	11	17542586	T	C	665676	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8059	670414	11	17542649	T	C	664981	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8060	47973	11	17542872	G	C	57137	Benign	not_specified	0.41429	.	0.44269	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8061	678879	11	17545091	A	G	665865	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8062	678911	11	17545141	C	T	665682	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8063	672462	11	17545704	G	A	665685	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8064	672461	11	17545726	T	C	665602	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8065	667874	11	17546378	T	C	664982	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8066	678907	11	17548704	C	A	665694	Likely_benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8067	262736	11	17548737	T	C	254076	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8068	226892	11	17627613	G	C	230112	Benign	not_specified	.	0.76796	0.82608	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8069	768433	11	18290737	T	G	777941	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8070	262985	11	18312953	G	A	254082	Benign	not_specified	0.5765	0.61165	0.65016	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8071	262983	11	18317699	C	T	254084	Benign	not_specified	0.57894	0.59145	0.65016	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8072	183158	11	18325146	C	T	181294	association	decreased_blood_alpha-hydroxyisovalerate_levels	.	.	0.41873	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8073	163678	11	18327684	G	T	175690	Benign	Hermansky-Pudlak_syndrome|not_specified	0.71226	0.72896	0.80471	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8074	303908	11	18416048	G	GC	313482	Likely_benign	Glycogen_storage_disease_XI	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8075	683023	11	18418719	C	T	665627	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8076	683024	11	18420805	T	A	665738	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8077	303912	11	18422487	C	A	325801	Benign/Likely_benign	Glycogen_storage_disease_XI|not_specified|not_...	0.1384	0.14419	0.09744	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8078	684191	11	18424118	A	T	665925	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8079	683025	11	18424223	G	C	665630	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8080	303914	11	18424451	C	T	319682	Benign	Glycogen_storage_disease_XI|not_specified|not_...	0.63228	0.69779	0.63458	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8081	303915	11	18424487	A	G	325814	Benign	Glycogen_storage_disease_XI|not_specified|not_...	0.6298	0.69772	0.63458	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8082	558836	11	18424590	T	A	549651	Benign	not_provided	0.62779	0.70136	0.63478	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8083	683026	11	18425018	T	C	664999	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8084	684193	11	18426656	A	T	665748	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8085	683028	11	18426796	T	G	665752	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8086	683029	11	18427317	A	G	665640	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8087	684194	11	18427386	TAAAC	T	665755	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8088	303925	11	18429450	A	G	313501	Benign	Glycogen_storage_disease_XI	.	0.54839	0.4984	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8089	303926	11	18429467	T	C	313504	Benign	Glycogen_storage_disease_XI	.	0.71624	0.62999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8090	303929	11	18429548	C	G	313512	Benign	Glycogen_storage_disease_XI	.	0.54821	0.498	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8091	672012	11	19208070	C	A	665772	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8092	678472	11	19210083	C	T	665773	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8093	683441	11	19210112	G	A	665776	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8094	683439	11	19213543	C	G	665783	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8095	683438	11	19213606	A	G	665792	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8096	303991	11	20621186	C	T	319758	Benign	Hyperekplexia	0.09242	0.08897	0.0637	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8097	304002	11	20622975	G	A	319765	Benign	Hyperekplexia	0.36942	0.40668	0.40575	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8098	304003	11	20623007	C	T	313581	Benign	Hyperekplexia	0.26612	.	0.1903	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8099	304006	11	20623023	C	T	313586	Benign	Hyperekplexia	0.32452	.	0.32688	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8100	304008	11	20623042	T	C	313588	Benign	Hyperekplexia|Hyperekplexia_3	0.79502	0.77891	0.79313	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8101	304011	11	20623156	C	G	325940	Benign	Hyperekplexia|Hyperekplexia_3	0.99323	0.99832	0.99361	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8102	304018	11	20639400	A	G	325978	Benign	Hyperekplexia	0.995	.	0.9974	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8103	304026	11	20649644	T	C	319779	Benign	Hyperekplexia	0.10134	.	0.0619	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8104	304033	11	20673832	C	A	326944	Benign	Hyperekplexia	0.15247	0.16228	0.07548	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8105	304043	11	20676417	C	T	326948	Benign	Hyperekplexia	0.22974	0.18331	0.14078	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8106	304093	11	22214877	A	AAGGAGGAGGGGAATGAGGAGGAGG	319863	Benign	Gnathodiaphyseal_dysplasia|Miyoshi_myopathy|Li...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8107	140544	11	22214903	G	C	150222	Benign	not_specified|Miyoshi_myopathy|Limb-Girdle_Mus...	.	.	0.78994	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8108	140547	11	22233029	G	A	150225	Benign	not_provided	.	.	0.57648	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8109	140548	11	22233066	T	C	150226	Benign	not_provided	.	.	0.57428	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8110	140554	11	22240056	G	A	150232	Benign	not_provided	.	.	0.78994	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8111	667964	11	22240112	T	C	665646	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8112	96681	11	22242729	T	C	102574	Benign	not_specified|Miyoshi_myopathy|Limb-Girdle_Mus...	0.84443	0.77722	0.78994	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8113	140559	11	22247205	A	G	150237	not_provided	not_provided	.	.	0.78994	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8114	667965	11	22248548	T	C	665830	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8115	96687	11	22271870	A	T	102580	Benign/Likely_benign	not_specified|Miyoshi_myopathy|Limb-Girdle_Mus...	0.44864	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8116	140557	11	22297770	G	C	150235	Benign	not_provided	0.15012	.	0.20647	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8117	304121	11	22301807	A	G	326025	Likely_benign	Miyoshi_myopathy|Limb-Girdle_Muscular_Dystroph...	.	.	0.44409	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8118	304130	11	22302597	G	T	327045	Likely_benign	Miyoshi_myopathy|Limb-Girdle_Muscular_Dystroph...	.	.	0.56749	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8119	304140	11	22303067	GA	G	326053	Likely_benign	Miyoshi_myopathy|Limb-Girdle_Muscular_Dystroph...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8120	304142	11	22303200	TAAGA	T	319915	Likely_benign	Miyoshi_myopathy|Limb-Girdle_Muscular_Dystroph...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8121	304163	11	22304489	C	G	319943	Benign	Miyoshi_myopathy|Limb-Girdle_Muscular_Dystroph...	.	.	0.69289	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8122	304181	11	22644893	A	AT	327062	Uncertain_significance	Fanconi_anemia	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8123	304185	11	22645413	G	A	319949	Benign	Fanconi_anemia	.	.	0.94908	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8124	304190	11	22645600	C	T	326155	Benign	Fanconi_anemia	.	.	0.97145	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8125	304197	11	22646025	G	A	313761	Benign	Fanconi_anemia	.	.	0.70367	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8126	261630	11	22647366	G	A	254128	Benign	Fanconi_anemia|not_specified|not_provided	0.14663	.	0.11382	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8127	179329	11	27679662	T	C	175704	Benign	not_specified	0.99608	0.99891	0.99521	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8128	17697	11	27679916	C	T	32736	Benign	Memory_impairment,_susceptibility_to|not_speci...	.	0.19375	0.20128	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8129	257061	11	30255185	C	T	254134	Benign/Likely_benign	not_specified|isolated_follicle-stimulating_ho...	0.52846	0.5142	0.61482	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8130	304280	11	30255823	A	G	320035	Likely_benign	isolated_follicle-stimulating_hormone_deficiency	.	.	0.55851	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8131	304281	11	30255867	C	G	313853	Likely_benign	isolated_follicle-stimulating_hormone_deficiency	.	.	0.55871	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8132	304283	11	30255982	A	G	320036	Likely_benign	isolated_follicle-stimulating_hormone_deficiency	.	.	0.55731	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8133	304301	11	31807524	C	T	320084	Benign	Congenital_aniridia|Anophthalmia|Irido-corneo-...	.	.	0.64317	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8134	304309	11	31808235	T	TAAAA	320089	Benign	Congenital_aniridia|Anophthalmia|Irido-corneo-...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8135	304310	11	31808280	C	T	327207	Benign	Congenital_aniridia|Anophthalmia|Irido-corneo-...	.	.	0.84984	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8136	304317	11	31808585	A	AAAAT	327217	Benign	Congenital_aniridia|Anophthalmia|Irido-corneo-...	.	.	0.84784	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8137	304328	11	31809070	C	T	320108	Benign	Congenital_aniridia|Anophthalmia|Irido-corneo-...	.	.	0.17332	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8138	304334	11	31809322	C	T	327224	Benign	Congenital_aniridia|Anophthalmia|Irido-corneo-...	.	.	0.44788	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8139	304341	11	31810298	T	A	313877	Benign	Congenital_aniridia|Anophthalmia|Irido-corneo-...	.	.	0.66094	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8140	674009	11	31812582	C	T	665691	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8141	258168	11	31815362	G	A	254136	Benign	Congenital_aniridia|Anophthalmia|Irido-corneo-...	0.04592	0.07792	0.09046	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8142	768439	11	32125961	C	T	701735	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8143	403219	11	34154641	C	T	390041	Benign	not_specified	0.84869	0.93369	0.86042	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8144	559060	11	34460541	T	C	549658	Benign	not_provided	0.63109	0.6749	0.52875	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8145	126867	11	35172122	G	A	132380	association	Calcium_oxalate_urolithiasis	.	.	0.27636	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8146	126868	11	35175045	T	C	132381	association	Calcium_oxalate_urolithiasis	.	.	0.27636	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8147	126869	11	35179651	G	A	132382	association	Calcium_oxalate_urolithiasis	.	.	0.19748	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8148	126871	11	35188191	G	A	132384	association	Calcium_oxalate_urolithiasis	.	.	0.28095	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8149	126872	11	35191445	C	G	132385	association	Calcium_oxalate_urolithiasis	.	.	0.45347	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8150	126875	11	35192629	C	T	132388	association	Calcium_oxalate_urolithiasis	.	.	0.53994	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8151	126877	11	35221862	T	A	132390	association	Calcium_oxalate_urolithiasis	.	.	0.38818	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8152	304542	11	36613807	T	C	320476	Benign	Histiocytic_medullary_reticulosis|Severe_Combi...	.	.	0.61322	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8153	304561	11	36619761	A	G	326452	Likely_benign	Histiocytic_medullary_reticulosis|Severe_Combi...	.	.	0.09764	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8154	304569	11	44117409	G	T	320503	Benign	Hereditary_Multiple_Osteochondromatosis	.	.	0.08586	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8155	304623	11	44283297	T	C	326553	Benign	Enlarged_parietal_foramina	.	.	0.90735	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8156	304633	11	44283722	G	A	326556	Benign	Enlarged_parietal_foramina	.	.	0.73263	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8157	304644	11	44284294	T	C	327560	Benign	Enlarged_parietal_foramina	.	.	0.99181	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8158	304674	11	44285432	G	A	326607	Likely_benign	Enlarged_parietal_foramina	.	.	0.01378	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8159	304683	11	44285594	CCTT	C	320588	Likely_benign	Enlarged_parietal_foramina	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8160	304686	11	44285857	T	C	320593	Benign	Enlarged_parietal_foramina	.	.	0.88478	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8161	304688	11	44285887	G	A	320598	Benign	Enlarged_parietal_foramina	.	.	0.75599	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8162	304694	11	44286176	G	A	326638	Likely_benign	Enlarged_parietal_foramina	.	.	0.19908	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8163	304703	11	44289183	C	T	320622	Likely_benign	Enlarged_parietal_foramina	0.09336	0.08313	0.08007	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8164	304706	11	44297054	T	C	320633	Benign	Enlarged_parietal_foramina	0.99123	.	0.99161	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8165	304711	11	44331309	G	A	320636	Benign	Enlarged_parietal_foramina	.	0.60283	0.37201	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8166	304715	11	44331509	C	G	320646	Benign	Enlarged_parietal_foramina	0.42421	0.59144	0.47264	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8167	95903	11	45827350	A	G	101799	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.27692	0.21137	0.25	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8168	261027	11	45832295	A	G	254171	Benign	not_specified	0.21655	0.17098	0.1887	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8169	95905	11	45832509	A	G	101801	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.14342	0.09415	0.10284	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8170	261026	11	45832935	G	A	254172	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.64021	0.67412	0.45128	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8171	304748	11	45833300	G	A	327713	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.03175	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8172	304755	11	45833960	C	T	327715	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.1246	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8173	304757	11	45834044	C	T	314145	Benign	Congenital_disorder_of_glycosylation	.	.	0.72065	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8174	304759	11	45834198	T	C	326748	Benign	Congenital_disorder_of_glycosylation	.	0.77429	0.65375	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8175	304760	11	45834201	C	T	314146	Benign	Congenital_disorder_of_glycosylation	.	0.17013	0.1246	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8176	368962	11	45931218	T	C	353191	Likely_benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.03235	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8177	259547	11	45935384	A	G	254173	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)|...	0.81137	0.81545	0.6891	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8178	259546	11	45936035	G	A	254174	Benign	not_specified|not_provided	0.8066	0.81005	0.6849	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8179	802673	11	45937267	C	T	791139	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8180	259544	11	45937306	C	T	254176	Benign	not_specified|not_provided	0.01976	.	0.01318	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8181	768444	11	46342081	TG	T	778136	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8182	256315	11	46744925	G	C	254180	Benign/Likely_benign	Venous_thrombosis|Hereditary_factor_II_deficie...	0.53839	0.60261	0.45527	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8183	143996	11	46760756	G	A	153726	Uncertain_significance	Venous_thrombosis	.	.	0.28295	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8184	304838	11	46879973	A	G	326840	Benign	Syndactyly_Cenani_Lenz_type	.	.	0.58267	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8185	304850	11	46890165	C	T	320781	Benign	Syndactyly_Cenani_Lenz_type	0.66008	.	0.57967	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8186	304855	11	46893108	T	C	326858	Benign	Syndactyly_Cenani_Lenz_type	0.42531	.	0.36761	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8187	304872	11	46898771	T	C	326874	Benign	Syndactyly_Cenani_Lenz_type|not_specified	0.51615	0.5849	0.44589	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8188	304884	11	46914583	T	C	320834	Benign	Syndactyly_Cenani_Lenz_type	0.97923	0.98883	0.98083	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8189	304885	11	46914598	A	G	327831	Benign	Syndactyly_Cenani_Lenz_type	0.99577	0.99887	0.99461	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8190	188578	11	47354905	T	C	186356	Benign	not_specified	0.07868	0.10692	0.03295	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8191	680647	11	47362279	A	G	665057	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8192	680646	11	47363285	G	A	666044	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8193	680645	11	47369720	A	G	666051	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8194	42763	11	47371484	AG	A	51933	Benign/Likely_benign	Cardiomyopathy|Hypertrophic_cardiomyopathy|Lef...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8195	403458	11	47431728	A	G	390052	Benign	Spondylocheirodysplasia,_Ehlers-Danlos_syndrom...	0.94413	0.98535	0.9405	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8196	384707	11	47434986	G	A	372229	Benign	not_specified	0.24581	.	0.27057	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8197	684034	11	47460005	T	C	665908	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8198	669109	11	47460098	C	T	665909	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8199	130089	11	47460306	A	G	135535	Benign	Pena-Shokeir_syndrome_type_I|not_specified|Con...	0.61231	0.68373	0.6248	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8200	197249	11	47463483	AG	A	194410	Benign	Pena-Shokeir_syndrome_type_I|not_specified|Con...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8201	130091	11	47469439	A	G	135537	Benign	Pena-Shokeir_syndrome_type_I|not_specified|Con...	0.62011	0.68467	0.6256	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8202	679851	11	47470862	A	C	666065	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8203	683070	11	47600352	A	G	665750	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8204	768446	11	47788663	CGGTGGT	C	701795	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8205	768448	11	51516144	A	G	701804	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8206	668099	11	57427955	T	C	665910	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8207	305042	11	59611362	G	A	314350	Likely_benign	Intrinsic_factor_deficiency	0.05881	0.07472	0.05371	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8208	1742	11	59612859	T	C	16781	Benign	Intrinsic_factor_deficiency,_congenital,_susce...	.	0.06072	0.10264	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8209	260747	11	61133604	C	T	254215	Likely_benign	not_specified	0.00046	0.00044	0.0002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8210	671928	11	61133980	G	A	665081	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8211	667551	11	61135129	A	G	665912	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8212	667552	11	61159661	T	C	665914	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8213	126296	11	61165280	G	A	131828	Benign	Joubert_syndrome|Meckel-Gruber_syndrome|not_sp...	0.83228	0.86588	0.85583	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8214	167734	11	61165731	C	CA	178098	Benign	Joubert_syndrome|Meckel-Gruber_syndrome|Jouber...	0.82762	0.85933	0.85583	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8215	126297	11	61165741	G	C	131829	Benign	Joubert_syndrome|Meckel-Gruber_syndrome|Jouber...	0.70388	.	0.71965	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8216	305090	11	61166306	G	A	314380	Benign	Joubert_syndrome|Meckel-Gruber_syndrome	.	.	0.71965	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8217	260942	11	61205434	G	A	254221	Benign	not_specified	0.68659	0.8195	0.71805	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8218	305100	11	61213920	T	C	327110	Benign	Pheochromocytoma	.	.	0.86142	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8219	166753	11	61725599	A	ATCCTCCTCC	177523	Benign/Likely_benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8220	193666	11	61730036	G	A	190829	Benign	Iron_Overload|Vitelliform_macular_dystrophy_ty...	0.23427	0.22712	0.11222	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8221	99680	11	61730183	C	T	105569	Benign	Iron_Overload|Vitelliform_macular_dystrophy_ty...	0.17051	0.17516	0.10144	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8222	99682	11	61730234	T	C	105571	Benign	Iron_Overload|Vitelliform_macular_dystrophy_ty...	0.39932	0.45834	0.59145	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8223	774693	11	61897404	C	T	701832	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8224	167600	11	62381106	G	C	178019	Benign	not_specified|not_provided	0.93847	0.98221	0.9353	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8225	802680	11	62383715	G	C	791146	Benign	Multiple_joint_dislocations,_short_stature,_cr...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8226	684317	11	62438819	G	T	665916	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8227	380147	11	62439569	G	A	374164	Benign	not_specified	0.67959	0.75856	0.7494	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8228	257496	11	62458663	A	C	254222	Benign	not_specified	0.02446	0.02209	0.00978	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8229	257500	11	62459994	A	G	254223	Benign	not_specified|not_provided	0.7305	0.7756	0.7494	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8230	678151	11	62460066	T	C	665751	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8231	777228	11	63449138	C	T	701849	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8232	683606	11	63742553	T	G	665926	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8233	683608	11	63743420	A	G	665934	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8234	402862	11	63986713	C	A	390006	Benign	not_specified	0.32632	.	0.3129	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8235	402864	11	63988102	C	T	390058	Benign	not_specified	0.1585	0.18989	0.16294	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8236	305213	11	64358311	C	T	321162	Benign	Familial_renal_hypouricemia	.	.	0.38698	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8237	305218	11	64358605	T	C	321164	Benign	Familial_renal_hypouricemia	.	.	0.57189	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8238	305225	11	64358809	G	A	327258	Benign	Familial_renal_hypouricemia	.	.	0.38538	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8239	305230	11	64359286	C	T	327262	Benign	Familial_renal_hypouricemia|not_specified	0.53833	0.57795	0.38718	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8240	305233	11	64360274	T	C	328343	Benign	Familial_renal_hypouricemia|not_specified	0.53617	0.57511	0.38598	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8241	305241	11	64367325	A	G	328349	Benign	Familial_renal_hypouricemia|not_specified	0.97628	.	0.97684	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8242	305244	11	64367862	T	C	321203	Benign	Familial_renal_hypouricemia	0.31882	0.30331	0.39736	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8243	129833	11	64418900	G	A	135279	Likely_benign	not_specified	0.52416	.	0.38179	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8244	129837	11	64480641	G	A	135283	Likely_benign	not_specified	0.6844	0.72432	0.53355	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8245	680727	11	64520255	C	G	666092	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8246	668605	11	64520374	T	A	665950	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8247	259830	11	64520942	G	T	254234	Benign	not_specified	0.74946	0.81288	0.65895	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8248	259840	11	64525216	C	T	254236	Benign	not_specified	0.70199	0.79331	0.61242	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8249	134640	11	64572018	T	C	138379	Benign	not_specified|not_provided	0.90843	0.93778	0.83447	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8250	167288	11	64572557	A	G	177834	Benign	not_specified|not_provided	0.97615	0.99275	0.97604	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8251	96249	11	64572602	G	A	102143	Benign/Likely_benign	Hyperparathyroidism|Multiple_endocrine_neoplas...	0.30402	0.39335	0.30791	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8252	305317	11	64578113	T	A	321251	Benign/Likely_benign	Hyperparathyroidism|Multiple_endocrine_neoplas...	.	.	0.19728	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8253	305334	11	65485727	T	G	327435	Benign	Aicardi_Goutieres_syndrome	.	.	0.82488	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8254	402818	11	65631973	G	A	390090	Benign	not_specified	0.53078	0.57928	0.42991	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8255	402819	11	65632262	G	T	390063	Benign	not_specified	0.52986	.	0.42832	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8256	39015	11	65636053	T	C	47618	Benign	Autosomal_recessive_cutis_laxa_type_IA|Cutis_l...	0.89449	0.9695	0.89457	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8257	305388	11	65640204	C	T	327479	Benign	Cutis_laxa,_recessive|Autosomal_recessive_cuti...	.	0.7917	0.62061	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8258	305400	11	65769780	T	G	327485	Benign	Nestor-Guillermo_progeria_syndrome	.	.	0.41793	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8259	305401	11	65769809	G	C	314640	Benign	Nestor-Guillermo_progeria_syndrome	.	.	0.67692	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8260	305419	11	65787666	G	A	321354	Likely_benign	Male_infertility	0.172	0.15605	0.16254	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8261	305421	11	65788072	C	T	321357	Benign	Male_infertility	0.96244	0.97965	0.9365	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8262	305433	11	65790527	G	T	321362	Likely_benign	Male_infertility	0.45452	0.51855	0.43191	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8263	770770	11	65819931	G	T	701898	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8264	129869	11	66001418	C	T	135315	Likely_benign	not_specified	0.18784	0.17919	0.21106	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8265	129871	11	66006323	G	C	135317	Likely_benign	not_specified	0.20548	0.24239	0.22724	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8266	129872	11	66010633	T	C	135318	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.98299	0.9954	0.98303	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8267	260057	11	66114900	C	T	254254	Benign	not_specified	0.12602	0.1722	0.13938	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8268	771747	11	66191840	G	C	701922	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8269	261745	11	66299515	A	G	254262	Benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.67662	0.58937	0.61282	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8270	305483	11	66300463	G	A	314744	Benign	Bardet-Biedl_syndrome	.	.	0.38459	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8271	259168	11	66331458	A	G	254263	Benign	Seizures|Ceroid_lipofuscinosis,_neuronal,_13|n...	0.62656	0.53003	0.58906	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8272	259172	11	66333598	C	T	254267	Benign	Seizures|Ceroid_lipofuscinosis,_neuronal,_13|n...	0.62656	0.53077	0.58886	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8273	259169	11	66335548	A	G	254270	Benign	Seizures|Ceroid_lipofuscinosis,_neuronal,_13|n...	.	.	0.58267	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8274	259166	11	66335832	G	A	254271	Benign	Seizures|Ceroid_lipofuscinosis,_neuronal,_13|n...	.	0.48936	0.20787	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8275	285565	11	66472274	T	C	269802	Benign	not_specified	0.98815	0.99688	0.98782	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8276	262579	11	67223920	CA	GC	254272	Conflicting_interpretations_of_pathogenicity	not_specified|Congenital_Stationary_Night_Blin...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8277	305671	11	67227006	G	A	328807	Benign	Congenital_Stationary_Night_Blindness,_Recessive	.	.	0.28075	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8278	259205	11	67257823	C	A	254275	Benign	Hereditary_cancer-predisposing_syndrome|not_sp...	0.83426	0.95496	0.84545	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8279	4893	11	67258382	G	A	19932	Conflicting_interpretations_of_pathogenicity	Dopamine_agonist_response|Hereditary_cancer-pr...	.	0.00146	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8280	259206	11	67258391	A	G	254276	Benign	Hereditary_cancer-predisposing_syndrome|not_sp...	0.99977	0.99991	0.9994	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8281	683144	11	67374156	A	G	665148	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8282	683175	11	67377562	G	A	665159	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8283	683178	11	67378229	T	G	666146	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8284	305765	11	67800494	T	G	328891	Benign	Leigh_syndrome|Mitochondrial_complex_I_deficiency	0.9749	.	0.96865	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8285	235762	11	67807143	A	AC	237442	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8286	235422	11	67813930	A	G	237106	Benign	not_provided	.	.	0.81969	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8287	235632	11	67814979	G	C	237313	Benign	not_specified|not_provided	0.97498	0.99275	0.96985	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8288	258634	11	68171013	T	C	254279	Benign	not_specified	0.81537	0.90006	0.84145	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8289	258638	11	68192690	G	A	254283	Benign	not_specified	0.52649	0.67548	0.57927	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8290	673761	11	68529358	C	T	666162	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8291	673760	11	68529378	C	G	665170	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8292	673759	11	68529410	G	GA	665790	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8293	678064	11	68549019	T	C	666165	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8294	166951	11	68549340	A	G	177647	Benign	not_specified	0.912	0.9313	0.89257	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8295	93975	11	68566839	G	A	99877	Benign	not_specified	.	0.9375	0.90355	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8296	678470	11	68571777	G	A	666006	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8297	668907	11	68671104	A	G	665799	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8298	258575	11	68671477	T	C	254288	Benign	Spinal_muscular_atrophy|Spinal_muscular_atroph...	0.78761	0.75895	0.67512	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8299	668744	11	68673269	A	T	665800	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8300	681863	11	68675512	G	C	665171	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8301	668908	11	68678634	C	T	666009	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8302	681878	11	68678718	G	T	665811	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8303	258576	11	68678962	T	C	254293	Benign	Spinal_muscular_atrophy|Spinal_muscular_atroph...	0.77857	0.77189	0.68051	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8304	681884	11	68701118	C	T	665186	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8305	681886	11	68702632	C	T	665187	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8306	258566	11	68703959	A	G	254303	Benign	Spinal_muscular_atrophy|Spinal_muscular_atroph...	0.24677	0.29883	0.24621	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8307	258570	11	68704264	C	T	254306	Benign	Spinal_muscular_atrophy|Spinal_muscular_atroph...	0.24761	0.29885	0.24621	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8308	681879	11	68705504	G	T	666016	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8309	194368	11	68705674	C	A	191531	Benign	Spinal_muscular_atrophy|Spinal_muscular_atroph...	0.21012	.	0.19709	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8310	637890	11	68705876	G	A	625259	Benign	not_specified	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8311	681881	11	68705936	T	G	666017	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8312	681882	11	68706759	C	T	665189	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8313	681883	11	68706848	G	A	665823	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8314	305868	11	68707454	T	C	321822	Benign	Spinal_muscular_atrophy	.	.	0.67093	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8315	305872	11	68707626	C	T	315023	Benign	Spinal_muscular_atrophy	.	.	0.19669	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8316	727	11	68846399	A	T	15766	association	Skin/hair/eye_pigmentation,_variation_in,_10	.	.	0.09964	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8317	13755	11	69462910	G	A	28794	risk_factor	VON_HIPPEL-LINDAU_SYNDROME,_MODIFIER_OF|Colore...	0.38674	0.45513	0.41354	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8318	305881	11	70314597	T	A	327887	Likely_benign	Autism_spectrum_disorder	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8319	305889	11	70316391	A	G	315045	Likely_benign	Autism_spectrum_disorder	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8320	305931	11	70935766	T	C	321887	Likely_benign	Autism_spectrum_disorder	.	.	0.74681	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8321	305936	11	71145687	T	C	315071	Benign	Smith-Lemli-Opitz_syndrome	.	.	0.77356	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8322	305940	11	71145778	G	A	329056	Benign	Smith-Lemli-Opitz_syndrome	.	.	0.74361	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8323	305949	11	71146302	C	T	329073	Uncertain_significance	Smith-Lemli-Opitz_syndrome	.	.	0.00439	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8324	93707	11	71146691	A	G	99610	Benign	Smith-Lemli-Opitz_syndrome|History_of_neurodev...	0.87119	0.85312	0.75639	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8325	673331	11	71150217	C	T	665829	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8326	679282	11	71150296	C	T	666173	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8327	93719	11	71152461	A	G	99622	Benign	Smith-Lemli-Opitz_syndrome|History_of_neurodev...	0.90999	.	0.80731	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8328	679281	11	71154820	G	A	665194	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8329	93715	11	71155153	A	G	99618	Benign	Smith-Lemli-Opitz_syndrome|History_of_neurodev...	0.91292	0.8755	0.8101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8330	93713	11	71155171	C	T	99616	Benign/Likely_benign	Smith-Lemli-Opitz_syndrome|History_of_neurodev...	0.62691	0.57185	0.40096	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8331	667656	11	71155641	A	G	666175	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8332	305969	11	71159429	G	A	327973	Likely_benign	Smith-Lemli-Opitz_syndrome	.	.	0.35344	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8333	683470	11	72118827	C	A	665207	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8334	306034	11	74166278	G	A	315142	Likely_benign	Brugada_syndrome	.	.	0.59605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8335	306035	11	74166320	T	G	329246	Likely_benign	Brugada_syndrome	.	.	0.42472	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8336	306045	11	74166859	A	G	328028	Likely_benign	Brugada_syndrome	.	.	0.59565	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8337	306046	11	74166866	G	A	321937	Likely_benign	Brugada_syndrome	.	.	0.56709	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8338	306063	11	74167374	C	CAAAA	329302	Uncertain_significance	Brugada_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8339	306066	11	74167409	T	C	328059	Likely_benign	Brugada_syndrome	.	.	0.56669	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8340	5541	11	74168361	C	T	20580	Conflicting_interpretations_of_pathogenicity	Ventricular_fibrillation|Syncope|Cardiomyopath...	.	0.00297	0.001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8341	683555	11	74168982	T	C	666203	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8342	195141	11	75277628	A	G	192302	Benign	not_specified|Osteogenesis_Imperfecta,_Recessive	0.91301	0.89952	0.88998	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8343	306105	11	75277992	C	T	315181	Benign	not_specified|Osteogenesis_Imperfecta,_Recessive	0.4257	0.43999	0.29932	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8344	667595	11	75279539	C	T	666211	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8345	667596	11	75280478	T	A	666214	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8346	306115	11	75283253	A	G	328131	Benign	Osteogenesis_Imperfecta,_Recessive	.	.	0.2478	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8347	259225	11	76827360	A	G	254323	Benign	not_specified	0.31824	0.31375	0.35543	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8348	43258	11	76853783	T	C	52428	Benign	Usher_syndrome,_type_1|Retinitis_pigmentosa-de...	0.46859	.	0.51358	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8349	43343	11	76868372	T	C	52513	Benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.47559	.	0.47404	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8350	680660	11	76869774	C	G	665243	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8351	678821	11	76870634	T	C	666050	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8352	680661	11	76872414	C	G	666223	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8353	670353	11	76873620	T	C	666240	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8354	680664	11	76874296	A	G	666056	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8355	678822	11	76876976	G	GT	665244	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8356	680662	11	76877491	T	C	666061	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8357	678823	11	76884122	A	T	666242	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8358	255661	11	76885779	G	A	254327	Benign	not_specified|not_provided	0.52803	0.5432	0.48562	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8359	678824	11	76886718	G	A	666248	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8360	670355	11	76890242	T	C	666255	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8361	678825	11	76890400	T	C	666068	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8362	680663	11	76890444	A	G	665245	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8363	678826	11	76891585	G	A	666070	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8364	678827	11	76891661	A	G	665840	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8365	670356	11	76892368	C	G	666071	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8366	670357	11	76892943	A	G	666073	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8367	678829	11	76893401	G	A	666262	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8368	255662	11	76894235	G	C	254328	Benign	not_specified|not_provided	0.61907	.	0.55511	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8369	680668	11	76900078	G	A	665847	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8370	678830	11	76900267	G	A	665248	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8371	670359	11	76901273	C	T	666076	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8372	678831	11	76901623	T	TGCTGGGGCCTGGAGC	666267	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8373	670360	11	76901648	C	G	665848	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8374	43226	11	76901927	C	T	52396	Benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.48553	0.53761	0.46845	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8375	670361	11	76902024	G	A	665852	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8376	678832	11	76902853	A	G	666272	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8377	678833	11	76902927	C	T	666078	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8378	670377	11	76903003	C	G	665250	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8379	255663	11	76905604	G	T	254329	Benign	not_specified|not_provided	0.58157	0.56449	0.54533	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8380	670379	11	76905725	C	T	665252	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8381	673900	11	76908319	C	G	665854	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8382	673901	11	76908324	A	G	665856	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8383	673902	11	76908976	C	A	666274	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8384	680669	11	76910319	C	T	665258	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8385	43257	11	76910766	C	T	52427	Benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.45732	0.50829	0.43251	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8386	43269	11	76912636	A	T	52439	Benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.58911	0.54399	0.55172	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8387	678835	11	76913098	T	C	665861	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8388	670381	11	76915436	C	G	665872	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8389	678838	11	76916424	A	G	665262	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8390	670382	11	76916967	A	G	665877	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8391	43296	11	76917220	A	G	52466	Benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.55373	0.52321	0.55491	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8392	680670	11	76918072	G	C	665878	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8393	43297	11	76918322	T	C	52467	Benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.63295	0.63298	0.59345	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8394	255664	11	76918497	G	A	254330	Benign	not_specified|not_provided	0.57457	0.53913	0.51298	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8395	43303	11	76919468	A	T	52473	Benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.55965	0.5675	0.51298	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8396	43304	11	76919478	C	A	52474	Benign	Deafness,_autosomal_recessive_2|Retinitis_pigm...	0.54921	.	0.499	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8397	674387	11	76919619	G	A	666080	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8398	674388	11	76919629	C	T	665881	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8399	43315	11	76919865	T	A	52485	Benign	not_specified	0.56479	0.54452	0.51298	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8400	678839	11	76920003	T	C	665263	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8401	678840	11	76920038	T	G	666083	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8402	678841	11	76920082	C	G	666087	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8403	680671	11	76920111	G	A	666279	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8404	43323	11	76922868	C	T	52493	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.03163	0.02673	0.01597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8405	43324	11	76922946	G	A	52494	Benign/Likely_benign	Retinitis_pigmentosa-deafness_syndrome|not_spe...	0.24683	0.18056	0.19569	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8406	255665	11	76924130	A	T	254331	Benign	not_specified|not_provided	0.87256	0.90448	0.80771	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8407	43332	11	76925040	G	A	52502	Benign	not_specified	0.18837	0.20005	0.11102	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8408	670385	11	76925075	G	T	665884	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8409	680675	11	76925395	T	C	666287	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8410	306210	11	76926245	C	T	315259	Likely_benign	Retinitis_pigmentosa-deafness_syndrome|Nonsynd...	.	.	0.03395	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8411	96088	11	77811990	T	C	101982	Benign	Congenital_disorder_of_glycosylation|Congenita...	0.88039	0.83191	0.83267	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8412	261683	11	77820670	T	C	254333	Benign	not_specified	0.22874	0.19526	0.25859	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8413	261684	11	77820673	T	C	254334	Benign	not_specified	0.22897	0.19471	0.25839	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8414	261682	11	77825064	A	G	254335	Benign	not_specified	0.22436	0.22537	0.25879	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8415	96092	11	77825320	T	C	101986	Benign/Likely_benign	Congenital_disorder_of_glycosylation|Congenita...	0.17653	0.19908	0.14637	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8416	261680	11	77832076	T	A	254337	Benign	not_specified	0.99992	0.99999	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8417	667638	11	78204406	C	T	665895	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8418	682659	11	78204561	A	G	666301	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8419	682658	11	78270304	A	G	665276	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8420	380001	11	78277277	A	G	371732	Benign	not_specified	0.73417	0.71624	0.65056	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8421	380000	11	78279790	T	G	372457	Benign	Combined_oxidative_phosphorylation_deficiency_...	0.79071	0.73817	0.71006	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8422	682656	11	78285096	T	G	666099	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8423	379999	11	78285875	A	T	372729	Benign	not_specified	.	.	0.60843	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8424	671602	11	85339344	C	T	666324	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8425	684192	11	85339380	T	A	666328	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8426	671603	11	85340591	C	T	666122	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8427	671604	11	85342959	T	C	665901	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8428	215269	11	85359094	A	AGACC	211570	Benign	not_specified|Optic_Atrophy,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8429	676442	11	85366516	C	G	666342	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8430	262022	11	85366762	A	G	254360	Benign	not_specified|Optic_Atrophy,_Recessive|not_pro...	0.25608	0.28538	0.376	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8431	403297	11	85692181	A	C	390064	Benign	not_specified	0.60328	.	0.6228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8432	403298	11	85718641	T	C	390024	Benign	not_specified	0.16913	.	0.23203	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8433	403299	11	85725937	C	T	390092	Benign	not_specified	0.8341	0.78612	0.78874	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8434	306335	11	86657520	A	G	328331	Benign	Familial_exudative_vitreoretinopathy	.	.	0.50998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8435	306350	11	86658243	TCAAACAAA	TCAAA,T	315395	Uncertain_significance	Familial_exudative_vitreoretinopathy	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8436	306365	11	86659213	A	G	315414	Benign	Familial_exudative_vitreoretinopathy	.	.	0.19309	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8437	306385	11	86660886	G	A	315440	Benign	Familial_exudative_vitreoretinopathy	.	.	0.70367	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8438	258191	11	88033661	A	G	254362	Benign	not_specified	0.86529	.	0.93011	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8439	402572	11	88045583	A	G	389960	Benign	not_specified	0.86408	0.88608	0.93091	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8440	3783	11	88910923	C	A	18822	Benign	Tyrosinase-negative_oculocutaneous_albinism|no...	.	.	0.1859	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8441	3779	11	89017961	G	A	18818	Conflicting_interpretations_of_pathogenicity	Albinism|Abnormality_of_metabolism/homeostasis...	.	0.17697	0.08127	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8442	3777	11	89017973	C	T	18816	Pathogenic/Likely_pathogenic	Inborn_genetic_diseases|Oculocutaneous_albinis...	0.00362	0.00349	0.002	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8443	518245	11	93527219	T	C	508868	Benign	Microcephaly,_postnatal_progressive,_with_seiz...	0.93991	.	0.93311	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8444	129597	11	93529655	G	A	135043	Benign	Microcephaly,_postnatal_progressive,_with_seiz...	0.10979	0.11853	0.11322	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8445	306450	11	94150790	T	C	315480	Benign	Ataxia-telangiectasia-like_disorder_1	.	.	0.23423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8446	193884	11	94197260	A	G	191047	Benign	Ataxia-telangiectasia-like_disorder_1|not_spec...	0.35213	0.37831	0.38878	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8447	129623	11	94212048	C	T	135069	Benign	Ataxia-telangiectasia-like_disorder_1|not_spec...	0.26958	0.32523	0.3131	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8448	259798	11	94225920	C	T	254368	Benign	not_specified	0.41014	.	0.45727	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8449	403103	11	94231257	C	G	390028	Benign	not_specified	0.58978	0.54109	0.54752	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8450	802713	11	95564259	A	G	791184	Benign	Mosaic_variegated_aneuploidy_syndrome_2	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8451	306505	11	95566502	C	T	329846	Likely_benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.02017	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8452	306506	11	95566520	A	G	315510	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.20347	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8453	306511	11	95566886	G	A	315515	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.20248	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8454	306514	11	95567035	C	T	328558	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.20347	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8455	306527	11	95567905	C	T	328580	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.20208	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8456	683220	11	95568757	C	A	665290	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8457	683218	11	95569183	G	A	666350	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8458	683219	11	95569253	A	C	665292	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8459	668751	11	95570961	G	A	665907	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8460	683217	11	95577929	T	C	666355	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8461	260685	11	95580926	G	A	254369	Benign	Charcot-Marie-Tooth_disease,_type_4B1|Charcot-...	0.29805	0.29799	0.20927	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8462	683215	11	95583995	A	G	665294	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8463	684384	11	95594831	A	G	665928	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8464	673447	11	95595694	T	C	666372	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8465	683213	11	95598629	A	G	666132	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8466	260686	11	95657111	T	G	254370	Benign	Charcot-Marie-Tooth_disease,_type_4B1|Charcot-...	0.23982	.	0.21286	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8467	768471	11	99690428	T	G	702050	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8468	301884	11	101322975	C	CTAAA	312031	Benign	Focal_segmental_glomerulosclerosis	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8469	162146	11	102470256	A	G	171859	not_provided	not_provided	.	.	0.1266	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8470	259539	11	102495998	T	G	253985	Benign	not_specified|Amelogenesis_Imperfecta,_Recessive	0.63742	.	0.67652	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8471	403099	11	102593248	T	C	389935	Benign	not_specified	0.55345	0.54235	0.60004	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8472	403100	11	102595492	G	A	389939	Benign	not_specified	0.62265	0.59715	0.65435	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8473	403092	11	102666316	T	C	389957	Benign	not_specified	0.95863	0.93036	0.93131	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8474	403093	11	102668022	C	T	389961	Benign	not_specified	0.08313	0.05837	0.07228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8475	802715	11	102668603	CA	CAA,C	791023	Benign	Preterm_premature_rupture_of_membranes	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8476	667691	11	103004929	C	G	665391	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8477	302018	11	103006557	G	A	312103	Benign/Likely_benign	Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_...	0.03227	0.04314	0.04153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8478	667693	11	103019633	A	G	665389	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8479	667694	11	103023735	A	T	664787	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8480	669444	11	103024489	G	T	665661	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8481	669446	11	103025666	A	C	665396	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8482	196009	11	103029516	A	G	193170	Benign	Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_...	0.67208	0.71263	0.66833	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8483	379420	11	103036743	C	G	371669	Benign	not_specified|not_provided	0.02197	0.02095	0.01458	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8484	302040	11	103039680	T	C	312117	Conflicting_interpretations_of_pathogenicity	Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_...	0.00017	0.0003	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8485	667695	11	103041197	T	C	665407	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8486	667714	11	103042047	T	C	665664	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8487	674031	11	103043599	G	A	665409	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8488	167011	11	103047007	C	A	177681	Benign	Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_...	0.94462	0.91783	0.93131	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8489	667716	11	103050219	G	C	665665	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8490	302056	11	103057048	A	G	312136	Benign	Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_...	0.59755	.	0.57149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8491	667717	11	103057411	T	G	665411	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8492	93529	11	103058126	C	T	99434	Benign	Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_...	0.64377	0.63296	0.61701	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8493	667718	11	103059091	A	G	664814	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8494	667719	11	103061960	G	C	665461	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8495	667720	11	103068444	G	A	664817	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8496	669450	11	103068941	G	A	665687	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8497	669451	11	103070545	A	G	665422	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8498	667721	11	103074639	C	A	665425	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8499	667722	11	103074658	A	G	665434	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8500	667723	11	103075233	T	A	664819	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8501	302073	11	103082590	G	A	317856	Benign	Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_...	0.75444	0.78735	0.73842	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8502	667724	11	103086725	C	G	665690	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8503	667725	11	103090472	A	C	665696	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8504	667726	11	103090885	G	A	665699	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8505	667727	11	103090972	A	T	664820	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8506	667728	11	103092572	G	A	665700	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8507	667746	11	103093490	A	T	665468	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8508	667747	11	103094140	C	G	665441	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8509	667748	11	103101868	G	C	665473	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8510	669452	11	103102327	A	ATAT	665444	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8511	667751	11	103116366	C	T	665477	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8512	93527	11	103123999	G	T	99432	Benign	Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_...	0.38754	0.37645	0.42931	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8513	667752	11	103124328	T	C	665467	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8514	669456	11	103150870	G	T	665475	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8515	667755	11	103151437	C	T	665720	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8516	669457	11	103152598	G	A	665481	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8517	667756	11	103158542	A	C	665486	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8518	669922	11	103173558	G	A	665488	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8519	667759	11	103178820	G	A	665491	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8520	669923	11	103182320	A	G	665726	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8521	93528	11	103182774	C	A	99433	Benign	Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_...	0.1235	.	0.13359	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8522	667776	11	103183045	T	G	665730	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8523	667786	11	103192089	G	C	664847	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8524	667788	11	103194949	T	C	665747	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8525	302117	11	103229027	T	C	317899	Benign	Short_Rib_Polydactyly_Syndrome|Jeune_thoracic_...	0.55842	0.65891	0.49501	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8526	667790	11	103229238	G	A	665754	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8527	669930	11	103229274	T	C	664854	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8528	667808	11	103229313	T	A	664858	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8529	226013	11	103418158	A	G	227832	drug_response	Platinum_compounds_response_-_Toxicity/ADR|eto...	.	.	0.4371	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8530	402491	11	104761100	T	C	389897	Benign	not_specified	.	0.99939	0.9976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8531	2171	11	104763117	G	A	17210	Likely_benign	Sepsis,_susceptibility_to|not_specified	.	0.98562	0.94848	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8532	632624	11	108012510	A	AAAGT	621797	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8533	302240	11	108093833	G	A	318028	Benign	Ataxia-telangiectasia_syndrome|not_provided	.	.	0.47604	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8534	181847	11	108121410	C	CT,CTT	180398	Benign/Likely_benign	Hereditary_cancer-predisposing_syndrome	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8535	439418	11	108143182	C	T	433369	Benign	Ataxia-telangiectasia_syndrome	.	.	0.65256	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8536	181857	11	108150207	CT	C	180439	Benign/Likely_benign	Ataxia-telangiectasia_syndrome|Hereditary_canc...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8537	181858	11	108151707	T	TA	180443	Benign/Likely_benign	Ataxia-telangiectasia_syndrome|Hereditary_canc...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8538	489536	11	108152582	C	T	482779	Benign	Hereditary_cancer-predisposing_syndrome	.	.	0.51158	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8539	516633	11	108158134	T	C	503053	Benign	not_specified|not_provided	.	.	0.51178	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8540	128458	11	108175462	G	A	133907	Benign/Likely_benign	Ataxia-telangiectasia_syndrome|Hereditary_canc...	0.10232	0.11014	0.06689	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8541	133627	11	108183167	A	G	137366	Benign	not_specified|not_provided	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8542	632649	11	108196509	G	C	621801	Benign	not_specified	.	.	0.53494	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8543	633055	11	108196712	CATT	C	621803	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8544	302265	11	108236783	G	T	324952	Benign	Ataxia-telangiectasia_syndrome	.	.	0.51837	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8545	302272	11	108237839	C	T	324093	Benign	Ataxia-telangiectasia_syndrome	.	.	0.51817	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8546	302285	11	108238939	A	AT	312262	Uncertain_significance	Ataxia-telangiectasia_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8547	302299	11	108239628	G	T	324138	Benign	Ataxia-telangiectasia_syndrome	.	.	0.53455	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8548	225942	11	108283161	C	A	227817	drug_response	metformin_response_-_Efficacy	.	.	0.46845	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8549	302333	11	110101670	GA	G	318158	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8550	302379	11	111654620	CTATAT	C	318212	Likely_benign	Congenital_disorder_of_glycosylation	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8551	302382	11	111654641	GT	G	325030	Uncertain_significance	Congenital_disorder_of_glycosylation	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8552	302385	11	111654648	T	A	324294	Uncertain_significance	Congenital_disorder_of_glycosylation	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8553	672477	11	111780837	G	A	665558	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8554	44234	11	111781047	A	C	53401	Benign	Posterior_polar_cataract|Alpha-B_crystallinopa...	0.27239	.	0.23982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8555	680264	11	111782697	G	C	665554	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8556	683732	11	111914449	G	A	665556	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8557	44648	11	111966307	T	C	53815	Benign	Pheochromocytoma|not_specified	.	.	0.9361	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8558	198436	11	113283459	G	A	195597	Benign/Likely_benign	not_specified	0.40888	0.41577	0.24401	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8559	256814	11	113283477	A	G	253992	Benign	not_specified	0.59628	0.64111	0.52656	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8560	256813	11	113283484	G	C	253993	Benign	Dystonia|not_specified	0.01693	0.02641	0.03175	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8561	225963	11	113346351	T	C	227820	drug_response	not_specified|risperidone_response_-_Efficacy	.	.	0.11901	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8562	508109	11	113561054	A	G	503143	Benign	not_specified	0.73615	0.6959	0.77017	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8563	508108	11	113561057	A	G	504043	Benign	not_specified	0.7348	0.69614	0.77017	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8564	508146	11	113565322	C	A	503152	Benign	not_specified	0.09732	0.09012	0.08946	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8565	508107	11	113570405	T	C	503712	Benign	not_specified	0.74213	0.73157	0.77077	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8566	508106	11	113570852	C	T	503716	Benign	not_specified	0.20023	0.34307	0.21386	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8567	777860	11	113815354	T	G	701564	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8568	127141	11	116660686	G	A	132639	risk_factor	Hypertriglyceridemia,_susceptibility_to	.	.	0.8742	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8569	496495	11	116662331	G	T	487403	Benign	not_provided	0.10239	0.10972	0.09066	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8570	4403	11	116662407	G	C	19442	risk_factor	Hypertriglyceridemia,_susceptibility_to	.	.	0.05571	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8571	548114	11	116663707	G	A	538603	drug_response	lovastatin_response_-_Efficacy|atorvastatin_re...	.	.	0.83706	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8572	518235	11	116701535	T	C	508859	Benign	Hyperalphalipoproteinemia_2|not_provided	0.74065	0.6542	0.59705	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8573	260475	11	117252489	T	C	253998	Benign	not_specified	0.93593	0.91239	0.90136	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8574	260483	11	117266754	A	C	254004	Benign	not_specified	0.62783	0.55186	0.52736	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8575	260485	11	117267884	A	G	254006	Benign	not_specified	0.53386	0.48519	0.46326	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8576	260490	11	117282800	G	T	254011	Benign	not_specified	0.9646	0.9383	0.90835	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8577	302515	11	117690918	A	C	318307	Benign	Renal_Hypomagnesemia,_Dominant	.	.	0.19289	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8578	302546	11	117864047	A	G	318326	Benign	Inflammatory_bowel_disease|not_specified	0.50139	0.52734	0.51677	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8579	302554	11	117869670	A	G	318357	Benign	Inflammatory_bowel_disease|not_specified	0.72845	0.73814	0.8111	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8580	302580	11	117872086	G	A	318366	Benign	Inflammatory_bowel_disease	.	0.50202	0.5597	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8581	302584	11	118004463	C	T	324524	Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome	.	0.00787	0.002	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8582	302585	11	118004688	A	G	324528	Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome	.	0.6682	0.64078	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8583	302591	11	118004863	A	G	312473	Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome	.	0.2334	0.15955	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8584	302594	11	118005119	T	C	318395	Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome	.	0.23128	0.15735	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8585	302604	11	118005622	T	G	312477	Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome	.	0.23196	0.15934	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8586	302615	11	118006408	C	T	312485	Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome	.	0.43375	0.41973	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8587	302629	11	118006807	A	AGGGGGAGAAGC	312495	Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome	.	0.29127	0.28474	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8588	302635	11	118006957	C	T	318464	Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome	.	0.65817	0.61621	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8589	671916	11	118011776	G	A	665565	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8590	671915	11	118011805	C	T	665604	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8591	671914	11	118012164	G	A	665568	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8592	403419	11	118016068	C	T	389847	Benign	not_specified|not_provided	.	0.68198	0.6849	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8593	259446	11	118037813	G	T	254012	Benign	not_specified	0.43811	0.50219	0.51438	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8594	518236	11	118209960	A	C	508860	Benign	Severe_combined_immunodeficiency,_autosomal_re...	0.61407	0.67521	0.6258	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8595	302678	11	118215075	AGGCT	A	312525	Benign/Likely_benign	Immunodeficiency_due_to_defect_in_CD3-gamma|Se...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8596	474799	11	118221349	TG	CT	460944	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8597	302688	11	118224059	A	G	318503	Likely_benign	Immunodeficiency_due_to_defect_in_CD3-gamma	.	.	0.07208	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8598	302693	11	118224268	G	T	324614	Likely_benign	Immunodeficiency_due_to_defect_in_CD3-gamma	.	.	0.29772	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8599	768489	11	118529017	T	G	701599	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8600	377170	11	118533594	T	C	364048	Likely_benign	not_provided	0.00415	0.00714	0.0016	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8601	402412	11	118769442	A	G	389959	Benign	not_specified	0.4859	0.42462	0.44409	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8602	302701	11	118895495	C	G	318535	Benign	Glycogen_storage_disease,_type_I	.	.	0.28355	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8603	139192	11	118895686	C	T	142895	Benign	not_specified	0.25572	0.21875	0.2478	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8604	139190	11	118898319	G	A	142893	Benign	not_specified	0.11585	0.10566	0.07748	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8605	801370	11	118898435	AC	A	789809	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8606	779603	11	118900338	G	A	779515	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8607	302718	11	118901166	C	G	325405	Benign	Glycogen_storage_disease,_type_I	.	.	0.84964	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8608	255487	11	118959331	G	A	254014	Benign	Acute_intermittent_porphyria|not_specified	0.62517	0.55806	0.57288	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8609	255486	11	118962816	C	A	254016	Benign	Acute_intermittent_porphyria|not_specified	0.22633	.	0.3147	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8610	561493	11	119144402	A	G	552641	Benign	not_provided	.	.	0.98722	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8611	55796	11	119148573	G	T	70452	Benign	Noonan_syndrome-like_disorder_with_or_without_...	0.62458	0.60112	0.72863	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8612	302792	11	119170855	T	TGG	324752	Benign	Noonan-Like_Syndrome_Disorder	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8613	302818	11	119172536	A	G	312630	Benign	Noonan-Like_Syndrome_Disorder	.	.	0.21925	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8614	302829	11	119173587	C	G	325571	Likely_benign	Noonan-Like_Syndrome_Disorder	.	.	0.00739	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8615	302852	11	119175075	C	A	318699	Benign	Noonan-Like_Syndrome_Disorder	.	.	0.39677	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8616	302858	11	119175422	T	C	312665	Benign	Noonan-Like_Syndrome_Disorder	.	.	0.9994	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8617	302901	11	119177938	A	G	318734	Benign	Noonan-Like_Syndrome_Disorder	.	.	0.23243	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8618	302902	11	119178050	C	G	324826	Benign	Noonan-Like_Syndrome_Disorder	.	.	0.41214	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8619	198596	11	119215476	G	A	195757	Conflicting_interpretations_of_pathogenicity	Retinal_degeneration|Microphthalmia,_isolated_...	0.00216	0.00282	0.002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8620	167297	11	119216231	A	G	177837	Benign/Likely_benign	Retinal_degeneration|Microphthalmia,_isolated_...	0.9277	.	0.90196	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8621	143157	11	119216279	G	A	152875	Benign/Likely_benign	Retinal_degeneration|Microphthalmia,_isolated_...	0.22505	.	0.20148	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8622	167299	11	119216504	C	T	177134	Benign/Likely_benign	Retinal_degeneration|Microphthalmia,_isolated_...	0.24638	0.26636	0.18211	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8623	302982	11	119217254	C	T	325780	Likely_benign	Retinal_degeneration|Microphthalmia,_isolated_6	0.56729	0.59509	0.63558	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8624	302987	11	119217311	G	A	324926	Likely_benign	Retinal_degeneration|Microphthalmia,_isolated_6	.	.	0.58387	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8625	802808	11	119510644	A	C	791116	Benign	Cleft_lip/palate-ectodermal_dysplasia_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8626	225967	11	120663363	T	C	227821	drug_response	not_specified|antidepressants_response_-_Efficacy	.	.	0.5022	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8627	45315	11	120996292	A	G	54482	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Domin...	0.77069	0.71165	0.77217	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8628	45319	11	120998942	C	T	54486	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Domin...	0.25738	0.30875	0.3103	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8629	45323	11	121000784	T	C	54490	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Domin...	0.74631	0.7041	0.7514	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8630	45336	11	121032978	G	A	54503	Benign	Deafness,_autosomal_dominant_12|not_specified|...	0.99208	0.99267	0.99681	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8631	45338	11	121038810	C	T	54505	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Domin...	0.09882	0.16896	0.1853	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8632	303057	11	121178302	A	C	312876	Benign	Lathosterolosis	.	.	0.72464	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8633	303070	11	121179847	A	T	318905	Benign	Lathosterolosis	.	.	0.42213	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8634	303099	11	121181848	A	G	325089	Benign	Lathosterolosis	.	.	0.15695	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8635	303108	11	121183145	T	C	318954	Benign	Lathosterolosis	.	.	0.39337	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8636	671838	11	123504673	C	G	664951	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8637	670950	11	123504959	C	G	665579	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8638	671837	11	123505099	C	T	664953	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8639	261028	11	123513161	G	A	254022	Benign/Likely_benign	Brugada_syndrome|not_specified|Cardiovascular_...	0.09022	0.0896	0.08207	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8640	674316	11	123513512	G	A	664964	Likely_benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8641	768493	11	123894136	A	G	701641	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8642	303262	11	124747837	G	A	326080	Benign	Gaze_palsy,_familial_horizontal,_with_progress...	0.7288	0.67853	0.63199	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8643	303279	11	124750447	CCGGAGT	C	325249	Benign	Gaze_palsy,_familial_horizontal,_with_progress...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8644	303289	11	124789232	A	AAAAC	313075	Benign	Megalencephalic_leukoencephalopathy_with_subco...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8645	303295	11	124789755	T	C	326092	Benign	Megalencephalic_leukoencephalopathy_with_subco...	0.75481	0.73712	0.79892	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8646	303319	11	124790922	C	A	326109	Benign	Megalencephalic_leukoencephalopathy_with_subco...	.	.	0.1885	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8647	262682	11	124792627	G	A	254025	Benign	Megalencephalic_leukoencephalopathy_with_subco...	0.15392	0.10635	0.14297	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8648	262681	11	124793682	T	C	254026	Benign	Megalencephalic_leukoencephalopathy_with_subco...	0.75192	0.72861	0.79393	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8649	262680	11	124793716	G	A	254027	Benign	Megalencephalic_leukoencephalopathy_with_subco...	0.22262	.	0.13598	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8650	387269	11	125462830	A	G	372271	Likely_benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8651	380012	11	125465862	T	C	372052	Benign	not_specified	0.11569	0.0745	0.10463	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8652	380013	11	125465905	G	T	372273	Benign	not_specified	0.07546	0.05993	0.05831	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8653	380014	11	125476252	C	G	373936	Benign	not_specified	0.115	.	0.10363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8654	380015	11	125479363	G	A	372061	Benign	not_specified	0.41269	0.3694	0.41933	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8655	380031	11	125479496	C	T	373938	Benign	not_specified	0.28985	0.29628	0.30831	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8656	380016	11	125482650	G	A	373944	Benign	not_specified	0.07569	0.05981	0.05751	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8657	380017	11	125488404	C	T	372289	Benign	not_specified	0.12269	0.07629	0.11122	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8658	496139	11	125525195	A	G	487497	Benign	not_provided	0.97385	0.9726	0.98582	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8659	303347	11	125753589	C	T	319169	Benign	Hydrolethalus_syndrome	.	.	0.85443	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8660	303351	11	125761318	G	GTT	313115	Benign	Hydrolethalus_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8661	303368	11	125770425	A	C	319178	Benign	Hydrolethalus_syndrome	.	.	0.16913	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8662	368942	11	125826702	G	A	353171	Benign	Holoprosencephaly_sequence	.	.	0.4972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8663	303374	11	125826785	G	A	326221	Likely_benign	Holoprosencephaly_sequence	.	.	0.24022	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8664	303378	11	125826953	A	C	313133	Benign	Holoprosencephaly_sequence	.	.	0.27256	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8665	303379	11	125826975	C	A	325340	Likely_benign	Holoprosencephaly_sequence	.	.	0.03255	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8666	303397	11	125828007	T	C	326250	Benign	Holoprosencephaly_sequence	.	.	0.50559	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8667	303400	11	125828097	A	G	313146	Benign	Holoprosencephaly_sequence	.	.	0.51857	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8668	303450	11	125828904	T	C	325385	Benign	Holoprosencephaly_sequence	.	.	0.49501	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8669	303481	11	125830227	A	AT	326386	Uncertain_significance	Holoprosencephaly_sequence	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8670	303488	11	125830697	T	C	319273	Likely_benign	Holoprosencephaly_sequence	.	.	0.24241	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8671	260799	11	125830970	A	T	254031	Benign	Holoprosencephaly_sequence|Holoprosencephaly_1...	0.73	0.73099	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8672	260797	11	125831701	G	A	254033	Benign	Holoprosencephaly_sequence|not_specified	0.25308	.	0.24221	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8673	260793	11	125848261	C	T	254035	Benign	Holoprosencephaly_sequence|not_specified	0.35646	0.41429	0.39956	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8674	260792	11	125851055	A	G	254036	Benign	Holoprosencephaly_sequence|not_specified	0.334	0.25817	0.26817	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8675	260791	11	125851181	G	A	254037	Benign	Holoprosencephaly_sequence|not_specified	0.334	.	0.26757	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8676	260788	11	125864326	T	C	254040	Benign	not_specified	0.29446	0.32745	0.3121	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8677	260786	11	125867053	G	T	254042	Benign	not_specified	0.92085	.	0.94149	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8678	260784	11	125871735	C	T	254044	Benign	Holoprosencephaly_sequence|not_specified	0.34539	0.31269	0.30252	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8679	193724	11	125873968	C	G	190887	Conflicting_interpretations_of_pathogenicity	Holoprosencephaly_sequence|not_provided	0.00054	0.00062	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8680	303517	11	125875959	GGAGA	G	319328	Uncertain_significance	Holoprosencephaly_sequence	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8681	260794	11	125891103	C	CA	254054	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8682	95753	11	125891162	A	G	101650	Benign/Likely_benign	Holoprosencephaly_sequence|Holoprosencephaly_1...	0.04054	0.03712	0.02636	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8683	95752	11	125891269	C	T	101649	Benign	Holoprosencephaly_sequence|not_specified	0.64515	0.55732	0.57228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8684	303532	11	126139100	T	C	313196	Benign	Mitochondrial_complex_I_deficiency|not_provided	0.69488	0.78907	0.78614	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8685	678089	11	126141134	A	AAAGG	665832	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8686	303547	11	126147697	G	A	313203	Likely_benign	Mitochondrial_complex_I_deficiency	.	.	0.13139	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8687	257673	11	126277216	C	T	254057	Benign	not_specified	0.31936	0.31618	0.34625	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8688	257674	11	126278075	C	T	254058	Benign	not_specified	0.31759	0.31395	0.34485	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8689	129425	11	126294817	G	A	134871	Likely_benign	not_specified	0.66483	0.67128	0.70367	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8690	129427	11	126391297	T	G	134873	Likely_benign	not_specified	0.27995	0.27042	0.22484	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8691	303553	11	128707975	G	C	325499	Benign	Antenatal_Bartter_Syndrome	.	.	0.16434	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8692	303554	11	128708009	G	A	313219	Benign	Antenatal_Bartter_Syndrome	.	.	0.15735	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8693	303556	11	128708344	T	C	313220	Benign	Antenatal_Bartter_Syndrome	.	.	0.16653	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8694	303561	11	128708518	C	CTTG	313240	Benign	Antenatal_Bartter_Syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8695	303567	11	128708947	T	A	326461	Benign	Antenatal_Bartter_Syndrome	.	.	0.16653	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8696	137990	11	128781339	T	C	141693	Benign	Romano-Ward_syndrome|Familial_hyperaldosteroni...	0.84826	0.84356	0.86981	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8697	137991	11	128781978	T	G	141694	Benign	Romano-Ward_syndrome|Familial_hyperaldosteroni...	0.84272	0.84144	0.86621	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8698	137992	11	128782002	T	C	141695	Benign	Romano-Ward_syndrome|Familial_hyperaldosteroni...	0.84395	0.84159	0.86701	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8699	137993	11	128782012	C	G	141696	Benign	Romano-Ward_syndrome|Familial_hyperaldosteroni...	0.98707	0.98648	0.99501	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8700	672206	11	128782214	G	A	665653	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8701	137995	11	128786294	G	A	141698	Benign	Romano-Ward_syndrome|Familial_hyperaldosteroni...	0.74785	0.7346	0.73582	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8702	303640	11	128787001	T	TC	325560	Benign	Romano-Ward_syndrome|Familial_hyperaldosteronism	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8703	303641	11	128787036	C	T	313305	Benign	Romano-Ward_syndrome|Familial_hyperaldosteronism	.	.	0.8752	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8704	303648	11	128787405	G	T	313312	Benign	Romano-Ward_syndrome|Familial_hyperaldosteronism	.	.	0.15595	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8705	303649	11	128787430	G	T	325562	Benign	Romano-Ward_syndrome|Familial_hyperaldosteronism	.	.	0.73542	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8706	303652	11	128787554	C	T	326565	Benign	Romano-Ward_syndrome|Familial_hyperaldosteronism	.	.	0.85423	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8707	303660	11	128787689	G	A	326575	Benign	Romano-Ward_syndrome|Familial_hyperaldosteronism	.	.	0.68231	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8708	303668	11	128787963	AC	A	319444	Benign	Romano-Ward_syndrome|Familial_hyperaldosteronism	.	.	0.73982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8709	776679	11	129801022	T	C	701660	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8710	518237	11	130064647	G	A	508861	Benign	Ichthyosis,_congenital,_autosomal_recessive_11	0.77047	0.84327	0.83287	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8711	518238	11	130066335	C	T	508862	Benign	Ichthyosis,_congenital,_autosomal_recessive_11	0.56865	0.69045	0.63898	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8712	310533	12	862641	T	G	318492	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.33986	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8713	261069	12	862989	T	C	254719	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.9724	0.99239	0.97564	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8714	137927	12	863152	G	A	141630	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.0802	0.16333	0.07448	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8715	670589	12	863517	G	A	666857	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8716	670590	12	936468	C	G	666860	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8717	681290	12	938910	T	A	667225	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8718	261066	12	939302	A	G	254728	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.68553	0.74509	0.69349	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8719	670303	12	966097	A	G	667226	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8720	670304	12	966124	T	C	666864	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8721	137922	12	968400	C	A	141625	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.11368	0.14923	0.09345	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8722	137923	12	968489	T	C	141626	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.11543	0.14876	0.09345	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8723	261067	12	987482	G	A	254731	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.67953	.	0.67951	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8724	218533	12	987533	C	CT	215458	Benign	not_specified|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8725	538531	12	988558	C	T	527667	Benign	Pseudohypoaldosteronism_type_2C|Hereditary_sen...	.	.	0.52895	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8726	137926	12	994014	C	T	141629	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.1118	0.15542	0.11582	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8727	261072	12	994487	G	C	254767	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.98608	0.99634	0.98682	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8728	670309	12	996205	A	T	666189	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8729	670310	12	999762	A	G	666984	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8730	670311	12	1003978	T	C	666998	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8731	261074	12	1017197	C	T	254769	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.98616	0.99643	0.98702	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8732	306711	12	1019944	G	A	333103	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.98722	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8733	306723	12	1020266	T	C	333107	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.11921	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8734	307801	12	1901392	T	TCTC	331332	Benign	Cone_dystrophy_3	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8735	307803	12	1901434	C	T	329967	Benign	Cone_dystrophy_3	.	.	0.374	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8736	307806	12	1901485	G	T	331342	Benign	Cone_dystrophy_3	.	.	0.3746	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8737	307811	12	1901618	CG	C	331346	Benign	Cone_dystrophy_3	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8738	307819	12	1902164	C	T	323961	Benign	Cone_dystrophy_3	.	.	0.3722	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8739	307828	12	1902766	T	G	331357	Benign	Cone_dystrophy_3	.	.	0.38399	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8740	262820	12	1995403	T	C	254464	Benign	Cone_dystrophy_3|not_specified	0.91647	.	0.9371	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8741	683258	12	2162369	G	A	665591	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8742	683259	12	2163032	G	A	666235	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8743	695132	12	2224063	C	G	685312	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8744	93412	12	2558186	G	A	99319	Benign	Brugada_syndrome|Timothy_syndrome|History_of_n...	0.1757	0.20737	0.12041	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8745	671977	12	2558475	G	A	666491	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8746	683261	12	2558567	T	C	665692	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8747	683274	12	2595011	A	C	666364	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8748	671970	12	2602179	G	A	665693	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8749	683275	12	2613329	A	G	666496	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8750	671783	12	2613521	A	G	665698	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8751	764556	12	2656887	T	G	775881	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8752	695133	12	2659044	TG	T	685328	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8753	764565	12	2659622	G	A	776028	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8754	764686	12	2659942	C	T	775962	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8755	764557	12	2660096	C	G	775888	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8756	671798	12	2666348	A	G	666499	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8757	683263	12	2666407	T	A	666380	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8758	671799	12	2676683	C	T	666393	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8759	683270	12	2677264	A	G	665735	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8760	671800	12	2690702	G	A	666510	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8761	695135	12	2691260	C	G	685335	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8762	670939	12	2692186	T	G	665737	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8763	671801	12	2706720	G	C	665749	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8764	794112	12	2750621	C	T	787803	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8765	764840	12	2751125	G	A	775834	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8766	683271	12	2757371	A	C	666773	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8767	671806	12	2757756	T	C	666775	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8768	671807	12	2757769	T	C	666531	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8769	671808	12	2757782	C	T	665763	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8770	676054	12	2757885	C	T	666413	Benign/Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8771	673265	12	2760508	G	A	666423	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8772	670958	12	2760708	G	A	666426	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8773	670940	12	2760970	G	A	665766	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8774	695136	12	2764001	G	A	685362	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8775	671809	12	2773855	G	A	666431	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8776	670934	12	2774668	C	A	665770	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8777	673266	12	2777768	A	G	666436	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8778	669624	12	2778504	G	GA	666783	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8779	671810	12	2783476	T	C	666785	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8780	671811	12	2783972	T	C	666786	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8781	93413	12	2788879	G	A	99320	Benign	Brugada_syndrome|Timothy_syndrome|History_of_n...	0.58112	0.69528	0.52636	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8782	136640	12	2791205	A	G	140343	Benign	not_specified	0.99981	0.9999	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8783	671813	12	2798151	G	A	666796	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8784	308169	12	2800649	C	T	330335	Benign	Brugada_syndrome|Timothy_syndrome|not_provided	.	.	0.88339	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8785	308174	12	2801016	C	CGCCGCCGGGAAGGG	330349	Benign	Brugada_syndrome|Timothy_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8786	308236	12	2804638	A	G	324323	Benign	Brugada_syndrome|Timothy_syndrome	.	.	0.94828	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8787	308251	12	2805196	T	A	330445	Benign	Brugada_syndrome|Timothy_syndrome	.	.	0.77117	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8788	308267	12	2806335	A	C	316806	Benign	Brugada_syndrome|Timothy_syndrome	.	.	0.96685	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8789	678294	12	4383036	C	T	656161	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8790	380772	12	4388084	C	G	375127	Benign	not_specified	0.32631	.	0.21985	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8791	308779	12	4478080	T	A	324849	Benign	Tumoral_calcinosis,_hyperphosphatemic,_familia...	.	.	0.20467	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8792	308803	12	4479549	G	A	330952	Benign	Tumoral_calcinosis,_hyperphosphatemic,_familia...	0.10534	0.12388	0.14736	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8793	138447	12	4768193	A	T	142150	Benign	not_specified|not_provided	0.27092	0.24629	0.22404	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8794	138448	12	4768354	A	C	142151	Benign	not_specified	0.63373	0.71857	0.70607	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8795	671789	12	4768511	A	G	666700	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8796	682711	12	4768577	G	A	666628	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8797	682712	12	4768619	A	G	666955	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8798	682713	12	4771431	A	G	666635	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8799	671790	12	4771456	G	A	665961	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8800	138449	12	4771682	G	A	142152	Benign	not_specified	0.36898	0.42513	0.34685	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8801	682714	12	4778627	A	G	666708	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8802	682725	12	4791673	A	G	666965	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8803	682728	12	4794733	A	G	666968	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8804	21130	12	5021348	G	C	33982	Benign	Episodic_ataxia|Myokymia|not_specified|not_pro...	0.50346	.	0.53335	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8805	129313	12	5021984	T	A	134759	Benign	Episodic_ataxia|Myokymia|Episodic_ataxia_type_...	0.7425	0.73852	0.82049	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8806	258594	12	5154462	T	C	254607	Benign/Likely_benign	Atrial_fibrillation,_familial,_7|Familial_atri...	0.9847	.	0.98103	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8807	309342	12	5155663	A	T	333135	Likely_benign	Familial_atrial_fibrillation	.	.	0.21905	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8808	440406	12	6058913	G	A	433116	Benign	not_specified	0.10526	0.07926	0.10004	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8809	440405	12	6058920	A	G	433117	Benign	not_specified	0.10595	0.07945	0.10104	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8810	256704	12	6060960	G	A	254648	Benign	not_specified	0.14017	0.13509	0.11681	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8811	256703	12	6061069	T	G	254649	Benign	not_specified	0.18622	0.19496	0.16234	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8812	256702	12	6061559	C	T	254650	Benign/Likely_benign	von_Willebrand_disorder|not_specified	0.0449	0.05934	0.04473	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8813	256696	12	6091000	A	G	254656	Benign/Likely_benign	von_Willebrand_disorder|not_specified	0.84392	0.86871	0.82508	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8814	256695	12	6091164	G	A	254657	Benign/Likely_benign	von_Willebrand_disorder|not_specified	0.24973	0.33541	0.30332	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8815	256693	12	6094845	G	A	254659	Benign/Likely_benign	von_Willebrand_disorder|not_specified	0.76711	.	0.70068	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8816	256688	12	6105387	G	A	254663	Benign/Likely_benign	von_Willebrand_disorder|not_specified	0.35607	0.45766	0.45607	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8817	256661	12	6145529	G	A	254687	Benign	not_specified	0.69722	0.7029	0.7532	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8818	256658	12	6153659	G	T	254690	Benign	not_specified	0.46393	.	0.53075	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8819	256657	12	6161963	G	GAGA	254691	Benign/Likely_benign	von_Willebrand_disorder|not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8820	256654	12	6172202	T	C	254694	Benign/Likely_benign	von_Willebrand_disorder|not_specified	0.50861	.	0.51877	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8821	619927	12	6234889	C	T	611318	Benign	not_provided	.	.	0.44369	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8822	37038	12	6440009	T	C	45724	Benign/Likely_benign	Multiple_sclerosis,_susceptibility_to,_5|not_s...	0.38759	0.36212	0.29972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8823	257326	12	6450945	T	C	254705	Benign/Likely_benign	not_specified|Familial_Periodic_Fever	0.40412	0.3755	0.30152	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8824	675609	12	6451590	A	C	667205	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8825	165164	12	6457062	T	C	175889	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	0.76286	.	0.74062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8826	165165	12	6464581	C	T	175749	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	0.1763	0.08987	0.19229	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8827	402517	12	6560473	A	G	390154	Benign	not_specified	0.9917	0.99261	0.9974	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8828	402518	12	6560573	G	T	390068	Benign	not_specified	0.40964	.	0.36002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8829	675808	12	6954624	G	A	667211	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8830	226004	12	6954875	C	T	227813	drug_response	sildenafil_response_-_Efficacy|not_provided	0.44979	0.35977	0.49221	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8831	310372	12	6980075	G	GA	326542	Uncertain_significance	Triosephosphate_isomerase_deficiency	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8832	310415	12	7342636	T	A	318422	Likely_benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.03654	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8833	310452	12	7363574	C	G	334493	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.43211	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8834	261353	12	8757481	G	A	254729	Benign	Immunodeficiency_with_hyper_IgM_type_2|not_spe...	0.54935	0.59043	0.48423	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8835	261352	12	8759445	C	T	254730	Benign	Immunodeficiency_with_hyper_IgM_type_2|not_spe...	0.54015	0.53233	0.63259	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8836	369029	12	8765447	T	C	353258	Benign	Immunodeficiency_with_Hyper-IgM	0.99496	.	0.99541	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8837	381191	12	8808006	T	C	375428	Benign	not_specified	0.40474	0.41653	0.42931	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8838	674904	12	8808222	C	T	667237	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8839	561550	12	8975605	A	G	552696	Benign	not_provided	.	.	0.35803	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8840	384687	12	8975901	C	T	372586	Benign	not_provided	0.04552	0.08918	0.13019	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8841	561804	12	8976764	A	G	552698	Benign	not_provided	.	.	0.61701	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8842	561805	12	8976780	T	C	552699	Benign	not_provided	.	.	0.36122	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8843	561806	12	8987550	T	C	552702	Benign	not_provided	.	.	0.90935	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8844	561551	12	8988403	A	C	552706	Benign	not_provided	.	.	0.94888	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8845	561807	12	8988542	C	G	552707	Benign	not_provided	.	.	0.94848	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8846	561539	12	8988777	A	G	552709	Benign	not_provided	.	.	0.84605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8847	561552	12	8989916	A	G	552711	Benign	not_provided	.	.	0.85344	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8848	561533	12	8990813	A	G	552713	Benign	not_provided	.	.	0.85643	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8849	561553	12	8991246	C	T	552714	Benign	not_provided	.	.	0.82648	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8850	561534	12	8991970	G	A	552716	Benign	not_provided	.	.	0.82688	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8851	561535	12	8991998	C	A	552717	Benign	not_provided	.	.	0.93291	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8852	561809	12	8992122	C	CT	552718	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8853	561810	12	8992130	TAGA	T	552719	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8854	561520	12	8994212	T	C	552720	Benign	not_provided	.	.	0.93431	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8855	561521	12	8995523	C	G	552722	Benign	not_provided	.	.	0.43211	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8856	383777	12	9004512	G	A	373491	Benign	not_provided	0.80782	0.87003	0.86821	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8857	561554	12	9004667	G	C	552737	Benign	not_provided	.	.	0.51637	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8858	561555	12	9007031	C	G	552739	Benign	not_provided	.	.	0.51378	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8859	561527	12	9008318	G	C	552742	Benign	not_provided	.	.	0.51298	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8860	561568	12	9013329	G	A	552747	Benign	not_provided	.	.	0.11621	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8861	384669	12	9013755	C	T	373500	Benign	Otitis_media,_susceptibility_to|not_provided	0.30165	0.43211	0.43231	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8862	561569	12	9016665	G	C	552752	Benign	not_provided	.	.	0.10004	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8863	384670	12	9020489	A	G	375466	Benign	not_provided	0.77746	0.85911	0.85264	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8864	384671	12	9020912	A	G	373525	Benign	not_provided	0.74648	0.73521	0.67772	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8865	561565	12	9021256	C	T	552762	Benign	not_provided	0.44466	0.41267	0.40455	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8866	561570	12	9021430	G	C	552764	Benign	not_provided	.	.	0.1893	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8867	561566	12	9021525	C	A	552765	Benign	not_provided	.	.	0.40435	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8868	211899	12	9083336	A	G	208005	Benign	not_specified	.	0.73354	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8869	769813	12	9317885	G	A	702542	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8870	590287	12	10251445	C	G	581228	risk_factor	Aspergillosis,_susceptibility_to	0.88582	0.76792	0.67053	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8871	402543	12	10271055	T	C	390101	Benign	not_specified	0.85983	0.74149	0.64058	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8872	307658	12	12870695	T	C	331119	Benign	Multiple_endocrine_neoplasia|Multiple_endocrin...	.	.	0.66174	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8873	307718	12	13714729	T	C	323803	Likely_benign	Intellectual_Disability,_Dominant	.	.	0.89137	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8874	307723	12	13715308	A	C	331211	Likely_benign	Intellectual_Disability,_Dominant	.	.	0.27496	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8875	129204	12	13716638	G	A	134650	Benign/Likely_benign	History_of_neurodevelopmental_disorder|not_spe...	0.40151	.	0.2476	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8876	676042	12	13720422	A	G	666226	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8877	681647	12	13723127	T	C	666625	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8878	129200	12	13764774	G	A	134646	Benign/Likely_benign	History_of_neurodevelopmental_disorder|Mental_...	0.2801	0.26466	0.1901	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8879	137516	12	13828659	T	C	141219	Benign	not_specified	0.15493	0.15766	0.10383	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8880	129205	12	14018777	G	C	134651	Benign/Likely_benign	History_of_neurodevelopmental_disorder|not_spe...	0.43103	.	0.44149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8881	402915	12	14781678	G	GA	390540	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8882	402916	12	14794062	G	A	390087	Benign	not_specified	0.81962	0.94109	0.82348	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8883	17730	12	14993439	C	T	32769	Affects	Blood_group,_Dombrock_system	.	0.34903	0.29273	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8884	307759	12	15034521	T	A	331251	Benign	Keutel_syndrome	.	.	0.32408	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8885	284369	12	15035081	T	C	268606	Benign	Keutel_syndrome|not_specified	0.43726	0.37996	0.38538	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8886	307773	12	15037187	T	TA	331322	Benign	Keutel_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8887	307776	12	15038788	C	T	323908	Benign	Keutel_syndrome	0.341	.	0.26218	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8888	307884	12	20966548	C	T	316532	Benign	Rotor_syndrome	.	.	0.69709	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8889	440287	12	20968665	GTTTA	G	433930	Benign	not_provided	.	0.21989	0.18411	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8890	261184	12	21011480	T	G	254467	Benign	Rotor_syndrome|not_specified	0.72293	0.80446	0.70248	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8891	261185	12	21013948	C	T	254468	Benign	Rotor_syndrome|not_specified	0.72224	0.80656	0.70228	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8892	261186	12	21015760	G	A	254469	Benign	Rotor_syndrome|not_specified	0.72282	0.80436	0.70248	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8893	810734	12	21017875	T	C	798983	Benign	Gilbert's_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8894	307896	12	21028208	G	C	316533	Benign/Likely_benign	Rotor_syndrome|not_specified	0.11433	0.11316	0.06569	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8895	261183	12	21036411	A	G	254470	Benign	Rotor_syndrome|not_specified	0.72305	0.80468	0.70288	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8896	440286	12	21054369	G	A	433929	Benign	not_specified	0.71236	0.81821	0.67871	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8897	810735	12	21074122	C	T	798984	Benign	Gilbert's_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8898	225995	12	21283322	G	A	227775	drug_response	pravastatin_response_-_Efficacy	.	.	0.05471	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8899	259983	12	21329738	A	G	254471	Conflicting_interpretations_of_pathogenicity	Gilbert's_syndrome|Rotor_syndrome|not_specifie...	0.52629	0.47949	0.6224	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8900	37346	12	21331549	T	C	40587	drug_response	simvastatin_acid_response_-_Metabolism/PK|Gilb...	0.11495	0.12943	0.08766	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8901	259985	12	21331625	C	T	254473	Benign	Rotor_syndrome|not_specified	0.44895	0.38514	0.41554	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8902	375656	12	21382619	T	C	362505	drug_response	methotrexate_response_-_Toxicity/ADR	.	.	0.21925	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8903	307959	12	21391976	A	C	331512	Likely_benign	Rotor_syndrome	0.05845	0.04632	0.04433	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8904	307967	12	21392562	T	G	324112	Benign	Rotor_syndrome	.	.	0.44768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8905	307969	12	21392586	A	G	331528	Benign	Rotor_syndrome	.	.	0.44848	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8906	679695	12	21624309	A	T	665596	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8907	679693	12	21626324	A	C	666651	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8908	679691	12	21626330	C	A	665601	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8909	679692	12	21627557	A	C	665603	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8910	679689	12	21627745	A	G	666405	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8911	679685	12	21628812	G	A	666661	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8912	679683	12	21629987	T	C	666243	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8913	679680	12	21644667	G	A	666685	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8914	679678	12	21654407	G	A	656146	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8915	307985	12	21689736	G	A	316625	Benign	Hypoglycemia_with_deficiency_of_glycogen_synth...	.	.	0.53155	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8916	261469	12	21692166	CA	C	254475	Likely_benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8917	261466	12	21711111	G	C	254478	Benign	not_specified|not_provided	0.71752	0.76612	0.71566	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8918	261464	12	21712545	A	G	254480	Benign	not_specified	0.74099	0.76571	0.74062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8919	199162	12	21712574	C	T	196321	Benign	Hypoglycemia_with_deficiency_of_glycogen_synth...	0.74269	.	0.74062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8920	261463	12	21713308	T	A	254481	Benign	Hypoglycemia_with_deficiency_of_glycogen_synth...	0.76519	0.78958	0.75459	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8921	261462	12	21713402	T	C	254482	Benign	Hypoglycemia_with_deficiency_of_glycogen_synth...	0.74273	0.76856	0.74062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8922	261473	12	21715989	C	T	254484	Benign	not_specified|not_provided	0.18238	0.20874	0.17652	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8923	308019	12	21791272	T	C	316663	Benign	Lactate_dehydrogenase_B_deficiency	0.93541	0.98053	0.93251	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8924	672441	12	21958399	G	C	666416	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8925	673827	12	21970019	C	T	666270	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8926	681194	12	21982281	A	G	666716	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8927	681193	12	21994955	G	C	665637	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8928	681192	12	21997121	G	C	666314	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8929	261216	12	22005003	T	G	254488	Benign	not_specified|not_provided	0.35966	0.38829	0.33467	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8930	681190	12	22005771	A	G	666744	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8931	677919	12	22014222	T	C	666745	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8932	673006	12	22015768	G	A	666437	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8933	308037	12	22016004	GA	G	330167	Benign/Likely_benign	Hypertrichotic_osteochondrodysplasia|Familial_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8934	681189	12	22016216	AAGTTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACT	A,AAATTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACT	666443	Benign	not_provided	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8935	673826	12	22017157	G	C	665667	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8936	45402	12	22017422	A	G	54569	Benign/Likely_benign	Hypertrichotic_osteochondrodysplasia|Familial_...	0.99808	0.99952	0.9982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8937	671057	12	22035873	C	T	665675	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8938	673825	12	22041044	GGACAGAGGGGTT	G	666336	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8939	261214	12	22047151	G	T	254490	Benign	not_specified	0.99808	0.99953	0.9978	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8940	681188	12	22061432	T	C	666749	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8941	45386	12	22063115	A	G	54553	Benign/Likely_benign	Cardiomyopathy|Hypertrichotic_osteochondrodysp...	0.99646	0.99897	0.9972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8942	261213	12	22063737	G	T	254491	Benign	not_specified	0.98969	0.99692	0.99161	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8943	45384	12	22063749	T	C	54551	Benign/Likely_benign	Hypertrichotic_osteochondrodysplasia|Familial_...	0.98977	0.99693	0.99161	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8944	681187	12	22064188	T	C	665679	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8945	672436	12	22066180	C	T	665684	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8946	45419	12	22068849	G	T	54586	Benign/Likely_benign	Hypertrichotic_osteochondrodysplasia|Familial_...	0.58794	0.6138	0.64477	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8947	681185	12	22069114	G	T	665689	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8948	681184	12	22078556	T	C	666469	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8949	681183	12	22078571	T	A	666472	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8950	261217	12	22078838	T	G	254492	Benign	not_specified	0.63894	0.64151	0.70168	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8951	681182	12	22079318	G	A	666484	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8952	308059	12	25358650	A	T	331607	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	0.54832	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8953	308062	12	25358662	CTT	C	316688	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8954	308064	12	25358828	T	G	324167	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	0.54832	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8955	308065	12	25358943	T	C	330205	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	0.54852	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8956	308066	12	25358969	T	G	316694	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	0.43331	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8957	308075	12	25359328	A	T	316697	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	0.54812	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8958	308076	12	25359352	G	A	324182	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	0.54852	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8959	308077	12	25359464	TA	T	331627	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8960	308082	12	25359841	T	C	316700	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	0.52556	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8961	308089	12	25360449	C	CA	316706	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8962	308102	12	25361091	T	C	330231	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	0.9974	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8963	308118	12	25362217	A	G	324217	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	0.63591	0.54912	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8964	40467	12	25362552	A	C	48937	Benign/Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrom...	.	.	0.52057	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8965	561815	12	25368084	T	C	552690	Benign	not_provided	.	.	0.54752	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8966	46538	12	25368462	C	T	55703	Benign	Noonan_syndrome_3|Rasopathy|not_specified	0.99854	0.99954	0.9976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8967	402425	12	32481093	G	C	390019	Benign	not_specified	0.18861	0.23408	0.26458	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8968	802832	12	32552769	C	G	791228	Benign	Charcot-Marie-Tooth_disease,_type_4H	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8969	308287	12	32735236	C	T	331861	Benign	Charcot-Marie-Tooth_disease_type_4|not_specifi...	0.49892	.	0.46705	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8970	670478	12	32754946	T	G	666803	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8971	670479	12	32755058	T	A	666454	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8972	670509	12	32755400	T	C	666808	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8973	680165	12	32763474	T	G	666566	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8974	308297	12	32772620	C	T	316842	Likely_benign	Charcot-Marie-Tooth_disease_type_4	0.09811	0.0953	0.0651	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8975	668737	12	32778296	C	T	666815	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8976	308299	12	32778581	T	C	330499	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_4|not_specifi...	0.13263	0.13177	0.14018	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8977	680168	12	32778913	G	A	666819	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8978	308313	12	32794615	C	T	331882	Likely_benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.06689	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8979	308322	12	32795190	C	T	330532	Likely_benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.06709	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8980	308324	12	32795295	A	T	330549	Likely_benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.06709	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8981	308327	12	32795421	A	G	331894	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.74181	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8982	308336	12	32796393	ACTAT	A	330561	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8983	308341	12	32796597	G	A	330563	Likely_benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.06789	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8984	308351	12	32797237	G	T	331938	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.43371	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8985	308355	12	32797386	TA	T	316862	Likely_benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.06689	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8986	308361	12	32797905	A	G	330594	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.49661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8987	308366	12	32798227	C	CT	324449	Uncertain_significance	Charcot-Marie-Tooth_disease_type_4	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8988	308372	12	32798458	A	G	330604	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.99022	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8989	308377	12	32798665	G	A	324459	Benign	Charcot-Marie-Tooth_disease_type_4	.	.	0.46765	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8990	678476	12	32854151	A	G	666458	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8991	671551	12	32854602	G	A	666462	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8992	678685	12	32863700	A	G	666837	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8993	671780	12	32865915	C	T	665793	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8994	676117	12	32890685	C	T	665808	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8995	671645	12	32890912	T	A	666607	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8996	680551	12	32893715	G	T	666478	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8997	680576	12	32895955	G	A	665817	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8998	308420	12	32897647	C	CA	332046	Uncertain_significance	Lethal_Encephalopathy	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
8999	680849	12	32900620	T	C	665824	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9000	308468	12	32943795	C	A	330718	Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopathy	.	.	0.03574	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9001	308471	12	32944087	C	G	332116	Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopathy	.	.	0.03574	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9002	308481	12	32944414	G	T	316934	Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopathy	.	.	0.89916	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9003	45070	12	32949029	A	AG	54237	Benign/Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopath...	0.19029	0.2108	0.31829	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9004	672403	12	32949427	T	C	666873	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9005	672402	12	32955154	G	C	666881	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9006	672401	12	32955642	G	A	665867	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9007	672209	12	32955647	C	A	666513	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9008	672400	12	32955675	C	G	665870	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9009	259441	12	32974245	C	T	254502	Benign	not_specified	0.76649	0.71268	0.59165	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9010	674301	12	32993822	A	G	666893	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9011	669622	12	33049157	C	T	666640	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9012	369015	12	33049781	G	A	353244	Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopathy	.	.	0.33247	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9013	683983	12	33049929	C	T	666899	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9014	308537	12	39687754	T	C	324579	Benign	Congenital_fibrosis_of_the_extraocular_muscles	.	.	0.38199	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9015	308542	12	39687989	T	C	330788	Benign	Congenital_fibrosis_of_the_extraocular_muscles	.	.	0.38219	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9016	39192	12	40631791	T	C	47798	Benign	Parkinson_disease_8,_autosomal_dominant	0.52906	0.52626	0.45288	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9017	308613	12	40645257	C	A	324683	Benign	Parkinson_disease_8,_autosomal_dominant	0.31818	0.36221	0.31949	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9018	308617	12	40681142	C	CT	330850	Benign	Parkinson_disease_8,_autosomal_dominant	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9019	39197	12	40713834	C	A	47803	Benign	Parkinson_disease_8,_autosomal_dominant	0.6859	0.67809	0.68291	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9020	39201	12	40713901	T	A	47807	Likely_benign	Parkinson_disease_8,_autosomal_dominant	0.25774	0.29827	0.28594	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9021	39209	12	40716260	T	C	47815	Benign	Parkinson_disease_8,_autosomal_dominant	0.55344	0.57331	0.58526	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9022	39222	12	40742254	G	A	47828	Likely_benign	Parkinson_disease_8,_autosomal_dominant	0.25608	0.30013	0.27376	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9023	308647	12	40758652	T	C	324716	Benign	Parkinson_disease_8,_autosomal_dominant|not_pr...	0.61227	0.62398	0.55172	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9024	308656	12	40761931	A	C	317030	Benign	Parkinson_disease_8,_autosomal_dominant	.	.	0.55132	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9025	308657	12	40761951	C	T	332384	Benign	Parkinson_disease_8,_autosomal_dominant	.	.	0.55152	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9026	308662	12	40762303	G	C	317036	Benign	Parkinson_disease_8,_autosomal_dominant	.	.	0.55132	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9027	308668	12	40762546	T	C	330896	Benign	Parkinson_disease_8,_autosomal_dominant	.	.	0.55132	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9028	679919	12	41312365	A	T	665885	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9029	679921	12	41318169	G	T	666660	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9030	679922	12	41318620	T	C	665889	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9031	679153	12	41323480	C	T	665893	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9032	679156	12	41330531	T	C	665894	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9033	679152	12	41331612	T	C	665902	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9034	128791	12	41337435	C	T	134240	Benign	not_specified	0.62158	0.61925	0.57149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9035	679162	12	41386743	A	T	665913	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9036	679164	12	41387110	C	G	666564	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9037	681651	12	41414357	A	C	666908	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9038	681652	12	41463680	C	T	666911	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9039	679926	12	41463689	T	C	666923	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9040	308683	12	42852328	C	A	332405	Benign	Progressive_myoclonus_epilepsy_with_ataxia	.	.	0.96965	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9041	308692	12	42853058	GT	G	324780	Uncertain_significance	Progressive_myoclonus_epilepsy_with_ataxia	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9042	308694	12	42853084	C	A	324781	Benign	Progressive_myoclonus_epilepsy_with_ataxia	.	0.24671	0.30012	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9043	308700	12	42853520	A	G	324798	Benign	Progressive_myoclonus_epilepsy_with_ataxia	.	.	0.72105	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9044	96506	12	42854205	A	G	102400	Benign	Seizures|Progressive_myoclonus_epilepsy_with_a...	0.43526	0.43846	0.42931	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9045	130024	12	42854208	A	G	135470	Benign	Seizures|Progressive_myoclonus_epilepsy_with_a...	0.29986	0.34591	0.27057	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9046	668046	12	42858029	C	G	665929	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9047	668045	12	42862305	G	C	666587	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9048	674935	12	42862750	T	G	666933	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9049	668602	12	42863636	A	AC	666944	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9050	668600	12	42863801	G	A	665932	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9051	668599	12	42866065	A	G	665952	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9052	308741	12	44181141	A	G	332517	Likely_benign	IRAK4_deficiency	.	.	0.02416	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9053	308828	12	48236386	T	A	317210	Likely_benign	Vitamin_D-Dependent_Rickets	.	.	0.54333	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9054	308840	12	48236550	G	C	332585	Benign	Vitamin_D-Dependent_Rickets	.	.	0.97824	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9055	308841	12	48236623	G	T	331058	Likely_benign	Vitamin_D-Dependent_Rickets	.	.	0.5026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9056	308842	12	48236664	C	T	332589	Uncertain_significance	Vitamin_D-Dependent_Rickets	.	.	0.00539	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9057	308862	12	48238068	C	A	331077	Likely_benign	Vitamin_D-Dependent_Rickets	.	.	0.12879	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9058	308868	12	48238221	G	T	332607	Likely_benign	Vitamin_D-Dependent_Rickets	.	.	0.49421	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9059	308887	12	48272895	A	G	331088	drug_response	peginterferon_alfa-2b_and_ribavirin_response_-...	0.67315	0.63756	0.67153	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9060	308889	12	48293605	C	G	317255	Likely_benign	Vitamin_D-Dependent_Rickets	.	.	0.16514	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9061	308891	12	48293716	G	T	331092	Likely_benign	Vitamin_D-Dependent_Rickets	.	.	0.16613	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9062	675027	12	48368989	A	C	666974	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9063	802842	12	48373718	A	AC	791239	Benign	Stickler_syndrome_type_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9064	674857	12	48374513	A	G	666656	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9065	674856	12	48374826	T	G	667018	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9066	674843	12	48375475	C	G	666658	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9067	93787	12	48375568	A	G	99689	Benign/Likely_benign	Type_II_Collagenopathies|not_specified|Stickle...	0.45279	0.48963	0.48283	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9068	674842	12	48375965	C	T	666662	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9069	258226	12	48375975	A	G	254539	Benign	not_specified|not_provided	0.42142	0.39002	0.47324	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9070	258225	12	48376291	G	A	254540	Benign/Likely_benign	Type_II_Collagenopathies|not_specified|Stickle...	0.38682	0.39583	0.42971	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9071	674840	12	48376503	C	T	667026	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9072	674839	12	48376530	C	A	666663	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9073	258219	12	48377970	A	G	254547	Benign	not_specified|not_provided	0.76596	0.75222	0.68311	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9074	674837	12	48379810	G	A	666666	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9075	674836	12	48379856	T	C	667048	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9076	585506	12	48379961	A	C	577262	Benign	not_provided	.	.	0.48403	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9077	585505	12	48379964	A	G	577263	Benign	not_provided	.	.	0.48383	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9078	585507	12	48380031	A	G	577264	Benign	not_provided	.	.	0.48602	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9079	258210	12	48380682	G	A	254555	Benign/Likely_benign	Type_II_Collagenopathies|not_specified|Stickle...	0.20767	0.196	0.20367	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9080	683344	12	48381756	G	C	667055	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9081	677868	12	48383797	G	T	666003	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9082	677867	12	48383814	G	A	666779	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9083	674982	12	48386553	A	G	666782	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9084	674981	12	48386577	G	T	666668	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9085	677855	12	48387025	T	A	666007	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9086	677854	12	48387052	A	C	666015	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9087	677853	12	48388830	C	T	666671	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9088	677852	12	48388856	A	C	666677	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9089	675025	12	48388995	TC	T	666679	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9090	258244	12	48389023	C	T	254562	Benign/Likely_benign	Type_II_Collagenopathies|not_specified|Stickle...	0.26765	0.29345	0.16074	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9091	258243	12	48389643	A	C	254563	Benign/Likely_benign	Type_II_Collagenopathies|not_specified|Stickle...	0.82085	0.74893	0.68271	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9092	683339	12	48390080	T	C	666683	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9093	258241	12	48390435	A	T	254565	Benign	not_specified	0.02376	0.02482	0.01098	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9094	668711	12	48391055	G	A	667058	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9095	668953	12	48391094	C	T	666018	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9096	668947	12	48391127	C	T	666687	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9097	198471	12	48391416	G	T	195632	Benign/Likely_benign	Type_II_Collagenopathies|not_specified|Stickle...	0.20145	.	0.21925	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9098	677845	12	48392433	A	G	666689	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9099	671012	12	48393444	C	T	666020	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9100	677851	12	48393526	G	A	667068	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9101	93791	12	48398002	G	C	99693	Benign	not_specified	0.78425	0.77124	0.6859	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9102	93788	12	48398080	T	A	99690	Benign/Likely_benign	Type_II_Collagenopathies|not_specified|Stickle...	0.78915	0.77256	0.6853	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9103	308941	12	48398223	G	A	317278	Benign/Likely_benign	Type_II_Collagenopathies|Stickler_Syndrome,_Do...	.	.	0.72764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9104	674834	12	48398350	C	A	667074	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9105	683490	12	48524804	A	G	666021	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9106	255763	12	48527186	C	T	254572	Benign	Glycogen_storage_disease,_type_VII|not_specifi...	0.19722	0.14854	0.1879	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9107	669651	12	48527715	C	T	666036	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9108	676171	12	48528419	T	C	666037	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9109	683493	12	48531917	T	A	666041	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9110	667847	12	48534288	T	G	667100	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9111	255754	12	48537624	A	G	254583	Benign	not_specified|not_provided	0.81047	0.73522	0.64537	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9112	255758	12	48539482	T	G	254587	Benign	Glycogen_storage_disease,_type_VII|not_specifi...	0.29248	.	0.20427	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9113	402501	12	49308284	A	G	390097	Benign	not_specified	0.30747	0.36988	0.3099	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9114	88685	12	49312533	GTA	G	94265	Likely_pathogenic	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9115	402502	12	49312593	A	G	390144	Benign	not_specified	0.30632	.	0.30771	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9116	402503	12	49314862	C	A	390099	Benign	not_specified	0.30532	0.36971	0.30831	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9117	402504	12	49314994	A	G	390145	Benign	not_specified	0.30617	0.36923	0.30811	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9118	504917	12	50348078	T	C	497419	Benign	not_specified	0.6933	0.75927	0.66713	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9119	309241	12	50349765	C	T	317502	Benign	Nephrogenic_diabetes_insipidus	.	.	0.35264	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9120	309255	12	50350953	T	C	317523	Benign	Nephrogenic_diabetes_insipidus	.	.	0.88878	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9121	309257	12	50351075	T	C	333084	Benign	Nephrogenic_diabetes_insipidus	.	.	0.48123	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9122	309259	12	50351148	A	G	333088	Benign	Nephrogenic_diabetes_insipidus	.	.	0.22764	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9123	309263	12	50351679	TTCTC	T	331609	Benign	Nephrogenic_diabetes_insipidus	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9124	309264	12	50351886	A	G	331612	Benign	Nephrogenic_diabetes_insipidus	.	.	0.88518	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9125	309274	12	50352559	T	C	317541	Benign	Nephrogenic_diabetes_insipidus	.	.	0.23423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9126	309281	12	51380232	A	G	331638	Benign	Anemia,_hypochromic_microcytic,_with_iron_over...	.	0.42536	0.4381	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9127	309290	12	51381077	C	T	317582	Benign	Anemia,_hypochromic_microcytic,_with_iron_over...	.	0.91858	0.89677	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9128	309307	12	51382232	T	C	331680	Benign	Anemia,_hypochromic_microcytic,_with_iron_over...	0.89536	0.93421	0.89597	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9129	309323	12	51404467	C	T	325455	Benign	Anemia,_hypochromic_microcytic,_with_iron_over...	0.47086	0.45251	0.3119	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9130	309328	12	51420164	C	A	333177	Benign	Anemia,_hypochromic_microcytic,_with_iron_over...	.	0.91806	0.89677	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9131	130253	12	52080965	C	T	135700	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.80015	0.83669	0.78494	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9132	670686	12	52099153	C	T	667114	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9133	669362	12	52163248	A	G	666047	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9134	260352	12	52163789	G	A	254609	Benign	not_specified	0.7549	0.79147	0.70747	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9135	684270	12	52164027	G	A	666831	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9136	670526	12	52174301	G	T	666833	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9137	670540	12	52180118	G	A	666750	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9138	670844	12	52182452	C	T	666055	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9139	139073	12	52182545	A	G	142776	Benign	not_specified|Early_Infantile_Epileptic_Enceph...	0.06652	0.14	0.16014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9140	684272	12	52183485	C	T	666841	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9141	130247	12	52184271	T	C	135694	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.6256	0.65001	0.50379	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9142	670845	12	52184342	A	G	667128	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9143	668851	12	52184540	T	C	666057	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9144	668853	12	52184585	G	A	666059	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9145	130251	12	52200742	C	A	135698	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.60655	.	0.48902	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9146	309381	12	52202024	T	C	331755	Benign	Early_Infantile_Epileptic_Encephalopathy,_Auto...	.	.	0.16314	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9147	309407	12	52204246	T	C	331784	Benign	Early_Infantile_Epileptic_Encephalopathy,_Auto...	.	0.75365	0.83846	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9148	810906	12	52306027	C	G	799691	Benign	Hereditary_hemorrhagic_telangiectasia_type_2	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9149	136293	12	52307145	C	T	139996	Benign	Hereditary_hemorrhagic_telangiectasia_type_2|H...	0.47286	0.42633	0.43111	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9150	254710	12	52307308	A	G	254610	Benign	Hereditary_hemorrhagic_telangiectasia_type_2|n...	0.47818	0.45775	0.4367	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9151	439376	12	52307963	TCAGAATTGGAATTCTGCTGGG	T	433105	Benign	Hereditary_hemorrhagic_telangiectasia_type_2|n...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9152	254709	12	52312944	T	C	254616	Benign/Likely_benign	Hereditary_hemorrhagic_telangiectasia_type_2|n...	0.32493	0.28429	0.34345	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9153	439373	12	52312964	A	G	433114	Benign	Hereditary_hemorrhagic_telangiectasia_type_2|n...	.	0.30761	0.34325	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9154	810907	12	52314138	A	G	799705	Benign	Hereditary_hemorrhagic_telangiectasia_type_2	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9155	678439	12	52314295	T	G	666850	Benign	Hereditary_hemorrhagic_telangiectasia_type_2|n...	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9156	811605	12	52314327	C	T	799708	Benign	Hereditary_hemorrhagic_telangiectasia_type_2	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9157	810856	12	52314388	T	G	799709	Benign	Hereditary_hemorrhagic_telangiectasia_type_2	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9158	309454	12	52315237	T	C	333309	Benign	Hereditary_hemorrhagic_telangiectasia_type_1	.	.	0.34245	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9159	309467	12	52315923	T	C	333318	Benign	Hereditary_hemorrhagic_telangiectasia_type_1	.	.	0.69968	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9160	309477	12	52316603	T	C	333333	Likely_benign	Hereditary_hemorrhagic_telangiectasia_type_1	.	.	0.17672	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9161	309483	12	52317057	C	G	317733	Likely_benign	Hereditary_hemorrhagic_telangiectasia_type_1	.	.	0.13099	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9162	309484	12	52317075	G	A	331852	Likely_benign	Hereditary_hemorrhagic_telangiectasia_type_1	.	.	0.14257	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9163	66545	12	52682141	G	A	77442	not_provided	not_provided	0.22605	.	0.1873	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9164	309489	12	52708241	G	A	331858	Benign	Beaded_hair	.	.	0.71086	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9165	309494	12	52708420	G	A	333362	Benign	Beaded_hair	0.74907	0.69984	0.73622	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9166	309499	12	52708565	A	G	325618	Benign	Beaded_hair	0.72671	.	0.71146	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9167	309521	12	52711450	T	C	333400	Benign	Beaded_hair	0.73105	0.66626	0.71785	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9168	66546	12	52712975	G	A	77443	Benign	Beaded_hair|not_provided	0.31931	0.32313	0.36262	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9169	1891	12	52827608	C	T	16930	risk_factor	Pseudofolliculitis_barbae,_susceptibility_to|n...	.	0.12308	0.14317	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9170	768547	12	52863621	T	G	702366	Likely_benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9171	309550	12	52908473	G	A	331909	Benign	Epidermolysis_bullosa_simplex	.	.	0.12919	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9172	66224	12	52908872	C	T	77121	Benign	Epidermolysis_bullosa_simplex|not_specified|no...	0.15123	0.1344	0.12879	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9173	66223	12	52908917	T	C	77120	Benign	Epidermolysis_bullosa_simplex|not_specified|no...	0.17307	0.1394	0.15176	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9174	66198	12	52911401	T	G	77095	Benign	Epidermolysis_bullosa_simplex|not_specified|no...	0.15162	0.13	0.12859	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9175	66283	12	52912768	C	T	77180	Benign	Epidermolysis_bullosa_simplex|not_specified|no...	0.15193	.	0.1276	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9176	66282	12	52912870	A	G	77179	Benign	Epidermolysis_bullosa_simplex|not_specified|no...	0.15174	0.13029	0.128	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9177	256044	12	52912959	G	A	254617	Benign	Epidermolysis_bullosa_simplex|not_specified	0.16339	.	0.13818	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9178	256043	12	52913730	G	A	254618	Benign	Epidermolysis_bullosa_simplex|not_specified	0.07835	0.07218	0.06849	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9179	309581	12	52914211	T	C	333460	Benign	Epidermolysis_bullosa_simplex	.	.	0.10523	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9180	309616	12	53044267	C	T	331979	Benign	Ichthyosis_bullosa_of_Siemens	0.11164	.	0.07208	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9181	309626	12	53045777	G	A	317855	Benign	Ichthyosis_bullosa_of_Siemens	0.35845	.	0.27816	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9182	309637	12	53069014	T	C	333512	Benign	Nonepidermolytic_palmoplantar_keratoderma|Bull...	0.22336	0.30507	0.27556	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9183	66623	12	53070145	G	A	77520	Benign	Nonepidermolytic_palmoplantar_keratoderma|Bull...	0.47009	0.44344	0.42552	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9184	66667	12	53071382	A	C	77564	not_provided	not_provided	0.38641	.	0.28854	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9185	66666	12	53071560	A	G	77563	not_provided	not_provided	0.47009	0.44403	0.42552	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9186	66516	12	53200584	T	C	77413	Benign	White_sponge_nevus_of_cannon|not_provided	.	.	0.83706	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9187	309671	12	53201413	T	C	325795	Benign	White_sponge_nevus_of_cannon	0.82162	.	0.83786	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9188	309687	12	53204614	C	T	333549	Benign	White_sponge_nevus_of_cannon	0.83568	0.83173	0.82348	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9189	768551	12	53207583	C	CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG	702383	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9190	66535	12	53294381	T	C	77432	not_provided	not_provided	0.48585	0.55301	0.56749	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9191	128252	12	53703021	G	A	133701	Benign	Glucocorticoid_deficiency_with_achalasia|not_s...	0.90627	0.97454	0.91534	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9192	309747	12	53720494	G	A	325888	Uncertain_significance	Osteogenesis_Imperfecta,_Recessive	.	.	0.00339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9193	309751	12	53720718	C	CTTGAT	325889	Benign	Osteogenesis_Imperfecta,_Recessive	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9194	285779	12	53722098	A	G	270016	Benign	Osteogenesis_imperfecta_type_12|not_specified|...	0.95229	0.98664	0.96126	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9195	285778	12	53722128	G	A	270015	Benign	Osteogenesis_imperfecta_type_12|not_specified|...	0.89941	0.95821	0.89557	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9196	667626	12	53723368	G	A	666759	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9197	129297	12	56078872	G	A	134743	Conflicting_interpretations_of_pathogenicity	not_specified|Congenital_Muscular_Dystrophy,_I...	0.00485	0.00466	0.0024	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9198	94047	12	56092668	C	T	99949	Conflicting_interpretations_of_pathogenicity	Muscular_dystrophy,_congenital,_due_to_integri...	0.03852	.	0.01558	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9199	94046	12	56092682	C	T	99948	Benign/Likely_benign	not_specified|Congenital_Muscular_Dystrophy,_I...	0.05943	.	0.03494	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9200	258857	12	56115585	C	T	254633	Benign/Likely_benign	Pigmentary_retinal_dystrophy|not_specified	0.15739	0.19522	0.15276	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9201	130383	12	56398454	G	C	135830	Benign	Sulfite_oxidase_deficiency|not_specified	0.73581	.	0.7522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9202	309857	12	56435929	C	G	318056	Benign	Diamond-Blackfan_anemia|not_specified	0.46494	.	0.55591	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9203	309863	12	56843825	C	CA	325984	Benign	Cataract	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9204	309866	12	56843893	G	T	325987	Benign	Cataract	.	.	0.32209	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9205	309871	12	56844349	C	T	318063	Benign	Cataract	.	.	0.26917	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9206	309875	12	56844559	A	G	325992	Benign	Cataract	.	.	0.85304	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9207	309883	12	56844970	A	C	333746	Benign	Cataract	.	.	0.97224	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9208	260169	12	56848079	C	T	254635	Benign/Likely_benign	Cataract|Cataract_15,_multiple_types|not_speci...	0.01899	0.0253	0.02196	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9209	768555	12	57080664	CAT	C	702431	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9210	226408	12	57441501	C	A	228212	Likely_benign	Deafness,_autosomal_dominant_48|Nonsyndromic_H...	0.00154	0.00287	0.001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9211	774328	12	57573272	C	T	702442	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9212	1189	12	57870155	A	C	16228	Uncertain_significance	Coronary_artery_spasm_3,_susceptibility_to	0.48939	.	0.37021	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9213	682853	12	57968738	G	A	666097	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9214	682856	12	57975570	A	G	666891	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9215	682858	12	57976168	G	A	666798	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9216	309975	12	58142004	TA	T	332311	Uncertain_significance	Cutaneous_Malignant_Melanoma,_Dominant	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9217	678634	12	58186595	A	G	666914	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9218	198206	12	64202890	C	G	195367	Benign	not_specified	.	0.13708	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9219	403522	12	64875787	T	A	390062	Benign	Glaucoma_1,_open_angle,_p|not_specified|not_pr...	0.43972	0.48142	0.35324	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9220	310175	12	65108160	G	C	332553	Benign	Sanfilippo_syndrome	.	.	0.60643	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9221	310184	12	65109168	C	T	334206	Benign	Sanfilippo_syndrome	.	.	0.59385	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9222	310198	12	65110141	G	A	332602	Benign	Sanfilippo_syndrome	.	.	0.71566	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9223	94029	12	65146532	C	T	99931	Benign	Sanfilippo_syndrome|Mucopolysaccharidosis,_MPS...	0.69322	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9224	310219	12	65563712	C	T	326356	Benign/Likely_benign	Dermatofibrosis_lenticularis_disseminata|not_s...	.	0.20349	0.08327	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9225	310222	12	65563754	C	T	332656	Likely_benign	Dermatofibrosis_lenticularis_disseminata	0.00174	0.07426	0.04812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9226	310255	12	65641261	G	A	332686	Likely_benign	Dermatofibrosis_lenticularis_disseminata	.	.	0.04792	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9227	310277	12	66741537	AT	A	326419	Benign	Fraser_syndrome_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9228	310290	12	66742183	A	G	332712	Benign	Fraser_syndrome_1	.	.	0.50379	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9229	261411	12	66786073	A	G	254710	Benign	Fraser_syndrome_1|not_specified	0.97822	.	0.97464	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9230	261410	12	66786091	G	C	254711	Benign	Fraser_syndrome_1|not_specified	0.88958	0.94938	0.84365	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9231	261409	12	66814487	C	A	254712	Benign	Fraser_syndrome_1|not_specified	0.52142	0.56156	0.42232	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9232	261413	12	66909389	C	T	254713	Benign	Fraser_syndrome_1|not_specified	0.6852	0.65231	0.71705	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9233	695297	12	69202326	C	T	685383	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9234	310335	12	69747177	C	T	332755	Benign	Familial_visceral_amyloidosis,_Ostertag_type	.	.	0.91993	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9235	310354	12	69747834	C	T	318410	Benign	Familial_visceral_amyloidosis,_Ostertag_type	.	.	0.46865	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9236	310386	12	72372862	A	G	326588	Likely_benign	Tryptophan_5-monooxygenase_deficiency	0.58189	0.56466	0.54173	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9237	310388	12	72416235	A	T	332804	Likely_benign	Tryptophan_5-monooxygenase_deficiency	0.5662	0.57319	0.48722	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9238	35752	12	76741341	C	T	44416	Benign/Likely_benign	Bardet-Biedl_syndrome_1|not_specified|not_prov...	0.00792	0.00837	0.0028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9239	669384	12	80613584	T	C	667213	Likely_benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9240	226934	12	80672064	A	G	230375	Benign	not_specified	.	0.69854	0.68331	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9241	501890	12	80707236	T	A	493314	Benign	not_specified	0.19337	0.21747	0.18331	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9242	226944	12	80712420	G	A	230391	Benign	not_specified	0.97287	0.9618	0.94848	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9243	226949	12	80730561	CT	C	230398	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9244	226952	12	80735771	T	C	230404	Benign	not_specified	0.52952	0.61508	0.49481	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9245	226956	12	80747209	C	G	230408	Benign	not_specified	0.18954	0.22331	0.17332	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9246	226957	12	80747242	A	G	230409	Benign	not_specified	0.84538	0.85312	0.83407	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9247	226962	12	80750659	G	A	230414	Benign	not_specified	0.19322	0.18289	0.17153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9248	226966	12	80752660	A	G	230419	Benign	not_specified	0.93584	0.94001	0.96446	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9249	226968	12	80761411	G	T	230422	Benign	not_specified	0.18908	.	0.16993	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9250	226969	12	80761430	G	A	230423	Benign	not_specified	0.71799	0.78683	0.67812	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9251	226970	12	80761465	G	A	230424	Benign	not_specified	0.94124	0.94539	0.96865	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9252	226972	12	80765800	A	G	230426	Benign	not_specified	0.49654	0.58932	0.48403	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9253	226976	12	80771813	G	A	230431	Benign	not_specified	0.72274	0.78742	0.68311	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9254	671633	12	80862469	A	T	666135	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9255	682569	12	80889829	T	A	656185	Benign	Deafness,_autosomal_recessive_84|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9256	682570	12	80890325	T	TG	666138	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9257	805262	12	80998917	T	C	793449	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9258	310511	12	81102921	T	C	334598	Benign	Centronuclear_Myopathy,_Dominant	.	.	0.45847	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9259	310516	12	81103144	A	G	326716	Benign	Centronuclear_Myopathy,_Dominant	.	.	0.45847	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9260	681349	12	88448328	T	A	667239	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9261	678616	12	88449096	A	G	666884	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9262	166828	12	88454594	T	TA	177569	Benign	Joubert_syndrome|Leber_congenital_amaurosis|Me...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9263	126261	12	88473049	C	T	131793	Benign	not_specified	0.77126	0.88413	0.76458	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9264	668069	12	88478082	C	T	666942	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9265	261845	12	88478316	TA	T	254744	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9266	668067	12	88480623	G	A	666887	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9267	96170	12	88483272	TA	T	102064	Benign	Joubert_syndrome|Leber_congenital_amaurosis|Me...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9268	668886	12	88494718	C	T	667251	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9269	668066	12	88495290	G	C	666174	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9270	126253	12	88496838	C	G	131785	Benign	not_specified	0.77267	.	0.76458	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9271	126249	12	88505078	T	C	131781	Benign	not_specified|not_provided	0.77127	.	0.76458	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9272	678615	12	88519401	A	G	666952	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9273	680377	12	88522452	T	C	667264	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9274	166839	12	88522823	A	AC	177574	Benign	Joubert_syndrome|Leber_congenital_amaurosis|Me...	0.87054	0.92839	0.8736	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9275	12811	12	89328335	T	C	27850	Affects	Skin/hair/eye_pigmentation,_variation_in,_7	.	.	0.03175	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9276	802882	12	89745477	C	A	791287	Benign	Hypogonadotropic_hypogonadism_19_with_or_witho...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9277	677224	12	89853408	G	A	666195	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9278	768570	12	91372042	GA	G	778133	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9279	682690	12	95387756	C	T	667009	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9280	310677	12	96366698	G	A	327068	Likely_benign	Histidinemia	.	.	0.35244	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9281	310679	12	96366769	T	G	327069	Benign	Histidinemia	.	.	0.45347	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9282	310695	12	96367601	T	TAAAA	333174	Uncertain_significance	Histidinemia	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9283	310701	12	96367900	G	T	333182	Likely_benign	Histidinemia	.	.	0.17712	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9284	310709	12	96374563	T	C	334906	Benign	Histidinemia	0.81616	0.83938	0.88718	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9285	310710	12	96374614	C	T	318725	Benign	Histidinemia	0.84284	0.84683	0.91114	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9286	310719	12	96387621	A	G	333194	Benign	Histidinemia	0.64131	0.56479	0.57967	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9287	684070	12	98921343	C	T	666200	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9288	672959	12	98921533	G	T	667012	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9289	672960	12	98921574	G	T	667016	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9290	672961	12	98925255	T	C	667022	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9291	671210	12	98925650	G	T	667284	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9292	310785	12	98928646	A	G	334955	Likely_benign	Dilated_Cardiomyopathy,_Dominant	.	.	0.13359	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9293	678043	12	98994154	G	A	667033	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9294	306637	12	100813976	A	C	322498	Benign	Nonsyndromic_Hearing_Loss,_Dominant	0.4597	0.4875	0.377	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9295	368977	12	100815850	T	A	353206	Likely_benign	Nonsyndromic_Hearing_Loss,_Dominant	.	.	0.31729	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9296	129644	12	102064118	T	C	135090	Benign	Distal_arthrogryposis|not_specified	0.94995	0.95421	0.96446	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9297	306773	12	102139747	T	G	330054	Likely_benign	I_cell_disease|Mucolipidosis,_Type_III_Alpha/Beta	.	.	0.07827	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9298	671998	12	102150878	G	C	666005	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9299	96121	12	102154900	A	G	102015	Benign	I_cell_disease|not_specified|Mucolipidosis,_Ty...	0.59672	0.60146	0.6905	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9300	96119	12	102158763	T	C	102013	Benign	I_cell_disease|not_specified|Mucolipidosis,_Ty...	0.56251	0.58851	0.65136	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9301	671996	12	102162104	C	T	666428	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9302	671995	12	102165083	A	G	666183	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9303	671994	12	102173654	T	C	666192	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9304	671993	12	102180228	C	T	666430	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9305	671992	12	102182181	G	A	666199	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9306	684061	12	102184071	C	T	666013	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9307	306840	12	102790780	A	T	328922	Benign	Insulin-like_growth_factor_I_deficiency	.	.	0.61901	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9308	306880	12	102793569	C	T	330185	Benign	Insulin-like_growth_factor_I_deficiency	.	.	0.42692	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9309	306886	12	102793909	C	CT	322907	Uncertain_significance	Insulin-like_growth_factor_I_deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9310	306892	12	102794515	G	A	315820	Benign	Insulin-like_growth_factor_I_deficiency	.	.	0.63858	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9311	306911	12	103232766	C	T	330196	Benign	Phenylketonuria	.	.	0.29253	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9312	102592	12	103233031	G	A	108328	Benign	not_specified|not_provided	0.01845	0.01625	0.01058	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9313	167413	12	103237468	G	C	177903	Benign	not_specified	0.82716	.	0.84026	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9314	92755	12	103240630	C	A	98662	Benign	Phenylketonuria|not_specified|not_provided	0.3666	0.35173	0.26957	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9315	167414	12	103248924	C	T	177904	Benign	not_specified	0.65355	.	0.54653	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9316	102712	12	103249164	C	T	108448	not_provided	not_provided	.	.	0.23463	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9317	102673	12	103271193	G	A	108409	Benign	not_specified|not_provided	0.38282	0.37252	0.29433	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9318	92736	12	103306550	A	G	98643	Benign	Phenylketonuria|not_specified|not_provided	0.20691	0.19427	0.21685	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9319	585207	12	103310787	G	A	576256	Conflicting_interpretations_of_pathogenicity	Phenylketonuria	0.37714	.	0.36362	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9320	162758	12	103352649	C	G	175385	Benign	not_specified	0.10393	0.05252	0.07129	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9321	306923	12	106751563	C	T	315852	Uncertain_significance	Pol_III-related_leukodystrophy	.	.	0.00679	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9322	130001	12	106838340	T	C	135447	Benign	Pol_III-related_leukodystrophy|not_specified	0.19099	.	0.31789	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9323	130003	12	106903321	T	C	135449	Benign	Pol_III-related_leukodystrophy|not_specified	0.21152	0.32414	0.32488	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9324	306955	12	106903674	A	G	330244	Benign	Pol_III-related_leukodystrophy	.	.	0.32488	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9325	559220	12	108956417	TT	GG	549981	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9326	559222	12	108956433	C	T	549983	Benign	not_provided	0.62541	.	0.50759	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9327	214554	12	108956526	A	AG	211576	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9328	684116	12	108958439	T	C	666438	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9329	681978	12	108962398	C	G	666439	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9330	261417	12	110221631	G	C	254400	Benign	not_specified|not_provided	0.47609	.	0.5619	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9331	667567	12	110224922	A	C	666224	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9332	667566	12	110225923	C	G	665364	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9333	667565	12	110226796	A	G	666228	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9334	261420	12	110240838	T	G	254405	Benign	Spondylometaphyseal_dysplasia|Metatrophic_dysp...	0.58081	.	0.75439	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9335	670248	12	110270953	A	G	666234	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9336	670247	12	110271351	A	G	665388	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9337	670706	12	111052465	T	A	666236	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9338	670705	12	111083084	G	T	665393	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9339	31774	12	111350999	G	A	40434	not_provided	not_provided	.	.	0.14996	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9340	31772	12	111351029	TC	T	40432	Benign	Familial_hypertrophic_cardiomyopathy_10|not_sp...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9341	522365	12	111894072	C	T	512973	Likely_benign	Spinocerebellar_ataxia_2	0.19999	0.21574	0.23143	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9342	128508	12	112036929	G	A	133957	Benign/Likely_benign	Spinocerebellar_ataxia_2|not_specified	.	0.71861	0.44429	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9343	128507	12	112037000	G	C	133956	Benign/Likely_benign	Spinocerebellar_ataxia_2|not_specified	.	0.875	0.44429	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9344	307220	12	112856643	G	A	316040	Benign/Likely_benign	Noonan_syndrome|Noonan_syndrome_with_multiple_...	.	.	0.14317	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9345	561607	12	112890776	A	G	552671	Benign	not_provided	.	.	0.3734	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9346	40569	12	112939853	C	T	49039	Benign	Noonan_syndrome	.	.	0.51178	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9347	307230	12	112944240	CT	C	329407	Uncertain_significance	Noonan_syndrome|Noonan_syndrome_with_multiple_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9348	13985	12	113348870	G	A	29024	Uncertain_significance	Diabetes_mellitus,_type_1,_susceptibility_to	.	0.56278	0.47384	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9349	307275	12	114792236	T	C	316071	Benign	Holt-Oram_syndrome	.	.	0.80831	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9350	307300	12	114793240	C	T	323333	Benign	Holt-Oram_syndrome	.	0.68373	0.57228	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9351	307318	12	114846061	A	G	329565	Likely_benign	Holt-Oram_syndrome	.	.	0.0002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9352	307336	12	115108907	T	C	323367	Benign	Ulnar-mammary_syndrome	.	.	0.49581	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9353	307384	12	115121203	A	G	316155	Benign	Ulnar-mammary_syndrome	.	.	0.15915	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9354	307399	12	115121595	TA	T	330802	Benign	Ulnar-mammary_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9355	676114	12	120876065	A	C	665408	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9356	669703	12	120876476	T	A	665417	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9357	136259	12	121174899	T	C	139962	Benign	Deficiency_of_butyryl-CoA_dehydrogenase|not_sp...	0.50677	0.5706	0.59066	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9358	136260	12	121176679	C	T	139963	Benign	Deficiency_of_butyryl-CoA_dehydrogenase|not_sp...	0.59196	0.54526	0.67312	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9359	307453	12	121177778	A	G	316184	Benign	Deficiency_of_butyryl-CoA_dehydrogenase	.	.	0.27436	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9360	129234	12	121416622	C	G	134680	Benign	Maturity_onset_diabetes_mellitus_in_young|not_...	0.41748	0.47217	0.42851	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9361	14937	12	121416650	A	C	29976	Benign	SERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|Matur...	.	0.35329	0.29852	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9362	676859	12	121416988	A	G	666539	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9363	676864	12	121426478	C	T	665420	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9364	673535	12	121426594	G	A	666082	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9365	676874	12	121431225	G	A	666269	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9366	673536	12	121431300	C	T	666085	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9367	676860	12	121432302	T	G	666276	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9368	133355	12	121434630	C	CTCATTCAT	137094	Benign	not_specified|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9369	680606	12	121434833	G	A	666096	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9370	129229	12	121435342	C	T	134675	Benign	Maturity_onset_diabetes_mellitus_in_young|not_...	0.24639	0.33678	0.31669	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9371	129230	12	121435427	G	A	134676	Benign	Maturity_onset_diabetes_mellitus_in_young|not_...	0.24735	0.34651	0.31769	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9372	129231	12	121435475	G	A	134677	Benign	Maturity_onset_diabetes_mellitus_in_young|not_...	0.29007	0.43472	0.35963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9373	676877	12	121435587	G	T	666282	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9374	135505	12	121437221	T	C	139244	not_provided	not_specified	0.74389	0.81454	0.77696	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9375	36810	12	121437382	A	G	45471	Benign	Maturity-onset_diabetes_of_the_young,_type_3|n...	.	0.99585	0.98522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9376	673537	12	121438844	T	C	666285	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9377	307464	12	121439192	G	T	329694	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	0.35982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9378	307468	12	121439433	G	A	323496	Benign	Maturity_onset_diabetes_mellitus_in_young	.	.	0.36002	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9379	802899	12	122295335	T	C	791201	Benign	Hawkinsinuria	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9380	368982	12	122296784	C	T	353211	Benign	Hypertyrosinemia|Hawkinsinuria	0.31669	.	0.33606	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9381	403606	12	122372183	G	A	390112	Benign	not_specified	0.03379	0.04235	0.03435	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9382	403607	12	122386948	G	A	390117	Benign	not_specified	0.03445	0.04261	0.03614	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9383	770415	12	123186880	C	T	702187	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9384	671535	12	123718301	C	T	666286	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9385	307502	12	123741776	T	C	323565	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.65136	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9386	307507	12	123742061	G	A	316228	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.55731	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9387	307508	12	123742093	T	G	316231	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.65056	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9388	675007	12	124156487	C	T	666542	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9389	670707	12	124156897	A	G	666288	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9390	675008	12	124158080	A	G	666100	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9391	675009	12	124158450	T	C	666290	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9392	675010	12	124158455	T	C	665445	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9393	672228	12	124158502	G	A	665448	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9394	672250	12	124163512	C	T	665449	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9395	670708	12	124171151	C	T	665450	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9396	670709	12	124171176	A	G	666101	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9397	675011	12	124171323	T	C	665453	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9398	675012	12	124171658	C	T	666292	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9399	672251	12	124171826	T	C	666293	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9400	671911	12	124172307	C	T	666296	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9401	671912	12	124172342	T	C	665455	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9402	126290	12	124172555	A	T	131822	Benign	not_specified|not_provided	0.44679	0.35666	0.33167	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9403	126294	12	124172731	G	A	131826	Benign/Likely_benign	Joubert_syndrome|Meckel-Gruber_syndrome|Meckel...	0.45048	0.35772	0.33606	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9404	126293	12	124172746	T	C	131825	Benign	not_specified|not_provided	0.53552	0.42686	0.44549	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9405	671913	12	124173005	T	G	666302	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9406	672252	12	124177016	C	A	666551	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9407	126282	12	124177289	T	C	131814	Benign	Meckel_syndrome_type_8|not_specified	0.53629	0.42813	0.44549	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9408	671926	12	124177538	C	T	666306	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9409	126283	12	124179417	T	C	131815	Benign	Joubert_syndrome|Meckel-Gruber_syndrome|Meckel...	0.57227	0.43874	0.48223	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9410	675016	12	124179620	G	A	666310	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9411	126284	12	124179739	A	G	131816	Benign	not_specified|not_provided	0.39022	0.32599	0.27217	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9412	672253	12	124180011	T	C	666107	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9413	126285	12	124181049	C	T	131817	Benign/Likely_benign	Joubert_syndrome|Meckel-Gruber_syndrome|Meckel...	0.38959	0.32552	0.27236	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9414	675018	12	124181820	A	G	666313	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9415	672255	12	124184065	G	A	666115	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9416	672256	12	124184482	G	C	666562	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9417	671927	12	124184639	T	G	666321	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9418	307564	12	124192415	G	A	316270	Benign/Likely_benign	Joubert_syndrome|Meckel-Gruber_syndrome|Cutis_...	.	.	0.21685	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9419	307567	12	124192587	T	TCTCA	323625	Benign	Joubert_syndrome|Meckel-Gruber_syndrome|Cutis_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9420	307569	12	124192728	C	T	331039	Benign/Likely_benign	Joubert_syndrome|Meckel-Gruber_syndrome|Cutis_...	.	.	0.27217	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9421	676231	12	124196735	G	C	666144	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9422	307573	12	124196891	C	G	316275	Benign/Likely_benign	Joubert_syndrome|Meckel-Gruber_syndrome|Cutis_...	.	.	0.27217	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9423	95515	12	124197099	C	T	101414	Benign/Likely_benign	Joubert_syndrome|Meckel-Gruber_syndrome|Cutis_...	0.3826	0.48251	0.27217	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9424	95523	12	124209332	T	C	101422	Benign	Cutis_laxa,_recessive|not_specified	0.64663	0.67924	0.751	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9425	95524	12	124209352	C	T	101423	Benign	Cutis_laxa,_recessive|not_specified	0.63986	0.67563	0.7498	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9426	95525	12	124210782	T	C	101424	Benign	Cutis_laxa,_recessive|not_specified	0.63986	0.67559	0.7498	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9427	683167	12	124219791	C	T	665490	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9428	260260	12	124220055	T	C	254452	Benign	not_specified	0.57151	.	0.67991	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9429	95520	12	124229429	T	C	101419	Benign	Cutis_laxa,_recessive|not_specified	0.69537	0.6934	0.79952	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9430	683169	12	124236497	C	T	665492	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9431	95521	12	124241506	C	T	101420	Benign/Likely_benign	ALG9_congenital_disorder_of_glycosylation|Cuti...	0.02583	0.02835	0.01478	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9432	307610	12	124243707	T	C	331090	Benign	Cutis_laxa,_recessive	.	.	0.61761	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9433	307618	12	124244272	C	G	316294	Benign	Cutis_laxa,_recessive	.	.	0.79153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9434	307642	12	124246004	G	A	316304	Benign	Cutis_laxa,_recessive	.	.	0.60663	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9435	402611	12	124265687	T	C	390121	Benign	not_specified	0.60634	0.66321	0.71326	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9436	402612	12	124267638	A	G	389988	Benign	not_specified	0.92811	0.91334	0.96306	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9437	402613	12	124267703	T	C	390038	Benign	not_specified	0.66677	0.67025	0.80132	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9438	781702	12	124272382	T	C	713405	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9439	402614	12	124274474	A	G	390123	Benign	not_specified	0.73059	0.72937	0.83786	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9440	402615	12	124325977	T	G	390127	Benign	not_specified	0.91721	.	0.78614	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9441	402621	12	124387574	G	A	390129	Benign	not_specified	0.3006	0.30553	0.33566	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9442	402622	12	124387586	A	G	389996	Benign	not_specified	0.32229	0.30088	0.35803	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9443	402624	12	124399550	T	C	390002	Benign	not_specified	0.23407	0.17267	0.20847	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9444	402625	12	124417889	C	T	390133	Benign	not_specified	0.30743	0.37411	0.26058	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9445	253091	12	125284671	G	A	247502	Pathogenic	High_density_lipoprotein_cholesterol_level_qua...	0.00085	0.00065	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9446	768597	12	125396488	T	C	702205	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9447	769836	12	126137060	C	T	702216	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9448	307697	12	132414086	C	T	323783	Benign	Mitochondrial_myopathy_and_sideroblastic_anemi...	.	.	0.1274	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9449	683630	12	132427841	G	A	665502	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9450	683631	12	132427909	A	G	666180	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9451	226985	12	133196696	C	A	230275	Benign/Likely_benign	not_specified|not_provided	0.01738	0.02901	0.00938	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9452	676504	12	133212692	T	C	665511	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9453	380211	12	133233705	T	C	374780	Benign	not_specified|not_provided	0.97294	0.97117	0.98383	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9454	439266	12	133237753	G	GA	432724	Benign/Likely_benign	Hereditary_cancer-predisposing_syndrome|not_sp...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9455	380209	12	133252796	C	G	373073	Benign	not_specified|not_provided	0.68215	.	0.57169	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9456	679673	12	133252947	T	C	666617	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9457	676491	12	133253310	A	G	666621	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9458	676488	12	133254083	T	C	666220	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9459	676489	12	133256904	C	T	666369	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9460	676486	12	133257999	GGCTCA	G	666222	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9461	679670	12	133258088	C	T	666374	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9462	380208	12	133263825	G	A	373095	Benign	not_specified|not_provided	.	0.49014	0.37879	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9463	311285	13	20712746	CA	C	335443	Benign	Zonular_Pulverulent_Cataract	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9464	311296	13	20713527	T	A	319093	Benign	Zonular_Pulverulent_Cataract	.	.	0.95407	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9465	311298	13	20713694	G	T	327537	Benign	Zonular_Pulverulent_Cataract	.	.	0.97923	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9466	311308	13	20714863	C	T	327539	Benign	Zonular_Pulverulent_Cataract	.	.	0.27137	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9467	311312	13	20715037	A	G	335505	Likely_benign	Zonular_Pulverulent_Cataract	.	.	0.00919	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9468	311319	13	20715502	C	T	335528	Benign	Zonular_Pulverulent_Cataract	.	.	0.97804	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9469	311322	13	20715611	T	C	335530	Likely_benign	Zonular_Pulverulent_Cataract	.	.	0.00919	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9470	311327	13	20715877	C	T	319109	Benign	Zonular_Pulverulent_Cataract	.	.	0.24101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9471	311329	13	20715930	TCA	T	335534	Benign	Zonular_Pulverulent_Cataract	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9472	261459	13	20716533	G	T	254822	Benign	not_specified|Zonular_Pulverulent_Cataract|not...	0.96839	0.98676	0.96486	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9473	311353	13	20761763	A	G	335544	Benign	Mutilating_keratoderma|Hystrix-like_ichthyosis...	.	.	0.9972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9474	311356	13	20761888	C	T	327575	Benign	Mutilating_keratoderma|Hystrix-like_ichthyosis...	.	.	0.89337	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9475	311357	13	20761973	C	A	333862	Benign	Mutilating_keratoderma|Hystrix-like_ichthyosis...	.	.	0.87021	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9476	36277	13	20762956	A	G	44941	Benign	Mutilating_keratoderma|Hystrix-like_ichthyosis...	.	.	0.6867	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9477	44739	13	20763380	T	C	53906	Benign	Deafness,_autosomal_recessive_1A|not_specified...	0.00062	0.01459	0.03095	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9478	36279	13	20763642	C	T	44943	Benign	Deafness,_autosomal_recessive_1A|Deafness,_aut...	0.00254	0.04538	0.07189	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9479	311376	13	20796497	C	A	333878	Likely_benign	Hidrotic_ectodermal_dysplasia_syndrome|Nonsynd...	.	.	0.25479	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9480	402965	13	21189941	G	A	390036	Benign	not_specified	0.18141	0.13208	0.12999	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9481	402966	13	21205140	A	T	390156	Benign	not_specified	0.65824	0.7602	0.76478	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9482	402967	13	21205192	G	A	390163	Benign	not_specified	0.65824	0.76004	0.76478	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9483	311416	13	22245927	C	CTT	333898	Benign	Symphalangism-brachydactyly_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9484	311421	13	22255167	C	T	327654	Benign	Symphalangism-brachydactyly_syndrome	0.24704	0.32145	0.25339	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9485	311424	13	22275394	A	G	333908	Benign	Symphalangism-brachydactyly_syndrome	0.77403	.	0.83247	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9486	311426	13	22275583	G	A	319176	Benign	Symphalangism-brachydactyly_syndrome	0.98047	0.99482	0.98183	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9487	311478	13	23755127	G	A	335624	Likely_benign	Severe_autosomal_recessive_muscular_dystrophy_...	.	.	0.1252	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9488	684354	13	23808468	A	T	667089	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9489	678210	13	23808623	C	CTATT	666995	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9490	92654	13	23824783	T	G	98561	Benign	Severe_autosomal_recessive_muscular_dystrophy_...	0.47117	0.43426	0.52476	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9491	670553	13	23869771	G	C	666264	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9492	684357	13	23869907	T	C	667097	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9493	670065	13	23898454	C	T	667021	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9494	92657	13	23898509	T	C	98564	Benign/Likely_benign	Severe_autosomal_recessive_muscular_dystrophy_...	0.5762	0.67442	0.62979	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9495	167681	13	23898664	A	G	178066	Benign	Severe_autosomal_recessive_muscular_dystrophy_...	0.82108	.	0.8778	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9496	288428	13	23898934	G	A	272665	Benign/Likely_benign	Severe_autosomal_recessive_muscular_dystrophy_...	.	.	0.35024	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9497	130201	13	23905711	A	G	135648	Benign/Likely_benign	Spastic_ataxia_Charlevoix-Saguenay_type|not_sp...	0.20455	0.27797	0.25839	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9498	130200	13	23907677	C	T	135647	Benign	Spastic_ataxia_Charlevoix-Saguenay_type|not_sp...	0.98439	0.99567	0.98542	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9499	130199	13	23907909	A	G	135646	Benign/Likely_benign	Spastic_ataxia_Charlevoix-Saguenay_type|not_sp...	0.20455	0.27779	0.25899	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9500	130205	13	23909162	A	G	135652	Benign/Likely_benign	Spastic_ataxia_Charlevoix-Saguenay_type|not_sp...	0.20475	.	0.25919	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9501	130203	13	23911820	A	G	135650	Benign/Likely_benign	Spastic_ataxia_Charlevoix-Saguenay_type|not_sp...	0.20351	0.28091	0.25998	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9502	240895	13	23928671	C	T	241631	Benign	Spastic_paraplegia|Spastic_ataxia_Charlevoix-S...	0.02576	0.02332	0.00819	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9503	260389	13	23985391	T	C	254843	Benign/Likely_benign	Spastic_ataxia_Charlevoix-Saguenay_type|not_sp...	0.27651	.	0.3111	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9504	769844	13	25016092	C	T	702636	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9505	768604	13	25021144	GTCT	G	778271	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9506	311588	13	25456631	G	GT	335746	Benign	Seckel_syndrome|Primary_Microcephaly,_Recessive	.	.	0.32388	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9507	311597	13	25456911	G	A	327860	Benign	Seckel_syndrome|Primary_Microcephaly,_Recessive	.	.	0.15435	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9508	311598	13	25456917	T	C	335797	Benign	Seckel_syndrome|Primary_Microcephaly,_Recessive	.	.	0.13498	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9509	678327	13	25457595	G	T	667110	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9510	158213	13	25458232	AGTT	A	169016	Benign	Seckel_syndrome|not_specified|Primary_Microcep...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9511	158212	13	25458650	G	A	169017	Benign	not_specified|not_provided	0.7821	0.80662	0.7482	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9512	668064	13	25458853	T	G	667360	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9513	680183	13	25459270	C	T	667366	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9514	158208	13	25466774	T	C	169021	Benign	Seckel_syndrome|not_specified|Primary_Microcep...	0.76788	0.80358	0.73722	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9515	158207	13	25466955	T	C	169022	Benign	Seckel_syndrome|not_specified|Primary_Microcep...	0.45187	0.53945	0.48403	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9516	668063	13	25481614	T	C	666271	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9517	678325	13	25482508	G	A	666275	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9518	680180	13	25484392	C	T	666278	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9519	673928	13	25486287	C	T	667023	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9520	678324	13	25486515	C	T	667027	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9521	21666	13	25487103	T	C	34518	Benign	Seckel_syndrome|Primary_autosomal_recessive_mi...	0.12179	.	0.15515	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9522	128488	13	26043182	A	C	133937	Likely_benign	not_specified	0.2412	0.19131	0.20407	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9523	128489	13	26148966	C	T	133938	Likely_benign	not_specified	0.70832	0.62866	0.53634	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9524	128490	13	26273385	G	C	133939	Likely_benign	not_specified	0.98982	0.99726	0.98742	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9525	311641	13	28195972	C	T	319355	Likely_benign	Treacher_Collins_Syndrome,_Dominant	.	.	0.08087	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9526	311646	13	28196100	G	A	334181	Likely_benign	Treacher_Collins_Syndrome,_Dominant	0.00325	.	0.002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9527	669733	13	28493997	G	A	666284	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9528	683833	13	28494949	C	G	667116	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9529	673552	13	28498323	G	C	667377	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9530	134447	13	28624294	G	A	138186	not_provided	not_specified	0.52291	0.59878	0.55871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9531	162173	13	31819325	T	C	171886	not_provided	not_provided	.	.	0.20088	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9532	96626	13	31821256	C	G	102519	Benign	not_specified	0.40466	0.3617	0.2476	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9533	96628	13	31821992	T	C	102521	Benign	not_specified|not_provided	0.96399	0.98276	0.97544	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9534	96624	13	31891746	G	A	102517	Benign	not_specified|not_provided	0.65539	0.74246	0.66673	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9535	209598	13	32889363	G	A	205808	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.15955	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9536	209930	13	32889968	G	A	205811	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.74121	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9537	209606	13	32891451	CAAGT	C	205817	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.25839	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9538	209931	13	32892217	C	T	205823	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97424	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9539	209623	13	32894484	G	A	205837	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.04912	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9540	209934	13	32895377	G	C	205843	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97424	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9541	209935	13	32899878	C	T	205863	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97384	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9542	264863	13	32901905	A	AT	259427	Benign	Breast-ovarian_cancer,_familial_2	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9543	209936	13	32905265	G	A	205884	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97404	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9544	9329	13	32906729	A	C	24368	Benign	Breast_carcinoma|Hereditary_breast_and_ovarian...	.	0.27793	0.2494	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9545	209937	13	32908106	A	G	205894	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97404	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9546	132779	13	32913055	A	G	136527	Benign	Hereditary_breast_and_ovarian_cancer_syndrome|...	0.97577	.	0.97404	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9547	132780	13	32915005	G	C	136528	Benign	Hereditary_breast_and_ovarian_cancer_syndrome|...	0.97547	.	0.97364	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9548	264926	13	32918303	GA	G	259450	Benign	Breast-ovarian_cancer,_familial_2	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9549	209938	13	32920016	G	A	205931	Benign	Breast-ovarian_cancer,_familial_2|not_specified	.	.	0.97404	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9550	209714	13	32920618	G	A	205936	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.42332	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9551	209939	13	32920844	T	C	205938	Benign	Breast-ovarian_cancer,_familial_2|not_specified	.	.	0.97404	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9552	209738	13	32924884	C	T	205961	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.2482	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9553	209747	13	32927017	G	A	205970	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.03714	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9554	209940	13	32928317	T	C	205977	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97584	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9555	133738	13	32929387	T	C	137477	Benign	Ductal_breast_carcinoma|Breast-ovarian_cancer,...	0.9777	0.99372	0.97584	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9556	264968	13	32930936	G	A	259469	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.9986	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9557	209763	13	32933022	G	T	205988	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.4409	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9558	209942	13	32933937	A	G	205991	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97624	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9559	209783	13	32938755	C	CT	206009	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.21046	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9560	209788	13	32939302	G	A	206014	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.22065	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9561	264906	13	32942948	T	G	259489	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.22404	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9562	209821	13	32945932	C	T	206049	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.20887	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9563	209945	13	32946011	A	G	206051	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97604	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9564	209946	13	32946415	C	T	206053	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97604	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9565	209950	13	32954741	T	A	206082	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97664	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9566	209850	13	32954913	G	A	206084	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.00559	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9567	209858	13	32956757	G	A	206093	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.22804	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9568	209867	13	32958997	G	A	206102	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.02636	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9569	209870	13	32959534	A	G	206106	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.20927	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9570	209872	13	32959789	T	C	206108	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.22863	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9571	264910	13	32961189	G	GC	259515	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97664	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9572	209878	13	32961497	C	T	206116	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.01138	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9573	264867	13	32962258	C	CT	259517	Benign	Breast-ovarian_cancer,_familial_2	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9574	209884	13	32963529	C	G	206125	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.05112	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9575	209891	13	32964504	C	T	206133	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.16034	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9576	209893	13	32965310	G	A	206135	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.22824	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9577	209959	13	32965651	T	C	206136	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97664	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9578	209902	13	32967374	TC	T	206145	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.15994	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9579	209903	13	32967809	C	G	206147	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.16014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9580	209911	13	32969248	A	G	206157	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.16014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9581	209917	13	32970586	A	G	206163	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.21006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9582	209964	13	32971425	T	C	206167	Benign	Breast-ovarian_cancer,_familial_2	.	.	0.97684	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9583	125927	13	32973012	A	C	131465	Benign	Hereditary_breast_and_ovarian_cancer_syndrome|...	.	.	0.16074	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9584	311680	13	33590851	T	C	334231	Benign	Tumoral_calcinosis,_hyperphosphatemic,_familia...	0.94747	0.98652	0.94409	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9585	311701	13	33635463	T	C	319386	Benign	Tumoral_calcinosis,_hyperphosphatemic,_familial	0.76895	0.8036	0.71086	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9586	311705	13	33635835	T	C	334253	Benign	Tumoral_calcinosis,_hyperphosphatemic,_familial	0.96832	0.99186	0.97624	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9587	311724	13	33639609	A	G	334285	Likely_benign	Tumoral_calcinosis,_hyperphosphatemic,_familial	.	.	0.01258	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9588	311757	13	36877878	T	C	336031	Benign	Troyer_syndrome	.	.	0.98902	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9589	311793	13	37401917	GT	G	319478	Benign	Bare_lymphocyte_syndrome_2	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9590	311796	13	37402362	C	T	328029	Likely_benign	Bare_lymphocyte_syndrome_2	.	.	0.00938	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9591	311797	13	37402440	T	C	336079	Benign	Bare_lymphocyte_syndrome_2	.	.	0.79613	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9592	311802	13	37403143	G	A	328035	Likely_benign	Bare_lymphocyte_syndrome_2	.	.	0.14137	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9593	311809	13	37419035	G	T	319497	Benign	Primary_pulmonary_hypertension	.	.	0.11442	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9594	311810	13	37419042	AGTT	A	319502	Benign	Primary_pulmonary_hypertension	.	.	0.32089	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9595	311832	13	37419636	AAATGTT	A	336116	Benign	Primary_pulmonary_hypertension	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9596	311838	13	37420301	TAGATTA	T	319534	Benign	Primary_pulmonary_hypertension	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9597	311839	13	37420348	A	G	334428	Benign	Primary_pulmonary_hypertension	.	.	0.43011	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9598	311883	13	37422377	AG	A	334468	Benign	Primary_pulmonary_hypertension	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9599	675286	13	37423032	G	A	667127	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9600	672486	13	37439964	C	A	667034	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9601	683862	13	37440146	T	C	667035	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9602	802960	13	37580139	G	A	791343	Benign	Pontocerebellar_hypoplasia,_type_1c	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9603	263299	13	39262057	G	A	254848	Benign	Fraser_syndrome_1|not_specified	0.99977	0.99997	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9604	193535	13	39263023	C	T	190699	Benign	Fraser_syndrome_1|not_specified	0.18694	0.19033	0.08427	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9605	193536	13	39263714	T	C	190700	Benign	Fraser_syndrome_1|not_specified	.	0.99997	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9606	263300	13	39430314	C	T	254849	Benign	Fraser_syndrome_1|not_specified	0.7219	0.73977	0.77197	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9607	263301	13	39433606	A	G	254850	Benign	Fraser_syndrome_1|not_specified	0.39782	0.37337	0.4367	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9608	312045	13	39455266	G	A	328237	Benign	Fraser_syndrome_1	.	.	0.32628	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9609	312052	13	39456352	A	G	336408	Benign	Fraser_syndrome_1	.	.	0.43391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9610	312065	13	39457064	C	G	334678	Benign	Fraser_syndrome_1	.	.	0.43391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9611	312075	13	39457850	G	A	328254	Benign	Fraser_syndrome_1	.	.	0.29872	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9612	312078	13	39458116	T	C	336428	Benign	Fraser_syndrome_1	.	.	0.30371	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9613	312080	13	39458405	G	A	328262	Benign	Fraser_syndrome_1	.	.	0.30371	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9614	312087	13	39459389	C	T	328264	Benign	Fraser_syndrome_1	.	.	0.7474	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9615	312089	13	39459484	G	A	328272	Benign	Fraser_syndrome_1	.	.	0.29872	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9616	312093	13	39459694	C	T	319727	Benign	Fraser_syndrome_1	.	.	0.30871	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9617	312099	13	39460415	G	A	319745	Benign	Fraser_syndrome_1	.	.	0.7504	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9618	312101	13	39460466	T	A	319746	Benign	Fraser_syndrome_1	.	.	0.30851	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9619	312104	13	39460486	C	G	319751	Benign	Fraser_syndrome_1	.	.	0.43411	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9620	312106	13	39460522	T	TAG,G	336477	Benign	Fraser_syndrome_1	.	.	0.46446	1|2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9621	312111	13	39460539	AT	A	336493	Benign	Fraser_syndrome_1	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9622	312113	13	39460657	C	T	328287	Benign	Fraser_syndrome_1	.	.	0.43431	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9623	312116	13	39460823	C	T	328291	Benign	Fraser_syndrome_1	.	.	0.25719	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9624	193435	13	40229842	A	AG	190599	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9625	193436	13	40229891	G	A	190600	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.43809	.	0.48443	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9626	193437	13	40229957	T	A	190601	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.41606	0.51315	0.48423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9627	312139	13	40261945	A	G	336505	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.28848	0.25988	0.29553	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9628	312153	13	40325310	C	T	328314	Benign	Congenital_disorder_of_glycosylation	.	0.51466	0.46645	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9629	312159	13	40326282	A	G	334793	Benign	Congenital_disorder_of_glycosylation	.	0.44361	0.27596	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9630	312160	13	40326284	CA	C	328326	Benign	Congenital_disorder_of_glycosylation	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9631	312168	13	41363595	T	C	319824	Benign	Hyperornithinemia-hyperammonemia-homocitrullin...	.	.	0.57728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9632	683871	13	41372944	C	T	667130	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9633	139125	13	41373254	G	A	142828	Benign/Likely_benign	Hyperornithinemia-hyperammonemia-homocitrullin...	0.09157	0.07932	0.0629	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9634	672018	13	41378982	G	A	667132	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9635	139126	13	41379272	C	T	142829	Benign/Likely_benign	Hyperornithinemia-hyperammonemia-homocitrullin...	0.12517	0.09551	0.11342	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9636	672019	13	41379550	A	G	667040	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9637	139127	13	41382711	A	T	142830	Benign	Hyperornithinemia-hyperammonemia-homocitrullin...	0.34223	0.37248	0.32268	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9638	674052	13	41382886	G	A	667391	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9639	672020	13	41383036	A	C	667044	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9640	683874	13	41383515	A	G	667046	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9641	312187	13	41384156	A	G	336595	Benign	Hyperornithinemia-hyperammonemia-homocitrullin...	.	.	0.42372	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9642	312189	13	41384318	A	G	319839	Benign	Hyperornithinemia-hyperammonemia-homocitrullin...	.	.	0.42372	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9643	312190	13	41384382	C	T	336610	Benign	Hyperornithinemia-hyperammonemia-homocitrullin...	.	.	0.42372	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9644	312197	13	41384732	G	C	336614	Likely_benign	Hyperornithinemia-hyperammonemia-homocitrullin...	.	.	0.05292	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9645	312204	13	41385444	G	T	319871	Likely_benign	Hyperornithinemia-hyperammonemia-homocitrullin...	.	.	0.04213	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9646	312209	13	41385658	C	A	334838	Benign	Hyperornithinemia-hyperammonemia-homocitrullin...	.	.	0.23163	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9647	312222	13	43148313	C	G	328402	Benign	Osteopetrosis	.	.	0.9988	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9648	193257	13	43148565	T	C	190421	Benign	Osteopetrosis|not_specified	0.38615	0.52363	0.46546	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9649	195202	13	43155443	G	A	192363	Benign	Osteopetrosis|not_specified	0.82485	0.81152	0.78834	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9650	312243	13	43181318	G	T	319888	Benign	Osteopetrosis	.	.	0.99461	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9651	312251	13	43182002	G	T	319894	Benign	Osteopetrosis	.	.	0.33287	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9652	226025	13	47411985	A	G	227777	drug_response	Major_depressive_disorder,_response_to_citalop...	.	.	0.72724	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9653	511089	13	47469940	G	A	504274	Likely_benign	not_specified	0.40066	0.40715	0.44129	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9654	511090	13	47471478	C	T	504813	Likely_benign	not_specified	.	.	0.44349	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9655	312254	13	48516845	G	T	319895	Likely_benign	Mitochondrial_DNA_depletion_syndrome	.	.	0.08227	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9656	312259	13	48517178	T	C	328423	Likely_benign	Mitochondrial_DNA_depletion_syndrome	.	.	0.08247	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9657	312262	13	48517289	A	G	319904	Benign	Mitochondrial_DNA_depletion_syndrome	.	.	0.94189	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9658	672631	13	48522909	T	C	667394	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9659	676449	13	48523567	T	C	667140	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9660	672630	13	48523952	C	T	666299	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9661	684103	13	48524020	T	C	666305	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9662	671130	13	48524042	A	T	667146	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9663	671617	13	48528007	A	G	666307	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9664	671999	13	48529003	C	T	667158	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9665	670147	13	48547170	A	C	666308	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9666	670146	13	48547180	C	T	667169	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9667	139360	13	48547467	A	T	143063	Benign	Mitochondrial_DNA_depletion_syndrome|not_speci...	0.74204	0.75155	0.68351	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9668	676453	13	48547663	T	C	667174	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9669	139358	13	48563008	G	A	143061	Benign	Mitochondrial_DNA_depletion_syndrome|not_speci...	0.74197	0.75152	0.68351	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9670	676421	13	48563246	A	G	666315	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9671	671225	13	48570710	T	C	667177	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9672	670145	13	48571383	C	T	666317	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9673	676448	13	48575587	G	C	667072	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9674	684102	13	48575693	G	T	667395	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9675	255825	13	48919358	T	G	254854	Benign	not_specified	0.92832	0.96075	0.91374	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9676	255823	13	49051012	C	T	254858	Benign	not_specified	0.89582	0.95521	0.88498	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9677	312343	13	52507110	G	C	319950	Benign	Wilson_disease	.	.	0.52396	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9678	680486	13	52510160	G	A	666319	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9679	254770	13	52511362	C	G	254860	Benign	not_specified|not_provided	0.57281	0.56071	0.53175	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9680	35727	13	52511606	G	A	44391	Benign/Likely_benign	Wilson_disease|not_specified|not_provided	0.54909	0.53738	0.5018	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9681	680485	13	52512888	C	T	667078	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9682	35720	13	52515354	A	G	44384	Benign	Wilson_disease|not_specified	0.57756	0.56526	0.54054	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9683	680483	13	52516230	T	C	666326	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9684	680484	13	52517955	C	T	667405	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9685	35713	13	52520507	C	T	44377	Benign/Likely_benign	Wilson_disease|not_specified	0.0529	0.05802	0.02496	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9686	35709	13	52520627	C	G	44373	Benign/Likely_benign	Wilson_disease|not_specified	0.09534	0.07199	0.11362	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9687	35708	13	52523808	C	T	44372	Benign	Wilson_disease|not_specified	0.57166	0.56269	0.53095	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9688	35707	13	52524488	T	C	44371	Benign	Wilson_disease|not_specified	0.55217	0.53844	0.5024	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9689	680481	13	52531960	C	T	667187	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9690	676098	13	52542796	T	G	667410	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9691	312405	13	52585548	G	T	336917	Benign	Wilson_disease|Congenital_disorder_of_glycosyl...	0.59505	.	0.51677	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9692	538871	13	52585881	A	G	528164	Benign	Congenital_disorder_of_glycosylation_type_1P|n...	.	.	0.07288	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9693	487323	13	52586922	T	C	463943	Likely_benign	not_provided	.	.	0.02196	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9694	312422	13	52603194	G	T	335052	Benign	Congenital_disorder_of_glycosylation	0.63286	0.64785	0.58127	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9695	312423	13	52603241	A	G	320003	Likely_benign	Congenital_disorder_of_glycosylation	0.10003	0.11199	0.08007	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9696	312426	13	52603775	C	T	320004	Benign	Congenital_disorder_of_glycosylation	0.56443	0.62881	0.51058	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9697	517823	13	60240961	C	T	504304	Benign	not_specified	0.20298	0.20412	0.14697	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9698	508094	13	60385060	A	ATTAC	504579	Benign	Auditory_neuropathy,_autosomal_dominant,_1|not...	.	.	0.92911	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9699	508609	13	60545182	G	A	505207	Benign	not_specified|not_provided	0.03069	0.02687	0.01198	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9700	683133	13	60737996	TCCGC	T	656213	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9701	130861	13	75861001	A	G	136305	Likely_benign	not_specified	0.18644	0.08323	0.17432	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9702	212373	13	75861174	G	GA	208052	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9703	130552	13	75866284	G	A	135998	Likely_benign	not_specified	0.0896	0.08198	0.03634	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9704	130550	13	75876389	G	A	135996	Likely_benign	not_specified	0.48312	0.49107	0.36921	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9705	130549	13	75884216	C	T	135995	Likely_benign	not_specified	0.76502	0.82564	0.71186	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9706	130548	13	75884290	G	A	135994	Likely_benign	not_specified	0.31973	0.35749	0.22604	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9707	130556	13	75936519	C	G	136002	Likely_benign	not_specified	0.99768	.	0.99521	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9708	130551	13	76055602	G	A	135997	Likely_benign	not_specified	0.07247	0.0967	0.11102	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9709	789220	13	77460023	G	A	713972	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9710	670727	13	77565972	A	G	666343	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9711	95396	13	77566320	C	G	101295	Benign/Likely_benign	Seizures|Neuronal_ceroid_lipofuscinosis|not_sp...	0.0226	0.02693	0.01298	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9712	768620	13	78272267	T	TGG	702735	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9713	768621	13	78272276	G	GC	702736	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9714	226622	13	78475313	T	C	230450	Benign	Waardenburg_syndrome|not_specified|Hirschsprun...	0.59743	0.5799	0.54473	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9715	226625	13	78477674	A	G	230453	Benign	not_specified	0.98493	0.99488	0.98383	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9716	506089	13	86369120	C	T	497033	Benign	not_specified	0.7661	0.72103	0.75	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9717	312529	13	93879087	G	A	337079	Benign	Omodysplasia	.	.	0.39357	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9718	312547	13	95034749	G	A	320094	Benign	Omodysplasia_1|Omodysplasia	0.15301	0.21057	0.17093	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9719	312560	13	95055795	G	GT	328645	Benign	Omodysplasia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9720	312577	13	95056768	C	T	335285	Benign	Omodysplasia	.	.	0.1891	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9721	312598	13	95059164	A	G	337158	Benign	Omodysplasia	.	.	0.1899	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9722	312602	13	95059304	G	C	328704	Benign	Omodysplasia	.	.	0.88139	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9723	225959	13	95714976	C	T	227778	drug_response	tenofovir_response_-_Metabolism/PK	0.79656	0.81214	0.79433	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9724	402794	13	99554621	G	A	390093	Benign	not_specified	0.0332	0.04482	0.03015	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9725	95446	13	100635377	C	T	101345	Benign	not_specified	0.08227	0.07992	0.04173	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9726	669662	13	100635606	G	A	667117	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9727	669947	13	100809805	A	G	667042	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9728	669953	13	100861262	C	T	666225	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9729	92765	13	100921056	A	G	98672	Benign	Propionyl-CoA_carboxylase_deficiency|not_speci...	0.9175	0.97702	0.91594	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9730	255734	13	101020695	A	G	254773	Benign	not_specified	0.6823	0.69662	0.55272	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9731	676165	13	101077774	G	A	666233	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9732	262253	13	101776954	G	A	254785	Benign	not_specified|not_provided	0.01046	0.00864	0.00399	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9733	262252	13	101795422	A	G	254786	Benign	not_specified	0.505	0.49099	0.52177	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9734	262250	13	101881777	G	A	254788	Benign	not_specified	0.28295	0.2858	0.19229	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9735	310903	13	103498198	A	G	333317	Benign	Xeroderma_pigmentosum	.	.	0.6889	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9736	310904	13	103498375	T	C	318811	Benign	Xeroderma_pigmentosum	.	.	0.29792	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9737	129009	13	103504517	T	C	134455	Benign	Xeroderma_pigmentosum|Xeroderma_pigmentosum,_g...	0.6118	0.5291	0.49301	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9738	255161	13	103524762	C	T	254793	Benign	Xeroderma_pigmentosum|Xeroderma_pigmentosum,_g...	0.43449	0.4513	0.31709	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9739	134172	13	103527849	G	C	137911	Benign	Xeroderma_pigmentosum,_group_G|not_specified	0.99746	.	0.9982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9740	134173	13	103527930	G	C	137912	not_provided	not_specified	0.99746	.	0.9972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9741	129011	13	103528002	G	C	134457	Benign	Xeroderma_pigmentosum|Xeroderma_pigmentosum,_g...	0.30578	0.27768	0.36142	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9742	310945	13	103528337	G	A	318841	Benign	Xeroderma_pigmentosum	.	.	0.54952	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9743	403446	13	103705044	A	C	390031	Benign	not_specified	0.89243	0.86099	0.84026	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9744	310948	13	108859846	C	T	318850	Likely_benign	Lig4_syndrome|Severe_combined_immunodeficiency...	.	.	0.12979	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9745	8820	13	110435231	C	T	23859	risk_factor	DIABETES,_TYPE_II,_SUSCEPTIBILITY_TO	.	0.38205	0.28335	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9746	768633	13	110435302	T	C	702582	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9747	258255	13	110813709	G	A	254798	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.35676	0.37559	0.30791	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9748	197520	13	110818598	T	G	194681	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.32124	.	0.28834	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9749	258251	13	110827574	T	A	254801	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.33592	0.3515	0.31789	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9750	258250	13	110827580	C	T	254802	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.33592	.	0.31809	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9751	258249	13	110833702	C	T	254803	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.32162	0.34768	0.30711	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9752	258248	13	110835460	C	T	254804	Benign	not_specified	0.10529	0.11525	0.08167	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9753	258247	13	110839550	T	G	254805	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9754	258266	13	110857823	C	T	254807	Benign	not_specified	0.56858	0.61933	0.59345	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9755	258265	13	110857895	A	G	254808	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.57012	0.62224	0.59645	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9756	258262	13	110859743	C	T	254810	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.56866	0.62105	0.59605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9757	258261	13	110861785	C	G	254811	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.85008	.	0.86122	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9758	258254	13	110864225	A	T	254813	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.43957	0.46723	0.47284	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9759	198472	13	110864264	C	T	195633	Benign/Likely_benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.00484	0.00719	0.00659	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9760	258264	13	110895092	A	G	254814	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	0.25588	0.19072	0.1899	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9761	193216	13	110959356	C	G	190381	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	.	0.48236	0.42412	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9762	311087	13	110959464	C	A	335235	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	.	.	0.248	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9763	311089	13	110959643	A	C	333543	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	.	.	0.61502	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9764	311090	13	110959688	C	G	327337	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	.	.	0.30891	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9765	311091	13	110959705	C	T	327338	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	.	.	0.50939	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9766	311092	13	110959717	T	C	333546	Benign	Porencephalic_cyst|Angiopathy,_hereditary,_wit...	.	.	0.30611	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9767	311096	13	111077197	G	A	335259	Benign	Porencephalic_cyst	0.93271	0.96135	0.94269	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9768	311117	13	111098226	C	T	333580	Benign	Porencephalic_cyst|not_provided	0.48987	0.51372	0.48283	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9769	311119	13	111102042	G	A	333585	Benign	Porencephalic_cyst|not_provided	0.26285	0.31443	0.23862	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9770	311120	13	111102126	C	T	318936	Benign	Porencephalic_cyst|not_provided	0.28476	0.33824	0.24681	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9771	311128	13	111111173	G	A	333595	Benign	Porencephalic_cyst|not_provided	0.62097	0.52883	0.49141	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9772	311129	13	111111235	G	A	333604	Benign	Porencephalic_cyst|not_provided	0.63458	0.53895	0.50919	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9773	311134	13	111117745	C	T	333615	Benign	Porencephalic_cyst|not_provided	0.6132	0.53833	0.51398	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9774	311145	13	111121620	C	T	318982	Benign	Porencephalic_cyst|not_provided	0.23106	0.25539	0.1909	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9775	311151	13	111132556	C	T	335312	Benign	Porencephalic_cyst|not_provided	0.23988	0.31003	0.24641	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9776	311153	13	111137240	A	G	327386	Benign	Porencephalic_cyst|not_provided	0.13124	0.15696	0.1258	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9777	311171	13	111155779	G	A	333642	Benign	Porencephalic_cyst|not_provided	0.24198	.	0.1863	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9778	311180	13	111158874	A	G	333651	Benign	Porencephalic_cyst|not_provided	0.87092	0.83291	0.752	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9779	311183	13	111160304	G	A	319027	Benign	Porencephalic_cyst|not_provided	0.08723	0.10098	0.10084	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9780	311188	13	111164266	C	T	335349	Likely_benign	Porencephalic_cyst	0.00424	0.00135	0.00559	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9781	311190	13	111164274	T	C	327437	Benign/Likely_benign	Porencephalic_cyst|not_provided	0.00433	0.00136	0.00559	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9782	311200	13	111164614	T	C	327453	Benign	Porencephalic_cyst	.	.	0.46625	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9783	311201	13	111164628	TAA	T	335357	Benign	Porencephalic_cyst	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9784	683459	13	111315506	A	C	666983	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9785	683458	13	111315551	A	G	667067	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9786	683456	13	111316043	G	C	667070	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9787	683455	13	111316061	C	T	666992	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9788	379949	13	111319754	T	C	372639	Benign	not_specified	0.7748	0.8022	0.76238	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9789	683447	13	111354110	T	C	667351	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9790	256307	13	113792754	T	C	254819	Benign	not_specified	0.78645	0.8359	0.80272	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9791	256308	13	113801737	C	T	254820	Benign	Factor_X_deficiency|not_specified	0.73912	.	0.6232	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9792	138729	14	20940515	C	T	142432	Benign/Likely_benign	Purine-nucleoside_phosphorylase_deficiency|not...	0.18122	0.1664	0.17213	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9793	13992	14	20940606	G	A	29031	Benign	NUCLEOSIDE_PHOSPHORYLASE_POLYMORPHISM|Purine-n...	.	0.19196	0.20467	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9794	138730	14	20940626	C	T	142433	Benign/Likely_benign	Purine-nucleoside_phosphorylase_deficiency|not...	0.19829	0.19324	0.20447	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9795	312730	14	20942744	A	G	320249	Benign	Purine-nucleoside_phosphorylase_deficiency|not...	0.24089	0.19433	0.20228	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9796	312745	14	20945488	T	C	328812	Benign	Purine-nucleoside_phosphorylase_deficiency	.	.	0.97744	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9797	312749	14	20945817	T	C	335445	Likely_benign	Purine-nucleoside_phosphorylase_deficiency	.	.	0.03714	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9798	312750	14	20945864	T	TG	328815	Likely_benign	Purine-nucleoside_phosphorylase_deficiency	.	.	0.17033	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9799	312751	14	20945906	A	C	337323	Likely_benign	Purine-nucleoside_phosphorylase_deficiency	.	.	0.20527	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9800	312758	14	20946151	T	C	328851	Benign	Purine-nucleoside_phosphorylase_deficiency	.	.	0.32228	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9801	312768	14	21152604	C	A	320277	Likely_benign	Amyotrophic_Lateral_Sclerosis,_Dominant	.	.	0.09784	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9802	99827	14	21770730	A	G	105716	Benign	Leber_congenital_amaurosis|not_specified|Cone-...	0.48248	0.54801	0.47724	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9803	4987	14	21790040	G	T	20026	Benign/Likely_benign	Leber_congenital_amaurosis|Cone-rod_dystrophy_...	.	0.21049	0.16733	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9804	99812	14	21792811	G	A	105701	Benign/Likely_benign	Leber_congenital_amaurosis|not_specified|Cone-...	0.23137	0.21258	0.1847	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9805	261227	14	21793236	G	A	254910	Benign/Likely_benign	Leber_congenital_amaurosis|not_specified|Cone-...	0.21419	0.19715	0.14517	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9806	261228	14	21796784	G	C	254911	Benign	Leber_congenital_amaurosis|not_specified|Cone-...	0.26376	0.33731	0.29533	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9807	587786	14	21871653	C	T	579920	Benign	History_of_neurodevelopmental_disorder	0.94097	0.90926	0.90735	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9808	403461	14	23240713	T	TAGC	390596	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9809	139197	14	23242828	T	C	142900	Benign	Lysinuric_protein_intolerance|not_specified	0.76918	0.8651	0.78554	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9810	684066	14	23247687	T	C	667572	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9811	380186	14	23282336	G	A	373723	Benign	Lysinuric_protein_intolerance|not_specified	0.0143	0.01225	0.00419	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9812	139198	14	23282449	C	T	142901	Benign	Lysinuric_protein_intolerance|not_specified	0.56243	0.6073	0.60603	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9813	684063	14	23282908	T	TGCAA	666498	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9814	312832	14	23284572	A	G	337424	Benign	Lysinuric_protein_intolerance	.	0.52939	0.57808	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9815	312835	14	23288935	C	G	335556	Likely_benign	Lysinuric_protein_intolerance	.	.	0.11701	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9816	312838	14	23288953	A	G	335564	Likely_benign	Lysinuric_protein_intolerance	.	.	0.11701	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9817	258710	14	23856896	A	G	254919	Benign	not_specified	0.46778	0.49574	0.47165	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9818	36628	14	23858271	AG	A	45290	Conflicting_interpretations_of_pathogenicity	Atrial_septal_defect|Cardiomyopathy|Hypertroph...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9819	44544	14	23872666	T	C	53711	Benign/Likely_benign	Atrial_septal_defect|Hypertrophic_cardiomyopat...	0.82808	0.75651	0.78494	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9820	188649	14	23882043	C	T	186460	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Scapuloperoneal_my...	0.00484	0.00496	0.0014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9821	667619	14	23897466	G	A	667431	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9822	43116	14	23899793	G	A	52286	Benign	Cardiomyopathy|Hypertrophic_cardiomyopathy|Sca...	0.02099	0.02085	0.01458	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9823	42869	14	23902753	G	A	52039	Benign	Cardiomyopathy|Hypertrophic_cardiomyopathy|Sca...	0.52753	0.48885	0.52037	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9824	312935	14	24550224	C	T	335678	Likely_benign	Retinitis_Pigmentosa,_Dominant	.	.	0.41713	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9825	803011	14	24567498	A	C	791396	Benign	Phosphoenolpyruvate_carboxykinase_deficiency,_...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9826	769857	14	25101548	G	A	702849	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9827	769858	14	25101589	G	C	702850	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9828	769859	14	25101629	T	C	702851	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9829	177681	14	31347012	T	C	176082	Benign	not_specified|not_provided	.	.	0.21386	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9830	226525	14	31355096	C	G	230521	Benign	Deafness,_autosomal_dominant_9|not_specified|N...	0.51199	0.54915	0.41134	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9831	226528	14	31355527	C	A	230525	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.04342	0.06591	0.07169	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9832	669811	14	31535057	A	G	667323	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9833	680071	14	31541938	CAAGT	C	667452	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9834	683212	14	32047450	C	A	667453	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9835	683233	14	32068215	A	G	666544	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9836	671489	14	32068242	A	C	666547	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9837	683234	14	32142930	A	G	667455	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9838	669937	14	32256711	A	G	666548	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9839	683237	14	32296156	G	A	667460	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9840	669941	14	32319562	A	G	667648	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9841	669526	14	32328164	G	T	666554	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9842	313032	14	32328508	G	C	337651	Likely_benign	Mitochondrial_complex_I_deficiency	.	.	0.0625	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9843	313046	14	32329381	T	C	329185	Benign	Mitochondrial_complex_I_deficiency	.	.	0.60503	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9844	313067	14	32330071	A	G	337727	Benign	Mitochondrial_complex_I_deficiency	.	.	0.48602	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9845	313068	14	32330080	G	A	320435	Benign	Mitochondrial_complex_I_deficiency	.	.	0.48602	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9846	313072	14	32330260	A	G	329216	Benign	Mitochondrial_complex_I_deficiency	.	.	0.4976	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9847	313079	14	35180033	C	A	335822	Benign	Nemaline_Myopathy,_Recessive	.	0.24689	0.27596	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9848	313082	14	35180389	T	A	320449	Benign	Nemaline_Myopathy,_Recessive	.	0.41304	0.34205	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9849	313083	14	35180677	AT	A	329225	Benign	Nemaline_Myopathy,_Recessive	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9850	313088	14	35181146	A	G	337734	Benign	Nemaline_Myopathy,_Recessive	.	0.24622	0.27616	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9851	313094	14	35181786	T	C	329237	Benign	Nemaline_Myopathy,_Recessive	.	0.2563	0.3099	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9852	673808	14	35183213	T	C	667337	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9853	681265	14	35183888	C	G	667658	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9854	668881	14	35184228	C	T	667664	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9855	668071	14	35184246	T	C	667472	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9856	6796	14	35761675	C	G	21835	risk_factor	Myocardial_infarction	0.13094	.	0.1903	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9857	313105	14	35871093	C	T	337761	Benign	Ectodermal_dysplasia_and_immunodeficiency_2|no...	.	.	0.45567	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9858	313108	14	35871217	G	A	329242	Benign	Ectodermal_dysplasia_and_immunodeficiency_2|no...	0.44487	0.4011	0.44788	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9859	313117	14	35873770	G	A	329256	Benign	Ectodermal_dysplasia_and_immunodeficiency_2|no...	0.22869	0.34309	0.24441	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9860	313128	14	36986022	CA	CAA,C	335868	Uncertain_significance	Benign_hereditary_chorea|Choreoathetosis,_hypo...	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9861	313133	14	36986273	A	T	320501	Benign	Benign_hereditary_chorea|Choreoathetosis,_hypo...	.	.	0.62181	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9862	313149	14	36989419	C	A	329293	Benign	Benign_hereditary_chorea|Choreoathetosis,_hypo...	.	.	0.10803	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9863	313152	14	37126871	A	AC	337831	Likely_benign	Selective_tooth_agenesis	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9864	313155	14	37127044	C	G	337835	Likely_benign	Selective_tooth_agenesis	.	.	0.3762	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9865	259937	14	37135753	G	C	254940	Benign/Likely_benign	Selective_tooth_agenesis|Tooth_agenesis,_selec...	0.31672	0.43249	0.33167	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9866	683729	14	39556185	G	C	656251	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9867	261385	14	45645715	A	G	254947	Benign/Likely_benign	Fanconi_anemia|not_specified	0.02068	0.02531	0.01298	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9868	261391	14	45665661	A	G	254952	Benign/Likely_benign	Fanconi_anemia|not_specified	0.02076	.	0.00859	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9869	313249	14	50087753	T	C	320629	Benign	Primary_ciliary_dyskinesia|Congenital_disorder...	.	0.4935	0.29533	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9870	313270	14	50091932	T	A	329433	Benign	Primary_ciliary_dyskinesia|Congenital_disorder...	.	.	0.54153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9871	163091	14	50092471	T	C	175940	Benign	Primary_ciliary_dyskinesia|Congenital_disorder...	0.42073	0.451	0.30871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9872	261017	14	50094913	C	A	254955	Benign	not_specified	0.72531	0.6384	0.54193	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9873	95892	14	50100386	T	C	101788	Benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	0.66636	0.64859	0.48822	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9874	95891	14	50100683	C	G	101787	Benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	.	0.61346	0.5591	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9875	95894	14	50101370	G	A	101790	Benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	0.68525	0.65251	0.49341	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9876	95893	14	50101682	C	G	101789	Benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	0.71338	.	0.49321	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9877	517059	14	50585574	C	CA	505456	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9878	561523	14	50596862	T	C	552772	Benign	not_provided	.	.	0.85383	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9879	561524	14	50597012	T	C	552774	Benign	not_provided	.	.	0.53015	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9880	561606	14	50601078	C	T	552781	Benign	not_provided	.	.	0.24141	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9881	561604	14	50605158	C	T	552786	Benign	not_provided	.	.	0.84445	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9882	561838	14	50606384	A	G	552787	Benign	not_provided	.	.	0.85344	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9883	561605	14	50606434	T	C	552788	Benign	not_provided	.	.	0.2514	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9884	561538	14	50606897	A	G	552791	Benign	not_provided	.	.	0.88478	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9885	561518	14	50611845	C	T	552792	Benign	not_provided	0.86271	0.87162	0.85344	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9886	561537	14	50612401	T	C	552793	Benign	not_provided	.	.	0.83387	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9887	561603	14	50612414	C	T	552794	Benign	not_provided	.	.	0.85344	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9888	561602	14	50612457	C	T	552795	Benign	not_provided	.	.	0.83387	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9889	384710	14	50616878	G	A	376065	Benign	not_provided	0.60795	0.62145	0.51837	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9890	561601	14	50619927	A	G	552796	Benign	not_provided	0.31342	.	0.2472	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9891	561632	14	50625194	TTGAG	T	552800	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9892	561599	14	50626836	C	T	552804	Benign	not_provided	0.86229	0.87161	0.85304	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9893	561871	14	50627934	G	A	552806	Benign	not_provided	.	.	0.52276	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9894	561836	14	50627948	C	T	552807	Benign	not_provided	.	.	0.89317	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9895	561597	14	50628481	C	A	552808	Benign	not_provided	.	.	0.99481	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9896	561531	14	50641347	T	G	552812	Benign	not_provided	.	.	0.89257	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9897	561868	14	50654921	G	A	552824	Benign	not_provided	.	.	0.2472	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9898	561835	14	50654949	C	T	552825	Benign	not_provided	.	.	0.83706	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9899	561593	14	50655146	CTATT	C	552827	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9900	561541	14	50666263	C	T	552830	Benign	not_provided	.	.	0.53614	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9901	561590	14	50667526	G	A	552832	Benign	not_provided	.	.	0.85204	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9902	561865	14	50668067	G	A	552834	Benign	not_provided	.	.	0.248	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9903	561519	14	50670965	G	C	552835	Benign	not_provided	0.88225	0.88328	0.85783	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9904	383779	14	50671133	A	G	376072	Benign	not_provided	0.31876	0.34372	0.24201	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9905	158797	14	50732042	G	A	169064	Likely_benign	not_specified	0.3593	0.43767	0.41713	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9906	158801	14	50750577	A	G	169066	Likely_benign	not_specified	0.49962	0.53959	0.50479	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9907	158798	14	50769717	G	A	169068	Benign/Likely_benign	not_specified|not_provided	0.57427	0.5701	0.59665	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9908	158799	14	50778816	A	C	169070	Benign/Likely_benign	not_specified|not_provided	0.56319	0.59991	0.57268	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9909	678056	14	51000140	A	T	666568	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9910	678057	14	51000145	G	A	667341	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9911	21530	14	51057727	G	A	34382	Benign	Spastic_paraplegia_3|not_specified|Spastic_par...	0.79586	0.76327	0.82149	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9912	678058	14	51060452	A	G	667345	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9913	670498	14	51062162	G	A	667348	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9914	670499	14	51062455	G	A	667481	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9915	678059	14	51081449	C	T	666571	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9916	668735	14	51081515	C	T	666574	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9917	670500	14	51087263	A	G	667665	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9918	678069	14	51087689	G	A	667486	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9919	678070	14	51089727	G	T	666578	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9920	678071	14	51090102	C	CAT	667670	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9921	678072	14	51090115	T	G	667349	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9922	670501	14	51096610	G	GTTCTT	667356	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9923	129797	14	51204996	C	T	135243	Likely_benign	not_specified	0.57789	0.50442	0.50879	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9924	129796	14	51206021	A	G	135242	Likely_benign	not_specified	0.99131	0.99757	0.99261	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9925	194884	14	51223789	C	T	192046	Benign	Seckel_syndrome_7|not_specified	0.79225	0.74536	0.76438	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9926	281107	14	51224374	T	G	265344	Benign	Seckel_syndrome_7|not_specified	0.80763	0.75326	0.78494	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9927	129787	14	51224417	G	C	135233	Likely_benign	not_specified	0.20091	0.22719	0.1863	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9928	129784	14	51225097	T	C	135230	Likely_benign	not_specified	0.01499	0.01605	0.00899	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9929	129779	14	51237701	A	G	135225	Likely_benign	not_specified	0.50331	0.62067	0.57728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9930	129803	14	51239067	C	G	135249	Likely_benign	not_specified	0.9907	.	0.99241	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9931	258828	14	51372098	CA	C	254969	Benign	Glycogen_storage_disease,_type_VI|not_specifie...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9932	258829	14	51372103	C	G	254970	Benign	Glycogen_storage_disease,_type_VI|not_specifie...	0.15009	0.23569	0.251	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9933	258838	14	51375699	T	TA	254975	Likely_benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9934	194627	14	51378590	CT	C	191790	Benign	Glycogen_storage_disease,_type_VI|not_specifie...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9935	258830	14	51383432	G	A	254983	Benign	Glycogen_storage_disease,_type_VI|not_specifie...	0.13817	0.22529	0.23542	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9936	668115	14	53521648	G	A	667674	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9937	679273	14	53522806	A	G	667358	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9938	379963	14	53529669	A	T	374264	Benign	not_specified	0.76834	.	0.81769	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9939	679272	14	53540249	A	G	666585	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9940	379962	14	53619463	G	A	376096	Benign	not_specified	.	0.84551	0.7522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9941	221131	14	53619480	T	TGCCGCC	222375	Benign	not_specified|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9942	379960	14	53619544	G	A	374268	Benign	not_specified	0.70383	.	0.7504	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9943	197190	14	54417522	A	G	194351	Benign/Likely_benign	Microphthalmia_syndromic_6|Orofacial_cleft|not...	0.45002	0.45702	0.32568	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9944	430718	14	55222475	T	C	424257	association	Lip_and_oral_cavity_carcinoma	.	.	0.40296	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9945	313367	14	55309505	G	A	320709	Benign	GTP_cyclohydrolase_I_deficiency|Dystonia,_dopa...	.	.	0.03375	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9946	313378	14	55310003	T	C	336167	Benign	GTP_cyclohydrolase_I_deficiency|Dystonia,_dopa...	.	.	0.07408	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9947	313404	14	55369502	A	G	336185	Benign	GTP_cyclohydrolase_I_deficiency|Dystonia,_dopa...	.	.	0.94569	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9948	803031	14	58937416	T	C	791416	Benign	Joubert_syndrome_23	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9949	313426	14	60975956	T	C	329589	Benign	Anophthalmia_-_microphthalmia	.	.	0.82488	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9950	260163	14	60976537	C	A	254993	Benign	Cataract,_microphthalmia_and_nystagmus|not_spe...	0.43564	0.51526	0.34145	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9951	313436	14	60978071	C	G	329623	Benign	Anophthalmia_-_microphthalmia	.	.	0.80332	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9952	313450	14	61112234	TA	T	338147	Benign	Branchiootorenal_Spectrum_Disorders|Nonsyndrom...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9953	313459	14	61112667	G	C	338171	Benign	Branchiootorenal_Spectrum_Disorders|Nonsyndrom...	.	.	0.77117	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9954	130501	14	64491695	T	C	135947	Benign	Emery-Dreifuss_muscular_dystrophy|not_specifie...	0.74061	0.81178	0.67891	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9955	130503	14	64494278	C	T	135949	Benign	Emery-Dreifuss_muscular_dystrophy|not_specified	0.8124	.	0.752	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9956	130504	14	64496749	C	T	135950	Benign	Emery-Dreifuss_muscular_dystrophy|not_specified	0.74105	0.81219	0.67193	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9957	130508	14	64497930	G	A	135954	Benign	Emery-Dreifuss_muscular_dystrophy|not_specified	0.76882	0.82093	0.70248	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9958	130511	14	64498037	G	A	135957	Benign	Emery-Dreifuss_muscular_dystrophy|not_specified	0.87807	0.89238	0.83726	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9959	130513	14	64519035	A	G	135959	Benign	Emery-Dreifuss_muscular_dystrophy|Emery-Dreifu...	0.91241	0.90676	0.86182	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9960	130516	14	64519455	A	G	135962	Benign	Emery-Dreifuss_muscular_dystrophy|not_specified	0.72288	.	0.66514	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9961	130520	14	64522674	G	C	135966	Benign	Emery-Dreifuss_muscular_dystrophy|not_specifie...	0.73999	0.80763	0.68131	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9962	130521	14	64522843	A	G	135967	Benign	Emery-Dreifuss_muscular_dystrophy|not_specified	0.74131	.	0.68231	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9963	130488	14	64656855	T	C	135934	Benign	Emery-Dreifuss_muscular_dystrophy|Emery-Dreifu...	0.49185	0.3943	0.48702	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9964	130489	14	64681193	C	T	135935	Benign	Emery-Dreifuss_muscular_dystrophy|Emery-Dreifu...	0.50846	0.47016	0.58327	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9965	130490	14	64686125	G	T	135936	Benign	Emery-Dreifuss_muscular_dystrophy|not_specified	0.26065	0.24095	0.20967	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9966	281196	14	64688175	G	C	265433	Benign	not_specified|not_provided	.	.	0.6883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9967	313681	14	64692630	G	C	320910	Benign	Emery-Dreifuss_muscular_dystrophy	.	.	0.6895	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9968	313684	14	64692825	G	A	329957	Benign	Emery-Dreifuss_muscular_dystrophy	.	.	0.6909	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9969	403114	14	64882380	A	G	390190	Benign	not_specified	0.83154	0.83308	0.82348	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9970	13633	14	64908845	G	A	28672	Benign	Neural_tube_defects,_folate-sensitive,_suscept...	.	0.4354	0.34185	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9971	257120	14	65245863	C	G	255009	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.36245	.	0.41054	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9972	257119	14	65245956	C	T	255010	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.36376	0.28092	0.41154	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9973	257118	14	65245962	A	G	255011	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.36191	0.28136	0.41194	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9974	257117	14	65246623	T	C	255012	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.42357	0.34944	0.44509	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9975	257115	14	65249052	C	G	255014	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.06189	.	0.10164	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9976	257108	14	65253232	T	C	255019	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.40443	0.33811	0.46945	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9977	257102	14	65260227	T	G	255024	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.46002	0.39165	0.45028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9978	257098	14	65263300	C	T	255027	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.43634	0.38036	0.46685	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9979	257097	14	65263347	C	T	255028	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.25258	0.26385	0.28135	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9980	257138	14	65267469	T	C	255029	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.38006	0.32605	0.3734	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9981	257106	14	65271650	A	G	255034	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.42765	0.36932	0.46605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9982	257099	14	65271780	G	A	255035	Benign/Likely_benign	Elliptocytosis|not_specified|Spherocytosis,_Do...	0.04375	0.05344	0.06809	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9983	313793	14	65542067	C	G	330076	Benign	Pheochromocytoma	.	.	0.51338	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9984	313801	14	65542607	C	T	338566	Benign	Pheochromocytoma	.	.	0.54593	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9985	313802	14	65542629	C	T	338569	Benign	Pheochromocytoma	.	.	0.51478	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9986	313807	14	65542790	G	A	320994	Benign	Pheochromocytoma	.	.	0.51178	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9987	676931	14	65544450	C	T	667677	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9988	402887	14	66028446	A	G	390197	Benign	not_specified|not_provided	0.69948	0.70457	0.75679	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9989	261355	14	67147816	T	C	255036	Benign	not_specified	0.31413	0.26611	0.45028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9990	313851	14	68213571	C	T	330125	Benign	Spastic_Paraplegia,_Recessive	.	.	0.95008	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9991	313852	14	68213744	G	A	321033	Benign	Spastic_Paraplegia,_Recessive	.	.	0.95008	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9992	313853	14	68213792	A	G	336646	Benign	Spastic_Paraplegia,_Recessive	.	.	0.3135	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9993	313866	14	68214788	T	C	338611	Benign	Spastic_Paraplegia,_Recessive	.	.	0.49401	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9994	130783	14	68234539	T	C	136229	Benign	not_specified|Spastic_Paraplegia,_Recessive|no...	0.94172	0.95458	0.90316	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9995	669987	14	68234845	T	C	667498	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9996	670343	14	68236522	G	A	667369	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9997	667592	14	68238499	T	G	667370	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9998	669979	14	68243075	C	A	666593	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
9999	313905	14	68250112	G	A	338688	Benign/Likely_benign	not_specified|Spastic_Paraplegia,_Recessive|no...	0.03629	0.01389	0.02716	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10000	669978	14	68250514	A	C	667503	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10001	695138	14	68264867	A	G	684516	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10002	678188	14	68270680	G	C	666604	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10003	669974	14	68273812	T	C	667511	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10004	257188	14	70418881	G	A	255038	Benign	not_specified	0.18722	0.2497	0.21705	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10005	257189	14	70477508	C	T	255039	Benign	not_specified	0.13678	0.20125	0.20567	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10006	257190	14	70478183	C	A	255040	Benign	not_specified	0.01015	0.20068	0.20567	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10007	254714	14	73664853	G	T	255043	Benign	not_specified	0.61933	0.62799	0.67153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10008	313956	14	73686361	T	C	338754	Likely_benign	Early-Onset_Familial_Alzheimer_Disease|Dilated...	.	.	0.02117	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10009	313960	14	73686944	G	A	330249	Likely_benign	Early-Onset_Familial_Alzheimer_Disease|Dilated...	.	.	0.14597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10010	313962	14	73687144	C	T	336732	Likely_benign	Early-Onset_Familial_Alzheimer_Disease|Dilated...	.	.	0.67033	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10011	684519	14	74041748	A	G	672091	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10012	314060	14	74165101	A	T	321179	Benign	Primary_ciliary_dyskinesia	.	.	0.86661	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10013	314069	14	74165516	A	G	321192	Benign	Primary_ciliary_dyskinesia	.	.	0.86661	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10014	314082	14	74166590	A	C	321202	Likely_benign	Primary_ciliary_dyskinesia	.	.	0.03654	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10015	314084	14	74166821	G	A	321205	Likely_benign	Primary_ciliary_dyskinesia	.	.	0.28275	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10016	314091	14	74167061	GA	G	321210	Benign	Primary_ciliary_dyskinesia	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10017	314095	14	74167371	C	T	321215	Likely_benign	Primary_ciliary_dyskinesia	.	.	0.09225	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10018	314110	14	74168625	G	A	321229	Benign	Primary_ciliary_dyskinesia	.	.	0.86621	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10019	314142	14	74169649	C	CA	321236	Uncertain_significance	Primary_ciliary_dyskinesia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10020	314149	14	74169995	C	T	321248	Benign	Primary_ciliary_dyskinesia	.	.	0.86661	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10021	314153	14	74170321	G	A	338910	Likely_benign	Primary_ciliary_dyskinesia	.	.	0.29553	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10022	683565	14	74419825	G	A	667526	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10023	669472	14	74422843	T	C	667703	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10024	683566	14	74422923	T	C	667704	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10025	128835	14	74424938	T	C	134283	Benign	not_specified|not_provided	0.30301	0.32813	0.1849	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10026	136982	14	74428286	A	G	140685	Benign	not_specified	0.83415	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10027	128834	14	74428445	G	A	134282	Benign	not_specified|not_provided	0.38452	0.43463	0.34545	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10028	314161	14	74526942	A	G	321265	Benign	Methylmalonate_semialdehyde_dehydrogenase_defi...	.	.	0.32248	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10029	314165	14	74527190	A	G	338925	Benign	Methylmalonate_semialdehyde_dehydrogenase_defi...	.	.	0.24161	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10030	314166	14	74527203	G	A	321269	Benign	Methylmalonate_semialdehyde_dehydrogenase_defi...	.	.	0.99301	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10031	314178	14	74537885	T	G	338938	Benign	Methylmalonate_semialdehyde_dehydrogenase_defi...	0.3932	0.4111	0.53674	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10032	167840	14	74711883	C	T	178152	Benign	Microphthalmia,_isolated_6|not_specified|VSX2-...	0.38836	0.42166	0.25998	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10033	259619	14	74759006	C	T	255050	Benign	not_specified	0.30724	0.32759	0.27037	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10034	259622	14	74759301	G	T	255051	Benign	not_specified	0.29925	0.32435	0.26298	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10035	259621	14	74759477	C	T	255052	Benign	not_specified	0.30747	0.32852	0.27037	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10036	259620	14	74766352	A	G	255053	Benign	METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_cbl...	0.29902	.	0.26258	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10037	314254	14	74966763	G	A	337136	Likely_benign	Primary_congenital_glaucoma|Weill-Marchesani_s...	.	.	0.29992	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10038	770997	14	75230654	T	A	702989	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10039	314328	14	75469634	A	G	330581	Uncertain_significance	Leukoencephalopathy_with_vanishing_white_matter	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10040	260365	14	75470446	C	A	255061	Benign	not_specified	0.98447	0.99563	0.98602	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10041	314342	14	75476071	G	C	339147	Benign/Likely_benign	Lynch_syndrome|Leukoencephalopathy_with_vanish...	.	.	0.51757	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10042	314345	14	75480637	T	C	337219	Benign/Likely_benign	Lynch_syndrome|Leukoencephalopathy_with_vanish...	.	.	0.36522	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10043	314351	14	75481368	C	T	339162	Likely_benign	Lynch_syndrome	.	.	0.34525	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10044	314356	14	75481908	A	G	337227	Likely_benign	Lynch_syndrome	.	.	0.33566	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10045	314361	14	75482443	AG	A	330620	Likely_benign	Lynch_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10046	314364	14	75482827	CG	AT	321382	Uncertain_significance	Lynch_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10047	257253	14	75483812	T	C	255063	Benign/Likely_benign	Lynch_syndrome|not_specified	0.50192	0.56344	0.58007	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10048	257252	14	75513828	G	A	255064	Benign/Likely_benign	Lynch_syndrome|not_specified	0.44264	0.41264	0.36382	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10049	257251	14	75513883	T	C	255065	Benign/Likely_benign	Lynch_syndrome|not_specified	0.98877	0.9968	0.99042	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10050	314404	14	76045193	GTC	G	339228	Benign	Proliferative_vasculopathy_and_hydranencephaly...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10051	95817	14	76045691	C	T	101714	Benign/Likely_benign	Proliferative_vasculopathy_and_hydranencephaly...	0.17523	0.16758	0.17931	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10052	677189	14	76156609	C	T	656263	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10053	677190	14	76201482	G	T	667379	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10054	677191	14	76232398	T	C	666618	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10055	683994	14	76429369	C	A	667710	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10056	683992	14	76431674	T	C	667392	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10057	314470	14	76543004	G	A	337337	Benign	Cranioectodermal_dysplasia	0.2495	0.26074	0.16893	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10058	45002	14	76957887	T	C	54169	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.99631	0.99862	0.99281	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10059	314496	14	76967707	T	C	337357	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	0.39996	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10060	314507	14	77741394	T	C	321465	Likely_benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.29133	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10061	314519	14	77741971	G	T	339428	Likely_benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.10943	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10062	314520	14	77741977	C	T	321479	Benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.85224	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10063	314525	14	77742203	T	C	337398	Likely_benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.14836	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10064	314526	14	77742218	C	T	339435	Benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.85583	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10065	314531	14	77742582	C	T	321492	Benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.51158	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10066	314536	14	77742929	C	T	337416	Benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.51098	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10067	314545	14	77743132	C	T	330773	Likely_benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.14437	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10068	314552	14	77743644	G	A	339471	Likely_benign	Limb-Girdle_Muscular_Dystrophy,_Recessive	.	.	0.26857	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10069	166901	14	77745193	A	C	177616	Benign	not_specified	0.81947	0.81764	0.84705	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10070	668039	14	77745376	G	A	667724	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10071	260297	14	77746310	G	A	255069	Benign/Likely_benign	not_specified|not_provided	0.12179	.	0.17851	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10072	671546	14	77749874	G	A	666659	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10073	670967	14	77750057	T	G	667746	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10074	674164	14	77751238	G	A	666664	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10075	673022	14	77751688	A	G	667749	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10076	668036	14	77751729	T	C	667760	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10077	166906	14	77751925	C	T	177620	Benign	not_specified	0.828	0.82082	0.85823	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10078	260290	14	77755221	T	G	255076	Benign	not_specified|not_provided	0.52161	.	0.47644	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10079	95533	14	77757743	G	A	101432	Benign	not_specified	.	0.07969	0.11042	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10080	683960	14	77762872	C	T	667544	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10081	683955	14	77764771	G	A	667766	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10082	673021	14	77764820	T	C	666670	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10083	668016	14	77767382	A	G	666673	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10084	673020	14	77778485	T	C	667779	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10085	95536	14	77786863	C	A	101435	Benign/Likely_benign	not_specified|Limb-Girdle_Muscular_Dystrophy,_...	0.04199	0.12305	0.08307	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10086	314565	14	77787148	C	T	321504	Benign/Likely_benign	Limb-Girdle_Muscular_Dystrophy,_Recessive|not_...	.	.	0.05212	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10087	194886	14	77896048	C	T	192048	Benign	not_specified|not_provided	0.00577	0.00634	0.00319	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10088	314584	14	77973953	G	GCA	330820	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.85124	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10089	314585	14	77973982	T	C	321535	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.94509	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10090	314589	14	77974181	C	A	330822	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.59625	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10091	314603	14	77974990	C	T	330839	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.76897	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10092	314604	14	77975015	A	T	321542	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.94748	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10093	314606	14	77975103	T	G	337479	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.77616	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10094	314628	14	77976325	T	C	330855	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	.	.	0.76058	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10095	670140	14	77984573	C	T	667550	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10096	670586	14	77987958	C	A	667792	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10097	670138	14	78018246	T	C	667429	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10098	670570	14	78018614	C	T	666680	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10099	670569	14	78023519	C	G	667440	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10100	670137	14	78023714	A	G	667563	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10101	314672	14	78028803	A	G	330884	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.83385	0.90294	0.83746	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10102	670136	14	78029082	C	T	667565	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10103	667523	14	78036394	G	A	667568	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10104	670568	14	78036899	AG	A	667802	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10105	670567	14	78036935	A	G	667443	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10106	314681	14	78082952	C	A	337525	Benign	Hereditary_sensory_and_autonomic_neuropathy_ty...	0.01665	.	0.02776	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10107	667522	14	78083349	C	T	667808	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10108	674092	14	78709814	T	C	667570	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10109	255954	14	81574687	T	TTCTC	255094	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10110	135403	14	81575005	C	A	139142	not_provided	not_specified	0.64247	.	0.61022	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10111	135400	14	81610583	G	C	139139	Benign/Likely_benign	Congenital_hypothyroidism|Hyperthyroidism,_non...	0.92334	0.90038	0.89677	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10112	314705	14	81610942	C	T	339647	Likely_benign	Congenital_hypothyroidism|Hyperthyroidism,_non...	.	.	0.84325	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10113	314708	14	81611128	T	C	339648	Likely_benign	Congenital_hypothyroidism|Hyperthyroidism,_non...	.	.	0.28435	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10114	314711	14	81611606	C	T	337591	Likely_benign	Congenital_hypothyroidism|Hyperthyroidism,_non...	.	.	0.15575	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10115	314716	14	81611919	G	C	330908	Likely_benign	Congenital_hypothyroidism|Hyperthyroidism,_non...	.	.	0.29313	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10116	314719	14	81612114	T	C	339661	Likely_benign	Congenital_hypothyroidism|Hyperthyroidism,_non...	.	.	0.29353	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10117	314727	14	88399488	A	C	339667	Benign	Galactosylceramide_beta-galactosidase_deficiency	.	.	0.48862	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10118	314729	14	88399623	T	C	337616	Benign	Galactosylceramide_beta-galactosidase_deficiency	.	.	0.44788	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10119	314731	14	88399801	C	T	337617	Benign	Galactosylceramide_beta-galactosidase_deficiency	.	.	0.48882	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10120	314732	14	88399887	TATC	T	330918	Benign	Galactosylceramide_beta-galactosidase_deficiency	.	.	0.49341	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10121	314734	14	88400087	C	T	339676	Benign	Galactosylceramide_beta-galactosidase_deficiency	.	.	0.9409	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10122	314736	14	88400353	C	T	339677	Benign	Galactosylceramide_beta-galactosidase_deficiency	.	0.43628	0.44748	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10123	314741	14	88400486	A	G	339688	Benign	Galactosylceramide_beta-galactosidase_deficiency	.	.	0.49341	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10124	92500	14	88401213	T	C	98409	Benign	Galactosylceramide_beta-galactosidase_deficien...	0.95948	.	0.9407	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10125	680310	14	88401392	G	A	666692	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10126	680307	14	88406120	C	T	667457	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10127	680306	14	88406127	G	C	666693	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10128	445792	14	88407716	T	TA	439064	Likely_benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10129	92499	14	88407734	G	C	98408	Benign	Galactosylceramide_beta-galactosidase_deficien...	0.95964	0.98303	0.9409	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10130	92498	14	88407875	T	A	98407	Benign	Galactosylceramide_beta-galactosidase_deficien...	0.96025	.	0.9409	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10131	92497	14	88407888	A	G	98406	Benign,_other	Galactosylceramide_beta-galactosidase_deficien...	0.52239	0.4406	0.44748	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10132	92496	14	88407917	G	A	98405	Benign	Galactosylceramide_beta-galactosidase_deficien...	0.43122	0.54129	0.48882	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10133	682663	14	88408221	T	C	666696	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10134	680304	14	88411693	A	G	667463	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10135	680303	14	88411803	T	C	666699	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10136	167118	14	88411947	T	C	177737	Benign	not_specified	0.96084	0.98319	0.94269	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10137	680302	14	88412310	G	A	667583	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10138	92494	14	88414211	G	A	98403	Benign	Galactosylceramide_beta-galactosidase_deficien...	0.40831	0.37337	0.36661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10139	680300	14	88416390	A	G	666701	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10140	680299	14	88416441	C	T	667585	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10141	92493	14	88417095	GA	G	98402	Conflicting_interpretations_of_pathogenicity	Abnormality_of_brain_morphology|Galactosylcera...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10142	680298	14	88417244	C	T	667590	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10143	680296	14	88417289	A	G	667593	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10144	682662	14	88434409	A	T	667475	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10145	801397	14	88852279	TG	T	789778	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10146	286866	14	88862529	G	A	271103	Benign/Likely_benign	Leber_congenital_amaurosis|not_specified|Retin...	0.41095	0.34728	0.40755	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10147	130765	14	89042180	T	G	136211	Likely_benign	not_specified	0.5925	0.61878	0.48582	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10148	262516	14	89307320	T	C	255109	Benign	not_specified	0.19829	0.21153	0.1887	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10149	314807	14	89343992	G	A	337713	Benign	Bardet-Biedl_syndrome|Retinitis_Pigmentosa,_Re...	.	.	0.19988	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10150	674613	14	90863489	G	A	656269	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10151	683300	14	90863870	C	T	667831	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10152	674614	14	90866346	C	T	667624	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10153	668719	14	90869913	C	T	667628	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10154	158118	14	91739081	A	G	167971	Benign	not_specified	0.92273	0.85241	0.80591	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10155	158110	14	91763637	C	T	167963	Benign	not_specified	0.58635	0.53036	0.49401	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10156	713623	14	91766410	C	T	725855	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10157	158099	14	91773494	G	A	167951	Benign	not_specified	0.12268	0.15955	0.16633	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10158	158098	14	91773568	T	C	167950	Benign	not_specified	0.5794	0.53357	0.48043	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10159	158120	14	91883967	G	T	167973	Benign	not_specified	0.35478	.	0.36322	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10160	683869	14	92336989	C	T	667834	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10161	683518	14	92344300	A	G	667632	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10162	683516	14	92347345	C	A	666726	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10163	163450	14	92347680	A	G	176093	Benign	Macular_degeneration|not_specified|Cutis_Laxa,...	0.75681	0.7609	0.78494	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10164	683515	14	92348975	A	G	666729	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10165	672116	14	92499348	T	G	667644	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10166	667761	14	92505600	C	A	667904	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10167	128510	14	92549586	G	A	133959	Likely_benign	not_specified	0.5416	0.50276	0.56669	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10168	1420	14	92773663	G	T	16459	association	Skin/hair/eye_pigmentation,_variation_in,_6	.	.	0.26078	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10169	586377	14	94187832	C	T	577377	Benign	not_provided	0.58258	0.60317	0.4988	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10170	586376	14	94245649	A	G	577378	Benign	not_provided	0.72896	0.69198	0.58566	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10171	586378	14	94245652	C	T	577380	Benign	not_provided	0.45092	.	0.36302	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10172	315004	14	94843565	T	C	321840	Benign	Alpha-1-antitrypsin_deficiency	.	.	0.66254	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10173	315008	14	94843818	A	G	331149	Likely_benign	Alpha-1-antitrypsin_deficiency	.	.	0.69629	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10174	315009	14	94843932	A	G	321853	Likely_benign	Alpha-1-antitrypsin_deficiency	.	.	0.46506	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10175	315015	14	94844305	C	T	331152	Likely_benign	Alpha-1-antitrypsin_deficiency	.	.	0.27197	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10176	315018	14	94844470	C	A	337963	Likely_benign	Alpha-1-antitrypsin_deficiency	.	.	0.2512	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10177	17955	14	94847415	A	G	32994	Benign/Likely_benign	PI_M1-ALA213|PI,_M1A|Alpha-1-antitrypsin_defic...	.	0.22145	0.2494	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10178	18051	14	95080803	G	A	33090	Benign	ANTICHYMOTRYPSIN_SIGNAL_PEPTIDE_POLYMORPHISM|n...	0.4022	0.44802	0.39936	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10179	315063	14	95554142	T	C	331201	Benign	Pleuropulmonary_blastoma|not_provided	.	.	0.17232	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10180	315075	14	95555205	C	T	321892	Benign	Pleuropulmonary_blastoma	.	.	0.99002	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10181	315096	14	95556508	CA	C	331225	Uncertain_significance	Pleuropulmonary_blastoma	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10182	315098	14	95556747	A	T	321919	Benign	Pleuropulmonary_blastoma|DICER1-related_pleuro...	.	.	0.90895	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10183	516580	14	95581899	G	A	505595	Benign	DICER1-related_pleuropulmonary_blastoma_cancer...	.	.	0.16574	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10184	676815	14	95582544	A	C	667564	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10185	676814	14	95595654	T	C	667909	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10186	379974	14	96010424	G	A	373305	Benign	not_specified	0.11656	0.11975	0.08307	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10187	402361	14	96916228	C	T	390143	Benign	not_specified	0.33033	0.40514	0.3151	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10188	402363	14	96922752	C	G	390149	Benign	not_specified	0.8706	0.83842	0.88459	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10189	675686	14	97299591	G	A	667649	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10190	130731	14	97299853	A	G	136177	Benign	Pontocerebellar_hypoplasia_type_1A|Pontoneocer...	0.3309	0.35647	0.28954	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10191	680838	14	97303816	C	T	666770	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10192	670271	14	97303879	A	G	666774	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10193	670272	14	97303954	A	G	667566	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10194	680843	14	97304453	T	C	667569	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10195	670273	14	97312188	T	C	667650	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10196	670274	14	97312642	G	A	667923	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10197	672717	14	97313402	G	T	667925	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10198	672718	14	97323086	A	T	667656	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10199	680844	14	97323184	G	T	667931	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10200	680841	14	97323229	C	T	667933	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10201	675687	14	97342500	C	G	666781	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10202	668120	14	102492656	A	G	667499	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10203	679356	14	102506308	A	G	667276	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10204	681359	14	102507065	G	C	666418	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10205	668900	14	102509953	G	C	667286	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10206	674056	14	102510874	G	A	667189	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10207	128929	14	102514227	T	C	134376	Benign/Likely_benign	Charcot-Marie-Tooth_disease,_type_2|History_of...	0.30363	0.22921	0.34724	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10208	679361	14	102514713	G	A	666440	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10209	128932	14	102515015	G	A	134379	Benign/Likely_benign	Charcot-Marie-Tooth_disease,_type_2|not_specif...	0.29533	0.23108	0.3145	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10210	679362	14	102515171	A	G	667301	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10211	312672	14	102517132	C	T	335355	Likely_benign	Charcot-Marie-Tooth_disease,_type_2|Spinocereb...	.	.	0.02796	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10212	670710	14	102875200	A	G	666461	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10213	670231	14	102881323	T	G	667506	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10214	380890	14	102891646	A	G	373680	Benign	not_specified	0.36968	0.3627	0.30551	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10215	380873	14	102894593	G	A	375852	Benign	not_specified	0.96561	0.88334	0.86042	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10216	672257	14	102897922	G	A	667321	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10217	670741	14	102900336	C	T	666468	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10218	670742	14	102900407	G	A	667328	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10219	380901	14	102901023	G	A	374019	Benign	not_specified	0.13701	0.08604	0.10324	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10220	380891	14	102901201	A	G	372957	Benign	not_specified	0.27418	0.28296	0.21486	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10221	516666	14	102904551	CCCCGCTCCCTGCT	C	504407	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10222	667549	14	102910423	A	G	667241	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10223	670743	14	102911913	T	C	667513	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10224	240924	14	102912150	C	A	241780	Benign	Spastic_paraplegia_49,_autosomal_recessive|not...	0.01645	0.0183	0.00719	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10225	670744	14	102919047	C	T	667339	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10226	672260	14	102964359	C	CGCCCAAGCTCCCAGCTCCATCTGT	667346	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10227	379942	14	104029378	C	G	375870	Benign	not_specified|not_provided	0.26937	.	0.23463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10228	8944	14	104165753	G	A	23983	risk_factor	Cutaneous_malignant_melanoma_6	.	0.30751	0.21685	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10229	261603	14	105167807	C	T	254882	Benign	Focal_segmental_glomerulosclerosis|Focal_segme...	0.98227	0.97825	0.98662	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10230	683640	14	105168414	C	T	667250	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10231	683641	14	105176781	G	A	667262	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10232	261606	14	105177351	CA	C	254892	Benign	Focal_segmental_glomerulosclerosis|Focal_segme...	0.57171	0.61098	0.69489	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10233	681920	14	105178089	T	C	666487	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10234	681940	14	105178098	G	C	666493	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10235	681943	14	105178153	C	T	667557	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10236	683642	14	105178478	T	C	667363	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10237	681944	14	105179043	G	C	667364	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10238	681946	14	105179081	G	A	667558	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10239	261611	14	105179194	T	C	254897	Benign	Focal_segmental_glomerulosclerosis|not_specifi...	0.8803	0.86083	0.90935	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10240	681950	14	105180484	C	T	667266	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10241	261613	14	105180565	T	C	254899	Benign	Focal_segmental_glomerulosclerosis|not_specifi...	0.79753	0.80602	0.84425	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10242	261617	14	105180706	A	C	254903	Benign	Focal_segmental_glomerulosclerosis|Focal_segme...	.	.	0.69489	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10243	681951	14	105181848	A	G	667567	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10244	681953	14	105181851	C	T	667268	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10245	312721	14	105185666	G	T	337289	Benign	Focal_segmental_glomerulosclerosis	.	.	0.54812	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10246	769403	14	105196230	A	C	702775	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10247	498670	14	105239894	C	T	490094	Benign	Cowden_syndrome_6|not_specified	0.20163	0.31413	0.32248	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10248	695299	14	105246325	T	A	685395	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10249	803053	14	105268228	G	A	791385	Benign	Lethal_congenital_contracture_syndrome_6	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10250	402348	14	105412009	A	G	390106	Benign	not_specified	.	0.45473	0.38518	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10251	402906	15	20739825	G	A	390122	Benign	not_specified	.	0.08959	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10252	315341	15	23043896	G	A	322078	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.55571	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10253	315356	15	23045127	G	A	340084	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.07688	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10254	315375	15	23046314	C	G	331344	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.44788	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10255	315387	15	23046770	T	TAA	322041	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.72145	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10256	315389	15	23046848	T	C	322040	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10257	315390	15	23046855	G	T	331337	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.96386	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10258	315399	15	23047266	G	A	338174	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.11022	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10259	315405	15	23047702	G	C	338164	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.41014	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10260	315410	15	23047857	G	A	338158	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	0.6879	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10261	315416	15	23048392	TAC	T	338138	Benign	Spastic_paraplegia,_autosomal_dominant	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10262	129804	15	23052632	T	C	135250	Benign	Spastic_paraplegia_6|not_specified|Spastic_par...	0.6537	0.73589	0.70407	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10263	667673	15	23060625	G	C	667672	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10264	679847	15	23086770	G	C	666784	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10265	315447	15	25219512	T	C	331389	Likely_benign	Autism_spectrum_disorder	0.50964	.	0.52177	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10266	256818	15	26806064	T	C	255127	Benign	not_specified	0.34261	0.34562	0.47364	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10267	668799	15	26806659	G	A	667588	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10268	668798	15	26813137	C	T	667971	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10269	682657	15	26825179	A	G	667591	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10270	680281	15	26874395	T	C	667689	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10271	668792	15	27017253	G	T	667981	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10272	256819	15	27017536	G	A	255131	Benign	not_specified	0.10174	0.22209	0.1869	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10273	377904	15	27018797	G	A	376374	Benign	Seizures|not_specified|not_provided	0.11513	0.29825	0.19808	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10274	255730	15	28090173	C	T	255132	Benign	Oculocutaneous_albinism|not_specified	0.17469	0.26215	0.28275	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10275	195643	15	28096538	A	G	192804	Benign	Oculocutaneous_albinism|not_specified	0.49646	0.44926	0.5024	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10276	255722	15	28211921	G	A	255140	Benign	Oculocutaneous_albinism|not_specified	0.56705	0.56384	0.36402	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10277	255720	15	28228644	G	A	255141	Benign	Oculocutaneous_albinism|not_specified	0.53152	0.54602	0.32129	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10278	193986	15	28231793	T	C	191149	Benign	Oculocutaneous_albinism|not_specified	0.70913	0.77933	0.69329	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10279	255716	15	28235773	C	T	255145	Benign	Oculocutaneous_albinism|not_specified	0.59888	0.63672	0.41074	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10280	4745	15	28365618	A	G	19784	association	Skin/hair/eye_pigmentation,_variation_in,_1	.	.	0.17732	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10281	4744	15	28513364	T	C	19783	Affects	Skin/hair/eye_pigmentation,_variation_in,_1	.	.	0.38858	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10282	4743	15	28530182	C	T	19782	association	Skin/hair/eye_pigmentation,_variation_in,_1	.	.	0.37959	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10283	260492	15	31197564	G	A	255152	Benign	not_specified	0.31952	0.45941	0.42252	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10284	260491	15	31229420	T	C	255153	Benign	not_specified	0.3482	0.4755	0.45707	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10285	315511	15	31330280	A	G	322164	Benign	Congenital_Stationary_Night_Blindness,_Recessive	0.77362	0.81039	0.75939	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10286	193856	15	31342744	C	T	191019	Benign	not_specified|Congenital_Stationary_Night_Blin...	0.43899	0.54193	0.51917	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10287	196343	15	31362352	C	T	193504	Benign	not_specified|Congenital_Stationary_Night_Blin...	0.79264	0.79905	0.79094	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10288	315540	15	31369123	A	G	331492	Benign	Congenital_Stationary_Night_Blindness,_Recessive	0.82953	0.84465	0.89437	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10289	782885	15	32455479	A	G	714380	Likely_benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10290	284763	15	33191023	A	G	269000	Benign	not_specified	0.66567	0.57954	0.65775	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10291	461837	15	33855175	C	T	464817	Benign	not_provided	0.0273	0.00987	0.02756	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10292	461892	15	33916152	T	A	463991	Benign	Epileptic_encephalopathy	0.05392	0.01627	0.05531	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10293	315547	15	34522557	G	A	322184	Likely_benign	Andermann_syndrome	.	.	0.17692	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10294	315555	15	34522935	GAGAC	G	331510	Likely_benign	Andermann_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10295	315556	15	34522985	C	G	322193	Benign	Andermann_syndrome	.	.	0.96705	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10296	315561	15	34523278	G	A	331514	Likely_benign	Andermann_syndrome	.	.	0.17712	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10297	315565	15	34523445	T	C	338420	Likely_benign	Andermann_syndrome	.	.	0.21526	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10298	315567	15	34523563	C	CG	340191	Likely_benign	Andermann_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10299	315581	15	34524117	ATT	A	338444	Likely_benign	Andermann_syndrome	.	.	0.17692	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10300	315582	15	34524236	G	C	340194	Likely_benign	Andermann_syndrome	.	.	0.17352	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10301	315587	15	34524590	A	G	340206	Benign	Andermann_syndrome	.	.	0.94569	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10302	315595	15	34524995	G	T	331534	Benign	Andermann_syndrome	.	.	0.78954	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10303	669887	15	34527085	C	A	666814	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10304	670100	15	34527713	G	A	667989	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10305	670098	15	34528588	G	T	667604	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10306	159893	15	34529776	A	G	169111	Likely_benign	not_specified	0.14741	0.18898	0.20707	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10307	669882	15	34534723	A	G	667617	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10308	670094	15	34536090	C	T	667620	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10309	159891	15	34536143	G	T	169112	Likely_benign	not_specified	0.02862	.	0.02177	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10310	670566	15	34537435	C	T	667626	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10311	670093	15	34542730	T	C	667990	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10312	670092	15	34542739	G	C	666818	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10313	139121	15	34542872	C	G	142824	Benign/Likely_benign	Andermann_syndrome|not_specified	0.15602	.	0.20727	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10314	673452	15	34543298	G	GA	666820	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10315	139120	15	34544351	C	A	142823	Benign	not_specified	0.155	0.23126	0.20687	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10316	139119	15	34544468	C	T	142822	Benign/Likely_benign	Andermann_syndrome|not_specified	0.1551	.	0.20687	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10317	669867	15	34544852	A	T	667633	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10318	668755	15	34546259	A	G	666821	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10319	670089	15	34546434	T	C	667698	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10320	670088	15	34546451	G	C	667700	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10321	670564	15	34550009	T	TA	667645	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10322	670086	15	34550118	C	T	666825	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10323	670085	15	34550206	C	CAAAG	667995	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10324	159898	15	34551082	G	A	169119	Benign	Andermann_syndrome|not_specified	0.23411	0.25109	0.27676	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10325	667460	15	34628322	T	C	666835	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10326	159892	15	34628570	C	G	169121	Likely_benign	not_specified	0.47239	.	0.48762	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10327	315628	15	34629024	C	T	340236	Benign/Likely_benign	Andermann_syndrome|Dyskeratosis_Congenita,_Rec...	.	.	0.21066	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10328	670084	15	34629096	T	A	666843	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10329	679868	15	34629167	G	A	666846	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10330	315631	15	34634033	A	G	340242	Benign/Likely_benign	Andermann_syndrome|Dyskeratosis_Congenita,_Rec...	.	.	0.21006	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10331	315633	15	34634124	C	G	338504	Benign	Dyskeratosis_Congenita,_Recessive	0.15787	0.1782	0.21006	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10332	261036	15	34634324	C	G	255154	Benign	not_specified|Dyskeratosis_Congenita,_Recessive	0.45992	0.36811	0.45288	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10333	315653	15	35080931	T	C	338520	Likely_benign	Atrial_septal_defect|Hypertrophic_cardiomyopat...	.	.	0.45367	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10334	315668	15	35081574	C	T	338564	Likely_benign	Atrial_septal_defect|Hypertrophic_cardiomyopat...	.	.	0.65595	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10335	315672	15	35081694	CT	C	338581	Likely_benign	Atrial_septal_defect|Hypertrophic_cardiomyopat...	.	.	0.14537	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10336	315694	15	35082225	C	T	338595	Likely_benign	Atrial_septal_defect|Hypertrophic_cardiomyopat...	.	.	0.27855	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10337	677956	15	35085201	C	T	667714	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10338	257531	15	36937405	G	T	255156	Benign	not_specified	0.95394	0.95545	0.95807	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10339	257532	15	36946303	C	G	255157	Benign	not_specified	0.43983	0.53516	0.49701	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10340	561829	15	38545725	A	C	552838	Benign	not_provided	.	.	0.84205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10341	561830	15	38591300	A	G	552839	Benign	not_provided	.	.	0.80232	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10342	41371	15	38614525	G	A	49795	Benign/Likely_benign	Legius_syndrome|not_specified|not_provided	0.82584	0.86375	0.80012	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10343	561883	15	38614883	TAAGAGCTTGAAGG	T	552840	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10344	561831	15	38616645	T	C	552841	Benign	not_provided	.	.	0.76478	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10345	561479	15	38616815	G	A	552842	Benign	not_provided	.	.	0.90895	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10346	561832	15	38617282	A	G	552845	Benign	not_provided	.	.	0.79633	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10347	561406	15	38631840	T	C	552846	Benign	not_provided	.	.	0.79932	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10348	41452	15	38631920	G	A	49890	Benign	Legius_syndrome|not_specified|not_provided	0.25027	0.22654	0.17792	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10349	41453	15	38631930	C	A	49891	Benign/Likely_benign	Legius_syndrome|not_specified|not_provided	0.82546	0.8637	0.79932	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10350	561407	15	38632148	A	G	552847	Benign	not_provided	0.90691	0.97471	0.90955	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10351	561480	15	38641891	A	G	552848	Benign	not_provided	.	.	0.79932	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10352	561481	15	38642971	G	C	552849	Benign	not_provided	.	.	0.79912	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10353	561482	15	38643009	G	A	552850	Benign	not_provided	.	.	0.79932	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10354	561483	15	38643031	C	T	552851	Benign	not_provided	.	.	0.79892	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10355	41370	15	38643574	T	C	49794	Benign/Likely_benign	Legius_syndrome|not_specified|not_provided	0.82538	.	0.79952	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10356	315753	15	38645521	ACTAT	A	331665	Likely_benign	Legius_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10357	315762	15	38646696	G	A	322368	Likely_benign	Legius_syndrome	.	.	0.13758	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10358	315774	15	38647695	G	A	331693	Likely_benign	Legius_syndrome	.	.	0.16474	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10359	315775	15	38647811	G	A	340362	Likely_benign	Legius_syndrome	.	.	0.95407	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10360	315780	15	38648527	T	A	322372	Likely_benign	Legius_syndrome	.	.	0.76737	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10361	315785	15	38648797	A	G	338686	Likely_benign	Legius_syndrome	.	.	0.15795	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10362	315789	15	38648975	C	T	322393	Likely_benign	Legius_syndrome	.	.	0.75379	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10363	674658	15	40226294	A	G	666878	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10364	381178	15	40226495	T	C	374053	Benign	Pulmonary_venoocclusive_disease_2,_autosomal_r...	0.89862	0.91117	0.96006	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10365	674659	15	40231500	A	G	667716	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10366	674660	15	40231625	A	T	667720	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10367	674661	15	40232001	C	A	668007	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10368	672385	15	40232115	G	GA	667659	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10369	674638	15	40247689	A	G	668011	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10370	683489	15	40253674	G	A	666885	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10371	683492	15	40253723	C	G	668013	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10372	678093	15	40253743	G	T	667668	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10373	674639	15	40253819	C	T	668022	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10374	674640	15	40254155	A	G	666888	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10375	678114	15	40254332	T	C	668026	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10376	683494	15	40257615	A	G	667673	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10377	674641	15	40259504	G	A	666895	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10378	674642	15	40265404	T	C	666897	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10379	381179	15	40265799	A	G	374061	Benign	Pulmonary_venoocclusive_disease_2,_autosomal_r...	0.94267	0.88831	0.84445	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10380	674662	15	40270214	A	G	666909	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10381	674663	15	40278192	T	C	667723	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10382	674664	15	40282625	T	C	668037	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10383	674665	15	40282701	T	C	667729	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10384	674667	15	40284523	C	T	667734	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10385	674668	15	40284802	C	T	667680	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10386	674669	15	40285120	A	G	666912	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10387	674670	15	40291140	C	T	668039	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10388	674671	15	40300092	T	C	666913	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10389	381181	15	40300214	G	C	374485	Benign	Pulmonary_venoocclusive_disease_2,_autosomal_r...	0.35064	0.39317	0.38019	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10390	683495	15	40312838	G	A	667683	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10391	381183	15	40313083	G	T	373397	Benign	Pulmonary_venoocclusive_disease_2,_autosomal_r...	0.93858	0.91888	0.86821	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10392	674672	15	40314526	G	A	667743	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10393	381185	15	40322552	G	T	374064	Benign	Pulmonary_venoocclusive_disease_2,_autosomal_r...	0.93031	0.91443	0.90555	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10394	683496	15	40324075	G	C	666915	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10395	674673	15	40324837	C	T	667684	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10396	402823	15	40328665	G	A	390230	Benign	not_specified	0.60623	0.61173	0.45787	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10397	133780	15	40477831	G	A	137519	Benign	not_specified	0.73597	0.65662	0.62819	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10398	257632	15	40488851	G	A	255165	Benign	not_specified	0.22643	.	0.1907	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10399	257634	15	40500986	C	T	255167	Benign	not_specified	0.46671	0.49157	0.39697	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10400	803066	15	40509600	A	G	791443	Benign	Mosaic_variegated_aneuploidy_syndrome_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10401	94053	15	40699940	T	C	99955	Benign	Isovaleryl-CoA_dehydrogenase_deficiency|not_sp...	0.59557	0.68377	0.64796	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10402	197740	15	40703609	A	G	194901	Benign	not_specified	.	.	0.97844	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10403	258591	15	40705159	T	C	255172	Benign	not_specified	0.32931	0.46262	0.46605	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10404	258590	15	40708422	A	G	255173	Benign	not_specified	0.57727	0.67857	0.63219	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10405	315815	15	40711270	C	G	322414	Benign	Isovaleryl-CoA_dehydrogenase_deficiency	.	.	0.50739	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10406	315820	15	40711933	G	A	331727	Benign	Isovaleryl-CoA_dehydrogenase_deficiency	.	.	0.58686	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10407	315821	15	40712039	C	G	322429	Benign	Isovaleryl-CoA_dehydrogenase_deficiency	.	.	0.50679	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10408	315822	15	40712072	C	T	340379	Benign	Isovaleryl-CoA_dehydrogenase_deficiency	.	.	0.50699	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10409	315823	15	40712348	AG	A	322434	Benign	Isovaleryl-CoA_dehydrogenase_deficiency	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10410	315828	15	40712737	T	C	331736	Benign	Isovaleryl-CoA_dehydrogenase_deficiency	.	.	0.61122	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10411	315834	15	40713306	T	C	338723	Benign	Isovaleryl-CoA_dehydrogenase_deficiency	.	.	0.50719	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10412	315837	15	40713490	CA	C	322437	Benign	Isovaleryl-CoA_dehydrogenase_deficiency	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10413	672913	15	40762879	A	G	666917	Likely_benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10414	128769	15	40764549	G	A	134218	Benign	not_specified	0.14547	0.10394	0.15336	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10415	128586	15	40898643	G	C	134035	Benign	not_specified|Primary_Microcephaly,_Recessive	0.82218	0.74565	0.65375	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10416	128595	15	40903684	A	G	134044	Benign	not_specified|Primary_Microcephaly,_Recessive	.	0.78784	0.70527	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10417	128588	15	40913840	G	T	134037	Benign	not_specified|Primary_Microcephaly,_Recessive	0.82171	0.74554	0.65395	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10418	128589	15	40914177	T	C	134038	Benign	not_specified|Primary_Microcephaly,_Recessive	0.39147	0.3924	0.35144	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10419	128590	15	40914772	C	T	134039	Benign	not_specified|Primary_Microcephaly,_Recessive	0.38989	0.39284	0.35084	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10420	128593	15	40915045	T	G	134042	Benign	Primary_autosomal_recessive_microcephaly_4|not...	0.3932	0.39234	0.35124	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10421	315854	15	40915190	A	G	322446	Benign	Primary_Microcephaly,_Recessive	0.86947	0.75891	0.70567	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10422	128596	15	40915894	T	C	134045	Benign	not_specified|Primary_Microcephaly,_Recessive	0.39279	0.39348	0.35184	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10423	128598	15	40916237	A	G	134047	Benign	not_specified|Primary_Microcephaly,_Recessive	0.3282	0.32704	0.20347	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10424	13128	15	40987528	G	C	28167	risk_factor	Breast_cancer,_susceptibility_to,_in_BRCA1_and...	.	.	0.14317	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10425	678273	15	42688772	A	G	668072	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10426	92406	15	42694944	T	C	98317	Benign	not_specified|not_provided	0.78068	0.69279	0.71945	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10427	678277	15	42697231	C	G	667772	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10428	668059	15	42701203	G	C	668088	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10429	678278	15	42701688	T	C	667780	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10430	678305	15	42703406	T	C	668100	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10431	286594	15	42704105	C	T	270831	Benign	Limb-girdle_muscular_dystrophy,_type_2A|not_sp...	.	.	0.99121	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10432	130647	15	43044852	T	C	136093	Benign/Likely_benign	not_specified|Spinocerebellar_Ataxia,_Dominant...	0.01224	0.00946	0.00399	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10433	316002	15	43212818	C	G	338921	Benign	Spinocerebellar_Ataxia,_Dominant	.	.	0.53874	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10434	262895	15	43256121	T	C	255211	Benign	not_specified	0.85958	0.86416	0.84485	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10435	262898	15	43352041	G	A	255215	Benign	not_specified	0.85904	0.8626	0.84445	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10436	255149	15	43499393	G	A	255217	Conflicting_interpretations_of_pathogenicity	Spherocytosis_type_5|not_specified|Spherocytos...	0.01615	0.0174	0.00539	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10437	165304	15	43893733	C	T	176109	Benign	not_specified	0.04379	0.04667	0.01817	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10438	227082	15	43903129	A	G	230573	Benign	not_specified	.	0.02814	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10439	670115	15	44903285	C	A	666939	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10440	194676	15	44907562	T	C	191839	Benign	Spastic_paraplegia_11,_autosomal_recessive|not...	0.01024	0.00993	0.00439	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10441	41271	15	44943757	A	G	49695	Benign	Spastic_paraplegia_11,_autosomal_recessive|not...	0.4793	0.46595	0.47484	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10442	316125	15	45385496	A	T	340597	Likely_benign	Congenital_hypothyroidism	.	.	0.23023	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10443	316126	15	45385626	C	T	332071	Likely_benign	Congenital_hypothyroidism	.	.	0.10324	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10444	316129	15	45385895	A	G	322587	Likely_benign	Congenital_hypothyroidism	.	.	0.09685	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10445	316130	15	45385916	C	T	340603	Likely_benign	Congenital_hypothyroidism	.	.	0.22524	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10446	260327	15	45386806	G	C	255228	Benign/Likely_benign	Congenital_hypothyroidism|not_specified	0.08428	0.06835	0.07049	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10447	260324	15	45391566	A	T	255230	Benign	Congenital_hypothyroidism|Thyroid_dyshormonoge...	0.99161	0.9977	0.99141	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10448	260323	15	45392075	G	A	255231	Benign	Congenital_hypothyroidism|Thyroid_dyshormonoge...	0.70274	0.86444	0.72025	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10449	260322	15	45393014	G	C	255232	Benign	not_specified	0.03533	0.04804	0.03135	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10450	260321	15	45397831	G	A	255233	Benign/Likely_benign	Congenital_hypothyroidism|not_specified	0.16587	0.09818	0.15296	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10451	260320	15	45397889	C	T	255234	Benign/Likely_benign	Congenital_hypothyroidism|not_specified	0.07843	0.0673	0.0629	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10452	260319	15	45398314	G	A	255235	Benign/Likely_benign	Congenital_hypothyroidism|not_specified	0.07866	0.06728	0.0631	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10453	260318	15	45398369	C	T	255236	Benign/Likely_benign	Congenital_hypothyroidism|not_specified	0.04965	.	0.03315	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10454	260317	15	45398438	T	C	255237	Benign/Likely_benign	Congenital_hypothyroidism|not_specified	0.18103	0.10207	0.16494	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10455	260315	15	45400358	C	G	255239	Benign	Congenital_hypothyroidism|Thyroid_dyshormonoge...	0.85668	.	0.86142	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10456	260326	15	45404066	G	A	255241	Benign	Congenital_hypothyroidism|Thyroid_dyshormonoge...	0.74315	0.86242	0.75998	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10457	263302	15	45408414	C	G	255242	Benign	Thyroglobulin_synthesis_defect|not_specified	0.86438	0.96207	0.85843	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10458	263303	15	45408699	C	T	255243	Benign	Thyroglobulin_synthesis_defect|not_specified	0.70252	0.84185	0.68291	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10459	263304	15	45408710	A	G	255244	Benign	Thyroglobulin_synthesis_defect|not_specified	0.93514	.	0.92033	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10460	263305	15	45408933	T	C	255245	Benign	Thyroglobulin_synthesis_defect|not_specified	0.75344	0.87646	0.76418	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10461	263306	15	45409271	C	T	255246	Benign	Thyroglobulin_synthesis_defect|not_specified	0.70565	0.85168	0.68411	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10462	225957	15	45620985	C	T	227779	drug_response	hmg_coa_reductase_inhibitors_response_-_Toxici...	.	.	0.58746	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10463	316200	15	45653367	G	A	340648	Benign	Arginine:glycine_amidinotransferase_deficiency	.	.	0.71765	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10464	316201	15	45653394	C	T	339114	Likely_benign	Arginine:glycine_amidinotransferase_deficiency	.	.	0.05531	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10465	316203	15	45653572	C	CTG	322635	Benign	Arginine:glycine_amidinotransferase_deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10466	316204	15	45653592	A	G	332157	Benign	Arginine:glycine_amidinotransferase_deficiency	.	.	0.61781	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10467	316206	15	45653707	T	C	340649	Benign	Arginine:glycine_amidinotransferase_deficiency	.	.	0.45068	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10468	129137	15	45654327	A	G	134583	Benign	Arginine:glycine_amidinotransferase_deficiency...	0.53394	0.53293	0.71765	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10469	680745	15	45655903	T	C	667783	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10470	682670	15	45660758	C	G	667717	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10471	129138	15	45661678	T	A	134584	Benign	Arginine:glycine_amidinotransferase_deficiency...	0.43496	.	0.61861	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10472	684069	15	45668547	A	C	668109	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10473	680744	15	45668565	T	C	668114	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10474	684068	15	45670316	G	A	668116	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10475	316215	15	45670851	G	A	340655	Benign	Arginine:glycine_amidinotransferase_deficiency	.	0.55333	0.44389	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10476	684065	15	45671325	A	G	667726	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10477	225951	15	45673029	T	C	227780	drug_response	hmg_coa_reductase_inhibitors_response_-_Toxici...	.	.	0.45088	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10478	255874	15	48580713	T	C	255252	Benign/Likely_benign	Bartter_syndrome,_type_1,_antenatal|not_specif...	0.99744	0.99924	0.9978	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10479	316285	15	48595192	G	T	339194	Benign	Antenatal_Bartter_Syndrome	.	.	0.73522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10480	316290	15	48595366	A	G	332223	Benign	Antenatal_Bartter_Syndrome	.	.	0.69609	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10481	316294	15	48596166	A	T	332230	Benign	Antenatal_Bartter_Syndrome	.	.	0.82069	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10482	316310	15	48701029	C	T	332247	Benign	Ectopia_lentis|Marfan_syndrome|Acromicric_dysp...	.	.	0.78235	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10483	316329	15	48701612	A	C	340715	Benign	Ectopia_lentis|Marfan_syndrome|Acromicric_dysp...	.	.	0.65695	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10484	316351	15	48702457	C	A	322767	Benign	Ectopia_lentis|Marfan_syndrome|Acromicric_dysp...	.	.	0.91933	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10485	316354	15	48702873	G	A	339275	Benign	Ectopia_lentis|Marfan_syndrome|Acromicric_dysp...	.	.	0.60004	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10486	677988	15	48703823	A	G	668117	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10487	680580	15	48705206	T	C	667796	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10488	672314	15	48713996	G	T	666958	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10489	680579	15	48720271	C	T	666959	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10490	137312	15	48720526	G	C	141015	Benign	not_specified	0.6784	0.74038	0.65595	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10491	680578	15	48724768	C	T	668138	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10492	680577	15	48733625	C	T	667738	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10493	680575	15	48737126	T	TAA	667828	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10494	680574	15	48739274	A	G	668140	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10495	680569	15	48744489	C	A	667847	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10496	228314	15	48807637	C	T	230590	Benign	Marfan_syndrome|Thoracic_aortic_aneurysm_and_a...	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10497	672311	15	48903126	A	G	667816	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10498	678485	15	48937339	G	A	668201	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10499	678344	15	49048965	G	C	667824	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10500	678329	15	49052669	A	C	666999	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10501	669844	15	49060083	G	T	667825	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10502	669815	15	49060166	C	G	667883	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10503	678328	15	49060725	T	C	667830	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10504	678333	15	49083198	C	T	667002	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10505	158274	15	49083577	C	T	169172	Benign	Seckel_syndrome|not_specified|Primary_Microcep...	0.41284	0.39745	0.34465	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10506	668065	15	49087934	T	C	667003	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10507	136719	15	49090175	G	A	140422	Benign/Likely_benign	Seckel_syndrome|not_specified|Primary_Microcep...	0.0074	0.05345	0.08686	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10508	678332	15	49098016	C	A	667840	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10509	316436	15	49103244	T	C	332325	Benign	Seckel_syndrome|Primary_Microcephaly,_Recessive	.	.	0.19709	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10510	4807	15	50878630	G	A	19846	risk_factor	Amyotrophic_lateral_sclerosis-parkinsonism/dem...	.	0.08703	0.07588	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10511	677997	15	51200754	C	T	667888	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10512	677998	15	51200839	A	C	667845	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10513	678000	15	51204133	C	T	667849	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10514	380768	15	51204364	G	A	373594	Benign	Spastic_paraplegia_51,_autosomal_recessive|not...	0.56279	0.56529	0.5591	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10515	128401	15	51217361	T	C	133850	Benign	Spastic_paraplegia_51,_autosomal_recessive|not...	0.43713	0.43515	0.4409	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10516	678001	15	51217475	G	A	667010	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10517	667966	15	51217674	A	G	668205	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10518	678002	15	51220989	G	A	667013	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10519	667967	15	51223449	C	G	667851	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10520	678003	15	51234178	A	G	667852	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10521	680064	15	51251122	T	G	667900	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10522	667968	15	51260875	T	A	668218	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10523	680066	15	51291056	A	C	667859	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10524	678004	15	51291576	G	A	668220	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10525	255650	15	52643564	G	A	255284	Benign	Griscelli_syndrome_type_1|not_specified	0.14636	0.15428	0.14856	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10526	255639	15	52681573	A	G	255294	Benign	not_specified	.	0.9688	0.96246	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10527	316486	15	53806154	C	G	339375	Likely_benign	Amelogenesis_Imperfecta,_Recessive	.	.	0.02696	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10528	316503	15	53807088	C	A	339378	Benign	Amelogenesis_Imperfecta,_Recessive	.	.	0.52716	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10529	316537	15	53807399	C	T	322920	Benign	Amelogenesis_Imperfecta,_Recessive	.	.	0.90435	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10530	316543	15	53807964	A	C	332461	Benign	Amelogenesis_Imperfecta,_Recessive	.	.	0.93171	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10531	316544	15	53807998	C	T	340846	Benign	Amelogenesis_Imperfecta,_Recessive	.	.	0.90455	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10532	316563	15	53808842	G	A	340888	Benign	Amelogenesis_Imperfecta,_Recessive	.	.	0.93211	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10533	316582	15	53815527	AAG	A	340892	Uncertain_significance	Amelogenesis_Imperfecta,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10534	262998	15	53994493	A	G	255300	Benign	not_specified|Amelogenesis_Imperfecta,_Recessive	0.5629	0.57917	0.63978	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10535	263003	15	54003091	G	A	255301	Benign/Likely_benign	not_specified|Amelogenesis_Imperfecta,_Recessive	0.40489	0.4113	0.32089	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10536	263002	15	54008795	T	C	255302	Benign	not_specified|Amelogenesis_Imperfecta,_Recessive	0.75798	0.74687	0.7492	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10537	263001	15	54008845	T	C	255303	Benign	not_specified|Amelogenesis_Imperfecta,_Recessive	0.95938	0.9882	0.95947	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10538	263000	15	54008889	GA	G	255304	Benign/Likely_benign	not_specified|Amelogenesis_Imperfecta,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10539	369092	15	55495151	G	A	353321	Benign	Griscelli_syndrome	.	.	0.26657	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10540	316611	15	55495698	C	T	339482	Benign	Griscelli_syndrome	.	.	0.26538	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10541	316612	15	55495774	A	G	339485	Benign	Griscelli_syndrome	.	.	0.26518	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10542	316613	15	55495779	A	T	339493	Benign	Griscelli_syndrome	.	.	0.26558	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10543	316618	15	55495963	T	C	322988	Benign	Griscelli_syndrome	.	.	0.26518	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10544	316621	15	55496043	T	A	332533	Benign	Griscelli_syndrome	.	.	0.26538	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10545	316622	15	55496058	A	C	339506	Benign	Griscelli_syndrome	.	.	0.26538	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10546	316624	15	55496111	T	C	340922	Benign	Griscelli_syndrome	.	.	0.26518	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10547	316627	15	55496278	C	T	340924	Benign	Griscelli_syndrome	.	.	0.26518	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10548	316628	15	55496287	A	T	332547	Benign	Griscelli_syndrome	.	.	0.26538	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10549	316633	15	55496756	T	C	339514	Benign	Griscelli_syndrome	.	.	0.26498	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10550	316634	15	55496769	G	T	340931	Benign	Griscelli_syndrome	.	.	0.26518	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10551	316636	15	55496853	G	A	322989	Benign	Griscelli_syndrome	.	.	0.32668	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10552	259442	15	55497691	G	A	255305	Benign	not_specified|Griscelli_syndrome	0.28473	0.20073	0.26478	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10553	262315	15	55759193	T	C	255310	Benign	not_specified	0.45149	0.58383	0.52836	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10554	788449	15	58302887	T	C	714508	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10555	316660	15	58834741	G	T	323001	Benign	Hepatic_lipase_deficiency	0.57889	.	0.47804	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10556	316666	15	58838038	C	G	323007	Benign	Hepatic_lipase_deficiency	0.42358	0.42891	0.30351	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10557	316673	15	58853079	C	A	323013	Benign	Hepatic_lipase_deficiency	0.94533	0.96875	0.9361	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10558	316674	15	58853109	A	G	339577	Benign	Hepatic_lipase_deficiency	0.94548	0.96875	0.9359	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10559	770787	15	62219337	G	A	703274	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10560	668767	15	63334688	G	C	667916	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10561	684019	15	63340292	C	T	667936	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10562	668768	15	63341238	G	C	667868	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10563	678622	15	63349564	C	T	667948	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10564	684022	15	63351488	G	A	667950	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10565	31888	15	63351840	C	A	40548	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Familial_hypertrop...	0.63571	0.67368	0.70567	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10566	31889	15	63351873	T	C	40549	Benign/Likely_benign	Hypertrophic_cardiomyopathy|not_specified|Card...	0.0509	0.05331	0.02416	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10567	671948	15	63352092	G	A	667955	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10568	678158	15	63357852	T	G	667892	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10569	674934	15	64448365	C	T	667895	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10570	675189	15	64448460	A	T	668247	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10571	316715	15	65255704	C	T	323041	Benign	Spastic_Paraplegia,_Recessive	.	.	0.45407	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10572	667515	15	65272892	C	A	667960	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10573	670117	15	65273399	T	C	667961	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10574	670116	15	65273595	G	A	667963	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10575	316729	15	65282191	G	A	323048	Benign	Spastic_Paraplegia,_Recessive	.	.	0.53994	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10576	684265	15	65308583	C	G	667897	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10577	684264	15	65315735	T	G	668255	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10578	684261	15	65316386	T	C	667041	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10579	129308	15	65369395	C	T	134754	Benign	Nemaline_myopathy_6|not_specified|Nemaline_Myo...	0.39571	0.40032	0.52177	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10580	129309	15	65369531	G	T	134755	Benign	not_specified|Nemaline_Myopathy,_Dominant	0.37547	0.40242	0.5016	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10581	129311	15	65369951	A	G	134757	Benign	Nemaline_myopathy_6|not_specified|Nemaline_Myo...	0.88046	0.88529	0.90375	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10582	129307	15	65370353	T	C	134753	Benign	not_specified|Nemaline_Myopathy,_Dominant	0.98964	0.99609	0.98942	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10583	316756	15	65370652	T	C	341058	Benign	Nemaline_Myopathy,_Dominant	.	.	0.39078	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10584	316757	15	65370835	C	T	323067	Benign	Nemaline_Myopathy,_Dominant	.	.	0.88938	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10585	316759	15	65371050	A	G	323072	Benign	Nemaline_Myopathy,_Dominant	.	.	0.34325	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10586	316764	15	65371427	A	G	341062	Benign	Nemaline_Myopathy,_Dominant	.	.	0.38319	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10587	6312	15	65494212	A	G	21351	risk_factor	Lumbar_disc_disease,_susceptibility_to	.	0.56822	0.49661	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10588	316813	15	65947135	C	A	341089	Likely_benign	Congenital_Stationary_Night_Blindness,_Recessive	.	0.05022	0.02037	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10589	316816	15	65947183	G	A	323100	Likely_benign	Congenital_Stationary_Night_Blindness,_Recessive	.	0.12886	0.02656	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10590	40704	15	66679601	G	C	49174	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	0.16374	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10591	40784	15	66727597	G	C	49254	Benign	not_specified	0.27315	.	0.27077	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10592	561383	15	66728951	A	C	552857	Benign	not_provided	.	.	0.18411	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10593	561540	15	66735925	C	CAG	552859	Benign	not_provided	.	.	0.97684	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10594	561818	15	66736741	C	T	552861	Benign	not_provided	.	.	0.31969	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10595	561384	15	66773975	G	A	552863	Benign	not_provided	.	.	0.15855	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10596	44586	15	66782108	CTATT	C	53753	Benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrom...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10597	316841	15	66783261	C	A	332760	Likely_benign	Noonan_syndrome|Cardio-facio-cutaneous_syndrome	.	.	0.18311	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10598	240176	15	66995716	C	T	242095	Benign	Loeys-Dietz_syndrome_3	0.02094	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10599	139216	15	67358478	G	A	142919	Benign	Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...	0.21302	0.37699	0.22364	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10600	672362	15	67430223	T	C	667052	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10601	683841	15	67430733	T	C	668281	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10602	811543	15	67442596	C	T	799816	Benign	Loeys-Dietz_syndrome_3	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10603	139217	15	67457335	A	G	142920	Benign	Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_3|Th...	0.88	0.86352	0.83407	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10604	672363	15	67457485	G	C	667970	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10605	672364	15	67458930	C	T	667978	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10606	683844	15	67476735	G	A	667985	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10607	683847	15	67476756	C	T	668288	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10608	683848	15	67476768	C	T	667905	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10609	673139	15	67476952	G	T	668299	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10610	673140	15	67476970	T	C	668313	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10611	316873	15	67483276	C	T	332783	Benign	Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...	.	.	0.2516	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10612	316889	15	67483717	G	A	341152	Likely_benign	Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...	.	.	0.01058	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10613	316892	15	67483979	G	A	339754	Benign	Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...	.	.	0.25339	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10614	316896	15	67484119	G	A	341159	Benign	Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...	.	.	0.2528	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10615	316902	15	67484297	C	T	339761	Benign	Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...	.	.	0.2528	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10616	316929	15	67485101	G	A	323180	Benign	Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...	.	.	0.17053	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10617	316934	15	67485156	C	T	339769	Benign	Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...	.	.	0.2518	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10618	316947	15	67485667	C	T	332862	Benign	Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_...	.	.	0.25479	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10619	803103	15	67528374	T	G	791480	Benign	Keratosis_palmoplantaris_papulosa	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10620	369098	15	68499321	T	C	353327	Benign	Neuronal_Ceroid-Lipofuscinosis,_Recessive	.	.	0.48423	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10621	316970	15	68499661	G	A	339790	Benign	Neuronal_Ceroid-Lipofuscinosis,_Recessive	.	.	0.40495	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10622	668098	15	68501710	C	T	667994	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10623	668097	15	68506978	T	G	668008	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10624	560340	15	68510770	A	G	551393	Benign	Ceroid_lipofuscinosis_neuronal_6	.	.	0.47604	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10625	768717	15	69715488	C	T	778135	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10626	445726	15	72105928	AC	A	438998	Likely_benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10627	791639	15	72122642	C	T	714580	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10628	317033	15	72635829	A	C	332971	Benign	Tay-Sachs_disease	.	.	0.69329	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10629	317035	15	72635903	C	T	341250	Benign	Tay-Sachs_disease	.	.	0.69289	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10630	93191	15	72637795	T	C	99098	Benign	Tay-Sachs_disease|not_specified|not_provided	0.86954	0.96414	0.877	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10631	684096	15	72638128	T	C	668211	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10632	93189	15	72638892	T	C	99096	Benign	Tay-Sachs_disease|not_specified|not_provided	0.87	0.96433	0.8764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10633	166733	15	72987588	G	T	177512	Benign	Bardet-Biedl_syndrome_1|not_specified	0.93855	0.98328	0.94189	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10634	262143	15	73002035	G	A	255348	Benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.93865	0.98308	0.94209	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10635	166734	15	73023937	T	C	177513	Benign	not_specified|not_provided	0.95604	0.98746	0.96046	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10636	21734	15	73027478	T	C	34586	Benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.53272	0.57432	0.42891	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10637	317073	15	73030536	G	T	341280	Likely_benign	Bardet-Biedl_syndrome	.	.	0.11122	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10638	95285	15	73614834	T	C	101184	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.87519	.	0.85963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10639	259779	15	73616635	T	C	255358	Benign	not_specified|not_provided	0.79908	0.87581	0.77296	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10640	683543	15	73617035	A	G	667065	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10641	137539	15	73621946	G	A	141242	Benign	not_specified|Cardiovascular_phenotype	0.07398	0.08565	0.05312	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10642	137537	15	73660505	C	T	141240	Benign	not_specified|Cardiovascular_phenotype	0.03695	0.06131	0.02496	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10643	683544	15	73661687	T	G	668358	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10644	14361	15	74219582	G	A	29400	risk_factor	Exfoliation_syndrome,_susceptibility_to	.	0.18494	0.2476	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10645	14362	15	74222202	T	C	29401	risk_factor	Exfoliation_syndrome,_susceptibility_to	.	.	0.71286	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10646	403329	15	74328116	A	G	390172	Benign	not_specified	0.49908	0.52259	0.55192	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10647	403330	15	74328141	G	T	390173	Benign	not_specified	0.34642	0.3599	0.35124	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10648	317085	15	74472199	C	T	341282	Benign	Syndromic_Microphthalmia,_Recessive	.	.	0.53275	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10649	674954	15	74477216	G	A	668018	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10650	674953	15	74477239	G	A	667943	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10651	511079	15	75041917	C	A	505375	Likely_benign	not_specified	.	.	0.62979	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10652	675798	15	75047426	C	T	656305	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10653	94067	15	75183935	G	A	99969	Benign	Congenital_disorder_of_glycosylation|Congenita...	0.38155	0.36891	0.21366	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10654	94069	15	75185670	A	G	99971	Benign	Congenital_disorder_of_glycosylation|Congenita...	0.4712	0.43747	0.33826	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10655	94066	15	75189930	A	G	99968	Benign	Congenital_disorder_of_glycosylation|Congenita...	0.4715	0.43764	0.33866	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10656	317152	15	76508684	T	A	333071	Benign	Glutaric_aciduria,_type_2	.	.	0.97424	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10657	681672	15	76580527	C	T	667092	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10658	683823	15	76580547	C	T	668379	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10659	680103	15	76587777	C	T	668384	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10660	676233	15	76603928	C	T	668019	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10661	810900	15	77310636	G	C	799822	Benign	Pyogenic_arthritis,_pyoderma_gangrenosum_and_acne	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10662	440205	15	77324880	A	G	433868	Benign	Pyogenic_arthritis,_pyoderma_gangrenosum_and_a...	.	.	0.53175	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10663	668718	15	77327571	T	C	668044	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10664	768719	15	78369959	G	C	703352	Likely_benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10665	226515	15	78401620	C	T	230606	Benign	not_specified|not_provided	0.0255	0.02481	0.01178	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10666	402789	15	78558584	CAT	C	390183	Likely_benign	not_specified	0.03524	0.03216	0.01837	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10667	17497	15	78882925	G	A	32536	drug_response	Lung_cancer_susceptibility_2|Smoking_as_a_quan...	.	0.26767	0.14956	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10668	17503	15	78894339	G	A	32542	drug_response	Lung_cancer_susceptibility_2|Smoking_as_a_quan...	0.27192	0.27297	0.16813	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10669	380447	15	80450383	G	A	376678	Benign	not_specified	0.00892	0.00328	0.00958	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10670	92446	15	80450389	G	A	98355	Benign	Hypertyrosinemia|Tyrosinemia_type_I|not_specified	0.44633	0.51406	0.50679	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10671	255279	15	80452075	T	C	255370	Benign	not_specified	0.60265	0.60983	0.63299	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10672	255280	15	80452268	G	A	255371	Benign	not_specified	0.6081	.	0.64038	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10673	255282	15	80460524	A	G	255373	Benign	not_specified	0.72705	0.73907	0.77875	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10674	317217	15	80478599	AC	A	339979	Likely_benign	Hypertyrosinemia	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10675	317219	15	80478645	T	C	339984	Likely_benign	Hypertyrosinemia	.	.	0.11262	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10676	317221	15	80478835	C	G	341367	Likely_benign	Hypertyrosinemia	.	.	0.05112	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10677	317222	15	80478861	T	A	323442	Likely_benign	Hypertyrosinemia	.	.	0.11262	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10678	710056	15	83349637	G	A	726305	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10679	773051	15	84527509	C	G	778145	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10680	679398	15	85188994	T	C	656313	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10681	130839	15	85333953	A	G	136283	Benign/Likely_benign	Galloway-Mowat_syndrome_1|not_specified	0.75277	0.75013	0.78395	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10682	382155	15	85360101	T	C	374366	Benign	not_specified	0.85564	0.81887	0.86482	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10683	678087	15	85361042	T	G	667974	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10684	678441	15	85370597	C	G	668413	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10685	379361	15	85382193	C	A	374372	Benign	not_specified	0.65918	0.6708	0.72584	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10686	382154	15	85383145	C	G	374781	Benign	not_specified	0.19848	0.22023	0.13638	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10687	384685	15	85383640	G	A	374791	Benign	not_specified	0.19734	0.22195	0.13798	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10688	383784	15	85383839	G	A	374381	Benign	not_specified	0.6751	0.67895	0.74361	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10689	683073	15	85384431	A	G	668048	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10690	383785	15	85401259	C	T	374427	Benign	not_specified	0.78912	0.76442	0.80471	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10691	384674	15	85401419	T	C	376712	Benign	not_specified	0.83772	0.82764	0.84784	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10692	678477	15	85402431	G	A	667134	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10693	678541	15	85402795	A	G	668424	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10694	678542	15	85403496	G	A	668061	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10695	384691	15	85405995	T	C	376720	Benign	not_specified	0.19955	0.22419	0.15036	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10696	683074	15	85406494	A	C	668431	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10697	678088	15	85407564	A	C	668066	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10698	384676	15	85411692	C	T	376731	Benign	not_specified	0.24973	0.30746	0.39497	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10699	284980	15	89392745	T	C	269217	Benign	not_specified	0.9901	0.99096	0.99561	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10700	283836	15	89400339	A	C	268073	Benign	not_specified	0.56895	0.53481	0.42412	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10701	317228	15	89753220	C	T	341371	Benign	Pigmentary_retinal_dystrophy|Newfoundland_rod-...	.	.	0.34764	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10702	317230	15	89753349	A	C	339987	Benign	Pigmentary_retinal_dystrophy|Newfoundland_rod-...	.	.	0.91594	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10703	378479	15	89754954	G	A	374448	Benign	not_specified	0.31882	0.33742	0.25619	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10704	257484	15	89804043	C	T	255379	Benign	Fanconi_anemia|not_specified|not_provided	0.28628	.	0.25978	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10705	257486	15	89804111	G	A	255380	Benign	not_specified	0.47561	0.41638	0.44928	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10706	257490	15	89806710	C	T	255381	Benign	not_specified	0.34805	0.38197	0.33886	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10707	257491	15	89806721	G	A	255382	Benign	not_specified	0.37067	0.38082	0.33826	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10708	257481	15	89826496	C	T	255383	Benign	Fanconi_anemia|not_specified	0.468	0.41731	0.4393	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10709	257482	15	89836228	G	C	255384	Benign	Fanconi_anemia|not_specified|not_provided	0.28994	.	0.26498	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10710	439694	15	89838236	G	A	433550	Benign	not_specified|not_provided	0.96007	0.95935	0.98083	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10711	257485	15	89838318	A	T	255386	Benign/Likely_benign	Fanconi_anemia|not_specified|not_provided	0.08293	0.09467	0.0595	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10712	257487	15	89844688	A	C	255387	Benign	Fanconi_anemia|not_specified	0.36721	0.39438	0.36262	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10713	210987	15	89857711	A	ATACAAG	208225	Likely_benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10714	257489	15	89858602	T	C	255389	Benign/Likely_benign	Fanconi_anemia|not_specified|POLG-Related_Spec...	0.4096	0.41226	0.41234	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10715	317306	15	89859932	A	AC	340026	Benign/Likely_benign	Fanconi_anemia|POLG-Related_Spectrum_Disorders	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10716	317321	15	89860350	A	C	323507	Benign	Fanconi_anemia|POLG-Related_Spectrum_Disorders...	.	.	0.44589	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10717	619393	15	89860427	C	T	610810	Benign/Likely_benign	Progressive_sclerosing_poliodystrophy|not_prov...	.	.	0.44229	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10718	138763	15	89860786	A	C	142466	Benign	Progressive_sclerosing_poliodystrophy|not_spec...	0.43545	0.42095	0.41993	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10719	138754	15	89862341	A	G	142457	Benign/Likely_benign	Fanconi_anemia|Progressive_sclerosing_poliodys...	.	0.37471	0.29812	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10720	619492	15	89862366	T	C	610823	Benign	Progressive_sclerosing_poliodystrophy	0.31213	0.3719	0.29113	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10721	619386	15	89864316	G	GCTAC	610835	Benign	Progressive_sclerosing_poliodystrophy	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10722	680714	15	89865692	T	C	667155	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10723	667971	15	89866286	G	A	667992	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10724	619385	15	89867154	A	G	610855	Benign	Progressive_sclerosing_poliodystrophy	0.57686	0.49909	0.54732	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10725	667969	15	89869666	G	A	667163	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10726	667951	15	89871499	T	C	668455	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10727	680713	15	89873797	A	G	667167	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10728	680712	15	89876043	C	G	668132	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10729	695736	15	89878391	T	C	685411	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10730	263145	15	90173734	C	CAG	255399	Benign	Acrocallosal_syndrome,_Schinzel_type|not_speci...	0.57432	.	0.49221	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10731	96655	15	90174789	C	T	102548	Benign	Acrocallosal_syndrome,_Schinzel_type|not_speci...	0.54472	0.527	0.45108	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10732	96653	15	90174824	C	T	102546	Benign	Acrocallosal_syndrome,_Schinzel_type|not_speci...	0.53128	0.51282	0.4393	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10733	96652	15	90174955	C	T	102545	Benign	Acrocallosal_syndrome,_Schinzel_type|not_speci...	0.55927	0.54163	0.45108	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10734	96651	15	90176073	C	A	102544	Benign	Acrocallosal_syndrome,_Schinzel_type|not_speci...	0.53731	0.52546	0.4383	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10735	129413	15	90176432	T	G	134859	Benign	Acrocallosal_syndrome,_Schinzel_type|not_speci...	0.87048	.	0.79453	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10736	683980	15	90189758	A	C	668467	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10737	263138	15	90190048	A	G	255406	Benign	Acrocallosal_syndrome,_Schinzel_type|not_speci...	0.61848	0.56967	0.51178	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10738	96649	15	90191827	T	C	102542	Benign	Acrocallosal_syndrome,_Schinzel_type|not_speci...	0.92301	0.89122	0.86142	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10739	129408	15	90195967	C	G	134854	Benign	Acrocallosal_syndrome,_Schinzel_type|not_speci...	0.92563	.	0.86022	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10740	129972	15	90209135	G	A	135418	Benign	not_specified	0.03113	0.08823	0.02077	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10741	129970	15	90210263	A	G	135416	Likely_benign	not_specified	0.38106	0.37966	0.39637	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10742	129973	15	90213229	G	C	135419	Likely_benign	not_specified	0.98938	.	0.89577	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10743	369104	15	90321996	C	T	353333	Benign	Jarcho-Levin_syndrome	.	.	0.57528	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10744	254778	15	91312313	G	A	255426	Benign	not_specified	0.16995	0.1553	0.16094	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10745	92392	15	91312823	T	C	98303	Benign	Bloom_syndrome|not_specified|not_provided	0.38193	0.29559	0.36661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10746	92394	15	91337479	G	A	98305	Benign/Likely_benign	Bloom_syndrome|Hereditary_cancer-predisposing_...	0.18456	0.16113	0.15116	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10747	254780	15	91341599	T	G	255428	Benign	not_specified	0.17645	0.15891	0.14477	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10748	210529	15	91346630	C	CA	208234	Likely_benign	not_specified	.	.	0.70308	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10749	92395	15	91346923	C	A	98306	Benign/Likely_benign	Bloom_syndrome|Hereditary_cancer-predisposing_...	0.16272	0.15527	0.13319	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10750	92396	15	91354505	C	T	98307	Benign/Likely_benign	Bloom_syndrome|Hereditary_cancer-predisposing_...	0.16456	0.15568	0.13279	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10751	210530	15	91358271	G	GGAA	208235	Likely_benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10752	157646	15	91509592	T	C	167495	Uncertain_significance	Familial_cancer_of_breast	.	.	0.65555	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10753	157644	15	91511260	A	G	167493	Uncertain_significance	Familial_cancer_of_breast	.	.	0.75539	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10754	157640	15	91517780	G	C	167489	Uncertain_significance	Familial_cancer_of_breast	0.50731	0.5064	0.74301	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10755	157635	15	91523036	C	T	167484	Uncertain_significance	Familial_cancer_of_breast	.	.	0.49521	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10756	157632	15	91525197	C	T	167481	Uncertain_significance	Familial_cancer_of_breast	0.36715	0.30837	0.47065	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10757	157630	15	91527451	T	A	167479	Uncertain_significance	Familial_cancer_of_breast	.	.	0.42213	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10758	157631	15	91530820	A	G	167480	Uncertain_significance	Familial_cancer_of_breast	.	.	0.48463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10759	261041	15	91543761	C	T	255432	Benign	Arthrogryposis,_renal_dysfunction,_and_cholest...	0.56127	.	0.76777	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10760	261037	15	91548601	G	A	255435	Benign	Arthrogryposis_with_renal_dysfunction_and_chol...	0.09483	.	0.20807	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10761	317436	15	91565804	A	G	341554	Benign	Arthrogryposis_with_renal_dysfunction_and_chol...	.	.	0.75659	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10762	669402	15	93470217	G	GTATGTT	667173	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10763	668075	15	93472582	C	T	668143	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10764	668076	15	93485456	C	G	668478	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10765	668077	15	93489747	C	T	668028	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10766	680217	15	93497038	G	A	668480	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10767	668078	15	93499385	A	G	668158	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10768	257706	15	93510603	A	G	255443	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.76559	0.84194	0.82648	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10769	668079	15	93510994	G	T	668166	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10770	257708	15	93521604	A	G	255445	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.74765	0.83525	0.80911	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10771	678926	15	93522312	G	A	667191	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10772	680220	15	93524867	G	A	667193	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10773	678928	15	93527794	A	T	668498	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10774	668080	15	93527988	G	C	668173	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10775	668081	15	93528473	T	C	668180	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10776	257709	15	93536197	C	T	255446	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.2485	0.22658	0.19349	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10777	678930	15	93540089	T	C	668187	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10778	678932	15	93543531	A	T	667200	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10779	668082	15	93545831	G	T	668508	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10780	668083	15	93547575	T	C	667204	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10781	680221	15	93555717	A	G	668063	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10782	257713	15	93567864	A	C	255450	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.31468	0.29462	0.1865	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10783	284932	15	99456253	T	C	269169	Benign	not_specified	0.46943	0.57752	0.51118	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10784	199042	15	99459278	C	T	196202	Benign	not_specified|not_provided	0.00724	0.00729	0.00479	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10785	282215	15	99459314	G	T	266452	Conflicting_interpretations_of_pathogenicity	Insulin-like_growth_factor_1_resistance_to|not...	0.00354	0.00361	0.002	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10786	194610	15	99478225	G	A	191773	Benign	Insulin-like_growth_factor_1_resistance_to|not...	0.40268	0.39719	0.33566	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10787	317500	15	99501929	GA	G	340150	Benign	Insulin-like_growth_factor_1_resistance_to	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10788	317535	15	99503199	GGT	G	323741	Benign	Insulin-like_growth_factor_1_resistance_to	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10789	317539	15	99503521	C	CTT	340170	Benign	Insulin-like_growth_factor_1_resistance_to	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10790	317546	15	99503800	G	T	341605	Benign	Insulin-like_growth_factor_1_resistance_to	.	.	0.48323	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10791	317570	15	99504671	C	T	341626	Benign	Insulin-like_growth_factor_1_resistance_to	.	.	0.59045	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10792	317637	15	99506942	C	T	340252	Benign	Insulin-like_growth_factor_1_resistance_to	.	.	0.98942	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10793	315163	15	100512594	A	C	323871	Benign	Weill-Marchesani_syndrome_4	.	.	0.9998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10794	315178	15	100512878	C	T	340296	Likely_benign	Weill-Marchesani_syndrome_4	.	.	0.01478	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10795	315190	15	100513318	A	C	333587	Benign	Weill-Marchesani_syndrome_4	.	.	0.58447	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10796	315192	15	100513364	G	A	323891	Benign	Weill-Marchesani_syndrome_4	.	.	0.58167	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10797	315193	15	100513372	ACCTT	A	341712	Benign	Weill-Marchesani_syndrome_4	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10798	315196	15	100513524	T	C	341714	Benign	Weill-Marchesani_syndrome_4	.	.	0.58806	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10799	315197	15	100513529	C	T	333598	Benign	Weill-Marchesani_syndrome_4	.	.	0.58786	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10800	315201	15	100513587	CTGGGCT	C	340315	Conflicting_interpretations_of_pathogenicity	Weill-Marchesani_syndrome_4	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10801	315207	15	100513707	A	G	341719	Benign	Weill-Marchesani_syndrome_4	.	.	0.53674	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10802	315208	15	100513722	T	C	340319	Benign	Weill-Marchesani_syndrome_4	.	.	0.57388	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10803	315210	15	100513725	C	G	333602	Benign	Weill-Marchesani_syndrome_4	.	.	0.57768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10804	315221	15	100514040	C	G	323900	Benign	Weill-Marchesani_syndrome_4	.	.	0.58646	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10805	315222	15	100514063	C	T	341724	Benign	Weill-Marchesani_syndrome_4	.	.	0.58367	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10806	315224	15	100514097	G	A	323905	Benign	Weill-Marchesani_syndrome_4	.	.	0.66094	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10807	315225	15	100514109	T	G	340341	Benign	Weill-Marchesani_syndrome_4	.	.	0.59385	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10808	315230	15	100514178	T	G	323910	Benign	Weill-Marchesani_syndrome_4	.	.	0.58846	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10809	315234	15	100514194	C	CAGAATAAAGCCTTT	340349	Benign	Weill-Marchesani_syndrome_4	.	.	0.58467	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10810	315236	15	100514291	A	G	323914	Benign	Weill-Marchesani_syndrome_4	.	.	0.58666	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10811	315243	15	100514494	T	C	340365	Benign	Weill-Marchesani_syndrome_4	.	.	0.59006	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10812	315245	15	100514525	C	T	323916	Benign	Weill-Marchesani_syndrome_4	.	.	0.33846	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10813	315246	15	100514561	G	C	323920	Benign	Weill-Marchesani_syndrome_4	0.6467	0.62819	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10814	315248	15	100514614	T	C	341746	Benign	Weill-Marchesani_syndrome_4	0.71444	.	0.67951	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10815	315286	15	100672237	T	G	340003	Benign	Weill-Marchesani_syndrome_4	0.99839	.	0.9976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10816	315304	15	100801698	G	A	338092	Benign	Weill-Marchesani_syndrome_4	0.674	0.68255	0.69209	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10817	315328	15	100882122	GC	G	340037	Benign	Weill-Marchesani_syndrome_4	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10818	587793	15	101109677	C	A	579916	Benign	History_of_neurodevelopmental_disorder	0.40612	0.38499	0.3115	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10819	587795	15	101109794	C	G	579918	Benign	History_of_neurodevelopmental_disorder	0.40612	0.38484	0.3115	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10820	587792	15	101109818	G	A	580207	Benign	History_of_neurodevelopmental_disorder	0.50215	0.50561	0.45627	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10821	587794	15	101109893	C	A	580213	Benign	History_of_neurodevelopmental_disorder	0.40612	0.38475	0.3117	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10822	587791	15	101110265	T	A	579973	Benign	History_of_neurodevelopmental_disorder	0.40557	.	0.3115	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10823	587799	15	101110302	C	G	579971	Benign	History_of_neurodevelopmental_disorder	0.3389	0.34384	0.25479	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10824	587782	15	101113950	A	G	579925	Benign	History_of_neurodevelopmental_disorder	0.41942	0.38853	0.32748	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10825	587790	15	101114418	G	A	579990	Benign	History_of_neurodevelopmental_disorder	0.39921	0.38674	0.3143	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10826	587785	15	101120963	T	C	579999	Benign	History_of_neurodevelopmental_disorder	0.38805	0.38358	0.29852	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10827	683870	15	101425703	T	C	667937	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10828	677157	15	101436307	C	T	667941	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10829	256761	15	101445900	G	A	255126	Benign	not_specified|not_provided	0.14709	0.20456	0.21346	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10830	677159	15	101448571	T	A	667669	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10831	672053	15	101717680	G	T	656277	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10832	439108	16	223706	A	G	432860	Benign	not_specified	.	.	0.99701	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10833	402921	16	223735	A	G	390135	Benign	not_specified	.	.	0.93391	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10834	402405	16	396264	A	G	390297	Benign	not_specified	0.71413	0.62184	0.63898	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10835	257169	16	774520	C	T	255863	Benign	not_specified	0.42182	0.60797	0.58966	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10836	128631	16	774692	A	G	134080	Benign	not_specified	0.53594	0.60387	0.70088	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10837	257165	16	775947	G	C	255867	Benign	not_specified	0.20317	.	0.15974	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10838	257162	16	775954	CC	AA	255869	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10839	768735	16	817016	AGCCAGGGAGTCCCTG	A	778218	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10840	96005	16	1252369	C	T	101900	Benign	Epilepsy,_childhood_absence_6|not_specified|no...	0.22353	.	0.4399	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10841	96008	16	1254369	C	T	38427	Benign	not_specified|not_provided	0.0738	.	0.04673	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10842	96011	16	1260481	T	C	101905	Benign	Epilepsy,_childhood_absence_6|not_specified|no...	0.84704	0.86015	0.91993	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10843	585639	16	1260636	G	A	577430	Benign	not_provided	0.04788	0.06061	0.03355	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10844	585642	16	1261219	A	G	577432	Benign	not_provided	0.64321	0.64312	0.70967	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10845	585643	16	1261222	A	G	577433	Benign	not_provided	0.64353	0.64323	0.70967	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10846	585644	16	1261282	T	C	577434	Benign	not_provided	0.84797	0.85969	0.91773	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10847	585650	16	1268013	G	C	577440	Benign	not_provided	0.04325	0.07991	0.03275	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10848	585651	16	1268376	G	A	577441	Benign	not_provided	0.04162	0.09794	0.03175	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10849	585653	16	1268494	C	T	577443	Benign	not_provided	0.65101	0.62243	0.69908	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10850	518260	16	1269029	T	C	508885	Benign	Epilepsy,_childhood_absence_6|not_provided	0.66044	0.61036	0.69169	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10851	585654	16	1269095	C	T	577444	Benign	not_provided	0.03892	0.09078	0.03275	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10852	96016	16	1270162	G	A	101910	Benign	Epilepsy,_childhood_absence_6|not_specified|no...	0.64683	0.66278	0.70068	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10853	96018	16	1270349	T	C	101912	Benign	Epilepsy,_childhood_absence_6|not_specified|no...	0.85967	0.85827	0.91394	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10854	317904	16	1495006	C	G	341950	Benign	Osteopetrosis	.	.	0.66134	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10855	317912	16	1495243	T	G	333780	Benign	Osteopetrosis	.	.	0.91893	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10856	317913	16	1495300	G	A	340566	Benign	Osteopetrosis	.	.	0.46965	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10857	317926	16	1495897	G	A	333791	Benign	Osteopetrosis	.	.	0.58706	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10858	257949	16	1503879	T	A	255466	Benign	Osteopetrosis|not_specified	0.50931	.	0.55591	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10859	317981	16	1560886	A	G	324309	Benign	Renal_dysplasia,_retinal_pigmentary_dystrophy,...	.	.	0.38978	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10860	516182	16	1573810	A	G	505581	Benign	Renal_dysplasia,_retinal_pigmentary_dystrophy,...	0.96391	0.96454	0.98443	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10861	129260	16	1574863	G	A	134706	Benign	Renal_dysplasia,_retinal_pigmentary_dystrophy,...	0.18811	0.19852	0.23103	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10862	129259	16	1608082	A	G	134705	Benign	Renal_dysplasia,_retinal_pigmentary_dystrophy,...	0.30743	0.25633	0.34744	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10863	129258	16	1614097	A	G	134704	Benign	Renal_dysplasia,_retinal_pigmentary_dystrophy,...	0.42299	0.39087	0.50519	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10864	318223	16	1657284	C	G	334063	Benign	Renal_dysplasia,_retinal_pigmentary_dystrophy,...	0.43845	0.40035	0.51498	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10865	318265	16	1842209	A	G	334129	Benign	Acid-labile_subunit_deficiency	0.81986	.	0.78415	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10866	318273	16	1843672	T	C	324568	Benign	Acid-labile_subunit_deficiency	0.71762	0.69991	0.66873	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10867	671762	16	2033941	C	A	668649	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10868	671621	16	2033970	C	G	668341	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10869	671622	16	2034137	C	T	668167	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10870	676125	16	2035762	T	C	668170	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10871	676126	16	2035784	C	T	668660	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10872	49958	16	2105335	C	G	59120	not_provided	Tuberous_sclerosis_syndrome	.	.	0.15336	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10873	49957	16	2105400	C	T	59119	Benign	Neoplasm_of_brain|Hereditary_cancer-predisposi...	0.12842	0.08711	0.09205	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10874	675047	16	2110571	C	G	668366	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10875	49143	16	2111779	T	C	58305	Benign	not_provided	.	.	0.61062	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10876	49695	16	2115481	C	T	58857	Benign	Tuberous_sclerosis_syndrome|not_specified|not_...	0.07387	0.07124	0.03934	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10877	677145	16	2115819	A	G	668375	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10878	65157	16	2120402	T	C	76088	Benign	Tuberous_sclerosis_syndrome|not_provided	.	.	0.39337	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10879	65253	16	2136624	T	C	76185	Benign	Tuberous_sclerosis_syndrome|not_provided	.	.	0.24121	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10880	49431	16	2138218	A	C	58593	Benign	Tuberous_sclerosis_syndrome|Tuberous_sclerosis...	0.32849	0.20672	0.25699	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10881	49895	16	2138269	T	C	59057	Benign	Hereditary_cancer-predisposing_syndrome|Tubero...	0.33246	0.18828	0.27636	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10882	49420	16	2138398	C	T	58582	Benign	Tuberous_sclerosis_syndrome|not_specified|not_...	0.20146	0.11018	0.16773	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10883	49976	16	2138422	C	G	59138	Benign	Tuberous_sclerosis_syndrome|Tuberous_sclerosis...	0.2313	0.12096	0.20088	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10884	256921	16	2140010	A	G	255507	Benign	Polycystic_kidney_disease,_adult_type|not_spec...	0.33032	.	0.27796	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10885	256917	16	2140454	T	C	255511	Benign	Polycystic_kidney_disease,_adult_type|not_spec...	0.3261	.	0.27636	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10886	256913	16	2140680	T	C	255514	Benign	Polycystic_kidney_disease,_adult_type|not_spec...	0.31104	0.19094	0.252	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10887	257034	16	2152651	T	C	255553	Benign	Polycystic_kidney_disease,_adult_type|not_spec...	0.27843	0.1646	0.22065	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10888	440071	16	2154478	A	G	433189	Benign	Polycystic_kidney_disease,_adult_type	.	.	0.63259	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10889	257004	16	2156021	A	G	255582	Benign	Polycystic_kidney_disease,_adult_type|not_spec...	.	.	0.17772	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10890	256997	16	2156850	A	G	255589	Benign	Polycystic_kidney_disease,_adult_type|not_spec...	.	0.18749	0.24261	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10891	256968	16	2160503	T	G	255617	Benign	Polycystic_kidney_disease,_adult_type|not_spec...	0.28264	.	0.22165	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10892	256944	16	2162839	T	C	255640	Benign	Polycystic_kidney_disease,_adult_type|not_spec...	0.04133	0.03738	0.01997	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10893	256942	16	2162887	A	G	255642	Benign	Polycystic_kidney_disease,_adult_type|not_spec...	0.22576	0.11047	0.18291	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10894	256929	16	2165630	T	C	255655	Benign	Polycystic_kidney_disease,_adult_type|not_spec...	0.22783	0.18833	0.22664	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10895	162672	16	2331430	A	G	175790	Benign	not_specified	0.86942	0.91921	0.90096	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10896	775366	16	2498949	G	T	703568	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10897	318648	16	2552650	G	A	341030	Uncertain_significance	Myoclonic_epilepsy,_familial_infantile	.	.	0.00699	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10898	318677	16	2553869	A	T	342579	Benign	Myoclonic_epilepsy,_familial_infantile	.	.	0.45547	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10899	318688	16	2554553	G	A	342594	Uncertain_significance	Myoclonic_epilepsy,_familial_infantile	.	.	0.0004	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10900	768742	16	3142911	C	G	703649	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10901	319086	16	3292085	C	A	341340	Likely_benign	Familial_Mediterranean_fever	.	.	0.65096	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10902	319088	16	3292304	C	CAGT	325218	Likely_benign	Familial_Mediterranean_fever	.	.	0.64996	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10903	319092	16	3292398	A	G	325223	Likely_benign	Familial_Mediterranean_fever	.	.	0.69429	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10904	319101	16	3292672	CAAA	C	334887	Likely_benign	Familial_Mediterranean_fever	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10905	224065	16	3292874	C	T	225792	Likely_benign	Familial_Mediterranean_fever	.	.	0.64617	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10906	224064	16	3292896	C	T	225793	Likely_benign	Familial_Mediterranean_fever	.	.	0.63978	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10907	36505	16	3293888	C	T	45167	Benign	Familial_Mediterranean_fever|not_specified	0.42358	.	0.35363	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10908	439880	16	3293922	A	T	433684	Benign	not_specified	0.40565	.	0.3113	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10909	676934	16	3294678	G	A	668336	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10910	667833	16	3294931	A	C	667523	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10911	439879	16	3296429	G	A	433683	Benign	not_specified	.	.	0.45407	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10912	439878	16	3296616	C	T	433682	Benign	not_specified|not_provided	0.43999	.	0.45407	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10913	36503	16	3297073	A	G	45165	Benign/Likely_benign	Familial_Mediterranean_fever|not_specified	0.58419	0.61043	0.66314	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10914	255615	16	3297175	T	C	255706	Benign/Likely_benign	Familial_Mediterranean_fever|not_specified	0.56857	0.6057	0.65056	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10915	36500	16	3297181	C	T	45162	Benign/Likely_benign	Familial_Mediterranean_fever|not_specified	0.56657	0.60267	0.63898	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10916	667831	16	3298642	G	A	668504	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10917	36515	16	3299749	G	A	45177	Benign/Likely_benign	Familial_Mediterranean_fever|not_specified	0.59566	0.62835	0.6907	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10918	36512	16	3304463	C	T	45174	Benign/Likely_benign	Familial_Mediterranean_fever|not_specified	0.18032	0.2555	0.13598	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10919	36511	16	3304573	G	T	45173	Benign/Likely_benign	Familial_Mediterranean_fever|not_specified	0.46697	0.49074	0.38638	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10920	36510	16	3304654	T	C	45172	Benign/Likely_benign	Familial_Mediterranean_fever|not_specified	0.46637	.	0.38658	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10921	36509	16	3304762	A	G	45171	Benign/Likely_benign	Familial_Mediterranean_fever|not_specified	0.47631	0.43818	0.38938	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10922	260710	16	3724465	G	C	255737	Benign	not_specified|not_provided	0.33169	.	0.39277	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10923	260709	16	3726160	A	G	255738	Benign	not_specified	0.9242	0.9303	0.96705	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10924	96224	16	4386814	T	C	102118	Benign	Nephronophthisis|not_specified|not_provided	0.97499	0.97962	0.99121	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10925	319241	16	4388139	G	A	341474	Benign	Nephronophthisis	.	.	0.15355	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10926	319394	16	4847169	G	A	341579	Benign	Kohlschutter's_syndrome	.	.	0.39577	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10927	319396	16	4847317	C	T	325480	Benign	Kohlschutter's_syndrome	.	.	0.39796	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10928	319413	16	4852892	G	C	335133	Benign	Kohlschutter's_syndrome	.	.	0.38898	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10929	260705	16	5075542	G	A	255780	Benign	not_specified	0.71725	0.70167	0.79253	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10930	260704	16	5075633	G	A	255781	Benign	not_specified	0.2764	0.30098	0.20088	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10931	260703	16	5077395	TGGGAGGA	T	255782	Likely_benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10932	260708	16	5078841	T	C	255783	Benign	not_specified	0.99969	.	0.9992	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10933	260707	16	5080523	C	T	255784	Benign	not_specified	0.2333	0.22892	0.1851	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10934	260706	16	5083483	T	C	255785	Benign	not_specified	0.6829	0.71019	0.73023	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10935	95935	16	5122072	G	GGTCT	101831	Benign	Congenital_disorder_of_glycosylation_type_1K|n...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10936	95936	16	5123270	C	T	101832	Benign	not_specified	0.24142	.	0.17672	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10937	803210	16	6533549	C	A	791630	Benign	Idiopathic_generalized_epilepsy	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10938	320841	16	8839954	A	G	344189	Benign	Gamma-aminobutyric_acid_transaminase_deficienc...	0.51401	0.58413	0.5008	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10939	320843	16	8841960	T	C	336367	Benign	Gamma-aminobutyric_acid_transaminase_deficienc...	0.47576	0.57041	0.46945	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10940	321071	16	8858580	T	A	344196	Benign	Gamma-aminobutyric_acid_transaminase_deficiency	0.85901	0.89854	0.82588	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10941	321082	16	8868776	C	A	326555	Benign	Gamma-aminobutyric_acid_transaminase_deficienc...	0.32261	0.38555	0.31749	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10942	321094	16	8875529	G	T	342608	Benign	Gamma-aminobutyric_acid_transaminase_deficiency	.	.	0.3738	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10943	321104	16	8875799	G	A	336390	Benign	Gamma-aminobutyric_acid_transaminase_deficiency	.	.	0.37121	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10944	321107	16	8876202	C	G	326569	Benign	Gamma-aminobutyric_acid_transaminase_deficiency	.	.	0.38498	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10945	321109	16	8876277	G	C	326573	Benign	Gamma-aminobutyric_acid_transaminase_deficiency	.	.	0.60643	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10946	321111	16	8876418	G	A	342626	Benign	Gamma-aminobutyric_acid_transaminase_deficiency	.	.	0.55032	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10947	321126	16	8876880	T	A	344235	Benign	Gamma-aminobutyric_acid_transaminase_deficiency	.	.	0.38618	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10948	321134	16	8877220	T	C	342650	Benign	Gamma-aminobutyric_acid_transaminase_deficiency	.	.	0.90815	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10949	321139	16	8877401	G	A	344245	Benign	Gamma-aminobutyric_acid_transaminase_deficiency	.	.	0.60683	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10950	321145	16	8877854	C	G	342652	Benign	Gamma-aminobutyric_acid_transaminase_deficiency	.	.	0.60543	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10951	495797	16	8904877	T	TATG	487926	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10952	92802	16	8905054	T	C	98709	Benign	Congenital_disorder_of_glycosylation,_type_Ia|...	0.43742	0.46536	0.38119	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10953	321232	16	8941934	C	A	326761	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.39617	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10954	321248	16	8942473	G	C	326771	Benign	Congenital_disorder_of_glycosylation	.	.	0.92093	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10955	321471	16	9848471	T	G	336832	Benign	Epilepsy,_focal,_with_speech_disorder_and_with...	.	.	0.7506	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10956	321501	16	9850397	A	G	336853	Benign	Epilepsy,_focal,_with_speech_disorder_and_with...	.	.	0.42332	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10957	321514	16	9850857	G	C	336862	Benign	Epilepsy,_focal,_with_speech_disorder_and_with...	.	.	0.41633	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10958	321515	16	9850878	T	C	344757	Benign	Epilepsy,_focal,_with_speech_disorder_and_with...	.	.	0.41733	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10959	321519	16	9851122	C	T	343130	Benign	Epilepsy,_focal,_with_speech_disorder_and_with...	.	.	0.36761	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10960	321520	16	9851188	G	A	343131	Benign	Epilepsy,_focal,_with_speech_disorder_and_with...	.	.	0.7522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10961	321565	16	9854389	C	G	343154	Benign	Epilepsy,_focal,_with_speech_disorder_and_with...	.	.	0.374	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10962	321583	16	9855794	G	A	336920	Benign	Epilepsy,_focal,_with_speech_disorder_and_with...	.	.	0.26817	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10963	681804	16	9862556	G	T	668744	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10964	129192	16	9916204	C	G	134638	Benign	History_of_neurodevelopmental_disorder|Epileps...	0.35109	0.26482	0.28115	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10965	675086	16	9923179	G	A	669016	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10966	674884	16	9935066	T	G	668617	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10967	681643	16	9943432	G	T	667736	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10968	129190	16	9943666	C	T	134636	Benign	History_of_neurodevelopmental_disorder|Epileps...	0.29652	0.2542	0.22584	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10969	681642	16	9943995	A	G	668765	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10970	683415	16	9984523	C	T	667740	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10971	258093	16	10631945	G	A	255451	Benign	not_specified	0.42335	.	0.41973	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10972	402538	16	10995933	A	G	390078	Benign	Bare_lymphocyte_syndrome_2|not_specified	0.98315	0.99586	0.98722	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10973	317717	16	11002904	G	A	323996	Benign	Bare_lymphocyte_syndrome_2|not_specified	0.63468	0.68396	0.66314	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10974	317718	16	11002927	A	G	323999	Benign	Bare_lymphocyte_syndrome_2|not_specified	0.91989	0.97872	0.92871	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10975	317725	16	11016045	C	T	324017	Likely_benign	Bare_lymphocyte_syndrome_2	0.09805	0.10088	0.10483	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10976	317727	16	11017728	G	C	341801	Likely_benign	Bare_lymphocyte_syndrome_2	.	.	0.07189	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10977	317747	16	11018622	T	C	341808	Benign	Bare_lymphocyte_syndrome_2	.	.	0.69169	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10978	684091	16	11650057	T	C	668090	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10979	683058	16	11650325	G	A	668536	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10980	684077	16	11650887	C	T	667277	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10981	259686	16	14026007	G	A	255455	Benign	Xeroderma_pigmentosum|not_specified	0.98461	.	0.94649	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10982	317845	16	14043912	G	A	333761	Uncertain_significance	Xeroderma_pigmentosum	.	.	0.001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10983	317871	16	14045643	G	A	324203	Uncertain_significance	Xeroderma_pigmentosum	.	.	0.001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10984	672359	16	15813945	C	T	667306	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10985	138342	16	15818141	A	C	142045	Benign/Likely_benign	Aortic_aneurysm,_familial_thoracic_4|Thoracic_...	0.45898	.	0.41014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10986	318129	16	15818991	TA	T	333972	Uncertain_significance	Lissencephaly,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10987	138334	16	15820863	C	T	142037	Benign/Likely_benign	Aortic_aneurysm,_familial_thoracic_4|Thoracic_...	0.20679	0.24569	0.20387	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10988	672357	16	15831212	G	A	667315	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10989	680674	16	15832141	C	G	667318	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10990	670997	16	15838940	G	C	668285	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10991	138330	16	15839034	G	A	142033	Benign/Likely_benign	Thoracic_aortic_aneurysm_and_aortic_dissection...	0.2632	0.29751	0.25359	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10992	678515	16	15839328	C	G	668287	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10993	672356	16	15843899	G	A	668296	Benign	Aortic_aneurysm,_familial_thoracic_4|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10994	672355	16	15850004	T	C	668301	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10995	138327	16	15850204	A	G	142030	Benign/Likely_benign	Thoracic_aortic_aneurysm_and_aortic_dissection...	0.499	0.4437	0.54812	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10996	138371	16	15853596	C	G	142074	Benign/Likely_benign	Thoracic_aortic_aneurysm_and_aortic_dissection...	0.47322	0.41639	0.53434	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10997	680657	16	15870309	A	G	668315	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10998	680653	16	15916861	A	C	668329	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
10999	680648	16	15932374	C	T	667347	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11000	126852	16	16169566	C	T	132366	Uncertain_significance	Familial_cancer_of_breast	.	.	0.5611	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11001	126860	16	16177687	G	A	132374	Uncertain_significance	Familial_cancer_of_breast	.	.	0.80371	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11002	433369	16	16243973	C	T	426779	Benign	Pseudoxanthoma_elasticum	0.05694	0.07013	0.06629	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11003	433280	16	16271409	G	A	426928	Benign	Pseudoxanthoma_elasticum	0.18816	0.13953	0.15156	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11004	433247	16	16278863	G	T	426987	Benign	Pseudoxanthoma_elasticum	0.45306	0.41518	0.33267	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11005	433246	16	16278869	G	C	426988	Benign	Pseudoxanthoma_elasticum	0.45306	0.41515	0.33267	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11006	433244	16	16281007	A	G	426990	Benign	Pseudoxanthoma_elasticum	0.46398	0.42612	0.33946	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11007	433383	16	16291858	G	C	427023	Benign	Pseudoxanthoma_elasticum	0.67372	.	0.73143	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11008	433382	16	16291871	G	C	427024	Benign	Pseudoxanthoma_elasticum	0.73811	.	0.78794	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11009	433228	16	16291971	C	T	427028	Benign	Pseudoxanthoma_elasticum	0.30603	0.30672	0.23223	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11010	143117	16	16291983	A	G	152835	Likely_benign	not_provided	0.3133	0.3384	0.28275	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11011	143120	16	16302586	T	C	152838	Conflicting_interpretations_of_pathogenicity	Pseudoxanthoma_elasticum|not_provided	.	0.05976	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11012	669474	16	19078630	A	T	668335	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11013	683572	16	19079095	T	G	668160	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11014	683574	16	19083035	G	A	668645	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11015	683575	16	19083221	A	G	668337	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11016	683576	16	19083549	C	T	667359	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11017	678528	16	19085298	C	T	656341	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11018	669795	16	19086764	C	CGCCT	668165	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11019	683582	16	19089098	G	A	668340	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11020	402512	16	19547747	C	G	390286	Benign	not_specified	0.92758	0.86814	0.82808	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11021	318299	16	20362106	A	G	342241	Benign	not_specified|Uromodulin-associated_kidney_dis...	0.03106	0.02684	0.04014	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11022	402724	16	21078693	T	G	390162	Benign	not_specified	0.40917	.	0.44449	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11023	44241	16	21272591	G	C	53408	Benign	not_specified	0.53147	.	0.5026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11024	44237	16	21286927	A	G	53404	Benign	not_specified	0.28751	0.23428	0.20288	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11025	47954	16	21689879	T	A	57118	Benign	not_specified	0.0337	0.06236	0.10304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11026	682739	16	21690559	G	A	668216	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11027	47952	16	21730449	C	T	57116	Benign	not_specified	0.6411	0.63197	0.57668	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11028	318343	16	23197545	C	G	334228	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	0.20359	.	0.19689	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11029	318344	16	23197562	A	G	324670	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	0.20394	0.2378	0.19689	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11030	165172	16	23200761	T	C	176148	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	0.26943	0.30228	0.23902	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11031	165173	16	23200848	T	C	176006	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	0.26959	0.30177	0.23922	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11032	165174	16	23200923	C	T	176149	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	0.06411	0.06086	0.04453	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11033	165176	16	23221183	A	G	176008	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	0.75512	0.81062	0.78375	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11034	318367	16	23227362	A	G	334266	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	.	.	0.33946	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11035	318371	16	23227449	T	C	334268	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	.	.	0.33946	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11036	318373	16	23227579	T	C	340920	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	.	.	0.33886	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11037	165167	16	23360199	T	C	176011	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	0.66231	0.63547	0.78854	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11038	165170	16	23391401	G	A	176014	Benign	Pseudohypoaldosteronism_type_1_autosomal_reces...	0.01978	.	0.04133	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11039	318516	16	23534098	G	A	340995	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.78694	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11040	318518	16	23534249	G	C	342493	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.78694	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11041	318532	16	23535156	CT	C	324778	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11042	318536	16	23535307	CTCTGT	C	334395	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11043	318539	16	23535680	A	C	260348	Benign	Combined_oxidative_phosphorylation_deficiency	0.85007	0.83036	0.80212	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11044	680558	16	23536366	T	C	667432	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11045	671646	16	23536531	C	T	667437	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11046	137186	16	23536684	T	C	140889	Benign	not_specified|Combined_oxidative_phosphorylati...	0.84962	0.83063	0.80192	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11047	671552	16	23540798	C	T	668245	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11048	137185	16	23541223	G	A	140888	Benign	not_specified|Combined_oxidative_phosphorylati...	0.73682	0.75567	0.67312	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11049	680557	16	23544295	G	A	668733	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11050	137183	16	23546561	G	C	140886	Benign	not_specified|Combined_oxidative_phosphorylati...	0.85249	0.83081	0.80272	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11051	676118	16	23555726	C	T	668436	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11052	137191	16	23563501	C	T	140894	Benign	not_specified|Combined_oxidative_phosphorylati...	0.73434	0.75606	0.67472	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11053	126714	16	23625463	A	T	132224	Likely_benign	Familial_cancer_of_breast	.	0.99747	0.99681	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11054	679913	16	28489342	G	A	668458	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11055	668788	16	28495752	C	T	668267	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11056	668786	16	28499659	A	T	668740	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11057	318738	16	28853996	A	C	341082	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.26158	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11058	667506	16	28854769	A	G	668291	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11059	318747	16	28855727	A	G	341086	Benign	Combined_oxidative_phosphorylation_deficiency	0.34462	0.34544	0.26158	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11060	318760	16	28857645	A	G	342632	Benign	Combined_oxidative_phosphorylation_deficiency	.	.	0.34924	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11061	671198	16	28889486	C	A	668464	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11062	678078	16	28890131	C	A	668298	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11063	678079	16	28893532	A	G	667497	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11064	678080	16	28893571	T	C	668302	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11065	678081	16	28896015	C	T	667509	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11066	96545	16	28898793	T	C	102439	Benign	Brody_myopathy|not_specified|not_provided	0.40365	0.34819	0.33886	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11067	678082	16	28906084	G	C	668484	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11068	678083	16	28913787	T	C	668489	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11069	678094	16	28915217	G	A	668502	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11070	678201	16	28915433	A	C	667510	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11071	96539	16	28915527	G	A	102433	Benign	Brody_myopathy|not_specified|not_provided	0.75142	0.70601	0.81869	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11072	318803	16	28944396	C	G	341124	Benign	Common_variable_immunodeficiency_3|not_specifi...	0.76936	0.72932	0.83027	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11073	318805	16	28944700	G	T	324967	Benign	Common_Variable_Immune_Deficiency,_Recessive	0.27536	.	0.1871	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11074	318821	16	28950574	AGT	A	324989	Uncertain_significance	Common_Variable_Immune_Deficiency,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11075	803248	16	29814234	G	A	791581	Benign	Spondyloepimetaphyseal_dysplasia_with_joint_la...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11076	167544	16	29825126	T	C	177989	Benign	not_specified	0.99076	0.99796	0.99181	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11077	769898	16	30021402	C	T	703631	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11078	259450	16	30098189	GTGA	G	255674	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11079	512692	16	30119525	C	A	505610	Benign	not_specified	0.84562	0.88279	0.89517	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11080	260018	16	30718873	C	T	255677	Benign	not_specified	0.15584	0.15443	0.08327	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11081	195889	16	30734963	C	A	193050	Benign	not_specified	0.97607	0.99389	0.98123	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11082	160034	16	30735038	C	G	169197	Benign/Likely_benign	Floating-Harbor_syndrome|not_specified	0.01616	0.01346	0.00659	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11083	318927	16	30759716	T	C	341225	Benign	Glycogen_phosphorylase_kinase_deficiency	.	.	0.98143	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11084	255782	16	30762640	C	T	255685	Benign	not_specified	0.95844	0.98945	0.96745	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11085	318968	16	30914626	T	C	341249	Likely_benign	Dilated_Cardiomyopathy,_Dominant	.	.	0.58866	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11086	261873	16	30999142	A	G	255691	Benign	not_specified	0.52271	.	0.49341	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11087	261870	16	30999462	T	C	255696	Benign	not_specified	0.5244	0.60329	0.49281	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11088	225975	16	31103796	A	G	227784	drug_response	warfarin_response_-_Dosage|not_provided	.	.	0.60963	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11089	226026	16	31104509	C	G	227785	drug_response	not_specified|warfarin_response_-_Dosage	.	.	0.41633	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11090	37344	16	31104878	G	A	38302	drug_response	Warfarin_response|not_specified|acenocoumarol_...	.	.	0.35583	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11091	225960	16	31105353	G	A	227786	drug_response	warfarin_response_-_Dosage|not_provided	.	.	0.09365	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11092	2211	16	31107689	C	T	17250	Likely_benign,_other	Warfarin_response|not_specified|not_provided	.	.	0.35563	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11093	226015	16	31110981	G	A	227782	drug_response	warfarin_response_-_Dosage	.	.	0.52556	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11094	128521	16	31121793	G	A	133970	Benign	not_specified	0.30291	0.38031	0.35923	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11095	318979	16	31191482	A	G	334778	Benign	Amyotrophic_Lateral_Sclerosis,_Dominant	0.94328	0.9846	0.9391	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11096	259594	16	31193942	C	A	255698	Benign	Amyotrophic_lateral_sclerosis_type_6|not_speci...	0.21672	.	0.27895	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11097	319004	16	31203529	G	C	325136	Benign	Amyotrophic_Lateral_Sclerosis,_Dominant	.	0.42268	0.28175	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11098	319017	16	31204235	T	C	334828	Benign	Amyotrophic_Lateral_Sclerosis,_Dominant	.	0.99944	0.99101	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11099	703789	16	46708574	TA	T	695697	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11100	260386	16	46723598	T	C	255745	Benign	Meier-Gorlin_syndrome|not_specified|Parkinson_...	0.34123	0.42638	0.19409	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11101	257173	16	47684686	TATTA	T	255752	Likely_benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11102	319385	16	47735030	G	A	335120	Benign	Glycogen_phosphorylase_kinase_deficiency	.	.	0.99641	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11103	260529	16	49670390	A	G	255766	Benign	not_specified	0.21007	0.21653	0.20487	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11104	260538	16	49672520	A	G	255777	Benign	not_specified	0.57002	0.47961	0.57867	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11105	319429	16	50733859	C	G	341616	Benign	Blau_syndrome|Crohn_disease|not_specified	0.37088	.	0.24661	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11106	319450	16	50745583	T	G	341634	Benign	Blau_syndrome|Crohn_disease|not_specified	0.3358	0.33022	0.21605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11107	97869	16	50757276	G	A	103761	Benign/Likely_benign	Inflammatory_bowel_disease_1|Psoriatic_arthrit...	0.06902	0.06112	0.03335	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11108	319482	16	50766127	A	C	325520	Benign	Blau_syndrome|Crohn_disease	.	.	0.35823	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11109	319492	16	50766886	G	A	335201	Benign	Blau_syndrome|Crohn_disease	.	.	0.35224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11110	319586	16	51170434	CA	C	335255	Benign	Townes-Brocks_syndrome_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11111	258871	16	51171175	C	T	255786	Benign	Townes-Brocks_syndrome_1|not_specified	0.98838	0.99648	0.98682	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11112	667579	16	51171670	C	T	668339	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11113	258866	16	51173559	G	A	255790	Benign	Townes-Brocks_syndrome_1|not_specified	0.49192	.	0.53874	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11114	319624	16	53634295	C	T	343259	Likely_benign	Nephronophthisis|Joubert_syndrome|Meckel-Grube...	.	.	0.47664	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11115	319634	16	53635251	A	C	341775	Likely_benign	Nephronophthisis|Joubert_syndrome|Meckel-Grube...	.	.	0.47704	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11116	319645	16	53635933	A	T	335300	Likely_benign	Nephronophthisis|Joubert_syndrome|Meckel-Grube...	.	.	0.47704	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11117	671910	16	53636409	C	T	668775	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11118	319648	16	53644975	G	GA	325647	Uncertain_significance	Nephronophthisis|Joubert_syndrome|Meckel-Grube...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11119	95692	16	53656135	G	C	101589	Benign/Likely_benign	Nephronophthisis|Joubert_syndrome|Meckel-Grube...	.	0.22552	0.13698	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11120	126276	16	53672355	C	T	131808	Benign	not_specified|not_provided	0.4036	0.3575	0.48463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11121	217824	16	53800954	T	C	214481	risk_factor	OBESITY_(BMIQ14),_SUSCEPTIBILITY_TO	.	.	0.22863	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11122	319750	16	55519535	G	C	341847	Benign	Multicentric_Osteolysis-Nodulosis-Arthropathy_...	0.25677	0.30128	0.20008	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11123	319756	16	55523705	T	C	335387	Benign	Multicentric_Osteolysis-Nodulosis-Arthropathy_...	0.79932	0.83783	0.79992	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11124	319761	16	55527113	G	A	343361	Benign	Multicentric_Osteolysis-Nodulosis-Arthropathy_...	0.35919	.	0.32488	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11125	319766	16	55536687	A	G	325751	Benign	Multicentric_Osteolysis-Nodulosis-Arthropathy_...	0.44321	0.48409	0.48762	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11126	319768	16	55536727	C	T	335392	Benign	Multicentric_Osteolysis-Nodulosis-Arthropathy_...	0.36642	0.39504	0.30391	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11127	319769	16	55536763	C	G	335396	Likely_benign	Multicentric_Osteolysis-Nodulosis-Arthropathy_...	0.08102	.	0.03714	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11128	319776	16	55539614	A	C	343362	Benign	Multicentric_Osteolysis-Nodulosis-Arthropathy_...	.	.	0.29892	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11129	319789	16	55690425	C	T	325781	Likely_benign	Orthostatic_intolerance	.	.	0.753	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11130	319803	16	55731835	G	A	341872	Likely_benign	Orthostatic_intolerance	0.25808	.	0.23343	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11131	319805	16	55731946	G	A	335414	Likely_benign	Orthostatic_intolerance	0.25754	0.30374	0.22943	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11132	319820	16	55736656	T	C	335430	Uncertain_significance	Orthostatic_intolerance	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11133	319821	16	55736659	C	CA	335436	Likely_benign	Orthostatic_intolerance	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11134	319842	16	55737656	G	A	341888	Likely_benign	Orthostatic_intolerance	.	.	0.89357	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11135	585942	16	56368689	C	T	577548	Benign	History_of_neurodevelopmental_disorder|not_pro...	0.39766	0.43836	0.4974	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11136	261981	16	56545175	T	C	255825	Benign	Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|...	0.19545	0.20924	0.26358	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11137	285261	16	56548501	C	T	269498	Benign	Bardet-Biedl_syndrome_2|not_specified|not_prov...	.	0.99377	0.99641	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11138	369114	16	56554016	A	G	353343	Benign	Bardet-Biedl_syndrome	.	.	0.99701	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11139	504886	16	56904587	C	G	497694	Benign	Familial_hypokalemia-hypomagnesemia|not_specified	0.97322	0.97557	0.99062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11140	255880	16	56917953	T	C	255835	Benign	Familial_hypokalemia-hypomagnesemia|not_specified	0.47492	0.45897	0.57069	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11141	319917	16	56936319	C	T	341943	Benign/Likely_benign	Familial_hypokalemia-hypomagnesemia	0.03447	0.03057	0.05232	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11142	255891	16	56938387	C	T	255845	Benign	Familial_hypokalemia-hypomagnesemia|not_specified	0.34826	0.28717	0.33966	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11143	319924	16	56947522	A	G	325868	Benign	Familial_hypokalemia-hypomagnesemia	.	.	0.59125	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11144	319930	16	56947721	C	T	341960	Benign	Familial_hypokalemia-hypomagnesemia	.	.	0.54094	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11145	319938	16	56947981	G	C	343483	Benign	Familial_hypokalemia-hypomagnesemia	.	.	0.59125	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11146	319942	16	56948248	C	T	325884	Benign	Familial_hypokalemia-hypomagnesemia	.	.	0.5613	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11147	319951	16	56948841	C	T	325898	Benign	Familial_hypokalemia-hypomagnesemia	.	.	0.53994	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11148	319957	16	56949168	A	G	325902	Benign	Familial_hypokalemia-hypomagnesemia	.	.	0.5619	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11149	319984	16	57007353	C	T	343503	Benign	Hyperalphalipoproteinemia_1	0.07672	0.05355	0.05471	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11150	17525	16	57016092	G	A	32564	Benign	Hyperalphalipoproteinemia_1|High_density_lipop...	.	0.61648	0.53395	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11151	320000	16	57017662	G	A	325942	Benign	Hyperalphalipoproteinemia_1	.	.	0.15535	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11152	369116	16	57017762	C	G	353345	Benign	Hyperalphalipoproteinemia_1	.	.	0.76617	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11153	683585	16	57481670	T	C	668794	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11154	683587	16	57494178	T	C	668355	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11155	320014	16	57494992	C	A	325945	Likely_benign	Coenzyme_Q10_deficiency,_primary	.	.	0.11641	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11156	320015	16	57495026	T	C	325947	Benign	Coenzyme_Q10_deficiency,_primary	.	.	0.99261	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11157	679870	16	57673122	C	T	667748	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11158	683313	16	57689028	C	T	669039	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11159	137493	16	57689385	C	G	141196	Benign/Likely_benign	not_specified|not_provided	0.60519	.	0.72085	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11160	158640	16	57689805	A	C	169286	Benign	not_specified|not_provided	0.20883	0.19978	0.11302	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11161	158641	16	57689883	T	C	169287	Benign	not_specified|not_provided	0.78447	0.75658	0.81669	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11162	158615	16	57691265	C	A	169291	Benign	not_specified	0.36696	.	0.29094	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11163	683315	16	57693055	C	T	668636	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11164	681781	16	57693247	G	A	668790	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11165	259865	16	57697532	T	G	255850	Benign	not_specified	0.76639	0.75644	0.84784	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11166	712324	16	57775651	C	T	726711	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11167	320027	16	57916776	T	G	335611	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.08566	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11168	320028	16	57916835	A	G	342033	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.10963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11169	320046	16	57917758	A	G	342038	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	.	0.08946	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11170	320053	16	57918035	T	C	335659	Likely_benign	Retinitis_Pigmentosa,_Recessive	0.10436	0.072	0.08546	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11171	320059	16	57921752	A	G	326000	Benign/Likely_benign	Retinitis_pigmentosa_45|Retinitis_Pigmentosa,_...	0.36797	0.31064	0.37021	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11172	194492	16	57974240	G	A	191655	Benign/Likely_benign	Retinitis_pigmentosa_45|not_specified|Retiniti...	0.43873	0.54304	0.40076	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11173	320109	16	57996932	G	A	335733	Benign/Likely_benign	Retinitis_pigmentosa_45|Retinitis_Pigmentosa,_...	0.36627	0.43042	0.3141	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11174	320110	16	57996960	C	T	342070	Benign	Retinitis_pigmentosa_45|Retinitis_Pigmentosa,_...	0.75496	.	0.752	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11175	402549	16	58577315	GA	G	390165	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11176	320206	16	68678638	C	CAA,CA	343681	Benign	EEM_syndrome	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11177	320212	16	68678746	A	G	343691	Benign	EEM_syndrome	.	.	0.17093	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11178	677162	16	68712217	T	C	668527	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11179	320227	16	68712730	C	A	342177	Benign	EEM_syndrome	0.18991	.	0.13978	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11180	320229	16	68713730	G	A	326126	Benign	EEM_syndrome|not_provided	0.6402	0.594	0.60783	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11181	320230	16	68713823	C	A	343710	Benign	EEM_syndrome|not_provided	0.64027	0.59396	0.60783	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11182	320243	16	68721470	T	C	342183	Benign	EEM_syndrome|not_provided	0.63604	0.58811	0.59744	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11183	320250	16	68725783	G	A	342187	Benign	EEM_syndrome|not_provided	0.62542	0.57856	0.57448	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11184	320258	16	68732457	G	T	342193	Benign	EEM_syndrome	.	.	0.8109	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11185	136692	16	68771372	C	T	140395	Benign	Hereditary_cancer-predisposing_syndrome|Heredi...	0.86033	0.81114	0.76338	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11186	676887	16	68847576	A	G	668405	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11187	142770	16	68857441	T	C	152484	Benign	Hereditary_cancer-predisposing_syndrome|Heredi...	0.71614	0.65481	0.71865	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11188	320281	16	68867991	C	T	326168	Benign	Hereditary_diffuse_gastric_cancer	.	.	0.10304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11189	369122	16	68869449	A	G	353351	Benign	Hereditary_diffuse_gastric_cancer	.	.	0.99481	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11190	225971	16	69143577	A	G	227789	drug_response	anthracyclines_and_related_substances_response...	0.32641	.	0.34225	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11191	676109	16	69365123	G	T	668529	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11192	96220	16	69373414	T	C	102114	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.32437	.	0.25759	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11193	16809	16	69745145	G	A	31848	drug_response	Lung_cancer|Benzene_toxicity,_susceptibility_t...	.	0.24516	0.28894	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11194	320325	16	70287177	A	G	335871	Benign	Charcot-Marie-Tooth_disease,_type_2|Charcot-Ma...	0.84918	0.8241	0.88119	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11195	676230	16	70299692	TGCCCATCAGAAAATCCA	T	667573	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11196	803270	16	70531754	T	G	791639	Benign	Congenital_disorder_of_glycosylation_type_2J	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11197	95699	16	70546234	G	A	101596	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.38181	0.4511	0.47025	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11198	380059	16	70548219	A	T	377764	Benign	not_specified	0.05725	0.06352	0.04633	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11199	95697	16	70548297	G	A	101594	Benign	Congenital_disorder_of_glycosylation|Congenita...	0.9556	0.94743	0.95947	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11200	402954	16	70954915	G	T	390205	Benign	not_specified	0.99374	.	0.999	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11201	402955	16	70972595	T	C	390115	Benign	Ciliary_dyskinesia,_primary,_5|not_specified	.	0.61642	0.45387	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11202	808074	16	70986425	T	C	797374	Uncertain_significance	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11203	402956	16	71015329	G	T	390310	Benign	not_specified	.	0.40871	0.46725	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11204	402957	16	71163693	A	G	390116	Benign	not_specified	.	0.38474	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11205	402958	16	71220755	A	G	390175	Benign	not_specified	0.04309	0.04117	0.01857	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11206	402959	16	71264523	T	A	390176	Benign	not_specified	.	0.37299	0.40535	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11207	320449	16	72058672	G	T	336023	Benign	Miller_syndrome	.	.	0.54453	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11208	320453	16	72058881	A	G	326286	Benign	Miller_syndrome	.	.	0.54373	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11209	320459	16	72059149	A	G	336034	Benign	Miller_syndrome	.	.	0.54493	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11210	320461	16	72059269	T	C	336037	Benign	Miller_syndrome	.	.	0.54393	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11211	768789	16	72110948	C	G	703799	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11212	768791	16	72991715	A	G	703805	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11213	320466	16	74747024	G	C	326302	Benign	Spastic_paraplegia_35	.	.	0.2504	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11214	320477	16	74747451	C	G	342319	Benign	Spastic_paraplegia_35	.	.	0.23782	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11215	129032	16	74750396	T	C	134478	Benign/Likely_benign	Spastic_paraplegia_35|not_specified	0.16936	0.11951	0.11601	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11216	129031	16	74750405	G	A	134477	Benign	Spastic_paraplegia_35|not_specified	0.78116	0.7732	0.72524	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11217	680134	16	74753079	C	T	668415	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11218	129028	16	74808425	G	A	134474	Benign	Spastic_paraplegia_35|not_specified	0.3213	0.3587	0.249	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11219	369127	16	74808737	C	G	353356	Benign	Spastic_paraplegia_35|not_provided	.	.	0.6851	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11220	320505	16	75507094	C	T	336068	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.65815	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11221	320507	16	75507253	T	A	343959	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.79273	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11222	320519	16	75508173	A	G	342351	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.38439	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11223	320520	16	75508234	A	G	336084	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.51438	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11224	320527	16	75508720	C	G	326345	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.54074	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11225	320531	16	75508797	G	A	343972	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.46586	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11226	320539	16	75509312	CAG	C	343978	Benign	Macular_corneal_dystrophy_Type_I	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11227	320552	16	75510212	G	A	342363	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.20787	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11228	320557	16	75510515	G	C	336122	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.52177	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11229	320558	16	75510572	G	A	326366	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.97664	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11230	320559	16	75510620	G	A	342366	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.53195	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11231	320561	16	75510646	CT	C	326370	Benign	Macular_corneal_dystrophy_Type_I	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11232	320567	16	75510973	A	C	326376	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.50799	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11233	320596	16	75512296	G	GC	326392	Benign	Macular_corneal_dystrophy_Type_I	.	.	0.55671	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11234	320611	16	75513243	G	C	342409	Benign/Likely_benign	Macular_corneal_dystrophy_Type_I	0.03868	.	0.01757	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11235	130591	16	75574030	C	T	136037	Benign	not_specified	0.04373	0.17402	0.27017	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11236	669396	16	75589407	G	A	668419	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11237	130587	16	75590092	G	C	136033	Benign	Joubert_syndrome_20|not_specified	0.05809	0.28133	0.28914	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11238	803274	16	77401545	A	G	791643	Benign	Microcornea,_myopic_chorioretinal_atrophy,_and...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11239	670330	16	78148830	C	T	667608	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11240	260738	16	78149067	A	C	255878	Benign	not_specified	0.23051	.	0.17592	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11241	670331	16	78149173	A	C	668900	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11242	670333	16	78197911	T	C	668429	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11243	260739	16	78198192	T	C	255879	Benign	not_specified|not_provided	0.74345	0.74821	0.78914	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11244	586944	16	78312497	C	A	577569	Benign	not_provided	0.46197	0.45947	0.47224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11245	260740	16	78420775	G	A	255880	Benign	Epileptic_encephalopathy,_early_infantile,_1|n...	0.45934	.	0.26338	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11246	668842	16	78421128	G	C	667618	Likely_benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11247	540240	16	78658393	T	G	530280	Benign	not_provided	.	.	0.50399	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11248	670869	16	79245465	T	C	668476	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11249	682664	16	81348396	G	T	668481	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11250	673442	16	81348484	A	G	668624	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11251	680312	16	81349106	T	G	668955	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11252	680313	16	81385525	C	T	668634	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11253	682665	16	81387727	A	G	668635	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11254	682666	16	81395801	C	T	668483	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11255	680740	16	81395918	A	G	668637	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11256	637432	16	81396287	C	T	625349	Benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11257	669768	16	81397079	G	GA	667627	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11258	681702	16	81397166	T	C	668490	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11259	682667	16	81397804	T	C	668494	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11260	680741	16	81398520	G	A	668639	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11261	129131	16	81398635	C	T	134577	Benign	Giant_axonal_neuropathy_1|not_specified	0.22978	0.19544	0.15116	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11262	681715	16	81399305	G	A	668501	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11263	320664	16	81411282	T	C	336177	Likely_benign	Giant_axonal_neuropathy_1	.	.	0.01298	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11264	320668	16	81411448	G	A	344092	Benign	Giant_axonal_neuropathy_1	.	.	0.6276	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11265	320674	16	81411673	C	G	336184	Benign	Giant_axonal_neuropathy_1	.	.	0.67113	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11266	320678	16	81411793	T	A	342450	Benign	Giant_axonal_neuropathy_1	.	.	0.64177	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11267	320683	16	81412168	G	A	336191	Benign	Giant_axonal_neuropathy_1	.	.	0.30551	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11268	320688	16	81412469	C	T	326450	Uncertain_significance	Giant_axonal_neuropathy_1	.	.	0.002	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11269	403316	16	81819768	T	C	390119	Benign	not_specified	0.66799	0.72477	0.73323	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11270	403317	16	81888152	A	G	390125	Benign	not_specified	0.25572	.	0.21206	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11271	403318	16	81892708	T	A	390128	Benign	not_specified	0.55696	0.55093	0.54113	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11272	403320	16	81929488	C	T	390208	Benign	not_specified	0.28848	0.4158	0.40655	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11273	403322	16	81941319	C	T	390314	Benign	not_specified	0.72252	.	0.77496	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11274	403323	16	81954789	C	G	390182	Benign	not_specified	0.46815	.	0.51977	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11275	403324	16	81971403	T	C	390147	Benign	not_specified	0.4056	0.44867	0.3139	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11276	257644	16	82673047	C	T	255899	Benign	not_specified	.	0.99593	0.9387	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11277	257649	16	83065664	G	A	255902	Benign	not_specified	0.55346	.	0.53415	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11278	257647	16	83817019	A	G	255908	Benign	not_specified	0.81491	0.81078	0.81609	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11279	95501	16	83933296	T	C	101400	Benign	Deficiency_of_malonyl-CoA_decarboxylase|not_sp...	0.96756	.	0.95707	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11280	768800	16	84070514	A	C	778222	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11281	291145	16	84075563	C	A	275382	Benign	not_specified	0.56769	.	0.58506	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11282	163086	16	84209634	C	G	176164	Benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	0.51069	0.52799	0.53175	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11283	262933	16	84211483	C	T	255935	Benign	Primary_ciliary_dyskinesia|not_specified	0.49131	0.51063	0.5018	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11284	402596	16	84213434	A	T	390214	Benign	not_specified	0.30972	0.40075	0.32029	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11285	320801	16	86546887	T	C	336334	Benign	Persistent_fetal_circulation	.	.	0.85024	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11286	320809	16	86547153	A	AT	336352	Benign	Persistent_fetal_circulation	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11287	320818	16	86547355	A	G	344175	Benign	Persistent_fetal_circulation	.	.	0.81789	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11288	320822	16	86547496	C	T	344178	Benign	Persistent_fetal_circulation	.	.	0.52736	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11289	320831	16	86547855	CTT	CT,C	344180	Benign	Persistent_fetal_circulation	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11290	379947	16	87960560	A	T	375545	Benign	not_specified|not_provided	0.43753	0.42988	0.27796	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11291	193177	16	88494947	T	C	190342	Benign	Brittle_cornea_syndrome_1|not_specified	.	0.98273	0.98902	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11292	193178	16	88494976	A	C	190343	Benign	Brittle_cornea_syndrome_1|not_specified	.	.	0.85503	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11293	320866	16	88495407	G	C	336441	Benign	Brittle_cornea_syndrome_1|not_specified	.	0.99955	0.99161	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11294	320872	16	88495654	A	G	336442	Benign	Brittle_cornea_syndrome_1|not_specified	.	0.94436	0.8748	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11295	193173	16	88497031	T	C	190338	Benign	Brittle_cornea_syndrome_1|not_specified	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11296	285444	16	88497400	G	A	269681	Benign	Brittle_cornea_syndrome_1|not_specified	.	0.96031	0.90256	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11297	285445	16	88497446	A	G	269682	Benign	Brittle_cornea_syndrome_1|not_specified	0.814	0.90217	0.81889	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11298	281205	16	88498221	C	T	265442	Benign	Brittle_cornea_syndrome_1|not_specified	0.87725	0.87483	0.84425	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11299	285042	16	88498297	T	G	269279	Benign	Brittle_cornea_syndrome_1|not_specified	0.83969	0.92777	0.84645	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11300	320943	16	88499539	C	G	336479	Benign	Brittle_cornea_syndrome_1|not_specified	0.81966	0.86478	0.77955	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11301	288513	16	88502482	C	T	272750	Benign	Brittle_cornea_syndrome_1|not_specified	.	0.53451	0.47005	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11302	195125	16	88502505	A	G	192286	Benign	Brittle_cornea_syndrome_1|not_specified	0.99518	0.99834	0.99621	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11303	195114	16	88504868	A	G	192275	Benign	Brittle_cornea_syndrome_1|not_specified	0.99978	0.99981	0.9992	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11304	321031	16	88505635	A	G	326742	Benign	Brittle_cornea_syndrome_1|not_specified	0.77566	0.78855	0.79633	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11305	321034	16	88505734	C	T	336532	Benign	Brittle_cornea_syndrome_1|not_specified	0.98795	0.99574	0.98722	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11306	321047	16	88506287	G	GGCCTCCTCCCTCTGACCACAGGGTCAT	342833	Benign	Brittle_cornea_syndrome_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11307	321051	16	88506358	T	G	342834	Benign	Brittle_cornea_syndrome_1	.	.	0.94728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11308	321056	16	88506528	G	A	342835	Benign	Brittle_cornea_syndrome_1	.	.	0.98622	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11309	321059	16	88506599	AT	A	336547	Benign	Brittle_cornea_syndrome_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11310	321064	16	88506741	A	G	344469	Benign	Brittle_cornea_syndrome_1	.	.	0.84086	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11311	198042	16	88709828	A	G	195203	Benign	not_specified	0.68469	0.68923	0.73742	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11312	2263	16	88713236	A	G	17302	Benign	CYBA_POLYMORPHISM|Very_early_onset_inflammator...	.	0.69083	0.66434	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11313	196207	16	88713501	A	G	193368	Benign	not_specified	0.43995	0.48207	0.36601	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11314	440040	16	88782676	A	G	433792	Benign	not_specified	.	0.88956	0.86781	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11315	440041	16	88783449	C	G	433793	Benign	not_specified	0.63141	0.59224	0.6857	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11316	440048	16	88783521	T	C	433800	Benign	not_specified	0.9067	0.89648	0.89197	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11317	440055	16	88786063	C	T	433807	Benign	not_specified	0.0276	0.05393	0.03614	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11318	440049	16	88787704	G	C	433801	Benign	not_specified	0.87812	.	0.85244	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11319	381268	16	88788477	A	G	377889	Benign	not_specified	.	0.83165	0.85963	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11320	440050	16	88792047	A	G	433802	Benign	not_specified	0.90473	0.85098	0.8726	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11321	440042	16	88792097	A	G	433794	Benign	not_specified	0.90407	0.84915	0.8722	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11322	440058	16	88800913	C	T	433810	Benign	not_specified	.	0.10017	0.10543	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11323	440039	16	88803124	T	C	433791	Benign	not_specified	0.3507	0.32428	0.43031	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11324	440051	16	88803982	C	G	433803	Benign	not_specified	.	0.6942	0.75719	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11325	440054	16	88804349	G	T	433806	Benign	not_specified	.	.	0.03834	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11326	440043	16	88804734	A	G	433795	Benign	Lymphedema,_hereditary,_III|not_specified	0.85933	0.7823	0.82029	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11327	440046	16	88808743	A	G	433798	Benign	not_specified	0.90337	0.86619	0.90935	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11328	440047	16	88851310	A	C	433799	Benign	not_specified	.	0.3363	0.29932	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11329	128680	16	88872145	T	C	134129	Benign	Meier-Gorlin_syndrome_4|not_specified	0.99954	0.99934	0.9998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11330	128683	16	88872511	T	C	134132	Benign	Meier-Gorlin_syndrome_4|not_specified	0.84765	0.81834	0.87021	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11331	388732	16	89165169	T	C	375615	Uncertain_significance	not_provided	.	0.00065	0.0012	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11332	203598	16	89167075	C	CCCCAGGAGGCTCCCGGGAG	200301	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11333	136269	16	89167094	T	C	139972	Benign	not_specified	.	0.69985	0.6244	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11334	136271	16	89167140	G	C	139974	Benign	not_specified	0.91518	.	0.84924	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11335	136272	16	89167395	C	T	139975	Benign	not_specified	0.72415	0.70719	0.61901	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11336	136273	16	89167404	T	C	139976	Benign	not_specified	0.72469	0.70778	0.61981	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11337	136274	16	89167431	G	C	139977	Benign	not_specified	0.72245	0.7105	0.61981	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11338	136275	16	89167443	T	C	139978	Benign	not_specified	0.72545	0.7106	0.61981	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11339	136276	16	89167458	C	A	139979	Benign	not_specified	.	.	0.61921	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11340	439364	16	89178474	T	C	433338	Benign	Combined_malonic_and_methylmalonic_aciduria	.	0.05429	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11341	128641	16	89256695	G	A	134090	Likely_benign	not_specified	0.1532	0.19386	0.17552	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11342	128646	16	89258747	A	C	134095	Benign	not_specified	0.28921	0.49917	0.45308	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11343	128647	16	89259993	A	G	134096	Likely_benign	not_specified	0.39601	0.50741	0.4998	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11344	587797	16	89350038	G	A	580427	Benign	Autism_spectrum_disorder	0.69701	0.63785	0.53355	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11345	707161	16	89350658	C	T	693969	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11346	670118	16	89576663	G	A	667657	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11347	669572	16	89579076	A	G	668688	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11348	670123	16	89579123	G	A	668692	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11349	670124	16	89590243	G	A	668549	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11350	258910	16	89590667	T	C	255958	Benign	Spastic_paraplegia_7|not_specified|Spastic_Par...	0.43652	0.47715	0.52935	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11351	671136	16	89593198	C	T	668714	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11352	670125	16	89595723	G	A	668716	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11353	258911	16	89597221	A	G	255959	Benign	Spastic_paraplegia_7|not_specified|Spastic_Par...	0.43744	.	0.52935	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11354	670126	16	89599241	C	T	667663	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11355	669951	16	89599352	G	T	668551	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11356	684094	16	89603586	A	G	668720	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11357	130369	16	89613123	A	G	135816	Benign/Likely_benign	Spastic_paraplegia_7|not_specified|Spastic_Par...	0.14112	0.15071	0.10643	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11358	670128	16	89613373	G	A	668563	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11359	670129	16	89613412	T	C	669000	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11360	667498	16	89616558	T	C	668565	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11361	671694	16	89616725	C	T	668722	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11362	130370	16	89620328	G	A	135817	Benign/Likely_benign	Spastic_paraplegia_7|not_specified|Spastic_Par...	0.14099	0.15091	0.10583	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11363	321297	16	89623990	C	CCACA	326827	Likely_benign	Spastic_Paraplegia,_Recessive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11364	680112	16	89713174	C	T	669003	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11365	680104	16	89715648	G	A	667705	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11366	679125	16	89716140	T	C	668737	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11367	668086	16	89717711	G	A	667711	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11368	14311	16	89985844	G	T	29350	Benign	Skin/hair/eye_pigmentation_2,_blond_hair/fair_...	.	0.08321	0.03534	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11369	670259	16	90000925	T	C	667719	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11370	402891	16	90102835	A	G	390188	Benign	not_specified	0.40405	0.32401	0.26438	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11371	402894	16	90109711	A	G	390321	Benign	not_specified	0.82918	.	0.84425	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11372	667586	17	455451	C	A	669450	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11373	380878	17	465775	G	A	378523	Benign	not_specified	0.33423	0.27844	0.34864	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11374	667585	17	534525	T	G	669170	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11375	670837	17	556884	A	G	669005	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11376	670836	17	600502	C	T	668251	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11377	380877	17	600735	A	G	375663	Benign	not_specified	0.18814	0.18626	0.22105	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11378	667584	17	601018	C	A	669547	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11379	669397	17	602261	G	T	669304	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11380	670835	17	602469	G	C	669307	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11381	671930	17	613501	A	C	669310	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11382	670268	17	618039	G	A	656467	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11383	671876	17	618408	C	A	669560	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11384	768812	17	1132706	C	G	703962	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11385	260033	17	1265325	T	A	256080	Benign	not_specified	0.28412	0.41415	0.36262	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11386	508101	17	1373518	T	C	505951	Benign	not_specified	0.7901	0.72522	0.71166	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11387	508100	17	1373612	C	T	505952	Benign	not_specified	0.93675	0.86323	0.82089	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11388	508157	17	1387472	C	T	505968	Benign	not_specified	0.12979	0.1117	0.06629	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11389	683015	17	1388973	C	T	669145	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11390	321889	17	1576369	C	T	337224	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.32816	0.21714	0.27356	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11391	321898	17	1578939	C	T	343473	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.31132	0.21293	0.26158	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11392	321906	17	1580929	G	C	343496	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.32862	0.217	0.27236	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11393	321915	17	1584324	A	G	343505	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.32946	0.21736	0.27217	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11394	321917	17	1585130	A	G	343509	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.28971	0.18707	0.2504	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11395	130734	17	1630208	C	T	136180	Likely_benign	not_specified	.	0.26062	0.23323	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11396	130735	17	1630395	T	C	136181	Likely_benign	not_specified	0.22962	0.26975	0.26717	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11397	130736	17	1630584	A	G	136182	Likely_benign	not_specified	0.26567	0.27743	0.29852	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11398	130739	17	1636934	A	G	136185	Likely_benign	not_specified	0.23613	0.28112	0.27895	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11399	130740	17	1637074	A	G	136186	Likely_benign	not_specified	0.52418	0.51635	0.53954	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11400	130741	17	1637302	A	G	136187	Benign/Likely_benign	Cerebellar_ataxia,_mental_retardation,_and_dys...	0.72297	0.7526	0.76238	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11401	130744	17	1639458	A	G	136190	Likely_benign	not_specified	0.69379	0.73422	0.71765	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11402	674942	17	1673104	G	A	668879	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11403	322000	17	1673276	C	T	337339	Benign	Osteogenesis_imperfecta,_type_VI|not_specified...	0.71183	0.61882	0.6262	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11404	667593	17	1674605	T	C	668883	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11405	667594	17	1674687	T	C	668885	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11406	674943	17	1675127	C	T	668893	Benign	Osteogenesis_imperfecta,_type_VI|not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11407	674945	17	1675451	T	C	667837	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11408	674946	17	1678256	G	C	669188	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11409	674948	17	1679805	A	G	669190	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11410	322012	17	1680002	T	C	343606	Benign	Osteogenesis_imperfecta,_type_VI|not_specified...	0.77011	0.72924	0.77676	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11411	667540	17	2573173	A	G	668929	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11412	159528	17	2573652	C	T	169359	Benign	not_specified|not_provided	0.88728	0.91485	0.89237	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11413	667794	17	2573858	C	T	668773	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11414	674160	17	2577091	C	T	668778	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11415	667542	17	2579453	T	C	669231	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11416	673026	17	2584946	G	A	668938	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11417	42175	17	2585113	C	T	51341	Benign	Lissencephaly_1|not_specified|Lissencephaly/Su...	0.20729	0.21204	0.13858	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11418	322281	17	2586229	A	G	345238	Benign	Lissencephaly/Subcortical_Band_Heterotopia	.	.	0.83666	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11419	322300	17	2587326	G	A	343787	Likely_benign	Lissencephaly/Subcortical_Band_Heterotopia	.	.	0.001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11420	322332	17	2588722	TAA	T	343814	Uncertain_significance	Lissencephaly/Subcortical_Band_Heterotopia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11421	322681	17	3414135	T	G	328033	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.14058	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11422	322682	17	3414160	T	C	344101	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.43431	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11423	322692	17	3414774	T	C	337867	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.94329	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11424	322694	17	3414859	C	T	344105	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.94249	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11425	322696	17	3414939	A	G	345500	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.84545	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11426	322699	17	3415096	C	T	345504	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.94229	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11427	322701	17	3415118	G	A	337879	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.13978	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11428	322709	17	3415370	G	T	344111	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.94509	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11429	322719	17	3415646	A	G	344115	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.13958	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11430	322720	17	3415678	T	G	345531	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.43411	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11431	322723	17	3415982	C	G	337891	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.90575	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11432	322728	17	3416172	A	G	337904	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.5649	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11433	322730	17	3416271	C	T	345539	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.92093	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11434	322731	17	3416309	A	C	328071	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.36701	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11435	322735	17	3416555	C	A	337920	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.46805	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11436	322741	17	3417123	C	T	337926	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.99601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11437	322788	17	3445901	T	G	337972	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	0.51469	.	0.57907	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11438	322795	17	3447914	C	T	345570	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	0.58619	0.64045	0.66254	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11439	322796	17	3448453	G	A	344159	Benign/Likely_benign	Palmoplantar_keratoderma,_mutilating,_with_per...	0.01038	0.00922	0.00319	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11440	322799	17	3458072	T	C	345577	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	0.998	0.99943	0.9972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11441	322806	17	3461157	C	T	328144	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.26797	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11442	322811	17	3461236	T	C	328145	Benign	Palmoplantar_keratoderma,_mutilating,_with_per...	.	.	0.69229	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11443	791431	17	3495465	C	T	715392	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11444	189125	17	3504326	A	G	186968	Benign	Nephropathic_cystinosis	.	.	0.86122	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11445	558924	17	3558417	C	G	549742	Benign	not_provided	0.86345	0.9538	0.84525	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11446	683626	17	3558698	G	A	667876	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11447	257157	17	3561396	C	T	256153	Benign	Nephropathic_cystinosis|Cystinosis|not_specifi...	0.83492	0.91828	0.81829	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11448	257152	17	3563963	C	G	256155	Benign	Nephropathic_cystinosis|Cystinosis|not_specifi...	0.19045	0.25142	0.22863	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11449	322892	17	3565103	A	G	345655	Benign	Nephropathic_cystinosis|Cystinosis	.	.	0.74201	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11450	322899	17	3565332	C	T	328216	Uncertain_significance	Nephropathic_cystinosis|Cystinosis	.	.	0.00759	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11451	322913	17	3565969	T	C	328225	Benign	Nephropathic_cystinosis|Cystinosis	.	.	0.63838	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11452	322914	17	3566045	T	TC	328229	Benign	Nephropathic_cystinosis|Cystinosis	.	.	0.76757	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11453	322920	17	3566232	C	T	328241	Benign	Nephropathic_cystinosis|Cystinosis	.	.	0.36162	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11454	403283	17	3594276	TG	T	390187	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11455	768821	17	3664477	A	AATT	778471	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11456	721195	17	3801182	G	A	731146	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11457	226006	17	4836381	C	T	227792	drug_response	not_specified|aspirin_response_-_Efficacy	0.12316	0.09796	0.13159	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11458	255467	17	4837210	A	G	256260	Benign	not_specified	.	0.15348	0.84225	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11459	324134	17	4854480	C	T	339128	Benign	Glycogen_storage_disease_type_13|not_specified	.	.	0.32608	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11460	324136	17	4856376	A	G	346462	Benign	Glycogen_storage_disease_type_13|not_specified...	0.66908	0.64928	0.5641	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11461	324138	17	4856580	T	C	339134	Benign	Glycogen_storage_disease_type_13|not_specified...	0.4501	0.46061	0.30391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11462	403467	17	4863410	A	G	390198	Benign	not_specified	0.8471	0.78382	0.70288	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11463	682849	17	4904376	T	A	669096	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11464	516675	17	4906146	GCC	G	506467	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11465	682850	17	4907103	G	A	669100	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11466	424675	17	4908241	G	A	411591	Conflicting_interpretations_of_pathogenicity	Hereditary_spastic_paraplegia|not_specified|no...	0.00331	0.00351	0.0006	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11467	380828	17	4924097	C	G	378498	Benign	not_specified	0.06735	0.11172	0.0629	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11468	380827	17	4926882	A	G	376339	Benign	not_specified	0.66436	0.71428	0.67512	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11469	684053	17	4936972	G	A	656452	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11470	684048	17	4937575	T	C	656453	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11471	403240	17	5425077	T	C	390199	Benign	not_specified	0.48262	0.45485	0.41793	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11472	4163	17	5485367	A	T	19202	risk_factor	Vitiligo-associated_multiple_autoimmune_diseas...	.	0.37495	0.19209	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11473	324569	17	6327212	C	T	339690	Likely_benign	Leber_congenital_amaurosis|Retinitis_Pigmentos...	.	.	0.04712	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11474	324577	17	6327389	G	A	339707	Likely_benign	Leber_congenital_amaurosis|Retinitis_Pigmentos...	.	.	0.12121	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11475	324579	17	6327491	C	T	329421	Likely_benign	Leber_congenital_amaurosis|Retinitis_Pigmentos...	.	.	0.07508	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11476	324587	17	6327771	T	C	339716	Likely_benign	Leber_congenital_amaurosis|Retinitis_Pigmentos...	.	.	0.19649	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11477	324594	17	6328174	C	T	339722	Likely_benign	Leber_congenital_amaurosis|Retinitis_Pigmentos...	.	.	0.61562	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11478	99805	17	6330068	T	C	105694	Benign/Likely_benign	Leber_congenital_amaurosis|not_specified|Retin...	0.73866	0.72498	0.71366	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11479	166655	17	6331803	T	C	177472	Benign/Likely_benign	Leber_congenital_amaurosis|not_specified|Retin...	0.60526	0.63459	0.57588	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11480	99789	17	6337404	G	A	105678	Likely_benign	Leber_congenital_amaurosis|Retinitis_Pigmentos...	0.02107	0.02192	0.00619	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11481	324659	17	6355102	GT	G	345498	Benign	Cone-Rod_Dystrophy,_Dominant	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11482	324663	17	6355193	AC	A	345511	Uncertain_significance	Cone-Rod_Dystrophy,_Dominant	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11483	324671	17	6355212	C	CA	346833	Uncertain_significance	Cone-Rod_Dystrophy,_Dominant	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11484	324683	17	6355419	G	A	339763	Benign	Cone-Rod_Dystrophy,_Dominant	.	.	0.33307	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11485	324731	17	6358017	G	A	339793	Benign	Cone-Rod_Dystrophy,_Dominant	.	.	0.70567	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11486	324732	17	6358075	A	AC	339795	Benign	Cone-Rod_Dystrophy,_Dominant	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11487	324737	17	6358174	A	G	346872	Benign	Cone-Rod_Dystrophy,_Dominant	.	.	0.4367	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11488	261946	17	6364753	A	G	256341	Benign	not_specified|Cone-Rod_Dystrophy,_Dominant|not...	0.88905	0.86871	0.91394	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11489	667465	17	6604708	T	G	669067	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11490	672845	17	6606576	C	T	668237	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11491	667464	17	6606748	C	T	669271	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11492	668854	17	6606933	A	G	668239	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11493	670097	17	6606976	G	T	669068	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11494	672844	17	6606995	C	T	669070	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11495	670096	17	6607018	G	A	669288	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11496	670095	17	6607031	C	CT	669076	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11497	672896	17	6610536	A	G	669535	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11498	786837	17	7004906	G	A	715660	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11499	166637	17	7123240	T	TGGGCGTGCAGGACGC	177462	Benign	Very_long_chain_acyl-CoA_dehydrogenase_deficie...	0.45172	.	0.46785	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11500	92277	17	7127718	T	C	98188	Benign	Very_long_chain_acyl-CoA_dehydrogenase_deficie...	0.56175	0.60003	0.51977	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11501	679141	17	7350544	G	A	669333	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11502	128752	17	7350975	T	C	134201	Benign/Likely_benign	not_specified|Congenital_Myasthenic_Syndrome,_...	0.14862	0.1748	0.1873	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11503	256772	17	7358803	G	A	256403	Benign	not_specified|not_provided	0.96709	0.99088	0.96705	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11504	679143	17	7358861	T	C	669339	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11505	256773	17	7359277	T	C	256404	Benign	not_specified	0.14563	0.1756	0.18291	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11506	325109	17	7360110	T	C	345778	Benign	Congenital_Myasthenic_Syndrome,_Dominant/Reces...	.	.	0.30571	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11507	325112	17	7360323	T	C	345779	Likely_benign	Congenital_Myasthenic_Syndrome,_Dominant/Reces...	.	.	0.18191	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11508	325511	17	7487108	A	G	345999	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.24062	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11509	325524	17	7491177	G	T	330041	Benign	Congenital_disorder_of_glycosylation	.	0.80947	0.68191	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11510	325623	17	7572101	C	T	340457	Likely_benign	Li-Fraumeni_syndrome	.	.	0.05711	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11511	256603	17	7578115	T	C	256462	Benign	not_specified	.	.	0.83367	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11512	440348	17	7578645	C	T	433983	Benign	not_specified	.	.	0.84285	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11513	803309	17	7578711	CTTT	C	791833	Likely_benign	Squamous_cell_carcinoma_of_the_head_and_neck	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11514	695142	17	7578837	A	G	685438	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11515	256604	17	7579619	G	T	256464	Benign	not_specified	0.07081	0.06587	0.07768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11516	260999	17	7606722	C	G	256472	Benign	not_specified|Dyskeratosis_Congenita,_Recessive	0.39559	.	0.51118	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11517	402705	17	7630505	T	C	390368	Benign	not_specified	0.14993	0.12992	0.08626	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11518	402707	17	7673928	C	G	390242	Benign	not_specified	0.27749	.	0.35803	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11519	402708	17	7680159	G	A	390253	Benign	not_specified	0.24835	0.24234	0.12041	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11520	402709	17	7681412	C	G	390245	Benign	not_specified	0.79217	0.87417	0.76138	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11521	402710	17	7700712	C	T	390251	Benign	not_specified	0.52053	0.60273	0.53395	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11522	402712	17	7721030	G	A	390252	Benign	not_specified	0.30255	0.28049	0.17133	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11523	402713	17	7722365	C	T	390255	Benign	not_specified	0.64985	0.60587	0.61102	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11524	9353	17	7906519	G	T	24392	Benign	Leber_congenital_amaurosis_1|not_specified|not...	.	0.52114	0.41594	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11525	257554	17	7983969	G	C	256545	Benign	Congenital_ichthyosiform_erythroderma|not_spec...	0.40935	0.37597	0.45447	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11526	325934	17	7990915	A	G	340784	Benign	Congenital_ichthyosiform_erythroderma	.	.	0.38139	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11527	325949	17	7999589	T	G	330553	Benign	Congenital_ichthyosiform_erythroderma	.	.	0.48203	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11528	325991	17	8129160	A	G	346455	Benign	Dyskeratosis_Congenita,_Recessive	.	.	0.33307	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11529	128861	17	8132763	T	C	134309	Benign	not_specified|Dyskeratosis_Congenita,_Recessive	0.80087	0.75086	0.66354	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11530	128860	17	8135061	T	C	134308	Benign	not_specified|Dyskeratosis_Congenita,_Recessive	0.95301	0.95074	0.9373	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11531	261822	17	8141707	T	C	256553	Benign	not_specified|Dyskeratosis_Congenita,_Recessive	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11532	129893	17	8792029	A	G	135339	Benign	not_specified	0.50215	0.41079	0.44349	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11533	129894	17	8792514	G	A	135340	Benign	not_specified	0.50261	0.4103	0.44269	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11534	692209	17	8932082	C	T	679951	Uncertain_significance	Nonsyndromic_cleft_lip_with_or_without_cleft_p...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11535	129678	17	10297658	A	G	135124	Benign/Likely_benign	Hecht_syndrome|not_specified	0.62973	0.50958	0.48542	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11536	129674	17	10304261	G	A	135120	Benign/Likely_benign	Hecht_syndrome|not_specified	0.61964	0.50249	0.47364	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11537	129680	17	10318636	A	G	135126	Benign/Likely_benign	Hecht_syndrome|not_specified	0.85668	0.9224	0.86242	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11538	258701	17	10532884	G	A	256041	Benign	not_specified	.	.	0.51418	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11539	258698	17	10533595	C	CT	256045	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.58588	0.64132	0.51358	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11540	258694	17	10535100	C	A	256046	Likely_benign	not_specified	0.04513	0.03598	0.04054	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11541	258691	17	10535349	C	G	256048	Benign	not_specified	0.79842	.	0.72384	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11542	258690	17	10535761	G	A	256049	Benign	not_specified	0.58119	0.60951	0.46685	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11543	129663	17	10536018	G	A	135109	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.58381	0.60895	0.46965	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11544	129658	17	10541515	C	T	135104	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.71629	0.69018	0.58646	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11545	129656	17	10542471	T	G	135102	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.58166	.	0.46645	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11546	129653	17	10542765	A	G	135099	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.58196	0.6094	0.46645	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11547	258676	17	10542803	T	C	256059	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.58196	0.60885	0.46645	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11548	129652	17	10542886	T	C	135098	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.58204	0.60852	0.46625	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11549	129651	17	10543385	T	C	135097	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.06966	0.04291	0.0617	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11550	129650	17	10543463	T	C	135096	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.58204	0.60852	0.46645	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11551	258673	17	10544018	T	C	256062	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.58219	0.61399	0.46665	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11552	129649	17	10544416	G	T	135095	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.58173	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11553	129648	17	10544461	G	A	135094	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	0.06974	0.04292	0.0617	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11554	321752	17	10544696	GA	GAA,G	337081	Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11555	258671	17	10546130	T	G	256063	Benign/Likely_benign	Arthrogryposis_multiplex_congenita|Freeman-She...	.	.	0.52596	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11556	258668	17	10548992	C	T	256066	Benign	not_specified	0.58158	0.6075	0.46605	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11557	258667	17	10549184	G	A	256067	Benign	not_specified	0.58142	0.60732	0.46426	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11558	258695	17	10553046	A	G	256072	Benign	not_specified	0.65093	0.65051	0.52576	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11559	258682	17	10555028	G	A	256077	Benign	not_specified	0.58142	0.60762	0.46406	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11560	321780	17	10583714	G	C	344879	Benign	Leigh_syndrome|Hepatic_failure,_early-onset,_a...	.	.	0.47784	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11561	321785	17	10584116	C	T	344888	Benign	Leigh_syndrome|Hepatic_failure,_early-onset,_a...	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11562	683702	17	10595024	C	T	668791	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11563	676257	17	10596380	G	A	668646	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11564	683701	17	10599304	T	C	668648	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11565	402773	17	11511457	C	T	390159	Benign	not_specified	0.34599	0.45216	0.44329	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11566	402776	17	11583089	T	C	390325	Benign	not_specified	0.96832	0.97219	0.94788	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11567	402777	17	11648332	C	T	390327	Benign	not_specified	0.73589	0.7938	0.77017	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11568	402778	17	11651057	A	G	390221	Benign	not_specified	0.21613	0.22134	0.22464	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11569	402780	17	11737941	C	T	390330	Benign	not_specified	0.30917	0.34686	0.35344	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11570	402782	17	11757556	C	G	390174	Benign	not_specified	0.39605	.	0.40355	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11571	402783	17	11786951	T	C	390235	Benign	not_specified	0.40604	0.45283	0.38598	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11572	402786	17	11835321	C	T	390179	Benign	not_specified	0.16062	0.18015	0.16374	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11573	402788	17	11865462	G	A	390186	Benign	not_specified	0.16093	0.18408	0.16014	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11574	674688	17	12896553	C	T	668792	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11575	379967	17	12920260	A	G	378068	Benign	not_specified	0.27234	0.2716	0.20847	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11576	683498	17	12921645	T	C	668830	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11577	683497	17	12921672	G	A	668832	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11578	321803	17	13972811	G	A	343328	Benign	Leigh_syndrome|Hepatic_failure,_early-onset,_a...	.	.	0.99561	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11579	137005	17	13972955	C	T	140708	Benign/Likely_benign	Leigh_syndrome|Hepatic_failure,_early-onset,_a...	0.04829	0.05946	0.03315	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11580	669477	17	13973131	T	C	667774	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11581	672514	17	13979767	A	AT	668839	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11582	137006	17	13980058	A	T	140709	Benign/Likely_benign	Leigh_syndrome|Hepatic_failure,_early-onset,_a...	0.0499	0.07646	0.0615	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11583	137009	17	13980350	G	A	140712	Benign	Leigh_syndrome|Hepatic_failure,_early-onset,_a...	0.49039	0.49447	0.46386	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11584	137003	17	14005439	G	A	140706	Benign	Leigh_syndrome|Hepatic_failure,_early-onset,_a...	0.55551	0.52231	0.49181	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11585	683592	17	14062974	G	A	669120	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11586	136995	17	14095309	A	G	140698	Benign	Leigh_syndrome|Hepatic_failure,_early-onset,_a...	0.55344	0.58497	0.54832	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11587	321822	17	14110827	G	A	327302	Likely_benign	Leigh_syndrome|Hepatic_failure,_early-onset,_a...	.	.	0.20168	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11588	321839	17	14111608	C	T	343366	Likely_benign	Leigh_syndrome|Hepatic_failure,_early-onset,_a...	.	.	0.20188	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11589	321853	17	15133705	CAG	C	343376	Likely_benign	Hereditary_liability_to_pressure_palsies|Charc...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11590	321859	17	15134175	T	G	343380	Benign	Hereditary_liability_to_pressure_palsies|Charc...	.	0.53508	0.59545	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11591	677066	17	15142588	G	A	667803	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11592	633487	17	15162389	T	C	621914	Benign	Charcot-Marie-Tooth_disease,_type_I	0.60511	0.55019	0.61042	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11593	667505	17	15906912	G	A	668869	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11594	321969	17	15932071	C	CTT	343401	Likely_benign	Mitochondrial_complex_III_deficiency,_nuclear_...	.	0.49303	0.49441	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11595	321984	17	15932627	T	C	337188	Likely_benign	Mitochondrial_complex_III_deficiency,_nuclear_...	.	0.44622	0.36741	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11596	321990	17	16229232	A	G	343431	Benign	Coloboma,_Congenital_Heart_Disease,_Ichthyosif...	0.39428	0.41399	0.26737	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11597	36879	17	16855878	C	T	45540	Benign	Common_variable_immunodeficiency_2|not_specifi...	0.80963	0.81119	0.89956	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11598	322033	17	17115566	A	G	343533	Benign	Spontaneous_pneumothorax|Multiple_fibrofollicu...	.	.	0.71306	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11599	322048	17	17116412	A	G	337305	Benign	Spontaneous_pneumothorax|Multiple_fibrofollicu...	.	.	0.71066	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11600	96468	17	17122327	G	A	102362	Benign	Spontaneous_pneumothorax|Multiple_fibrofollicu...	0.4491	0.50234	0.503	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11601	96486	17	17127471	G	A	102380	Benign	Spontaneous_pneumothorax|Multiple_fibrofollicu...	0.37381	0.48408	0.40515	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11602	322082	17	17140297	G	A	343588	Benign	Spontaneous_pneumothorax|Multiple_fibrofollicu...	.	.	0.42832	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11603	322087	17	17140485	C	G	337331	Benign	Spontaneous_pneumothorax|Multiple_fibrofollicu...	.	.	0.74321	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11604	96183	17	17696531	G	C	102077	Benign	Smith-Magenis_syndrome|History_of_neurodevelop...	0.41218	0.48818	0.66693	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11605	96194	17	17696755	C	A	102088	Benign	Smith-Magenis_syndrome|History_of_neurodevelop...	0.33715	0.44167	0.5637	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11606	167558	17	17698099	G	A	177998	Uncertain_significance	not_provided	0.00023	0.00019	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11607	96179	17	17698254	G	A	102073	Benign	Smith-Magenis_syndrome|History_of_neurodevelop...	0.60111	0.50691	0.39976	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11608	96195	17	17707105	T	C	102089	Benign	Smith-Magenis_syndrome|History_of_neurodevelop...	0.4358	0.42141	0.24062	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11609	669691	17	17922280	G	A	669203	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11610	669688	17	17924868	A	G	668760	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11611	322102	17	18021882	T	C	345134	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	0.60743	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11612	322106	17	18022039	A	C	343645	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	0.60703	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11613	195315	17	18023897	G	A	192476	Benign/Likely_benign	Deafness,_autosomal_recessive_3|not_specified|...	0.33543	0.52888	0.55351	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11614	226778	17	18024013	A	G	230693	Benign/Likely_benign	Deafness,_autosomal_recessive_3|not_specified|...	0.30364	0.52583	0.5659	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11615	226779	17	18024266	T	G	230696	Benign/Likely_benign	Deafness,_autosomal_recessive_3|not_specified|...	.	.	0.49601	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11616	682532	17	18030240	T	C	668764	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11617	682533	17	18030524	G	A	668766	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11618	45751	17	18046058	A	C	54916	Benign/Likely_benign	Deafness,_autosomal_recessive_3|not_specified|...	0.76901	0.71307	0.68431	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11619	45753	17	18046898	T	C	54918	Benign/Likely_benign	Deafness,_autosomal_recessive_3|not_specified|...	0.80341	0.73948	0.71805	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11620	45758	17	18052867	T	C	54923	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.99952	0.98947	0.98982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11621	45761	17	18055229	G	A	54926	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.59902	0.56359	0.39078	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11622	226789	17	18057215	C	G	230743	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.25743	.	0.21026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11623	45774	17	18064730	C	T	54939	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.20478	0.17672	0.15755	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11624	45775	17	18065888	T	C	54940	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.20385	0.1854	0.15695	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11625	45744	17	18077175	T	C	54909	Benign/Likely_benign	Deafness,_autosomal_recessive_3|not_specified|...	0.79492	0.7312	0.72145	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11626	322191	17	18082796	C	G	327624	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	0.15675	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11627	322196	17	18083104	G	A	327635	Likely_benign	Nonsyndromic_Hearing_Loss,_Recessive	.	.	0.72105	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11628	260675	17	19247075	G	A	256099	Benign	Meckel_syndrome,_type_9|not_specified	0.59957	0.5994	0.3105	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11629	674719	17	19265797	C	T	667861	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11630	322219	17	19578873	A	T	345179	Benign	Sjögren-Larsson_syndrome|not_provided	0.55067	0.61541	0.67851	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11631	322237	17	19580494	A	G	345207	Benign	Sjögren-Larsson_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11632	322240	17	19580760	TAC	T	327687	Benign	Sjögren-Larsson_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11633	5404	17	19812541	T	C	20443	risk_factor	Cardiac_conduction_defect,_susceptibility_to	.	0.37365	0.39397	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11634	768841	17	21201719	T	C	778368	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11635	768842	17	21202191	C	A	704020	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11636	768843	17	21202237	G	C	704021	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11637	768849	17	21205460	C	T	704027	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11638	768850	17	21206556	C	T	778456	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11639	218844	17	21207813	T	G	215533	Uncertain_significance	not_specified	.	0.28464	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11640	768852	17	21207844	C	T	704029	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11641	768853	17	21208413	C	T	704030	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11642	768854	17	21208449	G	T	778324	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11643	768855	17	21215446	C	T	778240	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11644	768856	17	21215483	C	T	704032	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11645	768857	17	21215537	C	A	704034	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11646	768858	17	21215552	C	T	704035	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11647	768859	17	21215557	G	A	704036	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11648	768860	17	21216846	G	C	704037	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11649	768861	17	21217513	G	A	704038	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11650	322335	17	26721791	C	A	337587	Benign	Congenital_defect_of_folate_absorption	.	.	0.61741	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11651	322336	17	26721895	G	A	327762	Benign	Congenital_defect_of_folate_absorption	.	.	0.61741	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11652	322341	17	26722039	G	GA	327778	Benign	Congenital_defect_of_folate_absorption	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11653	322346	17	26722645	G	A	345316	Benign	Congenital_defect_of_folate_absorption	.	.	0.61661	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11654	322348	17	26722728	C	T	345318	Benign	Congenital_defect_of_folate_absorption	.	.	0.61202	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11655	322361	17	26723613	G	T	327801	Benign	Congenital_defect_of_folate_absorption	.	.	0.53395	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11656	322362	17	26723666	A	C	345325	Benign	Congenital_defect_of_folate_absorption	.	.	0.75499	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11657	322384	17	26725265	G	A	343853	Benign	Congenital_defect_of_folate_absorption	.	.	0.60523	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11658	322393	17	26725744	T	C	345336	Benign	Congenital_defect_of_folate_absorption	.	.	0.54852	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11659	379390	17	26851501	G	A	374904	Benign	not_specified	0.63025	0.71492	0.65076	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11660	379409	17	26856261	A	G	375818	Benign	not_specified	0.42065	0.38597	0.43071	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11661	322436	17	26864302	G	C	337689	Benign	T-cell_immunodeficiency,_congenital_alopecia_a...	0.37867	0.32289	0.39277	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11662	322494	17	27069393	C	T	345410	Benign	Nephronophthisis	.	.	0.39078	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11663	259672	17	27580756	C	T	256112	Benign	not_specified|not_provided	0.22028	0.21706	0.29074	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11664	322509	17	28523726	G	T	327926	Likely_benign	Behavior_disorder	.	.	0.58107	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11665	322518	17	28524804	A	C	327928	Likely_benign	Behavior_disorder	.	.	0.48343	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11666	322521	17	28525011	A	C	343987	Likely_benign	Behavior_disorder	.	.	0.48522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11667	322546	17	28549898	G	T	327950	Likely_benign	Behavior_disorder	.	.	0.79633	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11668	561756	17	29482701	C	T	552872	Benign	not_provided	.	.	0.65256	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11669	561463	17	29482878	G	A	552873	Benign	not_provided	.	.	0.50998	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11670	257283	17	29486152	G	A	256114	Benign	not_specified|not_provided	0.57414	0.623	0.50978	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11671	561464	17	29496819	C	T	552882	Benign	not_provided	.	.	0.48842	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11672	183825	17	29508775	G	A	184518	Benign/Likely_benign	Hereditary_cancer-predisposing_syndrome|Neurof...	0.5744	0.6228	0.51178	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11673	561465	17	29509791	C	T	552890	Benign	not_provided	.	.	0.47804	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11674	561466	17	29509801	G	T	552891	Benign	not_provided	.	.	0.49361	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11675	561757	17	29530350	A	C	552900	Benign	not_provided	.	.	0.51757	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11676	561758	17	29530362	C	T	552901	Benign	not_provided	.	.	0.51058	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11677	561759	17	29541061	T	C	552902	Benign	not_provided	.	.	0.47444	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11678	561468	17	29541339	A	T	552904	Benign	not_provided	.	.	0.61062	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11679	257276	17	29541437	T	C	256117	Benign	not_specified|not_provided	0.56385	.	0.47404	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11680	257277	17	29545987	A	AT	256119	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11681	257278	17	29546175	T	C	256120	Benign	not_specified|not_provided	0.53598	0.63397	0.47344	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11682	561760	17	29550141	G	A	552913	Benign	not_provided	.	.	0.46406	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11683	183826	17	29553485	G	A	184580	Benign/Likely_benign	Hereditary_cancer-predisposing_syndrome|Neurof...	0.41635	0.38273	0.49681	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11684	561469	17	29558082	T	C	552936	Benign	not_provided	.	.	0.54613	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11685	561471	17	29559588	G	C	552941	Benign	not_provided	.	.	0.52616	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11686	257285	17	29559932	C	A	256126	Benign	not_specified	0.39036	0.36763	0.45807	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11687	561761	17	29577248	G	A	552948	Benign	not_provided	.	.	0.51158	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11688	403230	17	29646032	G	A	390336	Benign	not_specified	0.66608	.	0.59185	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11689	561762	17	29652531	A	G	552959	Benign	not_provided	.	.	0.38039	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11690	257293	17	29653293	T	C	256134	Benign	not_specified|not_provided	0.67669	0.60005	0.60583	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11691	257294	17	29654876	T	A	256135	Benign	not_specified|not_provided	0.51622	0.53638	0.43191	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11692	561472	17	29654974	G	A	552970	Benign	not_provided	.	.	0.43171	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11693	561766	17	29661340	G	T	552975	Benign	not_provided	.	.	0.38039	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11694	561473	17	29663172	A	C	552981	Benign	not_provided	.	.	0.88678	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11695	257300	17	29670190	C	G	256140	Benign	not_specified|not_provided	0.88312	0.90685	0.8738	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11696	561763	17	29675878	T	G	552992	Benign	not_provided	.	.	0.41514	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11697	561475	17	29675971	T	A	552993	Benign	not_provided	.	.	0.42452	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11698	257303	17	29679246	G	A	256143	Benign	not_specified|not_provided	0.51338	.	0.43091	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11699	561476	17	29684553	C	T	553001	Benign	not_provided	.	.	0.40236	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11700	561764	17	29685150	A	G	553002	Benign	not_provided	.	.	0.24581	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11701	322597	17	29703374	G	A	345469	Likely_benign	Neurofibromatosis,_type_1|Café-au-lait_macules...	.	.	0.53055	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11702	322599	17	29703438	C	G	327986	Benign	Neurofibromatosis,_type_1|Café-au-lait_macules...	.	.	0.55871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11703	322603	17	29704002	T	C	337817	Likely_benign	Neurofibromatosis,_type_1|Café-au-lait_macules...	.	.	0.61262	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11704	805606	17	32957114	G	A	793662	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11705	805607	17	32962004	C	T	793663	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11706	805608	17	32962050	C	T	793664	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11707	679676	17	33433820	A	G	668941	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11708	322635	17	33901917	TTAAG	T	344170	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11709	322663	17	33905468	A	G	345589	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.8774	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11710	559340	17	35470031	T	G	550067	Benign	not_provided	0.03791	0.0137	0.04413	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11711	322940	17	36047275	C	T	345691	Benign	Familial_hypoplastic,_glomerulocystic_kidney	.	0.85239	0.78035	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11712	36843	17	36047417	A	G	45504	Benign	Familial_hypoplastic,_glomerulocystic_kidney	0.67108	.	0.65495	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11713	674360	17	36059246	A	C	668961	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11714	676878	17	36059377	A	G	667882	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11715	676876	17	36059424	A	AG	668964	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11716	672693	17	36060736	C	G	668785	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11717	676904	17	36065302	T	TCC	667884	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11718	322994	17	36485753	G	C	345722	Benign	Congenital_Stationary_Night_Blindness,_Recessive	0.29812	.	0.30411	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11719	198441	17	36491083	C	T	195602	Benign/Likely_benign	not_specified|Congenital_Stationary_Night_Blin...	0.04087	0.06525	0.03055	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11720	323028	17	36493586	A	T	338237	Uncertain_significance	Congenital_Stationary_Night_Blindness,_Recessive	0.01301	0.01002	0.00319	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11721	196294	17	36493598	A	G	193455	Benign	not_specified|Congenital_Stationary_Night_Blin...	0.22985	0.158	0.25859	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11722	672043	17	37821435	G	T	669266	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11723	44709	17	37822311	A	C	53876	Benign/Likely_benign	Hypertrophic_cardiomyopathy|not_specified|Card...	0.61834	0.6706	0.54972	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11724	679984	17	37830900	A	G	656430	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11725	135519	17	37855834	C	A	139258	not_provided	not_specified	.	0.17617	0.06589	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11726	134082	17	37884037	C	G	137821	not_provided	not_specified	0.51353	0.60698	0.45208	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11727	259020	17	38240216	C	T	256161	Benign	not_specified	0.04536	0.03847	0.02975	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11728	66171	17	38978462	C	T	77068	not_provided	not_provided	0.18517	0.1974	0.13279	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11729	403023	17	39253835	C	T	390196	Benign	not_specified	.	.	0.63638	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11730	323070	17	39657337	C	A	344363	Benign	White_sponge_nevus_of_cannon	.	.	0.6897	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11731	323084	17	39659183	G	A	338280	Benign	White_sponge_nevus_of_cannon	0.80755	0.90603	0.79992	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11732	323093	17	39659529	T	C	328372	Benign	White_sponge_nevus_of_cannon	0.83346	0.91394	0.82109	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11733	323096	17	39659913	G	A	344370	Benign	White_sponge_nevus_of_cannon	0.69514	0.85089	0.70527	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11734	323101	17	39661366	G	C	345815	Benign	White_sponge_nevus_of_cannon	0.0755	0.05345	0.07428	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11735	66540	17	39681475	A	G	77437	not_provided	not_provided	0.6201	0.68572	0.73183	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11736	66544	17	39684410	G	A	77441	not_provided	not_provided	0.58604	0.689	0.68411	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11737	323120	17	39723990	T	A	328390	Likely_benign	Localized_epidermolytic_hyperkeratosis	0.49892	0.62414	0.64736	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11738	323133	17	39726276	C	A	344409	Likely_benign	Localized_epidermolytic_hyperkeratosis	0.51699	0.62889	0.66314	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11739	66151	17	39727816	T	G	77048	Likely_benign	Localized_epidermolytic_hyperkeratosis|not_pro...	0.50162	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11740	323141	17	39728050	G	A	338340	Likely_benign	Localized_epidermolytic_hyperkeratosis	0.64017	0.72923	0.78095	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11741	711995	17	39739558	C	T	727165	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11742	66346	17	39742718	A	G	77243	Benign	not_specified|not_provided	.	0.63752	0.68051	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11743	256364	17	39743081	G	A	256164	Benign	not_specified	0.55026	0.67151	0.68051	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11744	771767	17	39881327	T	C	704140	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11745	323159	17	39911771	A	G	344426	Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopath...	.	.	0.63219	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11746	21304	17	39912145	T	A	34156	Benign/Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopath...	0.69699	0.65924	0.58726	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11747	672153	17	39912259	A	AC	668979	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11748	672152	17	39912581	A	G	667894	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11749	261475	17	39913645	T	C	256165	Benign	not_specified|not_provided	0.79356	0.71	0.71725	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11750	261474	17	39914070	G	T	256166	Benign	not_specified|not_provided	0.73466	0.6784	0.63898	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11751	668841	17	39920621	T	C	669272	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11752	674289	17	39920655	C	T	669278	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11753	258593	17	39923614	A	G	256168	Benign	not_specified	0.83431	0.76379	0.74421	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11754	683546	17	39924931	G	A	667899	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11755	45851	17	39925713	C	T	55016	Benign/Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopath...	0.04221	0.04974	0.02396	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11756	45845	17	39925925	A	G	55010	Benign/Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopath...	0.79556	.	0.71566	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11757	673320	17	39928180	G	A	668831	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11758	674288	17	39928375	C	T	668990	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11759	516121	17	39942819	TGC	T	505900	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11760	323175	17	39942919	T	C	328421	Likely_benign	Arrhythmogenic_right_ventricular_cardiomyopath...	.	.	0.65535	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11761	516227	17	39969549	C	T	506811	Benign	not_specified	0.10557	0.07799	0.06589	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11762	682701	17	39973065	A	G	669283	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11763	682703	17	39975164	C	T	668833	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11764	682715	17	39977734	A	G	668842	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11765	674879	17	39977862	C	T	668998	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11766	323197	17	39979062	T	A	338398	Benign	Osteogenesis_Imperfecta,_Recessive	.	.	0.78714	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11767	323199	17	39979081	CC	GG	345864	Uncertain_significance	Osteogenesis_Imperfecta,_Recessive	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11768	323203	17	39979267	GCTC	G	345866	Benign	Osteogenesis_Imperfecta,_Recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11769	323218	17	40466092	G	A	328440	Benign	Hyper-IgE_syndrome	.	.	0.44988	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11770	323258	17	40554956	A	G	345919	Benign	Familial_partial_lipodystrophy	.	.	0.85923	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11771	323259	17	40555001	G	C	344514	Benign	Familial_partial_lipodystrophy	.	.	0.85982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11772	323260	17	40555114	A	C	344515	Benign	Familial_partial_lipodystrophy	.	.	0.85324	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11773	323267	17	40555890	T	C	344517	Benign	Familial_partial_lipodystrophy	.	.	0.85982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11774	323268	17	40555939	A	T	328498	Benign	Familial_partial_lipodystrophy	.	.	0.53235	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11775	323271	17	40556247	G	A	338443	Benign	Familial_partial_lipodystrophy	.	.	0.85982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11776	323275	17	40556515	T	C	344522	Benign	Familial_partial_lipodystrophy	.	.	0.86002	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11777	92694	17	40689455	T	C	98601	Benign	Sanfilippo_syndrome|Mucopolysaccharidosis,_MPS...	0.99477	0.9947	0.9976	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11778	195051	17	40689613	G	C	192213	Benign	not_specified	0.74542	.	0.72005	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11779	682647	17	40690118	G	C	669311	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11780	92697	17	40693136	C	G	98604	Benign	not_specified|not_provided	0.00077	.	0.0004	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11781	682648	17	40693344	C	T	667969	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11782	92693	17	40696233	C	G	98600	Benign	Sanfilippo_syndrome|Mucopolysaccharidosis,_MPS...	0.84884	.	0.85923	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11783	380441	17	40717672	C	G	375926	Benign	Neurodegeneration_with_brain_iron_accumulation...	0.04798	.	0.02496	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11784	255350	17	41063466	T	C	256175	Benign	Glycogen_storage_disease,_type_I|not_specified...	0.75444	0.71237	0.63838	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11785	323383	17	41064737	C	A	344623	Benign	Glycogen_storage_disease,_type_I	.	.	0.72664	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11786	323389	17	41064987	TTTTTAGAA	T	344627	Benign	Glycogen_storage_disease,_type_I	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11787	323395	17	41065531	A	T	338554	Benign	Glycogen_storage_disease,_type_I	.	.	0.60703	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11788	323396	17	41065538	T	A	344640	Benign	Glycogen_storage_disease,_type_I	.	.	0.65136	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11789	403353	17	41121209	GGC	G,GG	390210	Benign	not_specified	.	.	.	1|2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11790	209221	17	41192016	C	CAT	206179	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11791	209226	17	41193910	A	T	206184	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.53774	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11792	209227	17	41194885	T	C	206185	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.49141	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11793	209228	17	41195025	T	A	206186	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34225	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11794	209230	17	41195711	G	C	206188	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34245	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11795	209231	17	41195773	A	G	206189	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34225	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11796	132777	17	41196408	G	A	136525	Benign	Hereditary_breast_and_ovarian_cancer_syndrome|...	.	0.44485	0.34225	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11797	209234	17	41197274	C	A	206192	Benign	Hereditary_breast_and_ovarian_cancer_syndrome|...	.	0.44647	0.32448	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11798	209238	17	41198621	A	G	206196	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34245	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11799	209243	17	41199913	T	C	206201	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.53395	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11800	209244	17	41200109	T	C	206202	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11801	209247	17	41200537	T	C	206205	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11802	491153	17	41201653	G	A	485074	Likely_benign	Hereditary_cancer-predisposing_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11803	209252	17	41201702	C	T	206210	Benign	Hereditary_cancer-predisposing_syndrome|Breast...	.	.	0.32508	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11804	209256	17	41202688	G	A	206214	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.53774	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11805	209259	17	41203325	T	A	206217	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34285	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11806	209260	17	41203591	T	C	206218	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34285	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11807	209266	17	41204377	A	G	206224	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34285	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11808	209267	17	41204390	T	C	206225	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11809	209277	17	41205772	G	A	206235	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11810	209278	17	41205941	A	G	206236	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.49022	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11811	209279	17	41206056	T	C	206237	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34285	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11812	209291	17	41209578	T	C	206249	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11813	209296	17	41210396	A	C	206254	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.45927	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11814	209301	17	41211653	A	G	206259	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.32488	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11815	209303	17	41212169	C	T	206261	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.32488	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11816	209305	17	41212338	A	C	206263	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11817	209306	17	41212547	C	T	206264	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34245	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11818	209308	17	41212805	C	T	206266	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.48962	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11819	209313	17	41213626	G	T	206271	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.32428	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11820	209314	17	41213660	T	C	206272	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.34205	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11821	209317	17	41213893	C	T	206275	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.32428	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11822	209318	17	41213996	C	T	206276	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.32428	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11823	209320	17	41214209	CAA	C	206278	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.32648	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11824	55428	17	41215825	C	T	70095	Benign	Familial_cancer_of_breast|Hereditary_cancer-pr...	.	.	0.34245	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11825	209322	17	41216205	G	T	206280	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.29094	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11826	209327	17	41216933	T	C	206285	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33966	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11827	209335	17	41217874	C	T	206293	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33586	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11828	209336	17	41218333	G	A	206294	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35363	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11829	209340	17	41218572	T	C	206298	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33586	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11830	127127	17	41219341	G	T	132630	Benign	Familial_cancer_of_breast|Breast-ovarian_cance...	.	.	0.2528	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11831	127126	17	41219560	C	T	132629	Benign	Familial_cancer_of_breast|Breast-ovarian_cance...	.	.	0.30691	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11832	125746	17	41219780	T	C	131284	Benign	Hereditary_cancer-predisposing_syndrome|Breast...	.	.	0.35463	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11833	125749	17	41219804	T	C	131287	Benign	Breast-ovarian_cancer,_familial_1|not_specified	.	.	0.35463	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11834	209350	17	41220223	A	G	206308	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35503	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11835	209358	17	41222462	A	G	206316	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35583	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11836	209359	17	41222723	T	C	206317	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33746	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11837	41827	17	41223094	T	C	50266	Benign	Breast_carcinoma|Hereditary_breast_and_ovarian...	0.29817	.	0.35583	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11838	264795	17	41223538	G	GAATGTTCACTGTAACAATGCTTGT	259558	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11839	209363	17	41224833	G	C	206321	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33646	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11840	209371	17	41225839	T	C	206329	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35483	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11841	209374	17	41226601	G	C	206332	Benign	Breast-ovarian_cancer,_familial_1|not_specified	.	.	0.35344	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11842	209375	17	41226675	A	T	206333	Benign	Breast-ovarian_cancer,_familial_1|not_specified	.	.	0.5024	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11843	209376	17	41226736	GGGGTT	G	206334	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11844	209378	17	41227083	C	CGGAA	206336	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11845	209382	17	41229386	T	C	206340	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35383	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11846	264844	17	41229773	T	C	259564	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35363	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11847	209384	17	41229777	G	GT	206342	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11848	209385	17	41229812	A	G	206343	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.5026	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11849	209386	17	41229857	G	A	206344	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.54892	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11850	209387	17	41229908	T	A	206345	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.54812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11851	264827	17	41230105	CT	C	259566	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11852	209389	17	41230228	G	A	206347	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33486	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11853	209390	17	41230336	A	G	206348	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33486	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11854	209391	17	41230376	A	G	206349	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33486	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11855	209392	17	41230524	T	G	206350	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.253	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11856	209393	17	41230537	A	T	206351	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.5024	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11857	209396	17	41230990	A	G	206354	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.503	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11858	209398	17	41231221	A	C	206356	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33546	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11859	209399	17	41231516	C	T	206357	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35344	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11860	209401	17	41231902	G	A	206359	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33486	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11861	209929	17	41232344	G	C	206361	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.98023	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11862	209404	17	41232698	C	T	206363	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.14397	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11863	125703	17	41234470	A	G	131241	Benign	Hereditary_breast_and_ovarian_cancer_syndrome|...	0.27956	0.3431	0.33626	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11864	209413	17	41235799	G	A	206372	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.58546	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11865	209420	17	41237953	G	A	206379	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35264	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11866	209424	17	41239472	G	A	206383	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33806	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11867	209425	17	41239491	T	C	206384	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35363	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11868	209426	17	41239628	A	G	206385	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11869	264847	17	41239915	AT	A	259575	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11870	209427	17	41240277	T	C	206386	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.17033	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11871	209432	17	41241390	C	A	206391	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35344	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11872	209433	17	41241503	T	C	206392	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35344	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11873	209435	17	41241568	T	TC	206394	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.31969	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11874	209436	17	41242075	AAAG	A	206395	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11875	209439	17	41242285	T	G	206398	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35264	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11876	125674	17	41243190	T	G	131212	Benign	Familial_cancer_of_breast|Breast-ovarian_cance...	.	.	0.5024	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11877	41818	17	41244000	T	C	50257	Benign	Breast_carcinoma|Hereditary_breast_and_ovarian...	0.29525	0.34901	0.35264	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11878	41815	17	41244435	T	C	50254	Benign	Breast_carcinoma|Hereditary_breast_and_ovarian...	0.27903	0.34287	0.33566	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11879	41812	17	41244936	G	A	50251	Benign	Breast_carcinoma|Hereditary_breast_and_ovarian...	0.49316	0.41005	0.54393	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11880	125554	17	41245237	A	G	131092	Benign	Hereditary_breast_and_ovarian_cancer_syndrome|...	0.27764	0.34196	0.33526	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11881	125536	17	41245466	G	A	131074	Benign	Hereditary_breast_and_ovarian_cancer_syndrome|...	0.29568	0.34827	0.33646	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11882	127125	17	41247122	A	ACCT	132628	Benign	Familial_cancer_of_breast|Breast-ovarian_cance...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11883	209447	17	41247604	A	C	206406	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11884	209449	17	41248164	C	T	206408	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33506	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11885	209450	17	41248484	G	C	206409	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33486	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11886	209451	17	41249094	A	G	206410	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35264	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11887	125889	17	41249363	TA	T	131427	Benign	Hereditary_cancer-predisposing_syndrome|Breast...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11888	209458	17	41250678	C	CT	206417	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35264	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11889	209460	17	41250923	T	C	206419	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.54812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11890	209463	17	41251495	C	G	206422	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33586	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11891	125879	17	41251646	T	A	131417	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35264	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11892	209478	17	41254174	A	G	206437	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35344	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11893	264778	17	41254405	C	T	259589	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35344	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11894	209479	17	41254486	T	G	206438	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.54812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11895	264845	17	41254965	C	CT	259592	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11896	209483	17	41255102	A	G	206442	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33526	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11897	209484	17	41255111	A	T	206443	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35324	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11898	225705	17	41256089	AAAAAAAAAGAAAAG	A	227569	Benign	Breast-ovarian_cancer,_familial_1|not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11899	125614	17	41257134	T	C	131152	Benign	Breast-ovarian_cancer,_familial_1|not_specified	.	.	0.54852	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11900	209489	17	41257458	A	C	206448	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33586	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11901	209491	17	41258043	C	T	206450	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11902	209494	17	41259049	C	T	206453	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11903	209499	17	41260808	A	G	206458	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35304	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11904	264813	17	41261058	T	TCTATCTATCTACCTAC	259598	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11905	209503	17	41261233	C	T	206462	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35344	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11906	209512	17	41263044	A	G	206471	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11907	209516	17	41263566	T	C	206475	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35703	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11908	209519	17	41264146	G	A	206478	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33447	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11909	209521	17	41264364	A	G	206480	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33447	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11910	209524	17	41265776	A	G	206483	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11911	209531	17	41267050	G	A	206490	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11912	209537	17	41268206	A	C	206496	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35304	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11913	264808	17	41268208	C	CT	259612	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11914	209545	17	41270229	T	G	206504	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11915	209547	17	41270277	C	T	206506	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33546	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11916	209551	17	41270463	G	A	206510	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35264	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11917	209552	17	41270666	C	A	206511	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33506	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11918	209559	17	41273095	G	A	206518	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35304	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11919	209561	17	41273348	T	C	206520	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.54453	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11920	209562	17	41273379	G	C	206521	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33526	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11921	209564	17	41273537	A	C	206523	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35304	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11922	209565	17	41274778	G	A	206524	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11923	209568	17	41274906	G	A	206526	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.54273	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11924	209569	17	41275081	G	GA	206528	Benign	Breast-ovarian_cancer,_familial_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11925	209570	17	41275151	G	C	206529	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33506	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11926	209571	17	41275645	A	G	206530	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11927	125468	17	41276247	A	G	131006	Benign	Breast-ovarian_cancer,_familial_1|not_specified	.	.	0.35363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11928	209574	17	41276348	T	C	206533	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11929	189123	17	41277187	G	C	186980	Benign	Breast-ovarian_cancer,_familial_1|not_specified	.	0.48053	0.54513	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11930	209582	17	41278116	T	C	206541	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.50319	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11931	209583	17	41278377	G	A	206542	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35403	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11932	209587	17	41278916	A	G	206546	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.50319	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11933	209589	17	41279298	A	G	206548	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11934	209592	17	41279561	G	C	206551	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.54932	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11935	209593	17	41279770	A	G	206552	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35783	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11936	209594	17	41279837	C	A	206553	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.33586	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11937	209595	17	41279882	A	G	206554	Benign	Breast-ovarian_cancer,_familial_1	.	.	0.35363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11938	323430	17	41831443	G	GC	338589	Benign	Sclerosing_Bone_Dysplasias	.	.	0.5	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11939	768890	17	42030743	G	C	704166	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11940	262687	17	42084097	C	G	256179	Benign	Hyperammonemia,_type_III|not_specified	0.2625	0.31936	0.1885	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11941	680677	17	42084377	G	A	669024	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11942	262688	17	42085150	T	C	256180	Benign	Hyperammonemia,_type_III|not_specified|not_pro...	0.9227	0.94322	0.96026	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11943	680676	17	42085352	G	C	668862	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11944	262686	17	42085972	C	T	256181	Benign	Hyperammonemia,_type_III|not_specified|not_pro...	0.57258	0.56597	0.47564	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11945	323452	17	42086180	C	T	344676	Benign	Hyperammonemia,_type_III	.	.	0.89477	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11946	323459	17	42148205	C	T	344691	Benign	Severe_congenital_neutropenia	.	0.56696	0.32308	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11947	262366	17	42152103	G	A	256183	Benign	Severe_congenital_neutropenia|not_specified	0.08535	0.17677	0.26997	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11948	323481	17	42326258	C	T	344706	Likely_benign	Hemolytic_anemia|Distal_Renal_Tubular_Acidosis...	.	.	0.53634	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11949	323498	17	42327493	G	T	344720	Likely_benign	Hemolytic_anemia|Distal_Renal_Tubular_Acidosis...	.	.	0.44649	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11950	803426	17	42427544	G	GAGTC	791780	Benign	Frontotemporal_dementia,_ubiquitin-positive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11951	558917	17	42427732	G	A	549747	Benign	not_provided	0.26688	0.28269	0.35144	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11952	128973	17	42953409	A	G	134420	Benign	Growth_and_mental_retardation,_mandibulofacial...	0.21951	0.17427	0.17053	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11953	128972	17	42961009	C	T	134419	Benign	Growth_and_mental_retardation,_mandibulofacial...	0.64309	0.56925	0.5605	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11954	369146	17	42977073	T	G	353375	Likely_benign	Primary_ciliary_dyskinesia	.	.	0.27696	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11955	66508	17	42989088	C	T	77405	Benign	Alexander_Disease|not_provided	0.15608	0.1163	0.14078	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11956	66426	17	42993118	G	T	77323	not_provided	not_provided	.	.	0.40835	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11957	98197	17	44060859	A	G	104089	Benign	Frontotemporal_dementia|not_specified|not_prov...	0.04185	0.04127	0.02776	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11958	98211	17	44074018	G	A	104103	Benign/Likely_benign	Frontotemporal_dementia|not_specified|MAPT-Rel...	0.04306	0.03595	0.03295	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11959	323687	17	44103445	TAG	T	328833	Benign	Syndromic_intellectual_disability|MAPT-Related...	.	.	0.20248	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11960	323727	17	44105395	A	G	344915	Benign	Syndromic_intellectual_disability|MAPT-Related...	.	.	0.61402	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11961	323764	17	44109474	G	A	346272	Benign	Koolen-de_Vries_syndrome|Syndromic_intellectua...	0.34638	0.3775	0.3129	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11962	682029	17	44116843	C	A	669322	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11963	803431	17	44144993	C	G	791785	Benign	Koolen-de_Vries_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11964	369215	17	44270181	G	A	353444	Benign	Syndromic_intellectual_disability	.	.	0.31869	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11965	137487	17	45000529	G	C	141190	Benign	Progressive_myoclonic_epilepsy|not_specified	0.30023	0.3961	0.3732	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11966	193275	17	45000547	G	C	190439	Benign	Progressive_myoclonic_epilepsy|Epilepsy,_progr...	0.95096	.	0.95367	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11967	668838	17	45007207	C	G	668034	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11968	683278	17	45007213	A	G	668035	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11969	668839	17	45012087	A	G	668880	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11970	681357	17	45012248	T	G	669375	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11971	323828	17	45016412	G	GTGGCTTTGT	346313	Likely_benign	Progressive_myoclonic_epilepsy	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11972	323830	17	45016427	T	C	338937	Benign	Progressive_myoclonic_epilepsy	.	.	0.9363	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11973	323837	17	45017241	G	A	338951	Benign	Progressive_myoclonic_epilepsy	.	.	0.375	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11974	323846	17	45017859	A	G	328952	Benign	Progressive_myoclonic_epilepsy	0.42072	.	0.41134	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11975	323855	17	45018418	C	T	346341	Likely_benign	Progressive_myoclonic_epilepsy	.	.	0.07468	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11976	13558	17	45360730	T	C	28597	Benign/Likely_benign	PL(A1)/(A2)_ALLOANTIGEN_POLYMORPHISM|Myocardia...	.	0.12354	0.08886	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11977	255541	17	45364540	T	C	256225	Benign	Glanzmann_thrombasthenia|not_specified	0.09819	0.10286	0.14397	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11978	255535	17	45368337	A	C	256226	Benign	Glanzmann_thrombasthenia|not_specified|not_pro...	0.38505	.	0.43111	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11979	255536	17	45369777	A	G	256227	Benign	Glanzmann_thrombasthenia|not_specified	0.28395	0.28714	0.28734	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11980	255537	17	45369789	G	A	256228	Benign	Glanzmann_thrombasthenia|not_specified	0.28387	0.2873	0.28734	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11981	255538	17	45377825	T	C	256229	Benign	not_specified	0.08304	0.09057	0.12041	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11982	323884	17	45388241	C	T	346348	Likely_benign	Glanzmann_thrombasthenia	.	.	0.02356	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11983	323887	17	45388283	A	G	346364	Likely_benign	Glanzmann_thrombasthenia	.	.	0.1232	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11984	323891	17	45388586	T	A	346367	Benign	Glanzmann_thrombasthenia	.	.	0.72344	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11985	667952	17	46019322	C	T	669086	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11986	667950	17	46022330	G	A	669090	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11987	670594	17	46022889	C	T	669091	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11988	323918	17	46024660	A	C	345064	Benign	Pyridoxal_5'-phosphate-dependent_epilepsy	.	.	0.42552	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11989	323927	17	46025052	A	G	339061	Benign	Pyridoxal_5'-phosphate-dependent_epilepsy	.	.	0.6877	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11990	323940	17	46026156	A	G	345069	Benign	Pyridoxal_5'-phosphate-dependent_epilepsy	.	.	0.80791	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11991	768894	17	46802008	C	G	704194	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11992	324008	17	48067712	CT	C	346473	Likely_benign	Amelogenesis_Imperfecta,_Dominant	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11993	324013	17	48067953	T	C	329082	Benign	Amelogenesis_Imperfecta,_Dominant	.	.	0.65336	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11994	518262	17	48151908	T	C	508887	Benign	Interstitial_lung_disease,_nephrotic_syndrome,...	0.88582	0.8553	0.76278	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11995	254719	17	48243461	G	A	256266	Benign/Likely_benign	not_specified|not_provided	0.04575	0.05445	0.02835	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11996	669838	17	48243504	C	T	668060	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11997	684353	17	48243736	G	A	669391	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11998	669840	17	48245180	C	T	669395	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
11999	254718	17	48245269	C	A	256269	Benign	not_specified|not_provided	0.14224	.	0.1224	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12000	670060	17	48245547	A	G	668895	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12001	669841	17	48246162	G	A	669396	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12002	670061	17	48246231	C	T	669400	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12003	670546	17	48246827	C	T	669104	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12004	669842	17	48248267	A	T	668904	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12005	324072	17	48262119	G	A	339244	Likely_benign	Infantile_cortical_hyperostosis|Ehlers-Danlos_...	.	.	0.13119	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12006	324076	17	48262181	G	GTGCT	329121	Likely_benign	Infantile_cortical_hyperostosis|Ehlers-Danlos_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12007	324093	17	48262775	A	G	345156	Likely_benign	Infantile_cortical_hyperostosis|Ehlers-Danlos_...	.	.	0.37859	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12008	197918	17	48263021	C	T	195079	Benign/Likely_benign	Infantile_cortical_hyperostosis|Ehlers-Danlos_...	0.5103	0.5828	0.48502	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12009	674808	17	48265426	A	G	669404	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12010	285362	17	48265495	T	C	269599	Benign	not_specified	0.97095	0.98479	0.97883	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12011	674807	17	48266669	G	C	668911	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12012	254948	17	48267291	G	C	256272	Benign	not_specified	0.52492	.	0.54133	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12013	254947	17	48268223	A	G	256273	Benign/Likely_benign	Infantile_cortical_hyperostosis|Ehlers-Danlos_...	0.99985	0.99984	0.9998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12014	674806	17	48268626	A	G	668913	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12015	674805	17	48269302	G	A	669413	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12016	674804	17	48269426	C	T	669418	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12017	674803	17	48271433	A	G	669424	Benign	not_specified|not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12018	674802	17	48272055	C	T	669115	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12019	674978	17	48273439	T	C	669430	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12020	674801	17	48273464	T	C	669118	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12021	674977	17	48274291	T	G	668099	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12022	674976	17	48274309	T	C	669438	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12023	683350	17	48276162	C	T	668928	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12024	683343	17	48276252	A	G	669441	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12025	254949	17	48276971	G	C	256277	Benign	not_specified	0.55305	0.61874	0.51817	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12026	2533	17	48437456	C	G	17572	Benign	Pseudoxanthoma_elasticum,_modifier_of_severity...	.	.	0.251	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12027	377617	17	48653354	C	A	378501	Benign	not_specified	0.37423	0.55542	0.52396	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12028	259116	17	54921494	A	C	256279	Benign	not_specified	0.69691	.	0.69828	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12029	403102	17	56348230	T	G	390232	Benign	not_specified	0.15478	.	0.14976	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12030	403385	17	56492800	T	C	390363	Benign	not_specified	0.32831	0.4048	0.3738	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12031	324173	17	56769979	C	T	345189	Likely_benign	Fanconi_anemia|Breast_and_Ovarian_Cancer_Susce...	0.178	0.17967	0.15835	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12032	324219	17	57184162	A	C	329200	Benign	Mulibrey_nanism_syndrome	.	.	0.61182	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12033	369217	17	57184270	A	AG	353446	Benign	Mulibrey_nanism_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12034	324241	17	59533868	G	C	339409	Benign	Ischiopatellar_dysplasia	0.1184	0.23444	0.18011	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12035	324249	17	59534987	T	G	346635	Benign	Ischiopatellar_dysplasia|not_specified	0.14647	0.18756	0.20268	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12036	261035	17	59557600	C	T	256297	Benign	Ischiopatellar_dysplasia|not_specified	0.22236	0.14545	0.21326	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12037	324262	17	59560463	C	T	345229	Benign	Ischiopatellar_dysplasia	0.10649	0.10193	0.11562	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12038	324280	17	59561204	G	A	345251	Benign	Ischiopatellar_dysplasia	.	.	0.08247	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12039	324284	17	59561584	G	T	329230	Benign	Ischiopatellar_dysplasia	.	.	0.32308	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12040	324292	17	59757143	A	C	346660	Likely_benign	Neoplasm_of_the_breast|Fanconi_anemia	.	.	0.76218	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12041	324294	17	59757169	T	A	345269	Likely_benign	Neoplasm_of_the_breast|Fanconi_anemia	.	.	0.34225	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12042	324321	17	59758416	A	G	329244	Likely_benign	Neoplasm_of_the_breast|Fanconi_anemia	.	.	0.11961	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12043	210533	17	59758567	C	G	208407	Likely_benign	Neoplasm_of_the_breast|Fanconi_anemia|not_spec...	.	.	0.39217	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12044	324322	17	59758571	GGACA	G	339477	Likely_benign	Neoplasm_of_the_breast|Fanconi_anemia	.	.	0.38798	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12045	324335	17	59760174	G	A	329258	Likely_benign	Neoplasm_of_the_breast|Fanconi_anemia	.	.	0.626	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12046	324344	17	59760499	A	G	339494	Likely_benign	Neoplasm_of_the_breast|Fanconi_anemia	.	.	0.62181	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12047	183702	17	59760996	A	G	185195	Benign/Likely_benign	Neoplasm_of_the_breast|Neoplasm_of_ovary|Fanco...	0.60604	0.59412	0.62081	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12048	133756	17	59763347	A	G	137495	Benign/Likely_benign	Neoplasm_of_the_breast|Neoplasm_of_ovary|Famil...	0.61341	0.59722	0.6278	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12049	183703	17	59763465	T	C	185227	Benign/Likely_benign	Neoplasm_of_the_breast|Neoplasm_of_ovary|Fanco...	0.73428	0.71879	0.8151	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12050	679668	17	59820170	C	A	669160	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12051	262005	17	59857809	C	G	256299	Benign	not_specified	0.78588	.	0.78974	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12052	256799	17	61559923	C	T	256305	Benign	Renal_dysplasia|not_specified	0.33569	0.44916	0.42352	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12053	256800	17	61564052	A	G	256306	Benign	Renal_dysplasia|not_specified	0.44326	0.49989	0.52955	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12054	256802	17	61565990	G	C	256307	Benign	not_specified	0.43949	0.49965	0.52995	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12055	256801	17	61565998	A	C	256308	Benign	Renal_dysplasia|not_specified	0.41619	0.49958	0.52995	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12056	256803	17	61566031	G	A	256309	Benign	Renal_dysplasia|not_specified	0.56013	0.53726	0.64317	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12057	256804	17	61573761	T	C	256310	Benign	Renal_dysplasia|not_specified	0.50531	0.52334	0.58746	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12058	256806	17	61574492	G	A	256312	Benign	Renal_dysplasia|not_specified	0.49176	0.55618	0.58187	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12059	324435	17	61575454	A	ACT	339581	Benign	Renal_dysplasia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12060	324438	17	61575637	A	G	329331	Benign	Renal_dysplasia	.	.	0.65795	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12061	369220	17	61996204	T	C	353449	Likely_benign	Isolated_growth_hormone_deficiency	0.43079	.	0.36342	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12062	402520	17	62007498	A	G	390202	Benign	not_specified	0.65962	0.59517	0.5617	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12063	324474	17	62016440	G	GCA	339623	Benign	Paramyotonia_congenita_of_von_Eulenburg|Hypoka...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12064	324479	17	62016727	C	CACACATATAT	346754	Benign	Paramyotonia_congenita_of_von_Eulenburg|Hypoka...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12065	324494	17	62017421	A	G	339637	Benign	Paramyotonia_congenita_of_von_Eulenburg|Hypoka...	.	.	0.59605	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12066	92863	17	62019103	G	T	98770	Benign	Paramyotonia_congenita_of_von_Eulenburg|Hypoka...	0.17454	0.16388	0.14018	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12067	130236	17	62020348	T	C	135683	Benign	Paramyotonia_congenita_of_von_Eulenburg|Hypoka...	0.59934	0.52369	0.5615	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12068	669357	17	62020701	T	TCCCTCCTCCCCGGGGACC	669201	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12069	684260	17	62020838	G	A	669463	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12070	669356	17	62020866	A	G	668966	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12071	669355	17	62021374	C	T	668157	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12072	669353	17	62023128	C	T	668161	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12073	167652	17	62025238	G	T	178051	Benign	Paramyotonia_congenita_of_von_Eulenburg|Hypoka...	0.26365	0.31555	0.25439	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12074	130228	17	62041068	T	C	135675	Benign	Paramyotonia_congenita_of_von_Eulenburg|Hypoka...	0.91538	0.92884	0.94429	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12075	669352	17	62041317	G	T	668184	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12076	684257	17	62041558	G	T	668195	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12077	669351	17	62041604	A	G	668198	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12078	255843	17	62042078	T	C	256326	Benign	not_specified|not_provided	0.80146	0.88428	0.80831	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12079	669349	17	62043357	C	G	668987	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12080	684254	17	62044195	T	C	668991	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12081	684253	17	62044208	A	G	669478	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12082	669348	17	62048467	A	G	668204	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12083	255856	17	62049235	A	G	256334	Benign	not_specified|not_provided	0.98907	0.98776	0.99481	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12084	671347	17	62050513	C	T	669482	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12085	671344	17	62050528	T	C	669485	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12086	667974	17	62479273	A	C	669214	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12087	324630	17	63525082	A	T	345576	Benign	Oligodontia-colorectal_cancer_syndrome	.	.	0.42173	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12088	324633	17	63525300	G	T	339829	Benign	Oligodontia-colorectal_cancer_syndrome	.	.	0.08327	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12089	679667	17	63529821	C	T	668215	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12090	259512	17	63533423	C	A	256352	Benign	not_specified|not_provided	0.15754	0.12186	0.17412	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12091	259510	17	63533768	G	A	256353	Benign	Carcinoma_of_colon|Oligodontia-colorectal_canc...	0.54007	0.62364	0.44609	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12092	259509	17	63533789	T	C	256354	Benign	Oligodontia-colorectal_cancer_syndrome|not_spe...	0.91088	0.9144	0.90974	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12093	496274	17	63534478	G	A	488007	Benign	not_provided	0.14762	0.11876	0.16414	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12094	16042	17	64210757	C	A	31081	Benign	APOH_POLYMORPHISM	0.32969	.	0.54153	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12095	260831	17	66596463	C	T	256360	Benign	not_specified	0.12906	.	0.16953	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12096	517056	17	68096908	A	G	506140	Benign	not_specified	.	.	0.81849	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12097	324854	17	68173731	A	G	346989	Benign	Andersen_Tawil_syndrome|short_QT_syndrome|Fami...	.	.	0.58087	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12098	667624	17	70118699	G	A	668254	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12099	21164	17	70118935	C	T	34016	Benign	Camptomelic_dysplasia|not_specified|not_provided	0.16631	0.19328	0.13658	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12100	667625	17	70119245	C	G	669563	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12101	324922	17	70120551	A	C	339974	Benign	Camptomelic_dysplasia	0.36452	0.40114	0.35443	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12102	324931	17	70121339	A	G	347054	Benign	Camptomelic_dysplasia	.	.	0.5611	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12103	324944	17	70122108	G	A	347097	Benign	Camptomelic_dysplasia	.	.	0.32109	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12104	324949	17	70122505	CT	C	339992	Benign	Camptomelic_dysplasia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12105	324951	17	71189182	A	G	345723	Benign	Congenital_disorder_of_glycosylation	0.53788	0.52769	0.52596	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12106	95917	17	71192663	G	A	101813	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.44679	0.4969	0.44948	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12107	95919	17	71192873	A	G	101815	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.44872	0.50134	0.45128	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12108	95911	17	71196809	A	G	101807	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.53214	0.52312	0.52097	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12109	95914	17	71197748	G	A	101810	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.53506	.	0.52536	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12110	95916	17	71201675	T	C	101812	Benign	not_specified	0.91627	0.94419	0.86362	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12111	325000	17	72270423	GAGCCGCGACC	G	345743	Benign	Primary_ciliary_dyskinesia	.	.	0.38299	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12112	325001	17	72270442	A	G	340046	Benign	Primary_ciliary_dyskinesia	.	.	0.63179	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12113	261648	17	72281367	A	G	256376	Benign	not_specified	0.95418	0.98746	0.96146	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12114	261640	17	72306116	CCT	C	256389	Likely_benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12115	163171	17	72308319	G	A	176498	Benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	0.77026	0.85806	0.74082	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12116	261645	17	72308403	G	A	256394	Benign	not_specified	0.77434	0.85683	0.72264	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12117	261646	17	72308410	C	T	256395	Benign	not_specified	0.86463	0.91538	0.84066	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12118	325040	17	72913072	T	C	329799	Likely_benign	Retinitis_pigmentosa-deafness_syndrome	.	.	0.21366	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12119	379995	17	73257986	C	T	376658	Benign	not_specified	0.65995	0.79585	0.65735	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12120	325062	17	73269258	G	C	345823	Likely_benign	Amish_lethal_microcephaly	.	.	0.53654	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12121	130327	17	73269530	A	G	135774	Benign/Likely_benign	Amish_lethal_microcephaly|not_specified|not_pr...	0.86975	0.92898	0.90016	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12122	130333	17	73269676	C	T	135780	Benign/Likely_benign	Amish_lethal_microcephaly|not_specified|not_pr...	0.50308	0.65168	0.53015	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12123	130330	17	73279624	A	G	135777	Benign/Likely_benign	Amish_lethal_microcephaly|not_specified|not_pr...	0.93603	0.96167	0.88958	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12124	325069	17	73285461	A	C	347217	Likely_benign	Amish_lethal_microcephaly	.	.	0.86122	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12125	96673	17	73512653	G	T	102566	Benign	Pontoneocerebellar_hypoplasia|not_specified|no...	.	.	0.54373	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12126	160133	17	73513185	C	A	169401	Benign	not_specified	.	0.70737	0.45527	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12127	160123	17	73518203	G	C	169409	Benign	Pontoneocerebellar_hypoplasia|Pontocerebellar_...	0.5404	0.64141	0.44469	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12128	96670	17	73518284	G	C	102563	Benign	Pontoneocerebellar_hypoplasia|not_specified|no...	0.93503	0.87172	0.8143	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12129	160127	17	73519413	C	T	169413	Benign	Pontoneocerebellar_hypoplasia|not_specified|no...	0.6607	0.62413	0.5613	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12130	255542	17	73750859	C	G	256412	Benign	Deficiency_of_galactokinase|Epidermolysis_bull...	0.36552	.	0.3772	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12131	325232	17	73758832	G	A	347287	Conflicting_interpretations_of_pathogenicity	Deficiency_of_galactokinase|not_provided	0.00077	0.00056	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12132	263240	17	73824121	T	C	256415	Benign	Familial_hemophagocytic_lymphohistiocytosis|He...	0.51948	0.48439	0.52616	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12133	263236	17	73826406	G	C	256419	Benign	not_specified	0.19826	0.1856	0.16414	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12134	263228	17	73827205	T	C	256423	Benign	Familial_hemophagocytic_lymphohistiocytosis|He...	0.49308	0.36663	0.4994	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12135	325255	17	73830463	G	A	345985	Conflicting_interpretations_of_pathogenicity	Familial_hemophagocytic_lymphohistiocytosis|no...	8e-05	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12136	263222	17	73830996	C	T	256429	Benign/Likely_benign	Familial_hemophagocytic_lymphohistiocytosis|no...	0.20644	0.18974	0.15755	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12137	263247	17	73836162	C	G	256440	Benign	Familial_hemophagocytic_lymphohistiocytosis|He...	0.48408	.	0.49022	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12138	263229	17	73839214	G	C	256449	Benign	not_specified	0.22919	.	0.17712	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12139	263214	17	73839366	C	T	256451	Benign	Hemophagocytic_lymphohistiocytosis,_familial,_...	0.33116	0.25246	0.27736	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12140	325306	17	73938356	C	CA	347341	Likely_benign	Pseudoneonatal_adrenoleukodystrophy	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12141	325320	17	73938957	C	T	346044	Benign	Pseudoneonatal_adrenoleukodystrophy	.	0.57609	0.45068	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12142	325356	17	73941955	G	A	346060	Likely_benign	Pseudoneonatal_adrenoleukodystrophy	.	.	0.10963	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12143	325361	17	73942150	A	G	346062	Benign	Pseudoneonatal_adrenoleukodystrophy	.	.	0.46985	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12144	325365	17	73942196	C	G	347373	Likely_benign	Pseudoneonatal_adrenoleukodystrophy	.	.	0.02656	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12145	259223	17	73949540	G	C	256459	Benign	Pseudoneonatal_adrenoleukodystrophy|not_specif...	0.50869	0.64242	0.55072	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12146	325408	17	74467204	C	T	346095	Likely_benign	Howel-Evans_syndrome	.	.	0.01897	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12147	325455	17	74475024	G	A	347434	Benign	Howel-Evans_syndrome	0.79525	0.87865	0.76518	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12148	325469	17	74477620	C	T	340410	Benign	Howel-Evans_syndrome	0.12437	0.15246	0.14976	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12149	325499	17	74541129	A	G	340449	Benign	Retinitis_Pigmentosa,_Recessive	.	0.51753	0.47863	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12150	518264	17	75303298	T	C	508889	Benign	Amyotrophy,_hereditary_neuralgic	0.86233	0.88527	0.91873	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12151	518266	17	75401190	G	A	508891	Benign	Amyotrophy,_hereditary_neuralgic	.	0.29724	0.29673	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12152	325598	17	75495523	A	G	346243	Benign	Hereditary_Neuralgic_Amyotrophy_(HNA)	.	0.03702	0.01078	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12153	325614	17	75496460	T	C	330319	Benign	Hereditary_Neuralgic_Amyotrophy_(HNA)	.	.	0.43211	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12154	403548	17	76130575	A	T	390263	Benign	not_specified	0.5559	.	0.55232	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12155	403547	17	76131070	G	A	390212	Benign	not_specified	0.5765	0.53433	0.54034	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12156	403549	17	76134828	C	A	390381	Benign	not_specified	0.62302	0.58161	0.60184	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12157	402672	17	76423097	G	A	390396	Benign	not_specified	0.62248	0.74464	0.68451	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12158	402674	17	76433898	T	C	390282	Benign	not_specified	0.94715	0.98509	0.95088	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12159	402676	17	76449505	G	C	390285	Benign	not_specified	0.48516	0.51737	0.46645	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12160	402677	17	76462770	G	A	390401	Benign	not_specified	0.67002	0.73118	0.65016	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12161	402679	17	76472768	G	A	390269	Benign	not_specified	0.34348	0.27498	0.3756	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12162	402680	17	76481693	C	G	390288	Benign	not_specified	0.64483	0.67117	0.64237	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12163	402681	17	76482432	A	G	390405	Benign	not_specified	0.6351	.	0.65435	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12164	402684	17	76491194	G	A	390294	Benign	not_specified	0.21252	0.31701	0.23782	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12165	402685	17	76496492	A	G	390408	Benign	not_specified	0.85695	0.86251	0.92971	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12166	402686	17	76497920	C	A	390418	Benign	not_specified	0.64296	0.68229	0.73882	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12167	402687	17	76498692	C	T	390419	Benign	not_specified	0.86282	0.8652	0.93091	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12168	402688	17	76503527	G	A	390220	Benign	not_specified	0.32405	.	0.27935	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12169	402689	17	76503560	C	A	390271	Benign	not_specified	0.10766	.	0.08127	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12170	402690	17	76503593	T	C	390223	Benign	not_specified	0.65398	0.57368	0.57847	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12171	402692	17	76521121	T	C	390224	Benign	not_specified	0.19461	0.22338	0.14697	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12172	402693	17	76522785	C	T	390305	Benign	not_specified	0.12914	0.15255	0.09245	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12173	402694	17	76525565	A	G	390274	Benign	not_specified	0.62656	0.59035	0.59505	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12174	402695	17	76525759	G	C	390276	Benign	not_specified	0.14309	0.16571	0.1264	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12175	402696	17	76528591	C	T	390422	Benign	not_specified	0.52625	0.51006	0.46066	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12176	402697	17	76528790	A	G	390281	Benign	not_specified	0.52075	0.52359	0.45887	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12177	402698	17	76528831	G	A	390287	Benign	not_specified	0.52053	0.52995	0.47424	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12178	402699	17	76535948	T	C	390292	Benign	not_specified	0.76415	.	0.73802	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12179	402700	17	76556811	C	T	390309	Benign	not_specified	0.29807	0.43551	0.34764	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12180	402701	17	76557862	T	C	390424	Benign	not_specified	0.95118	.	0.9401	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12181	166807	17	78013724	G	C	176025	Benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	0.99378	.	0.95727	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12182	162850	17	78055758	T	G	176509	Benign	Primary_ciliary_dyskinesia|Ciliary_dyskinesia,...	0.52105	0.48872	0.46426	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12183	178711	17	78071052	T	C	176648	Benign	Primary_ciliary_dyskinesia|Glycogen_storage_di...	0.7372	.	0.71426	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12184	325769	17	78075462	G	C	346306	Likely_benign	Primary_ciliary_dyskinesia|Glycogen_storage_di...	.	.	0.11801	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12185	4020	17	78078656	G	A	19059	Benign,_other	Glycogen_storage_disease,_type_II|Acid_alpha-g...	.	.	0.01158	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12186	92484	17	78078709	T	C	98393	Benign	Primary_ciliary_dyskinesia|Glycogen_storage_di...	0.73158	0.73668	0.71446	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12187	680590	17	78079224	G	A	669114	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12188	680260	17	78079305	C	G	669116	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12189	680263	17	78079310	T	C	668277	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12190	255363	17	78079509	T	G	256515	Benign	not_specified	0.66915	0.67576	0.60563	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12191	92485	17	78079544	C	G	98394	Benign	Glycogen_storage_disease,_type_II|not_specifie...	0.67269	0.67586	0.60284	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12192	92486	17	78079597	A	G	98395	Benign	Glycogen_storage_disease,_type_II|not_specifie...	0.67254	0.67455	0.60084	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12193	92488	17	78079669	G	A	98397	Benign/Likely_benign	Glycogen_storage_disease,_type_II|not_specifie...	0.67241	0.67599	0.60244	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12194	680265	17	78081140	T	C	669594	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12195	92489	17	78081526	A	AGCAGCGG	98398	Benign	Glycogen_storage_disease,_type_II|not_specifie...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12196	167111	17	78081551	T	C	177734	Benign	not_specified	0.6636	0.67407	0.60104	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12197	92491	17	78081707	G	A	98400	Benign	Glycogen_storage_disease,_type_II|not_specifie...	0.69076	0.75026	0.60443	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12198	92461	17	78082504	G	A	98370	Benign	Glycogen_storage_disease,_type_II|not_specifie...	0.67077	0.67844	0.60284	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12199	680591	17	78083475	A	G	669364	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12200	680269	17	78083565	G	A	669366	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12201	92462	17	78083726	A	G	98371	Benign	Glycogen_storage_disease,_type_II|not_specifie...	0.7302	0.73124	0.71166	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12202	680270	17	78084306	A	G	669602	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12203	92464	17	78084507	G	C	98373	Benign	Glycogen_storage_disease,_type_II|not_specifie...	0.67031	0.67604	0.60304	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12204	255352	17	78084688	C	A	256521	Benign	not_specified	0.66985	0.67483	0.59924	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12205	92466	17	78084769	G	A	98375	Benign/Likely_benign	Glycogen_storage_disease,_type_II|not_specifie...	0.20937	0.23091	0.15955	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12206	92470	17	78086846	A	G	98379	Benign	Glycogen_storage_disease,_type_II|not_specifie...	0.73336	0.74408	0.71506	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12207	680592	17	78087428	G	A	669119	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12208	92474	17	78090928	G	A	98383	Benign	Glycogen_storage_disease,_type_II|not_specifie...	0.81916	0.75699	0.78934	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12209	680261	17	78091201	A	T	669122	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12210	92476	17	78091405	G	A	98385	Benign	Glycogen_storage_disease,_type_II|not_specifie...	0.7332	.	0.71186	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12211	92481	17	78092063	G	A	98390	Benign	Glycogen_storage_disease,_type_II|not_specifie...	0.6048	.	0.50939	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12212	495667	17	78092195	G	A	487921	Likely_benign	not_provided	0.00315	0.00344	0.002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12213	680272	17	78092844	C	T	669367	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12214	325806	17	78093549	G	T	330474	Likely_benign	Glycogen_storage_disease,_type_II	.	.	0.15595	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12215	402484	17	78162170	G	A	390428	Benign	not_specified	0.2984	0.34806	0.30132	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12216	402485	17	78171944	G	C	390226	Benign	not_specified	0.35914	.	0.37021	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12217	325821	17	78183936	G	A	346328	Benign	Sanfilippo_syndrome	.	.	0.44828	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12218	92610	17	78184393	C	T	98518	Benign	Sanfilippo_syndrome|Mucopolysaccharidosis,_MPS...	0.29394	0.35916	0.34585	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12219	92612	17	78187954	A	G	98520	Benign	Mucopolysaccharidosis,_MPS-III-A|not_specified...	0.46549	.	0.51418	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12220	255515	17	78188963	G	A	256542	Benign	not_specified|not_provided	0.54981	0.53559	0.55691	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12221	44151	17	79478007	G	A	53319	Benign	not_specified	0.31639	0.28824	0.1853	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12222	44150	17	79478019	G	A	53318	Benign	not_specified	0.75458	0.79022	0.75619	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12223	44147	17	79478916	G	T	53315	Benign	not_specified	0.41937	0.49892	0.55891	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12224	325850	17	79617534	A	G	330578	Benign	Retinitis_Pigmentosa,_Recessive	.	0.55598	0.66873	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12225	325854	17	79617705	G	A	347773	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	0.09039	0.07009	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12226	325857	17	79617830	G	A	346443	Likely_benign	Retinitis_Pigmentosa,_Recessive	.	0.10024	0.07009	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12227	325858	17	79617871	A	G	340825	Benign	Retinitis_Pigmentosa,_Recessive	.	0.56256	0.66873	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12228	325860	17	79618059	C	T	340827	Benign	Retinitis_Pigmentosa,_Recessive	0.43418	0.47475	0.58506	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12229	669504	17	79670122	G	A	669126	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12230	768922	17	79687218	G	A	704472	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12231	497969	17	79891147	T	C	489393	Benign	not_specified	0.98147	0.99508	0.98602	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12232	325923	17	79894886	C	T	346454	Uncertain_significance	Cutis_laxa,_recessive	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12233	402932	17	80377690	T	G	390333	Benign	not_specified	0.39966	.	0.48143	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12234	375663	18	673443	TTTAAAG	T	362508	drug_response	capecitabine_response_-_Efficacy|fluorouracil_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12235	260633	18	2705700	A	G	256625	Benign	not_specified	0.6083	0.68571	0.58467	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12236	260637	18	2707619	G	A	256629	Benign	not_specified	0.71153	0.69393	0.6903	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12237	260640	18	2724930	A	T	256632	Benign	not_specified|not_provided	0.32876	.	0.20627	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12238	260650	18	2763697	C	T	256639	Benign	not_specified	0.39654	0.37211	0.27576	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12239	260652	18	2771516	G	T	256641	Benign	not_specified	0.9822	0.99486	0.98043	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12240	326550	18	2917357	G	A	346757	Benign	Majeed_syndrome	.	.	0.54553	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12241	326612	18	2919606	A	T	331014	Benign	Majeed_syndrome	.	.	0.69129	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12242	260433	18	2920288	G	A	256646	Benign	Majeed_syndrome|not_specified	0.24742	0.31306	0.36222	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12243	668717	18	2922450	T	C	669699	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12244	676925	18	2927023	G	T	669708	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12245	439863	18	2937646	A	G	433667	Benign	Majeed_syndrome	0.29009	.	0.41354	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12246	676922	18	2961033	T	A	668327	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12247	226828	18	3067278	A	G	230806	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.57065	0.5696	0.59445	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12248	226826	18	3075712	C	A	230810	Benign	not_specified	0.59186	0.53987	0.6228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12249	226825	18	3075746	G	A	230812	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.16037	0.2142	0.18351	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12250	226821	18	3089522	G	T	230819	Benign	not_specified	0.8073	0.80922	0.80032	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12251	226819	18	3100429	G	A	230821	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.36698	0.44224	0.34804	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12252	226815	18	3126811	A	G	230838	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.17958	0.19973	0.25439	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12253	226796	18	3176040	C	G	230883	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.74563	.	0.75719	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12254	226830	18	3188976	A	G	230890	Benign	not_specified|Cardiovascular_phenotype|not_pro...	0.34133	0.43735	0.44329	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12255	674961	18	3447871	T	C	669466	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12256	403532	18	3452222	CT	C	390317	Benign	not_specified	.	0.32956	0.25559	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12257	777265	18	3879181	C	T	704599	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12258	803471	18	6997818	A	C	791881	Benign	Poretti-Boltshauser_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12259	803472	18	7031986	T	TA	791882	Benign	Poretti-Boltshauser_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12260	803473	18	7034508	T	G	791883	Benign	Poretti-Boltshauser_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12261	9054	18	9117867	T	C	24093	Benign	Parkinson_disease,_mitochondrial|Mitochondrial...	.	0.80008	0.77895	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12262	678068	18	9119156	T	C	669645	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12263	129703	18	9119489	A	T	135149	Benign/Likely_benign	Mitochondrial_complex_I_deficiency|MITOCHONDRI...	0.12981	0.08497	0.07508	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12264	369253	18	9134354	C	G	353482	Likely_benign	Mitochondrial_complex_I_deficiency	.	.	0.07548	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12265	261527	18	10691216	G	A	256560	Benign	not_specified	0.37783	0.34781	0.3143	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12266	261526	18	10691357	G	A	256561	Benign	not_specified	0.29533	0.28453	0.20108	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12267	261525	18	10696227	C	T	256562	Benign	not_specified	0.32077	0.29075	0.21925	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12268	261510	18	10741011	G	A	256577	Benign	not_specified	0.84275	0.8004	0.84365	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12269	261509	18	10748603	A	T	256578	Benign	not_specified	0.65637	.	0.64697	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12270	261508	18	10752666	C	T	256579	Benign	not_specified	0.30924	0.26542	0.33187	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12271	261507	18	10758023	G	A	256580	Benign	not_specified	0.82392	0.79616	0.82308	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12272	261505	18	10762962	G	A	256582	Benign	not_specified	0.78909	0.78496	0.77895	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12273	261504	18	10763007	T	C	256583	Benign	not_specified	0.8364	0.8011	0.83806	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12274	261503	18	10787047	G	A	256584	Benign	not_specified	0.83677	0.85376	0.86242	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12275	626331	18	11876613	T	G	614665	Benign	Dystonia_25	0.05851	0.0628	0.04393	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12276	677942	18	12337688	G	C	669627	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12277	683211	18	12343871	A	G	669386	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12278	128287	18	12348285	T	C	133736	Benign	not_specified|Spinocerebellar_Ataxia,_Dominant...	0.77926	0.74925	0.70986	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12279	128286	18	12351342	C	T	133735	Benign	not_specified|Spinocerebellar_Ataxia,_Dominant...	0.68615	0.72054	0.6232	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12280	683207	18	12359215	A	T	669388	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12281	136312	18	12359920	G	A	140015	Benign	not_specified|Spinocerebellar_Ataxia,_Dominant...	0.68484	0.71767	0.61961	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12282	326126	18	13882230	G	C	346568	Benign	Glucocorticoid_Deficiency	.	.	0.5012	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12283	326145	18	13883525	T	A	340986	Benign	Glucocorticoid_Deficiency	.	.	0.52117	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12284	326174	18	13883939	C	T	346601	Benign	Glucocorticoid_Deficiency	.	.	0.50659	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12285	326175	18	13884009	G	A	330801	Benign	Glucocorticoid_Deficiency	.	.	0.34105	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12286	326188	18	13884513	C	T	346613	Benign	Glucocorticoid_Deficiency	.	.	0.21426	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12287	326189	18	13884566	C	T	346614	Benign	Glucocorticoid_Deficiency	.	.	0.50459	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12288	326194	18	13884981	C	T	341049	Conflicting_interpretations_of_pathogenicity	Glucocorticoid_Deficiency|not_provided	0.00031	0.00073	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12289	678135	18	19399738	T	A	669668	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12290	678067	18	19423963	GT	G	669672	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12291	404060	18	19752072	T	TACC	403233	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12292	684037	18	20516374	C	A	669410	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12293	684038	18	20516381	C	T	669414	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12294	673936	18	20555219	T	C	669415	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12295	669107	18	20562518	G	A	669685	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12296	670487	18	20568937	G	A	669686	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12297	684045	18	20577330	G	A	669693	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12298	673333	18	20577456	T	A	669695	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12299	558880	18	21120381	T	TA	549772	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12300	193982	18	21124907	A	AC	191145	Benign/Likely_benign	Niemann-Pick_disease_type_C1|not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12301	92701	18	21124945	C	G	98608	Benign	Niemann-Pick_disease,_type_C|Niemann-Pick_dise...	0.73466	0.71772	0.83167	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12302	129811	18	21148863	A	G	135257	Benign/Likely_benign	Niemann-Pick_disease,_type_C|Niemann-Pick_dise...	0.13809	0.14444	0.10982	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12303	326289	18	21166545	G	C	347983	Likely_benign	Niemann-Pick_disease,_type_C	.	.	0.09066	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12304	403025	18	21413869	T	C	390339	Benign	not_specified	0.64954	0.66313	0.6244	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12305	403026	18	21437931	G	C	390344	Benign	not_specified	0.51728	0.49624	0.34365	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12306	403027	18	21441717	C	T	390346	Benign	not_specified	0.50315	0.49954	0.34066	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12307	285244	18	21494685	A	G	269481	Uncertain_significance	Epidermolysis_bullosa,_junctional|Laryngoonych...	0.00031	0.0003	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12308	255576	18	21511089	A	G	256613	Benign	Epidermolysis_bullosa,_junctional|Laryngoonych...	.	0.99998	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12309	255577	18	21511172	G	C	256614	Benign	Epidermolysis_bullosa,_junctional|Laryngoonych...	0.96079	.	0.94888	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12310	255579	18	21526087	C	T	256616	Likely_benign	not_specified	0.54644	0.53632	0.35963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12311	255580	18	21529722	G	A	256617	Benign	Epidermolysis_bullosa,_junctional|Laryngoonych...	0.5446	0.53773	0.35903	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12312	402800	18	28611139	A	C	390307	Benign	not_specified	0.99992	0.99998	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12313	672125	18	28659724	T	C	669745	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12314	672124	18	28660500	A	G	668334	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12315	683467	18	28660611	T	C	668344	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12316	683843	18	28663301	GCGAGGCAGGAGAATCACA	G	669755	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12317	672123	18	28667964	G	A	669220	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12318	683468	18	28669839	C	T	669434	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12319	672107	18	28671212	T	G	669225	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12320	671090	18	28673894	A	G	668367	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12321	402801	18	28898294	A	G	390348	Benign	not_specified	0.47993	0.43443	0.36262	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12322	402802	18	28913599	C	T	390312	Benign	not_specified	0.43649	0.43435	0.32768	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12323	326416	18	28956904	C	T	348146	Likely_benign	Localized_AR_Hypotrichosis	0.14124	0.14315	0.12161	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12324	326418	18	28968371	G	A	346896	Benign	Localized_AR_Hypotrichosis	0.69433	0.74527	0.72065	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12325	326421	18	28968959	C	T	341369	Benign	Localized_AR_Hypotrichosis	0.77876	0.77427	0.80491	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12326	326441	18	28986333	A	C	331139	Benign	Localized_AR_Hypotrichosis	0.92434	0.92026	0.96586	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12327	326452	18	28993183	A	G	348172	Benign	Localized_AR_Hypotrichosis	0.39174	0.44302	0.39337	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12328	326458	18	28993501	C	A	341405	Benign	Localized_AR_Hypotrichosis	0.72193	0.72391	0.74321	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12329	683472	18	29078516	A	C	669769	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12330	672609	18	32346149	G	T	669801	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12331	683478	18	32373716	A	T	669803	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12332	683479	18	32373736	A	C	669804	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12333	671111	18	32459704	A	G	669509	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12334	672662	18	32461896	A	G	668453	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12335	672665	18	32462365	C	T	669840	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12336	683485	18	32462418	C	T	669842	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12337	672694	18	32464945	G	C	668454	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12338	137181	18	32470291	G	A	140884	Benign	not_specified	.	0.24061	0.26697	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12339	159884	18	42456653	G	A	169419	Likely_benign	not_specified	.	0.50727	0.49301	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12340	326725	18	42456670	C	CTCTT	331273	Benign	Schinzel-Giedion_syndrome|not_specified	0.5344	0.51458	0.49381	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12341	159885	18	42529996	G	C	169420	Benign	Schinzel-Giedion_syndrome|not_specified|not_pr...	0.1853	.	0.15675	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12342	159875	18	42533130	A	G	169429	Benign	Schinzel-Giedion_syndrome|not_specified|not_pr...	0.89959	0.87748	0.90695	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12343	159881	18	42643426	G	A	169435	Conflicting_interpretations_of_pathogenicity	Schinzel-Giedion_syndrome|not_specified	.	0	0.0006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12344	326796	18	42646634	AT	A	347040	Benign	Schinzel-Giedion_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12345	673502	18	43481075	G	A	656487	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12346	680068	18	43490602	G	A	656488	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12347	402833	18	43497710	A	G	390442	Benign	Vici_syndrome|not_specified|not_provided	0.47968	0.4909	0.42692	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12348	683334	18	43666774	T	C	669516	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12349	683333	18	43666786	C	T	669518	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12350	377534	18	43669980	T	C	375923	Benign	not_specified	0.40997	0.38162	0.31589	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12351	683326	18	43670190	T	C	668456	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12352	683323	18	43671400	T	C	669523	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12353	683322	18	43672015	T	C	669851	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12354	683320	18	43675364	T	C	669525	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12355	683319	18	43678625	G	C	668463	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12356	262524	18	44063718	AC	A	256660	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.23966	0.26875	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12357	178394	18	44087489	C	T	176692	Conflicting_interpretations_of_pathogenicity	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.00153	0.00465	0.0016	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12358	163895	18	44087504	G	A	176555	Benign/Likely_benign	not_specified|not_provided	0.0011	0.00144	0.0002	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12359	191090	18	44109033	T	C	188895	Benign	Deafness,_autosomal_recessive_77|not_specified	.	.	0.62021	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12360	47934	18	44126909	T	C	57098	Benign/Likely_benign	Deafness,_autosomal_recessive_77|not_specified...	0.77157	0.76751	0.69469	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12361	668869	18	44682891	C	T	669542	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12362	675460	18	44702502	A	C	669552	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12363	326924	18	47349546	A	AT	348441	Uncertain_significance	Diarrhea_with_Microvillus_Atrophy	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12364	326956	18	47350753	T	C	347141	Uncertain_significance	Diarrhea_with_Microvillus_Atrophy	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12365	326957	18	47350832	A	T	348461	Uncertain_significance	Diarrhea_with_Microvillus_Atrophy	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12366	326990	18	47352533	G	A	347160	Benign	Diarrhea_with_Microvillus_Atrophy	.	.	0.53534	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12367	327014	18	47375932	C	G	348523	Benign	Congenital_microvillous_atrophy|not_specified|...	0.46357	.	0.35403	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12368	327025	18	47398549	G	A	348528	Benign	not_specified|Diarrhea_with_Microvillus_Atrophy	0.21451	0.25335	0.29992	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12369	327028	18	47404124	A	G	348529	Benign/Likely_benign	not_specified|Diarrhea_with_Microvillus_Atrophy	0.04171	0.05913	0.05312	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12370	327030	18	47405304	A	G	347190	Benign	not_specified|Diarrhea_with_Microvillus_Atrophy	0.20262	.	0.28974	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12371	327031	18	47405425	T	TGAG	347192	Benign	not_specified|Diarrhea_with_Microvillus_Atrophy	0.3017	0.34201	0.40475	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12372	327053	18	47455923	C	T	341822	Benign	Congenital_microvillous_atrophy|not_specified|...	0.5137	0.48307	0.41134	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12373	327087	18	47563299	T	C	341861	Benign	Congenital_microvillous_atrophy|not_specified|...	0.97721	0.99309	0.97344	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12374	262560	18	47777244	C	T	256670	Benign	not_specified	0.30506	0.30029	0.19349	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12375	262557	18	47777358	T	A	256673	Benign	not_specified	0.32024	0.29607	0.29653	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12376	262553	18	47778172	A	G	256676	Benign	not_specified	0.3185	0.31905	0.20088	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12377	680783	18	48572984	G	A	668486	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12378	677079	18	48581601	C	A	669334	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12379	680784	18	48593133	G	A	669338	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12380	680785	18	48603403	T	C	669342	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12381	327175	18	48609968	A	G	347320	Benign	Myhre_syndrome|Hereditary_hemorrhagic_telangie...	.	.	0.20268	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12382	327208	18	48610697	CAAGAA	C	331704	Benign	Myhre_syndrome|Hereditary_hemorrhagic_telangie...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12383	327211	18	48610831	A	C	347339	Benign	Myhre_syndrome|Hereditary_hemorrhagic_telangie...	.	.	0.3782	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12384	769443	18	48723145	CGCCGCCGCG	C	704620	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12385	327228	18	52889967	T	C	347356	Benign	Pitt-Hopkins_syndrome	.	.	0.39736	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12386	327231	18	52890160	A	G	341965	Benign	Pitt-Hopkins_syndrome	.	.	0.44369	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12387	327244	18	52890946	T	TTC	348698	Benign	Pitt-Hopkins_syndrome	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12388	327246	18	52891178	A	G	341976	Likely_benign	Pitt-Hopkins_syndrome	.	.	0.0024	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12389	327268	18	52892561	GACT	G	348735	Likely_benign	Pitt-Hopkins_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12390	327285	18	52893504	AT	A	342011	Benign	Pitt-Hopkins_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12391	327287	18	52893926	G	GA	342018	Benign	Pitt-Hopkins_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12392	327293	18	52894479	C	CAA	342031	Benign	Pitt-Hopkins_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12393	93544	18	52895531	T	C	99449	Benign	Pitt-Hopkins_syndrome|History_of_neurodevelopm...	0.36468	0.37136	0.34245	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12394	670816	18	52896000	A	G	668503	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12395	670815	18	52896003	A	G	669348	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12396	668653	18	52896630	G	T	669558	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12397	672226	18	52901607	A	G	669561	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12398	670687	18	52922000	T	C	669572	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12399	670703	18	52924317	C	G	669353	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12400	673242	18	52924695	C	T	669584	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12401	672225	18	52927400	T	C	668507	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12402	160089	18	52942827	G	A	169448	Benign	not_specified|not_provided	0.53345	0.48925	0.57029	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12403	160083	18	53070914	G	A	169454	Benign	not_specified|not_provided	.	0.21729	0.19229	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12404	679855	18	53177670	T	C	669880	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12405	674957	18	53177740	A	T	668513	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12406	674956	18	53177774	G	C	669372	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12407	674955	18	53178061	G	A	668520	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12408	803498	18	53303101	C	G	791872	Benign	Pitt-Hopkins_syndrome	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12409	327316	18	55212316	G	T	348769	Benign	Protoporphyria,_erythropoietic,_1	.	.	0.22863	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12410	327328	18	55213058	A	C	342067	Benign	Protoporphyria,_erythropoietic,_1	.	.	0.17492	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12411	327335	18	55213381	C	A	347443	Benign	Protoporphyria,_erythropoietic,_1	.	.	0.76538	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12412	327366	18	55215119	T	C	331802	Benign	Protoporphyria,_erythropoietic,_1	.	.	0.9992	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12413	327373	18	55215418	A	G	348807	Benign	Protoporphyria,_erythropoietic,_1	.	.	0.9992	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12414	255312	18	55221648	T	C	256682	Benign	Protoporphyria,_erythropoietic,_1|not_specified	0.76465	0.70297	0.75759	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12415	255311	18	55226383	G	C	256683	Benign	Protoporphyria,_erythropoietic,_1|not_specified	0.76365	.	0.7496	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12416	327434	18	55240505	C	T	331897	Benign	Protoporphyria,_erythropoietic,_1	0.12141	0.10291	0.05172	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12417	550	18	55247454	G	A	15589	Benign	Jaundice|Erythema|Protoporphyria,_erythropoiet...	0.2588	.	0.33467	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12418	327440	18	55313783	A	T	347495	Benign	Progressive_familial_intrahepatic_cholestasis	.	.	0.14716	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12419	327445	18	55314466	A	G	342149	Benign	Progressive_familial_intrahepatic_cholestasis	.	.	0.14736	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12420	327449	18	55314820	C	A	331916	Benign	Progressive_familial_intrahepatic_cholestasis	.	.	0.46605	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12421	259823	18	55315959	G	A	256688	Benign	Progressive_familial_intrahepatic_cholestasis|...	0.18116	0.23062	0.14058	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12422	259828	18	55362532	T	G	256696	Benign	Progressive_familial_intrahepatic_cholestasis|...	0.9897	.	0.99261	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12423	259827	18	55364830	G	A	256697	Benign	not_specified	0.41181	0.47626	0.44209	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12424	259826	18	55364852	A	G	256698	Benign	Progressive_familial_intrahepatic_cholestasis|...	0.99308	.	0.99461	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12425	225996	18	55816791	G	A	227795	drug_response	diuretics_response_-_Efficacy|hydrochlorothiaz...	0.34034	0.28408	0.27616	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12426	417001	18	55996244	C	T	402844	Benign	not_provided	0.00404	0.00412	0.0012	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12427	327514	18	56934863	GCC	G	347559	Likely_benign	Anophthalmia_-_microphthalmia	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12428	327519	18	56934917	G	A	348931	Likely_benign	Anophthalmia_-_microphthalmia	.	.	0.21446	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12429	327521	18	56934964	C	T	342194	Likely_benign	Anophthalmia_-_microphthalmia	.	.	0.20567	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12430	327539	18	56995396	A	G	348942	Benign	Combined_deficiency_of_factor_V_and_factor_VII...	.	.	0.32608	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12431	259793	18	57000303	G	A	256703	Benign	not_specified	0.34953	0.31633	0.35603	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12432	327583	18	57098195	G	T	342223	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.79273	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12433	327588	18	57098344	C	T	342225	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.82109	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12434	327591	18	57098391	G	A	348981	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.85982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12435	327594	18	57098636	C	G	347639	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.4401	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12436	327596	18	57098713	TG	T	348983	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12437	327597	18	57098742	G	T	342230	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.85963	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12438	327603	18	57099335	A	G	348991	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.85903	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12439	327620	18	57100187	G	GT	342242	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12440	327633	18	57100410	T	C	347684	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.4349	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12441	327639	18	57100768	G	A	349014	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.85523	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12442	327640	18	57100779	C	T	347693	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.54054	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12443	327645	18	57100898	A	G	347695	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.85264	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12444	327646	18	57100913	C	T	332078	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.85124	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12445	327655	18	57101120	G	A	342260	Likely_benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.09365	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12446	327683	18	57102326	A	C	332119	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	0.30132	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12447	262349	18	57103126	G	A	256709	Conflicting_interpretations_of_pathogenicity	Hennekam_lymphangiectasia-lymphedema_syndrome_...	0.00976	0.01004	0.00699	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12448	262355	18	57115203	T	C	256712	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_...	0.61049	0.53108	0.54094	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12449	262353	18	57134152	A	G	256714	Benign	not_specified	0.9541	0.9873	0.95627	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12450	262352	18	57136869	A	G	256715	Benign	not_specified	0.45502	0.453	0.43231	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12451	803505	18	57136943	G	A	791879	Benign	Hennekam_lymphangiectasia-lymphedema_syndrome_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12452	225961	18	57851097	T	C	227796	drug_response	antipsychotics_response_-_Toxicity/ADR	.	.	0.24002	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12453	226003	18	57882787	C	A	227797	drug_response	amisulpride_response_-_Toxicity/ADR|aripiprazo...	.	.	0.35124	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12454	518281	18	59805532	T	C	508906	Benign	History_of_neurodevelopmental_disorder|Multipl...	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12455	259177	18	59992547	G	A	256719	Benign/Likely_benign	Osteopetrosis|Paget_disease_of_bone|not_specified	.	.	0.23682	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12456	193259	18	59992577	T	C	190423	Benign/Likely_benign	Osteopetrosis|Paget_disease_of_bone|not_specified	.	0.125	0.23502	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12457	259183	18	60036083	A	G	256723	Benign/Likely_benign	Osteopetrosis|Paget_disease_of_bone|not_specified	0.95348	0.95622	0.98083	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12458	684156	18	67671745	T	C	669610	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12459	684155	18	67672139	T	C	669881	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12460	130188	18	67718688	A	G	135635	Benign	not_specified	0.80269	0.91844	0.79074	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12461	684154	18	67741490	G	C	669616	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12462	670493	18	67788599	T	C	668532	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12463	684135	18	67857478	T	A	669622	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12464	684134	18	67858249	T	C	669890	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12465	327761	18	67863850	T	TCTC	349148	Benign	not_specified|Disease_Association_NOS|not_prov...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12466	130179	18	67871343	A	C	135626	Benign	not_specified	0.72727	.	0.71226	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12467	130821	18	72343008	T	C	136266	Likely_benign	not_specified	0.99875	0.98983	0.99361	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12468	130826	18	72776121	G	A	136271	Likely_benign	not_specified	0.76151	0.83219	0.76038	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12469	327774	18	72922851	AG	A,AGGG	349158	Benign	Aural_atresia,_congenital	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12470	327778	18	72922958	A	AG	332189	Uncertain_significance	Aural_atresia,_congenital	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12471	193292	18	77440128	T	G	190456	Benign	not_specified	.	0.67924	0.65535	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12472	259524	18	77470834	C	T	256726	Benign	not_specified	.	.	0.73502	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12473	803507	18	77488698	G	GTGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCA	791884	Benign	Congenital_Cataracts,_Facial_Dysmorphism,_and_...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12474	128865	18	77513721	T	C	134313	Benign	Congenital_Cataracts,_Facial_Dysmorphism,_and_...	0.89643	0.96657	0.89517	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12475	773075	19	804921	C	T	705350	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12476	667820	19	851976	G	A	670430	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12477	137199	19	855966	C	A	140902	Benign	not_specified	0.13142	.	0.04852	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12478	402532	19	860852	G	C	390449	Benign	not_specified	0.54052	0.59138	0.4409	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12479	286524	19	917526	A	G	270761	Benign	not_specified|not_provided	0.12123	0.25911	0.1863	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12480	447660	19	920642	T	A	442261	Benign	not_specified	.	0.78271	0.78395	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12481	328217	19	1206602	C	T	332571	Likely_benign	Peutz-Jeghers_syndrome	.	.	0.00379	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12482	256203	19	1207238	G	T	256769	Benign	not_specified	0.22951	0.32474	0.35344	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12483	256205	19	1219274	G	A	256771	Benign	not_specified	0.42364	0.46605	0.53015	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12484	256206	19	1219443	G	GCGGGGGC	256772	Likely_benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12485	328243	19	1228191	T	C	332606	Benign	Peutz-Jeghers_syndrome	.	.	0.70787	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12486	671566	19	1384246	C	T	668709	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12487	683138	19	1388320	G	A	670152	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12488	129702	19	1388538	C	T	135148	Likely_benign	Leigh_syndrome|Mitochondrial_complex_I_deficie...	0.54062	0.55022	0.45567	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12489	684336	19	1391327	C	T	669861	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12490	683141	19	1391361	A	G	669623	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12491	21067	19	1399056	C	T	33919	Benign	Deficiency_of_guanidinoacetate_methyltransfera...	0.15293	0.12942	0.11322	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12492	440243	19	1438865	C	T	433894	Benign	not_specified	0.04859	0.08728	0.04932	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12493	430490	19	1496404	G	A	422250	Uncertain_significance	not_provided	0.00085	0.00083	0.0004	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12494	381531	19	2251247	A	G	377366	Benign/Likely_benign	Persistent_Mullerian_duct_syndrome|not_specifi...	.	0.00839	0.00479	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12495	518297	19	2251512	T	A	508922	Benign	Persistent_Mullerian_duct_syndrome	.	0.82257	0.91893	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12496	46571	19	3586543	G	A	55736	Benign	not_specified	0.25965	0.14678	0.22684	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12497	682948	19	3589413	T	C	669896	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12498	46572	19	3589435	C	T	55737	Benign	not_specified	0.2322	.	0.20447	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12499	263264	19	3595032	C	T	256888	Benign	not_specified	0.40766	0.42364	0.32967	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12500	263269	19	3595794	A	G	256889	Benign	not_specified	0.70316	0.59817	0.54173	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12501	263267	19	3600198	C	T	256891	Benign	not_specified	.	.	0.05371	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12502	328952	19	3769753	G	A	343371	Benign	Macular_degeneration|Cone-Rod_Dystrophy,_Dominant	.	.	0.81689	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12503	329155	19	3924771	AT	A	333494	Benign	Cerebellar_ataxia,_Cayman_type	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12504	329196	19	3927176	A	G	333507	Benign	Cerebellar_ataxia,_Cayman_type	.	.	0.83287	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12505	128959	19	3977486	A	G	134406	Benign	not_specified|not_provided	0.85348	0.84985	0.91314	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12506	128958	19	3979408	A	G	134405	Benign	not_specified|not_provided	0.85353	0.84927	0.91314	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12507	561820	19	4094775	G	A	553028	Benign	not_provided	.	.	0.45447	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12508	40835	19	4099187	T	C	49305	Benign	Cardiofaciocutaneous_syndrome_4|not_specified|...	0.74413	0.77176	0.77356	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12509	40816	19	4101062	G	T	49286	Benign	Cardiofaciocutaneous_syndrome_4|Rasopathy|not_...	0.41794	0.54717	0.43331	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12510	561536	19	4102132	A	C	553038	Benign	not_provided	.	.	0.33007	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12511	561366	19	4117290	T	C	553042	Benign	not_provided	.	.	0.79553	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12512	403542	19	4818378	T	C	390426	Benign	not_specified	0.73151	0.6652	0.72564	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12513	242770	19	5844792	A	C	32755	.	.	.	.	0.2528	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12514	768957	19	5866736	T	C	705303	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12515	330240	19	5903807	G	T	349414	Likely_benign	Mitochondrial_complex_I_deficiency	.	0.67498	0.68151	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12516	330244	19	5903936	T	C	334435	Likely_benign	Mitochondrial_complex_I_deficiency	.	0.74887	0.72664	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12517	330250	19	6494502	T	C	344317	Benign	Dystonia|Leukodystrophy,_hypomyelinating,_6	.	.	0.40156	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12518	330285	19	6681991	G	A	349446	Benign	Macular_degeneration|C3_deficiency|Atypical_he...	0.08696	0.08525	0.09125	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12519	330310	19	6707129	G	A	350452	Likely_benign	Macular_degeneration|C3_deficiency|Atypical_he...	0.00262	0.00209	0.0008	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12520	403601	19	6821625	C	T	390471	Benign	not_specified	0.14563	0.12702	0.09285	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12521	403602	19	6822219	T	C	390329	Benign	not_specified	0.22143	0.26094	0.21126	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12522	330380	19	7114288	C	T	350496	Benign	Leprechaunism_syndrome|Pineal_hyperplasia_AND_...	.	.	0.71765	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12523	330433	19	7116778	TG	T	350526	Benign	Leprechaunism_syndrome|Pineal_hyperplasia_AND_...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12524	330436	19	7116963	T	C	334616	Benign	Leprechaunism_syndrome|Pineal_hyperplasia_AND_...	.	.	0.8774	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12525	14707	19	7125518	C	T	29746	Conflicting_interpretations_of_pathogenicity	Diabetes_mellitus_type_2|Insulin-resistant_dia...	.	0.009	0.00499	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12526	439832	19	7166138	G	A	433296	Benign	not_specified	0.20206	0.23924	0.20427	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12527	198697	19	7166376	C	T	195858	Benign	Leprechaunism_syndrome|Pineal_hyperplasia_AND_...	0.22551	.	0.24481	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12528	439831	19	7167951	T	G	433297	Benign	not_specified	0.23143	.	0.2478	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12529	439830	19	7170517	A	G	433299	Benign	not_specified	0.54183	0.47221	0.54972	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12530	193063	19	7293898	G	C	190228	Benign	Leprechaunism_syndrome|Pineal_hyperplasia_AND_...	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12531	261324	19	7593589	C	T	257262	Benign/Likely_benign	Mucolipidosis_type_IV|not_specified|not_provided	0.30186	0.28745	0.25559	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12532	129977	19	7606908	G	C	135423	Benign/Likely_benign	not_specified|Spastic_Paraplegia,_Recessive|no...	0.17815	.	0.11841	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12533	330520	19	7607441	C	T	344527	Benign/Likely_benign	not_specified|Spastic_Paraplegia,_Recessive	0.34512	0.28137	0.24381	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12534	330522	19	7607564	T	C	334701	Benign	not_specified|Spastic_Paraplegia,_Recessive|no...	0.69964	0.63855	0.69449	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12535	129978	19	7615903	G	A	135424	Benign/Likely_benign	not_specified|Spastic_Paraplegia,_Recessive	0.23216	0.2136	0.20208	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12536	380864	19	7619760	A	C	379673	Benign	not_specified	0.35639	0.3688	0.34705	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12537	380865	19	7620116	A	G	376888	Benign	not_specified	0.35905	0.39249	0.34685	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12538	680709	19	7620914	A	G	668986	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12539	378402	19	7621475	T	G	376892	Benign	not_specified	0.178	0.12977	0.1256	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12540	680710	19	7623474	T	C	670169	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12541	667947	19	7623621	T	TTCTC	670093	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12542	240699	19	7623941	G	A	243570	Conflicting_interpretations_of_pathogenicity	Spastic_paraplegia_39|not_specified|Spastic_Pa...	0.0103	0.01098	0.00419	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12543	680711	19	7624335	C	T	670174	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12544	429198	19	7626013	AC	A	422303	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12545	683454	19	7694393	G	A	668992	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12546	683460	19	7695977	C	G	670177	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12547	683462	19	7696138	G	A	670415	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12548	403501	19	7698320	C	T	390372	Benign	not_specified	0.29894	0.39025	0.2478	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12549	260104	19	7703605	C	T	257265	Benign	Familial_hemophagocytic_lymphohistiocytosis|no...	0.42657	0.40437	0.48243	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12550	260087	19	7710040	T	C	257278	Benign	not_specified	0.41943	0.39318	0.52696	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12551	260088	19	7710210	A	G	257280	Benign	not_specified	0.42543	0.46196	0.51637	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12552	260089	19	7711221	T	C	257281	Benign	Familial_hemophagocytic_lymphohistiocytosis|no...	0.41556	0.46264	0.50419	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12553	260092	19	7712161	C	T	257284	Benign	not_specified	0.10117	0.10568	0.05611	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12554	260094	19	7712277	A	G	257286	Benign	Familial_hemophagocytic_lymphohistiocytosis|He...	0.66731	0.63516	0.70607	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12555	260100	19	7712425	G	C	257290	Benign	not_specified	0.34413	0.35822	0.3157	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12556	260102	19	7712585	T	G	257292	Benign	not_specified	0.66639	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12557	137647	19	7992976	T	C	141350	Benign	not_specified|not_provided	0.03245	0.03077	0.01418	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12558	137657	19	8000045	C	T	141360	Benign	not_specified	0.27046	0.26128	0.17272	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12559	508144	19	8612914	G	A	508029	Benign	not_specified	0.07063	0.08549	0.1284	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12560	518307	19	8645786	A	C	508932	Benign	Weill-Marchesani_syndrome_1|not_provided	0.99985	0.99989	0.9998	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12561	330587	19	8651562	A	G	349596	Benign	Weill-Marchesani_syndrome|not_provided	0.21728	0.20834	0.1847	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12562	330610	19	8669931	G	C	344604	Benign	Weill-Marchesani_syndrome|Weill-Marchesani_syn...	0.7817	0.7994	0.89397	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12563	770806	19	10084460	A	G	705381	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12564	180725	19	10218030	C	T	178886	association	Cataplexy_and_narcolepsy	.	.	0.66554	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12565	180727	19	10222195	A	G	178887	association	Cataplexy_and_narcolepsy	.	.	0.6224	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12566	180728	19	10226052	G	A	178888	association	Cataplexy_and_narcolepsy	.	.	0.65555	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12567	180730	19	10227010	A	G	178889	association	Cataplexy_and_narcolepsy	.	.	0.64317	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12568	680553	19	10253184	A	G	669651	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12569	681295	19	10257245	G	A	669394	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12570	257538	19	10265248	T	C	256731	Benign	not_specified|Dementia,_Deafness,_and_Sensory_...	0.48824	0.51797	0.53335	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12571	257537	19	10265312	T	C	256732	Benign	not_specified|Dementia,_Deafness,_and_Sensory_...	0.9897	.	0.99581	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12572	257536	19	10267077	T	C	256733	Benign	not_specified|Dementia,_Deafness,_and_Sensory_...	0.49116	0.51876	0.53395	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12573	327914	19	10270746	GAA	GA,G	332327	Benign	Dementia,_Deafness,_and_Sensory_Neuropathy	.	.	.	1|2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12574	137133	19	10273372	T	C	140836	Benign	not_specified|Dementia,_Deafness,_and_Sensory_...	0.08627	0.13196	0.19828	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12575	679319	19	10279189	T	C	669428	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12576	679318	19	10284778	A	G	669912	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12577	506085	19	10334663	T	G	497508	Benign	not_specified	0.6327	.	0.55192	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12578	380038	19	10426422	A	C	377003	Benign	not_specified	0.46875	0.56755	0.49281	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12579	380037	19	10426628	T	C	379161	Benign	not_specified	0.51362	0.48937	0.49281	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12580	673301	19	10463480	C	G	668546	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12581	673300	19	10464687	A	G	668547	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12582	677727	19	10467565	C	T	669437	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12583	137868	19	10468668	C	G	141571	Benign/Likely_benign	not_specified|Familial_Atypical_Mycobacteriosi...	0.12312	0.12195	0.09645	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12584	259041	19	10472933	A	G	256741	Benign	not_specified|Familial_Atypical_Mycobacteriosi...	0.52645	0.50821	0.53315	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12585	137865	19	10473138	A	G	141568	Benign	not_specified|Familial_Atypical_Mycobacteriosi...	0.27305	0.32171	0.32987	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12586	673299	19	10473392	G	A	669946	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12587	677150	19	10473570	T	G	669654	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12588	137864	19	10475649	C	T	141567	Benign/Likely_benign	not_specified|Familial_Atypical_Mycobacteriosi...	0.05774	0.06402	0.04373	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12589	259040	19	10475652	C	A	256742	Benign	not_specified|Familial_Atypical_Mycobacteriosi...	0.22459	0.27684	0.26578	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12590	327965	19	10490402	A	G	342535	Benign	Familial_Atypical_Mycobacteriosis,_Autosomal_R...	.	.	0.17871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12591	256866	19	10883126	C	G	256744	Benign	not_specified	0.56635	0.55278	0.55711	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12592	210855	19	10887762	G	GCCTCTGA	208503	Likely_benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12593	679311	19	10897613	G	A	669952	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12594	679312	19	10904689	G	C	669670	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12595	676520	19	11129600	C	T	668593	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12596	676521	19	11134090	A	G	669691	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12597	226710	19	11221454	T	C	230979	Conflicting_interpretations_of_pathogenicity	Familial_hypercholesterolemia_1|not_specified|...	.	0.99993	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12598	251997	19	11227554	C	T	246298	Benign/Likely_benign	Familial_hypercholesterolemia_1|not_specified	0.11103	0.11584	0.08886	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12599	36460	19	11231203	G	A	45123	Conflicting_interpretations_of_pathogenicity	Familial_hypercholesterolemia|Familial_hyperch...	0.009	0.00694	0.0028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12600	252262	19	11233941	A	G	246555	Benign/Likely_benign	Familial_hypercholesterolemia_1|not_specified	0.73874	0.77621	0.78015	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12601	252277	19	11238548	A	G	246570	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.85663	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12602	265907	19	11238807	C	T	260662	Benign	Familial_hypercholesterolemia_1	0.22044	0.24761	0.23183	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12603	265908	19	11241877	G	A	260663	Benign	Familial_hypercholesterolemia_1	0.22208	.	0.23403	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12604	265910	19	11242044	G	A	260665	Benign/Likely_benign	Familial_hypercholesterolemia_1	0.217	0.24639	0.23363	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12605	328058	19	11242307	G	C	332460	Likely_benign	Familial_hypercholesterolemia_1	.	0.84243	0.752	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12606	328064	19	11242496	G	A	349296	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.3115	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12607	328070	19	11242658	T	C	348008	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.63718	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12608	328072	19	11242765	A	G	332467	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.23443	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12609	328086	19	11243160	G	A	349320	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.23443	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12610	328089	19	11243223	TCTA	T	349323	Likely_benign	Familial_hypercholesterolemia_1	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12611	328091	19	11243254	T	C	332482	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.80092	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12612	328095	19	11243328	C	G	342679	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.23423	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12613	328097	19	11243346	T	C	348015	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.16374	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12614	328099	19	11243368	T	C	348025	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.23423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12615	328101	19	11243422	C	T	349330	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.11042	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12616	328102	19	11243445	A	G	349331	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.25938	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12617	328103	19	11243502	T	C	342685	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.23423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12618	328104	19	11243592	G	T	332486	Likely_benign	Familial_hypercholesterolemia_1	.	.	0.23423	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12619	328122	19	11244187	TTA	T	342698	Likely_benign	Familial_hypercholesterolemia_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12620	518283	19	11319491	G	A	508908	Benign	Adams-Oliver_syndrome_2	0.48953	0.53865	0.44169	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12621	518285	19	11326119	A	G	508910	Benign	Adams-Oliver_syndrome_2	0.57521	.	0.5008	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12622	518286	19	11326125	C	T	508911	Benign	Adams-Oliver_syndrome_2	0.52773	0.55647	0.45268	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12623	518287	19	11327571	C	T	508912	Benign	Adams-Oliver_syndrome_2	0.36592	0.40351	0.27836	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12624	518288	19	11327608	T	C	508913	Benign	Adams-Oliver_syndrome_2	0.68043	.	0.59345	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12625	518289	19	11327626	A	G	508914	Benign	Adams-Oliver_syndrome_2	0.66325	0.64357	0.57947	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12626	518290	19	11332570	T	A	508915	Benign	Adams-Oliver_syndrome_2	0.28553	.	0.3135	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12627	261359	19	11358799	G	A	256758	Benign	Adams-Oliver_syndrome_2|not_specified	0.5524	0.6466	0.51957	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12628	261356	19	11363146	A	T	256759	Benign	Adams-Oliver_syndrome_2|not_specified	0.60784	0.69664	0.59125	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12629	262567	19	11541712	T	C	257300	Benign	not_specified	0.93655	0.96342	0.91234	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12630	94078	19	11558240	T	C	99980	Benign	Polycystic_liver_disease_1|not_specified	0.99231	0.9922	0.99461	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12631	94080	19	11558340	AGAGGAG	A,AGAG	99982	Benign	not_specified	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12632	684380	19	12760511	T	C	670033	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12633	684379	19	12760664	T	C	669713	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12634	684378	19	12762783	T	C	669716	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12635	684376	19	12763432	A	C	668607	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12636	684375	19	12766370	G	A	669539	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12637	558861	19	12768391	G	A	549786	Benign	not_provided	0.54405	0.53105	0.36781	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12638	684373	19	12771823	A	G	670038	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12639	93207	19	12772090	C	T	99114	Benign	Deficiency_of_alpha-mannosidase|not_specified|...	0.36983	.	0.2484	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12640	93218	19	12772165	G	A	99125	Benign	Deficiency_of_alpha-mannosidase|not_specified|...	0.45356	.	0.32788	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12641	684372	19	12772263	T	C	669718	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12642	93217	19	12774208	G	C	99124	Benign	Deficiency_of_alpha-mannosidase|not_specified|...	0.31855	0.25665	0.23942	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12643	684371	19	12774862	G	A	669722	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12644	260001	19	12996740	A	G	256779	Benign	Congenital_dyserythropoietic_anemia|not_specified	0.27049	0.43921	0.44429	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12645	208504	19	13010520	A	G	205029	Benign	Glutaric_acidemia|Glutaric_aciduria,_type_1	0.63889	0.61302	0.72045	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12646	668052	19	13319314	C	G	669540	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12647	668051	19	13321122	A	C	668613	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12648	388018	19	13322955	G	T	379328	Benign/Likely_benign	History_of_neurodevelopmental_disorder|not_spe...	0.00064	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12649	678196	19	13324818	G	A	669548	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12650	678195	19	13324862	C	T	669549	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12651	668050	19	13325733	C	T	669747	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12652	678193	19	13335432	G	A	668623	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12653	668778	19	13337966	G	A	669756	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12654	678182	19	13345526	G	A	668641	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12655	678179	19	13356150	T	G	669789	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12656	680063	19	13386860	C	T	668657	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12657	680060	19	13394337	A	G	668658	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12658	680059	19	13395726	C	T	669571	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12659	680058	19	13397945	T	C	668661	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12660	680057	19	13410235	G	T	669792	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12661	680056	19	13410379	G	A	669579	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12662	257510	19	13411482	G	A	256786	Benign	not_specified	0.64523	0.74909	0.73922	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12663	680055	19	13418707	C	T	670110	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12664	668029	19	13444874	C	T	668686	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12665	668028	19	13444891	C	G	670125	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12666	678170	19	13445144	C	T	669844	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12667	93559	19	13445208	C	T	99464	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.6437	0.68568	0.64117	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12668	668027	19	13445573	G	A	668687	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12669	678169	19	13446966	T	C	669849	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12670	678168	19	13616693	C	T	668704	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12671	128619	19	14038791	C	T	134068	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.19352	0.21038	0.125	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12672	156715	19	14877799	G	C	166575	not_provided	not_provided	0.31875	0.22187	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12673	328357	19	15270583	G	A	332715	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	.	.	0.6238	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12674	328360	19	15270665	C	T	349437	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	.	.	0.6238	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12675	328361	19	15270805	C	A	342885	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	.	.	0.6234	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12676	328363	19	15270910	A	G	332719	Likely_benign	Cerebral_autosomal_dominant_arteriopathy_with_...	.	.	0.01098	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12677	256152	19	15271771	G	A	256792	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	0.7349	0.75907	0.62939	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12678	811011	19	15273248	A	C	800100	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12679	256145	19	15273381	A	G	256798	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	0.92327	.	0.86901	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12680	811010	19	15276143	C	T	800101	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12681	256141	19	15276919	G	A	256802	Benign	not_specified	0.92219	0.87172	0.86661	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12682	811008	19	15276923	C	T	800102	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12683	256140	19	15278057	A	G	256803	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	0.92365	0.87407	0.87001	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12684	811007	19	15281386	C	A	800103	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12685	256138	19	15285052	T	C	256805	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	0.92614	0.88124	0.87181	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12686	811005	19	15289613	A	T	800107	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12687	811006	19	15290125	G	A	800109	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12688	811009	19	15292366	C	T	800112	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12689	256130	19	15292437	T	C	256812	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	0.79049	0.80193	0.73902	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12690	256129	19	15295134	G	A	256813	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	0.56643	0.64274	0.51997	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12691	256120	19	15299051	G	A	256822	Benign/Likely_benign	Cerebral_autosomal_dominant_arteriopathy_with_...	0.01554	0.02072	0.00359	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12692	256118	19	15300069	T	C	256823	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	0.88905	0.85723	0.85423	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12693	256117	19	15300136	A	G	256824	Benign/Likely_benign	Cerebral_autosomal_dominant_arteriopathy_with_...	0.03152	0.02557	0.01518	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12694	256148	19	15302844	T	C	256825	Benign	Cerebral_autosomal_dominant_arteriopathy_with_...	0.88928	0.85812	0.85583	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12695	328441	19	15651539	GCC	G	348283	Benign	Congenital_ichthyosiform_erythroderma	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12696	328452	19	15662465	T	G	342948	Benign	Congenital_ichthyosiform_erythroderma	.	.	0.83027	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12697	328454	19	15662544	C	A	348301	Benign	Congenital_ichthyosiform_erythroderma	.	.	0.51218	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12698	328458	19	15662732	C	A	349507	Benign	Congenital_ichthyosiform_erythroderma	.	.	0.41574	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12699	770460	19	15905468	T	G	704825	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12700	770462	19	15918500	G	A	704830	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12701	225969	19	15990431	C	T	227800	drug_response	warfarin_response_-_Other|acenocoumarol_respon...	0.22543	0.27258	0.23682	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12702	496549	19	16591464	G	A	487993	Benign	Familial_hypertrophic_cardiomyopathy_19|not_sp...	0.65393	.	0.65056	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12703	496548	19	16593573	G	A	488044	Benign	Familial_hypertrophic_cardiomyopathy_19|not_sp...	0.16977	0.14915	0.14457	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12704	496547	19	16601168	G	A	487994	Benign	Familial_hypertrophic_cardiomyopathy_19|not_pr...	0.12956	0.12206	0.11402	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12705	496546	19	16601194	C	T	487995	Benign	Familial_hypertrophic_cardiomyopathy_19|not_sp...	0.668	0.70145	0.65895	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12706	669942	19	17450578	C	T	668721	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12707	672549	19	17451599	T	C	669873	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12708	137601	19	17952185	G	T	141304	Benign	not_specified|Severe_Combined_Immune_Deficiency	0.11899	0.16158	0.11382	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12709	256199	19	18001686	G	A	256834	Benign/Likely_benign	Thyroid_dyshormonogenesis_1|not_specified|Thyr...	0.19852	0.1795	0.1246	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12710	328548	19	18004912	T	C	349547	Likely_benign	Thyroid_Hormonogenesis_Defect	.	.	0.15196	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12711	328572	19	18170384	G	A	343055	Benign	Familial_Atypical_Mycobacteriosis,_Autosomal_R...	0.28485	0.30902	0.1863	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12712	328587	19	18180413	C	G	332869	Benign	not_specified|Familial_Atypical_Mycobacteriosi...	0.27264	.	0.2516	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12713	328588	19	18180451	A	G	348404	Benign	not_specified|Familial_Atypical_Mycobacteriosi...	0.29341	0.28942	0.26857	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12714	328596	19	18186575	G	A	348413	Benign	not_specified|Familial_Atypical_Mycobacteriosi...	0.25404	.	0.22983	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12715	328597	19	18186618	T	C	343076	Benign/Likely_benign	Disseminated_atypical_mycobacterial_infection|...	0.25319	0.27713	0.22943	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12716	328599	19	18191664	C	G	348415	Benign	not_specified|Familial_Atypical_Mycobacteriosi...	0.09496	0.11854	0.12999	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12717	497079	19	18272190	A	C	488503	Benign	not_specified	.	0.89606	0.92392	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12718	803546	19	18273047	T	C	791917	Benign	Megalencephaly-polymicrogyria-polydactyly-hydr...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12719	518294	19	18279638	T	C	508919	Benign	Megalencephaly-polymicrogyria-polydactyly-hydr...	0.85107	0.88	0.86242	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12720	468323	19	18280096	G	A	469943	Benign	Megalencephaly-polymicrogyria-polydactyly-hydr...	0.03669	0.04359	0.01957	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12721	255121	19	18895218	G	A	256838	Benign	not_specified	0.29239	0.27195	0.19868	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12722	255119	19	18895865	C	T	256840	Benign/Likely_benign	Pseudoachondroplastic_spondyloepiphyseal_dyspl...	0.05313	0.04955	0.01957	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12723	255118	19	18901618	C	G	256843	Benign	not_specified	0.14943	0.1223	0.11442	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12724	328635	19	19303185	G	A	332938	Likely_benign	MHC_Class_II_Deficiency	.	.	0.0631	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12725	328642	19	19307797	C	T	332953	Conflicting_interpretations_of_pathogenicity	not_specified|MHC_Class_II_Deficiency	0.04559	0.05227	0.02875	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12726	328657	19	30190101	G	T	348470	Likely_benign	Neurodegeneration_with_brain_iron_accumulation_4	.	.	0.10124	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12727	328672	19	30190522	A	AC	349599	Benign	Neurodegeneration_with_brain_iron_accumulation_4	.	0.68935	0.66494	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12728	328674	19	30190658	A	G	332984	Benign	Neurodegeneration_with_brain_iron_accumulation_4	.	0.69413	0.6871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12729	328692	19	30191933	A	G	333006	Benign	Neurodegeneration_with_brain_iron_accumulation_4	.	0.69597	0.70967	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12730	328706	19	30192474	C	T	349620	Likely_benign	Neurodegeneration_with_brain_iron_accumulation_4	.	0.13605	0.10144	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12731	328712	19	30192599	G	T	348512	Benign	Neurodegeneration_with_brain_iron_accumulation_4	.	0.55466	0.61761	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12732	328714	19	30192738	C	T	349622	Benign	Neurodegeneration_with_brain_iron_accumulation_4	.	0.67666	0.61861	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12733	128537	19	30193721	G	A	133985	Benign	Neurodegeneration_with_brain_iron_accumulation...	0.75204	0.667	0.61382	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12734	328740	19	33321447	A	G	333045	Likely_benign	Cystinuria	.	.	0.17492	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12735	328747	19	33333155	G	A	333057	Likely_benign	Cystinuria	0.23451	0.20587	0.2482	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12736	328754	19	33353041	G	A	349637	Likely_benign	Cystinuria	0.32977	0.29728	0.27816	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12737	328755	19	33353061	G	T	333073	Benign/Likely_benign	Cystinuria	0.32969	0.29711	0.27816	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12738	328756	19	33353357	C	T	343180	Likely_benign	Cystinuria	0.10495	0.10641	0.07228	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12739	328759	19	33353464	G	A	333077	Likely_benign	Cystinuria	0.33369	0.3005	0.27995	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12740	328760	19	33354992	A	G	349639	Likely_benign	Cystinuria	0.11264	0.11302	0.08087	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12741	328761	19	33355055	A	G	343185	Likely_benign	Cystinuria	0.35714	0.30983	0.30611	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12742	328762	19	33355069	A	G	348553	Likely_benign	Cystinuria	0.10526	.	0.07228	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12743	328763	19	33355081	G	A	333082	Likely_benign	Cystinuria	0.23074	0.19417	0.21146	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12744	328774	19	33360652	A	T	333089	Benign	Cystinuria	.	.	0.53974	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12745	328776	19	33877912	G	GAAAGT	343197	Benign	Prolidase_deficiency	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12746	328777	19	33878039	A	G	343199	Benign	Prolidase_deficiency	.	.	0.28135	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12747	328781	19	33878198	A	G	348563	Benign	Prolidase_deficiency	0.29037	.	0.25839	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12748	328791	19	33878837	G	A	348567	Benign	Prolidase_deficiency|not_specified	0.29009	0.33656	0.27836	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12749	328799	19	33882222	G	A	343220	Benign	Prolidase_deficiency|not_specified	0.1057	0.14844	0.09844	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12750	683808	19	35523119	T	A	669637	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12751	673876	19	35524266	CT	C	669657	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12752	138998	19	35524824	T	C	142701	Benign	not_specified|not_provided	0.4214	0.42618	0.3776	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12753	683809	19	35525253	T	C	668731	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12754	683811	19	35525322	A	C	669661	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12755	259500	19	36342212	C	T	256879	Benign/Likely_benign	Finnish_congenital_nephrotic_syndrome|not_spec...	0.2332	.	0.29193	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12756	193150	19	36486445	G	C	190315	Benign	not_specified	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12757	227091	19	36497358	C	G	231000	Benign	not_specified	0.96394	0.92738	0.91274	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12758	137909	19	36549690	C	T	141612	Benign/Likely_benign	Primary_autosomal_recessive_microcephaly_2|not...	0.15354	.	0.1256	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12759	670276	19	36558113	T	C	668738	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12760	670277	19	36562292	G	A	668739	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12761	670861	19	36564653	C	T	670181	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12762	670278	19	36574361	A	G	668743	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12763	160252	19	36575645	G	A	169493	Benign/Likely_benign	Primary_autosomal_recessive_microcephaly_2|not...	0.15354	.	0.125	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12764	160254	19	36577550	G	A	169494	Benign	not_specified|not_provided	0.06561	0.09145	0.05651	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12765	670280	19	36581987	T	C	670185	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12766	667588	19	36582668	C	G	669682	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12767	160265	19	36584904	C	T	169504	Benign	not_specified|not_provided	0.15439	0.17886	0.125	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12768	160269	19	36590329	T	C	169508	Benign/Likely_benign	Primary_autosomal_recessive_microcephaly_2|not...	0.67346	0.64256	0.65415	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12769	677466	19	36590692	G	A	669710	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12770	160301	19	36595436	A	C	169537	Benign	Primary_autosomal_recessive_microcephaly_2|not...	0.74904	0.74279	0.71625	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12771	789119	19	37368535	G	C	716399	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12772	677199	19	38375666	C	T	656528	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12773	677198	19	38376103	A	G	656529	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12774	677197	19	38376485	T	A	656530	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12775	677196	19	38377564	T	C	656532	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12776	677195	19	38378539	G	C	656535	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12777	677194	19	38379446	C	T	656537	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12778	677193	19	38382328	C	T	656538	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12779	677192	19	38384421	C	G	656540	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12780	677235	19	38573139	G	T	656542	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12781	677211	19	38652993	C	T	656547	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12782	133131	19	38924814	T	C	136878	Benign	not_provided	.	.	0.80691	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12783	93277	19	38935280	A	G	99184	Benign/Likely_benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.60303	0.6074	0.54333	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12784	256531	19	38935350	T	TC	256905	Likely_benign	not_specified|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12785	680756	19	38936836	C	T	670195	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12786	93243	19	38939408	T	C	99150	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.8952	.	0.90395	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12787	133008	19	38939505	T	C	136756	Benign	not_provided	0.98267	0.98324	0.99461	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12788	669161	19	38942714	G	A	669746	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12789	133064	19	38943728	G	A	136812	Benign	not_provided	.	.	0.57228	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12790	669164	19	38945640	A	G	668796	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12791	133065	19	38945851	T	C	136813	Benign	not_specified|not_provided	0.89236	0.87995	0.90196	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12792	93258	19	38946182	G	A	99165	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.63209	0.63656	0.57129	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12793	133107	19	38946215	G	C	136854	Benign	not_specified|not_provided	0.63286	.	0.57189	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12794	133110	19	38948356	T	C	136857	Benign	not_provided	.	.	0.58387	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12795	680757	19	38949505	C	T	670217	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12796	133113	19	38949729	T	G	136860	Benign	not_provided	.	.	0.55511	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12797	93259	19	38949904	C	T	99166	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.61702	0.62113	0.55411	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12798	133115	19	38950947	C	T	136862	Benign	not_provided	.	.	0.55371	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12799	669171	19	38953996	A	G	668799	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12800	93261	19	38956803	G	A	99168	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.59709	0.59619	0.54553	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12801	93284	19	38990336	C	T	99191	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.05675	0.07188	0.08446	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12802	93285	19	38990345	C	T	99192	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.09378	.	0.12181	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12803	93286	19	38990676	C	A	99193	Benign	not_specified|not_provided	0.05644	0.06945	0.08466	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12804	93289	19	38991640	C	G	99196	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.22105	0.22205	0.26038	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12805	93292	19	38993372	A	G	99199	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.31398	0.33658	0.42193	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12806	93294	19	38993547	C	T	99201	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.15785	0.18208	0.23782	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12807	133216	19	38993638	A	G	136963	Benign	not_specified|not_provided	0.33108	0.33899	0.42891	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12808	93296	19	38994910	G	A	99203	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.31955	0.3261	0.41234	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12809	669218	19	38995152	G	A	669807	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12810	669220	19	38995233	A	G	669810	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12811	256570	19	38995355	ACCT	A	257017	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12812	93297	19	38995438	T	C	99204	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.31977	0.32643	0.41514	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12813	93298	19	38995510	T	C	99205	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.32362	0.32942	0.41713	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12814	93299	19	38995975	G	A	99206	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.30821	0.32941	0.40595	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12815	133224	19	38996066	A	G	136969	Benign	not_specified|not_provided	0.29257	0.33911	0.40595	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12816	133227	19	38996620	C	T	136972	Benign	not_specified|not_provided	0.28852	0.31855	0.40595	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12817	133228	19	38996623	T	G	136973	Benign	not_specified|not_provided	0.25741	.	0.40575	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12818	133229	19	38996640	A	G	136974	Benign	not_provided	.	.	0.40595	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12819	669227	19	38996821	A	C	670245	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12820	93300	19	38996990	T	C	99207	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.31362	0.32646	0.40815	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12821	133231	19	38997076	C	T	136976	Benign	not_specified|not_provided	0.30963	0.32353	0.40615	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12822	133233	19	38997214	T	G	136978	Benign	not_specified|not_provided	0.30878	.	0.40615	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12823	590617	19	38997323	T	C	581559	Benign	not_specified|not_provided	.	.	0.40615	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12824	93302	19	38997459	G	C	99209	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.30863	0.32427	0.40615	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12825	93303	19	38997609	T	A	99210	Benign	not_specified|not_provided	0.30721	0.32195	0.40495	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12826	133235	19	38997635	A	C	136980	Benign	not_specified|not_provided	0.30534	0.32077	0.40595	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12827	133236	19	38997679	G	T	136981	Benign	not_provided	.	.	0.40555	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12828	669247	19	38997763	C	A	668819	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12829	680760	19	38997896	C	T	669815	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12830	256576	19	38998497	G	GC	257022	Benign	not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12831	93306	19	39002725	A	G	99213	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.31086	0.3251	0.40695	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12832	93239	19	39010023	C	T	99146	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.03731	0.0562	0.02975	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12833	132998	19	39017378	T	C	136746	Benign	not_provided	.	.	0.34984	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12834	93242	19	39018280	C	T	99149	Benign/Likely_benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.12287	0.07288	0.1242	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12835	133000	19	39018728	C	G	136748	not_provided	not_provided	.	0.33136	0.26797	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12836	256396	19	39019222	A	G	257045	Benign/Likely_benign	not_specified|not_provided	0.00246	0.00445	0.0014	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12837	669253	19	39028759	T	C	668826	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12838	256413	19	39034322	G	A	257060	Benign	not_specified	0.04882	0.05035	0.04553	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12839	133039	19	39053691	T	C	136787	not_provided	not_provided	.	.	0.40535	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12840	680798	19	39055343	C	T	669976	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12841	93251	19	39056291	C	T	99158	Benign/Likely_benign	Malignant_hyperthermia_susceptibility|Myopathy...	.	0.10451	0.03235	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12842	93253	19	39061258	C	G	99160	Benign	Malignant_hyperthermia_susceptibility|Myopathy...	0.03691	0.04604	0.03355	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12843	256455	19	39077253	G	T	257097	Benign	not_specified|not_provided	0.06151	0.06244	0.02756	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12844	259582	19	39196745	C	T	257104	Benign	Focal_segmental_glomerulosclerosis_1|not_speci...	0.39236	0.41049	0.33926	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12845	559111	19	39307103	C	T	549789	Benign	not_provided	0.08219	0.09918	0.07588	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12846	559115	19	39322087	T	G	549793	Benign	not_provided	0.45095	0.47271	0.36502	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12847	329207	19	39406167	C	G	349792	Likely_benign	Hyperuricemia,_pulmonary_hypertension,_renal_f...	.	0.44472	0.55072	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12848	683699	19	39408086	T	C	669847	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12849	329212	19	39408360	A	G	348834	Benign	Hyperuricemia,_pulmonary_hypertension,_renal_f...	0.70521	0.70661	0.83467	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12850	683696	19	39410119	A	G	669850	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12851	683694	19	39410986	C	G	668849	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12852	670037	19	39413162	C	T	668850	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12853	329227	19	39421388	A	G	348839	Benign	Hyperuricemia,_pulmonary_hypertension,_renal_f...	0.71381	0.71211	0.84205	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12854	769454	19	39760435	T	C	704975	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12855	41379	19	39994711	T	C	49803	Benign	Syndactyly|Jarcho-Levin_syndrome|Spondylocosta...	0.59011	0.56864	0.62999	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12856	130053	19	40900865	C	T	135499	Benign	Charcot-Marie-Tooth_disease_type_4|not_specifi...	0.95379	0.94692	0.96546	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12857	130052	19	40901011	G	C	135498	Benign/Likely_benign	Charcot-Marie-Tooth_disease,_demyelinating,_ty...	0.13317	.	0.09924	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12858	130050	19	40901496	T	C	135496	Benign	Charcot-Marie-Tooth_disease,_demyelinating,_ty...	0.36629	0.35044	0.29673	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12859	130049	19	40901604	A	G	135495	Benign	Charcot-Marie-Tooth_disease,_demyelinating,_ty...	0.6091	0.50704	0.53195	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12860	130048	19	40901614	A	G	135494	Benign	Charcot-Marie-Tooth_disease_type_4|not_specifi...	0.60972	0.50685	0.53195	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12861	130051	19	40904602	G	A	135497	Benign/Likely_benign	Charcot-Marie-Tooth_disease,_demyelinating,_ty...	0.13455	0.14547	0.10224	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12862	680722	19	40913539	C	T	668856	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12863	678506	19	41107205	G	C	670267	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12864	678507	19	41107208	A	C	670270	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12865	163945	19	41111069	G	A	176729	Benign	Cutis_laxa_with_severe_pulmonary,_gastrointest...	0.51969	0.49942	0.52436	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12866	677985	19	41112547	G	C	670278	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12867	683627	19	41116166	C	G	670279	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12868	163946	19	41117869	A	G	176593	Benign	Cutis_laxa_with_severe_pulmonary,_gastrointest...	0.46896	0.44795	0.49521	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12869	178781	19	41118056	A	G	176731	Benign	Cutis_laxa_with_severe_pulmonary,_gastrointest...	0.4674	0.45898	0.49501	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12870	163947	19	41119829	C	T	176594	Benign/Likely_benign	Cutis_laxa_with_severe_pulmonary,_gastrointest...	0.0748	.	0.04812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12871	683628	19	41122496	A	G	668872	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12872	683623	19	41124931	C	T	668875	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12873	178782	19	41128309	C	T	176026	Benign	Cutis_laxa_with_severe_pulmonary,_gastrointest...	0.37056	0.53767	0.41713	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12874	163950	19	41129842	C	T	176027	Benign	Cutis_laxa_with_severe_pulmonary,_gastrointest...	0.51184	0.43887	0.51877	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12875	678606	19	41133870	T	C	669888	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12876	384699	19	41135283	G	C	377666	Benign	not_specified	0.15616	.	0.13678	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12877	683204	19	41198482	T	C	668881	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12878	380101	19	41206060	G	C	376538	Benign	not_specified|not_provided	0.03791	0.03345	0.01318	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12879	379941	19	41206208	A	G	376545	Benign	not_specified|not_provided	0.57912	0.52602	0.53754	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12880	380045	19	41220529	C	T	376552	Benign	not_specified|not_provided	0.17146	0.15128	0.09924	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12881	768996	19	41386420	A	C	705005	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12882	226002	19	41512792	C	T	227803	drug_response	efavirenz_response_-_Metabolism/PK	0.23943	0.33528	0.28914	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12883	29671	19	41512841	G	T	38626	drug_response	Efavirenz_response|efavirenz_response_-_Dosage...	0.2904	.	0.3157	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12884	120171	19	41515263	A	G	125779	drug_response	Efavirenz_response|efavirenz_response_-_Metabo...	.	0.05632	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12885	375661	19	41515702	T	C	362510	drug_response	efavirenz_response_-_Metabolism/PK	.	.	0.73482	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12886	12534	19	41858921	G	A	27573	Benign	Breast_cancer,_invasive,_susceptibility_to|Dia...	.	.	0.54533	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12887	39302	19	41860296	A	G	47908	Benign	Diaphyseal_dysplasia	.	.	0.63199	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12888	261879	19	41860587	C	T	257134	Benign/Likely_benign	Meckel-Gruber_syndrome|not_specified	0.06359	0.06357	0.04133	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12889	261881	19	41869392	T	C	257138	Benign	Meckel-Gruber_syndrome|Meckel_syndrome,_type_1...	0.72451	0.65496	0.64956	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12890	680489	19	41903421	A	T	670293	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12891	93334	19	41903699	T	G	99241	Likely_benign	Maple_syrup_urine_disease|not_specified	0.10718	0.1172	0.08247	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12892	680490	19	41904165	C	T	669927	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12893	93341	19	41916549	C	A	99248	Benign/Likely_benign	Maple_syrup_urine_disease|not_specified|not_pr...	0.09803	.	0.05531	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12894	93357	19	41919944	A	C	99264	Benign	Maple_syrup_urine_disease|not_specified	0.6761	0.59895	0.61601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12895	676107	19	41920211	T	C	670294	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12896	93382	19	41928652	C	T	99289	Benign	Maple_syrup_urine_disease|not_specified	0.67607	0.59935	0.61641	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12897	93386	19	41928701	C	T	99293	Benign/Likely_benign	not_specified|not_provided	0.38244	0.3722	0.25739	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12898	93387	19	41928724	G	A	99294	Benign/Likely_benign	not_specified	0.64347	0.58956	0.58566	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12899	93389	19	41928867	G	GC	99296	Benign/Likely_benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12900	680491	19	41929251	T	C	670031	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12901	93343	19	41930396	A	G	99250	Benign	Maple_syrup_urine_disease|not_specified	0.677	0.59997	0.61701	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12902	440244	19	42364395	T	C	433895	Benign	not_specified	.	.	0.57328	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12903	138927	19	42373298	G	A	142630	Benign	Diamond-Blackfan_anemia|not_specified	0.55468	.	0.55871	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12904	329400	19	42471050	G	C	349040	Benign	Alternating_hemiplegia_of_childhood|Dystonia_12	0.71168	0.63742	0.71945	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12905	329409	19	42482076	T	A	349042	Likely_benign	Alternating_hemiplegia_of_childhood|Dystonia_12	0.00177	0.00345	0.00379	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12906	157926	19	42489516	A	C	167773	Benign/Likely_benign	Alternating_hemiplegia_of_childhood|Dystonia_1...	0.92973	.	0.90156	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12907	769011	19	43420451	G	C	705065	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12908	769013	19	43679410	A	G	705071	Likely_benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12909	769014	19	43699336	T	C	705072	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12910	683858	19	44013260	G	A	670042	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12911	683856	19	44030998	C	T	668887	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12912	260385	19	44031324	C	T	257139	Benign	Ethylmalonic_encephalopathy|not_specified|not_...	0.14891	0.19066	0.15236	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12913	225976	19	44055726	T	C	227806	drug_response	Platinum_compounds_response_-_Efficacy|cisplat...	0.70921	0.6834	0.73962	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12914	257226	19	45213752	C	T	257140	Benign	not_specified	0.03914	0.04598	0.03494	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12915	439	19	45322744	A	G	15478	Benign	AUBERGER_BLOOD_GROUP_POLYMORPHISM_Au(a)/Au(b)	.	0.27533	0.27037	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12916	329465	19	45682026	A	C	333754	Likely_benign	Hermansky-Pudlak_syndrome	.	.	0.04653	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12917	329481	19	45683448	T	A	349968	Likely_benign	Hermansky-Pudlak_syndrome	.	.	0.0629	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12918	329487	19	45684109	C	T	333794	Likely_benign	Hermansky-Pudlak_syndrome	.	.	0.04653	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12919	134105	19	45854919	T	G	137844	Benign	Osteosarcoma|Non-small_cell_lung_cancer|Xerode...	0.326	.	0.23662	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12920	256018	19	45855524	G	A	257142	Benign	Xeroderma_pigmentosum|not_specified	0.25873	0.28591	0.18231	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12921	256016	19	45856468	G	C	257143	Benign	not_specified	0.67846	.	0.63439	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12922	135529	19	45865002	C	A	139268	not_provided	not_specified	.	0.64019	0.63299	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12923	134117	19	45867259	C	T	137856	Benign	Xeroderma_pigmentosum|Xeroderma_pigmentosum,_g...	0.24385	0.37882	0.19449	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12924	256021	19	45868309	T	G	257148	Benign	Xeroderma_pigmentosum|not_specified	0.66254	0.58981	0.63618	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12925	256020	19	45872036	C	T	257149	Benign	not_specified	0.65687	0.59573	0.63618	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12926	225987	19	45912736	C	A	227807	drug_response	cisplatin_response_-_Toxicity/ADR|Platinum_com...	0.26124	0.32366	0.29513	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12927	225945	19	45923653	A	G	227808	drug_response	Xeroderma_pigmentosum|carboplatin_response_-_E...	0.54006	0.50847	0.66893	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12928	669143	19	45992381	T	C	670052	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12929	684130	19	46000535	T	G	670057	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12930	329553	19	46049687	T	C	349092	Likely_benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	0.01238	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12931	329556	19	46049982	A	G	349095	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	0.77536	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12932	329574	19	46050760	T	C	333835	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	0.63798	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12933	329594	19	46051915	T	A	333865	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	0.76098	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12934	329596	19	46051919	ATTT	A	349123	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12935	329609	19	46052454	A	G	349142	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	0.75839	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12936	329610	19	46052620	TCAGGG	T	333868	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12937	329617	19	46052898	C	T	333871	Likely_benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	0.15455	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12938	329624	19	46053385	C	T	349153	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	0.76018	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12939	329631	19	46053655	G	GGCT	333881	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12940	329647	19	46054822	C	T	333893	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	0.75679	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12941	329657	19	46055477	G	GT	343865	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12942	329682	19	46056620	C	T	333923	Benign	3-Methylglutaconic_aciduria_type_3|Optic_Atrop...	.	.	0.71066	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12943	21709	19	46057081	A	G	34561	Benign	3-Methylglutaconic_aciduria_type_3|Optic_atrop...	0.68256	0.70759	0.76697	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12944	262913	19	46268902	C	T	257151	Benign	Branchiootorenal_syndrome_2|not_specified	0.34366	0.32055	0.29812	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12945	678453	19	47109011	T	C	669931	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12946	678454	19	47111663	T	C	670058	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12947	137381	19	47251930	C	G	141084	Benign	not_specified	.	.	0.0605	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12948	774357	19	47425424	G	T	705107	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12949	99592	19	48337812	C	T	105481	Benign	Leber_congenital_amaurosis|not_specified|Cone-...	0.14401	0.1495	0.08846	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12950	329706	19	48343531	CAAG	C	343885	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12951	329713	19	48343803	T	C	343896	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.24221	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12952	329714	19	48343815	G	C	333943	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.27616	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12953	329716	19	48343903	G	A	333950	Likely_benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.06929	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12954	329717	19	48343906	C	T	349199	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.24301	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12955	329730	19	48344190	G	C	349205	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.27676	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12956	329733	19	48344270	C	T	343904	Likely_benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.06949	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12957	329739	19	48344513	G	A	350127	Likely_benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.06949	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12958	329741	19	48344570	G	A	343912	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.24321	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12959	329742	19	48344679	T	A	333976	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.57009	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12960	329744	19	48344874	G	GA	349209	Likely_benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12961	329748	19	48345114	TA	T	350128	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12962	329753	19	48345330	C	T	349210	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.27756	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12963	329758	19	48345407	T	C	350143	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.5641	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12964	329761	19	48345604	C	T	350150	Likely_benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.06949	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12965	329765	19	48345783	G	C	349215	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.23043	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12966	329768	19	48345928	C	T	333995	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.23023	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12967	329769	19	48345941	G	T	343926	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.23043	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12968	329777	19	48346161	T	C	349224	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.26697	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12969	329779	19	48346241	C	T	343931	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.21386	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12970	329781	19	48346503	C	T	334000	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.21386	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12971	329782	19	48346509	C	G	343933	Likely_benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.06969	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12972	329783	19	48346525	T	C	349226	Benign	Leber_congenital_amaurosis|Cone-Rod_Dystrophy,...	.	.	0.21386	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12973	262481	19	48800218	T	C	257160	Benign	not_specified	0.21873	0.21603	0.20308	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12974	262496	19	48800338	A	G	257162	Benign	not_specified	0.62256	0.5703	0.46466	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12975	262490	19	48800791	A	G	257168	Benign	not_specified	0.40133	0.35954	0.32149	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12976	262489	19	48800914	G	A	257169	Benign	not_specified	0.23235	0.28868	0.16753	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12977	262485	19	48801414	G	T	257171	Benign	not_specified	0.17861	.	0.15216	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12978	262486	19	48801426	T	C	257172	Benign	not_specified	0.39013	0.32609	0.30431	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12979	262507	19	48806977	G	A	257179	Benign	not_specified	0.17884	0.18302	0.15336	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12980	262504	19	48807367	C	A	257181	Benign	not_specified	0.17938	0.18395	0.15395	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12981	262503	19	48807401	C	T	257182	Benign	not_specified	0.2433	.	0.16813	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12982	12945	19	49206674	G	A	27984	Benign,_association	SECRETOR/NONSECRETOR_POLYMORPHISM|Vitamin_b12_...	.	0.38942	0.32169	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12983	156440	19	49469087	T	C	166213	Benign	Hyperferritinemia_cataract_syndrome|Neuroferri...	0.51953	0.49791	0.46066	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12984	676132	19	49474027	A	T	670066	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12985	681676	19	49481631	A	C	670318	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12986	676131	19	49485758	C	T	670329	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12987	260834	19	49661112	G	A	257190	Benign/Likely_benign	not_specified|Progressive_familial_heart_block	.	0.29375	0.15036	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12988	674828	19	49661582	T	C	669944	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12989	780580	19	49977929	A	G	716597	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12990	496316	19	50140068	C	T	487954	Benign	not_provided	0.69683	0.70345	0.73822	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12991	496315	19	50140092	G	A	487955	Benign	not_provided	0.69683	0.7034	0.73822	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12992	138201	19	50321587	A	G	141904	Benign	not_specified	0.01115	0.00869	0.01018	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12993	138200	19	50339548	G	A	141903	Benign	not_specified|not_provided	0.01369	0.00957	0.00998	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12994	95476	19	50365370	G	A	101375	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy|Early_infantile_epile...	0.00923	0.00721	0.00539	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12995	159801	19	50366042	G	A	169592	Benign	not_specified|not_provided	0.01561	0.03367	0.04133	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12996	667941	19	50370106	T	G	668937	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12997	95486	19	50370404	G	A	101385	Benign/Likely_benign	History_of_neurodevelopmental_disorder|Early_i...	0.009	.	0.00659	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12998	129846	19	50411742	A	G	135292	Likely_benign	not_specified	0.94726	0.94442	0.97404	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
12999	129849	19	50412217	C	G	135295	Likely_benign	not_specified	0.31625	0.35175	0.31629	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13000	129848	19	50412417	G	A	135294	Likely_benign	not_specified	0.80755	0.79186	0.86042	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13001	129847	19	50412516	C	T	135293	Likely_benign	not_specified	0.02199	0.01243	0.02177	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13002	44073	19	50720949	G	A	53241	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Domin...	0.01434	0.00971	0.01118	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13003	44079	19	50726570	G	A	53247	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.49326	0.6057	0.47284	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13004	44044	19	50735340	C	T	53212	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.32462	0.35882	0.32149	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13005	44051	19	50755955	C	T	53219	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Domin...	0.03027	0.04041	0.05112	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13006	44056	19	50762418	A	G	53224	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.7375	0.77194	0.76118	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13007	44057	19	50763889	C	T	53225	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.43545	0.44797	0.4391	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13008	44062	19	50771609	G	A	53230	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.53139	0.59804	0.48443	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13009	44063	19	50771635	T	C	53231	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.87526	0.87568	0.86462	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13010	44067	19	50779469	C	T	53235	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.18627	0.20966	0.13199	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13011	44075	19	50796905	G	A	53243	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.6146	0.74795	0.68211	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13012	257578	19	50796960	C	T	257195	Benign	not_specified	0.62566	0.74963	0.69449	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13013	226747	19	50805138	C	T	231073	Benign	not_specified|Nonsyndromic_Hearing_Loss,_Dominant	0.79466	.	0.7508	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13014	329955	19	50813169	A	C	350291	Likely_benign	Nonsyndromic_Hearing_Loss,_Dominant	.	0.36905	0.248	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13015	329958	19	50813263	T	G	349293	Benign	Nonsyndromic_Hearing_Loss,_Dominant	.	.	0.82508	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13016	380227	19	50905762	T	C	377725	Benign	Hereditary_cancer-predisposing_syndrome|not_sp...	0.12617	0.05319	0.13838	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13017	676483	19	50909389	T	G	670373	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13018	676546	19	50909405	G	A	668946	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13019	679796	19	50911847	C	A	670018	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13020	676550	19	50916571	A	G	670382	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13021	380228	19	50916772	T	C	377776	Benign	Hereditary_cancer-predisposing_syndrome|Colore...	0.10926	0.04496	0.11841	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13022	380221	19	50918969	A	G	377792	Benign	not_specified|not_provided	0.20937	0.2659	0.28215	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13023	258788	19	50919797	C	T	257197	Benign	not_specified|not_provided	0.58103	0.57934	0.40835	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13024	676551	19	50920100	T	C	670026	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13025	380229	19	50920410	C	T	379661	Benign	not_specified|not_provided	0.09353	0.07638	0.10843	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13026	371933	19	50920536	A	G	359002	Benign/Likely_benign	Colorectal_cancer_10|not_specified|not_provided	0.11514	0.05689	0.12859	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13027	676552	19	50920558	C	T	670028	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13028	560822	19	50921074	A	ACCCTGC	551952	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13029	259564	19	51411636	G	T	257199	Benign	not_specified	0.997	0.99617	0.9984	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13030	680119	19	51848824	A	G	670032	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13031	680118	19	51848834	A	G	670384	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13032	680111	19	51849927	G	C	670385	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13033	94018	19	51850290	G	A	99920	Benign	Glutaric_aciduria,_type_2|not_specified|not_pr...	0.54183	0.49803	0.41973	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13034	680110	19	51850485	T	C	668951	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13035	683851	19	51850597	T	C	670041	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13036	683849	19	51853288	C	G	670387	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13037	680108	19	51853352	A	G	670392	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13038	680106	19	51853872	G	A	668952	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13039	369289	19	51883149	T	G	353518	Likely_benign	Cortical_pulverulent_cataract	.	.	0.64397	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13040	773360	19	51919998	T	C	705210	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13041	402874	19	52249211	T	G	390308	Benign	not_specified	0.79694	0.80448	0.78714	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13042	402877	19	52249702	G	T	390462	Benign	not_specified	0.2891	0.32854	0.35104	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13043	402878	19	52249947	C	G	390432	Benign	not_specified	0.34323	.	0.39377	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13044	402879	19	52250216	A	G	390319	Benign	not_specified	0.77249	0.80533	0.83407	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13045	403625	19	52803669	CTG	C	390465	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13046	769464	19	53770261	T	C	705230	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13047	769986	19	53848779	T	C	705231	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13048	769988	19	53848837	C	T	705233	Likely_benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13049	329988	19	54296978	AC	A	350305	Benign	Familial_cold_autoinflammatory_syndrome	.	.	0.42752	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13050	262531	19	54307322	G	A	257201	Benign	Familial_cold_autoinflammatory_syndrome|not_sp...	0.48601	.	0.42672	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13051	403242	19	54308554	C	T	390434	Benign	not_specified	0.85491	0.84739	0.80631	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13052	262528	19	54327313	C	A	257206	Benign	Familial_cold_autoinflammatory_syndrome|not_sp...	0.2668	0.22944	0.25559	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13053	330052	19	54327568	A	T	350336	Benign	Familial_cold_autoinflammatory_syndrome	.	.	0.78135	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13054	130037	19	54385820	C	T	135483	Benign	Spinocerebellar_ataxia_14|not_specified|Spinoc...	0.88229	0.94629	0.89637	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13055	130036	19	54394965	T	C	135482	Benign	Spinocerebellar_ataxia_14|not_specified|Spinoc...	0.34607	.	0.32947	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13056	330063	19	54395098	G	T	334232	Benign	Spinocerebellar_ataxia_14|Spinocerebellar_Atax...	0.35161	0.39669	0.33367	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13057	167537	19	54632423	T	C	177983	Benign	not_specified|Retinitis_Pigmentosa,_Dominant	0.82555	.	0.7532	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13058	97793	19	55438831	G	T	103685	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59185	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13059	97792	19	55438850	A	G	103684	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13060	97794	19	55438940	AAAAC	A	103686	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13061	97777	19	55439371	A	G	103669	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59265	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13062	97778	19	55439455	G	T	103670	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59285	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13063	97779	19	55439472	T	C	103671	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59285	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13064	97782	19	55439537	C	A	103674	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59325	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13065	97783	19	55439542	T	C	103675	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59325	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13066	97784	19	55439545	G	A	103676	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59485	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13067	97785	19	55439639	A	G	103677	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59265	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13068	97788	19	55439821	G	T	103680	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.41693	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13069	97789	19	55439838	A	G	103681	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13070	97774	19	55440357	G	A	103666	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59245	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13071	97769	19	55441643	C	T	103661	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59066	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13072	97767	19	55441741	A	G	103659	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59006	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13073	97766	19	55441744	C	T	103658	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.59006	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13074	330156	19	55441902	T	C	334316	Benign/Likely_benign	Hydatidiform_mole,_recurrent,_1|not_specified	0.54429	0.5819	0.59006	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13075	330158	19	55441995	A	G	344252	Benign/Likely_benign	Hydatidiform_mole,_recurrent,_1|not_specified	0.54413	0.58154	0.59045	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13076	97764	19	55442280	A	C	103656	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.57668	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13077	97765	19	55442398	C	A	103657	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.67292	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13078	97763	19	55443424	A	G	103655	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.73942	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13079	97752	19	55447501	G	A	103644	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.16134	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13080	97742	19	55448961	G	A	103634	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.67792	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13081	97738	19	55449099	G	C	103630	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.41054	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13082	97728	19	55449755	G	A	103620	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.67851	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13083	287106	19	55450746	C	T	271343	Benign/Likely_benign	Hydatidiform_mole,_recurrent,_1|not_specified	0.11748	.	0.09085	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13084	330172	19	55451050	C	T	349382	Benign/Likely_benign	Hydatidiform_mole,_recurrent,_1|not_specified	0.1728	.	0.18071	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13085	330176	19	55451232	C	T	334358	Benign/Likely_benign	Hydatidiform_mole,_recurrent,_1|not_specified	0.2954	0.24098	0.28894	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13086	330183	19	55451797	C	T	334365	Benign/Likely_benign	Hydatidiform_mole,_recurrent,_1|not_specified	0.38874	0.34043	0.35543	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13087	97894	19	55453134	G	A	103786	Benign	Hydatidiform_mole,_recurrent,_1	.	0.4212	0.40555	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13088	97895	19	55453418	G	A	103787	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.19369	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13089	97896	19	55453511	C	T	103788	not_provided	Hydatidiform_mole,_recurrent,_1	.	.	0.18071	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13090	97900	19	55458801	G	A	103792	not_provided	Hydatidiform_mole,_recurrent,_1	.	0.05252	0.06929	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13091	718578	19	55495031	G	A	728399	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13092	257416	19	55525497	A	G	257209	Benign	not_specified	0.8057	0.76898	0.72664	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13093	257413	19	55525596	T	C	257212	Benign	not_specified	0.73414	0.80832	0.71665	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13094	257411	19	55525894	G	A	257214	Benign	not_specified	0.73371	0.79038	0.71765	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13095	257428	19	55526345	T	G	257216	Benign	not_specified	0.79766	0.84671	0.82308	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13096	257427	19	55526359	A	T	257217	Benign	not_specified	0.74491	0.7998	0.72484	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13097	257426	19	55526373	G	C	257218	Benign	not_specified	0.48751	0.5425	0.38459	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13098	257424	19	55527081	C	T	257220	Benign	not_specified	0.73095	0.78945	0.71346	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13099	257423	19	55530035	C	T	257221	Benign	not_specified	0.76618	.	0.74361	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13100	257422	19	55536595	G	A	257222	Benign	not_specified	0.82504	0.8139	0.84265	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13101	257421	19	55538980	T	C	257223	Benign	not_specified	0.8801	.	0.90715	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13102	257419	19	55539061	A	G	257225	Benign	not_specified	0.75024	0.79293	0.73243	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13103	257418	19	55539072	T	G	257226	Benign	not_specified	0.81792	.	0.84265	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13104	167736	19	55644325	A	C	178100	Benign	not_specified	0.99985	0.98916	0.98043	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13105	31863	19	55658088	G	A	40523	Benign/Likely_benign	not_specified|Nemaline_Myopathy,_Recessive|not...	0.10482	0.23461	0.0643	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13106	31864	19	55660499	A	G	40524	not_provided	not_provided	.	0.20573	0.19828	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13107	31855	19	55660537	T	C	40515	Benign/Likely_benign	Hypertrophic_cardiomyopathy|Familial_restricti...	.	0.83146	0.8101	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13108	36881	19	55665584	A	C	45542	Conflicting_interpretations_of_pathogenicity	Cardiomyopathy|Primary_ciliary_dyskinesia|Prim...	.	0.99997	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13109	43366	19	55667647	C	A	52536	Benign/Likely_benign	Cardiomyopathy|Hypertrophic_cardiomyopathy|Pri...	0.03682	0.04615	0.02276	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13110	369296	19	55671337	C	T	353525	Likely_benign	Hypertrophic_cardiomyopathy|Familial_restricti...	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13111	769051	19	55790886	A	AGCCGCCGCC	705259	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13112	769465	19	55895588	G	A	705264	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13113	770812	19	55912946	T	G	705266	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13114	769056	19	56739747	C	G	705276	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13115	713237	19	57325940	A	T	728424	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13116	330224	19	57742472	G	C	344295	Benign	Spermatogenic_Failure	.	.	0.86761	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13117	330225	19	57742489	C	T	349406	Benign	Spermatogenic_Failure|not_specified	.	0.76247	0.76777	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13118	769059	19	58004931	A	G	705290	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13119	769989	19	58421080	G	T	705298	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13120	286343	19	59023166	G	A	270580	Benign	not_specified	0.17159	0.24354	0.16174	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13121	286342	19	59023174	A	G	270579	Benign	not_specified	0.17113	0.25303	0.16154	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13122	402586	20	126310	ACC	A	390451	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13123	262230	20	741847	A	G	257429	Benign	not_specified|not_provided	0.70226	0.70216	0.65535	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13124	262238	20	744450	G	A	257434	Benign	not_specified	0.37521	0.43117	0.30871	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13125	262228	20	746423	GTATCTGCCC	G	257443	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13126	337814	20	1959939	G	A	344725	Benign	Spinocerebellar_Ataxia,_Dominant	.	.	0.51298	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13127	337819	20	1960198	A	G	344729	Benign	Spinocerebellar_Ataxia,_Dominant	.	.	0.51378	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13128	337822	20	1960313	A	G	344733	Likely_benign	Spinocerebellar_Ataxia,_Dominant	.	.	0.09525	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13129	337834	20	1961134	A	G	334872	Benign	Spinocerebellar_ataxia_23|Spinocerebellar_Atax...	0.173	.	0.13019	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13130	337846	20	1974858	T	C	350714	Benign	Spinocerebellar_Ataxia,_Dominant	.	.	0.628	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13131	130585	20	2375262	A	G	136031	Benign	Spinocerebellar_ataxia_35|not_specified|Spinoc...	0.93726	0.9071	0.878	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13132	337914	20	2380396	G	A	344788	Benign	Spinocerebellar_ataxia_35|Spinocerebellar_Atax...	0.61699	0.66165	0.57408	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13133	337920	20	2384151	G	A	344790	Likely_benign	Spinocerebellar_Ataxia,_Dominant	0.07589	0.0917	0.12999	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13134	130584	20	2398017	G	A	136030	Benign	Spinocerebellar_ataxia_35|not_specified|Spinoc...	0.27157	0.23451	0.32448	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13135	791662	20	2413125	CC	CT,TT	779964	Benign	not_provided	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13136	337941	20	2413320	T	C	350769	Benign	Spinocerebellar_Ataxia,_Dominant	0.43657	0.41753	0.51318	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13137	129807	20	2633936	T	C	135253	Likely_benign	not_specified	0.83431	.	0.86122	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13138	129806	20	2637071	T	C	135252	Likely_benign	not_specified	0.65085	0.63363	0.67372	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13139	129808	20	2638579	T	C	135254	Likely_benign	not_specified	0.35844	0.30984	0.377	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13140	129809	20	2638882	T	C	135255	Likely_benign	not_specified	0.33893	0.29312	0.3774	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13141	338028	20	2644407	C	G	344895	Benign	Retinitis_Pigmentosa,_Recessive	0.65331	0.68653	0.61302	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13142	771047	20	3026345	A	AGCCCC	705420	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13143	14747	20	3193893	A	C	29786	drug_response	azathioprine_response_-_Toxicity/ADR|Inosine_t...	0.1118	0.08863	0.05911	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13144	261999	20	3209083	G	A	257339	Benign/Likely_benign	not_specified|Corneal_Dystrophy,_Recessive	0.176	.	0.15915	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13145	261998	20	3209371	G	A	257340	Benign	not_specified	0.39401	0.44768	0.49421	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13146	261997	20	3210301	G	A	257341	Benign/Likely_benign	not_specified|Corneal_Dystrophy,_Recessive	0.0938	0.0916	0.04852	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13147	261996	20	3211235	C	T	257342	Benign/Likely_benign	not_specified|Corneal_Dystrophy,_Recessive	0.0908	0.08513	0.04513	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13148	261994	20	3211304	G	A	257343	Benign/Likely_benign	not_specified|Corneal_Dystrophy,_Recessive	0.10118	.	0.04792	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13149	262002	20	3214581	C	T	257345	Benign/Likely_benign	not_specified|Corneal_Dystrophy,_Recessive	0.18622	0.1574	0.16633	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13150	262001	20	3214819	T	G	257346	Benign/Likely_benign	not_specified|Corneal_Dystrophy,_Recessive	0.48093	.	0.47983	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13151	338263	20	3218355	C	G	344973	Likely_benign	Corneal_Dystrophy,_Recessive	0.43165	.	0.45028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13152	193506	20	3870079	T	A	190670	Benign	Pigmentary_pallidal_degeneration|not_specified...	0.04545	0.12172	0.08686	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13153	96526	20	3870124	G	C	102420	Benign	Pigmentary_pallidal_degeneration|not_specified...	0.93669	.	0.87919	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13154	13397	20	4680251	A	G	28436	Benign	Alzheimer_disease,_early-onset,_susceptibility...	.	0.30778	0.26657	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13155	338858	20	5283256	C	G	345515	Benign	Hypogonadism_with_anosmia|Kallmann_syndrome_3|...	0.73505	0.74352	0.72324	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13156	338859	20	5283376	G	A	345516	Benign	Hypogonadism_with_anosmia|Kallmann_syndrome_3|...	0.40927	0.39802	0.44649	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13157	339170	20	6055696	G	GT	351325	Uncertain_significance	Kindler's_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13158	339178	20	6056042	T	TA	351333	Benign	Kindler's_syndrome	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13159	260868	20	6064710	A	G	257380	Benign	Kindler's_syndrome|not_specified	0.35968	0.3683	0.39577	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13160	339209	20	6064731	C	T	336173	Benign	Kindler's_syndrome	0.15316	0.10236	0.11641	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13161	339213	20	6065729	CTT	TTC	345924	Uncertain_significance	Kindler's_syndrome	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13162	339224	20	6088265	G	A	350337	Likely_benign	Kindler's_syndrome	0.06374	0.07091	0.05112	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13163	339230	20	6093177	A	G	351350	Likely_benign	Kindler's_syndrome	0.10403	0.08318	0.08307	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13164	339234	20	6096632	G	A	351354	Likely_benign	Kindler's_syndrome	0.10841	0.08481	0.08826	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13165	260864	20	6100088	A	G	257384	Benign	Kindler's_syndrome|not_specified	0.53237	0.52428	0.52456	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13166	260863	20	6100230	A	C	257385	Benign	Kindler's_syndrome|not_specified	0.59919	0.63558	0.70847	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13167	339257	20	6104048	C	G	350349	Benign	Kindler's_syndrome	.	.	0.42692	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13168	339259	20	6104068	C	T	336223	Benign	Kindler's_syndrome	.	.	0.70407	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13169	195136	20	6751034	A	G	192297	Benign	not_specified	0.70826	0.67231	0.74601	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13170	196322	20	6759115	A	T	193483	Benign	SHORT_STATURE,_FACIAL_DYSMORPHISM,_AND_SKELETA...	0.72931	0.67432	0.76677	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13171	126883	20	7885184	C	G	132395	association	Calcium_oxalate_urolithiasis	.	.	0.32528	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13172	126886	20	7899928	T	C	132398	association	Calcium_oxalate_urolithiasis	.	.	0.3105	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13173	126888	20	7909166	G	A	132400	association	Calcium_oxalate_urolithiasis	.	.	0.30391	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13174	126889	20	7912942	C	G	132401	association	Calcium_oxalate_urolithiasis	.	.	0.29912	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13175	129899	20	8130943	C	T	135345	Benign/Likely_benign	Seizures|not_specified|Early_Infantile_Epilept...	0.19279	0.16853	0.1871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13176	129901	20	8696907	T	G	135347	Benign/Likely_benign	Seizures|not_specified|Early_Infantile_Epilept...	0.07781	0.12164	0.13498	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13177	129908	20	8737734	G	A	135354	Benign/Likely_benign	Seizures|Early_infantile_epileptic_encephalopa...	0.25188	0.27177	0.21226	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13178	129910	20	8755243	T	C	135356	Benign	Seizures|Early_infantile_epileptic_encephalopa...	0.64024	0.6155	0.61322	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13179	129912	20	8769180	C	T	135358	Benign	Early_infantile_epileptic_encephalopathy_12|no...	0.89144	0.94079	0.89697	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13180	129914	20	8770822	C	T	135360	Benign	Seizures|Early_infantile_epileptic_encephalopa...	0.25335	0.29695	0.22863	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13181	339539	20	8864177	T	C	350478	Benign	Early_Infantile_Epileptic_Encephalopathy,_Auto...	.	.	0.80451	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13182	339540	20	8864203	A	G	351533	Benign	Early_Infantile_Epileptic_Encephalopathy,_Auto...	.	.	0.60943	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13183	339544	20	8864448	AACTT	A	351538	Likely_benign	Early_Infantile_Epileptic_Encephalopathy,_Auto...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13184	339548	20	8865006	C	T	336462	Benign	Early_Infantile_Epileptic_Encephalopathy,_Auto...	.	.	0.53594	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13185	339552	20	9288522	G	A	350485	Benign	Auriculocondylar_syndrome_2|Auriculocondylar_s...	0.51654	0.59654	0.47145	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13186	542731	20	10234257	G	A	533432	Benign	not_provided	.	.	0.4978	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13187	261060	20	10393145	C	G	257305	Benign	not_specified	0.24719	.	0.26538	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13188	337715	20	10618574	T	C	344656	Benign	Arteriohepatic_dysplasia|Isolated_Nonsyndromic...	.	.	0.47424	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13189	337723	20	10619014	A	C	344672	Benign	Arteriohepatic_dysplasia|Isolated_Nonsyndromic...	.	.	0.22165	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13190	337729	20	10619289	C	CA	349651	Benign	Arteriohepatic_dysplasia|Isolated_Nonsyndromic...	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13191	337735	20	10619659	TA	T	344686	Benign	Arteriohepatic_dysplasia|Isolated_Nonsyndromic...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13192	42478	20	10620275	G	A	51648	Benign	Arteriohepatic_dysplasia|not_specified|Cardiov...	0.22813	0.23829	0.18011	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13193	137595	20	10620386	A	G	141298	Benign	Arteriohepatic_dysplasia|not_specified|Cardiov...	0.7272	0.65919	0.71266	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13194	255555	20	10622080	CA	C	257308	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13195	143063	20	10633237	G	A	152781	Benign	Arteriohepatic_dysplasia|not_specified|Cardiov...	0.42465	0.45408	0.42332	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13196	213524	20	10639385	A	G	210341	Benign	Arteriohepatic_dysplasia|not_specified|Isolate...	0.42404	0.43754	0.45767	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13197	536536	20	10639543	G	A	534015	Likely_benign	Alagille_syndrome_1	.	.	0.51378	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13198	683425	20	13773572	C	G	670439	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13199	669468	20	13778878	C	G	670197	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13200	129694	20	13782194	C	T	135140	Benign	not_specified|not_provided	0.01492	0.0189	0.01058	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13201	683429	20	13789247	A	G	669030	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13202	257616	20	17474791	G	A	257325	Benign	not_specified|not_provided	0.27649	0.24629	0.20587	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13203	257615	20	17474968	T	C	257326	Benign	not_specified|not_provided	0.74012	.	0.7506	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13204	257617	20	17479617	G	A	257329	Benign	not_specified|not_provided	0.05682	0.0564	0.02256	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13205	380041	20	17950545	A	T	379676	Benign	not_specified|not_provided	0.11087	0.10407	0.08526	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13206	684256	20	17968548	G	A	670201	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13207	262249	20	17968923	T	C	257331	Benign	not_specified|not_provided	0.26549	.	0.3119	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13208	684258	20	17969211	C	T	670141	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13209	337781	20	18488399	C	G	350687	Benign	Congenital_dyserythropoietic_anemia	.	.	0.77197	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13210	95379	20	18511456	A	G	101278	Benign	Congenital_dyserythropoietic_anemia|not_specified	0.91649	0.97473	0.91633	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13211	683996	20	19867042	C	T	669034	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13212	679115	20	19915678	C	G	669036	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13213	384713	20	19955473	C	T	377963	Likely_benign	not_specified	0.01653	0.01449	0.00459	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13214	337852	20	23026496	C	T	334892	Benign	Atypical_hemolytic_uremic_syndrome	.	.	0.77596	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13215	337862	20	23027413	T	G	344766	Benign	Atypical_hemolytic_uremic_syndrome	.	.	0.16713	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13216	337864	20	23027621	T	C	334901	Benign	Atypical_hemolytic_uremic_syndrome	.	.	0.30212	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13217	337883	20	23028724	G	A	334922	Benign	Atypical_hemolytic_uremic_syndrome	0.13788	0.19969	0.16454	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13218	12718	20	23030015	C	T	27757	Conflicting_interpretations_of_pathogenicity	Atypical_hemolytic-uremic_syndrome_6|Atypical_...	.	0.00343	0.0028	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13219	5635	20	23618427	C	T	20674	Conflicting_interpretations_of_pathogenicity	Age-related_macular_degeneration_11	.	0.25489	0.21226	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13220	402569	20	23618571	T	G	390477	Benign	not_specified	.	.	0.21166	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13221	337948	20	25056401	T	C	349766	Likely_benign	Posterior_Polymorphous_Corneal_Dystrophy	.	.	0.02216	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13222	337984	20	25281159	CCT	C	350785	Likely_benign	Polyneuropathy,_hearing_loss,_ataxia,_retiniti...	.	.	0.10383	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13223	128255	20	25288632	G	A	133704	Benign	Polyneuropathy,_hearing_loss,_ataxia,_retiniti...	0.43465	0.46964	0.33606	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13224	337999	20	25371378	G	GGCCTCCGCC	335074	Benign	Polyneuropathy,_hearing_loss,_ataxia,_retiniti...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13225	338004	20	25371559	C	T	349784	Benign	Polyneuropathy,_hearing_loss,_ataxia,_retiniti...	.	.	0.45627	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13226	138405	20	30407213	T	C	142108	Benign/Likely_benign	Hypertrophic_cardiomyopathy|not_specified	.	.	0.05391	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13227	678521	20	30408580	T	C	670158	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13228	36654	20	30412101	C	T	45316	Benign	Cardiomyopathy|Familial_hypertrophic_cardiomyo...	0.01438	0.01137	0.00599	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13229	191741	20	30419929	G	A	190018	Uncertain_significance	Familial_hypertrophic_cardiomyopathy_1|not_pro...	0.00015	2e-05	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13230	683580	20	30795819	T	C	656627	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13231	133599	20	31022959	T	C	137338	not_provided	not_specified	0.99992	0.99998	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13232	338113	20	31024274	T	C	349835	Benign	C-like_syndrome|not_specified	0.32008	0.41833	0.40575	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13233	338120	20	31025163	A	G	345017	Benign	C-like_syndrome	0.30517	0.40651	0.39996	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13234	338123	20	31025231	T	C	345023	Benign	C-like_syndrome	.	.	0.39976	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13235	338126	20	31025535	A	G	335208	Benign	C-like_syndrome	.	.	0.42891	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13236	338165	20	31383353	T	G	345058	Benign	Immunodeficiency-centromeric_instability-facia...	0.40289	0.48356	0.58486	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13237	338170	20	31386347	T	C	345062	Benign	Immunodeficiency-centromeric_instability-facia...	0.57912	0.58058	0.75579	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13238	338171	20	31386449	T	C	335243	Benign	Immunodeficiency-centromeric_instability-facia...	0.57773	0.57922	0.75579	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13239	338175	20	31387954	C	G	335245	Benign	Immunodeficiency-centromeric_instability-facia...	0.53398	.	0.71406	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13240	338180	20	31388636	T	C	349870	Benign	Immunodeficiency-centromeric_instability-facia...	0.56213	0.57372	0.74261	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13241	338197	20	31396536	A	G	350898	Benign	Immunodeficiency-centromeric_instability-facia...	.	.	0.80471	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13242	338201	20	31397019	AT	A	345089	Benign	Immunodeficiency-centromeric_instability-facia...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13243	670951	20	32000351	A	G	670166	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13244	683867	20	32026350	C	G	669066	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13245	338286	20	32891200	G	T	349903	Benign	Hypermethioninemia	.	.	0.67712	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13246	255474	20	33533736	A	C	257352	Benign	not_specified|not_provided	0.70537	.	0.66434	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13247	510873	20	33581955	G	A	507152	Benign	not_specified	0.35614	0.43246	0.39677	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13248	256716	20	34022387	A	C	257356	Benign	Brachydactyly|Acromesomelic_Dysplasia|Symphala...	0.36906	.	0.38399	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13249	256712	20	34025756	A	G	257358	Benign	Brachydactyly|Acromesomelic_Dysplasia|Symphala...	0.58252	0.47435	0.5611	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13250	8390	20	34025983	A	G	23429	Benign	Brachydactyly|Osteoarthritis_of_hip|Acromesome...	.	.	0.54653	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13251	671453	20	34285442	C	T	669101	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13252	708475	20	34526853	C	T	728625	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13253	683687	20	35865054	C	T	656633	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13254	770815	20	36784246	C	T	778680	Likely_benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13255	402430	20	36932660	C	T	390390	Benign	not_specified	0.42742	0.50618	0.43131	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13256	402431	20	36932676	G	C	390456	Benign	not_specified	0.43003	0.50762	0.4347	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13257	402433	20	36940314	C	T	390457	Benign	not_specified	0.04313	0.05729	0.05132	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13258	402434	20	36946848	G	A	390480	Benign	not_specified	0.49531	0.46237	0.4351	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13259	338393	20	39315589	C	CT	335418	Benign	Multicentric_osteolysis_nephropathy	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13260	775648	20	40074369	C	T	705487	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13261	775649	20	40161684	C	T	778598	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13262	775650	20	40161979	T	A	705488	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13263	683545	20	42814688	G	T	669103	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13264	671113	20	42814931	T	C	669121	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13265	137602	20	42815190	G	A	141305	Benign	Familial_hypertrophic_cardiomyopathy_17|not_sp...	0.86629	0.84495	0.85423	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13266	676906	20	43042130	C	G	670492	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13267	676907	20	43042580	C	G	670262	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13268	676908	20	43042950	A	C	670209	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13269	674363	20	43043051	C	G	670264	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13270	674364	20	43043095	G	A	670271	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13271	676879	20	43047293	A	G	669133	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13272	676881	20	43048685	A	G	670495	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13273	676882	20	43052570	T	C	670274	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13274	676884	20	43058018	T	C	669135	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13275	676886	20	43058096	C	G	670497	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13276	338448	20	43059211	A	C	335470	Likely_benign	Maturity_onset_diabetes_mellitus_in_young|Hype...	.	.	0.57129	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13277	402340	20	43264927	C	T	390343	Benign	not_specified	0.98462	0.99554	0.98223	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13278	444117	20	43882833	G	A	437771	Benign	Diabetes_mellitus_type_2	.	.	0.16154	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13279	444116	20	43948221	A	C	437780	Benign	Diabetes_mellitus_type_2	.	.	0.2486	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13280	444120	20	43953076	T	G	437781	Benign	Diabetes_mellitus_type_2	.	.	0.41733	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13281	444112	20	43953319	CAG	C	437782	Benign	Diabetes_mellitus_type_2	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13282	444106	20	43957510	G	A	437783	Benign	Diabetes_mellitus_type_2	.	.	0.29593	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13283	444111	20	43958755	G	A	437784	Benign	Diabetes_mellitus_type_2	.	.	0.80371	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13284	444113	20	43964288	T	C	437785	Benign	Diabetes_mellitus_type_2	.	.	0.49501	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13285	338513	20	44519643	G	A	351036	Benign	Combined_deficiency_of_sialidase_AND_beta_gala...	0.36091	0.58237	0.38419	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13286	338520	20	44519793	A	C	351042	Likely_benign	Combined_deficiency_of_sialidase_AND_beta_gala...	.	.	0.01558	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13287	683633	20	44522594	A	G	670283	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13288	683634	20	44522953	C	T	670506	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13289	558867	20	44523442	TC	T	549810	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13290	338535	20	44523547	G	A	345347	Benign	Combined_deficiency_of_sialidase_AND_beta_gala...	0.63494	0.66018	0.67832	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13291	338538	20	44523782	C	T	351057	Benign	Combined_deficiency_of_sialidase_AND_beta_gala...	0.63663	0.66076	0.67991	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13292	671990	20	44526783	G	A	670285	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13293	13634	20	44548193	C	T	28673	association	High_density_lipoprotein_cholesterol_level_qua...	.	.	0.3143	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13294	130810	20	44596207	C	G	136255	Likely_benign	not_specified	0.9245	0.8493	0.77776	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13295	130807	20	44596545	G	A	136252	Benign	not_specified	0.33374	0.33129	0.1857	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13296	130795	20	44599839	G	C	136240	Likely_benign	not_specified	0.95423	0.89384	0.85982	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13297	338546	20	44637624	C	T	350025	Likely_benign	Metaphyseal_anadysplasia	0.01684	0.03496	0.03275	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13298	338554	20	44640959	G	A	351068	Benign	Metaphyseal_anadysplasia	0.47147	0.43608	0.26058	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13299	282093	20	44642406	G	C	266330	Benign	Metaphyseal_anadysplasia|Metaphyseal_anadyspla...	0.91996	.	0.83027	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13300	285363	20	44642833	A	C	269600	Benign	Metaphyseal_anadysplasia|not_specified	0.59958	0.47076	0.40595	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13301	338562	20	44645010	C	T	350030	Benign	Metaphyseal_anadysplasia	0.47309	0.4329	0.25938	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13302	338563	20	44645153	T	C	345359	Benign	Metaphyseal_anadysplasia	.	.	0.16374	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13303	475656	20	44664491	C	A	470904	Benign	Early_infantile_epileptic_encephalopathy_34	0.01807	0.03532	0.03215	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13304	475658	20	44665946	T	C	470416	Benign	Early_infantile_epileptic_encephalopathy_34	0.01807	0.03561	0.03315	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13305	475640	20	44671880	C	T	469378	Benign	Early_infantile_epileptic_encephalopathy_34	0.01799	0.03515	0.03295	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13306	475644	20	44676727	T	A	471417	Benign	Early_infantile_epileptic_encephalopathy_34	0.0213	0.0454	0.03095	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13307	338569	20	44746982	T	C	350035	Benign	Immunodeficiency_with_hyper_IgM_type_3|not_spe...	0.80301	0.75273	0.77117	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13308	338576	20	44757524	C	G	335608	Benign/Likely_benign	Immunodeficiency_with_hyper_IgM_type_3|not_spe...	0.00661	0.01706	0.01597	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13309	338624	20	45363813	G	A	351090	Uncertain_significance	Arterial_tortuosity_syndrome	.	.	0.00379	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13310	667995	20	47639991	A	G	670247	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13311	261263	20	50405502	C	G	257369	Benign	not_specified|SALL4-Related_Spectrum_Disorders	0.09765	.	0.04972	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13312	261260	20	50407162	T	C	257372	Benign	not_specified|SALL4-Related_Spectrum_Disorders	0.30209	0.35783	0.38199	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13313	261259	20	50407502	A	C	257373	Benign	Duane-radial_ray_syndrome|not_specified|SALL4-...	0.2781	.	0.35883	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13314	261258	20	50407966	C	T	257374	Benign	not_specified|SALL4-Related_Spectrum_Disorders	0.33523	0.25225	0.20927	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13315	261264	20	50408482	A	G	257377	Benign	not_specified|SALL4-Related_Spectrum_Disorders	0.99562	0.99651	0.9974	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13316	338789	20	52770054	C	CAT	351180	Benign	Infantile_hypercalcemia	.	.	0.61062	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13317	338797	20	52770596	G	C	335826	Benign	Infantile_hypercalcemia	.	.	0.21665	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13318	338810	20	52771261	G	A	351190	Benign	Infantile_hypercalcemia	.	.	0.1887	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13319	338831	20	52786219	G	A	350152	Benign	Infantile_hypercalcemia|Idiopathic_hypercalcem...	0.5243	0.49236	0.45807	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13320	667564	20	55803149	C	T	670253	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13321	667563	20	55803687	C	T	669189	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13322	338868	20	56136536	A	G	345596	Benign	Phosphoenolpyruvate_carboxykinase_(GTP)_defici...	0.44795	.	0.39697	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13323	338875	20	56137798	G	A	351214	Benign	Phosphoenolpyruvate_carboxykinase_(GTP)_defici...	0.41273	0.37883	0.29513	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13324	338876	20	56137807	A	G	351217	Benign	Phosphoenolpyruvate_carboxykinase_(GTP)_defici...	0.44964	0.4111	0.3133	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13325	338877	20	56137834	A	G	335894	Benign	Phosphoenolpyruvate_carboxykinase_(GTP)_defici...	0.44956	0.41447	0.3141	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13326	338879	20	56137895	G	C	351218	Benign	Phosphoenolpyruvate_carboxykinase_(GTP)_defici...	0.9012	0.84626	0.84605	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13327	338882	20	56138621	A	G	345601	Likely_benign	Phosphoenolpyruvate_carboxykinase_(GTP)_defici...	0.09872	0.09257	0.05771	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13328	338889	20	56139403	T	C	345602	Benign	Phosphoenolpyruvate_carboxykinase_(GTP)_defici...	0.80225	0.75474	0.78694	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13329	338898	20	56140980	T	G	351230	Benign	Phosphoenolpyruvate_carboxykinase_(GTP)_defici...	.	.	0.42432	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13330	259537	20	57009796	C	T	257378	Benign	not_specified	0.41458	0.41675	0.41693	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13331	338947	20	57020573	A	G	335929	Benign	Amyotrophic_Lateral_Sclerosis,_Dominant|Spinal...	.	0.222	0.18031	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13332	338974	20	57022712	GTGTGTGCA	G	350203	Benign	Amyotrophic_Lateral_Sclerosis,_Dominant|Spinal...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13333	339005	20	57024541	T	C	350221	Benign	Amyotrophic_Lateral_Sclerosis,_Dominant|Spinal...	.	0.42719	0.48323	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13334	339006	20	57024589	C	T	350223	Benign	Amyotrophic_Lateral_Sclerosis,_Dominant|Spinal...	.	0.25469	0.20907	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13335	339050	20	57244493	G	A	336021	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	0.51639	0.50207	0.47444	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13336	339081	20	57253132	A	G	345794	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.53934	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13337	339087	20	57253275	C	T	350266	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.20447	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13338	339089	20	57253404	G	A	351305	Benign	Pseudohypoaldosteronism_type_1_autosomal_dominant	.	.	0.39297	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13339	197681	20	57478807	C	T	194842	Benign	not_specified	0.57943	0.54733	0.64437	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13340	136462	20	57607260	G	A	140165	Benign	not_specified	0.00133	0.00331	0.001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13341	506081	20	60864390	C	T	497338	Benign	not_specified	0.40257	0.46835	0.42472	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13342	258413	20	61467800	A	G	257414	Benign	not_specified	0.14047	0.18882	0.22304	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13343	258415	20	61467898	G	C	257416	Benign	Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp...	0.91246	0.91983	0.93331	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13344	258417	20	61468571	T	C	257418	Benign	Multiple_Epiphyseal_Dysplasia,_Dominant|not_sp...	0.7644	0.68695	0.70986	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13345	339318	20	61472386	A	G	346001	Benign	Multiple_Epiphyseal_Dysplasia,_Dominant	.	.	0.24561	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13346	339320	20	61472440	C	T	351403	Benign	Multiple_Epiphyseal_Dysplasia,_Dominant	.	.	0.24301	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13347	668093	20	61978524	T	C	670560	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13348	93428	20	61981104	C	T	99335	Benign	Seizures|Nicotine_addiction,_protection_agains...	0.40943	0.47498	0.35184	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13349	93427	20	61981134	G	A	99334	Benign	Seizures|Nicotine_addiction,_protection_agains...	0.40831	.	0.32348	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13350	93425	20	61981536	A	G	99332	Benign	Seizures|Epilepsy,_nocturnal_frontal_lobe,_typ...	0.85714	0.93575	0.87081	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13351	93424	20	61981554	C	A	99331	Benign	Seizures|Epilepsy,_nocturnal_frontal_lobe,_typ...	0.75139	.	0.73383	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13352	128750	20	61982085	A	G	134199	Benign	Seizures|not_specified|not_provided	0.8433	0.91955	0.86362	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13353	128749	20	61982124	A	G	134198	Benign	Seizures|not_specified|not_provided	0.76695	0.83528	0.75719	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13354	668092	20	61982692	C	T	670287	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13355	670759	20	61990874	T	C	670577	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13356	679895	20	61991301	A	C	669204	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13357	679894	20	61992285	A	C	670584	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13358	21779	20	62038277	T	G	34631	Benign	Seizures|Benign_familial_neonatal_seizures_1|K...	0.5987	0.63724	0.59045	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13359	498785	20	62046496	C	CGACAGACA	490209	Benign	not_specified	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13360	675061	20	62055417	G	A	669223	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13361	682049	20	62059505	G	A	670375	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13362	682047	20	62065420	C	T	669227	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13363	682046	20	62065460	G	A	670315	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13364	682045	20	62070301	C	T	670376	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13365	670764	20	62076743	C	A	670390	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13366	683726	20	62076988	T	C	670322	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13367	668925	20	62078487	T	C	669249	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13368	680018	20	62119875	T	C	670338	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13369	680017	20	62122211	G	T	670597	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13370	379689	20	62126185	A	G	379761	Benign	Seizures|not_specified|not_provided	0.57394	0.57098	0.59165	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13371	380779	20	62126299	C	T	378443	Benign	Seizures|not_specified|not_provided	0.09914	0.13538	0.14018	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13372	668129	20	62126745	G	A	669259	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13373	680009	20	62128735	T	C	670349	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13374	496489	20	62305274	G	A	488061	Benign	not_provided	0.25065	0.24911	0.29373	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13375	496488	20	62309554	C	T	487850	Benign	not_provided	0.69453	0.66482	0.61162	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13376	403398	20	62320968	T	C	390347	Benign	not_specified|not_provided	0.82776	0.74863	0.71825	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13377	403400	20	62321655	G	A	390350	Benign	not_specified|not_provided	0.80817	0.74108	0.69609	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13378	403401	20	62322288	T	C	390482	Benign	not_specified|not_provided	0.8353	0.76529	0.71805	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13379	403402	20	62326110	A	C	390459	Benign	not_specified|not_provided	0.82324	0.75473	0.73682	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13380	403404	20	62328375	A	G	390461	Benign	Dyskeratosis_congenita,_autosomal_recessive,_5...	0.94222	0.9384	0.96546	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13381	375482	20	62421622	A	G	362292	association	Chronic_osteomyelitis	0.16923	0.17504	0.26518	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13382	679297	20	62559964	G	A	669275	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13383	339415	20	62565833	C	T	351455	Benign	Neuronal_Ceroid-Lipofuscinosis,_Recessive	.	.	0.27616	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13384	770004	20	62571417	AGG	AG,A	778592	Benign	not_provided	.	.	.	1/2	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13385	339463	20	62612675	G	A	351479	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.07661	0.20744	0.09485	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13386	339483	20	62659937	C	T	336423	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.14778	0.13183	0.15855	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13387	339492	20	62664365	C	T	350449	Likely_benign	Retinitis_Pigmentosa,_Dominant	0.11856	0.1332	0.07268	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13388	774533	21	16337111	G	A	705627	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13389	782067	21	16338259	A	G	717163	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13390	586762	21	34003928	A	AAGTATT	577888	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13391	586760	21	34014283	C	A	577890	Benign	not_provided	0.28694	0.28848	0.29133	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13392	586758	21	34059352	T	C	577892	Benign	not_provided	0.29761	0.29339	0.30411	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13393	7288	21	34614250	T	C	22327	risk_factor	Hepatitis_b_virus,_susceptibility_to	.	0.10539	0.11861	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13394	775442	21	34625037	C	G	705659	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13395	402970	21	34634878	G	A	390483	Benign	not_specified	.	0.43007	0.4353	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13396	339698	21	34668747	A	G	351592	Benign	Inflammatory_bowel_disease	.	0.63616	0.56849	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13397	339709	21	34669381	G	A	346315	Benign	Inflammatory_bowel_disease	.	.	0.5651	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13398	402963	21	34799350	C	G	390403	Benign	not_specified	0.75219	0.76422	0.84225	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13399	339716	21	35736384	G	A	346324	Likely_benign	Long_QT_syndrome|Romano-Ward_syndrome|Familial...	.	.	0.10663	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13400	339721	21	35819014	G	A	336618	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	.	.	0.67612	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13401	339722	21	35819063	T	C	346327	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	.	.	0.45128	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13402	339732	21	35819536	A	G	351613	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	.	.	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13403	339746	21	35819995	G	GC	336627	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13404	339751	21	35820324	T	C	336636	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	.	.	0.49361	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13405	339764	21	35821087	G	A	336663	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	.	.	0.44808	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13406	339769	21	35821419	T	C	346347	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	.	.	0.41214	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13407	132651	21	35821821	T	C	136399	Benign	Long_QT_syndrome|Jervell_and_Lange-Nielsen_syn...	0.66193	0.64771	0.67392	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13408	671896	21	35822111	A	G	670353	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13409	675606	21	35822270	T	C	669293	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13410	137976	21	35831815	A	C	141679	Benign	not_specified	.	.	0.99381	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13411	258180	21	36164405	G	T	257452	Benign	Familial_platelet_disorder_with_associated_mye...	.	0.60031	0.37061	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13412	258186	21	36206932	G	A	257457	Benign	Familial_platelet_disorder_with_associated_mye...	.	1	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13413	44088	21	37833307	C	T	53256	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.22313	0.16824	0.13538	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13414	44084	21	37833751	G	A	53252	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.27626	0.21609	0.1901	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13415	339915	21	38123404	A	AAT	350652	Benign	Holocarboxylase_synthetase_deficiency	.	.	0.35244	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13416	256033	21	38126507	T	C	257460	Likely_benign	Holocarboxylase_synthetase_deficiency|not_spec...	0.02025	0.02775	0.02356	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13417	676139	21	38128707	G	A	670612	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13418	256035	21	38132172	C	T	257461	Benign	not_specified|not_provided	0.42565	.	0.38299	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13419	256034	21	38139632	C	A	257463	Benign	not_specified	0.57543	0.56325	0.6276	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13420	92915	21	38302543	CA	C	98822	Benign/Likely_benign	Holocarboxylase_synthetase_deficiency|not_spec...	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13421	256037	21	38302769	C	T	257464	Benign	not_specified	0.54014	0.5863	0.5597	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13422	680600	21	38308552	C	T	670360	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13423	137552	21	38362470	A	G	141255	Benign	Holocarboxylase_synthetase_deficiency|not_spec...	.	.	0.26098	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13424	339982	21	38362498	G	A	351758	Benign	Holocarboxylase_synthetase_deficiency	.	.	0.25499	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13425	679843	21	38791156	A	G	670422	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13426	204008	21	38853058	T	TA	200401	Pathogenic	Inborn_genetic_diseases|Mental_retardation,_au...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13427	681326	21	38858938	G	A	670625	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13428	679364	21	38865507	C	G	670431	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13429	668911	21	38868111	A	T	670629	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13430	339990	21	43160015	C	T	350694	Benign	Popliteal_pterygium_syndrome	.	.	0.41733	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13431	339992	21	43160214	A	ACT	346491	Benign	Popliteal_pterygium_syndrome	.	.	0.43171	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13432	339999	21	43160438	T	C	350704	Benign	Popliteal_pterygium_syndrome	.	.	0.4379	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13433	340006	21	43160908	A	G	351774	Benign	Popliteal_pterygium_syndrome	.	.	0.76917	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13434	261351	21	43161022	C	T	257465	Benign	Popliteal_pterygium_syndrome|not_specified	0.38711	0.45312	0.44549	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13435	261350	21	43161357	T	C	257466	Benign	Popliteal_pterygium_syndrome|not_specified	0.98016	0.96519	0.95687	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13436	261349	21	43161805	G	A	257467	Benign	Popliteal_pterygium_syndrome|not_specified	0.51438	0.60198	0.53095	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13437	261348	21	43161877	C	T	257468	Benign	Popliteal_pterygium_syndrome|not_specified	0.39882	0.44337	0.4401	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13438	261347	21	43162150	G	A	257469	Benign	Popliteal_pterygium_syndrome|not_specified	0.39549	0.45174	0.4401	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13439	261346	21	43164232	C	A	257470	Benign	Popliteal_pterygium_syndrome|not_specified	0.36291	0.41258	0.38419	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13440	46089	21	43792869	C	T	55254	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.16308	0.2358	0.26897	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13441	46129	21	43803167	T	C	55294	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.16016	0.16268	0.24121	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13442	46121	21	43805656	T	C	55286	Benign/Likely_benign	not_specified|Nonsyndromic_Hearing_Loss,_Reces...	0.58212	0.48773	0.61841	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13443	672235	21	44476759	A	G	669323	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13444	683312	21	44478000	T	C	670378	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13445	668732	21	44480283	G	A	669335	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13446	678456	21	44483773	G	A	670447	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13447	256010	21	44589215	C	T	257472	Benign	Congenital_cataract|not_specified|not_provided	0.6437	0.5404	0.5	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13448	340112	21	44592875	G	A	336903	Likely_benign	Congenital_cataract	.	.	0.10663	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13449	586586	21	44837551	G	A	577895	Benign	Seizures|not_provided	0.72414	0.80005	0.72544	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13450	586585	21	44837555	G	A	577896	Benign	Seizures|Epileptic_encephalopathy,_early_infan...	0.84547	0.89001	0.83067	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13451	586588	21	44846016	C	T	577899	Benign	Seizures|not_provided	0.18687	0.28127	0.16653	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13452	495855	21	45705952	C	T	487965	Benign/Likely_benign	not_provided	0.00082	0.00221	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13453	128338	21	45708277	C	T	133787	Benign	not_specified	0.18679	0.20799	0.13319	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13454	803633	21	45712357	AC	A	792010	Benign	Polyglandular_autoimmune_syndrome,_type_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13455	128336	21	45712977	T	C	133785	Benign	not_specified	0.3935	0.37799	0.35623	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13456	128337	21	45717550	T	C	133786	Benign	not_specified	0.49438	0.46107	0.53035	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13457	340134	21	46306161	C	T	351837	Likely_benign	Leukocyte_adhesion_deficiency	.	.	0.15835	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13458	100752	21	46306472	C	G	106617	not_provided	Leukocyte_adhesion_deficiency_type_1	.	.	0.19429	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13459	340155	21	46311813	A	G	346638	Benign	Leukocyte_adhesion_deficiency|not_specified	0.75015	0.68883	0.76298	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13460	100746	21	46313442	G	T	106611	Benign	Leukocyte_adhesion_deficiency|Leukocyte_adhesi...	0.24089	0.23067	0.19908	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13461	100745	21	46314907	T	A	106610	Benign	Leukocyte_adhesion_deficiency|Leukocyte_adhesi...	0.99985	0.99994	1	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13462	100765	21	46315022	C	T	106630	not_provided	Leukocyte_adhesion_deficiency_type_1	0.2535	0.23505	0.20727	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13463	100761	21	46320313	C	T	106626	Benign	Leukocyte_adhesion_deficiency|Leukocyte_adhesi...	0.21621	0.24285	0.22304	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13464	100756	21	46321659	C	A	106621	Likely_benign	Leukocyte_adhesion_deficiency|Leukocyte_adhesi...	0.18099	.	0.13918	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13465	340172	21	46323273	G	A	350811	Benign/Likely_benign	Leukocyte_adhesion_deficiency|Leukocyte_adhesi...	0.03545	0.02343	0.04712	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13466	377981	21	46327026	C	A	378485	Benign	not_specified	0.06867	0.07461	0.10883	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13467	803634	21	46328099	T	C	792011	Benign	Leukocyte_adhesion_deficiency_type_1	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13468	100753	21	46330674	C	A	106618	Benign	Leukocyte_adhesion_deficiency|Leukocyte_adhesi...	0.21716	0.2285	0.21306	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13469	518320	21	46875564	T	C	508935	Benign	Knobloch_syndrome_1|not_provided	0.96933	0.9705	0.98842	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13470	261919	21	46876083	A	G	257481	Benign	not_specified	0.38293	0.34374	0.3756	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13471	261885	21	46893767	A	G	257482	Benign	not_specified	0.22205	0.20054	0.248	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13472	340214	21	46897893	T	TC	351873	Likely_benign	Knobloch_syndrome_1	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13473	261890	21	46899947	G	A	257487	Benign	not_specified	0.19232	.	0.17053	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13474	261892	21	46901973	A	C	257489	Benign	not_specified	0.22978	0.22648	0.20827	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13475	261895	21	46908355	T	C	257492	Benign	Knobloch_syndrome_1|not_specified	0.31287	.	0.31989	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13476	803635	21	46911299	G	GC	792012	Benign	Knobloch_syndrome_1	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13477	340240	21	46913153	G	T	336991	Likely_benign	Knobloch_syndrome_1	0.02449	0.02719	0.01198	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13478	157588	21	46957794	T	C	167450	Uncertain_significance	Gastrointestinal_stroma_tumor	0.50932	0.57697	0.48862	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13479	671107	21	47402227	G	GC	670465	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13480	93873	21	47404397	A	G	99775	Benign	Collagen_VI-related_myopathy|not_specified	0.86318	0.86443	0.88039	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13481	93876	21	47406421	G	A	99778	Benign	not_specified	0.18643	0.18468	0.11242	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13482	93879	21	47406612	C	A	99781	Benign	Collagen_VI-related_myopathy|not_specified	.	0.7215	0.69589	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13483	679177	21	47409113	C	T	670412	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13484	679178	21	47409239	G	C	670417	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13485	93891	21	47409503	A	G	99793	Benign	not_specified	0.86294	0.86182	0.8768	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13486	93897	21	47409580	C	A	99799	Benign	Collagen_VI-related_myopathy|not_specified	0.17899	0.18246	0.09405	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13487	93793	21	47410373	A	G	99695	Benign	not_specified	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13488	93800	21	47410386	C	T	99702	Benign	not_specified	.	.	0.0022	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13489	679180	21	47410626	T	G	670469	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13490	93805	21	47410931	T	C	99707	Benign	Bethlem_myopathy_1|Ullrich_congenital_muscular...	0.62394	0.53147	0.54493	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13491	680311	21	47412511	G	A	669369	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13492	93811	21	47412751	A	C	99713	Benign	not_specified|not_provided	0.87904	0.85892	0.87141	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13493	679939	21	47413929	G	T	670667	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13494	679940	21	47417206	A	G	669370	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13495	93813	21	47417303	T	C	99715	Benign	not_specified|not_provided	0.47278	0.53754	0.51158	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13496	93815	21	47417415	C	A	99717	Benign	not_specified	0.54237	.	0.61002	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13497	93816	21	47417432	A	AG	99718	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13498	93817	21	47417578	A	G	99719	Benign	not_specified|not_provided	0.35836	0.34121	0.28714	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13499	93822	21	47417975	A	G	99724	Benign	not_specified|not_provided	0.88207	.	0.88339	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13500	680314	21	47418234	G	C	670423	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13501	679945	21	47418564	T	C	669373	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13502	93826	21	47419012	C	T	99728	Benign	not_specified|not_provided	0.34181	.	0.28934	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13503	679948	21	47419277	G	T	670668	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13504	679947	21	47419697	C	T	670669	Benign	not_provided	.	.	.	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13505	679949	21	47419747	A	G	670671	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13506	679185	21	47420016	G	A	669397	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13507	679186	21	47420418	C	T	670680	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13508	93831	21	47420723	G	C	99733	Benign	not_specified|not_provided	0.33608	0.28387	0.26597	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13509	93832	21	47420726	C	G	99734	Benign	not_specified|not_provided	0.86668	.	0.83027	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13510	93834	21	47420761	G	A	99736	Benign	not_specified|not_provided	0.50197	.	0.55951	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13511	93835	21	47420769	A	G	99737	Benign	not_specified|not_provided	0.86049	.	0.86741	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13512	679192	21	47420866	C	T	669411	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13513	679195	21	47420971	A	G	669417	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13514	93850	21	47422412	C	T	99752	Benign	not_specified|not_provided	0.48255	0.56202	0.55132	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13515	679201	21	47423133	C	G	670685	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13516	93861	21	47423389	G	A	99763	Benign	Bethlem_myopathy_1|Ullrich_congenital_muscular...	0.33961	0.28883	0.27017	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13517	93864	21	47423507	G	A	99766	Benign	Bethlem_myopathy_1|Ullrich_congenital_muscular...	0.33726	0.28593	0.26817	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13518	93865	21	47423509	C	T	99767	Benign	Bethlem_myopathy_1|Ullrich_congenital_muscular...	0.16187	0.1626	0.10883	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13519	93870	21	47423636	C	T	99772	Benign	Collagen_VI-related_myopathy|not_specified	0.32713	0.27149	0.26418	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13520	340342	21	47424346	A	G	350905	Benign	Collagen_VI-related_myopathy	.	.	0.88199	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13521	679204	21	47531215	C	T	670436	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13522	93955	21	47532440	C	T	99857	Benign	Myosclerosis|Collagen_VI-related_myopathy|not_...	0.09475	.	0.09505	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13523	679205	21	47532544	C	T	670443	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13524	679207	21	47535536	T	G	670444	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13525	93963	21	47536546	C	T	99865	Benign	not_specified	0.42464	0.49215	0.39756	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13526	93900	21	47537882	G	A	99802	Benign	not_specified|not_provided	0.46341	0.5309	0.45148	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13527	679212	21	47538050	G	A	670455	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13528	679213	21	47538071	G	A	670458	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13529	679206	21	47538310	A	T	669446	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13530	93903	21	47538960	G	A	99805	Benign	Myosclerosis|Collagen_VI-related_myopathy|not_...	0.72923	.	0.70527	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13531	93905	21	47539790	A	G	99807	Benign	not_specified|not_provided	0.82267	0.76684	0.8097	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13532	672468	21	47540036	G	A	669449	Likely_benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13533	671689	21	47540050	C	T	670698	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13534	679215	21	47540186	C	T	669451	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13535	679217	21	47540200	C	T	670501	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13536	679209	21	47540231	A	C	670502	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13537	679218	21	47540260	C	T	670709	Benign	not_provided	.	.	.	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13538	679222	21	47540725	G	A	670710	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13539	679210	21	47541744	A	G	670712	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13540	679224	21	47542220	C	T	670715	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13541	93914	21	47542861	A	G	99816	Benign	Myosclerosis|Collagen_VI-related_myopathy|not_...	0.86087	0.81221	0.84744	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13542	668105	21	47544308	T	C	670474	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13543	93916	21	47544541	C	G	99818	Benign	not_specified|not_provided	0.41401	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13544	93919	21	47544769	A	G	99821	Benign/Likely_benign	not_specified|not_provided	0.09342	0.08368	0.07568	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13545	93922	21	47545155	A	G	99824	Benign	not_specified|not_provided	0.80332	0.79849	0.79513	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13546	93929	21	47545768	G	A	99831	Benign	Myosclerosis|Bethlem_myopathy_1|Collagen_VI-re...	0.41296	0.4784	0.39397	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13547	93930	21	47545823	G	A	99832	Benign	Myosclerosis|Collagen_VI-related_myopathy|not_...	0.41273	0.47551	0.39417	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13548	93931	21	47545826	C	T	99833	Benign	Myosclerosis|Collagen_VI-related_myopathy|not_...	0.41258	0.47551	0.39397	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13549	679226	21	47546244	T	C	669469	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13550	679219	21	47549613	C	T	670494	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13551	679228	21	47549629	T	A	670511	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13552	93940	21	47551833	C	T	99842	Benign	not_specified|not_provided	0.53189	0.53587	0.48383	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13553	93948	21	47552209	G	A	99850	Benign/Likely_benign	GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|Myos...	0.0814	0.09244	0.06729	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13554	340393	21	47552527	G	A	350939	Likely_benign	GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|Myos...	.	.	0.03994	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13555	95424	21	47558473	G	C	101323	Benign	GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY|not_...	0.47133	0.5139	0.48103	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13556	677175	21	47614469	A	C	656675	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13557	677221	21	47635176	T	C	656676	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13558	677174	21	47635627	C	G	656677	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13559	677173	21	47635713	G	A	670517	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13560	677172	21	47639492	C	G	670522	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13561	677220	21	47641794	C	T	656678	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13562	677219	21	47642609	G	A	656679	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13563	403075	21	47685939	A	G	390367	Benign	not_specified	0.47401	0.45147	0.42173	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13564	718693	21	47704253	G	C	728978	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13565	403613	21	47704896	G	A	390484	Benign	not_specified	0.33146	0.32412	0.2486	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13566	402442	21	47721985	A	ATGG	390504	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13567	340455	21	47744037	CG	C	351957	Benign	Microcephalic_Osteodysplastic_Primordial_Dwarfism	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13568	95341	21	47766139	T	C	101240	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.68907	0.6408	0.67512	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13569	667797	21	47766232	A	C	670527	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13570	159653	21	47766650	G	A	169621	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.32027	.	0.29992	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13571	668870	21	47771056	C	T	670727	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13572	159566	21	47773103	C	A	169626	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.29825	.	0.28954	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13573	667796	21	47776706	G	A	669479	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13574	159569	21	47777063	G	A	169629	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.89382	0.85592	0.84864	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13575	667798	21	47777222	A	G	670498	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13576	159572	21	47783796	T	C	169631	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.89487	0.85481	0.84705	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13577	667799	21	47784060	T	C	670503	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13578	159573	21	47786449	T	A	169632	Benign	not_specified|not_provided	0.89119	.	0.80651	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13579	159574	21	47786494	C	T	169633	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.68856	0.74868	0.65775	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13580	159579	21	47786817	C	G	169638	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.88175	0.85275	0.83886	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13581	159581	21	47787002	T	C	169640	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.88305	0.853	0.83766	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13582	159597	21	47811272	C	T	169654	Benign	not_specified|Microcephalic_Osteodysplastic_Pr...	0.28794	0.36576	0.30152	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13583	667804	21	47816953	G	A	670736	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13584	673979	21	47818298	T	C	670743	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13585	667805	21	47821726	G	A	669484	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13586	667543	21	47830843	T	C	670510	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13587	159642	21	47836653	C	T	169690	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.22527	0.28109	0.2496	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13588	667806	21	47847852	T	C	670748	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13589	159668	21	47850405	C	T	169714	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.70557	0.66531	0.66913	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13590	159670	21	47850484	G	C	169716	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.48408	0.57743	0.48822	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13591	159671	21	47851753	A	G	169717	Benign	Microcephalic_osteodysplastic_primordial_dwarf...	0.69184	0.63968	0.66993	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13592	668871	21	47855509	G	A	670529	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13593	159685	21	47856106	C	A	169731	Benign	not_specified|not_provided	0.29821	0.35946	0.3127	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13594	159692	21	47860764	T	C	169737	Benign/Likely_benign	not_specified|Microcephalic_Osteodysplastic_Pr...	0.159	0.12772	0.10583	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13595	667801	21	47862188	T	C	670534	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13596	667803	21	47862624	A	G	670516	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13597	718694	21	48081808	G	A	728990	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13598	340557	22	17565932	T	C	346957	Benign	Familial_Candidiasis,_Recessive	.	0.79412	0.77496	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13599	340561	22	17565974	G	C	351009	Benign	not_specified|Familial_Candidiasis,_Recessive	.	0.80657	0.77476	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13600	340585	22	17586471	C	T	352040	Benign	Immunodeficiency_51|not_specified|Familial_Can...	0.81455	0.81149	0.83227	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13601	340592	22	17589246	G	A	351025	Benign	Familial_Candidiasis,_Recessive	0.1587	0.11533	0.12141	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13602	340614	22	17590744	T	C	351038	Benign	Familial_Candidiasis,_Recessive	0.23296	0.23956	0.27995	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13603	340622	22	17591089	G	A	351041	Benign	Familial_Candidiasis,_Recessive	.	.	0.73103	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13604	340624	22	17591144	C	T	351044	Benign	Familial_Candidiasis,_Recessive	.	.	0.53974	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13605	340632	22	17591697	G	A	351047	Benign	Familial_Candidiasis,_Recessive	.	.	0.55551	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13606	340645	22	17592396	G	A	347016	Uncertain_significance	Familial_Candidiasis,_Recessive	.	.	0.00419	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13607	340670	22	17593685	G	A	347027	Benign	Familial_Candidiasis,_Recessive	.	.	0.83666	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13608	340706	22	17594886	T	C	352116	Benign	Familial_Candidiasis,_Recessive	.	.	0.48742	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13609	340707	22	17594915	G	A	337411	Benign	Familial_Candidiasis,_Recessive	.	.	0.48642	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13610	340710	22	17595070	T	G	337414	Benign	Familial_Candidiasis,_Recessive	.	.	0.48602	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13611	340730	22	17596178	T	C	337449	Benign	Familial_Candidiasis,_Recessive	.	.	0.61861	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13612	340732	22	17596229	T	C	347061	Benign	Familial_Candidiasis,_Recessive	.	.	0.19709	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13613	340736	22	17596388	G	C	351104	Benign	Familial_Candidiasis,_Recessive	.	.	0.83686	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13614	402526	22	17662699	A	G	390468	Benign	not_specified	0.29886	0.25683	0.1873	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13615	402527	22	17662793	A	G	390370	Benign	not_specified	0.30209	0.25647	0.19189	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13616	402528	22	17662917	G	C	390485	Benign	not_specified	0.29225	.	0.1863	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13617	402529	22	17690409	G	A	390469	Benign	not_specified	0.44956	0.4341	0.3113	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13618	340749	22	18560825	A	G	352137	Likely_benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.05831	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13619	340761	22	18571008	G	A	347074	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	0.6133	0.42272	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13620	340772	22	18571670	A	G	352140	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.99581	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13621	340780	22	18571828	T	C	352142	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.8734	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13622	340786	22	18572106	T	A	351137	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.42312	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13623	340788	22	18572371	C	CTTGG	347084	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13624	340795	22	18572499	T	TCTCA	351141	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13625	340803	22	18572892	A	G	347095	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.8734	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13626	340807	22	18573122	T	C	351144	Benign	Peroxisome_biogenesis_disorder_1A_(Zellweger)	.	.	0.99601	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13627	127267	22	18900750	G	A	132724	Uncertain_significance	not_provided	0.7588	0.789	0.76338	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13628	384743	22	19752609	C	T	377376	Benign/Likely_benign	not_specified|not_provided	0.00062	0.00091	0.001	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13629	263369	22	19868218	A	G	259118	Benign	not_specified|Cardiovascular_phenotype	0.7961	0.70124	0.71825	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13630	678647	22	19882630	G	A	670774	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13631	263411	22	19882984	T	G	259130	Benign	not_specified|Cardiovascular_phenotype	0.27088	0.18788	0.2512	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13632	384718	22	19885548	G	T	378611	Benign	not_specified	0.24279	0.24214	0.24221	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13633	678646	22	19886797	G	A	670531	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13634	678039	22	19898837	A	G	670535	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13635	678639	22	19902896	C	T	670540	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13636	678090	22	19905802	G	A	670779	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13637	684049	22	19906096	C	T	670782	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13638	678085	22	19906256	G	A	670554	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13639	678638	22	19906306	C	G	670565	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13640	263409	22	19906511	G	A	259140	Benign	not_specified|Cardiovascular_phenotype	0.21131	0.14627	0.16813	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13641	263343	22	19907099	C	A	259137	Benign	not_specified|Cardiovascular_phenotype	0.29557	0.44449	0.48303	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13642	263370	22	19907118	G	A	259134	Benign	not_specified|Cardiovascular_phenotype	0.45377	0.56488	0.59684	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13643	678637	22	19907192	A	G	670556	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13644	678660	22	19907346	T	C	669526	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13645	225950	22	19929027	C	T	227810	drug_response	Selective_serotonin_reuptake_inhibitors_respon...	.	.	0.07728	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13646	678640	22	19929551	A	G	670792	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13647	256785	22	19950235	C	T	257574	Benign	not_specified	0.46009	0.46797	0.37161	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13648	256786	22	19951207	C	G	257575	Benign	not_specified	0.32754	0.33917	0.29693	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13649	17591	22	19951271	G	A	32630	drug_response	CATECHOL-O-METHYLTRANSFERASE_POLYMORPHISM|meth...	.	0.47275	0.36921	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13650	256784	22	19956262	G	GC	257576	Benign	not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13651	684137	22	20024174	A	G	670569	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13652	672145	22	20031102	G	A	669544	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13653	684139	22	20049340	T	C	670568	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13654	684147	22	20049454	A	G	670799	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13655	518324	22	20779768	G	C	508939	Benign	Marden_Walker_like_syndrome	0.6539	0.58141	0.53455	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13656	518325	22	20779822	G	C	508940	Benign	Marden_Walker_like_syndrome	0.28769	.	0.24221	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13657	340826	22	21213380	C	T	352170	Benign	Cerebral_dysgenesis,_neuropathy,_ichthyosis,_a...	0.48199	0.54728	0.46386	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13658	340830	22	21213416	A	G	337552	Benign	Cerebral_dysgenesis,_neuropathy,_ichthyosis,_a...	0.41655	0.53581	0.40355	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13659	340874	22	21244235	G	GT	352211	Uncertain_significance	Cerebral_dysgenesis,_neuropathy,_ichthyosis,_a...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13660	561399	22	21336501	G	C	553053	Benign	not_provided	.	.	0.98942	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13661	561409	22	21337266	G	A	553057	Benign	not_provided	0.37214	0.4203	0.35743	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13662	561529	22	21342169	G	C	553062	Benign	not_provided	.	.	0.55112	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13663	561840	22	21342811	C	T	553064	Benign	not_provided	.	.	0.45787	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13664	561426	22	21344055	A	G	553071	Likely_benign	not_provided	.	.	0.05232	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13665	561410	22	21344592	A	C	553073	Benign	not_provided	.	.	0.42871	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13666	561411	22	21344884	C	T	553076	Benign	not_provided	.	.	0.1875	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13667	561412	22	21344905	A	G	553077	Benign	not_provided	.	.	0.71206	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13668	561413	22	21344920	G	C	553078	Benign	not_provided	.	.	0.41374	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13669	561664	22	21345000	C	T	553080	Likely_benign	not_provided	.	.	0.05351	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13670	561931	22	21345613	G	C	553081	Likely_benign	not_provided	.	.	0.05491	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13671	561582	22	21346277	C	T	553086	Benign	not_provided	.	.	0.1857	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13672	379413	22	21346485	T	C	378633	Benign	not_provided	0.7312	0.70703	0.64397	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13673	561414	22	21346719	A	C	553088	Benign	not_provided	.	.	0.59165	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13674	561427	22	21347029	G	A	553089	Likely_benign	not_provided	.	.	0.05371	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13675	561667	22	21347349	G	A	553092	Likely_benign	not_provided	.	.	0.05272	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13676	561668	22	21347410	G	T	553094	Likely_benign	not_provided	.	.	0.05212	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13677	561841	22	21347505	C	T	553095	Benign	not_provided	.	.	0.85044	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13678	561415	22	21348084	T	C	553097	Benign	not_provided	0.77989	0.75341	0.74301	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13679	561428	22	21348101	G	A	553098	Likely_benign	not_provided	.	.	0.05092	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13680	561418	22	21349037	A	G	553102	Benign	not_provided	0.80308	.	0.7522	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13681	561669	22	21349480	A	G	553106	Likely_benign	not_provided	.	.	0.05172	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13682	561419	22	21350461	A	G	553111	Benign	not_provided	.	.	0.75439	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13683	561421	22	21350936	G	A	553113	Benign	not_provided	0.31639	0.29128	0.20867	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13684	769153	22	23652503	T	C	778692	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13685	379953	22	24108412	G	A	378642	Benign	Spinal_muscular_atrophy,_jokela_type|not_speci...	0.80501	.	0.72983	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13686	379952	22	24109550	T	C	378643	Benign	not_specified	0.92385	0.87888	0.87101	1|1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13687	379951	22	24109774	T	G	377411	Benign	not_specified	.	0.82171	0.8758	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13688	684097	22	24129005	T	G	670574	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13689	684098	22	24134394	T	C	669573	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13690	133392	22	24143502	C	G	137131	not_provided	not_specified	.	0.79394	0.71166	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13691	677098	22	24145727	C	T	670805	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13692	677102	22	24159307	A	T	670813	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13693	803646	22	24717850	A	G	792021	Benign	Hypertelorism,_Teebi_type	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13694	803647	22	24761467	G	A	792022	Benign	Hypertelorism,_Teebi_type	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13695	225974	22	24825511	C	T	227811	drug_response	caffeine_response_-_Toxicity/ADR	.	.	0.40056	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13696	100154	22	24891292	C	G	106031	Benign	Deficiency_of_beta-ureidopropionase|not_provided	.	.	0.53275	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13697	340947	22	25597331	T	C	347213	Benign	Congenital_nuclear_cataract|not_provided	0.61164	.	0.65495	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13698	259229	22	25601196	C	G	257578	Benign	Congenital_nuclear_cataract|not_specified|not_...	0.57543	0.65576	0.66414	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13699	340965	22	26847586	G	T	351236	Benign	Hermansky-Pudlak_syndrome	.	.	0.85583	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13700	163670	22	26853905	C	A	176369	Benign	Hermansky-Pudlak_syndrome|not_specified	0.86852	0.88193	0.82728	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13701	261533	22	26853980	T	C	257585	Benign	not_specified	0.88831	0.90162	0.85284	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13702	163671	22	26854441	G	A	176247	Benign	Hermansky-Pudlak_syndrome|not_specified	0.86891	0.88177	0.82748	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13703	163672	22	26859942	C	T	176370	Benign	Hermansky-Pudlak_syndrome|not_specified	0.82047	.	0.79313	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13704	163673	22	26860269	G	C	176248	Benign	Hermansky-Pudlak_syndrome|not_specified	0.37806	0.38292	0.35423	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13705	261538	22	26861545	A	G	257588	Benign	not_specified	0.83923	0.86742	0.81849	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13706	261537	22	26862153	C	A	257589	Benign	not_specified	.	0.8487	0.79074	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13707	163674	22	26862212	T	C	176371	Benign	Hermansky-Pudlak_syndrome|not_specified	0.82054	0.84868	0.79313	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13708	341028	22	26877981	G	A	352322	Benign	Hermansky-Pudlak_syndrome	.	.	0.78954	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13709	341029	22	26878024	A	G	337688	Benign	Hermansky-Pudlak_syndrome	.	.	0.86681	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13710	341033	22	26879691	T	C	347260	Likely_benign	Hermansky-Pudlak_syndrome	.	.	0.0649	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13711	341040	22	26879823	C	A	347269	Benign	Hermansky-Pudlak_syndrome	.	0.8313	0.78954	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13712	677163	22	27019128	C	T	669609	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13713	667637	22	27021189	A	G	669612	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13714	677231	22	27021401	G	A	669615	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13715	258486	22	27021425	A	G	257592	Benign	not_specified|not_provided	0.57128	0.51492	0.58826	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13716	258487	22	27021457	T	C	257593	Benign	not_specified|not_provided	0.87337	0.89265	0.92372	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13717	674008	22	27024504	C	T	670609	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13718	723108	22	28379016	C	T	742837	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13719	522277	22	29885567	A	AAAGTCCCCTGAGAAGGCC	512967	Benign	Amyotrophic_lateral_sclerosis_type_1|not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13720	66743	22	29886413	A	G	77640	Benign	Amyotrophic_lateral_sclerosis_type_1|not_provided	0.80086	0.81898	0.85044	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13721	683799	22	29999236	G	C	670593	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13722	341065	22	29999784	C	A	337721	Benign	Neurofibromatosis,_type_2|not_provided	.	.	0.35184	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13723	341066	22	29999878	G	C	352335	Benign	Neurofibromatosis,_type_2	.	.	0.87021	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13724	676985	22	30034994	G	T	670831	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13725	676986	22	30054024	G	A	670626	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13726	676987	22	30056945	G	A	670628	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13727	676988	22	30057574	A	G	670596	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13728	676989	22	30064117	C	T	669628	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13729	683803	22	30064731	A	G	669630	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13730	803676	22	30077361	G	A	792051	Benign	Neurofibromatosis,_type_2	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13731	676991	22	30079213	T	C	670599	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13732	341131	22	30092813	G	GT	351324	Benign	Neurofibromatosis,_type_2	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13733	341149	22	30093259	C	G	347385	Benign	Neurofibromatosis,_type_2	.	.	0.26298	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13734	341157	22	30093667	T	C	352370	Benign	Neurofibromatosis,_type_2	.	.	0.26538	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13735	369375	22	31003069	C	T	353604	Likely_benign	Transcobalamin_II_deficiency	.	.	0.10503	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13736	341183	22	31003138	A	G	352382	Benign	Transcobalamin_II_deficiency	.	.	0.55451	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13737	97	22	31011610	G	C	15136	Benign	TRANSCOBALAMIN_II_POLYMORPHISM|Transcobalamin_...	.	.	0.57967	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation/97
13738	341219	22	31022635	C	T	347426	Likely_benign	Transcobalamin_II_deficiency	.	.	0.06749	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13739	257661	22	32266603	A	G	257607	Benign	Seizures|Epilepsy,_familial_focal,_with_variab...	0.02357	0.02173	0.02037	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13740	341275	22	32506906	C	T	352408	Benign	Congenital_glucose-galactose_malabsorption	.	.	0.58826	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13741	341296	22	32508457	A	G	351413	Benign	Congenital_glucose-galactose_malabsorption	.	.	0.96366	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13742	341299	22	32870769	C	T	352418	Benign	Parkinson_Disease,_Recessive	.	.	0.53834	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13743	195275	22	32875190	G	A	192436	Benign	Parkinson_disease_15|not_specified|Parkinson_D...	0.37229	0.44003	0.48742	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13744	341314	22	32887150	C	T	347523	Benign	Parkinson_disease_15|Parkinson_Disease,_Recessive	0.37221	0.43995	0.48762	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13745	341328	22	33197074	A	G	352436	Benign	Pseudoinflammatory_fundus_dystrophy	.	.	0.34185	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13746	255943	22	33253280	T	C	257609	Benign	Pseudoinflammatory_fundus_dystrophy|not_specified	0.61272	0.55181	0.65096	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13747	341374	22	33257163	G	GA	337929	Uncertain_significance	Pseudoinflammatory_fundus_dystrophy	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13748	683057	22	33733995	C	T	669642	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13749	683017	22	33960676	A	G	670859	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13750	683004	22	34000230	T	C	670621	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13751	684050	22	34157814	T	C	670896	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13752	666614	22	36661842	G	A	654927	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13753	341469	22	36677914	A	G	338008	Benign	MYH9-related_disorder|Nonsyndromic_Hearing_Los...	.	.	0.17812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13754	341475	22	36678118	C	T	338013	Benign	MYH9-related_disorder|Nonsyndromic_Hearing_Los...	.	.	0.22025	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13755	38967	22	36684354	T	C	47570	Benign	Macrothrombocytopenia_and_granulocyte_inclusio...	0.15554	0.25841	0.29413	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13756	44565	22	36684358	C	A	53732	Benign	MYH9-related_disorder|not_specified|Nonsyndrom...	0.15516	0.25815	0.29373	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13757	258745	22	36690113	G	A	257631	Benign	not_specified	0.63342	0.59165	0.48562	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13758	44559	22	36691607	A	C	53726	Benign	MYH9-related_disorder|not_specified|Nonsyndrom...	0.97124	.	0.98263	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13759	258730	22	36708049	CTCCTGTGA	C	257646	Benign	not_specified|not_provided	.	0.26282	0.30112	1/0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13760	44551	22	36708084	C	T	53718	Benign	MYH9-related_disorder|not_specified|Nonsyndrom...	0.7555	0.87139	0.76078	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13761	44550	22	36710183	T	C	53717	Benign	MYH9-related_disorder|not_specified|Nonsyndrom...	0.53468	0.56142	0.39357	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13762	198201	22	37267767	A	G	195362	Benign	not_specified	0.63278	0.70332	0.627	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13763	260308	22	37271882	T	C	257666	Benign	Chronic_granulomatous_disease|Granulomatous_di...	0.87006	0.83373	0.82808	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13764	262726	22	37462926	G	A	257669	Benign	Microcytic_anemia|not_specified	0.39005	0.36545	0.35603	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13765	262725	22	37462936	A	G	257670	Benign	Microcytic_anemia|not_specified	0.65862	.	0.60463	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13766	262724	22	37465385	CTGGGG	C	257671	Benign	Microcytic_anemia|not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13767	262722	22	37469591	G	A	257672	Benign	Microcytic_anemia|not_specified	0.60488	0.53902	0.54353	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13768	262719	22	37480797	C	T	257675	Benign	Microcytic_anemia|not_specified	0.34841	0.38267	0.3129	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13769	262728	22	37485724	T	C	257676	Benign	Microcytic_anemia|not_specified	0.39617	0.39793	0.39038	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13770	341606	22	37499692	A	G	352542	Benign	Microcytic_anemia	.	.	0.28474	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13771	369379	22	37499699	C	T	353608	Benign	Microcytic_anemia	.	.	0.31729	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13772	138864	22	37622815	A	G	142567	Benign	not_specified	0.22532	0.17026	0.2474	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13773	14472	22	37972628	G	A	29511	risk_factor	Myocardial_infarction	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13774	508110	22	38119213	G	A	508413	Benign	not_specified	0.54373	0.56966	0.52656	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13775	198447	22	38119754	TCAA	T	195608	Benign	Deafness,_autosomal_recessive_28|not_specified	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13776	508111	22	38121152	C	A	507585	Benign	not_specified	0.34641	0.39248	0.33626	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13777	516766	22	38122122	T	C	508147	Benign	not_specified	0.3501	0.39339	0.33666	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13778	286830	22	38122448	C	T	271067	Benign	not_specified	0.34194	0.44206	0.33666	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13779	286831	22	38122462	A	G	271068	Benign	not_specified	0.63105	0.7412	0.60104	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13780	43851	22	38129332	G	A	53020	Benign	not_specified	0.35026	0.38979	0.33726	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13781	43855	22	38130472	T	C	53024	Benign	not_specified	0.96474	0.9653	0.98263	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13782	257225	22	38161835	T	TG	257683	Benign	not_specified	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13783	341614	22	38369027	C	T	352544	Benign	Peripheral_demyelinating_neuropathy,_central_d...	.	.	0.60843	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13784	227081	22	38369976	A	G	231226	Benign	Peripheral_demyelinating_neuropathy,_central_d...	0.69583	0.65368	0.71326	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13785	670882	22	40757228	A	C	670672	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13786	678102	22	40759308	A	G	669684	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13787	341713	22	41325068	G	A	347823	Benign	Nephronophthisis-Like_Nephropathy	.	.	0.59465	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13788	93732	22	41537234	G	T	99635	Benign	Rubinstein-Taybi_syndrome_1|not_specified	.	0.98918	0.96166	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13789	93736	22	41548008	A	G	99639	Benign	Rubinstein-Taybi_syndrome_1|not_specified	0.20583	0.29593	0.22344	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13790	93738	22	41551039	T	A	99641	Benign	Rubinstein-Taybi_syndrome_1|not_specified	0.58312	0.65725	0.67392	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13791	93741	22	41566595	C	T	99644	Benign	not_specified	0.22813	0.30108	0.2484	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13792	93742	22	41569609	C	T	99645	Benign	not_specified	0.25815	0.30847	0.26418	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13793	158555	22	41574969	TGTA	T	169838	Benign	Rubinstein-Taybi_syndrome_1|not_specified	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13794	128256	22	41903813	A	C	133705	Benign	not_specified|not_provided	0.25796	0.32105	0.41833	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13795	128257	22	41911525	C	T	133706	Benign	not_specified|not_provided	0.38375	0.39927	0.27037	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13796	678096	22	41913844	A	G	670674	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13797	136263	22	41914593	C	T	139966	Benign	not_specified	0.32393	0.33711	0.48443	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13798	683113	22	41914860	T	G	669696	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13799	678097	22	41916001	C	G	669698	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13800	683142	22	41921665	A	G	670678	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13801	678098	22	41923644	G	A	670682	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13802	341885	22	42454354	G	A	351725	Benign	Kanzaki_disease|Schindler_disease,_type_1	.	.	0.64756	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13803	341891	22	42454950	A	G	351735	Benign	Kanzaki_disease|Schindler_disease,_type_1	.	.	0.45947	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13804	198062	22	42461918	G	A	195223	Benign	Kanzaki_disease|Schindler_disease,_type_1|not_...	0.2322	0.17138	0.16813	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13805	682645	22	42463366	C	T	670696	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13806	682644	22	42463689	T	C	670919	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13807	196242	22	42463814	C	T	193403	Benign	Kanzaki_disease|Schindler_disease,_type_1|not_...	0.64255	0.6728	0.67692	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13808	341917	22	42466509	C	G	352623	Benign	Kanzaki_disease|Schindler_disease,_type_1|not_...	.	.	0.64237	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13809	684292	22	42466905	C	T	670700	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13810	682643	22	42466950	C	T	670651	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13811	682642	22	42466980	A	T	669700	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13812	516889	22	42522613	G	C	508193	Likely_benign	not_specified	0.40832	0.45556	0.40116	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13813	516890	22	42523943	A	G	508196	Likely_benign	not_specified	0.59955	0.65666	0.64078	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13814	16889	22	42524947	C	T	31928	drug_response	Debrisoquine,_poor_metabolism_of|not_specified...	0.15105	0.17076	0.09305	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13815	16893	22	42526694	G	A	31932	Likely_benign,_other	Debrisoquine,_poor_metabolism_of|not_specified...	.	0.24669	0.23802	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13816	403577	22	43447891	C	T	390488	Benign	not_specified	0.03575	.	0.01558	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13817	403579	22	43455531	C	T	390421	Benign	not_specified	0.23266	0.26067	0.14816	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13818	403580	22	43459846	G	A	390425	Benign	not_specified	0.23335	0.24809	0.14856	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13819	341943	22	44342116	A	G	348026	Likely_benign	Susceptibility_to_Nonalcoholic_Fatty_Liver_Dis...	0.68038	0.67781	0.78774	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13820	341949	22	44342325	C	T	348031	Likely_benign	Susceptibility_to_Nonalcoholic_Fatty_Liver_Dis...	.	.	0.24661	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13821	341954	22	44342941	T	TAA	338402	Likely_benign	Susceptibility_to_Nonalcoholic_Fatty_Liver_Dis...	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13822	341956	22	44343009	T	A	348034	Likely_benign	Susceptibility_to_Nonalcoholic_Fatty_Liver_Dis...	.	.	0.16494	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13823	341970	22	45683042	C	T	348048	Uncertain_significance	Renal_hypodysplasia/aplasia_1	8e-05	0.00014	0.0002	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13824	341974	22	45683246	C	T	338422	Benign/Likely_benign	Renal_hypodysplasia/aplasia_1	0.61187	0.69709	0.54812	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13825	341977	22	45683304	G	C	338423	Benign/Likely_benign	Renal_hypodysplasia/aplasia_1	0.78914	0.77882	0.77436	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13826	1290	22	46731689	G	T	16329	Benign	Deafness,_mitochondrial,_modifier_of|Liver_fai...	.	0.1967	0.10563	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13827	671698	22	46748310	T	C	670657	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13828	676432	22	46752080	G	C	670714	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13829	342028	22	46753179	G	A	348087	Benign	Liver_failure_acute_infantile	.	.	0.19329	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13830	342032	22	50297034	CCT	C	338484	Likely_benign	Congenital_disorder_of_glycosylation	.	0.11407	0.06649	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13831	342038	22	50297435	T	C	351793	Benign	Congenital_disorder_of_glycosylation	0.38093	0.2749	0.40216	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13832	96095	22	50297888	T	C	101989	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.09134	0.11215	0.09165	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13833	96102	22	50301476	T	C	101996	Benign	Congenital_disorder_of_glycosylation|not_speci...	0.38336	0.27037	0.40216	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13834	261688	22	50302850	A	G	257696	Benign	not_specified	0.38282	0.27044	0.40196	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13835	261687	22	50303515	A	C	257697	Benign	not_specified	0.25465	.	0.26538	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13836	96098	22	50303530	T	C	101992	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.25488	0.22372	0.26558	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13837	96099	22	50303533	C	G	101993	Benign/Likely_benign	Congenital_disorder_of_glycosylation|not_speci...	0.25488	0.22379	0.26558	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13838	96096	22	50307184	G	T	101990	Benign	not_specified	0.07935	0.09349	0.07029	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13839	342066	22	50311973	A	G	351806	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.2512	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13840	342067	22	50311989	AAC	A	338526	Likely_benign	Congenital_disorder_of_glycosylation	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13841	342068	22	50312035	C	T	352662	Likely_benign	Congenital_disorder_of_glycosylation	.	.	0.24481	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13842	770820	22	50315936	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C	778490	Benign	not_provided	.	.	.	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13843	262456	22	50499964	T	C	257699	Benign	Megalencephalic_leukoencephalopathy_with_subco...	0.22924	0.29742	0.28295	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13844	260573	22	50518723	A	G	257708	Benign	not_specified	0.946	0.95145	0.97364	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13845	342119	22	50524250	G	GC	348156	Benign	Megalencephalic_leukoencephalopathy_with_subco...	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13846	518327	22	50658053	A	G	508942	Benign	Microcephaly_and_chorioretinopathy,_autosomal_...	0.95948	0.96596	0.98243	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13847	518329	22	50664612	A	G	508944	Benign	Microcephaly_and_chorioretinopathy,_autosomal_...	0.82439	0.79119	0.85883	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13848	258881	22	50885775	A	G	257710	Benign	not_specified	0.52332	0.5176	0.501	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13849	139087	22	50962078	G	T	142790	Conflicting_interpretations_of_pathogenicity	Hepatic_failure,_early-onset,_and_neurologic_d...	0.00861	0.00584	0.0018	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13850	139086	22	50962208	T	G	142789	Benign	Hepatic_failure,_early-onset,_and_neurologic_d...	0.63509	0.63835	0.65555	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13851	139082	22	50962782	C	G	142785	Benign	Hepatic_failure,_early-onset,_and_neurologic_d...	0.63069	.	0.65156	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13852	139081	22	50963905	C	T	142784	Benign	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	0.14297	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13853	342130	22	50963965	C	G	351827	Benign	Hepatic_failure,_early-onset,_and_neurologic_d...	.	.	0.53395	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13854	130693	22	50964236	G	A	136139	Benign	Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_...	0.06836	.	0.14277	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13855	137878	22	50964255	C	T	141581	Benign/Likely_benign	Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_...	0.03784	0.05454	0.02376	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13856	130694	22	50964862	G	A	136140	Benign	Hepatic_failure,_early-onset,_and_neurologic_d...	0.63048	0.67213	0.53295	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13857	671618	22	50966914	T	C	670728	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13858	670262	22	50967269	A	G	669706	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13859	128729	22	51020668	C	A	134178	Benign	not_specified|Congenital_Muscular_Dystrophy,_C...	0.5694	0.70072	0.70328	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13860	668085	22	51021579	A	C	669723	Benign	not_provided	.	.	.	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13861	668084	22	51021599	C	T	669726	Benign	not_provided	.	.	.	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13862	342205	22	51062222	G	C	348215	Benign	Metachromatic_leukodystrophy	.	.	0.47624	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13863	342214	22	51062654	T	C	352699	Benign	Metachromatic_leukodystrophy	.	.	0.83486	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13864	342216	22	51062718	C	T	351896	Benign	Metachromatic_leukodystrophy	.	.	0.34904	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13865	342221	22	51062891	C	G	348232	Benign	Metachromatic_leukodystrophy	.	.	0.35104	0|1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13866	342227	22	51063233	A	T	351906	Likely_benign	Metachromatic_leukodystrophy	.	.	0.11362	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13867	93118	22	51063987	G	C	99025	Benign	not_specified|not_provided	0.74992	0.79769	0.81909	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13868	21184	22	51064039	G	C	34036	Benign	Metachromatic_leukodystrophy|not_specified|not...	0.48408	0.48431	0.40555	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13869	672054	22	51066921	G	A	670684	Benign	not_provided	.	.	.	1|0	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13870	403431	22	51117580	T	C	390489	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.47998	0.51155	0.34325	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13871	402335	22	51182485	A	G	390377	Benign	not_specified|not_provided	.	0.66127	0.63838	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13872	93092	X	591926	T	G	98999	Benign	not_specified|not_provided	0.96725	.	0.95868	1/1	HOM	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13873	265860	X	605654	A	AAG	260560	Uncertain_significance	Short_stature,_idiopathic,_X-linked	.	.	0.12212	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13874	178717	X	1422868	G	A	178252	Benign	not_specified	0.37983	0.3715	0.32662	0/1	HET	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13875	379979	X	2748253	G	C	380029	Benign	not_specified	0.92651	0.95768	0.91868	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13876	684112	X	2748421	G	A	670773	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13877	684114	X	2772398	T	G	670781	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13878	684117	X	2772792	C	T	669917	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13879	684124	X	2777560	A	G	671107	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13880	379982	X	2777985	C	T	379223	Benign	not_specified	0.60771	0.70164	0.57828	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13881	684126	X	2778322	G	A	669922	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13882	684129	X	2778433	C	G	670885	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13883	684131	X	2779330	T	C	671108	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13884	379983	X	2779570	A	G	378170	Benign	not_specified	0.5918	0.66782	0.57536	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13885	157730	X	2852951	G	A	167578	Benign	not_specified|not_provided	0.45809	0.62598	0.56583	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13886	157728	X	2856155	C	T	167576	Benign	Chondrodysplasia_punctata_1,_X-linked_recessiv...	0.49223	0.6593	0.57457	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13887	667510	X	2861459	G	C	669926	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13888	674716	X	2877835	G	A	671112	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13889	769169	X	3228653	G	C	706214	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13890	95987	X	5821786	G	A	101883	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.14276	0.11369	0.1208	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13891	255564	X	8503641	G	A	257885	Benign	not_specified	0.55193	0.56948	0.48185	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13892	673328	X	8504652	T	C	671095	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13893	255563	X	8504833	C	T	257886	Benign	not_specified	0.56357	0.59157	0.48821	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13894	667655	X	8508062	C	T	671188	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13895	129215	X	11133069	C	T	134661	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.02177	0.01838	0.00848	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13896	95614	X	12722616	C	G	101512	Benign	not_specified	0.99479	0.99285	0.99523	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13897	367968	X	13730787	G	C	338927	Benign	Spondyloepiphyseal_dysplasia	.	.	0.77298	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13898	367970	X	13731222	CA	C	338933	Benign	Spondyloepiphyseal_dysplasia	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13899	367978	X	13731569	C	CAAAAAAAA	348506	Benign	Spondyloepiphyseal_dysplasia	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13900	367981	X	13731696	C	G	352077	Benign	Spondyloepiphyseal_dysplasia	.	.	0.69669	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13901	41157	X	13752895	G	T	49579	Benign	Orofaciodigital_syndrome_I	.	.	0.37669	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13902	94370	X	13771576	A	G	100270	Benign	not_specified	0.23402	0.33612	0.38384	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13903	691313	X	14862279	T	C	678986	Likely_benign	Hypothyroidism,_central,_and_testicular_enlarg...	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13904	691312	X	14862289	A	G	678987	Likely_benign	Hypothyroidism,_central,_and_testicular_enlarg...	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13905	93467	X	14868806	A	G	99372	Benign	VACTERL_association_with_hydrocephalus|Hypothy...	0.55391	0.56376	0.43364	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13906	691303	X	14882553	T	G	678995	Likely_benign	Hypothyroidism,_central,_and_testicular_enlarg...	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13907	691297	X	14883948	G	A	679001	Likely_benign	Hypothyroidism,_central,_and_testicular_enlarg...	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13908	368036	X	14887147	C	G	352786	Benign	VACTERL_association_with_hydrocephalus|Hypothy...	.	.	0.52556	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13909	96644	X	17705850	C	CT	102537	Benign/Likely_benign	not_specified	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13910	136713	X	18638082	A	C	140416	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.03308	0.03976	0.01669	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13911	96546	X	23398214	T	C	102440	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.70709	0.59425	0.6355	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13912	128994	X	24073761	C	T	134440	Likely_benign	not_specified	0.50014	.	0.36318	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13913	368183	X	28605876	GT	G	352823	Benign	Non-syndromic_X-linked_intellectual_disability	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13914	680543	X	31198204	A	G	670807	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13915	94854	X	31224684	A	G	100754	Benign/Likely_benign	Dilated_cardiomyopathy_3B|not_specified	0.82647	0.88361	0.80397	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13916	671240	X	31224881	G	A	671117	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13917	672561	X	31224994	A	G	670811	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13918	678092	X	31225071	A	G	669960	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13919	678473	X	31225080	G	GAA	669963	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13920	680541	X	31225499	A	G	671119	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13921	680544	X	31240905	C	A	671121	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13922	672560	X	31241026	A	G	670823	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13923	671291	X	31279271	T	C	669971	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13924	680538	X	31332258	C	A	671123	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13925	680536	X	31332294	C	T	671124	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13926	166667	X	31496350	C	T	177478	Benign	Duchenne_muscular_dystrophy|not_specified	0.95682	0.90452	0.88185	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13927	94783	X	31676096	G	A	100683	Benign/Likely_benign	Dilated_cardiomyopathy_3B|not_specified	0.33889	0.33978	0.32848	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13928	679287	X	31792559	G	A	670940	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13929	672525	X	31838359	T	G	670949	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13930	674303	X	31893149	C	G	670951	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13931	671088	X	31897253	G	A	670832	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13932	439609	X	31986430	C	A	433498	Benign	not_specified|not_provided	0.26372	0.32935	0.32901	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13933	671238	X	31986774	C	T	669996	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13934	672522	X	32328572	C	T	670967	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13935	679286	X	32363822	C	T	670980	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13936	94657	X	32380996	C	T	100557	Benign/Likely_benign	Duchenne_muscular_dystrophy|Dilated_cardiomyop...	0.33311	0.51417	0.46517	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13937	671085	X	32383034	C	T	670009	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13938	672517	X	32383469	C	T	671134	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13939	672488	X	32536452	A	G	670865	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13940	680537	X	32562998	T	C	670867	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13941	679284	X	32563054	C	T	670039	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13942	94495	X	32563263	A	G	100395	Benign/Likely_benign	Dilated_cardiomyopathy_3B|not_specified	0.32472	0.32035	0.41219	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13943	671082	X	32614103	C	T	670874	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13944	671081	X	32614116	C	A	671141	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13945	680546	X	32614247	A	G	670046	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13946	680545	X	32632856	A	G	671024	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13947	674341	X	32662122	C	T	671143	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13948	671236	X	32827465	A	G	670883	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13949	678471	X	33192255	G	A	670061	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13950	98793	X	38170067	A	G	104683	Likely_benign	not_specified|not_provided	0.03778	0.01873	0.04132	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13951	92856	X	38182792	C	T	98763	Benign	not_specified	0.21044	0.22818	0.37192	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13952	680701	X	38262566	A	G	671038	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13953	676164	X	38262808	G	A	671150	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13954	680703	X	38272193	T	C	670065	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13955	95772	X	39911657	C	A	101669	Benign	Oculofaciocardiodental_syndrome|History_of_neu...	0.19072	0.15765	0.13669	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13956	668777	X	40447956	T	TTTTG	670927	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13957	680088	X	41412729	T	C	671054	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13958	668858	X	41448495	G	T	670096	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13959	368312	X	46740032	G	A	352863	Benign	Retinitis_pigmentosa_15	.	.	0.98358	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13960	368331	X	47061018	C	G	352254	Benign	Spinal_muscular_atrophy,_X-linked_2|not_specif...	0.98921	.	0.97113	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13961	368382	X	47327111	T	C	352264	Benign	Non-syndromic_X-linked_intellectual_disability	.	.	0.77934	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13962	720215	X	47446041	G	A	729615	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13963	96364	X	47466361	A	G	102258	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.39828	0.38082	0.36874	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13964	402535	X	47483800	G	A	390437	Benign	not_specified	0.23819	0.22872	0.20689	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13965	158531	X	48382174	G	T	170112	Benign	not_specified	0.29272	.	0.31523	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13966	95309	X	48759204	C	T	101208	Benign	Renpenning_syndrome_1|History_of_neurodevelopm...	0.57361	0.61238	0.62543	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13967	197791	X	48935284	C	A	194952	Benign	not_specified	0.04382	0.08107	0.01748	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13968	166778	X	49075777	C	T	177540	Benign/Likely_benign	not_specified|not_provided	0.04365	0.05281	0.01881	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13969	284920	X	49105610	T	C	269157	Benign	not_specified	0.52382	0.55627	0.47523	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13970	804001	X	49767835	A	G	792471	Benign	Dent_disease_1	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13971	95973	X	50350674	T	C	101869	Benign	not_specified	0.31052	.	0.29987	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13972	95971	X	50350728	T	TTCC	101867	Benign	not_specified	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13973	94872	X	53228148	C	A	100772	Benign	not_specified	0.78292	0.89198	0.73033	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13974	683643	X	53278322	T	C	671165	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13975	95364	X	53449568	G	A	101263	Benign	not_specified|Cornelia_de_Lange_Syndrome	0.40604	0.51629	0.39841	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13976	96203	X	53563589	A	G	102097	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.99195	0.99734	0.99497	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13977	129253	X	53641647	T	C	134699	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.37792	0.48955	0.38967	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13978	96550	X	57474943	A	T	102443	Benign	not_specified	0.90419	0.97372	0.91444	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13979	667774	X	67431814	A	G	671077	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13980	667771	X	67432299	C	T	671168	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13981	667769	X	67652513	A	G	670134	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13982	44207	X	69250308	C	T	53374	Benign	not_specified	0.3079	0.34418	0.22172	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13983	287265	X	69672462	G	C	271502	Benign	not_specified	0.26653	0.33432	0.34676	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13984	670932	X	70338399	A	G	670962	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13985	259633	X	70339498	C	T	257867	Benign/Likely_benign	not_specified|not_provided	0.23135	0.23317	0.11126	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13986	683968	X	70340322	C	G	670964	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13987	674293	X	70340738	A	G	671170	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13988	95257	X	70341169	A	C	101156	Benign	not_specified|not_provided	0.23677	0.22298	0.11417	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13989	674530	X	70342820	A	G	670970	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13990	673346	X	70343621	A	G	671172	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13991	674295	X	70344331	G	C	671173	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13992	673347	X	70344763	G	T	671078	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13993	674531	X	70345683	T	G	670973	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13994	674532	X	70348344	G	A	670976	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13995	95248	X	70349947	A	C	101147	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.22591	0.24611	0.11099	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13996	259637	X	70352417	T	C	257871	Benign	not_specified|not_provided	0.23861	0.23837	0.11815	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13997	674533	X	70352516	A	G	671174	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13998	674534	X	70355258	CTT	C	670982	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
13999	683154	X	70355882	A	T	670983	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14000	673789	X	70355942	G	C	671175	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14001	673790	X	70356642	T	C	670148	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14002	673791	X	70361608	T	C	670986	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14003	673349	X	70361967	G	A	671081	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14004	667467	X	73740502	T	C	670162	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14005	159903	X	73749319	T	G	170185	Likely_benign	not_specified	0.59001	0.60577	0.34384	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14006	678099	X	77166449	T	C	671086	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14007	92384	X	77298857	G	A	98295	Benign	Menkes_kinky-hair_syndrome|History_of_neurodev...	.	1	1	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14008	368680	X	79925246	A	G	352952	Benign	Non-syndromic_X-linked_intellectual_disability	.	.	0.52106	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14009	368720	X	79931831	CGTGT	C	339605	Benign	Non-syndromic_X-linked_intellectual_disability	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14010	281080	X	79943569	T	C	265317	Benign	not_specified	0.99025	0.9972	0.98967	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14011	811240	X	82764040	AGG	GGC	800324	Benign	Deafness,_X-linked_2	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14012	130847	X	84501033	C	T	136291	Benign	Non-syndromic_X-linked_intellectual_disability...	.	.	0.23364	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14013	368751	X	84526987	A	G	339626	Benign	Non-syndromic_X-linked_intellectual_disability	.	.	0.23311	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14014	368755	X	84527466	A	G	349119	Benign	Premature_ovarian_failure_2b|Non-syndromic_X-l...	.	.	0.23338	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14015	368762	X	84532801	C	T	352978	Benign	Premature_ovarian_failure_2b|Non-syndromic_X-l...	.	.	0.23311	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14016	368763	X	84532996	T	G	352979	Benign	Premature_ovarian_failure_2b|Non-syndromic_X-l...	.	.	0.23391	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14017	368767	X	84533408	G	T	352466	Benign	Premature_ovarian_failure_2b	.	.	0.23417	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14018	368771	X	84533758	A	G	352983	Benign	Premature_ovarian_failure_2b	.	.	0.13589	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14019	368776	X	84534115	T	G	352985	Benign	Premature_ovarian_failure_2b	.	.	0.23391	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14020	368780	X	84534383	A	C	339631	Benign	Premature_ovarian_failure_2b	0.99412	0.62123	0.98861	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14021	368787	X	84563135	T	A	352472	Benign	Premature_ovarian_failure_2b	0.83054	0.853	0.91205	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14022	670593	X	99665285	G	A	670946	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14023	670592	X	99665333	C	G	669731	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14024	670790	X	99919733	G	A	670948	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14025	667526	X	99920975	G	A	670691	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14026	691856	X	102436640	T	C	679561	Benign	not_specified	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14027	691854	X	103036909	AG	A	679563	Benign	not_specified	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14028	670482	X	103040400	T	C	669752	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14029	258270	X	107418906	A	G	257731	Benign	not_specified	0.98305	0.99511	0.98384	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14030	258267	X	107433688	A	G	257734	Benign	not_specified	0.74259	0.68513	0.57325	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14031	369632	X	110464173	CA	C	353861	Benign	Non-syndromic_X-linked_intellectual_disability	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14032	238289	X	110963338	T	C	243731	Benign	History_of_neurodevelopmental_disorder|Epilept...	0.01305	0.01862	0.0053	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14033	676336	X	113818582	G	C	656729	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14034	9885	X	113965735	G	C	24924	Benign	SEROTONIN_5-HT-2C_RECEPTOR_POLYMORPHISM|not_pr...	.	0.15437	0.16583	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14035	684056	X	118972782	A	G	670784	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14036	673765	X	118977332	A	G	670789	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14037	670475	X	118985598	C	T	670985	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14038	684051	X	118987177	T	C	670993	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14039	367743	X	119560599	T	C	351990	Likely_benign	Hypertrophic_cardiomyopathy|Danon_disease	.	.	0.70967	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14040	679266	X	119691591	T	C	669829	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14041	367863	X	123047453	T	A	348434	Benign	Lymphoproliferative_syndrome	.	0.04183	0.02172	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14042	367875	X	123505439	GA	G	348443	Benign	Lymphoproliferative_syndrome	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14043	367885	X	123506562	A	G	352057	Benign	Lymphoproliferative_syndrome	.	.	0.18861	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14044	804084	X	128674631	T	TG	792121	Benign	Lowe_syndrome	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14045	11567	X	128870791	C	A	26606	risk_factor	Angioedema_induced_by_ACE_inhibitors,_suscepti...	.	.	0.23099	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14046	197828	X	128957640	T	C	194989	Benign	not_specified	0.93297	0.90696	0.80053	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14047	683838	X	129265394	A	G	670718	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14048	677968	X	129269780	G	C	670721	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14049	367892	X	129283520	A	G	352059	Benign	Deafness,_X-linked_5|Combined_oxidative_phosph...	0.5098	0.43294	0.49113	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14050	677967	X	129283786	A	G	670810	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14051	257593	X	130416958	C	T	257749	Benign	Hypothyroidism,_central,_and_testicular_enlarg...	0.8882	0.96828	0.90623	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14052	670935	X	133511988	G	A	670725	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14053	94028	X	148055144	A	G	99930	Benign	not_specified	0.93506	0.98291	0.95417	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14054	92619	X	148582549	G	A	98527	Benign	Mucopolysaccharidosis,_MPS-II|History_of_neuro...	0.34308	0.27831	0.19258	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14055	159450	X	152018832	T	G	170076	Benign	not_specified	0.8207	0.87637	0.86146	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14056	518408	X	152807923	G	C	508950	Benign	Spinocerebellar_ataxia,_X-linked_1	0.99025	0.99696	0.98861	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14057	518409	X	152815089	A	G	508951	Benign	Spinocerebellar_ataxia,_X-linked_1	0.98949	0.99668	0.98543	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14058	518410	X	152821887	C	T	508952	Benign	Spinocerebellar_ataxia,_X-linked_1	0.94094	0.98221	0.9457	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14059	518411	X	152823728	G	C	508953	Benign	Spinocerebellar_ataxia,_X-linked_1	0.38938	0.5286	0.47391	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14060	518412	X	152825414	G	T	508954	Benign	Spinocerebellar_ataxia,_X-linked_1	0.85269	0.93166	0.88106	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14061	130355	X	152954025	A	G	135802	Benign	Creatine_deficiency,_X-linked|History_of_neuro...	.	1	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14062	439347	X	153008911	C	T	433335	Benign	not_specified	0.57527	0.65042	0.61351	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14063	166627	X	153008970	C	T	177456	Benign/Likely_benign	Adrenoleukodystrophy|History_of_neurodevelopme...	0.0128	.	0.01033	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14064	92313	X	153009197	G	C	98224	Benign	Adrenoleukodystrophy|History_of_neurodevelopme...	0.75885	0.71965	0.7404	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14065	368066	X	153010066	C	T	352124	Benign	Adrenoleukodystrophy	.	.	0.73113	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14066	368067	X	153010083	G	A	339037	Benign	Adrenoleukodystrophy	.	.	0.45987	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14067	369635	X	153010224	C	T	353864	Benign	Adrenoleukodystrophy	.	.	0.73854	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14068	804115	X	153151280	G	GCC	792154	Benign	X-linked_hydrocephalus_syndrome	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14069	804116	X	153151284	GT	G	792155	Benign	X-linked_hydrocephalus_syndrome	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14070	804117	X	153151423	G	GCGGC	792156	Likely_benign	X-linked_hydrocephalus_syndrome	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14071	254772	X	153170980	T	G	257778	Benign/Likely_benign	Nephrogenic_diabetes_insipidus|Nephrogenic_dia...	.	0.9993	0.99921	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14072	402391	X	153176254	A	G	390496	Benign	not_specified	0.55798	0.59133	0.7049	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14073	95281	X	153215839	G	A	101180	Benign	not_specified	0.4393	0.43199	0.19126	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14074	156056	X	153297392	A	G	165852	Benign	not_specified|not_provided	.	.	0.63046	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14075	167075	X	153577722	T	C	177710	Benign/Likely_benign	Connective_tissue_disorder|not_specified|not_p...	0.00072	0.00055	0.00053	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14076	670955	X	153579448	A	G	669893	Benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14077	95327	X	153629155	A	G	101226	Benign	History_of_neurodevelopmental_disorder|not_spe...	.	0.82608	0.66887	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14078	368091	X	153649813	G	C	352797	Benign	Endocardial_fibroelastosis|Left_ventricular_no...	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14079	129149	X	153667176	T	C	134595	Benign	History_of_neurodevelopmental_disorder|not_spe...	0.30976	0.18882	0.29086	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14080	726401	X	153694535	G	C	743254	Likely_benign	not_provided	.	.	.	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14081	368096	X	153759858	T	C	352799	Likely_benign	Glucose_6_phosphate_dehydrogenase_deficiency	.	.	0.41536	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14082	93494	X	153760508	A	G	99399	Benign/Likely_benign	Glucose_6_phosphate_dehydrogenase_deficiency|n...	0.39235	0.25439	0.41483	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14083	166994	X	153994596	G	T	177673	Benign/Likely_benign	Dyskeratosis_congenita_X-linked|not_specified	0.99186	0.99744	0.99258	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14084	368105	X	154064200	C	T	339078	Benign	Hemophilia_A,_FVIII_Deficiency	.	.	0.55603	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14085	368133	X	154488432	G	A	339086	Benign	Non-syndromic_X-linked_intellectual_disability	.	.	0.40397	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...
14086	93695	X	154507173	T	G	99598	Benign	not_specified	0.35151	0.28438	0.35417	1	.	https://www.ncbi.nlm.nih.gov/clinvar/variation...