Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES896	WT	HH	HZ	NC
chr1	1020239	1020239	G	C	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon1:c.G67C:p.V23L	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	14	1448	54	6	0	66	0.0222822	.	.	.	206690	not_specified|not_provided|Congenital_myasthenic_syndrome_8|AGRN-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	.	.	0.00878594	0.0348	0.0127	0.0641	0.0089	.	0.0123	0.0455	0.0432	0.0026067	403	154602	rs201073369	0.0071	0.0067	0.0062	0.0080	0.0319	0.0070	0.0069	0.0308	0.0303	0.0045	0.0019	0.0188	0.0010	0.0054	0.0164	0.0055	0.0088	0.0319	0.0067	0.0067	0.0066	0.0069	0.0311	0.0064	0.0062	0.0270	0.0255	0.0043	0	0.0031	0.0185	0.0048	0.0036	0.0034	0.0074	0.0086	0.0311	0.632	0.05121	T	0.192	0.28300	T	.	.	.	.	.	.	0.726910	0.09888	U	0.737577	1	0.08975	N	0.14	0.08730	N	-0.9	0.74896	T	-0.25	0.11008	N	0.053	0.02462	-0.9797	0.35071	T	0.184	0.53270	T	10	0.0018510222	0.00025	T	.	.	.	0.040	0.10527	.	.	.	.	0.18601286770968664	0.18519	0.422332236549	0.42733	0.913664937019	0.97804	D	.	.	.	-0.458053	0.01011	T	-0.40567	0.32724	T	0.00447011521354338	0.00048	T	0.49875	0.15541	T	.	.	.	.	.	.	.	.	-2.074	0.03474	T	.	.	0.079	0.07224	B	.	.	1.215538	0.16088	12.31	0.43474261126813984	0.03275	0.00656	0.02847	N	ALL	0.038155	0.05356	N	-1.10990126718945	0.06466	0.297743	-1.16109306244423	0.06570	0.316724	0.999999999973226	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	2.05	1.04	0.19220	0.455000	0.21555	0.558000	0.19484	0.458000	0.21545	0.002000	0.15269	0.988000	0.31051	0.789000	0.37270	0.142:0.0:0.858:0.0	7.971	0.29289	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016317	0.009259	0.009009	0.018519	0.000000	0.000000	0.000000	0.016393	0.1	455.14	36	chr1	1020239	.	G	C	455.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.602;DP=223;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.557;SOR=0.495	GT:AD:DP:GQ:PL	0/1:12,12:24:99:293,0,273	8	0	2	0
chr1	17027878	17027878	-	GAA	intronic	SDHB	.	.	.	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	53811	not_specified|not_provided|Carney-Stratakis_syndrome|Paragangliomas_4|Hereditary_cancer-predisposing_syndrome|Hereditary_pheochromocytoma-paraganglioma|Pheochromocytoma|Gastrointestinal_stromal_tumor	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0015	.	0.0012	0.0006	0.0019	0.0003	0.0002	0.0011	0	0.0020	0.0003458	9	26028	rs386134266	0.0008	0.0009	0.0007	0.0008	0.0023	0.0007	0.0007	0.0014	0.0013	0.0005	0.0016	0.0002	0.0002	0.0002	0.0023	0.0007	0.0009	0.0017	0.0012	0.0012	0.0013	0.0011	0.0025	0.0010	0.0010	0.0014	0.0011	0.0007	0.0176	0.0011	0.0003	0.0004	0.0002	0.0034	0.0015	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1834.39	34	chr1	17027878	.	G	GGAA	1834.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=452;ExcessHet=0;FS=0.718;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=0.407;SOR=0.582	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1846,0,2408	9	0	1	0
chr1	18877457	18877457	C	T	exonic	ALDH4A1	.	nonsynonymous SNV	ALDH4A1:NM_001161504:exon10:c.G916A:p.G306R,ALDH4A1:NM_001319218:exon10:c.G1096A:p.G366R,ALDH4A1:NM_003748:exon10:c.G1096A:p.G366R,ALDH4A1:NM_170726:exon10:c.G1096A:p.G366R	Hyperprolinemia, type II, Autosomal recessive	0	1453	65	4	0	73	0.0245049	.	.	.	690430	not_provided|Hyperprolinemia_type_2	MedGen:C3661900|MONDO:MONDO:0009401,MedGen:C2931835,OMIM:239510,Orphanet:79101	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	.	0.001	0.00179712	0.0075	0.0005	0.0055	0	0.0012	0.0062	0.0065	0.0170	0.0027813	430	154602	rs41306567	0.0022	0.0022	0.0018	0.0026	0.0133	0.0021	0.0021	0.0127	0.0124	0.0004	0.0016	0.0032	2.573e-05	0.0001	0.0094	0.0015	0.0027	0.0133	0.0017	0.0017	0.0014	0.0020	0.0110	0.0015	0.0015	0.0086	0.0078	0.0004	0	0.0029	0.0014	0	0	0.0102	0.0020	0.0028	0.0110	0.133	0.26409	T	0.135	0.36901	T	0.001	0.07471	B	0.009	0.14300	B	0.663870	0.10403	N	0.849423	0.791045	0.34620	D	0.155	0.08919	N	1.59	0.28836	T	0.42	0.05503	N	0.32	0.38027	-1.0269	0.21462	T	0.044	0.18742	T	10	0.007830828	0.00178	T	.	.	.	0.038	0.09825	0.412	0.44887	0.262662153117	0.25859	0.688120731099813	0.68752	0.164871079818	0.18598	0.291973412037	0.09209	T	0.055247	0.29952	T	-0.505176	0.00534	T	-0.487396	0.23664	T	0.0081906171203606	0.00098	T	0.831217	0.49813	T	0.22828704	0.45545	0.15461615	0.36279	0.23813418	0.46687	0.12986113	0.31215	-3.624	0.35202	T	.	.	0.141	0.30971	B	.;.;.;.	.;.;.;.	2.596631	0.33695	19.42	0.98291500001102539	0.39954	0.80761	0.40317	D	AEFBI	0.355282	0.44707	N	-0.584069613298834	0.19427	1.016747	-0.409398648436248	0.24722	1.355339	0.17949397804824	0.17851	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.52	2.65	0.30588	1.723000	0.37675	2.747000	0.34506	-0.193000	0.09282	0.999000	0.42656	0.998000	0.33993	0.915000	0.45038	0.0:0.8248:0.0:0.1752	9.567	0.38570	952	0.10565	Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014691	0.010417	0.010899	0.020468	0.000000	0.008621	0.012270	0.026515	0.1	2835.14	65	chr1	18877457	.	C	T	2835.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.326;DP=620;ExcessHet=0.2348;FS=0.884;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.32;SOR=0.621	GT:AD:DP:GQ:PL	0/1:91,84:175:99:1833,0,2220	8	0	2	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	.	1310279	Neutrophil_inclusion_bodies|CDCA8-related_condition|not_specified	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	21220.9	153	chr1	37708311	.	TTTC	T	21220.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.353;DP=1240;ExcessHet=7.0302;FS=0.525;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=-0.13;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,76:170:99:.:.:2902,0,3706:.	3	0	7	0
chr1	43338669	43338669	G	A	exonic	MPL	.	nonsynonymous SNV	MPL:NM_005373:exon3:c.G340A:p.V114M	Myelofibrosis with myeloid metaplasia, somatic;Thrombocythemia 2, Autosomal dominant, Somatic mutation;Thrombocytopenia, congenital amegakaryocytic, Autosomal recessive	0	1388	129	5	0	139	0.0476844	.	.	YES	138564	Congenital_amegakaryocytic_thrombocytopenia|Essential_thrombocythemia|not_specified|not_provided|Congenital_amegakaryocytic_thrombocytopenia_1	MONDO:MONDO:0800451,MedGen:C1327915,OMIM:PS604498,Orphanet:3319|MONDO:MONDO:0005029,MeSH:D013920,MedGen:C0040028,Orphanet:3318|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0800452,MedGen:C5882667,OMIM:604498,Orphanet:3319	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.095	.	0.0238	0.0189696	0.0250	0.0060	0.0134	0.0001	0.0207	0.0326	0.0209	0.0296	0.025944	4011	154602	rs12731981	0.0299	0.0299	0.0298	0.0300	0.0336	0.0297	0.0296	0.0327	0.0326	0.0046	0.0158	0.0217	5.038e-05	0.0207	0.0336	0.0330	0.0264	0.0320	0.0223	0.0223	0.0230	0.0215	0.0331	0.0217	0.0214	0.0320	0.0315	0.0058	0.0088	0.0288	0.0236	0	0.0173	0.0510	0.0331	0.0227	0.0255	0.104	0.29959	T	0.083	0.41405	T	0.976	0.58310	D	0.814	0.58796	P	0.415345	0.12941	N	0.744185	1	0.08975	N	1.6	0.40776	L	-0.35	0.68616	T	-0.36	0.13035	N	0.063	0.03502	-0.9566	0.39807	T	0.073	0.29610	T	10	0.0022851825	0.00034	T	.	.	.	0.095	0.27398	.	.	.	.	0.5636965565776203	0.56296	0.206990812731	0.23137	0.376797676086	0.21801	T	0.438365	0.78405	T	-0.594466	0.00158	T	-0.597409	0.13030	T	0.00341688065353018	0.00036	T	0.720728	0.33361	T	0.03559366	0.04218	0.05093937	0.08096	0.030162007	0.02630	0.053430576	0.08996	-4.801	0.34603	T	0.14387682851808692	0.16393	0.111	0.21503	B	.;.	.;.	2.184092	0.27845	17.60	0.99616732279946874	0.75172	0.02254	0.06525	N	AEFBI	0.070114	0.13906	N	-0.414595527009078	0.24957	1.351313	-0.585913790722152	0.19860	1.06745	0.00437679508050892	0.10521	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.56	0.012	0.13411	0.037000	0.13728	0.541000	0.19334	-0.106000	0.15538	0.002000	0.15269	0.002000	0.18203	0.878000	0.41950	0.4046:0.1955:0.3999:0.0	4.814	0.12722	721	0.55360	Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding	.	.	.	.	rs12731981	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027694	0.040404	0.021739	0.008772	0.000000	0.034483	0.051829	0.030303	0.05	1556.43	33	chr1	43338669	.	G	A	1556.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=454;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.985;SOR=0.698	GT:AD:DP:GQ:PL	0/1:74,68:142:99:1568,0,1556	9	0	1	0
chr1	45340381	45340381	G	A	UTR5	MUTYH	NM_001293192:c.-7069C>T;NM_001350651:c.-7064C>T;NM_001048171:c.-5876C>T;NM_001128425:c.-127C>T;NM_012222:c.-127C>T;NM_001293190:c.-127C>T;NM_001350650:c.-7064C>T	.	.	Adenomas, multiple colorectal, Autosomal recessive;Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, Somatic mutation;Gastric cancer, somatic	0	1447	71	4	0	79	0.0265725	.	.	.	419304	Familial_adenomatous_polyposis_2|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0012041,MedGen:C3272841,OMIM:608456,Orphanet:220460,Orphanet:247798|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00938498	.	.	.	.	.	.	.	.	0.0044631	690	154602	rs3219466	0.0317	0.0312	0.0318	0.0316	0.0356	0.0314	0.0313	0.0353	0.0352	0.0051	0.0114	0.0272	5.569e-05	0.0251	0.0271	0.0356	0.0291	0.0195	0.0215	0.0215	0.0223	0.0207	0.0342	0.0209	0.0207	0.0330	0.0325	0.0059	0.0132	0.0153	0.0210	0.0004	0.0233	0.0238	0.0342	0.0232	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	713.43	34	chr1	45340381	.	G	A	713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=392;ExcessHet=0;FS=5.747;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.926;SOR=1.264	GT:AD:DP:GQ:PL	0/1:53,32:85:99:725,0,1249	9	0	1	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	53564.2	184	chr1	55057360	.	A	G	53564.2	.	AC=20;AF=1;AN=20;DP=1789;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=20;MLEAF=1;MQ=60;QD=30.77;SOR=0.741	GT:AD:DP:GQ:PL	1/1:0,146:146:99:4555,438,0	0	10	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	6690.94	39	chr1	89054646	.	GAAAAAC	G	6690.94	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.661;DP=417;ExcessHet=1.0516;FS=4.297;InbreedingCoeff=-0.0101;MLEAC=9;MLEAF=0.45;MQ=59.81;MQRankSum=0;QD=23.07;ReadPosRankSum=-0.045;SOR=0.967	GT:AD:DP:GQ:PL	0/1:33,19:52:99:698,0,1326	3	2	5	0
chr1	92478757	92478757	-	AGAGAGAGAG	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	281300	Neutropenia,_severe_congenital,_2,_autosomal_dominant|not_provided|GFI1-related_disorder|not_specified|Severe_congenital_neutropenia	MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004398	68	154602	rs371078453	0.0383	0.0466	0.0385	0.0382	0.0384	0.0381	0.0379	0.0381	0.0379	0.0280	0.0198	0.0545	0.0236	0.0686	0.0357	0.0384	0.0375	0.0355	0.0660	0.0711	0.0640	0.0681	0.0743	0.0648	0.0644	0.0725	0.0718	0.0426	0.1457	0.0415	0.1163	0.0581	0.1245	0.0551	0.0743	0.0632	0.0555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	6659.93	25	chr1	92478757	.	C	CAGAGAGAGAG	6659.93	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0;DP=441;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.0526;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=29.59;ReadPosRankSum=0;SOR=1.6	GT:AD:DP:GQ:PL	0/1:0,5:16:12:750,258,229	7	0	3	0
chr1	147758891	147758891	C	T	exonic	GJA5	.	synonymous SNV	GJA5:NM_005266:exon2:c.G348A:p.E116E,GJA5:NM_181703:exon2:c.G348A:p.E116E	Atrial fibrillation, familial, 11, Autosomal dominant;Atrial standstill, digenic (GJA5/SCN5A), Autosomal dominant	.	.	.	.	.	.	.	.	.	.	862181	Atrial_fibrillation,_familial,_11|Atrial_standstill_1	MONDO:MONDO:0013544,MedGen:C3279693,OMIM:614049|MONDO:MONDO:0007171,MedGen:C4551959,OMIM:108770,Orphanet:1344	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0002	0	0	0	0.0003	0.0003	0	0	0.0001617	25	154602	rs150168016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0	2.236e-05	0.0011	0	9.36e-05	0.0002	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	9.647e-05	0	0	0.0009	0	9.407e-05	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.05	2317.43	35	chr1	147758891	.	C	T	2317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.844;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-1.878;SOR=0.663	GT:AD:DP:GQ:PL	0/1:66,90:156:99:2329,0,1805	9	0	1	0
chr1	152312082	152312082	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2804C:p.G935A	Ichthyosis vulgaris, Autosomal dominant	0	1491	31	0	0	31	0.0102887	.	.	.	1195865	FLG-related_disorder|Ichthyosis_vulgaris|not_provided	.|MONDO:MONDO:0024304,MedGen:C0079584,OMIM:146700|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.000885805589783	0.0026	0.000599042	0.0028	0.0003	0.0020	0	0	0.0042	0.0099	0.0015	0.0024967	386	154602	rs150503113	0.0019	0.0019	0.0018	0.0020	0.0222	0.0019	0.0018	0.0191	0.0179	0.0005	0.0030	0.0278	0	0.0001	0.0222	0.0013	0.0043	0.0013	0.0024	0.0024	0.0025	0.0022	0.0048	0.0022	0.0021	0.0040	0.0036	0.0003	0.0022	0.0048	0.0355	0	9.425e-05	0.0238	0.0019	0.0052	0.0008	0.018	0.50676	D	.	.	.	0.204	0.29802	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	2.735	0.79925	M	4.76	0.01576	T	-1.68	0.40082	N	0.096	0.07673	-0.9383	0.42885	T	0.002	0.00769	T	9	0.005888641	0.00132	T	8.86E-4	0.00800	T	0.026	0.05648	.	.	0.117506650769	0.11410	0.013417229045876907	0.01299	.	.	0.255646705627	0.04385	T	0.02681	0.19761	T	-0.682628	0.00046	T	-0.757315	0.03210	T	0.00847852903289858	0.00103	T	0.534247	0.17838	T	0.077396624	0.17565	0.060455702	0.11514	0.077396624	0.17564	0.060455702	0.11514	-8.24	0.62694	D	.	.	0.145	0.31857	B	.	.	-0.570785	0.01653	0.116	0.58113512807442025	0.05920	0.01243	0.04382	N	AEFBI	0.032672	0.03735	N	-1.15039363912109	0.05773	0.2640714	-1.32093414333687	0.04160	0.1956355	2.03026426021431E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.81	-1.91	0.07225	-1.041000	0.03653	.	.	0.297000	0.18867	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3637:0.2118:0.4245	3.331	0.06669	591	0.68823	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.019979	0.030303	0.029891	0.019531	0.100000	0.008621	0.003049	0.007576	0.05	4250.43	605	chr1	152312082	.	C	G	4250.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.618;DP=2780;ExcessHet=0;FS=1.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.79;MQRankSum=-1.753;QD=10.44;ReadPosRankSum=0.411;SOR=0.601	GT:AD:DP:GQ:PL	0/1:225,182:407:99:4262,0,5984	9	0	1	0
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	3	913	508	98	0	704	0.278261	0.0005	0.264	YES	249428	Hemolytic_anemia|not_specified|Hereditary_spherocytosis_type_3|not_provided|Elliptocytosis_2|Pyropoikilocytosis,_hereditary	Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5761.96	48	chr1	158618068	.	G	A	5761.96	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.693;DP=584;ExcessHet=0.6204;FS=3.959;InbreedingCoeff=0.0476;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.361;SOR=0.533	GT:AD:DP:GQ:PL	0/1:48,35:83:99:771,0,1286	5	1	4	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	5	902	520	95	0	710	0.282418	.	.	YES	249434	not_specified|Hereditary_spherocytosis_type_3|Pyropoikilocytosis,_hereditary|Elliptocytosis_2|Hemolytic_anemia|not_provided	MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.251259	0.282828	0.233696	0.292398	0.200000	0.250000	0.210366	0.265152	0.3	9252.96	36	chr1	158627717	.	G	C	9252.96	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.763;DP=799;ExcessHet=0.6204;FS=0.537;InbreedingCoeff=0.0476;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.229;SOR=0.603	GT:AD:DP:GQ:PL	0/1:63,65:128:99:1521,0,1520	5	1	4	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	not_provided|Spherocytosis,_Recessive|Pyropoikilocytosis,_hereditary|Elliptocytosis	MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7287.34	63	chr1	158668075	.	GAAA	G	7287.34	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.759;DP=622;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.22;ReadPosRankSum=-0.222;SOR=0.701	GT:AD:DP:GQ:PL	1/1:0,41:46:99:1867,137,0	6	1	3	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5220.75	36	chr1	168293284	.	A	AGT	5220.75	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.072;DP=863;ExcessHet=0.3131;FS=49.227;InbreedingCoeff=0.2;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=1.3;SOR=2.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,15:60:99:0|1:168293284_A_AGT:227,0,1222:168293284	4	0	6	0
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	683	630	208	0	1046	0.433665	.	.	.	249501	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_specified|not_provided	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.324270	0.373737	0.269022	0.406433	0.250000	0.370690	0.277439	0.352273	0.45	14363.0	41	chr1	169529737	.	T	C	14363.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.102;DP=868;ExcessHet=0.0657;FS=1.298;InbreedingCoeff=0.3939;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=0.383;SOR=0.602	GT:AD:DP:GQ:PL	1/1:0,124:124:99:3558,372,0	4	3	3	0
chr1	169529782	169529782	G	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.C5245G:p.L1749V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	1496	25	0	0	25	0.00828638	.	.	.	718365	Budd-Chiari_syndrome|Thrombophilia_due_to_thrombin_defect|Congenital_factor_V_deficiency|F5-related_disorder|Thrombocytopenia|Abnormal_bleeding|not_provided|Thrombophilia_due_to_activated_protein_C_resistance|Factor_V_deficiency	Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|.|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|MedGen:C3661900|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|Human_Phenotype_Ontology:HP:0003225,MONDO:MONDO:0020586,MedGen:C4317320,Orphanet:326	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.531	0.127375911755	0.0012	0.00239617	0.0024	9.617e-05	0.0016	0	0.0014	0.0020	0.0044	0.0081	0.0023027	356	154602	rs6034	0.0021	0.0021	0.0018	0.0024	0.0086	0.0020	0.0020	0.0081	0.0079	0.0002	0.0020	0.0057	0	0.0012	0.0052	0.0016	0.0022	0.0086	0.0017	0.0017	0.0017	0.0017	0.0079	0.0015	0.0014	0.0059	0.0052	0.0003	0	0.0010	0.0072	0	0.0016	0	0.0020	0.0043	0.0079	0.092	0.31682	T	0.067	0.44302	T	0.941	0.52883	P	0.776	0.57120	P	0.000277	0.46590	N	0.149614	0.997303	0.43782	D	1.19	0.30124	L	-5.61	0.99229	D	-2.29	0.50992	N	0.131	0.12627	0.792	0.94311	D	0.884	0.96142	D	9	0.008653462	0.00196	T	0.127376	0.80917	D	0.531	0.80247	.	.	0.859021010035	0.85765	0.8314894973966273	0.83107	0.273368654784	0.29839	0.376278698444	0.21728	T	0.320223	0.69143	T	-0.238413	0.15552	T	-0.110253	0.62591	T	0.060801956803737	0.07294	T	0.812719	0.47330	T	0.031336132	0.02956	0.07390459	0.16111	0.03905512	0.05320	0.072375126	0.15606	-6.843	0.52878	T	0.4754015278761274	0.55507	0.167	0.36752	B	.;.	.;.	2.063315	0.26232	17.05	0.99571968508615394	0.72440	0.42667	0.26929	N	AEFBCI	0.561513	0.56948	D	-0.214073832332537	0.32555	1.837265	-0.244272608897794	0.29969	1.683406	0.999966962505441	0.48965	0.487112	0.14033	0	0.547309	0.14657	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	5.5	1.34	0.21018	0.796000	0.26646	1.029000	0.23465	-0.154000	0.11915	0.501000	0.26963	0.489000	0.25143	0.548000	0.30127	0.1266:0.2455:0.5015:0.1264	3.938	0.08814	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	1014.43	41	chr1	169529782	.	G	C	1014.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.352;DP=456;ExcessHet=0;FS=1.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.709;SOR=0.943	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1026,0,1324	9	0	1	0
chr1	169530940	169530940	G	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon15:c.C5054G:p.T1685S	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	1493	29	0	0	29	0.00961857	.	.	.	277248	F5-related_disorder|Factor_V_deficiency|not_provided|Budd-Chiari_syndrome|Thrombophilia_due_to_activated_protein_C_resistance|Abnormal_bleeding|Thrombocytopenia|Thrombophilia_due_to_thrombin_defect|Congenital_factor_V_deficiency	.|Human_Phenotype_Ontology:HP:0003225,MONDO:MONDO:0020586,MedGen:C4317320,Orphanet:326|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.224	0.0315810544892	0.0012	0.00239617	0.0024	9.63e-05	0.0016	0	0.0014	0.0020	0.0044	0.0081	0.0022962	355	154602	rs6011	0.0021	0.0021	0.0018	0.0024	0.0086	0.0020	0.0020	0.0081	0.0079	0.0002	0.0020	0.0057	0	0.0012	0.0052	0.0016	0.0022	0.0086	0.0017	0.0017	0.0017	0.0017	0.0079	0.0015	0.0014	0.0059	0.0052	0.0003	0	0.0010	0.0072	0	0.0016	0	0.0020	0.0043	0.0079	0.913	0.02519	T	1.0	0.01155	T	0.067	0.23653	B	0.048	0.24975	B	0.176198	0.17231	N	0.615129	1	0.08975	N	-1.255	0.00759	N	-5.06	0.98629	D	-0.47	0.15178	N	0.103	0.08646	-0.3330	0.74046	T	0.515	0.81845	D	9	0.005989909	0.00134	T	0.031581	0.53626	D	0.224	0.52174	0.299	0.26522	0.569173210356	0.56582	0.7090553199805895	0.70847	0.0834121381475	0.09409	0.343705445528	0.16991	T	0.302042	0.67446	T	-0.374601	0.03367	T	-0.305878	0.44100	T	0.0122122248052273	0.00196	T	0.559044	0.19511	T	0.043750837	0.06875	0.106728494	0.25681	0.05523722	0.10706	0.11016216	0.26559	-3.049	0.10719	T	.	.	0.112	0.22098	B	.;.	.;.	0.563073	0.09319	6.097	0.40620142436926765	0.02878	0.15814	0.19094	N	AEFBI	0.188650	0.31592	N	-0.7881186899421	0.13619	0.6722284	-0.615650689673163	0.19091	1.02277	0.873743343668249	0.25472	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.35	2.24	0.27264	0.431000	0.21163	1.047000	0.23605	0.676000	0.76740	0.133000	0.23395	0.617000	0.25797	0.964000	0.52637	0.0907:0.4013:0.2701:0.2378	3.198	0.06246	772	0.48957	Multicopper oxidase, type 3;Multicopper oxidase, type 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	1095.43	34	chr1	169530940	.	G	C	1095.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.389;SOR=0.678	GT:AD:DP:GQ:PL	0/1:55,41:96:99:1107,0,1319	9	0	1	0
chr1	169542517	169542517	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A2573G:p.K858R	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	794	580	148	0	876	0.355519	.	.	.	249509	Thrombophilia_due_to_activated_protein_C_resistance|not_provided|Congenital_factor_V_deficiency|not_specified	MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.009	.	0.2436	0.266773	0.2768	0.1782	0.4435	0.2189	0.2153	0.2598	0.2797	0.3462	0.26695	41271	154602	rs4524	0.2731	0.2732	0.2716	0.2747	0.4087	0.2724	0.2721	0.4038	0.4017	0.1804	0.4087	0.1760	0.2265	0.2171	0.2765	0.2718	0.2651	0.3467	0.2462	0.2463	0.2443	0.2481	0.3449	0.2441	0.2432	0.3341	0.3309	0.1831	0.1908	0.3418	0.1685	0.2342	0.2115	0.2381	0.2667	0.2614	0.3449	0.855	0.02705	T	0.847	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.635169	0.10649	N	0.830320	1	0.08975	P	-1.355	0.00654	N	2.17	0.19020	T	0.21	0.04776	N	0.026	0.00527	-0.9096	0.46904	T	0.005	0.01615	T	9	0.00049877167	0.00011	T	.	.	.	0.009	0.00846	.	.	.	.	0.1337133431932104	0.13295	0.07127904727	0.07981	0.188595145941	0.00201	T	0.013326	0.11547	T	-0.869542	0.00001	T	-0.877993	0.00671	T	0.000714397847103574	0.00006	T	0.386661	0.09517	T	0.022049049	0.00842	0.030590214	0.01535	0.01725972	0.00258	0.02791734	0.00982	-3.171	0.12129	T	0.05318867320884815	0.01062	0.073	0.04477	B	.;.	.;.	-0.558016	0.01690	0.122	0.12338566367754079	0.00211	0.00494	0.02336	N	AEFBI	0.057701	0.10769	N	-1.69916646532579	0.00845	0.03654265	-1.64287359967973	0.01413	0.06388659	1.28884559717462E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-1.7	0.07721	-0.613000	0.05705	-0.884000	0.07053	-1.357000	0.01185	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3402:0.1552:0.5046	5.162	0.14392	773	0.48803	.;.	.	.	.	.	rs4524	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.262336	0.303030	0.211957	0.318713	0.150000	0.275862	0.225610	0.295455	0.35	18683.9	45	chr1	169542517	.	T	C	18683.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.65;DP=1509;ExcessHet=1.4371;FS=1.107;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.333;SOR=0.801	GT:AD:DP:GQ:PL	0/1:91,83:174:99:2247,0,2360	4	1	5	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	467	200	364	491	0	1346	0.770905	1.0000	0.918	YES	249563	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified	MedGen:C3661900|MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.55	12534.0	97	chr1	179889309	.	G	A	12534.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.448;DP=724;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=1.19;SOR=0.658	GT:AD:DP:GQ:PL	0/1:25,32:57:99:749,0,685	2	3	5	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.6	22498.0	35	chr1	196690107	.	C	T	22498.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-0.327;DP=1336;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=59.98;MQRankSum=0;QD=17.63;ReadPosRankSum=0.497;SOR=0.653	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1571,0,1790	1	3	6	0
chr1	205059101	205059101	C	T	exonic	CNTN2	.	nonsynonymous SNV	CNTN2:NM_001346083:exon6:c.C505T:p.L169F,CNTN2:NM_005076:exon6:c.C505T:p.L169F	.	418	1101	3	0	0	3	0.00136054	.	.	.	439204	not_provided|Epilepsy,_familial_adult_myoclonic,_5|CNTN2-related_disorder	MedGen:C3661900|MONDO:MONDO:0014167,MedGen:C3809374,OMIM:615400,Orphanet:86814|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.00369706114344	0.0031	0.00259585	0.0027	0.0007	0.0018	0	0.0005	0.0041	0.0011	0.0010	0.0027749	429	154602	rs142502980	0.0033	0.0033	0.0033	0.0033	0.0040	0.0032	0.0032	0.0039	0.0039	0.0006	0.0023	0.0005	5.038e-05	0.0005	0.0019	0.0040	0.0021	0.0010	0.0022	0.0023	0.0024	0.0021	0.0041	0.0020	0.0020	0.0037	0.0036	0.0006	0.0022	0.0012	0.0006	0	0.0003	0	0.0041	0.0014	0.0010	0.213	0.19430	T	0.34	0.18018	T	0.06	0.23119	B	0.032	0.22131	B	0.005115	0.33089	N	0.137433	0.999727	0.48557	D	0.825	0.20901	L	3.96	0.03354	T	-1.71	0.40660	N	0.268	0.30347	-0.9416	0.42362	T	0.008	0.02801	T	10	0.009752125	0.00219	T	0.003697	0.08558	T	0.044	0.11924	.	.	0.484545746072	0.48084	0.6712492859374355	0.67062	0.519325346913	0.49757	0.538670659065	0.44257	T	0.155927	0.49788	T	-0.582369	0.00186	T	-0.604182	0.12462	T	0.0159896743891639	0.00381	T	0.877512	0.59164	D	0.3603698	0.57864	0.18809496	0.42080	0.34200135	0.56438	0.20767705	0.45035	-4.273	0.27797	T	.	.	0.508	0.64952	A	.;.;.	.;.;.	3.534479	0.49602	22.8	0.99222461520319372	0.55932	0.75429	0.36931	D	AEFDGBI	0.248604	0.36898	N	-0.144937957589112	0.35449	2.036392	-0.00876786967498507	0.39318	2.329366	0.0654260837766287	0.15360	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.95	3.95	0.44952	0.717000	0.25523	7.662000	0.64290	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.906:0.0:0.094	10.899	0.46252	369	0.84396	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1478.43	35	chr1	205059101	.	C	T	1478.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.775;DP=436;ExcessHet=0;FS=2.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.197;SOR=0.459	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1490,0,1774	9	0	1	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	37050.2	98	chr1	226735804	.	G	T	37050.2	.	AC=20;AF=1;AN=20;DP=1183;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=20;MLEAF=1;MQ=60;QD=32.05;SOR=0.725	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3808,360,0	0	10	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A	.	424	234	529	335	0	1199	0.719256	.	.	YES	1704219	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.625378	0.616162	0.653533	0.640351	0.700000	0.672414	0.628049	0.496212	0.6	10458.0	68	chr1	226736237	.	A	C	10458.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=1.72;DP=639;ExcessHet=2.8549;FS=1.83;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=-0.399;SOR=0.875	GT:AD:DP:GQ:PL	0/1:39,21:60:99:576,0,1130	1	3	6	0
chr1	226736941	226736941	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G518A:p.R173H	.	430	682	354	56	0	466	0.254645	.	.	.	1704218	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.056	.	0.1800	0.227037	0.2073	0.1738	0.3185	0.3280	0.1558	0.1880	0.1973	0.1848	0.19979	30888	154602	rs3754415	0.1881	0.1880	0.1884	0.1878	0.3351	0.1875	0.1873	0.3303	0.3283	0.1707	0.2966	0.2663	0.3351	0.1548	0.2880	0.1782	0.1943	0.1838	0.1865	0.1867	0.1856	0.1874	0.3138	0.1847	0.1839	0.3011	0.2959	0.1682	0.1151	0.2325	0.2674	0.3138	0.1523	0.3333	0.1781	0.2009	0.1956	0.032	0.44694	D	0.02	0.58613	D	0.946	0.53363	P	0.224	0.37970	B	0.000055	0.53742	D	0.000000	0.418022	0.32383	P	0.895	0.22405	L	1.24	0.37746	T	-0.65	0.47514	N	0.124	0.34981	-0.9584	0.39479	T	0.000	0.00011	T	9	0.0021621883	0.00031	T	.	.	.	0.056	0.15993	.	.	.	.	0.23406785644181313	0.23321	0.861550697469	0.68985	0.704100191593	0.67737	T	0.12802	0.45541	T	-0.616075	0.00116	T	-0.513906	0.20915	T	0.0266560751426077	0.01496	T	0.835916	0.50694	T	0.114855304	0.27110	0.07389491	0.16108	0.114855304	0.27110	0.07389491	0.16108	-5.753	0.44163	T	.	.	0.218	0.47976	B	.;.;.	.;.;.	5.064409	0.84424	28.3	0.9994872816168342	0.99931	0.74930	0.36668	D	AEFDBCI	0.356379	0.44778	N	0.214153401976771	0.51885	3.366394	0.283554889984617	0.54579	3.622453	0.999998532014926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.6	4.6	0.56512	1.881000	0.39273	5.847000	0.50302	0.599000	0.40250	0.765000	0.29300	1.000000	0.68203	0.991000	0.66497	0.0:0.8609:0.0:0.1391	9.190	0.36357	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	.	.	rs3754415	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.286002	0.292929	0.293478	0.339181	0.250000	0.267241	0.304878	0.185606	0.2	6887.57	51	chr1	226736941	.	C	T	6887.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.427;DP=844;ExcessHet=1.5895;FS=35.096;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=1.02;SOR=0.102	GT:AD:DP:GQ:PL	0/1:42,75:117:99:1874,0,977	6	0	4	0
chr1	235380162	235380163	TG	-	intronic	TBCE	.	.	.	Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive;Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive;Kenny-Caffey syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	281274	not_provided|Hypoparathyroidism-retardation-dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0009426,MedGen:C1855840,OMIM:241410,Orphanet:2323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs1300770843	0.0386	0.0629	0.0363	0.0409	0.0583	0.0383	0.0382	0.0569	0.0563	0.0108	0.0373	0.0430	0.0445	0.0451	0.0423	0.0366	0.0427	0.0583	0.1000	0.1097	0.1014	0.0984	0.1347	0.0986	0.0980	0.1310	0.1300	0.0362	0.0719	0.1136	0.1412	0.0785	0.1000	0.0949	0.1334	0.0830	0.1347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	5361.07	16	chr1	235380161	.	TTG	T	5361.07	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.589;DP=530;ExcessHet=0.7463;FS=9.721;InbreedingCoeff=-0.1751;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=35.15;ReadPosRankSum=-0.186;SOR=2.326	GT:AD:DP:GQ:PL	1/1:1,8:9:1:177,1,0	7	1	2	0
chr1	236762536	236762536	G	A	exonic	ACTN2	.	nonsynonymous SNV	ACTN2:NM_001103:exon21:c.G2602A:p.A868T,ACTN2:NM_001278343:exon21:c.G2602A:p.A868T,ACTN2:NM_001278344:exon23:c.G1978A:p.A660T	Cardiomyopathy, dilated, 1AA, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 23, with or without LVNC, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	228365	not_provided|Dilated_cardiomyopathy_1AA|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_specified|Myopathy,_congenital,_with_structured_cores_and_z-line_abnormalities|Myopathy,_distal,_6,_adult-onset,_autosomal_dominant	MedGen:C3661900|MONDO:MONDO:0012808,MedGen:C2677338,OMIM:612158,Orphanet:154|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0032852,MedGen:C5231445,OMIM:618654|MONDO:MONDO:0032853,MedGen:C5203349,OMIM:618655	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	0.0065960459423	7.7e-05	0.000199681	4.954e-05	0.0003	0	0	0	3.005e-05	0	6.06e-05	4.53e-05	7	154602	rs143150260	7.456e-05	7.456e-05	6.126e-05	8.801e-05	0.0003	6.315e-05	5.873e-05	7.047e-05	6.54e-05	5.974e-05	0	0	0	0	0.0003	8.453e-05	0.0002	1.159e-05	4.596e-05	4.593e-05	3.856e-05	5.37e-05	7.22e-05	2.108e-05	1.526e-05	1.972e-05	1.124e-05	7.22e-05	0	0	0	0	0	0	5.88e-05	0	0	0.036	0.43393	D	0.167	0.30729	T	0.004	0.12183	B	0.003	0.08700	B	0.281713	0.03838	N	1.510010	0.999954	0.19072	N	1.1	0.28011	L	0.95	0.43279	T	-0.36	0.13035	N	0.047	0.01911	-0.9808	0.34817	T	0.077	0.30767	T	10	0.053504944	0.05552	T	0.006596	0.17386	T	0.028	0.06331	.	.	0.413952526745	0.41011	0.49156699031260054	0.49077	0.210097312842	0.23489	0.464972168207	0.33991	T	0.257365	0.62839	T	-0.445471	0.01201	T	-0.640996	0.09596	T	0.0223241738193941	0.00945	T	0.823018	0.48339	T	0.074888766	0.16836	0.07378174	0.16069	0.074888766	0.16835	0.07378174	0.16069	-6.335	0.49149	T	0.1974373651758204	0.26112	0.069	0.04277	B	.;.;.	.;.;.	2.946698	0.39199	20.9	0.98761478178847895	0.45816	0.22155	0.21650	N	AEFDBHCI	0.136295	0.25691	N	-0.927136963311464	0.10210	0.4868639	-0.853964215652759	0.13193	0.6830432	0.917977535305647	0.26558	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.28	0.621	0.16817	0.002000	0.12962	0.656000	0.20461	-0.274000	0.06627	0.000000	0.06391	0.095000	0.22593	0.746000	0.35646	0.1534:0.4454:0.4013:0.0	9.420	0.37711	498	0.76166	EF-hand, Ca insensitive;.;EF-hand, Ca insensitive	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	999.43	38	chr1	236762536	.	G	A	999.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.105;SOR=0.648	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1011,0,947	9	0	1	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	985.18	62	chr1	236897645	.	CT	C	985.18	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.619;DP=749;ExcessHet=15.1594;FS=1.327;InbreedingCoeff=-0.7289;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=0.648;SOR=0.797	GT:AD:DP:GQ:PL	0/1:25,23:48:99:435,0,476	1	0	9	0
chr1	237833213	237833213	-	T	UTR3	RYR2	NM_001035:c.*566_*567insT	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	280381	Catecholaminergic_polymorphic_ventricular_tachycardia|not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy	MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs113047070	0.0030	0.0012	0	0.0047	.	0	0	.	.	.	.	.	.	0.0030	.	.	0	.	0.0119	0.0135	0.0126	0.0112	0.0388	0.0114	0.0112	0.0372	0.0365	0.0388	0	0.0058	0.0003	0.0017	0.0006	0	0.0011	0.0052	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	356.4	110	chr1	237833213	.	G	GT	356.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.275;DP=660;ExcessHet=0;FS=38.887;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=2.51;SOR=3.041	GT:AD:DP:GQ:PL	0/1:25,19:44:99:368,0,452	9	0	1	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	1408	66	5	15	28	63	0.209581	.	.	.	280387	not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1518.8	17	chr1	237833281	.	G	GA	1518.8	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.529;DP=206;ExcessHet=8.8523;FS=4.059;InbreedingCoeff=-0.5178;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.56;SOR=1.203	GT:AD:DP:GQ:PL	0/1:6,3:11:19:68,0,111	1	0	9	0
chr1	240208225	240208225	C	T	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.C3413T:p.A1138V,FMN2:NM_001305424:exon6:c.C3425T:p.A1142V	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	215203	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.0593264705397	.	.	4.303e-05	0	0	0	0	3.904e-05	0	0.0002	3.84e-05	1	26028	rs199570117	0.0002	0.0003	8.288e-05	0.0003	0.0019	0.0002	0.0002	0.0017	0.0015	0	6.742e-05	8.973e-05	8.975e-05	0	0.0006	3.489e-05	0.0001	0.0019	0.0002	0.0001	0.0003	0	0.0003	0	0	.	.	0	0	0	0	0	0	0	0.0003	0	0	0.125	0.27310	T	0.364	0.16766	T	0.001	0.07471	B	0.001	0.04355	B	0.949794	0.08295	N	0.965537	1	0.08975	N	-0.265	0.03777	N	0.3	0.58755	T	0.98	0.01447	N	0.072	0.04547	-1.0481	0.14932	T	0.074	0.29739	T	9	0.039099485	0.02376	T	0.059326	0.67625	D	0.026	0.05648	.	.	0.45318261447	0.44940	0.031559809544390006	0.03104	0.0908426113057	0.10259	0.480732858181	0.36158	T	0.039202	0.25109	T	-0.489698	0.00652	T	-0.676765	0.07183	T	0.027322051155838	0.01590	T	0.563244	0.19836	T	0.01999625	0.00544	0.03595056	0.02945	0.01999625	0.00544	0.03595056	0.02944	-5.064	0.37526	T	.	.	0.078	0.06896	B	.	.	-1.087624	0.00655	0.018	0.4854602836483915	0.04060	0.00082	0.00556	N	AEFI	0.024825	0.01600	N	-1.81045544107508	0.00520	0.0223836	-1.88724632416224	0.00519	0.02299746	0.0279158718562539	0.13801	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.21	-4.88	0.02884	-2.667000	0.00919	-20.000000	0.00162	-4.313000	0.00033	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1539:0.3443:0.0:0.5019	4.261	0.10189	976	0.04745	Formin Homology 1|Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010106	0.000000	0.009511	0.020161	0.000000	0.025862	0.003145	0.015152	0.0625	269.74	13	chr1	240208225	.	C	T	269.74	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.744;DP=210;ExcessHet=0;FS=1.778;InbreedingCoeff=-0.1116;MLEAC=1;MLEAF=0.063;MQ=46.51;MQRankSum=-1.21;QD=14.99;ReadPosRankSum=-0.578;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,10:18:99:0|1:240208184_A_T:280,0,279:240208184	7	0	1	2
chr1	241500602	241500602	-	GA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281818	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0513678	1337	26028	rs144131869	0.1574	0.1684	0.1570	0.1578	0.1631	0.1568	0.1566	0.1624	0.1621	0.0739	0.1336	0.1444	0.1123	0.1723	0.1300	0.1631	0.1482	0.1548	0.1001	0.0981	0.0989	0.1013	0.1219	0.0986	0.0981	0.1196	0.1187	0.0599	0.1539	0.0773	0.0991	0.1060	0.1609	0.1111	0.1219	0.0848	0.0593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	4847.39	14	chr1	241500602	.	T	TGA	4847.39	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.178;DP=402;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=59.93;MQRankSum=0;QD=27.7;ReadPosRankSum=-0.227;SOR=0.678	GT:AD:DP:GQ:PL	1/0:2,7:16:99:451,220,245	7	0	3	0
chr1	241500602	241500602	-	GAGAGAGAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	280522	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|not_specified|Hereditary_leiomyomatosis_and_renal_cell_cancer|FH-related_disorder|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MedGen:CN169374|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs144131869	0.0232	0.0291	0.0236	0.0228	0.0258	0.0230	0.0229	0.0256	0.0255	0.0213	0.0098	0.0087	0.0105	0.0193	0.0156	0.0258	0.0219	0.0110	0.0201	0.0218	0.0209	0.0193	0.0309	0.0195	0.0193	0.0268	0.0252	0.0264	0.0035	0.0161	0.0141	0.0309	0.0059	0.0075	0.0192	0.0184	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	4847.39	14	chr1	241500602	.	T	TGAGAGAGAGAGA	4847.39	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.178;DP=402;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=59.93;MQRankSum=0;QD=27.7;ReadPosRankSum=-0.227;SOR=0.678	GT:AD:DP:GQ:PL	0/1:2,7:16:99:451,138,298	7	0	3	0
chr2	26454684	26454684	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon15:c.C1957T:p.R653C	Ciliary dyskinesia, primary, 21, Autosomal recessive	422	1088	11	1	0	13	0.00593878	.	.	.	686174	Inborn_genetic_diseases|Primary_ciliary_dyskinesia|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.0133825133334	.	.	0.0005	9.614e-05	0.0003	0	0.0002	7.497e-05	0.0022	0.0028	0.0003881	60	154602	rs139106371	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	8.944e-05	0	7.557e-05	7.489e-05	0.0016	4.766e-05	0.0003	0.0027	0.0001	0.0001	0.0001	0.0001	0.0017	9.149e-05	7.704e-05	0.0008	0.0006	2.408e-05	0	0.0004	0	0	0	0	8.823e-05	0	0.0017	0.014	0.53172	D	0.001	0.83351	D	1.0	0.90584	D	0.911	0.64720	D	0.009340	0.30410	N	0.322809	0.999917	0.19599	N	2.485	0.72352	M	2.1	0.19990	T	-5.28	0.84246	D	0.339	0.38027	-1.0215	0.23227	T	0.114	0.40672	T	10	0.020758808	0.00484	T	0.013383	0.32738	T	0.058	0.16647	0.567	0.68901	0.253205268125	0.24938	0.36535253999707445	0.36449	0.119650521778	0.13479	0.320220708847	0.13455	T	0.069858	0.33814	T	-0.478787	0.00752	T	-0.464512	0.26109	T	0.0857806656965326	0.10709	T	0.666133	0.27528	T	0.10670609	0.25230	0.13347591	0.32006	0.09847987	0.23229	0.10094992	0.24151	-6.006	0.46330	T	.	.	0.191	0.40968	B	.	.	2.494027	0.32184	18.97	0.99434719438662533	0.64472	0.21337	0.21366	N	AEFBI	0.171622	0.29860	N	-0.293906595048252	0.29384	1.628939	-0.513926226274047	0.21774	1.179546	0.995272016818871	0.34040	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.15	2.31	0.27816	0.423000	0.21032	1.629000	0.27729	-1.642000	0.00838	0.097000	0.22731	0.151000	0.23179	0.000000	0.00833	0.1383:0.7107:0.0:0.1509	7.164	0.24855	416	0.81733	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1121.43	34	chr2	26454684	.	C	T	1121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.245;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.305;SOR=0.675	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1133,0,1420	9	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	1	171	630	720	0	2070	0.858209	.	.	YES	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.646632	0.560606	0.637228	0.608392	0.700000	0.698276	0.698171	0.674242	0.75	27594.1	127	chr2	44320435	.	G	A	27594.1	.	AC=15;AF=0.75;AN=20;BaseQRankSum=-0.136;DP=1195;ExcessHet=0.2065;FS=0.684;InbreedingCoeff=0.2;MLEAC=15;MLEAF=0.75;MQ=59.98;MQRankSum=0;QD=24.77;ReadPosRankSum=-0.074;SOR=0.818	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1650,0,1747	1	6	3	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3970.55	55	chr2	69326243	.	GA	G	3970.55	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.38;DP=430;ExcessHet=2.4664;FS=3.425;InbreedingCoeff=-0.1243;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.264;SOR=0.518	GT:AD:DP:GQ:PL	0/1:18,15:39:99:300,0,424	2	2	6	0
chr2	70959974	70959974	G	A	exonic	ATP6V1B1	.	nonsynonymous SNV	ATP6V1B1:NM_001692:exon6:c.G481A:p.E161K	Renal tubular acidosis with deafness, Autosomal recessive	0	1256	247	19	0	285	0.101895	.	.	YES	53396	not_specified|not_provided|Renal_tubular_acidosis_with_progressive_nerve_deafness	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009968,MedGen:C0403554,OMIM:267300,Orphanet:93611	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	.	0.0232	0.0289537	0.0306	0.0250	0.0125	0.0001	0.0490	0.0272	0.0454	0.0685	0.0293463	4537	154602	rs114234874	0.0249	0.0249	0.0230	0.0269	0.0712	0.0247	0.0246	0.0697	0.0691	0.0274	0.0136	0.0589	0.0002	0.0528	0.0690	0.0201	0.0284	0.0712	0.0260	0.0261	0.0245	0.0275	0.0644	0.0253	0.0251	0.0585	0.0562	0.0261	0.0011	0.0184	0.0553	0.0004	0.0491	0.0612	0.0217	0.0331	0.0644	0.136	0.26519	T	0.196	0.28764	T	0.001	0.16867	B	0.005	0.11217	B	0.000038	0.55875	D	0.000000	1	0.81001	D	0.475	0.13142	N	-1.58	0.81987	D	-1.85	0.43334	N	0.459	0.49602	-0.6437	0.62987	T	0.142	0.46312	T	10	0.0060780346	0.00137	T	.	.	.	0.245	0.55201	.	.	.	.	0.7894849641373344	0.78900	0.348821776332	0.36742	0.779242157936	0.78813	T	0.303278	0.67564	T	-0.316591	0.07181	T	-0.176486	0.56848	T	0.0239386013980681	0.01138	T	0.987751	0.95824	D	0.27729845	0.50788	0.21772106	0.46448	0.2430736	0.47241	0.21201313	0.45652	-13.016	0.89430	D	0.09918904614847013	0.07178	0.214	0.44306	B	.;.;.	.;.;.	5.669601	0.92930	33	0.99854275506567114	0.93368	0.98739	0.86233	D	AEFDBI	0.923668	0.90050	D	0.0732190723337372	0.45217	2.781897	0.2264564783132	0.51319	3.315583	0.999999999976642	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.47	4.47	0.53770	9.994000	0.99266	8.662000	0.77976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	14.669	0.68536	826	0.39940	.;.;.	FAM136A	Artery_Coronary	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.068479	0.050505	0.062500	0.078947	0.050000	0.086207	0.054878	0.102273	0.15	4890.45	123	chr2	70959974	.	G	A	4890.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.667;DP=678;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.198;SOR=0.651	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1665,0,1866	7	0	3	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	910	207	66	339	0	744	0.642487	.	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8571	751.73	5	chr2	113062899	.	T	C	751.73	.	AC=12;AF=0.857;AN=14;BaseQRankSum=-0.385;DP=30;ExcessHet=0.3476;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=26.85;ReadPosRankSum=0;SOR=0.638	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0	0	5	2	3
chr2	135804884	135804884	A	G	exonic	LCT	.	synonymous SNV	LCT:NM_002299:exon10:c.T4347C:p.F1449F	Lactase deficiency, congenital, Autosomal recessive	0	1459	61	2	0	65	0.0217901	.	.	.	281860	Lactose_intolerance|not_provided|LCT-related_disorder|Congenital_lactase_deficiency	Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951|MedGen:C3661900|.|MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0070	0.00519169	0.0087	0.0011	0.0064	0	0.0188	0.0107	0.0099	0.0076	0.0083958	1298	154602	rs17699796	0.0079	0.0079	0.0075	0.0082	0.0165	0.0077	0.0077	0.0138	0.0128	0.0012	0.0057	0.0121	2.519e-05	0.0180	0.0165	0.0078	0.0079	0.0078	0.0078	0.0078	0.0070	0.0086	0.0101	0.0074	0.0073	0.0094	0.0092	0.0013	0	0.0067	0.0127	0	0.0225	0.0272	0.0101	0.0104	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.011581	0.005051	0.014946	0.011696	0.100000	0.025862	0.018293	0.003788	0.15	7303.45	35	chr2	135804884	.	A	G	7303.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.47;DP=915;ExcessHet=0.7463;FS=0.527;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.075;SOR=0.635	GT:AD:DP:GQ:PL	0/1:121,90:211:99:2212,0,3203	7	0	3	0
chr2	151546001	151546001	-	A	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282777	not_specified|Nemaline_myopathy_2|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2521	0.1709	0.2716	0.2475	0.2950	0.2447	0.2589	0.2849	0.0001921	5	26028	rs762865768	0.2760	0.2628	0.2762	0.2759	0.3185	0.2751	0.2747	0.3132	0.3111	0.2337	0.3066	0.2747	0.3185	0.2903	0.2933	0.2740	0.2796	0.2642	0.2606	0.2606	0.2567	0.2647	0.3671	0.2583	0.2574	0.3587	0.3552	0.1876	0.2989	0.3671	0.2638	0.3220	0.2881	0.2862	0.2731	0.2600	0.2294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1988.77	59	chr2	151546001	.	T	TA	1988.77	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.321;DP=543;ExcessHet=15.1594;FS=7.134;InbreedingCoeff=-0.8944;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=0.533;SOR=0.421	GT:AD:DP:GQ:PL	0/1:16,2:30:51:51,0,312	0	1	9	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	411.49	152	chr2	151680729	.	C	T	411.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.4;DP=854;ExcessHet=0.7463;FS=121.756;InbreedingCoeff=-0.178;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=0.502;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,24:107:99:.:.:121,0,1541:.	7	0	3	0
chr2	165932985	165932985	C	A	exonic	TTC21B	.	synonymous SNV	TTC21B:NM_024753:exon7:c.G783T:p.G261G	Nephronophthisis 12, Autosomal recessive, Autosomal dominant;Short-rib thoracic dysplasia 4 with or without polydactyly, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	516603	Asphyxiating_thoracic_dystrophy_4|Nephronophthisis_12|not_provided|TTC21B-related_disorder|Nephronophthisis|Jeune_thoracic_dystrophy	MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0002	0	0	0.0001164	18	154602	rs200255917	8.148e-05	8.14e-05	8.447e-05	7.845e-05	0.0001	6.941e-05	6.492e-05	5.806e-05	3.953e-05	2.989e-05	0.0001	0.0030	0	0	0	1.35e-05	0.0003	0	8.549e-05	8.539e-05	0.0001	5.385e-05	0.0001	4.961e-05	3.966e-05	2.264e-05	9.08e-06	0	0	0.0001	0.0026	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.05	472.43	34	chr2	165932985	.	C	A	472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.522;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.816;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,25:50:99:484,0,506	9	0	1	0
chr2	169294718	169294718	A	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282759	Donnai-Barrow_syndrome|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.0121	0.0063	0.0120	0.0029	0.0051	0.0111	0.0077	0.0003074	8	26028	rs766367371	0.0646	0.0951	0.0648	0.0645	0.1291	0.0641	0.0639	0.1251	0.1234	0.1202	0.1291	0.0617	0.0743	0.0575	0.0533	0.0598	0.0754	0.0551	0.3357	0.3394	0.3363	0.3350	0.4615	0.3327	0.3315	0.4502	0.4456	0.4489	0.3239	0.4615	0.2703	0.3170	0.2210	0.2936	0.2726	0.3467	0.2235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	7058.4	58	chr2	169294717	.	TA	T	7058.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.51;DP=718;ExcessHet=0;FS=3.225;InbreedingCoeff=nan;MLEAC=2;MLEAF=0.1;MQ=59.98;MQRankSum=0;QD=28.58;ReadPosRankSum=1.4;SOR=1.362	GT:AD:DP:GQ:PL	0/1:0,6:12:61:227,91,61	8	0	2	0
chr2	171448665	171448665	-	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	295	1061	129	35	2	201	0.0857389	.	.	.	1153880	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1900	0.1440	0.2965	0.1542	0.1838	0.1738	0.1942	0.2313	0.0121408	316	26028	rs139655160	0.1523	0.1653	0.1512	0.1534	0.2241	0.1517	0.1515	0.2196	0.2178	0.1225	0.2241	0.1819	0.1751	0.1501	0.1619	0.1464	0.1560	0.1975	0.1961	0.1983	0.1956	0.1968	0.2795	0.1943	0.1935	0.2670	0.2620	0.1627	0.1681	0.2502	0.2551	0.1836	0.2003	0.2363	0.1955	0.2145	0.2795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2843.94	36	chr2	171448665	.	C	CT	2843.94	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.027;DP=350;ExcessHet=4.5998;FS=0.562;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.437;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,11:31:99:0|1:171448665_C_CT:391,0,807:171448665	4	0	6	0
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	305	1005	21	3	188	215	0.0132548	.	.	.	189063	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.207069	0.2822	0.2104	0.4319	0.2364	0.2448	0.2580	0.2773	0.3437	0.0139778	2161	154602	rs192861143	0.2297	0.1974	0.2282	0.2312	0.3467	0.2289	0.2286	0.3409	0.3385	0.1856	0.3467	0.2716	0.2622	0.2223	0.2208	0.2204	0.2344	0.2999	0.2054	0.2045	0.2034	0.2075	0.2886	0.2034	0.2026	0.2757	0.2706	0.1695	0.1726	0.2733	0.2593	0.1987	0.2244	0.2396	0.2008	0.2248	0.2886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2843.98	36	chr2	171448667	.	C	T	2843.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.487;DP=357;ExcessHet=4.5998;FS=0.553;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.583;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,11:31:99:0|1:171448665_C_CT:391,0,807:171448665	4	0	6	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	50	730	457	105	180	847	0.313587	.	.	.	1258517	not_provided|Woodhouse-Sakati_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.227835	.	.	.	.	.	.	.	.	0.0401491	1045	26028	rs58636477	0.2283	0.2354	0.2253	0.2312	0.3807	0.2275	0.2272	0.3754	0.3733	0.2227	0.3807	0.2915	0.2775	0.2308	0.2404	0.2103	0.2387	0.3067	0.2115	0.2106	0.2096	0.2136	0.2856	0.2096	0.2088	0.2729	0.2678	0.1932	0.1718	0.2748	0.2573	0.1950	0.2276	0.2413	0.1998	0.2246	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4961.06	63	chr2	171458134	.	AT	A	4961.06	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.079;DP=558;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.741;SOR=0.674	GT:AD:DP:GQ:PL	0/1:18,24:42:99:552,0,362	4	0	6	0
chr2	178663311	178663311	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon173:c.T36655G:p.L12219V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	73	1266	106	77	0	260	0.0931232	.	.	.	221130	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified	MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0150	0.0175	0.0142	0.0246	0.0064	0.0084	0.0161	0.0471	0.0001153	3	26028	rs12994774	0.1053	0.1441	0.0997	0.1110	0.4941	0.1048	0.1046	0.4879	0.4853	0.1766	0.1914	0.1555	0.4941	0.1269	0.1625	0.0697	0.1437	0.2890	0.1768	0.2604	0.1773	0.1762	0.4475	0.1748	0.1739	0.4281	0.4203	0.2099	0.4255	0.2226	0.1839	0.4475	0.1409	0.2125	0.1303	0.1755	0.3076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	0.1	0.61326	T	.	.	.	0.026	0.00527	-0.9795	0.35117	T	0.032	0.13548	T	6	0.0017544031	0.00022	T	.	.	.	.	.	.	.	.	.	.	.	0.0842442114282	0.09510	.	.	.	.	.	.	-0.363034	0.03962	T	-0.75925	0.03139	T	0.000459135104007003	0.00004	T	0.0683932	0.00498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.212283	0.00518	0.012	0.6304760633085309	0.07121	0.00290	0.01555	N	AEFBI	0.049581	0.08580	N	-2.27256405002745	0.00053	0.002253834	-2.33442631479677	0.00056	0.002438733	0.00319315519440736	0.09983	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.22	-4.3	0.03454	-4.205000	0.00312	.	.	-2.188000	0.00360	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3266:0.2877:0.0:0.3857	4.794	0.12634	426	0.81110	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	316.66	112	chr2	178663311	.	A	C	316.66	.	AC=4;AF=0.2;AN=20;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=0.9612;MLEAC=3;MLEAF=0.15;MQ=36.76;QD=31.67;SOR=4.804	GT:AD:DP:GQ:PL	1/1:0,3:3:9:80,9,0	8	2	0	0
chr2	181537908	181537908	C	A	UTR3	CERKL;ITGA4	NM_001030311:c.*276G>T;NM_001030313:c.*276G>T;NM_001030312:c.*276G>T;NM_201548:c.*276G>T;NM_001160277:c.*276G>T;NM_000885:c.*2381C>A	.	.	.	786	734	2	0	0	2	0.00136054	.	.	.	286429	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0032	0	0.0094	0	.	0.0056	0.0083	0.0023	0.0011837	183	154602	rs72883650	0.0052	0.0051	0.0054	0.0050	0.0071	0.0050	0.0049	0.0069	0.0067	0.0016	0.0027	0.0031	0.0022	0.0018	0.0017	0.0071	0.0047	0.0024	0.0043	0.0043	0.0046	0.0040	0.0072	0.0040	0.0039	0.0066	0.0064	0.0015	0	0.0036	0.0026	0.0017	0.0014	0	0.0072	0.0029	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	63.49	3	chr2	181537908	.	C	A	63.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.385;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.44;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:71:71,0,72	6	0	1	3
chr2	210203383	210203383	C	A	exonic	ACADL	.	nonsynonymous SNV	ACADL:NM_001608:exon8:c.G932T:p.R311M	.	21	1495	5	1	0	7	0.00233567	.	.	.	433337	Long_chain_acyl-CoA_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0020531,MedGen:C0220711|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.738	0.228756806949	0.0005	.	0.0020	0.0006	0.0007	0	0.0041	0.0024	0.0023	0.0021	0.0015782	244	154602	rs377085604	0.0070	0.0074	0.0072	0.0067	0.0078	0.0068	0.0068	0.0077	0.0076	0.0007	0.0024	0.0021	0	0.0103	0.0010	0.0078	0.0062	0.0038	0.0051	0.0051	0.0051	0.0051	0.0075	0.0048	0.0047	0.0069	0.0067	0.0013	0	0.0049	0.0020	0	0.0111	0	0.0075	0.0028	0.0027	0.061	0.37118	T	0.121	0.35840	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.58	0.39772	L	-3.87	0.95922	D	-1.37	0.33998	N	0.802	0.79792	0.966	0.96631	D	0.895	0.96529	D	10	0.0887534	0.15311	T	0.228757	0.88153	D	0.738	0.90895	.	.	0.987845976444	0.98771	0.8277364911453763	0.82731	0.894564984557	0.70389	0.518029212952	0.41348	T	0.636253	0.88789	D	0.03605	0.56526	T	0.28148	0.87204	D	0.0219350821162778	0.00901	T	0.930707	0.74322	D	0.51036674	0.67700	0.4749106	0.69570	0.51036674	0.67701	0.4749106	0.69570	-4.36	0.29010	T	.	.	0.383	0.58593	A	.	.	4.917321	0.80965	27.4	0.93463359317222294	0.23252	0.93580	0.58606	D	ALL	0.900185	0.84541	D	0.636925684181711	0.75524	6.321442	0.643941750098315	0.78160	6.820752	0.999999999742513	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.43	5.43	0.79006	5.599000	0.67280	4.864000	0.45499	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.244	0.93880	708	0.56926	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	617.43	36	chr2	210203383	.	C	A	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=371;ExcessHet=0;FS=3.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=1.16;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,18:60:99:0|1:210203379_G_GTTAAACATAACA:629,0,1689:210203379	9	0	1	0
chr2	210656609	210656609	A	G	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon30:c.A3643G:p.I1215V,CPS1:NM_001122633:exon31:c.A3643G:p.I1215V,CPS1:NM_001369256:exon31:c.A3676G:p.I1226V,CPS1:NM_001369257:exon32:c.A3643G:p.I1215V	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	1	1513	8	0	0	8	0.00263678	.	.	.	237339	Congenital_hyperammonemia,_type_I|Pulmonary_hypertension,_neonatal,_susceptibility_to|not_provided|not_specified	MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.696	0.026614360004	0.0010	0.000199681	0.0015	0.0002	0.0027	0	0	0.0021	0.0022	0.0004	0.0014359	222	154602	rs141373204	0.0011	0.0011	0.0011	0.0012	0.0111	0.0011	0.0010	0.0089	0.0081	0.0002	0.0017	0.0147	2.519e-05	0	0.0111	0.0008	0.0029	0.0006	0.0013	0.0012	0.0014	0.0011	0.0024	0.0011	0.0011	0.0017	0.0015	0.0001	0	0.0024	0.0171	0	0	0.0315	0.0009	0.0039	0.0017	0.012	0.54683	D	0.017	0.60972	D	0.619	0.39896	P	0.354	0.42942	B	0.000000	0.84330	N	0.046659	0.999316	0.46639	D	1.295	0.32453	L	-4.28	0.97126	D	-0.81	0.22294	N	0.281	0.31814	0.729	0.93531	D	0.844	0.94781	D	10	0.0088790655	0.00201	T	0.026614	0.49512	D	0.696	0.89007	.	.	0.852499549851	0.85108	0.7071783142122061	0.70659	0.202042824549	0.22620	0.478276997805	0.35819	T	0.671407	0.90251	D	-0.0158437	0.49444	T	0.191235	0.82640	D	0.0179974770087154	0.00524	T	0.779122	0.41282	T	0.57867557	0.71536	0.34298837	0.60017	0.63356006	0.74489	0.35052237	0.60660	-4.053	0.25157	T	0.1860674942653916	0.24202	0.112	0.26325	B	.;.;.	.;.;.	2.068265	0.26303	17.07	0.99799060945873042	0.88372	0.92144	0.55042	D	AEFBCI	0.943246	0.94884	D	0.284734331515722	0.55374	3.701525	0.375728509551874	0.60071	4.19087	0.720234988366096	0.22923	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.08	4.94	0.64645	5.815000	0.68892	2.068000	0.30429	0.665000	0.62972	1.000000	0.71638	0.774000	0.26724	0.996000	0.76049	0.9211:0.0:0.0789:0.0	10.605	0.44578	427	0.81056	.;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.020202	0.013587	0.017544	0.000000	0.017241	0.000000	0.003788	0.1	957.14	34	chr2	210656609	.	A	G	957.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.22;DP=437;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.113;SOR=0.632	GT:AD:DP:GQ:PL	0/1:33,30:63:99:605,0,681	8	0	2	0
chr2	218814154	218814154	C	T	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon6:c.C1151T:p.P384L	Cerebrotendinous xanthomatosis, Autosomal recessive	0	1375	136	11	0	158	0.0543329	.	.	.	76739	not_specified|Cholestanol_storage_disease|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.706	.	0.0185	0.00858626	0.0188	0.0043	0.0085	0.0002	0.0033	0.0237	0.0287	0.0305	0.0184215	2848	154602	rs41272687	0.0210	0.0210	0.0201	0.0219	0.0321	0.0208	0.0207	0.0311	0.0307	0.0036	0.0090	0.0606	5.038e-05	0.0046	0.0296	0.0215	0.0236	0.0321	0.0153	0.0153	0.0161	0.0144	0.0302	0.0147	0.0145	0.0262	0.0247	0.0048	0.0011	0.0122	0.0662	0.0004	0.0035	0.0204	0.0218	0.0171	0.0302	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.991	0.79672	D	0.000004	0.62929	D	0.107590	1	0.81001	D	3.485	0.92608	M	-0.89	0.74793	T	-8.96	0.98008	D	0.304	0.34336	0.102	0.84217	D	0.405	0.75494	T	10	0.01014173	0.00227	T	.	.	.	0.706	0.89468	.	.	.	.	0.7685931894027043	0.76808	0.718227317278	0.62082	0.659238398075	0.61300	T	0.789706	0.94524	D	-0.270528	0.11699	T	-0.136996	0.60378	T	0.11918224549788	0.14350	T	0.893211	0.63049	D	0.86496913	0.88467	0.8525277	0.91674	0.84357893	0.86867	0.8265389	0.89961	-10.334	0.75887	D	.	.	0.150	0.33226	B	.	.	4.776233	0.77372	26.7	0.998816009000558	0.95733	0.99245	0.93370	D	AEFDBI	0.969073	0.99150	D	0.873247694114172	0.90388	10.38185	0.80346255499055	0.90031	10.22696	0.999999999999579	0.74766	0.732398	0.92422	0	0.610034	0.51514	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.760000	0.84095	5.941000	0.51480	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.534000	0.29800	0.0:1.0:0.0:0.0	18.974	0.92704	877	0.30165	.	.	.	.	.	rs41272687	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025176	0.000000	0.013587	0.008772	0.050000	0.043103	0.060976	0.037879	0.15	3122.43	35	chr2	218814154	.	C	T	3122.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.03;DP=438;ExcessHet=0;FS=0;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=20.14;ReadPosRankSum=1.2;SOR=0.73	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2200,216,0	8	1	1	0
chr2	237378986	237378986	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon4:c.G926A:p.G309D,COL6A3:NM_057165:exon5:c.G1529A:p.G510D,COL6A3:NM_057167:exon5:c.G1529A:p.G510D,COL6A3:NM_004369:exon6:c.G2147A:p.G716D	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	272678	Inborn_genetic_diseases|Bethlem_myopathy_1A|Collagen_6-related_myopathy|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.388	0.142767451627	0.0002	0.000399361	0.0004	0	8.646e-05	0	0	2.999e-05	0	0.0024	0.0002911	45	154602	rs144514259	0.0002	0.0002	0.0001	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	2.987e-05	6.708e-05	0	0	0	0.0003	2.338e-05	0.0003	0.0022	9.849e-05	9.844e-05	5.139e-05	0.0001	0.0021	6.002e-05	4.877e-05	0.0011	0.0009	4.812e-05	0	0	0	0	9.425e-05	0	2.94e-05	0	0.0021	0.063	0.39575	T	0.063	0.45110	T	0.991	0.64070	D	0.907	0.64423	P	0.340956	0.13964	N	0.617678	1	0.08975	N	1.355	0.33814	L	-2.08	0.86010	D	-1.14	0.39692	N	0.526	0.55540	-0.3019	0.74932	T	0.620	0.86618	D	10	0.020178616	0.00461	T	0.142767	0.82513	D	0.388	0.70440	.	.	0.853917324909	0.85251	0.720430042965903	0.71986	0.711923238635	0.61746	0.46800801158	0.34407	T	0.206701	0.56612	T	-0.273333	0.11389	T	-0.171567	0.57299	T	0.0585375623938364	0.06935	T	0.889711	0.65830	D	0.09700213	0.22858	0.10164689	0.24340	0.09700213	0.22857	0.10164689	0.24339	-5.743	0.44074	T	.	.	0.153	0.36295	B	.;.;.;.;.	.;.;.;.;.	2.570918	0.33311	19.30	0.99632821243552139	0.76142	0.12719	0.17439	N	AEFDBI	0.173534	0.30062	N	-0.0427885090560121	0.39926	2.362453	-0.0722095831181166	0.36543	2.128073	0.988867040400841	0.31652	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.52	3.67	0.41236	0.813000	0.26883	1.019000	0.23391	0.599000	0.40250	0.414000	0.26282	0.808000	0.27011	0.965000	0.52897	0.3302:0.392:0.2779:0.0	7.264	0.25396	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1884.43	34	chr2	237378986	.	C	T	1884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.264;DP=477;ExcessHet=0;FS=5.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.45;SOR=0.843	GT:AD:DP:GQ:PL	0/1:86,79:165:99:1896,0,2448	9	0	1	0
chr3	15645186	15645186	G	C	exonic	BTD	.	nonsynonymous SNV	BTD:NM_001281723:exon4:c.G1270C:p.D424H,BTD:NM_001281725:exon4:c.G1270C:p.D424H,BTD:NM_001370658:exon4:c.G1270C:p.D424H,BTD:NM_001323582:exon5:c.G1270C:p.D424H,BTD:NM_001281724:exon6:c.G1270C:p.D424H	Biotinidase deficiency, Autosomal recessive	2	1418	95	7	0	109	0.0370119	.	.	YES	16939	Biotinidase_deficiency|not_provided|Inborn_genetic_diseases|BTD-related_disorder	MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.769	.	0.0301	0.0185703	0.0317	0.0064	0.0152	0.0001	0.0540	0.0394	0.0352	0.0353	0.0314679	4865	154602	rs13078881	0.0390	0.0390	0.0391	0.0389	0.0420	0.0387	0.0386	0.0417	0.0415	0.0055	0.0189	0.0329	0.0002	0.0525	0.0205	0.0420	0.0385	0.0371	0.0294	0.0294	0.0284	0.0305	0.0403	0.0287	0.0284	0.0391	0.0386	0.0081	0	0.0287	0.0297	0.0002	0.0553	0.0408	0.0403	0.0350	0.0377	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.011652	0.29451	N	0.392353	0.991903	0.41504	A	3.055	0.86842	M	-3.72	0.95422	D	-5.48	0.85692	D	0.149	0.15187	0.464	0.90040	D	0.757	0.91710	D	9	0.01670149	0.00353	T	.	.	.	0.769	0.92212	.	.	.	.	0.8205354657431334	0.82010	0.109977912517	0.12399	0.437338232994	0.30213	T	0.892705	0.97833	D	0.00674126	0.52581	T	0.269042	0.86523	D	0.0872976775988275	0.10895	T	0.910909	0.68443	D	0.3162185	0.54318	0.4804979	0.69913	0.32418567	0.54991	0.41853052	0.65874	-8.47	0.64230	D	.	.	0.294	0.52508	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.641328	0.51634	23.1	0.99037496549655568	0.50939	0.93213	0.57620	D	AEFBI	0.527041	0.54914	D	0.306778470298634	0.56495	3.81437	0.17854025293852	0.48673	3.080047	0.999993304002011	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.678554	0.66404	0	.	.	5.58	3.8	0.42887	3.238000	0.51051	4.432000	0.43354	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.425000	0.27339	0.1379:0.0:0.8621:0.0	12.205	0.53657	498	0.76166	.;.;.;.;.;.;.	EAF1-AS1	Testis	.	.	rs13078881	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.027190	0.015152	0.016304	0.023392	0.000000	0.043103	0.042683	0.034091	0.05	2010.43	33	chr3	15645186	.	G	C	2010.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-0.854;SOR=0.701	GT:AD:DP:GQ:PL	0/1:58,69:127:99:2022,0,1479	9	0	1	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	335	305	451	409	22	1291	0.675359	.	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3510.5	15	chr3	27721936	.	G	GCGGCGC	3510.5	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.784;DP=173;ExcessHet=2.8549;FS=2.214;InbreedingCoeff=-0.2501;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.88;ReadPosRankSum=-0.411;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,13:13:39:.:.:476,39,0:.	2	2	6	0
chr3	136283950	136283950	A	C	intronic	PCCB	.	.	.	Propionicacidemia, Autosomal recessive	1	1502	18	1	0	20	0.00661376	0.9938	0.882	YES	519110	Propionic_acidemia|not_provided|PCCB-related_disorder	Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0011	0	0.0007	0.0001	0	0.0002	0	0.0068	0.0009573	148	154602	rs199886085	0.0006	0.0006	0.0004	0.0008	0.0065	0.0005	0.0005	0.0060	0.0058	3.04e-05	0.0002	3.85e-05	0	1.877e-05	0.0038	0.0002	0.0006	0.0065	0.0004	0.0004	0.0003	0.0005	0.0083	0.0003	0.0003	0.0063	0.0055	0	0	6.537e-05	0	0	0	0	0.0002	0.0009	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1142.43	34	chr3	136283950	.	A	C	1142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=416;ExcessHet=0;FS=0.756;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.202;SOR=0.841	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1154,0,1359	9	0	1	0
chr3	142550162	142550162	G	A	exonic	ATR	.	synonymous SNV	ATR:NM_001354579:exon13:c.C2754T:p.F918F,ATR:NM_001184:exon14:c.C2946T:p.F982F	Seckel syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	888101	not_specified|not_provided|Inborn_genetic_diseases|ATR-related_disorder|Seckel_syndrome_1	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0003	0	0	0	0.0009	0.0005	0	0	0.0002911	45	154602	rs138061993	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0	0	0	0.0012	0	0.0002	0.0003	0	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0001	0	0	0	0	0.0012	0	0.0005	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.05	1406.43	33	chr3	142550162	.	G	A	1406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.406;DP=449;ExcessHet=0;FS=2.293;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=2.16;SOR=0.539	GT:AD:DP:GQ:PL	0/1:63,61:124:99:1418,0,1399	9	0	1	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2688.25	45	chr3	160258644	.	G	GA	2688.25	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.896;DP=449;ExcessHet=1.4371;FS=3.237;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.137;SOR=0.501	GT:AD:DP:GQ:PL	0/1:22,16:38:99:339,0,490	4	1	5	0
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T	Apnea, postanesthetic (3)	44	964	416	98	0	612	0.240945	.	.	YES	28259	Deficiency_of_butyrylcholinesterase|not_specified|not_provided|Butyrylcholinesterase_activity	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.136	.	0.1977	0.158546	0.1891	0.1966	0.1155	0.1183	0.1714	0.2109	0.1991	0.1939	0.179157	27698	154602	rs1803274	0.1952	0.1965	0.1955	0.1949	0.2300	0.1946	0.1944	0.2197	0.2156	0.1919	0.1175	0.1779	0.1388	0.1691	0.2300	0.2027	0.1945	0.1868	0.1828	0.1828	0.1846	0.1809	0.1978	0.1810	0.1802	0.1950	0.1939	0.1886	0.2121	0.1383	0.1763	0.1173	0.1653	0.2007	0.1978	0.1835	0.1677	0.093	0.31532	T	0.15	0.37872	T	0.001	0.07471	B	0.012	0.16012	B	0.019382	0.27268	N	0.339910	0.933173	0.27002	P	2.455	0.71248	M	-0.18	0.77336	T	-0.52	0.38151	N	0.036	0.01068	-1.0170	0.24690	T	0.001	0.00222	T	9	0.0018072128	0.00024	T	.	.	.	0.136	0.36778	.	.	.	.	0.26196509411827273	0.26109	0.0146452542494	0.01391	0.319616317749	0.13362	T	0.358518	0.74836	T	-0.467858	0.00877	T	-0.301002	0.44619	T	0.0211996116972123	0.00822	T	0.774123	0.42528	T	0.22133149	0.44708	0.23066719	0.48175	0.23999383	0.46897	0.20989761	0.45352	-5.147	0.38398	T	.	.	0.085	0.16538	B	.;.	.;.	3.292023	0.45157	22.1	0.99632838182915928	0.76142	0.91322	0.53300	D	AEFI	0.801494	0.72719	D	-0.00633166657305249	0.41567	2.488702	0.123040286207381	0.45729	2.831012	0.00173072517578264	0.08818	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.03	4.14	0.47821	4.438000	0.59704	2.697000	0.34132	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9138:0.0:0.0862	11.972	0.52358	900	0.24599	Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain;Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain	BCHE	Heart_Atrial_Appendage	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.201010	0.212121	0.191576	0.211310	0.250000	0.146552	0.240854	0.196970	0.35	6016.93	70	chr3	165773492	.	C	T	6016.93	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.407;DP=560;ExcessHet=1.4371;FS=0.795;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=1.06;SOR=0.645	GT:AD:DP:GQ:PL	0/1:30,39:69:99:859,0,718	4	1	5	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F,SLC2A2:NM_001278659:exon10:c.C918T:p.F306F,SLC2A2:NM_000340:exon11:c.C1437T:p.F479F	Fanconi-Bickel syndrome, Autosomal recessive	2	712	648	160	0	968	0.404682	.	.	.	135795	not_specified|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.367440	0.439394	0.398098	0.333333	0.450000	0.379310	0.328221	0.310606	0.25	7440.13	123	chr3	170998041	.	G	A	7440.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.814;DP=629;ExcessHet=0.2065;FS=4.301;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=-0.093;SOR=0.466	GT:AD:DP:GQ:PL	0/1:40,53:93:99:1253,0,1044	6	1	3	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	306	693	523	0	1739	0.739685	.	.	.	54598	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.6	45238.0	229	chr4	6300980	.	C	T	45238.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-1.734;DP=2513;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=20.08;ReadPosRankSum=0.358;SOR=0.66	GT:AD:DP:GQ:PL	1/1:0,253:253:99:7740,758,0	1	3	6	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.75	46735.1	192	chr4	6301295	.	C	T	46735.1	.	AC=15;AF=0.75;AN=20;BaseQRankSum=1.34;DP=2085;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=15;MLEAF=0.75;MQ=60;MQRankSum=0;QD=22.8;ReadPosRankSum=0.275;SOR=0.65	GT:AD:DP:GQ:PL	1/1:0,165:165:99:5323,495,0	0	5	5	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	13081.0	99	chr4	9783510	.	T	C	13081.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.042;DP=768;ExcessHet=0.0657;FS=2.059;InbreedingCoeff=0.3939;MLEAC=9;MLEAF=0.45;MQ=59.99;MQRankSum=0;QD=21.73;ReadPosRankSum=0.131;SOR=0.906	GT:AD:DP:GQ:PL	0/1:49,40:89:99:931,0,1288	4	3	3	0
chr4	36290704	36290704	G	T	splicing	DTHD1	NM_001136536:exon2:c.348+1G>T;NM_001170700:exon3:c.1218+1G>T;NM_001378435:exon2:c.348+1G>T	.	.	.	458	1062	2	0	0	2	0.000940734	1.0000	0.872	.	960537	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0007	0	0.0006	8.41e-05	13	154602	rs201876616	0.0003	0.0003	0.0003	0.0003	0.0060	0.0003	0.0003	0.0044	0.0038	0.0002	0.0003	0.0018	0	0	0.0060	0.0003	0.0005	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0001	0.0006	0	0	0.0032	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0400978	0.45933	T	0.0207819	0.71680	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.824565	0.78608	26.9	0.99182634738568465	0.54730	0.98683	0.85537	D	AEFDGI	.	.	.	0.966305751486612	0.94611	12.89425	0.766497122776446	0.87384	9.203458	0.999999994576326	0.74766	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.956066	0.63648	5.25	5.25	0.73169	5.213000	0.65064	9.716000	0.81349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.0:0.0:1.0:0.0	18.867	0.92268	687	0.59234	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	910.43	48	chr4	36290704	.	G	T	910.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.047;DP=409;ExcessHet=0;FS=8.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=-0.565;SOR=0.088	GT:AD:DP:GQ:PL	0/1:15,34:49:99:922,0,427	9	0	1	0
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.95	60600.1	212	chr4	38797027	.	C	A	60600.1	.	AC=19;AF=0.95;AN=20;BaseQRankSum=0.62;DP=2058;ExcessHet=0;FS=1.208;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=53.04;MQRankSum=-9.219;QD=30.19;ReadPosRankSum=-0.483;SOR=0.854	GT:AD:DP:GQ:PL	1/1:0,211:211:99:6772,633,0	0	9	1	0
chr4	70643631	70643631	T	C	exonic	ENAM	.	synonymous SNV	ENAM:NM_001368133:exon2:c.T1551C:p.S517S,ENAM:NM_031889:exon9:c.T2205C:p.S735S	Amelogenesis imperfecta, type IB, Autosomal dominant;Amelogenesis imperfecta, type IC, Autosomal recessive	1	1512	8	1	0	10	0.00329598	.	.	.	749048	not_provided|Amelogenesis_imperfecta	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.000399361	0.0007	0.0002	0.0003	0	0	0.0012	0	0.0001	0.0007115	110	154602	rs144225109	0.0009	0.0009	0.0009	0.0009	0.0035	0.0008	0.0008	0.0023	0.0019	0.0001	0.0004	0.0003	0	1.873e-05	0.0035	0.0011	0.0007	0.0001	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	7.216e-05	0	0.0003	0.0003	0	9.414e-05	0.0068	0.0007	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	869.43	35	chr4	70643631	.	T	C	869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.78;SOR=0.697	GT:AD:DP:GQ:PL	0/1:31,33:64:99:881,0,749	9	0	1	0
chr4	112585555	112585555	C	T	exonic	ZGRF1	.	nonsynonymous SNV	ZGRF1:NM_001350397:exon13:c.G3913A:p.E1305K,ZGRF1:NM_018392:exon14:c.G4087A:p.E1363K	.	431	1053	37	1	0	39	0.0181818	.	.	.	609195	Autism_spectrum_disorder|not_specified|Childhood_apraxia_of_speech	MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106|MedGen:CN169374|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	.	0.0111	0.0225639	0.0138	0.0209	0.0048	0.0375	0.0017	0.0085	0.0105	0.0300	0.0130011	2010	154602	rs76187047	0.0104	0.0104	0.0097	0.0110	0.0343	0.0102	0.0102	0.0304	0.0289	0.0195	0.0073	0.0122	0.0262	0.0032	0.0343	0.0083	0.0136	0.0278	0.0139	0.0139	0.0134	0.0144	0.0375	0.0134	0.0132	0.0332	0.0315	0.0218	0.0022	0.0111	0.0121	0.0375	0.0024	0.0442	0.0085	0.0142	0.0323	0.028	0.46129	D	0.01	0.65728	D	.	.	.	.	.	.	0.060740	0.22226	N	0.420266	0.994046	0.42141	D	2.255	0.64187	M	1.97	0.22067	T	-1.81	0.42575	N	0.073	0.26596	-1.1432	0.01243	T	0.014	0.05513	T	10	0.0037038028	0.00068	T	.	.	.	0.146	0.38789	.	.	.	.	0.16722565131691164	0.16642	0.390564189156	0.40270	.	.	.	0.019526	0.15543	T	-0.377251	0.03242	T	-0.282537	0.46544	T	0.0607054638258199	0.07279	T	0.935206	0.75689	D	0.16616397	0.36935	0.1621216	0.37675	0.16616397	0.36935	0.14595166	0.34594	-8.973	0.67523	D	.	.	0.532	0.65994	A	.;.	.;.	4.346339	0.66720	25.0	0.99904783146184883	0.97576	0.94849	0.62543	D	AEFBI	0.612136	0.60032	D	0.299453293933426	0.56122	3.776416	0.433071438704808	0.63637	4.601495	0.99999830824836	0.74766	0.732398	0.92422	0	0.601575	0.49859	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.65	5.65	0.86881	5.138000	0.64636	7.592000	0.61280	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.742	0.96232	861	0.33516	Zinc finger, GRF-type;Zinc finger, GRF-type	AC004057.1	Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.039778	0.060606	0.038043	0.064327	0.000000	0.043103	0.021341	0.026515	0.1	2447.12	33	chr4	112585555	.	C	T	2447.12	.	AC=2;AF=0.1;AN=20;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.79;SOR=0.815	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2470,255,0	9	1	0	0
chr4	153703504	153703504	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N	.	433	374	514	201	0	916	0.550481	.	.	.	3197327	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4947	0.414736	0.4113	0.6113	0.3166	0.2941	0.3755	0.4353	0.3833	0.3322	0.410745	63502	154602	rs3804099	0.4315	0.4315	0.4342	0.4288	0.6172	0.4306	0.4302	0.6102	0.6073	0.6172	0.3330	0.4315	0.3037	0.3765	0.4539	0.4448	0.4302	0.3318	0.4694	0.4697	0.4773	0.4612	0.6193	0.4665	0.4653	0.6129	0.6103	0.6193	0.3282	0.3800	0.4441	0.2870	0.3791	0.4592	0.4393	0.4748	0.3266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.447130	0.444444	0.479620	0.485380	0.650000	0.500000	0.384146	0.409091	0.45	15882.0	149	chr4	153703504	.	T	C	15882.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.259;DP=1208;ExcessHet=5.1594;FS=0.53;InbreedingCoeff=-0.4141;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.758;SOR=0.638	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1135,0,1252	2	1	7	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3793.86	25	chr5	13886135	.	CAAA	C	3793.86	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.075;DP=338;ExcessHet=0.2348;FS=1.041;InbreedingCoeff=-0.1111;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=22.72;ReadPosRankSum=0.503;SOR=0.563	GT:AD:DP:GQ:PL	0/1:4,3:9:32:81,0,178	3	0	7	0
chr5	37183388	37183388	G	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon26:c.C4793A:p.T1598K,CPLANE1:NM_023073:exon26:c.C4793A:p.T1598K	.	1	1495	26	0	0	26	0.00862069	.	.	.	501350	Joubert_syndrome_17|CPLANE1-related_disorder|not_provided	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.372	0.0807419754689	0.0002	0.000998403	0.0016	0	0.0005	0	0	0.0011	0.0033	0.0068	0.0013583	210	154602	rs147588579	0.0009	0.0009	0.0008	0.0011	0.0142	0.0009	0.0009	0.0117	0.0108	0	0.0007	0.0078	5.046e-05	0	0.0142	0.0004	0.0014	0.0060	0.0007	0.0006	0.0006	0.0007	0.0056	0.0005	0.0005	0.0040	0.0034	4.816e-05	0	0.0005	0.0069	0	0	0.0034	0.0005	0.0024	0.0056	0.006	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	0.004142	0.34057	N	0.135348	0.999693	0.48338	D	.	.	.	-0.54	0.70950	T	-2.66	0.56945	D	0.604	0.62188	-0.1695	0.78440	T	0.403	0.75381	T	10	0.008908778	0.00202	T	0.080742	0.73527	D	0.372	0.69102	.	.	0.719862766231	0.71739	0.5803039146120949	0.57959	0.567737995331	0.53022	.	.	.	0.261604	0.63310	T	-0.221754	0.17756	T	-0.0888375	0.64248	T	0.0432307516442965	0.04280	T	0.70313	0.31322	T	0.37255535	0.58773	0.46635535	0.69036	0.3774249	0.59129	0.46336356	0.68847	-2.85	0.08653	T	0.7843215179378638	0.86376	0.260	0.54961	B	.;.;.	.;.;.	4.583986	0.72443	25.8	0.9920629401552864	0.55442	0.98763	0.86538	D	AEFDGBI	0.866011	0.78530	D	0.702834520102275	0.79819	7.158825	0.741159903415864	0.85495	8.597776	0.999999999955175	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	8.872000	0.91982	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.265	0.93969	139	0.94486	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.004076	0.008772	0.000000	0.008621	0.006098	0.007576	0.05	2114.43	34	chr5	37183388	.	G	T	2114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.091;DP=502;ExcessHet=0;FS=2.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.523;SOR=0.661	GT:AD:DP:GQ:PL	0/1:77,79:156:99:2126,0,2023	9	0	1	0
chr5	38528850	38528853	ACAC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	18	95	41	30	42	143	0.347079	.	.	.	304338	Stuve-Wiedemann_syndrome|not_provided|not_specified	MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0911	0.0372	0.0443	0.0489	0.0192	0.1161	0.0842	0.0855	0.0001617	25	154602	rs762238623	0.0461	0.0603	0.0450	0.0472	0.0799	0.0457	0.0456	0.0721	0.0691	0.0315	0.0263	0.1433	0.0287	0.0396	0.0799	0.0450	0.0515	0.0496	0.0145	0.0146	0.0151	0.0140	0.0281	0.0140	0.0138	0.0267	0.0262	0.0281	0	0.0095	0.0479	0.0074	0.0073	0.0263	0.0077	0.0180	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4157.25	43	chr5	38528849	.	GACAC	G	4157.25	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.671;DP=398;ExcessHet=0.3701;FS=0;InbreedingCoeff=0.167;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=-0.189;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,12:25:99:.:.:891,395,359:.	6	0	4	0
chr5	38528850	38528851	AC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303937	not_provided|Stuve-Wiedemann_syndrome|Stüve-Wiedemann_syndrome_1	MedGen:C3661900|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3454	0.2017	0.3103	0.2720	0.2788	0.3796	0.3684	0.3566	0.0001423	22	154602	rs34759137	0.2992	0.3291	0.2912	0.3066	0.3471	0.2982	0.2977	0.3382	0.3366	0.1605	0.2828	0.4123	0.2437	0.3501	0.3471	0.2931	0.3145	0.3421	0.3263	0.3064	0.3244	0.3283	0.4408	0.3237	0.3227	0.4237	0.4168	0.1328	0.3872	0.3252	0.5692	0.3125	0.3579	0.4286	0.4208	0.3804	0.4408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4157.25	43	chr5	38528849	.	GAC	G	4157.25	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.671;DP=398;ExcessHet=0.3701;FS=0;InbreedingCoeff=0.167;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=-0.189;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,13:25:99:.:.:891,395,323:.	4	0	6	0
chr5	56815575	56815575	-	GGC	exonic	MAP3K1	.	nonframeshift insertion	MAP3K1:NM_005921:exon1:c.2_3insGGC:p.A5_G6insA	46XY sex reversal 6, Autosomal dominant	14	1507	1	0	0	1	0.000331675	.	.	.	985225	not_specified|46,XY_sex_reversal_6	MedGen:CN169374|MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0	.	0	0	.	0	0	0	0.0001153	3	26028	rs779149827	0.0007	0.0006	0.0007	0.0007	0.0055	0.0006	0.0006	0.0047	0.0044	0.0055	0.0009	0.0004	3.725e-05	0.0002	0.0003	0.0006	0.0007	0	0.0019	0.0019	0.0019	0.0019	0.0047	0.0017	0.0017	0.0042	0.0040	0.0047	0	0.0011	0.0012	0.0002	0	0	0.0010	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	425.4	20	chr5	56815575	.	T	TGGC	425.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.054;DP=153;ExcessHet=0;FS=1.871;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.39;ReadPosRankSum=-0.248;SOR=0.591	GT:AD:DP:GQ:PL	0/1:8,11:19:99:437,0,283	9	0	1	0
chr5	90622609	90622609	G	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon5:c.G466A:p.A156T	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1520	2	0	0	2	0.000657462	.	.	.	229319	not_specified|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.0181904717333	0.0002	0.000399361	0.0005	0.0003	0.0008	0	0	0.0002	0	0.0017	0.0002264	35	154602	rs201180985	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0012	0	0	0	0	0	0.0008	0.0001	0.0002	0.0016	0.0001	0.0001	6.428e-05	0.0002	0.0025	8.17e-05	6.726e-05	0.0014	0.0011	0	0	0	0	0	0	0	0.0001	0	0.0025	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.530732	0.11641	N	0.816543	0.999111	0.21609	N	.	.	.	1.04	0.40218	T	1.38	0.01136	N	0.055	0.02658	-0.9342	0.43515	T	0.024	0.10194	T	10	0.011057407	0.00243	T	0.01819	0.40170	T	0.037	0.09474	.	.	0.0716867268079	0.06686	0.17335955925859284	0.17255	0.0467174585816	0.05080	0.291355937719	0.09119	T	0.044397	0.26802	T	-0.636638	0.00087	T	-0.732814	0.04201	T	0.00605642890747815	0.00067	T	0.343566	0.07491	T	0.029734943	0.02516	0.050000682	0.07757	0.032493286	0.03284	0.045777597	0.06235	-2.271	0.04399	T	.	.	0.061	0.01143	B	.;.;.	.;.;.	0.395212	0.07666	4.337	0.15143179301752169	0.00360	0.11202	0.16476	N	AEFBI	0.036888	0.04985	N	-1.33280703634218	0.03306	0.1474735	-1.18544277025507	0.06152	0.2952454	0.110734227816061	0.16640	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.74	-1.11	0.09336	0.455000	0.21555	0.426000	0.18273	-0.549000	0.04906	0.933000	0.32380	0.001000	0.17328	0.189000	0.21571	0.4954:0.0:0.2648:0.2399	3.855	0.08479	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	787.43	40	chr5	90622609	.	G	A	787.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.619;DP=390;ExcessHet=0;FS=8.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.26;SOR=0.403	GT:AD:DP:GQ:PL	0/1:30,38:68:99:799,0,717	9	0	1	0
chr5	132588729	132588729	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon8:c.G1094A:p.R365Q	Nijmegen breakage syndrome-like disorder	0	1518	4	0	0	4	0.00131579	.	.	YES	133447	Hereditary_breast_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Nijmegen_breakage_syndrome-like_disorder|RAD50-related_disorder|Ovarian_cancer|not_specified|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|.|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.00697307627055	0.0003	0.000399361	0.0004	0	0.0002	0.0005	0	0.0006	0	0.0002	0.0003946	61	154602	rs146370443	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	5.975e-05	0.0002	3.827e-05	0.0005	9.361e-05	0.0009	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	4.828e-05	0	0.0003	0	0.0008	0.0004	0	0.0004	0.0005	0.0006	0.352	0.12226	T	0.447	0.23501	T	0.013	0.16609	B	0.003	0.08700	B	0.000394	0.44960	N	0.214869	0.954747	0.26358	N	2.045	0.56016	M	3.19	0.07353	T	-0.53	0.16393	N	0.215	0.24010	-0.9640	0.38409	T	0.018	0.07565	T	10	0.018426448	0.00401	T	0.006973	0.18458	T	0.077	0.22490	.	.	0.405700215632	0.40186	0.12579371767060307	0.12505	.	.	0.26303422451	0.05257	T	0.078765	0.35970	T	-0.532285	0.00372	T	-0.640456	0.09636	T	0.0303696812740507	0.02047	T	0.766923	0.40827	T	0.02597392	0.01598	0.030527333	0.01519	0.02597392	0.01597	0.030527333	0.01519	-5.043	0.37304	T	0.19981738974140087	0.26501	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	2.525130	0.32633	19.10	0.9942523093063208	0.63984	0.76733	0.37657	D	AEFBI	0.134178	0.25410	N	-0.429157971092481	0.24452	1.320385	-0.257658284455226	0.29509	1.653766	0.393482188844466	0.20067	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.97	4.22	0.49153	1.064000	0.30189	2.617000	0.33611	-0.106000	0.15538	0.963000	0.33788	0.636000	0.25890	0.933000	0.47100	0.2873:0.0:0.5675:0.1453	4.551	0.11512	827	0.39843	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	3153.43	34	chr5	132588729	.	G	A	3153.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.417;DP=607;ExcessHet=0;FS=0.941;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-1.335;SOR=0.629	GT:AD:DP:GQ:PL	0/1:137,134:271:99:3165,0,3135	9	0	1	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.5	13600.0	131	chr5	138556481	.	G	A	13600.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.729;DP=1022;ExcessHet=8.8523;FS=1.107;InbreedingCoeff=-0.6;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.205;SOR=0.789	GT:AD:DP:GQ:PL	1/1:0,94:94:99:2712,282,0	1	1	8	0
chr5	149041502	149041502	G	A	exonic	SH3TC2	.	synonymous SNV	SH3TC2:NM_024577:exon6:c.C645T:p.S215S	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	0	1456	66	0	0	66	0.0221625	.	.	.	135748	Inborn_genetic_diseases|not_specified|Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild|Charcot-Marie-Tooth_disease_type_4C|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0072	0.00738818	0.0094	0.0017	0.0028	0	0.0044	0.0102	0.0044	0.0225	0.0090296	1396	154602	rs80227512	0.0093	0.0093	0.0088	0.0099	0.0220	0.0092	0.0092	0.0212	0.0208	0.0014	0.0039	0.0145	2.519e-05	0.0054	0.0125	0.0093	0.0086	0.0220	0.0065	0.0065	0.0069	0.0061	0.0226	0.0062	0.0060	0.0191	0.0178	0.0018	0	0.0042	0.0161	0.0002	0.0038	0	0.0094	0.0061	0.0226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.009567	0.000000	0.005435	0.011696	0.050000	0.000000	0.018293	0.015152	0.05	2382.43	35	chr5	149041502	.	G	A	2382.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=528;ExcessHet=0;FS=2.395;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.11;SOR=0.533	GT:AD:DP:GQ:PL	0/1:112,94:206:99:2394,0,2628	9	0	1	0
chr5	169985868	169985868	T	C	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon29:c.T2939C:p.I980T	Immunodeficiency 40, Autosomal recessive	430	1089	3	0	0	3	0.00137552	.	.	.	721376	DOCK2_deficiency	MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.514	0.0158456984483	0.0009	0.000798722	0.0010	0	0.0006	0.0001	0.0008	0.0010	0	0.0026	0.0008861	137	154602	rs148694888	0.0008	0.0008	0.0007	0.0009	0.0034	0.0008	0.0008	0.0031	0.0029	8.98e-05	0.0006	0.0019	2.524e-05	0.0007	0.0024	0.0007	0.0007	0.0034	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0005	0.0010	0.0007	0.0001	0	0.0010	0.0009	0	0.0004	0	0.0008	0.0009	0.0019	0.001	0.78490	D	0.002	0.79402	D	0.993	0.65571	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999963	0.54805	D	2.56	0.74772	M	3.65	0.04267	T	-3.64	0.69835	D	0.86	0.85660	-1.1941	0.00199	T	0.046	0.19680	T	10	0.070332766	0.10217	T	0.015846	0.36807	T	0.514	0.79217	.	.	0.783073622163	0.78106	0.6449570072435366	0.64430	1.59919968995	0.88670	0.789665818214	0.80391	T	0.462914	0.79908	T	-0.0959517	0.37093	T	0.0844689	0.75877	D	0.067292109131813	0.08266	T	0.848915	0.53103	T	0.694089	0.77734	0.5827619	0.75810	0.691178	0.77577	0.56450844	0.74797	-10.519	0.76956	D	.	.	0.460	0.62674	A	.;.	.;.	4.796339	0.77887	26.8	0.99827943881106218	0.91026	0.98385	0.82238	D	AEFBI	0.896280	0.83718	D	0.713393650631618	0.80511	7.310196	0.678330182061529	0.80736	7.365828	0.999999999999368	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.33	5.33	0.75683	8.017000	0.88732	6.144000	0.54095	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.328	0.73896	962	0.08456	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1932.43	35	chr5	169985868	.	T	C	1932.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.032;DP=518;ExcessHet=0;FS=1.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-0.106;SOR=0.837	GT:AD:DP:GQ:PL	0/1:99,84:183:99:1944,0,2439	9	0	1	0
chr6	2954589	2954589	C	T	intronic	SERPINB6	.	.	.	.	0	1516	6	0	0	6	0.00197498	0.0002	0.1	.	174493	Autosomal_recessive_nonsyndromic_hearing_loss_91|not_specified|not_provided	MONDO:MONDO:0013269,MedGen:C3150704,OMIM:613453,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	0.000998403	0.0004	9.669e-05	0.0004	0	0	0.0003	0	0.0018	0.000414	64	154602	rs201080069	0.0003	0.0003	0.0003	0.0004	0.0068	0.0003	0.0003	0.0051	0.0045	9.027e-05	0.0006	3.84e-05	2.523e-05	1.874e-05	0.0068	0.0002	0.0005	0.0017	0.0003	0.0003	0.0003	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	9.623e-05	0	0.0005	0	0	0	0.0034	0.0002	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	962.43	33	chr6	2954589	.	C	T	962.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.181;DP=379;ExcessHet=0;FS=3.61;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=1.89;SOR=1.278	GT:AD:DP:GQ:PL	0/1:26,38:64:99:974,0,576	9	0	1	0
chr6	6318562	6318562	C	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon2:c.G103T:p.V35L	Factor XIIIA deficiency, Autosomal recessive	18	1151	323	30	0	383	0.142644	.	.	.	31571	not_specified|not_provided|Factor_XIII,_A_subunit,_deficiency_of|Myocardial_infarction,_protection_against|Venous_thrombosis,_protection_against	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:C3277063|MedGen:C2751120	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.216	.	0.2281	0.147764	0.2059	0.1840	0.2566	0.0006	0.2123	0.2486	0.2126	0.1163	0.204499	31616	154602	rs5985	0.2350	0.2350	0.2386	0.2313	0.2581	0.2343	0.2340	0.2573	0.2570	0.1795	0.2536	0.1703	0.0008	0.2069	0.1336	0.2581	0.2120	0.1164	0.2150	0.2153	0.2200	0.2098	0.2557	0.2131	0.2123	0.2525	0.2512	0.1844	0.3717	0.2302	0.1696	0.0023	0.2059	0.1258	0.2557	0.2075	0.1167	1.0	0.53172	T	0.428	0.13792	T	.	.	.	.	.	.	0.549870	0.11447	N	0.784671	1	0.08975	P	.	.	.	-2.06	0.85875	D	-0.27	0.47683	N	0.018	0.00252	-1.0984	0.04290	T	0.089	0.34160	T	9	0.0058254898	0.00130	T	.	.	.	0.216	0.50959	0.521	0.62368	.	.	0.251286304130597	0.25042	0.218364611194	0.24371	0.279310077429	0.07396	T	0.006489	0.05922	T	-0.532642	0.00371	T	-0.394059	0.34077	T	0.000545350228055955	0.00005	T	0.29797	0.05545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.04847	B	.;.;.	.;.;.	-1.135760	0.00599	0.015	0.36128701424949611	0.02307	0.01153	0.04166	N	AEFDBI	0.092907	0.18803	N	-1.50731017501558	0.01801	0.07894147	-1.43471435441821	0.02911	0.1348284	0.99996711313162	0.48965	0.615465	0.37627	0	0.633656	0.55848	0	0.535252	0.11790	0	0.542086	0.14980	0	.	.	4.64	1.89	0.24700	-0.148000	0.10203	-0.167000	0.11264	-1.952000	0.00483	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0869:0.1605:0.5922:0.1605	4.197	0.09908	975	0.05339	.;.;.	.	.	.	.	rs5985	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.125256	0.095745	0.116848	0.130178	0.350000	0.129310	0.136943	0.114504	0.15	2800.45	34	chr6	6318562	.	C	A	2800.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.835;DP=474;ExcessHet=0.7463;FS=1.013;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.944;SOR=0.779	GT:AD:DP:GQ:PL	0/1:23,49:72:99:1215,0,421	7	0	3	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8	85878.4	534	chr6	7585734	.	G	C	85878.4	.	AC=16;AF=0.8;AN=20;BaseQRankSum=2.8;DP=3661;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=0.224;SOR=0.671	GT:AD:DP:GQ:PL	1/1:0,306:306:99:10085,919,0	0	6	4	0
chr6	15593088	15593088	-	A	intronic	DTNBP1	.	.	.	Hermansky-Pudlak syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299547	not_provided|not_specified|Hermansky-Pudlak_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1750	0.2290	0.1567	0.2439	0.1055	0.1306	0.1648	0.2463	0.0002305	6	26028	rs199770715	0.2097	0.2189	0.2101	0.2093	0.2861	0.2090	0.2087	0.2813	0.2793	0.2759	0.1805	0.1867	0.2861	0.1271	0.2397	0.2068	0.2173	0.2499	0.1777	0.1747	0.1766	0.1789	0.3401	0.1758	0.1750	0.3264	0.3209	0.2501	0.0721	0.1769	0.1399	0.3401	0.0776	0.1556	0.1316	0.1878	0.2487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1595.53	95	chr6	15593088	.	G	GA	1595.53	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.02;DP=510;ExcessHet=7.0302;FS=4.221;InbreedingCoeff=-0.5339;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=-0.364;SOR=0.861	GT:AD:DP:GQ:PL	0/1:18,18:37:99:310,0,367	5	0	5	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	13777.0	58	chr6	32039081	.	C	A	13777.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=1.09;DP=700;ExcessHet=5.1594;FS=2.742;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=21.13;ReadPosRankSum=1.29;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,29:50:99:.:.:809,0,508:.	1	2	7	0
chr6	32041874	32041874	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1817A:p.S606N,TNXB:NM_001365276:exon43:c.G12530A:p.S4177N,TNXB:NM_019105:exon43:c.G12524A:p.S4175N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	156	1167	186	13	0	212	0.0832679	.	.	.	188198	not_specified|not_provided|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.224	.	.	.	0.2369	0.3095	0.2	0.1429	0	0.2778	0.1795	0.2191	0.0010758	28	26028	rs199953230	0.0630	0.0905	0.0592	0.0664	0.1302	0.0624	0.0622	0.1249	0.1228	0.1302	0.0596	0.1009	0.0097	0.0564	0.0714	0.0578	0.0619	0.1021	0.0672	0.1011	0.0661	0.0684	0.1241	0.0658	0.0652	0.1200	0.1183	0.1241	0.0690	0.0633	0.0770	0.0199	0.0294	0.0337	0.0503	0.0673	0.0711	0.551	0.14996	T	1.0	0.01155	T	.	.	.	.	.	.	0.000041	0.53742	N	0.000000	1	0.08975	N	.	.	.	-1.13	0.77719	T	1.79	0.01121	N	0.06	0.07125	-1.0357	0.18637	T	0.077	0.30737	T	10	0.001997441	0.00028	T	.	.	.	0.224	0.52174	.	.	.	.	0.07582235178256264	0.07518	1.53742651601	0.87669	0.813815176487	0.84078	D	0.002058	0.01461	T	-0.234486	0.16060	T	-0.574599	0.15031	T	0.00591933667003544	0.00065	T	0.0176649	0.00099	T	0.06130841	0.12681	0.061310552	0.11818	0.06130841	0.12681	0.061310552	0.11817	-1.845	0.03461	T	0.1229657868823964	0.11852	0.050	0.00315	B	.;.;.;.;.	.;.;.;.;.	1.709254	0.21764	15.34	0.88167499122725401	0.17767	0.04006	0.09432	N	AEFGI	0.064479	0.12523	N	-0.809593627523601	0.13065	0.6410341	-0.628300974256214	0.18767	1.004015	0.0322796501112813	0.14047	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	0.728000	0.25682	.	.	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.988000	0.63387	0.0:0.1752:0.0:0.8248	7.621	0.27353	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.162000	0.108696	0.195067	0.092593	0.000000	0.112903	0.107692	0.212329	0.2	530.92	25	chr6	32041874	.	C	T	530.92	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.17;DP=235;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.2566;MLEAC=4;MLEAF=0.2;MQ=30.06;MQRankSum=-0.866;QD=3.82;ReadPosRankSum=0.878;SOR=0.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,6:29:99:0|1:32041857_C_T:183,0,948:32041857	6	0	4	0
chr6	32041884	32041884	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1807A:p.D603N,TNXB:NM_001365276:exon43:c.G12520A:p.D4174N,TNXB:NM_019105:exon43:c.G12514A:p.D4172N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	196	1075	234	17	0	268	0.110835	.	.	.	188199	not_provided|not_specified|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.573	.	.	.	0.3540	0.3552	0.2576	0.2614	0.25	0.3279	0.3235	0.3705	0.0028815	75	26028	rs200523717	0.0936	0.1128	0.0868	0.0996	0.1959	0.0929	0.0926	0.1926	0.1913	0.1491	0.0685	0.1155	0.0517	0.0767	0.0855	0.0816	0.0909	0.1959	0.0934	0.1198	0.0902	0.0970	0.1735	0.0916	0.0909	0.1588	0.1531	0.1512	0.0543	0.0817	0.0987	0.0567	0.0481	0.0455	0.0740	0.0915	0.1735	0.0	0.91255	D	0.013	0.65728	D	.	.	.	.	.	.	0.000063	0.52346	D	0.000000	0.996006	0.53665	D	.	.	.	-2.09	0.86077	D	-3.33	0.76655	D	0.197	0.60241	0.625	0.92223	D	0.742	0.91206	D	10	0.008031756	0.00182	T	.	.	.	0.573	0.82686	.	.	.	.	0.6407622812908406	0.64011	2.90588491431	0.99094	0.832190692425	0.86898	D	0.145862	0.48318	T	-0.011318	0.50081	T	-0.254034	0.49419	T	0.0173785942299874	0.00476	T	0.856614	0.67171	D	0.72789073	0.79605	0.6560945	0.79863	0.72789073	0.79606	0.6560945	0.79864	-9.574	0.71400	D	0.1226877263887742	0.11790	0.685	0.72405	P	.;.;.;.;.	.;.;.;.;.	5.229507	0.87781	29.4	0.99892685643528023	0.96666	0.96837	0.71207	D	AEFGI	0.734139	0.68036	D	0.721571237210364	0.81047	7.431562	0.669935722984053	0.80102	7.224991	0.998872174677663	0.37868	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	5.028000	0.63895	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.619	0.84780	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.190000	0.125000	0.195980	0.058140	0.000000	0.171875	0.163793	0.272059	0.2222	933.1	21	chr6	32041884	.	C	T	933.1	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.861;DP=209;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.2921;MLEAC=4;MLEAF=0.222;MQ=29.62;MQRankSum=-1.01;QD=7.52;ReadPosRankSum=1.34;SOR=0.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,5:23:99:0|1:32041857_C_T:156,0,741:32041857	5	0	4	1
chr6	35510849	35510849	C	G	intronic	TULP1	.	.	.	Leber congenital amaurosis 15, Autosomal recessive;Retinitis pigmentosa 14, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	302611	Leber_congenital_amaurosis_15|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843,Orphanet:65|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0039	0.00479233	0.0023	0.0054	0.0042	0.0013	0.0002	0.0022	0.0022	0.0007	0.0023609	365	154602	rs185636479	0.0020	0.0020	0.0020	0.0020	0.0087	0.0020	0.0020	0.0068	0.0061	0.0066	0.0060	0.0001	0.0011	0.0001	0.0087	0.0019	0.0028	0.0009	0.0034	0.0034	0.0035	0.0034	0.0081	0.0032	0.0031	0.0069	0.0065	0.0054	0	0.0081	0	0.0017	9.411e-05	0.0136	0.0020	0.0095	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	737.43	47	chr6	35510849	.	C	G	737.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.496;DP=409;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.097;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,32:57:99:0|1:35510835_G_A:749,0,675:35510835	9	0	1	0
chr6	35805713	35805713	C	T	exonic	LHFPL5	.	nonsynonymous SNV	LHFPL5:NM_182548:exon1:c.C43T:p.H15Y	Deafness, autosomal recessive 67, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	229480	not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_67	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012460,MedGen:C1853223,OMIM:610265,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.782	0.109857085369	0.0008	0.00219649	0.0006	0.0012	0.0019	0	0	0.0005	0	0.0002	0.0005951	92	154602	rs149941106	0.0004	0.0004	0.0004	0.0004	0.0029	0.0004	0.0004	0.0019	0.0017	0.0012	0.0022	0.0001	2.519e-05	0	0.0029	0.0003	0.0006	0.0001	0.0009	0.0009	0.0010	0.0008	0.0024	0.0008	0.0007	0.0017	0.0015	0.0018	0	0.0024	0	0	0	0.0034	0.0004	0.0014	0	0.067	0.35918	T	0.004	0.74150	D	0.981	0.59675	D	0.954	0.69447	D	0.000000	0.84330	N	0.043666	1	0.81001	D	.	.	.	-1.13	0.77719	T	-3.16	0.64246	D	0.89	0.88909	0.215	0.86162	D	0.590	0.85342	D	10	0.045241386	0.03571	T	0.109857	0.78700	D	0.782	0.92746	.	.	0.629593947353	0.62656	.	.	1.10494106084	0.77866	0.911390304565	0.97600	D	0.546313	0.84557	D	-0.0184351	0.49077	T	0.194885	0.82847	D	0.031123512735974	0.02166	T	0.957304	0.83911	D	0.39673236	0.60505	0.4184864	0.65870	0.39673236	0.60505	0.4184864	0.65870	-8.443	0.64051	D	.	.	0.423	0.60836	A	.;.	.;.	4.886039	0.80171	27.3	0.99809163793382527	0.89353	0.91931	0.54574	D	AEFDBHCI	0.946142	0.95527	D	0.813095889915728	0.86918	9.042199	0.787520777740661	0.88911	9.764204	0.999999999996011	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.33	5.33	0.75683	7.828000	0.84883	7.705000	0.66497	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.040	0.92974	485	0.77085	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2021.43	38	chr6	35805713	.	C	T	2021.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.661;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.789;SOR=0.656	GT:AD:DP:GQ:PL	0/1:86,84:170:99:2033,0,2184	9	0	1	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	1861.73	5	chr6	42963889	.	GTTTA	G	1861.73	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.674;DP=69;ExcessHet=0;FS=0;InbreedingCoeff=0.6781;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=31.18;ReadPosRankSum=-1.383;SOR=2.049	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0	3	6	1	0
chr6	52050144	52050144	A	C	intronic	PKHD1	.	.	.	Polycystic kidney and hepatic disease, Autosomal recessive	0	1484	35	3	0	41	0.0136258	.	.	.	192861	not_specified|not_provided|Autosomal_recessive_polycystic_kidney_disease	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0070	0.00419329	0.0058	0.0016	0.0051	0	0.0012	0.0087	0.0067	0.0022	0.0060931	942	154602	rs188914598	0.0087	0.0087	0.0090	0.0085	0.0164	0.0086	0.0085	0.0136	0.0126	0.0018	0.0065	0.0040	0	0.0013	0.0164	0.0103	0.0082	0.0024	0.0057	0.0057	0.0060	0.0055	0.0090	0.0054	0.0053	0.0081	0.0079	0.0019	0.0011	0.0090	0.0052	0	0.0015	0.0272	0.0087	0.0090	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	985.43	41	chr6	52050144	.	A	C	985.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.262;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.56;SOR=0.597	GT:AD:DP:GQ:PL	0/1:33,41:74:99:997,0,767	9	0	1	0
chr6	107876670	107876670	-	AA	intronic	SEC63	.	.	.	Polycystic liver disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	301016	Polycystic_liver_disease_1|Polycystic_liver_disease_2|not_provided	MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027278	71	26028	rs749125299	0.1375	0.1591	0.1371	0.1380	0.1657	0.1368	0.1364	0.1514	0.1458	0.1372	0.1235	0.1475	0.1060	0.1498	0.1657	0.1397	0.1464	0.1241	0.1681	0.1681	0.1687	0.1674	0.1888	0.1661	0.1653	0.1847	0.1830	0.1888	0.1671	0.1785	0.1605	0.1144	0.1398	0.2468	0.1609	0.1787	0.1661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1207.94	17	chr6	107876670	.	C	CAA	1207.94	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.253;DP=255;ExcessHet=1.5895;FS=4.229;InbreedingCoeff=-0.2425;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.201;SOR=0.297	GT:AD:DP:GQ:PL	1/1:0,5:5:15:117,15,0	7	1	2	0
chr6	131847856	131847856	-	GT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	306046	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive|not_specified	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099124	258	26028	rs879243445	0.1164	0.1420	0.1109	0.1218	0.2260	0.1159	0.1156	0.2219	0.2202	0.0541	0.1701	0.1677	0.2260	0.1618	0.1174	0.1025	0.1337	0.1540	0.2005	0.2032	0.1967	0.2045	0.3235	0.1985	0.1977	0.3101	0.3047	0.0963	0.1496	0.2623	0.2420	0.3235	0.2116	0.2176	0.2296	0.2147	0.2345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1937.08	19	chr6	131847856	.	G	GGT	1937.08	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.067;DP=332;ExcessHet=15.1594;FS=4.66;InbreedingCoeff=-0.7711;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.176;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,6:23:83:.:.:83,0,390:.	6	1	3	0
chr6	152325079	152325079	A	T	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	2	1515	5	0	0	5	0.00164745	0.0001	0.004	.	272873	Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided	MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0005	0	0	0	0	0.0006	0.0011	0.0015	0.0004786	74	154602	rs199779021	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0003	0.0009	0.0007	0	0.0002	0.0077	0	0	0.0017	7.374e-05	0.0009	0.0009	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0002	9.05e-05	7.014e-05	2.413e-05	0	0.0001	0.0107	0	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	340.43	33	chr6	152325079	.	A	T	340.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.702;DP=328;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.722;SOR=1.148	GT:AD:DP:GQ:PL	0/1:12,12:24:99:352,0,327	9	0	1	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.6	11125.0	60	chr6	159692840	.	A	G	11125.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=2.36;DP=635;ExcessHet=2.8549;FS=0.649;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.536;SOR=0.811	GT:AD:DP:GQ:PL	0/1:32,29:61:99:861,0,937	1	3	6	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q,TBP:NM_003194:exon3:c.G228A:p.Q76Q	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	136006	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.222904	0.295699	0.183924	0.233918	0.250000	0.155172	0.208861	0.189394	0.55	14892.7	98	chr6	170561964	.	G	A	14892.7	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.521;DP=1587;ExcessHet=1.5895;FS=1.983;InbreedingCoeff=-0.25;MLEAC=11;MLEAF=0.55;MQ=59.98;MQRankSum=0;QD=17.24;ReadPosRankSum=3.16;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,32:64:99:1|0:170561949_GCAA_G:3249,1295,1137:170561949	1	2	7	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	31574.0	113	chr7	21867834	.	G	GT	31574.0	.	AC=15;AF=0.75;AN=20;BaseQRankSum=-0.42;DP=933;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=15;MLEAF=0.75;MQ=60;MQRankSum=0;QD=32.21;ReadPosRankSum=-0.799;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,79:79:99:1|1:21867834_G_GT:3522,238,0:21867834	1	6	3	0
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	3364.4	36	chr7	30633896	.	TA	T	3364.4	.	AC=12;AF=0.667;AN=18;BaseQRankSum=1.31;DP=304;ExcessHet=0.8432;FS=0;InbreedingCoeff=-0.0036;MLEAC=11;MLEAF=0.611;MQ=60;MQRankSum=0;QD=18.69;ReadPosRankSum=-0.306;SOR=0.802	GT:AD:DP:GQ:PL	0/1:6,6:15:90:118,0,90	1	4	4	1
chr7	56019599	56019599	C	-	splicing	PSPH	NM_001370504:exon5:c.275+1G>-;NM_004577:exon5:c.275+1G>-;NM_001370519:exon6:c.275+1G>-;NM_001370508:exon7:c.275+1G>-;NM_001370507:exon6:c.275+1G>-;NM_001370503:exon5:c.275+1G>-;NM_001370506:exon6:c.275+1G>-;NM_001370505:exon6:c.275+1G>-;NM_001370521:exon7:c.275+1G>-;NM_001370520:exon7:c.275+1G>-;NM_001370522:exon6:c.275+1G>-;NM_001370511:exon6:c.275+1G>-;NM_001370510:exon4:c.275+1G>-;NM_001370509:exon4:c.275+1G>-;NM_001370518:exon8:c.275+1G>-;NM_001370517:exon7:c.275+1G>-;NM_001370516:exon6:c.275+1G>-;NM_001370515:exon6:c.275+1G>-;NM_001370514:exon5:c.275+1G>-;NM_001370513:exon6:c.275+1G>-;NM_001370512:exon5:c.275+1G>-	.	.	Phosphoserine phosphatase deficiency, Autosomal recessive	0	1113	409	0	0	409	0.155218	.	.	.	389820	not_provided|Neurometabolic_disorder_due_to_serine_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.0173	0.0010	0.0043	0.0025	0.0014	0.0045	0.0154	0.0112571	293	26028	rs139106189	0.0280	0.1150	0.0264	0.0296	0.2882	0.0277	0.0276	0.2824	0.2801	0.2458	0.0506	0.0260	0.2882	0.0782	0.0707	0.0123	0.0428	0.0570	0.2421	0.2770	0.2385	0.2459	0.4694	0.2399	0.2390	0.4634	0.4610	0.4694	0.0600	0.2217	0.1153	0.4012	0.1785	0.1468	0.1173	0.2195	0.2924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1084.41	31	chr7	56019598	.	AC	A	1084.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.725;DP=286;ExcessHet=0.7463;FS=1.794;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.9;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.113;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,13:46:99:0|1:56019585_C_A:447,0,1347:56019585	7	0	3	0
chr7	80671097	80671097	C	A	exonic	CD36	.	stopgain	CD36:NM_001289908:exon6:c.C822A:p.C274X,CD36:NM_001371080:exon7:c.C474A:p.C158X,CD36:NM_001127444:exon8:c.C939A:p.C313X,CD36:NM_001289909:exon8:c.C759A:p.C253X,CD36:NM_001289911:exon8:c.C711A:p.C237X,CD36:NM_001127443:exon9:c.C939A:p.C313X,CD36:NM_000072:exon10:c.C939A:p.C313X,CD36:NM_001001547:exon10:c.C939A:p.C313X,CD36:NM_001001548:exon10:c.C939A:p.C313X,CD36:NM_001371074:exon10:c.C939A:p.C313X,CD36:NM_001371075:exon10:c.C939A:p.C313X,CD36:NM_001371077:exon10:c.C939A:p.C313X,CD36:NM_001371078:exon10:c.C939A:p.C313X,CD36:NM_001371079:exon10:c.C837A:p.C279X,CD36:NM_001371081:exon10:c.C474A:p.C158X	Platelet glycoprotein IV deficiency, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	YES	3512231	CD36-related_disorder	.	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs762366674	2.602e-05	2.668e-05	2.725e-05	2.477e-05	0.0016	1.934e-05	1.694e-05	0.0008	0.0006	0	4.473e-05	0	0	0	0.0016	1.53e-05	6.63e-05	6.957e-05	6.575e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.946	0.95725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381268	0.88790	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;.;Recessive;Recessive;Recessive;.	High;High;.;.;.;High;High;High;.	7.456890	0.96536	36	0.99433755170560567	0.64423	0.84997	0.44096	D	AEFCI	0.525168	0.54805	D	0.743991273880416	0.82511	7.781182	0.552848325746953	0.71596	5.678917	0.237080001196318	0.18530	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	2.81	0.31971	0.046000	0.13919	-0.001000	0.13204	-0.257000	0.07002	0.860000	0.30612	0.776000	0.26740	0.990000	0.65344	0.0:0.7091:0.0:0.2909	9.416	0.37686	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	697.43	39	chr7	80671097	.	C	A	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.825;DP=375;ExcessHet=0;FS=1.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.386;SOR=0.951	GT:AD:DP:GQ:PL	0/1:25,31:56:99:709,0,569	9	0	1	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	8843.54	65	chr7	92499847	.	CA	C	8843.54	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.302;DP=600;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=-0.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,22:43:99:.:.:527,0,331:.	0	3	7	0
chr7	103989356	103989356	-	GCCGCCGCCGCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGCGGCGGCGGC;NM_005045:c.-1_0insGGCGGCGGCGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	309190	not_provided|RELN-related_disorder|not_specified|Lissencephaly,_Recessive	MedGen:C3661900|.|MedGen:CN169374|MedGen:CN239458	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0.0066	0.0001	0	0.0022	0.0003428	53	154602	rs587780434	0.0232	0.0234	0.0237	0.0227	0.0537	0.0230	0.0229	0.0513	0.0504	0.0172	0.0179	0.0128	0.0537	0.0166	0.0282	0.0223	0.0264	0.0361	0.0350	0.0353	0.0342	0.0359	0.1230	0.0342	0.0339	0.1147	0.1114	0.0238	0.0280	0.0447	0.0258	0.0922	0.0272	0.0396	0.0309	0.0442	0.1230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	20378.1	48	chr7	103989356	.	T	TGCCGCCGCCGCCGCC	20378.1	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.13;DP=765;ExcessHet=0;FS=3.324;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=29.37;ReadPosRankSum=-1.003;SOR=1.289	GT:AD:DP:GQ:PL	0/1:21,29:50:99:1117,0,739	9	0	1	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|Childhood_apraxia_of_speech|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4975.96	73	chr7	114663436	.	A	AT	4975.96	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.666;DP=513;ExcessHet=5.1594;FS=1.747;InbreedingCoeff=-0.4141;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.848;SOR=0.849	GT:AD:DP:GQ:PL	0/1:34,19:53:99:357,0,843	2	1	7	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.9	34657.8	124	chr7	127611134	.	T	G	34657.8	.	AC=18;AF=0.9;AN=20;BaseQRankSum=1.15;DP=1270;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=18;MLEAF=0.9;MQ=60;MQRankSum=0;QD=28.02;ReadPosRankSum=1.9;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3628,339,0	0	8	2	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1481.98	80	chr7	131505863	.	C	T	1481.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.554;DP=868;ExcessHet=10.3881;FS=183.687;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.52;SOR=10.796	GT:AD:DP:GQ:PL	0/1:59,19:78:77:77,0,1212	2	0	8	0
chr7	140734797	140734797	-	A	intronic	BRAF	.	.	.	Adenocarcinoma of lung, somatic;Cardiofaciocutaneous syndrome, Autosomal dominant;Colorectal cancer, somatic (3);LEOPARD syndrome 3, Autosomal dominant;Melanoma, malignant, somatic (3);Nonsmall cell lung cancer, somatic (3);Noonan syndrome 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	302001	not_specified|Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome|Cardio-facio-cutaneous_syndrome	MedGen:CN169374|MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.8742	0.7482	0.9238	0.9181	0.8901	0.8737	0.8776	0.8631	0.0001153	3	26028	rs397813649	0.8401	0.7641	0.8452	0.8349	0.8519	0.8386	0.8379	0.8502	0.8495	0.6242	0.8409	0.8259	0.8332	0.8231	0.8187	0.8519	0.8244	0.7675	0.8154	0.7916	0.8130	0.8183	0.8832	0.8111	0.8093	0.8681	0.8619	0.6770	0.7105	0.8832	0.8663	0.8820	0.8731	0.8107	0.8558	0.8501	0.8560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6875	1383.42	6	chr7	140734797	.	G	GA	1383.42	.	AC=11;AF=0.688;AN=16;BaseQRankSum=0;DP=80;ExcessHet=0;FS=0;InbreedingCoeff=0.3465;MLEAC=11;MLEAF=0.688;MQ=60;MQRankSum=0;QD=36.48;ReadPosRankSum=0.674;SOR=2.226	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,2:2:6:.:.:57,6,0:.	2	5	1	2
chr7	142749524	142749524	C	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon1:c.C40G:p.L14V	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1184	338	0	0	338	0.124908	0	0.172	.	933718	Hereditary_pancreatitis|not_provided	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.221	.	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs747228052	0.0163	0.0916	0.0159	0.0166	0.0302	0.0161	0.0160	0.0284	0.0277	0.0302	0.0266	0.0367	0.0149	0.0869	0.0146	0.0136	0.0244	0.0024	0.3494	0.3861	0.3542	0.3444	0.4130	0.3464	0.3452	0.4068	0.4042	0.4130	0.3354	0.3561	0.3511	0.1063	0.3526	0.2554	0.3440	0.3432	0.1690	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.089679	0.20415	N	0.498441	0.999154	0.21565	N	-0.055	0.04927	N	-3.18	0.93111	D	1.4	0.00835	N	0.1	0.09631	-0.6563	0.62439	T	0.520	0.82091	D	10	0.09526378	0.17002	T	0.081841	0.73770	D	0.221	0.51721	.	.	0.74833783201	0.74606	0.6303402522407332	0.62968	0.16419798022	0.18528	0.351473480463	0.18139	T	0.18894	0.54300	T	-0.0866624	0.38626	T	-0.362261	0.37790	T	0.0625269785523415	0.07561	T	.	.	.	0.03509291	0.04065	0.09660669	0.22962	0.03509291	0.04065	0.09660669	0.22961	-3.639	0.18422	T	.	.	0.061	0.01042	B	.;.;.	.;.;.	0.943023	0.13190	9.689	0.10035292204727132	0.00117	0.01979	0.05984	N	AEFDBI	0.044097	0.07052	N	-0.973998565507978	0.09162	0.4324695	-0.844955323986839	0.13408	0.6954354	0.00552028722970171	0.10963	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.32	2.43	0.28797	2.003000	0.40464	.	.	-0.319000	0.05888	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.1794:0.8206:0.0	11.878	0.51835	776	0.48302	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	610.14	34	chr7	142749524	.	C	G	610.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=5.96;DP=1168;ExcessHet=0.2348;FS=16.89;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.39;MQRankSum=-15.65;QD=1.13;ReadPosRankSum=-0.894;SOR=2.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,31:266:99:0|1:142749506_A_G:594,0,9748:142749506	8	0	2	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	788	734	0	0	734	0.317749	.	.	YES	46925	not_provided|Recurrent_pancreatitis|Hereditary_pancreatitis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	0.009060	0.025974	0.000000	0.004274	0.062500	0.000000	0.031915	0.008000	0.4	13406.0	34	chr7	142750561	.	C	T	13406.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.94;DP=1250;ExcessHet=10.3881;FS=5.367;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=56.35;MQRankSum=-8.85;QD=11.68;ReadPosRankSum=-0.592;SOR=0.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,44:117:99:.:.:1437,0,1827:.	2	0	8	0
chr7	142750675	142750675	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.A161G:p.N54S	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1165	357	0	0	357	0.132862	.	.	.	26920	not_specified|Hereditary_pancreatitis	MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	.	.	0.0354	0.0748	0.0127	0.0043	0.0416	0.0323	0.0528	0.0537	0.0003842	10	26028	rs144422014	0.0485	0.1673	0.0431	0.0541	0.1643	0.0482	0.0480	0.1599	0.1580	0.1117	0.1643	0.1341	0.0273	0.2064	0.0482	0.0386	0.0676	0.0350	0.2790	0.3612	0.2847	0.2732	0.3794	0.2760	0.2748	0.3726	0.3698	0.3794	0.2481	0.2697	0.2695	0.0620	0.2849	0.1951	0.2592	0.2679	0.0988	0.448	0.09075	T	0.623	0.13912	T	0.0	0.02946	B	0.001	0.04355	B	0.001478	0.38917	N	0.304664	6.371e-07	0.08975	A	-0.23	0.03940	N	-2.87	0.91478	D	-1.05	0.28290	N	0.04	0.03726	-0.6892	0.60945	T	0.247	0.61600	T	9	0.0784502	0.12504	T	.	.	.	0.355	0.67600	.	.	.	.	0.5012227439210316	0.50044	0.128612980855	0.14499	0.257050007582	0.04546	T	0.49228	0.81630	T	-0.0785813	0.39944	T	-0.350653	0.39129	T	0.0736112371087074	0.09149	T	.	.	.	0.2644275	0.49510	0.109853335	0.26482	0.094889425	0.22319	0.06812106	0.14182	-6.432	0.49759	T	.	.	0.070	0.03698	B	.;.;.;.	.;.;.;.	-2.080381	0.00084	0.001	0.26841523162452846	0.01304	0.01504	0.04979	N	AEFDBI	0.151876	0.27644	N	-1.8369064160701	0.00461	0.0198398	-1.85065327251252	0.00610	0.02711572	0.9475443675706	0.27758	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	-6.32	0.01820	-1.848000	0.01766	.	.	-3.345000	0.00094	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4768:0.1255:0.3977:0.0	6.959	0.23768	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.012835	0.027778	0.002740	0.013043	0.222222	0.000000	0.014184	0.021186	0.4	5181.98	34	chr7	142750675	.	A	G	5181.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.31;DP=1220;ExcessHet=10.3881;FS=2.471;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.2;MQRankSum=-8.832;QD=4.55;ReadPosRankSum=-2.684;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,25:119:99:0|1:142750672_T_A:726,0,3872:142750672	2	0	8	0
chr7	142750680	142750680	C	T	exonic	PRSS1	.	stopgain	PRSS1:NM_002769:exon2:c.C166T:p.Q56X	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1242	280	0	0	280	0.101302	.	.	.	933720	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0318	0.0685	0.0106	0.0041	0.0339	0.0291	0.0474	0.0480	0.0003074	8	26028	rs147366981	0.0267	0.1326	0.0229	0.0307	0.0653	0.0265	0.0263	0.0624	0.0612	0.0570	0.0653	0.0663	0.0176	0.1422	0.0264	0.0220	0.0394	0.0170	0.2451	0.3472	0.2492	0.2408	0.3469	0.2422	0.2410	0.3402	0.3375	0.3469	0.2122	0.2373	0.2308	0.0477	0.2609	0.1513	0.2221	0.2305	0.0781	.	.	.	.	.	.	.	.	.	.	.	.	0.016899	0.27861	N	0.410325	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.711	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416393	0.90831	D	0.360343	0.90716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	4.129577	0.61790	24.4	0.99516745074967428	0.68979	0.11811	0.16877	N	AEFDBI	0.295314	0.40546	N	0.145216833814894	0.48585	3.069039	-0.169272407184608	0.32673	1.861256	0.255023528038656	0.18723	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	2.59	0.30091	0.110000	0.15273	.	.	-2.564000	0.00244	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.8252:0.1747:0.0	12.188	0.53561	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	4442.98	34	chr7	142750680	.	C	T	4442.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.531;DP=1173;ExcessHet=10.3881;FS=2.575;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.26;MQRankSum=-9.819;QD=4.09;ReadPosRankSum=-2.975;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,22:115:99:0|1:142750672_T_A:644,0,3832:142750672	2	0	8	0
chr7	142750715	142750715	G	A	splicing	PRSS1	NM_002769:exon2:c.200+1G>A	.	.	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1452	70	0	0	70	0.0235373	1.0000	0.848	.	389795	Hereditary_pancreatitis|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0168	0.0324	0.0042	0.0020	0.0238	0.0143	0.0236	0.0308	4.53e-05	7	154602	rs143909348	0.0011	0.0454	0.0008	0.0014	0.0019	0.0010	0.0010	0.0015	0.0014	0.0019	0.0005	0.0008	0.0006	0.0019	0.0014	0.0011	0.0015	2.527e-05	0.0248	0.1744	0.0235	0.0261	0.0474	0.0239	0.0236	0.0450	0.0440	0.0474	0.0224	0.0233	0.0141	0.0027	0.0353	0.0055	0.0170	0.0232	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203112	0.74183	D	0.05398	0.73846	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.670096	0.92930	33	0.99152217748706628	0.53848	0.96810	0.71061	D	AEFDBI	.	.	.	0.873327191576921	0.90394	10.38377	0.628514251622925	0.77020	6.599509	0.999995312873056	0.74766	0.087844	0.02253	0	0.085267	0.02369	0	0.106748	0.03127	0	0.075334	0.01956	0	0.824128	0.49265	3.49	3.49	0.39065	9.545000	0.97193	.	.	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	14.397	0.66584	776	0.48302	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	405.14	34	chr7	142750715	.	G	A	405.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.35;DP=582;ExcessHet=0.2348;FS=2.83;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.48;MQRankSum=-9.082;QD=2.55;ReadPosRankSum=-3.322;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,12:75:99:.:.:315,0,1744:.	8	0	2	0
chr7	142751871	142751871	G	A	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon3:c.G298A:p.D100N	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1214	308	0	0	308	0.112573	.	.	.	1856639	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0428779939056	.	.	9.889e-05	9.625e-05	0	0.0001	0	0.0001	0	0	3.84e-05	1	26028	rs199507985	0.0051	0.1108	0.0042	0.0059	0.0058	0.0049	0.0049	0.0049	0.0048	0.0056	0.0014	0.0020	0.0003	0.0259	0.0058	0.0050	0.0037	0.0004	0.0108	0.0956	0.0113	0.0103	0.0183	0.0103	0.0101	0.0169	0.0163	0.0183	0.0092	0.0097	0.0055	0.0016	0.0118	0.0052	0.0086	0.0199	0.0039	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.033468	0.24894	N	0.524529	1	0.08975	N	-0.69	0.01958	N	-3.0	0.92158	D	1.9	0.00629	N	0.239	0.29429	-0.6747	0.61616	T	0.367	0.72727	T	10	0.023464203	0.00615	T	0.042878	0.60692	D	0.229	0.52916	0.66	0.79791	0.581723300495	0.57844	0.32847795118294976	0.32760	0.158480649337	0.17896	0.271346330643	0.06317	T	0.315631	0.68723	T	-0.016682	0.49325	T	-0.261739	0.48651	T	0.0383265241498447	0.03389	T	.	.	.	0.11146873	0.26341	0.07788485	0.17394	0.11146873	0.26341	0.07788485	0.17393	-3.152	0.11903	T	.	.	0.130	0.27968	B	.;.;.;.	.;.;.;.	0.306948	0.06821	3.348	0.23833427681071562	0.01026	0.02802	0.07524	N	AEFDBI	0.128302	0.24603	N	-1.45322892256066	0.02191	0.09649168	-1.40637236865901	0.03188	0.14819	0.00205546323774988	0.09120	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	0.447	0.15819	1.399000	0.34175	.	.	-0.330000	0.05784	0.098000	0.22752	0.000000	0.08366	0.001000	0.02609	0.787:0.0:0.213:0.0	7.122	0.24626	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.030303	0.002717	0.005848	0.050000	0.025862	0.003049	0.003788	0.125	1231.72	33	chr7	142751871	.	G	A	1231.72	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.48;DP=1630;ExcessHet=0.2348;FS=5.584;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.125;MQ=58.56;MQRankSum=-13.82;QD=2.3;ReadPosRankSum=-1.326;SOR=1.176	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,35:280:99:0|1:142751865_C_A:732,0,10162:142751865	6	0	2	2
chr7	142752476	142752476	G	C	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.G500C:p.S167T	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	495	1027	0	0	1027	0.509172	.	.	.	1044764	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0561978714716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232891794	0.2545	0.3268	0.2490	0.2598	0.3691	0.2536	0.2533	0.3636	0.3614	0.2301	0.3691	0.3339	0.1146	0.3574	0.2639	0.2514	0.2503	0.2264	0.4061	0.4174	0.4095	0.4025	0.4695	0.4032	0.4020	0.4636	0.4612	0.4695	0.3848	0.4099	0.4028	0.1747	0.4131	0.3359	0.3953	0.3970	0.2476	0.157	0.23997	T	0.098	0.39040	T	0.0	0.07471	B	0.01	0.14941	B	0.083030	0.20775	N	0.574518	1	0.08975	N	1.445	0.36358	L	-3.32	0.93882	D	-2.14	0.48523	N	0.225	0.25622	-0.1577	0.78727	T	0.698	0.89598	D	10	0.23140222	0.40113	T	0.056198	0.66515	D	0.289	0.60808	0.642	0.77903	0.527610103971	0.52408	0.7123115361635766	0.71173	0.155586269279	0.17559	0.440457701683	0.30639	T	0.578285	0.86150	D	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.0861879674086316	0.10760	T	.	.	.	0.1717769	0.37831	0.16736849	0.38616	0.1717769	0.37831	0.16736849	0.38615	-3.967	0.23308	T	.	.	0.124	0.29172	B	.;.;.;.	.;.;.;.	-0.119171	0.03530	0.672	0.49745973133581234	0.04263	0.00742	0.03097	N	AEFBI	0.279347	0.39342	N	-1.33556641628984	0.03277	0.1461073	-1.43646429030785	0.02895	0.1340265	4.17954976400154E-4	0.06899	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-1.85	0.07363	0.606000	0.23891	.	.	-1.515000	0.01011	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6816:0.3184:0.0	15.926	0.79405	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	17543.0	33	chr7	142752476	.	G	C	17543.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.613;DP=2065;ExcessHet=10.3881;FS=1.925;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.33;MQRankSum=-9.62;QD=9.02;ReadPosRankSum=0.138;SOR=0.562	GT:AD:DP:GQ:PL	0/1:157,74:231:99:2501,0,4278	2	0	8	0
chr7	142752950	142752950	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon5:c.A674G:p.K225R	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1276	246	0	0	246	0.0879199	.	.	.	489825	not_provided|Hereditary_pancreatitis|not_specified	MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.241	0.0563907113932	.	0.000199681	4.12e-05	9.638e-05	0	0.0002	0	0	0	0.0001	0.0026126	68	26028	rs541223359	0.0001	0.0444	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	8.039e-05	0.0001	0.0001	0.0003	0.0002	0.0001	0.0002	0.0003	0.0625	0.2471	0.0635	0.0614	0.1148	0.0610	0.0604	0.1107	0.1090	0.1148	0.0323	0.0683	0.0422	0.0110	0.0760	0.0427	0.0445	0.0571	0.0198	0.48	0.09572	T	0.352	0.17372	T	0.0	0.02946	B	0.002	0.06944	B	0.436750	0.12679	N	0.782790	0.999998	0.08975	N	0.355	0.11969	N	-2.38	0.88298	D	-1.0	0.26422	N	0.087	0.07125	-0.7748	0.56592	T	0.356	0.71850	T	10	0.07178062	0.10627	T	0.056391	0.66588	D	0.241	0.54641	.	.	0.459642846412	0.45589	0.5199644332738709	0.51919	0.132481952341	0.14936	0.202874571085	0.00545	T	0.394159	0.75337	T	-0.0844771	0.38985	T	-0.359122	0.38153	T	0.00933494863009668	0.00119	T	.	.	.	0.111516565	0.26353	0.10829246	0.26085	0.111516565	0.26353	0.10829246	0.26084	-3.264	0.13277	T	.	.	0.104	0.18746	B	.;.;.	.;.;.	-1.224358	0.00507	0.011	0.38899255705893293	0.02652	0.04907	0.10657	N	AEFBI	0.190157	0.31739	N	-1.77807229907533	0.00601	0.02589842	-1.78133773023897	0.00821	0.03665607	0.00183854746915247	0.08930	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.18	-4.1	0.03674	0.006000	0.13051	.	.	-2.707000	0.00208	0.000000	0.06391	0.000000	0.08366	0.369000	0.26088	0.6101:0.0:0.2543:0.1356	4.484	0.11193	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1072.04	33	chr7	142752950	.	A	G	1072.04	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.65;DP=1881;ExcessHet=1.5895;FS=2.199;InbreedingCoeff=-0.2611;MLEAC=4;MLEAF=0.2;MQ=58.98;MQRankSum=-12.46;QD=1.2;ReadPosRankSum=-4.179;SOR=1.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,27:208:99:0|1:142752947_A_G:589,0,7518:142752947	6	0	4	0
chr7	151877140	151877140	G	A	ncRNA_exonic	PRKAG2-AS1	.	.	.	.	841	673	7	1	0	9	0.00664207	.	.	.	310235	not_provided|Wolff-Parkinson-White_pattern|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200,Orphanet:907|MedGen:CN239247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00559105	.	.	.	.	.	.	.	.	0.0024967	386	154602	rs73160072	0.0087	0.0047	0.0099	0.0078	0.0113	0.0074	0.0070	0.0093	0.0086	0	0.0067	0.0070	0	0.0038	0	0.0113	0.0099	0.0067	0.0123	0.0123	0.0130	0.0115	0.0203	0.0118	0.0117	0.0194	0.0190	0.0035	0.0044	0.0087	0.0101	0	0.0107	0.0170	0.0203	0.0142	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	657.43	39	chr7	151877140	.	G	A	657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=408;ExcessHet=0;FS=3.43;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=0.837;SOR=1.209	GT:AD:DP:GQ:PL	0/1:47,27:74:99:669,0,1109	9	0	1	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	2	62	35	14	113	176	0.336898	.	.	.	490785	not_specified|Occult_macular_dystrophy|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	87613.7	417	chr8	10610127	.	T	TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	87613.7	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.026;DP=3602;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=8;MLEAF=0.4;MQ=59.68;MQRankSum=-0.183;QD=29.11;ReadPosRankSum=-3.299;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,68:107:99:.:.:13108,5078,4498:.	4	2	4	0
chr8	10610127	10610127	T	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A3971G:p.E1324G	Occult macular dystrophy, Autosomal dominant	2	62	35	14	113	176	0.336898	.	.	.	312269	Retinitis_pigmentosa_88|Occult_macular_dystrophy|not_specified|not_provided	MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs4240659	0.1222	0.1328	0.1202	0.1242	0.3291	0.1216	0.1214	0.3238	0.3216	0.1195	0.1370	0.1586	0.3291	0.0992	0.1560	0.1126	0.1374	0.1283	0.1626	0.1710	0.1669	0.1580	0.3056	0.1607	0.1599	0.2926	0.2873	0.1751	0.1340	0.1808	0.1843	0.3056	0.0901	0.2045	0.1541	0.1677	0.1281	0.127	0.27080	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0.55	0.14455	N	2.94	0.09728	T	-1.26	0.31778	N	0.059	0.03069	-0.9596	0.39255	T	0.013	0.05081	T	8	0.0013740659	0.00015	T	.	.	.	0.034	0.08419	.	.	0.0551355673512	0.04727	0.09043956122950329	0.08976	.	.	0.193922996521	0.00302	T	0.036747	0.24220	T	-0.429672	0.01489	T	-0.85497	0.00899	T	0.0430045104408474	0.04238	T	0.292471	0.05369	T	0.03615358	0.04393	0.05939324	0.11139	0.03615358	0.04393	0.05939324	0.11139	-7.353	0.56572	T	.	.	0.069	0.03093	B	.	.	-0.075415	0.03791	0.799	0.55067947662932093	0.05266	0.02637	0.07234	N	AEFDBI	0.022755	0.01177	N	-1.76511400421318	0.00636	0.02744097	-1.81737224775769	0.00705	0.03140268	1.68491044415924E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.91	-1.85	0.07363	-0.294000	0.08346	-1.859000	0.04598	-2.048000	0.00420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1404:0.0:0.8596	7.767	0.28151	794	0.45591	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.274421	0.257576	0.265668	0.260234	0.300000	0.301724	0.323171	0.242424	0.25	87613.7	417	chr8	10610127	.	T	C	87613.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.026;DP=3602;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=5;MLEAF=0.25;MQ=59.68;MQRankSum=-0.183;QD=29.11;ReadPosRankSum=-3.299;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,39:107:99:.:.:13108,5941,6035:.	6	1	3	0
chr8	18071333	18071333	T	C	exonic	ASAH1	.	synonymous SNV	ASAH1:NM_004315:exon3:c.A231G:p.R77R,ASAH1:NM_177924:exon3:c.A183G:p.R61R,ASAH1:NM_001127505:exon4:c.A252G:p.R84R	Farber lipogranulomatosis, Autosomal recessive;Spinal muscular atrophy with progressive myoclonic epilepsy, Autosomal recessive	1	1517	3	1	0	5	0.00164528	.	.	YES	313538	not_provided|Farber_lipogranulomatosis	MedGen:C3661900|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000,Orphanet:333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0004	0	0	0.0001	0	0	0	0.0027	0.0002781	43	154602	rs559209309	0.0001	0.0001	8.355e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0	0	2.524e-05	0	0.0005	9.047e-07	0.0003	0.0019	7.223e-05	7.217e-05	3.854e-05	0.0001	0.0021	3.968e-05	3.125e-05	0.0011	0.0009	0	0	0	0	0.0002	0	0	0	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	196.43	44	chr8	18071333	.	T	C	196.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.673;DP=347;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.46;ReadPosRankSum=-0.168;SOR=0.527	GT:AD:DP:GQ:PL	0/1:24,12:36:99:208,0,582	9	0	1	0
chr8	99642196	99642196	C	T	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon34:c.C5681T:p.T1894M,VPS13B:NM_152564:exon34:c.C5606T:p.T1869M	Cohen syndrome, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	194079	Cohen_syndrome|not_specified|VPS13B-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.0180721367835	0.0012	0.000199681	0.0010	0.0003	0.0003	0.0001	0.0014	0.0012	0.0022	0.0014	0.0009832	152	154602	rs117148013	0.0010	0.0010	0.0010	0.0010	0.0018	0.0010	0.0009	0.0016	0.0015	0.0001	0.0002	0	0	0.0015	0.0007	0.0011	0.0006	0.0018	0.0008	0.0008	0.0008	0.0008	0.0017	0.0007	0.0006	0.0008	0.0008	0.0003	0.0011	0.0010	0	0	0.0011	0	0.0010	0.0009	0.0017	0.301	0.15201	T	0.092	0.40110	T	0.013	0.16609	B	0.006	0.12133	B	0.174660	0.17273	N	0.595004	1	0.08975	N	0.145	0.08828	N	-0.37	0.68892	T	-1.02	0.26843	N	0.184	0.19995	-1.0162	0.24948	T	0.098	0.36677	T	10	0.00742206	0.00169	T	0.018072	0.40007	T	0.041	0.10877	.	.	0.38225645794	0.37833	0.30762182965654516	0.30675	0.127663395425	0.14390	0.183794051409	0.00134	T	0.085251	0.37460	T	-0.550955	0.00288	T	-0.5832	0.14261	T	0.0013656374117942	0.00014	T	0.765223	0.39806	T	0.023908423	0.01173	0.040248606	0.04306	0.023908423	0.01172	0.040248606	0.04306	-4.625	0.32990	T	0.18284733410187126	0.23643	0.071	0.04119	B	.;.	.;.	1.196709	0.15883	12.17	0.88287361633611161	0.17859	0.03864	0.09226	N	AEFBI	0.039525	0.05754	N	-1.02705123661066	0.08045	0.3758626	-0.989543189689987	0.10019	0.5020192	0.0775704411734447	0.15762	0.608746	0.35421	0	0.653731	0.59785	0	0.731467	0.93227	0	0.615788	0.45269	1	.	.	5.6	-1.2	0.09062	0.356000	0.19918	0.882000	0.22403	0.599000	0.40250	0.000000	0.06391	0.372000	0.24573	0.633000	0.32236	0.1194:0.5928:0.0:0.2878	7.332	0.25764	417	0.81662	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1835.43	33	chr8	99642196	.	C	T	1835.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.864;DP=454;ExcessHet=0;FS=2.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.704;SOR=0.812	GT:AD:DP:GQ:PL	0/1:68,76:144:99:1847,0,1670	9	0	1	0
chr8	99699894	99699894	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon36:c.A6491G:p.N2164S,VPS13B:NM_152564:exon36:c.A6416G:p.N2139S	Cohen syndrome, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	194146	Cohen_syndrome|not_specified|VPS13B-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:CN169374|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.061	0.011994965682	0.0012	0.000399361	0.0010	0.0003	0.0003	0	0.0014	0.0012	0.0023	0.0014	0.0009896	153	154602	rs142248228	0.0009	0.0009	0.0009	0.0010	0.0018	0.0009	0.0009	0.0015	0.0014	0.0001	0.0002	0	0	0.0015	0.0007	0.0010	0.0005	0.0018	0.0007	0.0007	0.0007	0.0007	0.0017	0.0006	0.0006	0.0008	0.0007	0.0003	0.0011	0.0003	0	0	0.0011	0	0.0010	0.0009	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.993812	0.07920	N	1.002150	1	0.08975	N	-0.97	0.01230	N	-0.23	0.66652	T	-0.17	0.09627	N	0.073	0.04668	-0.9503	0.40920	T	0.093	0.35363	T	10	0.007905126	0.00179	T	0.011995	0.30154	T	0.061	0.17616	.	.	0.27855597813	0.27464	0.07494676186931658	0.07430	0.0961029939832	0.10848	0.254970133305	0.04310	T	0.044105	0.26711	T	-0.61914	0.00111	T	-0.686755	0.06578	T	0.0115930854782147	0.00176	T	0.637336	0.25103	T	0.032485086	0.03282	0.036429185	0.03089	0.032485086	0.03281	0.036429185	0.03089	-2.323	0.04711	T	0.07698980584876687	0.03566	0.055	0.00405	B	.;.	.;.	-2.439188	0.00037	0.001	0.6577628836012267	0.07868	0.01077	0.03980	N	AEFDBI	0.022743	0.01175	N	-1.61872735229058	0.01174	0.05102497	-1.61225262709172	0.01583	0.07175834	0.999999705142644	0.74766	0.693126	0.56070	0	0.633656	0.55848	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.85	-7.68	0.01129	-2.023000	0.01525	-7.939000	0.01058	-0.554000	0.04884	0.000000	0.06391	0.000000	0.08366	0.946000	0.48989	0.6375:0.0911:0.2714:0.0	11.433	0.49293	434	0.80536	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	608.43	41	chr8	99699894	.	A	G	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.274;DP=394;ExcessHet=0;FS=0.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=-0.839;SOR=0.901	GT:AD:DP:GQ:PL	0/1:48,31:79:99:620,0,1128	9	0	1	0
chr8	132480670	132480670	-	C	UTR5	KCNQ3	NM_004519:c.-139_-138insG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	75	142	3	2	4	11	0.024055	.	.	.	313038	Benign_neonatal_seizures|not_provided|Benign_Neonatal_Epilepsy	MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900|MedGen:C0270851	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs879019805	0.0992	0.0754	0.0988	0.0996	0.1176	0.0985	0.0982	0.1020	0.0992	0.0987	0.0472	0.0809	0.0113	0.0962	0.1176	0.1002	0.0951	0.1026	0.0916	0.0897	0.0944	0.0887	0.1035	0.0902	0.0896	0.1013	0.1004	0.0952	0.0571	0.0558	0.0762	0.0041	0.0991	0.1106	0.1035	0.0927	0.0911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1193.31	12	chr8	132480670	.	A	AC	1193.31	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.548;DP=121;ExcessHet=0.5456;FS=3.209;InbreedingCoeff=0.0838;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=22.1;ReadPosRankSum=0.515;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,9:16:99:.:.:208,0,147:.	7	0	2	1
chr9	2622146	2622146	-	CGG	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	272060	not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|Congenital_cerebellar_hypoplasia|not_provided	MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1638	.	0.3376	0.1818	0.25	0.0139	0.125	0.3308	0.2105	0.3583	0.0206983	3200	154602	rs555425887	0.2927	0.2905	0.2899	0.2955	0.3418	0.2919	0.2915	0.3381	0.3365	0.0877	0.2478	0.3286	0.0443	0.3460	0.2522	0.3019	0.2795	0.3418	0.2545	0.2556	0.2528	0.2563	0.3664	0.2523	0.2515	0.3521	0.3463	0.0964	0.5619	0.2423	0.3682	0.0533	0.3910	0.2345	0.3296	0.2564	0.3664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	11824.1	40	chr9	2622146	.	A	ACGG	11824.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.01;DP=505;ExcessHet=0.0072;FS=1.649;InbreedingCoeff=0.5833;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=33.31;ReadPosRankSum=0.956;SOR=0.585	GT:AD:DP:GQ:PL	1/1:0,54:54:99:2422,162,0	5	1	4	0
chr9	13223710	13223710	C	T	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon5:c.G394A:p.G132S,MPDZ:NM_001261407:exon5:c.G394A:p.G132S,MPDZ:NM_001330637:exon5:c.G394A:p.G132S,MPDZ:NM_001375413:exon5:c.G394A:p.G132S,MPDZ:NM_001375416:exon5:c.G394A:p.G132S,MPDZ:NM_001375417:exon5:c.G394A:p.G132S,MPDZ:NM_001375419:exon5:c.G394A:p.G132S,MPDZ:NM_001375420:exon5:c.G394A:p.G132S,MPDZ:NM_001375422:exon5:c.G394A:p.G132S,MPDZ:NM_001375424:exon5:c.G394A:p.G132S,MPDZ:NM_001375425:exon5:c.G394A:p.G132S,MPDZ:NM_001375426:exon5:c.G394A:p.G132S,MPDZ:NM_001375427:exon5:c.G394A:p.G132S,MPDZ:NM_001378778:exon5:c.G394A:p.G132S,MPDZ:NM_003829:exon5:c.G394A:p.G132S,MPDZ:NM_001375418:exon6:c.G394A:p.G132S,MPDZ:NM_001375421:exon6:c.G394A:p.G132S,MPDZ:NM_001375423:exon6:c.G394A:p.G132S	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	424	1093	5	0	0	5	0.00228206	0.9998	0.906	YES	980246	MPDZ-related_disorder|Hydrocephalus,_nonsyndromic,_autosomal_recessive_2|not_provided|Inborn_genetic_diseases	.|MONDO:MONDO:0014085,MedGen:C3554691,OMIM:615219,Orphanet:2185|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.412	.	.	0.000399361	0.0007	0.0002	0.0007	0	0	0.0003	0	0.0025	0.0003493	54	154602	rs201101621	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0016	0.0015	6.096e-05	0.0002	7.852e-05	2.57e-05	0	0.0019	0.0001	0.0002	0.0018	0.0001	0.0001	0.0001	0.0001	0.0017	8.18e-05	6.734e-05	0.0008	0.0006	2.411e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0017	0.034	0.58626	D	0.008	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000362	0.45194	D	0.000000	1	0.81001	D	2.135	0.59519	M	1.15	0.38236	T	-5.11	0.83092	D	0.785	0.84713	-0.9386	0.42837	T	0.182	0.52980	T	10	0.040896535	0.02698	T	0.070502	0.71020	D	0.412	0.72328	.	.	0.340032825777	0.33618	0.6551711625284203	0.65453	.	.	0.631065607071	0.57296	T	0.16244	0.50710	T	-0.122761	0.32673	T	0.0436216	0.73165	D	0.182919590480039	0.19418	T	0.955204	0.82942	D	0.43535444	0.63102	0.5114426	0.71768	0.43535444	0.63103	0.5114426	0.71768	-7.587	0.58220	D	.	.	0.248	0.50745	B	.;.;.;.;.;.	.;.;.;.;.;.	4.996362	0.82867	27.9	0.99849449483354025	0.92925	0.99079	0.90917	D	AEFBI	0.942156	0.94637	D	0.759990831907788	0.83552	8.047855	0.80504911703853	0.90143	10.27472	0.999999999994685	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.08	6.08	0.98982	7.568000	0.81546	7.615000	0.62066	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.663	0.99665	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004541	0.000000	0.004076	0.005917	0.000000	0.000000	0.000000	0.015152	0.05	419.43	34	chr9	13223710	.	C	T	419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.934;DP=358;ExcessHet=0;FS=5.041;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.061;SOR=0.214	GT:AD:DP:GQ:PL	0/1:19,18:37:99:431,0,544	9	0	1	0
chr9	72740177	72740177	C	T	exonic	TMC1	.	nonsynonymous SNV	TMC1:NM_138691:exon9:c.C421T:p.R141W	Deafness, autosomal dominant 36, Autosomal dominant;Deafness, autosomal recessive 7, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	57037	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_7|Autosomal_dominant_nonsyndromic_hearing_loss_36	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636|MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0068	0.00219649	0.0070	0.0015	0.0054	0.0002	0.0026	0.0101	0.0011	0.0045	0.0074126	1146	154602	rs11143384	0.0099	0.0099	0.0100	0.0097	0.0114	0.0097	0.0097	0.0112	0.0111	0.0013	0.0045	0.0157	0.0003	0.0028	0.0023	0.0114	0.0083	0.0053	0.0068	0.0068	0.0073	0.0062	0.0108	0.0064	0.0063	0.0102	0.0099	0.0019	0	0.0065	0.0167	0.0002	0.0020	0.0068	0.0108	0.0052	0.0048	0.01	0.56456	D	0.001	0.83351	D	0.99	0.63424	D	0.724	0.55036	P	0.005478	0.32770	N	0.248868	0.999984	0.18198	N	2.24	0.63355	M	0.74	0.50459	T	-3.55	0.68764	D	0.407	0.44761	-0.9593	0.39311	T	0.131	0.44248	T	10	0.006860882	0.00156	T	.	.	.	0.145	0.38592	.	.	0.639161686029	0.63619	0.5310747661685233	0.53031	0.556333922428	0.52297	0.298189610243	0.10132	T	0.469083	0.80275	T	-0.433511	0.01412	T	-0.383161	0.35353	T	0.0216567839023721	0.00870	T	0.979802	0.93166	D	0.12821145	0.29981	0.13691153	0.32739	0.1358002	0.31504	0.12134909	0.29278	-12.268	0.86131	D	.	.	0.329	0.56946	B	.;.;.;.	.;.;.;.	3.842335	0.55612	23.6	0.99822741560024031	0.90502	0.07013	0.13040	N	AEFI	0.159644	0.28547	N	-0.018318779508646	0.41026	2.446732	-0.128832874360762	0.34234	1.966893	0.614364550442611	0.21831	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.62	3.71	0.41733	0.615000	0.24023	1.885000	0.29478	0.599000	0.40250	0.005000	0.17040	0.291000	0.24165	0.995000	0.73285	0.3523:0.6477:0.0:0.0	11.001	0.46822	577	0.69927	.;.;.;.	GDA	Adipose_Subcutaneous	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	731.43	33	chr9	72740177	.	C	T	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=0.886;SOR=0.723	GT:AD:DP:GQ:PL	0/1:55,31:86:99:743,0,1284	9	0	1	0
chr9	132897614	132897614	A	-	intronic	TSC1	.	.	.	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	58145	Tuberous_sclerosis_syndrome|not_provided|Tuberous_sclerosis_1|Hereditary_cancer-predisposing_syndrome|not_specified|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.342652	0.2827	0.3340	0.2770	0.2973	0.3197	0.2811	0.2717	0.2332	0.0002689	7	26028	rs118203716	0.1067	0.1211	0.1068	0.1066	0.1678	0.1063	0.1061	0.1637	0.1620	0.1678	0.1293	0.1160	0.0999	0.1215	0.1610	0.1053	0.1095	0.0811	0.0585	0.0528	0.0588	0.0581	0.0633	0.0572	0.0567	0.0615	0.0608	0.0601	0.0667	0.0514	0.0821	0.0102	0.0409	0.0750	0.0633	0.0607	0.0347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3251.92	79	chr9	132897613	.	GA	G	3251.92	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.248;DP=851;ExcessHet=4.5998;FS=1.322;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=0.224;SOR=0.566	GT:AD:DP:GQ:PL	1/0:3,14:37:43:436,91,141	5	0	5	0
chr9	133433442	133433442	G	A	exonic	ADAMTS13	.	nonsynonymous SNV	ADAMTS13:NM_139025:exon10:c.G1157A:p.R386H,ADAMTS13:NM_139026:exon10:c.G1064A:p.R355H,ADAMTS13:NM_139027:exon10:c.G1157A:p.R386H	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	901342	Upshaw-Schulman_syndrome|not_provided	MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.057	0.035154615848	0.0004	.	0.0003	0	0.0003	0	0	0.0004	0.0022	0.0006	0.0002975	46	154602	rs151048660	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	8.961e-05	0.0002	0.0010	0	1.893e-05	0.0023	0.0002	0.0003	0.0008	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	4.818e-05	0	0.0003	0.0009	0	0	0.0034	0.0002	0.0009	0.0004	0.282	0.16466	T	0.456	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.46	0.12951	N	0.16	0.60610	T	0.29	0.08340	N	0.194	0.27077	-1.0308	0.20195	T	0.086	0.33326	T	9	0.057601452	0.06642	T	0.035155	0.56159	D	0.057	0.16321	.	.	0.661710244528	0.65887	0.27980405084893883	0.27893	0.412108884712	0.41960	0.254506707191	0.04257	T	0.041662	0.25932	T	-0.455824	0.01043	T	-0.524944	0.19796	T	0.0125158557050813	0.00207	T	0.743426	0.36288	T	0.05646367	0.11112	0.101116404	0.24197	0.05646367	0.11112	0.101116404	0.24196	-0.842	0.01343	T	.	.	0.06	0.01328	B	.;.;.;.	.;.;.;.	1.038204	0.14185	10.76	0.80278701395729191	0.13128	0.18174	0.20150	N	AEFDGBHCI	0.076710	0.15437	N	-0.888318476583675	0.11120	0.5349228	-0.748491101627715	0.15760	0.8304221	0.992046526955937	0.32699	0.77792	0.99625	0	0.61073	0.52368	0	0.854111	0.99894	0	0.567892	0.33627	0	.	.	4.88	1.11	0.19640	1.061000	0.30152	0.359000	0.17556	-0.641000	0.04447	0.973000	0.34540	0.001000	0.17328	0.116000	0.19000	0.6747:0.0:0.3253:0.0	7.999	0.29449	838	0.37812	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.006793	0.008772	0.000000	0.008621	0.000000	0.003788	0.05	987.43	35	chr9	133433442	.	G	A	987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.501;DP=429;ExcessHet=0;FS=2.672;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=1.63;SOR=0.472	GT:AD:DP:GQ:PL	0/1:56,43:99:99:999,0,1413	9	0	1	0
chr9	133568405	133568405	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon14:c.C2007T:p.A669A,ADAMTSL2:NM_014694:exon14:c.C2007T:p.A669A	Geleophysic dysplasia 1, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	901419	not_provided|Geleophysic_dysplasia_1	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003234	50	154602	rs372073271	0.0036	0.0036	0.0036	0.0036	0.0110	0.0035	0.0035	0.0088	0.0080	0.0007	0.0028	0.0068	2.538e-05	0.0017	0.0110	0.0040	0.0031	0.0016	0.0029	0.0030	0.0028	0.0031	0.0044	0.0027	0.0026	0.0036	0.0035	0.0012	0	0.0044	0.0063	0.0002	0.0018	0.0136	0.0040	0.0024	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1	3649.14	34	chr9	133568405	.	C	T	3649.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.27;DP=659;ExcessHet=0.2348;FS=0.783;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.943;SOR=0.682	GT:AD:DP:GQ:PL	0/1:86,79:165:99:1840,0,1987	8	0	2	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.65	14598.0	100	chr9	133569476	.	A	G	14598.0	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.393;DP=849;ExcessHet=1.4371;FS=0.554;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=1.14;SOR=0.615	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2787,276,0	1	4	5	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	1522.01	7	chr10	8074278	.	G	GA	1522.01	.	AC=16;AF=0.8;AN=20;BaseQRankSum=0.484;DP=84;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.3208;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=24.95;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PL	0/1:1,5:6:10:123,0,10	1	7	2	0
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	277	416	362	467	0	1296	0.609023	.	.	.	135501	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.65	5543.95	37	chr10	23193706	.	T	C	5543.95	.	AC=13;AF=0.65;AN=20;BaseQRankSum=1.47;DP=301;ExcessHet=1.4371;FS=2.628;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=21.24;ReadPosRankSum=0.397;SOR=0.526	GT:AD:DP:GQ:PL	0/1:21,11:32:99:249,0,558	1	4	5	0
chr10	27044192	27044192	-	A	splicing	ANKRD26	NM_001256053:exon19:c.1983-2->T;NM_014915:exon19:c.1986-2->T	.	.	Thrombocytopenia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	315228	not_provided|not_specified|Thrombocytopenia_2|Thrombocytopenia	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0678	0.0848	0.2262	0.0234	0.0210	0.0526	0.0576	0.0382	0.0001921	5	26028	rs749880815	0.0439	0.0614	0.0450	0.0428	0.1713	0.0435	0.0434	0.1674	0.1658	0.0710	0.1713	0.0366	0.0230	0.0187	0.0455	0.0409	0.0451	0.0350	0.0470	0.0468	0.0487	0.0451	0.1283	0.0461	0.0457	0.1235	0.1215	0.0672	0	0.1283	0.0228	0.0123	0.0105	0.0524	0.0277	0.0538	0.0190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1596.55	34	chr10	27044192	.	T	TA	1596.55	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.978;DP=330;ExcessHet=0.2065;FS=1.14;InbreedingCoeff=0.1951;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.215;SOR=0.805	GT:AD:DP:GQ:PL	0/1:12,11:23:99:221,0,249	8	0	2	0
chr10	52771482	52771482	G	A	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.C154T:p.R52C,MBL2:NM_001378373:exon2:c.C154T:p.R52C,MBL2:NM_001378374:exon2:c.C154T:p.R52C	.	425	935	151	11	0	173	0.0846794	.	.	YES	29391	not_provided|Cystic_fibrosis|Mannose-binding_lectin_deficiency	MedGen:C3661900|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.527	.	0.0498	0.0271565	0.0569	0.0110	0.0264	0.0002	0.0584	0.0761	0.0551	0.0594	0.0560536	8666	154602	rs5030737	0.0659	0.0659	0.0653	0.0665	0.0735	0.0656	0.0654	0.0712	0.0711	0.0099	0.0272	0.1038	0.0002	0.0576	0.0735	0.0717	0.0612	0.0602	0.0494	0.0494	0.0501	0.0486	0.0722	0.0484	0.0481	0.0705	0.0699	0.0118	0.1567	0.0387	0.0991	0.0004	0.0609	0.0272	0.0722	0.0498	0.0567	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.977	0.73820	D	0.032677	0.24997	N	0.247365	0.993411	0.41932	A	3.445	0.92174	M	-3.2	0.93231	D	-4.94	0.81835	D	0.091	0.06990	0.062	0.83463	D	0.432	0.77374	T	9	0.0030004382	0.00049	T	.	.	.	0.527	0.80007	.	.	.	.	0.42006838530462065	0.41922	0.502214769166	0.48587	0.327009618282	0.14483	T	0.618358	0.88002	D	-0.221839	0.17743	T	-0.0280537	0.68498	D	0.0674288808456765	0.08286	T	0.974003	0.90706	D	0.5926832	0.72296	0.43889147	0.67259	0.5926832	0.72297	0.45634174	0.68400	-9.391	0.70179	D	0.7007590763589189	0.77970	0.236	0.46915	B	.	.	4.056622	0.60165	24.2	0.99917815049540892	0.98518	0.09150	0.14963	N	AEFBCI	0.132216	0.25144	N	0.380477454125213	0.60365	4.224615	0.19217995272698	0.49416	3.145189	0.999376067672215	0.39355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.07	0.34476	0.972000	0.29007	2.800000	0.34847	0.676000	0.76740	0.002000	0.15269	0.165000	0.23294	0.959000	0.51448	0.0:0.0:0.7818:0.2182	9.112	0.35898	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053462	0.005208	0.053134	0.047059	0.055556	0.068966	0.087500	0.062016	0.1	3024.14	38	chr10	52771482	.	G	A	3024.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.56;DP=586;ExcessHet=0.2348;FS=2.01;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.083;SOR=0.562	GT:AD:DP:GQ:PL	0/1:70,68:138:99:1574,0,1491	8	0	2	0
chr10	71725421	71725421	G	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon29:c.G3480T:p.M1160I,CDH23:NM_022124:exon29:c.G3480T:p.M1160I	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1497	24	0	1	25	0.00795229	.	.	YES	55084	not_specified|not_provided|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	.	8e-05	0.00219649	0.0022	0.0001	0.0003	0.0002	0	0.0002	0.0011	0.0148	0.0018176	281	154602	rs111033519	0.0010	0.0010	0.0006	0.0015	0.0142	0.0010	0.0010	0.0136	0.0133	2.987e-05	2.236e-05	0.0003	2.519e-05	0	0.0029	0.0002	0.0011	0.0142	0.0005	0.0005	0.0003	0.0008	0.0133	0.0004	0.0004	0.0107	0.0097	2.406e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0	0.0133	.	.	.	0.514	0.26306	T	0.004	0.12183	B	0.013	0.16460	B	0.001150	0.40056	N	0.208576	1	0.81001	D	-0.67	0.02046	N	.	.	.	.	.	.	0.509	0.54059	-1.0268	0.21494	T	0.112	0.40052	T	9	0.007078856	0.00161	T	.	.	.	0.054	0.15330	0.475	0.55182	0.779814296898	0.77778	0.2157758739904076	0.21493	.	.	0.341554939747	0.16671	T	0.002114	0.37696	T	-0.38314	0.02976	T	-0.310807	0.43571	T	0.0534730017488531	0.06100	T	0.888711	0.61924	D	0.5319244	0.68940	0.5611373	0.74607	0.53026617	0.68846	0.5982625	0.76669	-1.621	0.02031	T	.	.	0.282	0.51489	B	.;.;.;.	.;.;.;.	3.312176	0.45517	22.1	0.9708094472198836	0.32281	0.92845	0.56686	D	AEFDBI	0.550311	0.56283	D	-0.240729420628005	0.31474	1.765275	-0.0102873979785231	0.39250	2.324314	0.999999440875665	0.74766	0.403107	0.06075	0	0.491513	0.07743	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.16	5.16	0.70563	2.078000	0.41191	9.940000	0.82649	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.639	0.91347	826	0.39940	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.002924	0.050000	0.008621	0.003049	0.011364	0.05	1650.43	36	chr10	71725421	.	G	T	1650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.407;DP=475;ExcessHet=0;FS=2.079;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.983;SOR=0.688	GT:AD:DP:GQ:PL	0/1:74,71:145:99:1662,0,1833	9	0	1	0
chr10	86699293	86699293	G	A	exonic	LDB3	.	synonymous SNV	LDB3:NM_001080115:exon8:c.G912A:p.T304T,LDB3:NM_001080116:exon8:c.G771A:p.T257T,LDB3:NM_001368063:exon8:c.G912A:p.T304T,LDB3:NM_001171611:exon9:c.G1116A:p.T372T,LDB3:NM_001368067:exon9:c.G771A:p.T257T,LDB3:NM_001368068:exon9:c.G771A:p.T257T	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	3	1512	6	1	0	8	0.00263852	.	.	.	53053	Cardiovascular_phenotype|Myofibrillar_myopathy_4|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	8.2e-05	0.000798722	0.0010	0.0002	0.0007	0	0	0.0008	0.0011	0.0032	0.0008279	128	154602	rs144445130	0.0007	0.0007	0.0005	0.0008	0.0034	0.0006	0.0006	0.0031	0.0029	2.988e-05	0.0011	0.0030	0	7.512e-05	0.0017	0.0004	0.0008	0.0034	0.0005	0.0005	0.0004	0.0006	0.0040	0.0004	0.0004	0.0026	0.0022	4.856e-05	0.0011	0.0008	0.0017	0	0	0	0.0005	0.0005	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.05	413.43	33	chr10	86699293	.	G	A	413.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.799;SOR=0.638	GT:AD:DP:GQ:PL	0/1:33,18:51:99:425,0,752	9	0	1	0
chr10	99724042	99724042	G	A	exonic	COX15	.	nonsynonymous SNV	COX15:NM_001320974:exon5:c.C664T:p.R222C,COX15:NM_001320975:exon5:c.C664T:p.R222C,COX15:NM_001320976:exon5:c.C127T:p.R43C,COX15:NM_001372024:exon5:c.C664T:p.R222C,COX15:NM_001372025:exon5:c.C664T:p.R222C,COX15:NM_001372026:exon5:c.C664T:p.R222C,COX15:NM_001372027:exon5:c.C664T:p.R222C,COX15:NM_001372028:exon5:c.C664T:p.R222C,COX15:NM_004376:exon5:c.C664T:p.R222C,COX15:NM_078470:exon5:c.C664T:p.R222C	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, Autosomal recessive;Leigh syndrome due to cytochrome c oxidase deficiency, Autosomal recessive, Mitochondrial	.	.	.	.	.	.	.	.	.	YES	737684	Leigh_syndrome|not_provided|COX15-related_disorder	MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.886	0.376663030316	0.0002	0.00139776	0.0005	0	8.637e-05	0.0054	0.0002	0.0001	0	0.0001	0.0004786	74	154602	rs2231682	0.0006	0.0006	0.0006	0.0006	0.0151	0.0005	0.0005	0.0141	0.0137	2.987e-05	4.472e-05	0.0005	0.0151	0	0	0.0001	0.0005	5.797e-05	0.0003	0.0004	0.0003	0.0004	0.0075	0.0003	0.0002	0.0057	0.0050	4.816e-05	0	0	0	0.0075	0	0	0.0002	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.052347	1	0.81001	D	3.92	0.96251	H	-1.86	0.84341	D	-7.68	0.95574	D	0.854	0.85027	1.012	0.97396	D	0.855	0.95152	D	10	0.03636244	0.01930	T	0.376663	0.92874	D	0.886	0.96688	.	.	0.954063321398	0.95357	0.895539446260645	0.89524	0.634923566102	0.57331	0.874183833599	0.93161	D	0.982401	0.99868	D	0.115891	0.65957	D	0.395474	0.91964	D	0.298563845630358	0.24944	T	0.998312	0.99192	D	0.95614475	0.96889	0.86625063	0.92607	0.95614475	0.96889	0.86625063	0.92608	-8.521	0.74187	D	0.9007248061856435	0.95228	0.606	0.77260	P	.;.	.;.	6.115536	0.94596	34	0.99918568919253758	0.98586	0.97913	0.78077	D	AEFBI	0.779351	0.71157	D	0.889748262111409	0.91249	10.78858	0.765627657658323	0.87320	9.181473	0.999685951961489	0.41756	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	5.894000	0.69546	11.901000	0.99356	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	17.812	0.88531	698	0.58074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1023.43	35	chr10	99724042	.	G	A	1023.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.268;DP=419;ExcessHet=0;FS=0.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.125;SOR=0.81	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1035,0,1170	9	0	1	0
chr10	100989084	100989084	C	A	exonic	TWNK	.	nonsynonymous SNV	TWNK:NM_001163812:exon1:c.C874A:p.P292T,TWNK:NM_021830:exon1:c.C874A:p.P292T	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Autosomal recessive;Perrault syndrome 5, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	481146	not_provided|Infantile_onset_spinocerebellar_ataxia|Perrault_syndrome_5	MedGen:C3661900|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245,Orphanet:1186|MONDO:MONDO:0014504,MedGen:C4015307,OMIM:616138,Orphanet:2855	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.729	0.153055471878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.526e-06	7.524e-06	1.089e-05	4.126e-06	9.894e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.894e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.27080	T	0.206	0.27056	T	0.959	0.90584	D	0.625	0.92359	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.685	0.78553	M	-2.97	0.92007	D	-2.52	0.58896	D	0.73	0.73105	0.704	0.93224	D	0.856	0.95193	D	10	0.8389269	0.83046	D	0.153055	0.83438	D	0.729	0.90501	0.51	0.60693	0.831548490484	0.82994	0.7709927646158667	0.77048	1.47156410767	0.86541	.	.	.	0.339439	0.70858	T	0.301959	0.83126	D	0.195967	0.82908	D	0.955702722072601	0.64574	D	0.922208	0.72323	D	0.2970909	0.52642	0.25431392	0.51094	0.26239753	0.49301	0.22142878	0.46951	-7.049	0.55875	T	0.644717438624265	0.71596	0.191	0.40968	B	.;.	.;.	3.363054	0.46435	22.3	0.98785495211574903	0.46206	0.98865	0.87884	D	AEFGBCI	0.875129	0.79838	D	0.579339852274448	0.71886	5.719605	0.555650212520025	0.71790	5.709039	1.0	0.98316	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.79	5.79	0.91751	7.558000	0.81210	7.641000	0.63200	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0:1.0:0.0:0.0	18.622	0.91282	552	0.72024	Archaeal primase DnaG/twinkle, TOPRIM domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2585.43	33	chr10	100989084	.	C	A	2585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.38;DP=549;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.52;SOR=0.53	GT:AD:DP:GQ:PL	0/1:117,106:223:99:2597,0,2968	9	0	1	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	6817.14	39	chr10	123053169	.	AT	A	6817.14	.	AC=18;AF=0.9;AN=20;BaseQRankSum=0.912;DP=401;ExcessHet=0.2348;FS=3.841;InbreedingCoeff=-0.1112;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=1.51;SOR=1.151	GT:AD:DP:GQ:PL	0/1:11,8:19:99:166,0,238	0	8	2	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.8	32857.4	148	chr11	2159830	.	T	G	32857.4	.	AC=16;AF=0.8;AN=20;BaseQRankSum=1.5;DP=1555;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=21.6;ReadPosRankSum=0.615;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,82:163:99:.:.:1927,0,1810:.	0	6	4	0
chr11	6616509	6616509	T	-	intronic	TPP1	.	.	.	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321432	Neuronal_Ceroid-Lipofuscinosis,_Recessive|Neuronal_ceroid_lipofuscinosis_2|not_specified|not_provided	MedGen:CN239323|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1142	0.0799	0.0493	0.0916	0.0410	0.1069	0.1220	0.1456	0.0005379	14	26028	rs35039601	0.3989	0.3867	0.4023	0.3954	0.4118	0.3980	0.3976	0.4108	0.4104	0.3181	0.3268	0.3599	0.3573	0.3454	0.3614	0.4118	0.3926	0.3499	0.5430	0.5451	0.5416	0.5444	0.6143	0.5396	0.5382	0.5937	0.5854	0.4376	0.6847	0.5590	0.5754	0.5442	0.5465	0.5397	0.5915	0.5301	0.6143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4254.15	29	chr11	6616508	.	AT	A	4254.15	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.037;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-0.896;SOR=0.787	GT:AD:DP:GQ:PL	0/1:2,13:24:99:417,143,116	2	0	8	0
chr11	17276578	17276578	C	G	upstream	NUCB2	dist=136	.	.	.	1177	165	27	153	0	333	0.502262	.	.	.	132617	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.665136	.	.	.	.	.	.	.	.	0.611226	15909	26028	rs214088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6236	0.6237	0.6233	0.6239	0.8166	0.6202	0.6189	0.7960	0.7876	0.6476	0.6747	0.6715	0.6983	0.8166	0.5278	0.6156	0.5913	0.6627	0.6438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	347.9	2	chr11	17276578	.	C	G	347.9	.	AC=6;AF=0.5;AN=12;DP=16;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;QD=32.66;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:17276557_A_C:90,6,0:17276557	3	3	0	4
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	9	194	657	662	0	1981	0.836218	.	.	.	319487	Diabetes_mellitus,_transient_neonatal,_3|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.65	14318.0	59	chr11	17386857	.	C	T	14318.0	.	AC=13;AF=0.65;AN=20;BaseQRankSum=0.772;DP=691;ExcessHet=1.4371;FS=4.229;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=23.09;ReadPosRankSum=-0.153;SOR=1.068	GT:AD:DP:GQ:PL	0/1:38,33:71:99:775,0,884	1	4	5	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	445	728	343	0	1414	0.613715	.	.	.	167548	not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	10422.0	57	chr11	17395957	.	A	G	10422.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=1.18;DP=508;ExcessHet=0.3701;FS=2.526;InbreedingCoeff=0.1667;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.23;ReadPosRankSum=0.033;SOR=1	GT:AD:DP:GQ:PL	0/1:17,32:49:99:930,0,406	2	4	4	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	314	660	541	0	1742	0.735021	.	.	.	167542	not_specified|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4435.94	36	chr11	17408375	.	T	C	4435.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.1;DP=433;ExcessHet=0.3701;FS=2.105;InbreedingCoeff=0.1667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-1.434;SOR=0.853	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1248,126,0	4	2	4	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	703	213	106	500	0	1106	0.721932	.	.	.	1166871	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	1386.14	9	chr11	17414293	.	A	G	1386.14	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.383;DP=74;ExcessHet=0;FS=0;InbreedingCoeff=0.7347;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=30.8;ReadPosRankSum=1.38;SOR=2.494	GT:AD:DP:GQ:PL	1/1:0,3:3:9:107,9,0	3	6	1	0
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	87	248	463	724	0	1911	0.793934	.	.	.	1166872	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	4993.96	24	chr11	17414389	.	G	A	4993.96	.	AC=11;AF=0.55;AN=20;BaseQRankSum=1.21;DP=259;ExcessHet=0.0657;FS=0;InbreedingCoeff=0.3939;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=28.7;ReadPosRankSum=-0.578;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,21:21:63:839,63,0	3	4	3	0
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	19	213	530	760	0	2050	0.827948	.	.	.	1166873	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	7646.96	40	chr11	17414419	.	G	A	7646.96	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.596;DP=400;ExcessHet=0.0657;FS=3.149;InbreedingCoeff=0.3939;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.28;ReadPosRankSum=-0.888;SOR=0.998	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1294,105,0	3	4	3	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	93	473	950	0	2373	0.927315	.	.	.	1166874	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	14104.9	33	chr11	17415389	.	A	G	14104.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.635;DP=637;ExcessHet=0;FS=0;InbreedingCoeff=0.7802;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=27.02;ReadPosRankSum=0.399;SOR=0.611	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2011,213,0	3	6	1	0
chr11	17463424	17463424	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	597	684	234	0	1152	0.491049	.	.	.	167555	Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Type_2_diabetes_mellitus|not_provided|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	11781.2	186	chr11	17463424	.	G	A	11781.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.03;DP=1112;ExcessHet=2.8389;FS=1.796;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.185;SOR=0.828	GT:AD:DP:GQ:PL	0/1:86,100:186:99:2497,0,2001	5	0	5	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P,ABCC8:NM_001287174:exon2:c.T207C:p.P69P,ABCC8:NM_001351295:exon2:c.T207C:p.P69P,ABCC8:NM_001351296:exon2:c.T207C:p.P69P,ABCC8:NM_001351297:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	1	302	754	465	0	1684	0.736014	.	.	YES	167535	not_provided|Hyperinsulinemia|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|not_specified|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Permanent_neonatal_diabetes_mellitus	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN169374|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.599698	0.671717	0.631793	0.649123	0.550000	0.534483	0.521341	0.564394	0.55	33224.0	208	chr11	17474969	.	A	G	33224.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-2.05;DP=2297;ExcessHet=5.1594;FS=0;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.455;SOR=0.703	GT:AD:DP:GQ:PL	0/1:134,131:265:99:2976,0,3284	1	2	7	0
chr11	68406721	68406721	G	A	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_001291902:exon9:c.G256A:p.V86M,LRP5:NM_002335:exon9:c.G1999A:p.V667M	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1301	205	16	0	237	0.0834801	.	.	.	21315	not_specified|Increased_bone_mineral_density|Exudative_vitreoretinopathy_1|Autosomal_dominant_osteopetrosis_1|Exudative_vitreoretinopathy_4|Osteoporosis_with_pseudoglioma|Polycystic_liver_disease_4_with_or_without_kidney_cysts|Worth_disease|Osteoporosis|Bone_mineral_density_quantitative_trait_locus_1|not_provided|Osteogenesis_imperfecta|Retinal_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0002796,Human_Phenotype_Ontology:HP:0004350,Human_Phenotype_Ontology:HP:0005711,Human_Phenotype_Ontology:HP:0005741,Human_Phenotype_Ontology:HP:0010738,Human_Phenotype_Ontology:HP:0011001,MONDO:MONDO:0002933,MeSH:D010026,MedGen:C0029464|MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050|MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634,Orphanet:2783|MONDO:MONDO:0011151,MedGen:C1866176,OMIM:601813,Orphanet:891|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770,Orphanet:2788|MONDO:MONDO:0044327,MedGen:C4693479,OMIM:617875|MONDO:MONDO:0007764,MedGen:C0432273,OMIM:144750,Orphanet:2790|Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710|MedGen:C1866079,OMIM:601884|MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.552	.	0.0413	0.0183706	0.0377	0.0088	0.0287	0.0001	0.0122	0.0537	0.0442	0.0270	0.0382013	5906	154602	rs4988321	0.0464	0.0465	0.0468	0.0461	0.0954	0.0461	0.0460	0.0888	0.0862	0.0089	0.0348	0.0924	0.0001	0.0130	0.0954	0.0515	0.0457	0.0269	0.0347	0.0347	0.0357	0.0337	0.0517	0.0339	0.0336	0.0502	0.0497	0.0097	0.0395	0.0426	0.0876	0.0004	0.0099	0.1164	0.0517	0.0534	0.0257	0.039	0.42487	D	0.093	0.39799	T	0.993	0.65571	D	0.744	0.55835	P	0.000545	0.43413	U	0.000000	1	0.81001	D	2.42	0.70002	M	-2.96	0.91956	D	-1.32	0.32991	N	0.165	0.17416	0.006	0.82387	D	0.375	0.73302	T	9	0.0044097304	0.00090	T	.	.	.	0.552	0.81485	.	.	.	.	0.7134114975413333	0.71284	0.434265697111	0.43557	0.780145823956	0.78950	T	0.413379	0.76726	T	-0.0600691	0.42896	T	0.179668	0.81976	D	0.0486499542425239	0.05261	T	0.909009	0.67793	D	0.13268982	0.30889	0.16171636	0.37601	0.13268982	0.30888	0.16171636	0.37600	-8.036	0.61316	D	0.2459009221151293	0.33305	0.138	0.30076	B	.	.	4.677049	0.74812	26.2	0.99871326386967618	0.94902	0.98334	0.81734	D	AEFDGBI	0.907886	0.86248	D	0.681822207697314	0.78441	6.87238	0.631390098776899	0.77233	6.639753	0.999999999998874	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.570548	0.19454	0	0.735409	0.98432	0	.	.	4.11	4.11	0.47350	7.867000	0.85489	11.685000	0.94275	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.950	0.86112	658	0.62094	.	.	.	.	.	rs4988321	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.075101	0.045455	0.076087	0.119883	0.150000	0.103448	0.091463	0.034091	0.05	1680.43	37	chr11	68406721	.	G	A	1680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.96;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.63;SOR=0.684	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1692,0,1477	9	0	1	0
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	0	682	633	207	0	1047	0.43426	.	.	YES	18817	Oculocutaneous_albinism|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B|not_specified|Albinism_or_congenital_nystagmus	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	0.2748	0.123403	0.2518	0.0620	0.1918	0.0008	0.1818	0.3663	0.2907	0.1085	0.261019	40354	154602	rs1042602	0.3220	0.3220	0.3252	0.3188	0.3670	0.3213	0.3209	0.3661	0.3657	0.0507	0.2157	0.4485	0.0009	0.1815	0.3226	0.3670	0.3000	0.1142	0.2419	0.2419	0.2523	0.2311	0.3651	0.2398	0.2390	0.3613	0.3597	0.0668	0.3425	0.2714	0.4547	0.0023	0.1828	0.4048	0.3651	0.3011	0.0986	0.031	0.45039	D	0.003	0.76473	D	0.997	0.70673	D	0.974	0.73157	D	0.000008	0.62929	D	0.065875	0.999508	0.21084	P	1.845	0.48678	L	-5.1	0.98700	D	-2.79	0.59059	D	0.382	0.42345	-1.7843	0.00000	T	0.000	0.00039	T	8	0.0053822994	0.00118	T	.	.	.	0.355	0.67600	.	.	.	.	0.6892773878264551	0.68867	0.0688238525608	0.07705	0.439628481865	0.30526	T	0.88496	0.97618	D	-0.260349	0.12860	T	-0.00292912	0.70146	D	0.0152115171034676	0.00334	T	0.744526	0.36463	T	0.16305736	0.36423	0.21538205	0.46125	0.19196893	0.40846	0.22641657	0.47618	-9.607	0.71523	D	0.3624652220777897	0.45877	0.135	0.29228	B	.	.	4.082595	0.60747	24.3	0.99333304920791965	0.59856	0.86225	0.45465	D	AEFBI	0.785702	0.71601	D	0.494697286576891	0.66780	4.99452	0.417875167062087	0.62678	4.48737	0.993650488775012	0.33302	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.505000	0.60141	5.876000	0.50589	0.599000	0.40250	0.420000	0.26330	1.000000	0.68203	0.864000	0.41028	0.1393:0.8607:0.0:0.0	15.385	0.74410	864	0.32732	Tyrosinase copper-binding domain	CBX3P7|CTSC	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs1042602	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.325780	0.454545	0.342391	0.146199	0.200000	0.310345	0.426829	0.234848	0.3	21450.0	286	chr11	89178528	.	C	A	21450.0	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.916;DP=1517;ExcessHet=0.6204;FS=0.536;InbreedingCoeff=0.0476;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=1.22;SOR=0.771	GT:AD:DP:GQ:PL	0/1:124,119:243:99:2915,0,3159	5	1	4	0
chr11	108251973	108251973	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon11:c.T1744C:p.F582L,ATM:NM_001351834:exon12:c.T1744C:p.F582L	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1484	37	0	0	37	0.0123128	.	.	YES	132799	Familial_cancer_of_breast|not_provided|Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia_syndrome|not_specified|Malignant_tumor_of_breast|Breast_and/or_ovarian_cancer	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN221562	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.272	0.00632949868566	0.0006	0.00259585	0.0010	0.0003	0.0014	0	0	0.0010	0.0033	0.0018	0.0010673	165	154602	rs2235006	0.0008	0.0008	0.0007	0.0009	0.0229	0.0008	0.0008	0.0197	0.0185	0.0008	0.0016	0.0007	0	0	0.0229	0.0006	0.0017	0.0019	0.0008	0.0008	0.0007	0.0009	0.0018	0.0007	0.0006	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0	0.0102	0.0010	0.0038	0.0014	1.0	0.00964	T	0.221	0.25827	T	0.0	0.02946	B	0.001	0.04355	B	0.013257	0.28902	N	0.409630	0.999837	0.20152	N	0.69	0.16971	N	0.55	0.54728	T	-0.37	0.16393	N	0.079	0.21580	-1.0270	0.21429	T	0.068	0.27777	T	10	0.0050537884	0.00109	T	0.006329	0.16639	T	0.272	0.58758	0.737	0.86978	0.819883778855	0.81818	0.15030838992287476	0.14952	0.144979564381	0.16386	0.368464320898	0.20611	T	0.073865	0.34800	T	-0.352246	0.04587	T	-0.291983	0.45566	T	0.000667495086760846	0.00006	T	0.610839	0.23175	T	0.08629755	0.20053	0.10082258	0.24117	0.07361293	0.16461	0.0899903	0.21076	-2.303	0.04571	T	0.21292882189483592	0.28582	0.451	0.62236	A	.;.;.	.;.;.	0.752413	0.11221	7.853	0.55554340149940129	0.05366	0.26494	0.23009	N	AEFBI	0.038653	0.05500	N	-0.730072476973633	0.15181	0.7627831	-0.627980968104417	0.18775	1.004481	0.717382268493451	0.22891	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.03	1.13	0.19758	0.131000	0.15696	-0.914000	0.06944	-0.123000	0.13640	0.351000	0.25767	0.000000	0.08366	0.858000	0.40661	0.0:0.2561:0.0:0.7439	9.764	0.39715	126	0.94940	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.016616	0.000000	0.014946	0.052632	0.000000	0.017241	0.000000	0.011364	0.1	2068.14	111	chr11	108251973	.	T	C	2068.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.756;DP=479;ExcessHet=0.2348;FS=1.759;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.309;SOR=0.552	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1075,0,878	8	0	2	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	0	177	7	42	0	91	0.204494	.	.	.	778118	Peroxisome_biogenesis_disorder_2B|Rhizomelic_chondrodysplasia_punctata_type_5|not_specified|Peroxisome_biogenesis_disorder_2A_(Zellweger)|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	4980.87	23	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	4980.87	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.354;DP=562;ExcessHet=0;FS=1.059;InbreedingCoeff=0.7802;MLEAC=13;MLEAF=0.65;MQ=59.55;MQRankSum=-2.282;QD=32.67;ReadPosRankSum=-1.401;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,15:15:58:677,58,0	3	6	1	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	15	41	80	27	63	197	0.62037	.	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5417.14	65	chr12	21174718	.	T	TA	5417.14	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.14;DP=575;ExcessHet=1.0516;FS=1.524;InbreedingCoeff=0.0588;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.046;SOR=0.605	GT:AD:DP:GQ:PL	0/1:18,13:35:99:246,0,372	3	1	6	0
chr12	21205854	21205854	T	C	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	33	1487	2	0	0	2	0.000672043	.	.	.	316593	Rotor_syndrome	MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000199681	0.0012	0.0003	0.0006	0	0	0.0020	0	0.0004	0.0015006	232	154602	rs71581991	0.0028	0.0028	0.0029	0.0026	0.0035	0.0027	0.0027	0.0034	0.0034	0.0005	0.0003	0	0	0.0002	0.0004	0.0035	0.0016	0.0003	0.0014	0.0014	0.0017	0.0011	0.0026	0.0013	0.0012	0.0023	0.0021	0.0005	0	0.0011	0	0.0002	0	0	0.0026	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	658.43	34	chr12	21205854	.	T	C	658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=362;ExcessHet=0;FS=4.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.155;SOR=1.5	GT:AD:DP:GQ:PL	0/1:23,25:48:99:670,0,504	9	0	1	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2892.97	14	chr12	47845054	.	C	A	2892.97	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.247;DP=167;ExcessHet=2.8549;FS=0.74;InbreedingCoeff=-0.2499;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=19.95;ReadPosRankSum=-0.556;SOR=0.831	GT:AD:DP:GQ:PL	0/1:9,13:22:99:389,0,312	1	3	6	0
chr12	47879112	47879112	A	G	exonic	VDR	.	startloss	VDR:NM_001374662:exon2:c.T2C:p.M1?,VDR:NM_000376:exon3:c.T2C:p.M1?,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001374661:exon3:c.T2C:p.M1?,VDR:NM_001017535:exon4:c.T2C:p.M1?	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	6	103	520	893	0	2306	0.917994	.	.	YES	331088	Periodontitis|not_provided|not_specified|Vitamin_D-dependent_rickets_type_II_with_alopecia	Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.6732	0.671526	0.6376	0.7880	0.5203	0.5448	0.6403	0.6138	0.6512	0.7671	0.62549	96702	154602	rs2228570	0.6253	0.6253	0.6210	0.6296	0.7904	0.6242	0.6238	0.7824	0.7791	0.7904	0.5345	0.5612	0.5913	0.6341	0.7321	0.6142	0.6362	0.7660	0.6621	0.6625	0.6611	0.6633	0.7801	0.6587	0.6573	0.7730	0.7701	0.7801	0.7368	0.5776	0.5716	0.5697	0.6440	0.6939	0.6163	0.6895	0.7391	0.0	0.91255	D	0.013	0.63109	D	0.289	0.32288	B	0.275	0.40079	B	0.000031	0.55875	D	0.149012	0.989818	0.81001	P	.	.	.	-3.24	0.93882	D	0.36	0.09460	N	0.34	0.38129	-0.9252	0.44829	T	0.000	0.00011	T	8	8.306137e-06	0.00003	T	.	.	.	0.503	0.78538	.	.	.	.	0.3450707945471	0.34421	0.570787460381	0.53228	0.625708281994	0.56536	T	0.324761	0.69555	T	-0.283926	0.10255	T	-0.036796	0.67917	D	0.0963817504551405	0.11954	T	0.9	0.65058	D	0.68792903	0.77399	0.63474244	0.78679	0.6637955	0.76103	0.5718023	0.75203	-7.866	0.60153	D	.	.	0.232	0.46516	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.762546	0.36239	20.2	0.99030006853180141	0.50786	0.91887	0.54478	D	AEFDBI	0.433632	0.49501	N	0.245728946061445	0.53428	3.511683	0.278389843584115	0.54280	3.593452	0.999289017433705	0.39007	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.89	0.32713	4.354000	0.59193	6.099000	0.53531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.8342:0.0:0.1658:0.0	9.950	0.40804	884	0.28482	.;.;.;.;.;.;.	RP1-228P16.1	Spleen	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.734642	0.696970	0.716033	0.745614	0.450000	0.810345	0.768293	0.768939	0.8	15331.4	80	chr12	47879112	.	A	G	15331.4	.	AC=16;AF=0.8;AN=20;BaseQRankSum=0.034;DP=717;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=22.45;ReadPosRankSum=-0.417;SOR=0.747	GT:AD:DP:GQ:PL	0/1:35,36:71:99:824,0,824	0	6	4	0
chr12	56451131	56451131	-	A	UTR3	MIP	NM_012064:c.*148_*149insT	.	.	Cataract 15, multiple types	.	.	.	.	.	.	.	.	.	.	332232	Cataract|not_provided	Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs35639464	0.1281	0.0997	0.1277	0.1284	0.2196	0.1272	0.1268	0.2124	0.2095	0.2196	0.2072	0.1630	0.1588	0.1105	0.1742	0.1133	0.1391	0.1411	0.1168	0.1159	0.1142	0.1195	0.2012	0.1152	0.1145	0.1972	0.1956	0.2012	0.0858	0.1653	0.1144	0.1021	0.0751	0.1475	0.0653	0.1259	0.1147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	221.36	7	chr12	56451131	.	G	GA	221.36	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0;DP=51;ExcessHet=0.0514;FS=0;InbreedingCoeff=0.1593;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.328;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:52:72,0,52	7	0	2	1
chr12	79796908	79796908	T	C	exonic	PPP1R12A	.	nonsynonymous SNV	PPP1R12A:NM_001244992:exon16:c.A2167G:p.T723A,PPP1R12A:NM_001143886:exon17:c.A2074G:p.T692A,PPP1R12A:NM_002480:exon17:c.A2335G:p.T779A,PPP1R12A:NM_001143885:exon18:c.A2335G:p.T779A,PPP1R12A:NM_001244990:exon18:c.A2335G:p.T779A	.	432	1078	11	1	0	13	0.00599355	.	.	.	1617562	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.00487012770318	.	0.00159744	0.0015	0	0.0003	0	0	0.0003	0.0022	0.0094	0.0012419	192	154602	rs201175104	0.0006	0.0006	0.0004	0.0008	0.0083	0.0006	0.0006	0.0078	0.0076	0	0.0004	3.831e-05	2.525e-05	0	0.0033	0.0001	0.0008	0.0083	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0	0	0.0001	0	0	0	0.0034	0.0001	0	0.0060	0.117	0.31682	T	0.304	0.23570	T	0.0	0.16609	B	0.0	0.16012	B	0.012556	0.29135	N	0.403521	0.880034	0.44417	D	1.18	0.29980	L	1.21	0.37746	T	-1.66	0.42575	N	0.106	0.13198	-1.0695	0.09523	T	0.049	0.21026	T	10	0.0052392483	0.00114	T	0.00487	0.12224	T	0.018	0.03083	.	.	0.334371577756	0.33041	0.14743659216693095	0.14665	0.128782013625	0.14521	0.346563100815	0.17415	T	0.236569	0.60407	T	-0.518218	0.00451	T	-0.512174	0.21092	T	0.0133029066152891	0.00238	T	0.734227	0.35417	T	0.04064586	0.05840	0.04548814	0.06130	0.04064586	0.05840	0.04548814	0.06129	-4.452	0.31227	T	.	.	0.064	0.02639	B	.;.;.;.;.	.;.;.;.;.	2.155080	0.27454	17.47	0.98668010789882676	0.44428	0.72737	0.35593	D	AEFBI	0.097586	0.19680	N	-0.361977633314355	0.26835	1.467603	-0.184481747318355	0.32106	1.823349	0.0292048284316731	0.13874	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	3.34	0.37357	0.543000	0.22945	1.497000	0.26929	0.665000	0.62972	0.888000	0.31154	1.000000	0.68203	0.998000	0.85391	0.122:0.1361:0.0:0.7419	6.524	0.21486	796	0.45353	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.1	1698.14	35	chr12	79796908	.	T	C	1698.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.27;DP=446;ExcessHet=0.2348;FS=0.62;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.53;SOR=0.752	GT:AD:DP:GQ:PL	0/1:37,42:79:99:881,0,942	8	0	2	0
chr12	114684072	114684073	GA	-	UTR5	TBX3	NM_016569:c.-872_-873delTC;NM_005996:c.-872_-873delTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	1041	126	30	80	245	435	0.429864	.	.	.	329646	not_provided|Ulnar-mammary_syndrome	MedGen:C3661900|MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs879092016	0.0202	0.0059	0.0200	0.0203	0.0452	0.0193	0.0190	0.0405	0.0391	0.0380	0.0074	0.0348	0.0438	0.0172	0.0291	0.0123	0.0181	0.0452	0.0091	0.0092	0.0085	0.0097	0.0536	0.0087	0.0085	0.0481	0.0459	0.0115	0.0221	0.0040	0.0293	0.0215	0.0003	0.0282	0.0047	0.0122	0.0536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	297.24	2	chr12	114684071	.	GGA	G	297.24	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=29.72;ReadPosRankSum=0.967;SOR=0.525	GT:AD:DP:GQ:PL	0/1:1,2:3:11:61,0,11	4	0	1	5
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.55	13177.0	100	chr12	120978819	.	C	G	13177.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=1.19;DP=976;ExcessHet=5.1594;FS=1.096;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.057;SOR=0.636	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1541,0,1511	1	2	7	0
chr13	113118845	113118845	G	A	exonic	F7	.	nonsynonymous SNV	F7:NM_001267554:exon6:c.G986A:p.R329Q,F7:NM_019616:exon8:c.G1172A:p.R391Q,F7:NM_000131:exon9:c.G1238A:p.R413Q	Factor VII deficiency, Autosomal recessive	0	910	520	92	0	704	0.278922	.	.	YES	27119	not_provided|not_specified|Factor_VII_deficiency|Myocardial_infarction,_decreased_susceptibility_to|Factor_X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|.|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	.	0.11	0.138379	0.1341	0.1259	0.1018	0.0533	0.0751	0.1210	0.1437	0.2757	0.125995	19479	154602	rs6046	0.1165	0.1164	0.1107	0.1223	0.2761	0.1160	0.1158	0.2732	0.2720	0.1225	0.1074	0.1911	0.0599	0.0736	0.2135	0.1056	0.1239	0.2761	0.1163	0.1164	0.1162	0.1165	0.2740	0.1149	0.1143	0.2618	0.2568	0.1210	0.1725	0.1158	0.2056	0.0477	0.0697	0.1803	0.1088	0.1317	0.2740	0.228	0.26519	T	0.165	0.30926	T	0.254	0.32525	B	0.005	0.13708	B	0.521729	0.11734	N	0.744753	1	0.08975	P	0.615	0.15706	N	-1.51	0.81399	D	-1.16	0.29727	N	0.085	0.06190	-1.1082	0.03229	T	0.005	0.01688	T	9	0.003981173	0.00077	T	.	.	.	0.188	0.46444	.	.	.	.	0.4174972918572176	0.41665	0.218615771125	0.24401	0.259455680847	0.04827	T	0.414242	0.76786	T	-0.531236	0.00378	T	-0.39204	0.34312	T	0.0032045131440866	0.00034	T	0.60024	0.22396	T	0.28302434	0.51337	0.20696844	0.44935	0.22008178	0.44555	0.15338038	0.36043	-4.203	0.26795	T	0.14956450594880755	0.17500	0.070	0.05060	B	.;.;.	.;.;.	0.864100	0.12365	8.904	0.9372641218980059	0.23653	0.01261	0.04425	N	AEFDBI	0.454247	0.50704	N	-1.30176004106169	0.03655	0.1636765	-1.42064976557785	0.03046	0.1413473	0.992292572482251	0.32788	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.11	-4.6	0.03148	-0.090000	0.11129	-0.358000	0.09695	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.5017:0.0:0.3766:0.1217	5.957	0.18512	988	0.01987	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	F7|F7|F10|F10|F10|F7|F7|F7|F7|F7|F7|F7|F10|F7|F10|F7|F7|F10|F7|F10|F7|F7|F10|F7|F7|F10|F10|F7|F10|F7|F7|F10|F7|F7|F7|F7|F7|F7|F10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid	MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L	Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs6046	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.189325	0.080808	0.174387	0.211765	0.100000	0.215517	0.189024	0.238636	0.25	17974.1	36	chr13	113118845	.	G	A	17974.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3;DP=1244;ExcessHet=0.2065;FS=3.464;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=-0.01;SOR=0.981	GT:AD:DP:GQ:PL	1/1:0,272:272:99:8195,815,0	6	1	3	0
chr14	23419114	23419114	-	G	intronic	MYH7	.	.	.	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant	26	775	566	155	0	876	0.361088	.	.	.	45302	not_provided|Primary_familial_hypertrophic_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.337061	.	.	.	.	.	.	.	.	0.0472115	7299	154602	rs34598192	0.3369	0.3402	0.3403	0.3337	0.6339	0.3361	0.3357	0.6261	0.6230	0.6339	0.1960	0.3975	0.0549	0.2711	0.3041	0.3586	0.3420	0.2235	0.4076	0.4081	0.4199	0.3948	0.6311	0.4049	0.4038	0.6247	0.6221	0.6311	0.4068	0.2827	0.3834	0.0797	0.2623	0.3103	0.3624	0.4006	0.2148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6694.11	78	chr14	23419114	.	T	TG	6694.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.044;DP=598;ExcessHet=2.8389;FS=1.144;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.09;SOR=0.814	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1472,0,1527	5	0	5	0
chr14	64220540	64220540	A	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon4:c.A488T:p.Q163L,SYNE2:NM_182913:exon6:c.A866T:p.Q289L,SYNE2:NM_015180:exon110:c.A19895T:p.Q6632L,SYNE2:NM_182914:exon111:c.A19964T:p.Q6655L	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	.	265907	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|SYNE2-related_disorder|not_specified|not_provided	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0522778576277	0.0020	0.00139776	0.0022	0.0006	0.0030	0	0.0005	0.0030	0.0022	0.0013	0.0022315	345	154602	rs149978500	0.0031	0.0031	0.0030	0.0031	0.0140	0.0030	0.0030	0.0116	0.0107	0.0005	0.0026	0.0056	0	0.0004	0.0140	0.0034	0.0035	0.0010	0.0019	0.0019	0.0021	0.0017	0.0030	0.0017	0.0017	0.0027	0.0025	0.0005	0	0.0022	0.0061	0	0.0003	0.0102	0.0030	0.0014	0.0008	0.043	0.42199	D	0.043	0.50226	D	0.313	0.32852	B	0.216	0.40739	B	0.819387	0.09190	N	0.902853	0.999983	0.54805	D	2.5	0.72771	M	0.55	0.54728	T	-5.81	0.90023	D	0.378	0.47765	-0.8931	0.48659	T	0.176	0.51990	T	10	0.00549531	0.00121	T	0.052278	0.65005	D	0.075	0.21907	.	.	0.522717468363	0.51916	0.45877102385961166	0.45795	0.137024195531	0.15452	0.300396084785	0.10460	T	0.089375	0.64994	T	-0.422152	0.01658	T	-0.380325	0.35684	T	0.0586289400915562	0.06951	T	0.768523	0.40460	T	0.19553134	0.41346	0.23880059	0.49212	0.19553134	0.41345	0.23880059	0.49211	-6.461	0.50548	T	.	.	0.117	0.32054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.856687	0.12288	8.831	0.6130389617898947	0.06675	0.26272	0.22945	N	AEFDGBHCI	0.118171	0.23119	N	-0.571187478070026	0.19825	1.040569	-0.609017110530634	0.19261	1.032633	0.999996949742486	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	2.37	0.28337	0.720000	0.25566	1.050000	0.23629	0.756000	0.94297	0.059000	0.21734	0.019000	0.20708	0.023000	0.12082	0.6331:0.0:0.1289:0.2379	4.714	0.12267	667	0.61242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.008152	0.002924	0.000000	0.034483	0.000000	0.000000	0.05	1455.43	34	chr14	64220540	.	A	T	1455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.748;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-2.059;SOR=0.708	GT:AD:DP:GQ:PL	0/1:41,63:104:99:1467,0,944	9	0	1	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24,ATXN3:NM_001164774:exon3:c.233_234insC:p.P80Tfs*24,ATXN3:NM_001164777:exon3:c.113_114insC:p.P40Tfs*24,ATXN3:NM_001164776:exon4:c.278_279insC:p.P95Tfs*24,ATXN3:NM_001164778:exon6:c.431_432insC:p.P146Tfs*24,ATXN3:NM_001164779:exon6:c.553_554insC:p.G185Afs*12,ATXN3:NM_001164780:exon7:c.379_380insC:p.G127Afs*12,ATXN3:NM_001127697:exon8:c.763_764insC:p.G255Afs*12,ATXN3:NM_001164781:exon8:c.706_707insC:p.G236Afs*12,ATXN3:NM_001127696:exon9:c.871_872insC:p.G291Afs*12,ATXN3:NM_030660:exon9:c.751_752insC:p.G251Afs*12,ATXN3:NM_004993:exon10:c.916_917insC:p.G306Afs*12	Machado-Joseph disease, Autosomal dominant	98	926	380	118	0	616	0.249595	.	.	.	390136	ATXN3-related_disorder|Azorean_disease|not_specified|not_provided	.|MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150,Orphanet:98757|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3624	0.1685	0.3080	0.2350	0.3289	0.3820	0.3723	0.5076	0.0120639	314	26028	rs763461489	0.3602	0.2726	0.3598	0.3606	0.4269	0.3591	0.3586	0.4211	0.4187	0.2335	0.2356	0.4259	0.4269	0.3289	0.3968	0.3614	0.3556	0.3795	0.4786	0.4687	0.4802	0.4770	0.5397	0.4742	0.4724	0.5165	0.5072	0.4754	0.5068	0.4371	0.5341	0.4620	0.4534	0.4936	0.4840	0.4802	0.5397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	11893.0	62	chr14	92071009	.	C	CG	11893.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.81;DP=780;ExcessHet=5.1594;FS=0.555;InbreedingCoeff=-0.4155;MLEAC=9;MLEAF=0.45;MQ=59.49;MQRankSum=-1.283;QD=19.46;ReadPosRankSum=-0.33;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,26:66:99:.:.:684,0,1190:.	2	1	7	0
chr14	95115562	95115562	G	A	intronic	DICER1	.	.	.	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	23	1096	320	83	0	486	0.181479	.	.	.	505595	not_provided|DICER1-related_tumor_predisposition|not_specified	MedGen:C3661900|MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.165735	.	.	.	.	.	.	.	.	0.0356852	5517	154602	rs2275182	0.1908	0.1888	0.1943	0.1875	0.3161	0.1901	0.1899	0.3105	0.3082	0.3161	0.1109	0.2679	0.0414	0.1976	0.2523	0.2055	0.1914	0.0828	0.2199	0.2200	0.2255	0.2140	0.3112	0.2179	0.2171	0.3067	0.3049	0.3112	0.2314	0.1592	0.2689	0.0394	0.1958	0.2891	0.2018	0.2343	0.0806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1569.96	11	chr14	95115562	.	G	A	1569.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.084;DP=129;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.2501;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-0.652;SOR=0.565	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,3:10:94:.:.:94,0,273:.	3	1	6	0
chr14	104948961	104948961	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6190A:p.G2064R,AHNAK2:NM_138420:exon7:c.G6490A:p.G2164R	.	681	829	8	4	0	16	0.00955795	.	.	.	2340032	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.099	0.00414373534812	0.0006	0.000399361	0.0007	0.0014	0.0006	0	0	0.0004	0.0013	0.0020	7.68e-05	2	26028	rs200342474	0.0004	0.0004	0.0003	0.0005	0.0044	0.0004	0.0003	0.0028	0.0023	0.0010	0.0005	0	2.539e-05	0	0.0044	0.0002	0.0006	0.0020	0.0006	0.0008	0.0007	0.0006	0.0018	0.0005	0.0005	0.0008	0.0006	0.0009	0	0.0012	0	0	0	0	0.0003	0.0020	0.0018	0.533	0.06957	T	0.04	0.50809	D	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	1	0.24005	N	2.36	0.67893	M	4.13	0.02865	T	-2.17	0.49018	N	0.219	0.24510	-1.0797	0.07407	T	0.045	0.19518	T	9	0.011158854	0.00245	T	0.004144	0.09931	T	0.099	0.28413	0.324	0.30549	0.250039746154	0.24611	0.005355624157952884	0.00506	.	.	0.248388916254	0.03600	T	0.093677	0.39260	T	-0.517502	0.00455	T	-0.573907	0.15093	T	0.0503001138567924	0.05553	T	0.779622	0.41374	T	0.086888	0.20213	0.18191162	0.41084	0.086888	0.20213	0.18191162	0.41083	-8.662	0.65497	D	.	.	0.148	0.32637	B	.	.	2.571896	0.33327	19.31	0.98585054737644706	0.43297	0.02122	0.06269	N	AEFBI	.	.	.	0.0907639512908889	0.46032	2.850016	-0.148872753103853	0.33451	1.91366	0.00284535610033142	0.09746	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.35	4.35	0.51454	0.535000	0.22822	-11.662000	0.00586	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.8349:0.1651:0.0	12.784	0.56875	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003567	0.000000	0.001420	0.009346	0.000000	0.000000	0.000000	0.013158	0.07143	3030.65	19	chr14	104948961	.	C	T	3030.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.27;DP=1789;ExcessHet=0;FS=7.537;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.071;MQ=58.31;MQRankSum=-3.359;QD=8.99;ReadPosRankSum=-4.415;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,91:337:99:0|1:104948957_A_G:3040,0,10029:104948957	6	0	1	3
chr14	104948963	104948963	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T6188A:p.F2063Y,AHNAK2:NM_138420:exon7:c.T6488A:p.F2163Y	.	680	830	8	4	0	16	0.00954654	.	.	.	2340030	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.160	0.00423400417451	.	0.000399361	0.0006	0.0005	0.0006	0	0	0.0004	0.0013	0.0019	7.68e-05	2	26028	rs558985278	0.0003	0.0004	0.0003	0.0004	0.0044	0.0003	0.0003	0.0028	0.0023	6.105e-05	0.0005	0	2.54e-05	0	0.0044	0.0002	0.0006	0.0019	0.0004	0.0005	0.0003	0.0005	0.0018	0.0003	0.0003	0.0008	0.0006	0.0002	0	0.0012	0	0	0	0	0.0003	0.0014	0.0018	0.125	0.27310	T	0.014	0.62352	D	0.995	0.67487	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.61	0.76335	M	4.7	0.01673	T	-1.48	0.36189	N	0.282	0.31925	-1.0859	0.06245	T	0.035	0.14857	T	9	0.015946686	0.00335	T	0.004234	0.10216	T	0.160	0.41473	.	.	0.0666544352282	0.05500	0.00412412185900262	0.00387	.	.	0.304902017117	0.11135	T	0.092826	0.39085	T	-0.345376	0.05025	T	-0.497217	0.22636	T	0.0728509215486033	0.09046	T	0.549445	0.18903	T	0.15074746	0.34303	0.14362918	0.34127	0.15074746	0.34302	0.14362918	0.34126	-11.076	0.80073	D	.	.	0.275	0.50898	B	.	.	3.219894	0.43869	21.8	0.95443313603458479	0.26952	0.81626	0.40992	D	AEFBI	.	.	.	0.30677126144156	0.56495	3.814335	0.094457377813433	0.44269	2.711977	0.999337509708066	0.39185	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.35	4.35	0.51454	5.031000	0.63918	1.832000	0.29123	0.660000	0.55035	0.970000	0.34288	0.001000	0.17328	0.002000	0.04165	1.0:0.0:0.0:0.0	13.585	0.61389	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002969	0.000000	0.001420	0.004630	0.000000	0.000000	0.000000	0.013274	0.07143	2993.65	.	chr14	104948963	.	A	T	2993.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.427;DP=1639;ExcessHet=0;FS=6.656;MLEAC=1;MLEAF=0.071;MQ=58.32;MQRankSum=-3.412;QD=8.99;ReadPosRankSum=-4.585;SOR=1.059	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,89:333:99:0|1:104948957_A_G:3003,0,9978:104948957	6	0	1	3
chr15	34789193	34789193	G	A	ncRNA_intronic	LOC101928174	.	.	.	.	1109	409	3	1	0	5	0.00607533	.	.	.	322283	Dilated_cardiomyopathy_1R|Hypertrophic_cardiomyopathy_11|not_provided	MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs139559367	0	0.0006	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	.	0.0031	0.0031	0.0033	0.0030	0.0063	0.0029	0.0028	0.0053	0.0049	0.0007	0.0044	0.0063	0.0107	0	9.423e-05	0.0136	0.0041	0.0047	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2556.43	128	chr15	34789193	.	G	A	2556.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.172;DP=840;ExcessHet=0;FS=0.493;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.711;SOR=0.735	GT:AD:DP:GQ:PL	0/1:111,107:218:99:2568,0,2967	9	0	1	0
chr15	34791308	34791311	CACA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322319	Cardiovascular_phenotype|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.244808	.	.	.	.	.	.	.	.	0.0038036	99	26028	rs572654192	0.0856	0.1084	0.0840	0.0873	0.0998	0.0852	0.0850	0.0966	0.0953	0.0998	0.0810	0.1028	0.0190	0.1503	0.0970	0.0833	0.0926	0.0968	0.1173	0.1181	0.1162	0.1185	0.1258	0.1158	0.1151	0.1191	0.1182	0.1072	0.0878	0.1032	0.1344	0.0167	0.1954	0.1007	0.1214	0.1224	0.1258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	22028.3	59	chr15	34791307	.	TCACA	T	22028.3	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.545;DP=1400;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=33.13;ReadPosRankSum=-0.415;SOR=0.688	GT:AD:DP:GQ:PL	1/1:1,48:63:99:2312,162,0	6	1	3	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	26	0	7	1489	0	2985	1	0	0	.	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	40902.2	147	chr15	59256276	.	C	T	40902.2	.	AC=20;AF=1;AN=20;BaseQRankSum=2.57;DP=1498;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=20;MLEAF=1;MQ=60;MQRankSum=0;QD=27.82;ReadPosRankSum=0.755;SOR=0.158	GT:AD:DP:GQ:PL	1/1:0,141:141:99:3830,423,0	0	10	0	0
chr15	68207979	68207979	-	AC	UTR3	CLN6	NM_017882:c.*160_*161insGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323238	not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive	MedGen:C3661900|MedGen:CN239323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.334465	.	.	.	.	.	.	.	.	0.0030352	79	26028	rs138882836	0.3617	0.3201	0.3572	0.3657	0.5137	0.3603	0.3597	0.5067	0.5038	0.1449	0.3834	0.3623	0.5137	0.3802	0.3685	0.3407	0.3479	0.4469	0.3749	0.3760	0.3645	0.3859	0.7752	0.3723	0.3712	0.7549	0.7466	0.1625	0.5408	0.4370	0.4553	0.7752	0.4773	0.4041	0.4204	0.3920	0.6213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1399.84	5	chr15	68207979	.	G	GAC	1399.84	.	AC=7;AF=0.5;AN=14;DP=56;ExcessHet=0;FS=0;InbreedingCoeff=0.6493;MLEAC=9;MLEAF=0.643;MQ=60;QD=28.43;SOR=1.552	GT:AD:DP:GQ:PL	1/0:0,8:12:99:427,168,144	2	2	3	3
chr15	68207980	68207983	ACAC	-	UTR3	CLN6	NM_017882:c.*160_*157delGTGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	205	10	0	6	5	17	0.375	.	.	.	341232	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_provided	MedGen:CN239323|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs141886537	0.4732	0.4569	0.4793	0.4678	0.5300	0.4716	0.4709	0.5278	0.5268	0.3809	0.4432	0.4817	0.1587	0.4999	0.4595	0.5300	0.4818	0.3368	0.4804	0.4792	0.4870	0.4734	0.5565	0.4774	0.4762	0.5518	0.5498	0.3924	0.4592	0.4948	0.4910	0.1749	0.5171	0.5274	0.5565	0.4919	0.3444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1399.84	5	chr15	68207979	.	GACAC	G	1399.84	.	AC=3;AF=0.214;AN=14;DP=56;ExcessHet=0;FS=0;InbreedingCoeff=0.6493;MLEAC=4;MLEAF=0.286;MQ=60;QD=28.43;SOR=1.552	GT:AD:DP:GQ:PL	0/1:0,4:12:99:427,279,324	4	0	3	3
chr16	15725134	15725134	-	A	UTR3	NDE1	NM_001143979:c.*883_*884insA;NM_017668:c.*883_*884insA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	324437	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs757597336	0.1707	0.1347	0.1695	0.1717	0.2049	0.1696	0.1691	0.2010	0.1994	0.1259	0.1616	0.1633	0.1415	0.1620	0.1554	0.1727	0.1654	0.2049	0.0641	0.0652	0.0636	0.0646	0.1044	0.0629	0.0625	0.1016	0.1005	0.1044	0.1014	0.0466	0.0431	0.0185	0.0385	0.0296	0.0487	0.0662	0.0833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1358.7	137	chr16	15725134	.	T	TA	1358.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.481;DP=1231;ExcessHet=2.8389;FS=3.628;InbreedingCoeff=-0.3619;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=-0.384;SOR=0.443	GT:AD:DP:GQ:PL	0/1:84,23:121:99:178,0,1847	7	0	3	0
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1634.92	36	chr16	23445969	.	TA	T	1634.92	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.342;DP=418;ExcessHet=22.563;FS=3.646;InbreedingCoeff=-0.9779;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=0.556;SOR=0.498	GT:AD:DP:GQ:PL	0/1:14,4:29:52:52,0,334	0	0	10	0
chr16	28843151	28843151	A	G	intronic	TUFM	.	.	.	Combined oxidative phosphorylation deficiency 4, Autosomal recessive	1	1517	4	0	0	4	0.00131666	0.0001	0	.	324927	Combined_oxidative_phosphorylation_deficiency|not_provided	MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0002	0	0.0003	0	0	0.0002	0	0.0006	0.0001746	27	154602	rs376169369	9.782e-05	9.782e-05	8.031e-05	0.0001	0.0009	8.444e-05	7.921e-05	0.0004	0.0004	0.0002	0.0004	0	0	0	0.0009	4.946e-05	0.0001	0.0006	9.2e-05	9.194e-05	8.994e-05	9.416e-05	0.0002	5.528e-05	4.365e-05	5.289e-05	2.836e-05	9.651e-05	0	0.0002	0	0	0	0	7.35e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	438.43	29	chr16	28843151	.	A	G	438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=340;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.236;SOR=1.218	GT:AD:DP:GQ:PL	0/1:21,15:36:99:450,0,533	9	0	1	0
chr16	50710792	50710792	C	G	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C800G:p.T267S,NOD2:NM_001370466:exon4:c.C800G:p.T267S,NOD2:NM_022162:exon4:c.C881G:p.T294S	Blau syndrome, Autosomal dominant	1	1503	17	1	0	19	0.00628099	.	.	.	103775	Blau_syndrome|Regional_enteritis|Autoinflammatory_syndrome|not_provided|Inflammatory_bowel_disease_1	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.453	.	7.7e-05	0.000599042	0.0016	0	0	0	0.0159	0.0010	0.0034	0.0015	0.0012936	200	154602	rs104895425	0.0009	0.0009	0.0008	0.0009	0.0018	0.0008	0.0008	0.0016	0.0015	2.987e-05	2.236e-05	0	0	0.0158	0.0014	0.0002	0.0010	0.0018	0.0015	0.0015	0.0007	0.0024	0.0017	0.0013	0.0013	0.0008	0.0006	2.405e-05	0	0	0	0	0.0179	0	0.0004	0.0005	0.0017	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999378	0.46831	D	2.71	0.79292	M	0.01	0.62459	T	-3.03	0.62747	D	0.487	0.52119	-0.0718	0.80739	T	0.441	0.77928	T	10	0.011494249	0.00251	T	.	.	.	0.453	0.75279	0.663	0.80098	0.796638325416	0.79474	0.6449815059138468	0.64433	0.417046807606	0.42336	0.436996817589	0.30167	T	0.561292	0.85318	D	-0.314858	0.07328	T	-0.249676	0.49848	T	0.0917502078245112	0.11424	T	0.767123	0.39533	T	0.38401026	0.59605	0.37821427	0.62904	0.5141746	0.67924	0.3304562	0.58914	-6.747	0.52163	T	0.6404888967544875	0.71113	0.333	0.55403	B	.;.	.;.	3.646754	0.51738	23.1	0.99442847584936889	0.64870	0.92131	0.55013	D	AEFDBI	0.536069	0.55443	D	0.56547503334926	0.71030	5.589233	0.473089049408269	0.66213	4.922825	0.999999985701156	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	4.59	0.56297	2.739000	0.47083	3.264000	0.37112	-0.176000	0.10722	0.987000	0.36337	0.998000	0.33993	0.118000	0.19084	0.0:0.9173:0.0:0.0827	12.683	0.56298	701	0.57775	.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1741.43	98	chr16	50710792	.	C	G	1741.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=753;ExcessHet=0;FS=1.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.502;SOR=0.538	GT:AD:DP:GQ:PL	0/1:51,62:113:99:1753,0,1285	9	0	1	0
chr16	50731908	50731908	C	T	UTR3	NOD2	NM_001370466:c.*89C>T;NM_022162:c.*89C>T;NM_001293557:c.*89C>T	.	.	Blau syndrome, Autosomal dominant	2	1493	26	1	0	28	0.00928998	.	.	.	335194	Inflammatory_bowel_disease_1|not_provided|Blau_syndrome	MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MedGen:C3661900|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.00011	17	154602	rs184545855	0.0021	0.0015	0.0018	0.0023	0.0065	0.0020	0.0020	0.0060	0.0058	4.771e-05	0.0002	0	2.737e-05	0.0157	0.0055	0.0007	0.0020	0.0065	0.0020	0.0020	0.0011	0.0029	0.0071	0.0018	0.0017	0.0052	0.0045	4.812e-05	0	0.0004	0.0003	0.0002	0.0180	0	0.0009	0.0024	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	478.43	21	chr16	50731908	.	C	T	478.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.07;DP=243;ExcessHet=0;FS=2.069;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=0.603;SOR=0.273	GT:AD:DP:GQ:PL	0/1:10,17:27:99:490,0,317	9	0	1	0
chr16	56511263	56511263	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon3:c.A367G:p.I123V,BBS2:NM_031885:exon3:c.A367G:p.I123V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	7	1085	379	51	0	481	0.181441	.	.	YES	255825	Bardet-Biedl_syndrome|not_specified|Retinitis_pigmentosa_74|Bardet-Biedl_syndrome_1|not_provided|Bardet-Biedl_syndrome_2|Retinal_dystrophy	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:C3661900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	.	0.1954	0.263578	0.2092	0.2292	0.3062	0.4101	0.1777	0.1703	0.2080	0.1939	0.205702	31802	154602	rs11373	0.1869	0.1869	0.1878	0.1860	0.4109	0.1863	0.1861	0.4056	0.4034	0.2297	0.2862	0.2119	0.4109	0.1735	0.1505	0.1732	0.1982	0.1882	0.2072	0.2074	0.2067	0.2076	0.4000	0.2052	0.2045	0.3857	0.3798	0.2319	0.1020	0.2418	0.2044	0.4000	0.1837	0.1361	0.1761	0.2111	0.1922	0.562	0.06341	T	0.544	0.11829	T	.	.	.	.	.	.	0.006774	0.31811	N	0.376395	0.726341	0.29873	P	.	.	.	-1.58	0.81987	D	-0.24	0.11008	N	0.056	0.06454	-1.0141	0.25625	T	0.000	0.00011	T	9	0.0039009154	0.00074	T	.	.	.	0.169	0.43123	.	.	.	.	0.40657062324920235	0.40573	0.20816477634	0.23283	0.361940145493	0.19669	T	0.222663	0.58657	T	-0.576094	0.00204	T	-0.456476	0.26983	T	0.00215051843252122	0.00022	T	0.759724	0.38410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647	B	.;.	.;.	0.874631	0.12478	9.008	0.60179440470861367	0.06401	0.81298	0.40731	D	AEFBI	0.120463	0.23466	N	-0.808476354663507	0.13093	0.6426372	-0.64647875390651	0.18306	0.9772973	0.744928693620984	0.23270	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.9	0.542	0.16365	0.398000	0.20624	-0.822000	0.07291	0.654000	0.53741	0.997000	0.40164	0.001000	0.17328	0.854000	0.40426	0.0:0.3239:0.1315:0.5446	5.865	0.18019	453	0.79178	Ciliary BBSome complex subunit 2, N-terminal;.	OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT1E|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT4|OGFOD1|AMFR|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|OGFOD1	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	BBS2|NUDT21|BBS2|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2	Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs11373	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.187311	0.237374	0.202446	0.140351	0.250000	0.172414	0.149390	0.200758	0.25	7045.15	35	chr16	56511263	.	T	C	7045.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.697;DP=736;ExcessHet=2.8389;FS=0.528;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.4;SOR=0.659	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1557,0,998	5	0	5	0
chr16	74740049	74740049	G	A	exonic	FA2H	.	nonsynonymous SNV	FA2H:NM_024306:exon2:c.C337T:p.R113W	Spastic paraplegia 35, autosomal recessive, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	375399	Hereditary_spastic_paraplegia_35|Hereditary_spastic_paraplegia|Spastic_paraplegia|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319,Orphanet:171629|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	0.144536642185	0.0008	.	0.0007	0.0002	0.0008	0.0001	0.0006	0.0009	0	0	0.0005821	90	154602	rs141276237	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0004	0.0020	0.0017	5.974e-05	0.0009	0.0053	0	0.0006	0.0031	0.0003	0.0008	9.275e-05	0.0005	0.0005	0.0005	0.0006	0.0014	0.0004	0.0004	0.0010	0.0008	4.829e-05	0	0.0014	0.0043	0	0.0009	0	0.0004	0.0014	0	0.045	0.40832	D	0.077	0.42436	T	0.996	0.68779	D	0.528	0.48482	P	0.148510	0.18047	N	0.580298	0.999962	0.26515	N	2.175	0.60977	M	-2.12	0.86283	D	-1.72	0.40850	N	0.235	0.26475	-0.3227	0.74346	T	0.502	0.81188	D	10	0.0102182925	0.00228	T	0.144537	0.82679	D	0.274	0.59007	.	.	0.657747481773	0.65488	0.5472668999718603	0.54652	0.661139551435	0.58907	0.217487826943	0.01170	T	0.342776	0.71150	T	-0.291061	0.09529	T	-0.266279	0.48196	T	0.0229355689889746	0.01015	T	0.714229	0.34112	T	0.036097545	0.04375	0.043120515	0.05293	0.033653986	0.03627	0.04043278	0.04369	-6.501	0.50294	T	0.4198720639045686	0.50881	0.084	0.26514	B	.;.	.;.	3.389107	0.46917	22.4	0.99818023649359167	0.90150	0.14845	0.18615	N	AEFGBCI	0.250638	0.37065	N	-0.357750809218298	0.26990	1.477261	-0.452573229885999	0.23476	1.280455	0.999914401855472	0.45857	0.646311	0.45356	0	0.659912	0.62753	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.74	1.07	0.19399	0.850000	0.27389	1.171000	0.24625	-1.792000	0.00636	0.719000	0.28811	0.861000	0.27489	0.010000	0.09038	0.0:0.0:0.5171:0.4829	10.559	0.44320	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1698.43	33	chr16	74740049	.	G	A	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=435;ExcessHet=0;FS=3.268;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=1.07;SOR=0.547	GT:AD:DP:GQ:PL	0/1:55,70:125:99:1710,0,1135	9	0	1	0
chr16	81096282	81096282	C	A	UTR5	GCSH	NM_004483:c.-4G>T	.	.	Glycine encephalopathy, Autosomal recessive	48	1134	338	2	0	342	0.131034	.	.	.	797414	not_provided|GCSH-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1306	.	0.125	.	.	0.2	0	0.13	3.84e-05	1	26028	rs779613867	0.0530	0.1491	0.0569	0.0490	0.0617	0.0525	0.0523	0.0611	0.0608	0.0419	0.0274	0.0224	0.0065	0.0052	0.0352	0.0617	0.0371	0.0404	0.0003	0.0025	0.0004	0.0003	0.0006	0.0003	0.0002	0.0003	0.0002	0.0002	0.0011	0.0002	0	0.0006	0.0009	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	37.45	11	chr16	81096282	.	C	A	37.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.191;DP=183;ExcessHet=0.7463;FS=1.202;InbreedingCoeff=-0.1768;MLEAC=2;MLEAF=0.1;MQ=50.44;MQRankSum=-2.287;QD=0.59;ReadPosRankSum=-0.597;SOR=0.463	GT:AD:DP:GQ:PL	0/1:22,4:26:21:21,0,582	7	0	3	0
chr16	88721827	88721827	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon37:c.C5195T:p.T1732M	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	408	1031	79	4	0	87	0.0404839	.	.	.	1181440	not_specified|not_provided|Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema|Lymphatic_malformation_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843,Orphanet:568062	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.287	.	0.0068	0.0091853	0.0227	0.0016	0.0238	0	0	0.0106	0.0270	0.0353	0.0035058	542	154602	rs139051768	0.0113	0.0108	0.0105	0.0121	0.0310	0.0111	0.0111	0.0300	0.0296	0.0018	0.0085	0.0028	2.8e-05	0.0020	0.0225	0.0111	0.0124	0.0310	0.0082	0.0082	0.0078	0.0087	0.0288	0.0079	0.0077	0.0249	0.0234	0.0023	0.0011	0.0136	0.0029	0.0002	0.0021	0.0238	0.0110	0.0104	0.0288	0.124	0.27426	T	0.179	0.29540	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	2.43	0.70455	M	1.64	0.27822	T	-4.14	0.75220	D	0.236	0.26596	-0.8337	0.53061	T	0.143	0.46440	T	10	0.008827269	0.00200	T	.	.	.	0.287	0.60574	.	.	.	.	0.8275877639731726	0.82716	.	.	0.723132669926	0.70503	T	0.136555	0.46899	T	-0.320359	0.06868	T	-0.209265	0.53765	T	0.0154267441708618	0.00346	T	0.711729	0.32279	T	0.19427642	0.41172	0.21956755	0.46701	0.19427642	0.41172	0.21956755	0.46700	-8.997	0.67678	D	0.2421464060211977	0.32799	0.098	0.16143	B	.	.	4.477908	0.69836	25.4	0.99344485973975294	0.60331	0.96787	0.70937	D	AEFDGBCI	0.770515	0.70544	D	0.570636715526822	0.71347	5.637105	0.498873009906848	0.67916	5.148483	0.999990982311223	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.84	3.88	0.43959	6.157000	0.71647	3.915000	0.40434	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.713000	0.34548	0.0:0.0:0.851:0.149	14.422	0.66765	873	0.30802	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.019370	0.012048	0.026667	0.050000	0.000000	0.000000	0.012346	0.011111	0.1	5221.14	61	chr16	88721827	.	G	A	5221.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.714;DP=972;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.783;SOR=0.671	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1597,0,1449	8	0	2	0
chr16	89145370	89145370	G	C	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon7:c.G675C:p.E225D,ACSF3:NM_001127214:exon8:c.G1470C:p.E490D,ACSF3:NM_001243279:exon9:c.G1470C:p.E490D,ACSF3:NM_174917:exon9:c.G1470C:p.E490D	Combined malonic and methylmalonic aciduria	0	1508	14	0	0	14	0.00462046	.	.	YES	375624	Combined_malonic_and_methylmalonic_acidemia|not_provided	MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.750	0.123485323285	7.7e-05	0.000399361	0.0002	0	0	0	0	3.017e-05	0	0.0017	0.000207	32	154602	rs147538370	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	2.987e-05	6.708e-05	0	0	0	0.0033	5.126e-05	0.0004	0.0014	9.845e-05	9.841e-05	6.422e-05	0.0001	0.0017	6e-05	4.874e-05	0.0008	0.0006	0	0	0	0	0	0	0	0.0001	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000094	0.51296	D	0.127272	0.983711	0.40050	D	3.305	0.90531	M	-1.22	0.78752	T	-2.64	0.60982	D	0.955	0.96416	0.288	0.87365	D	0.599	0.85727	D	10	0.27069536	0.44603	T	0.123485	0.80466	D	0.750	0.91413	0.938	0.99130	0.482721949076	0.47902	0.9240531718369235	0.92382	0.288101061184	0.31214	0.649389743805	0.59899	T	0.396581	0.77859	T	0.0883325	0.63001	D	0.324028	0.89258	D	0.437109708786011	0.30323	T	0.969003	0.97142	D	0.78012085	0.82661	0.57322186	0.75281	0.78012085	0.82663	0.57322186	0.75282	-14.468	0.94478	D	0.5781481678380671	0.64505	0.955	0.90555	P	.;.;.;.;.	.;.;.;.;.	3.999771	0.58929	24.0	0.99852791191937929	0.93191	0.93234	0.57675	D	AEFDGBHCI	0.637426	0.61622	D	0.538204470214631	0.69366	5.346793	0.450613761952801	0.64757	4.738273	0.999986570142432	0.51787	0.743674	0.98306	0	0.702456	0.74545	0	0.635938	0.45252	0	0.584449	0.35598	0	.	.	4.69	4.69	0.58546	2.966000	0.48900	4.901000	0.45859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.1417:0.0:0.8583:0.0	9.515	0.38263	884	0.28482	AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.000000	0.012195	0.003788	0.05	1464.43	36	chr16	89145370	.	G	C	1464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.33;DP=469;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.227;SOR=0.732	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1476,0,1655	9	0	1	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	782.83	142	chr17	3648932	.	G	C	782.83	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.825;DP=1043;ExcessHet=15.1594;FS=349.684;InbreedingCoeff=-0.844;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.02;SOR=12.061	GT:AD:DP:GQ:PL	0/1:41,28:78:99:123,0,720	1	0	9	0
chr17	9600164	9600164	C	T	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon5:c.C530T:p.A177V,CFAP52:NM_145054:exon6:c.C734T:p.A245V	.	433	1088	1	0	0	1	0.000459348	.	.	.	998130	Situs_inversus|not_specified	Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.004	0.0796174494585	0.0002	0.000199681	0.0003	9.612e-05	8.637e-05	0.0002	0	0.0005	0.0011	0	0.0002717	42	154602	rs146845939	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.988e-05	0.0002	0.0002	0.0002	0	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	6.543e-05	0.0003	0.0004	0	0	0.0004	0	0	0.784	0.03631	T	0.31	0.19721	T	0.001	0.07471	B	0.002	0.06944	B	0.032047	0.01747	N	1.894180	1	0.08975	N	.	.	.	-2.55	0.89561	D	-0.62	0.18670	N	0.116	0.10483	-0.5802	0.65609	T	0.402	0.75309	T	10	0.015265524	0.00320	T	0.079617	0.73276	D	0.004	0.00165	.	.	0.0611884634855	0.05136	0.18415358526265754	0.18334	0.0998433146772	0.11279	0.305788010359	0.11271	T	0.023701	0.18043	T	-0.467747	0.00878	T	-0.575513	0.14947	T	0.00285619285100528	0.00030	T	0.322368	0.06563	T	0.027074432	0.01850	0.03501601	0.02673	0.027074432	0.01849	0.03501601	0.02672	-1.016	0.01132	T	.	.	0.066	0.02797	B	.;.	.;.	-0.946188	0.00851	0.030	0.64780506705715379	0.07588	0.00525	0.02440	N	AEFDI	0.029829	0.02888	N	-1.89337745688212	0.00354	0.01521652	-1.9570043181808	0.00376	0.01662068	0.117305818003433	0.16798	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	-8.43	0.00833	-1.337000	0.02764	-8.090000	0.01030	-1.542000	0.00977	0.000000	0.06391	0.000000	0.08366	0.531000	0.29730	0.1743:0.4252:0.0:0.4004	8.169	0.30401	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1329.43	35	chr17	9600164	.	C	T	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.908;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.23;SOR=0.647	GT:AD:DP:GQ:PL	0/1:74,59:133:99:1341,0,1678	9	0	1	0
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4811.16	26	chr17	18130817	.	A	AGT	4811.16	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.661;DP=1077;ExcessHet=0.7463;FS=2.778;InbreedingCoeff=-0.1765;MLEAC=8;MLEAF=0.4;MQ=59.99;MQRankSum=0;QD=17.89;ReadPosRankSum=0.434;SOR=1.055	GT:AD:DP:GQ:PL	1/0:2,8:16:99:390,117,118	2	0	8	0
chr17	18130817	18130817	-	GTGT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	337410	not_specified|not_provided|Hearing_loss,_autosomal_recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019978	52	26028	rs1491181087	0.0480	0.0698	0.0458	0.0501	0.0574	0.0476	0.0475	0.0560	0.0554	0.0490	0.0555	0.0850	0.0446	0.0711	0.0508	0.0437	0.0644	0.0574	0.1711	0.1750	0.1760	0.1654	0.1878	0.1689	0.1680	0.1846	0.1832	0.1500	0.1468	0.1764	0.2774	0.0658	0.1265	0.2198	0.1878	0.1694	0.1291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4811.16	26	chr17	18130817	.	A	AGTGT	4811.16	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.661;DP=1077;ExcessHet=0.7463;FS=2.778;InbreedingCoeff=-0.1765;MLEAC=4;MLEAF=0.2;MQ=59.99;MQRankSum=0;QD=17.89;ReadPosRankSum=0.434;SOR=1.055	GT:AD:DP:GQ:PL	0/1:2,6:16:99:390,152,166	6	0	4	0
chr17	18148547	18148547	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon31:c.C6743T:p.A2248V	Deafness, autosomal recessive 3, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	54920	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.661	.	0.0003	0.00439297	0.0093	0.0005	0.0023	0	0	0.0016	0.0104	0.0216	0.0017982	278	154602	rs199831544	0.0014	0.0014	0.0008	0.0020	0.0182	0.0013	0.0013	0.0174	0.0171	6.324e-05	5.569e-05	0.0073	0	0	0.0028	0.0002	0.0018	0.0182	0.0008	0.0008	0.0006	0.0010	0.0145	0.0007	0.0006	0.0118	0.0108	9.627e-05	0	0.0005	0.0066	0	0	0	0.0002	0.0009	0.0145	0.043	0.41364	D	0.002	0.79402	D	0.91	0.50240	P	0.335	0.42239	B	.	.	.	.	0.999897	0.50595	D	3.17	0.88688	M	-2.51	0.89293	D	-3.82	0.71997	D	0.377	0.58883	0.520	0.90822	D	0.670	0.88546	D	9	0.0093669295	0.00212	T	.	.	.	0.661	0.87332	.	.	0.779154654256	0.77711	0.7726035762880744	0.77210	.	.	0.560795664787	0.47380	T	0.128323	0.88232	T	-0.208815	0.19545	T	-0.0577883	0.66487	T	0.0954846278579105	0.11853	T	0.884712	0.60854	D	0.38575172	0.59729	0.37404418	0.62579	0.36982277	0.58572	0.40623018	0.65002	-9.642	0.71740	D	0.6357685959209678	0.70577	0.352	0.56696	A	.;.;.	.;.;.	4.075321	0.60581	24.2	0.99693189963661699	0.80112	0.92504	0.55867	D	AEFBI	0.381485	0.46373	N	0.403898352134571	0.61637	4.367414	0.395471302872952	0.61285	4.326514	0.996981160912718	0.35173	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.3	4.3	0.50540	4.537000	0.60354	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.520	0.84159	190	0.92594	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001618	0.000000	0.000000	0.000000	0.000000	0.009615	0.000000	0.004032	0.1	1425.14	34	chr17	18148547	.	C	T	1425.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.266;DP=423;ExcessHet=0.2348;FS=2.071;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.383;SOR=0.541	GT:AD:DP:GQ:PL	0/1:51,37:88:99:826,0,1199	8	0	2	0
chr17	19909228	19909228	T	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_001330152:exon13:c.A1762G:p.I588V,AKAP10:NM_007202:exon14:c.A1936G:p.I646V	.	429	489	464	140	0	744	0.432056	.	.	.	20443	Reclassified_-_variant_of_unknown_significance|AKAP10-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.4504	0.39397	0.3737	0.5879	0.4229	0.1824	0.3464	0.3790	0.3377	0.2956	0.373016	57669	154602	rs203462	0.3854	0.3855	0.3891	0.3817	0.5952	0.3846	0.3842	0.5883	0.5855	0.5952	0.4193	0.3679	0.2016	0.3461	0.4069	0.3927	0.3889	0.3035	0.4277	0.4279	0.4312	0.4241	0.5838	0.4250	0.4238	0.5777	0.5751	0.5838	0.3626	0.4303	0.3698	0.1901	0.3480	0.4150	0.3766	0.4152	0.2874	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999797	0.20333	P	-2.015	0.00187	N	2.01	0.21291	T	0.31	0.04022	N	0.118	0.10769	-0.9687	0.37468	T	0.000	0.00011	T	9	5.4074975e-05	0.00009	T	.	.	.	0.120	0.33359	.	.	.	.	0.1933210593021231	0.19250	0.178928352935	0.20133	0.692670106888	0.66089	T	0.062406	0.31909	T	-0.636176	0.00088	T	-0.542779	0.18025	T	0.00597241672880667	0.00066	T	0.305869	0.05863	T	0.049374104	0.08756	0.061363425	0.11835	0.049374104	0.08756	0.061363425	0.11835	-1.044	0.01049	T	.	.	0.048	0.00179	B	.;.	.;.	1.819896	0.23127	15.90	0.48678567446506221	0.04082	0.07005	0.13031	N	AEFGBI	0.025493	0.01754	N	-0.652311836236643	0.17393	0.8946286	-0.344221069595134	0.26688	1.475766	0.998595863275224	0.37268	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.88	5.88	0.94564	3.391000	0.52271	5.998000	0.52441	-0.192000	0.09343	0.976000	0.34826	1.000000	0.68203	0.953000	0.50222	0.0:0.9244:0.0:0.0756	12.685	0.56308	587	0.69154	A-kinase anchor protein 10, PKA-binding (AKB) domain;A-kinase anchor protein 10, PKA-binding (AKB) domain	RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|AKAP10|RP11-209D14.2|RP11-78O7.2|AKAP10|RP11-209D14.2|CCDC144CP|RP11-78O7.2|RP11-78O7.2|RP11-78O7.2|CCDC144CP|RP11-78O7.2|USP32P3|RP11-78O7.2|RP11-78O7.2|CCDC144CP|USP32P3|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|RP11-78O7.2|RP11-78O7.2|AKAP10|LGALS9B|KRT16P3|RP11-78O7.2|AKAP10|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|AKAP10|RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|CCDC144CP|AKAP10|LGALS9B|RP11-78O7.2|AKAP10|RP11-78O7.2|LGALS9B|RP11-209D14.2|CCDC144CP|USP32P3|SRP68P3|NOS2P3|AC008088.4|RP11-78O7.2|AKAP10|CCDC144CP|USP32P3|RP11-209D14.4|AKAP10|LGALS9B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	AKAP10|CCDC144CP|CCDC144CP|CCDC144CP|CCDC144CP|KRT16P3|CCDC144CP|KRT17P7	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Mucosa|Testis|Testis	rs203462	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.427923	0.474747	0.483696	0.461988	0.350000	0.431034	0.300613	0.378788	0.55	15351.0	154	chr17	19909228	.	T	C	15351.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.693;DP=1085;ExcessHet=5.1594;FS=2.512;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.63;SOR=0.794	GT:AD:DP:GQ:PL	0/1:65,39:104:99:804,0,1471	1	2	7	0
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	43672.0	220	chr17	21300880	.	C	T	43672.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.13;DP=2653;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.715;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,129:269:99:0|1:21300875_G_T:4905,0,5380:21300875	0	0	10	0
chr17	59064408	59064408	A	-	intronic	TRIM37	.	.	.	Mulibrey nanism, Autosomal recessive	3	160	18	1	44	64	0.0588235	.	.	.	329188	Mulibrey_nanism_syndrome|not_specified|not_provided	MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2284	.	0.3120	0.2552	0.3418	0.3266	0.2628	0.3084	0.3263	0.3404	0.0001921	5	26028	rs367700401	0.0985	0.1854	0.0961	0.1009	0.1579	0.0979	0.0977	0.1538	0.1521	0.0942	0.1579	0.1212	0.1240	0.1151	0.0828	0.0923	0.1014	0.1258	0.0021	0.0042	0.0020	0.0023	0.0026	0.0019	0.0018	0.0022	0.0021	0.0008	0	0.0013	0.0006	0.0006	0.0087	0.0035	0.0026	0.0021	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1564.22	147	chr17	59064407	.	TA	T	1564.22	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.113;DP=960;ExcessHet=4.5998;FS=0.67;InbreedingCoeff=-0.4288;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=0.126;SOR=0.586	GT:AD:DP:GQ:PL	0/1:68,12:80:81:81,0,1670	5	0	5	0
chr17	65536378	65536378	C	A	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813:exon7:c.G1888T:p.A630S,AXIN2:NM_004655:exon8:c.G2083T:p.A695S	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant	3	1516	3	0	0	3	0.000988468	.	.	.	402859	Oligodontia-cancer_predisposition_syndrome|not_provided|AXIN2-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified|Malignant_tumor_of_breast	MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576|MedGen:C3661900|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0259602392288	7.7e-05	0.000399361	0.0001	0	0	0	0	0	0	0.0010	0.0001229	19	154602	rs140510381	9.648e-05	9.645e-05	6.536e-05	0.0001	0.0014	8.312e-05	7.852e-05	0.0009	0.0008	0	2.237e-05	0	0	0	0.0014	2.698e-05	0.0001	0.0011	5.907e-05	5.905e-05	3.853e-05	8.053e-05	0.0006	3.074e-05	2.208e-05	0.0002	8.992e-05	2.404e-05	0	6.534e-05	0	0	0	0	5.88e-05	0	0.0006	0.494	0.20381	T	0.576	0.10572	T	0.635	0.40310	P	0.14	0.33554	B	0.000031	0.55875	D	0.157578	0.999274	0.48716	D	.	.	.	-0.1	0.64264	T	-0.37	0.14782	N	0.565	0.78546	-0.9280	0.44429	T	0.151	0.47909	T	10	0.0501076	0.04695	T	0.02596	0.48901	D	0.203	0.48915	.	.	0.548022476061	0.54458	0.3028207375143608	0.30195	0.438787105072	0.43904	0.656439304352	0.60900	T	0.252994	0.62346	T	-0.196533	0.21306	T	-0.105523	0.62967	T	0.0572892616370493	0.06736	T	0.923708	0.72135	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.35726	B	.;.;.	.;.;.	3.861600	0.56000	23.7	0.99037057214820112	0.50939	0.95258	0.64026	D	AEFDGBCI	0.582171	0.58190	D	0.144223376187249	0.48538	3.064919	0.282852381203657	0.54538	3.618497	0.999999999956578	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.41	5.41	0.78313	2.494000	0.44988	7.572000	0.60737	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9237:0.0:0.0763	12.529	0.55453	914	0.21048	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1287.43	34	chr17	65536378	.	C	A	1287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.057;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.592;SOR=0.749	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1299,0,1146	9	0	1	0
chr17	78137275	78137275	G	A	exonic	TMC8	.	nonsynonymous SNV	TMC8:NM_152468:exon10:c.G1168A:p.V390I	Epidermodysplasia verruciformis, Autosomal recessive	1	1498	21	2	0	25	0.00827541	.	.	.	467600	TMC8-related_disorder|Epidermodysplasia_verruciformis,_susceptibility_to,_2|Epidermodysplasia_verruciformis|not_provided|Epidermodysplasia_verruciformis,_susceptibility_to,_1	.|MONDO:MONDO:0032614,MedGen:C4722258,OMIM:618231|MONDO:MONDO:0009176,MedGen:C0014522,Orphanet:302|MedGen:C3661900|MONDO:MONDO:0100045,MedGen:C4722564,OMIM:226400,Orphanet:302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	0.00410324993569	0.0005	0.000399361	0.0010	0	0.0012	0	0	0.0013	0.0011	0.0013	0.0010155	157	154602	rs150546646	0.0010	0.0010	0.0009	0.0010	0.0182	0.0009	0.0009	0.0154	0.0143	0.0002	0.0015	0.0039	0	5.633e-05	0.0182	0.0008	0.0014	0.0016	0.0008	0.0008	0.0007	0.0009	0.0025	0.0007	0.0007	0.0014	0.0011	0.0002	0	0.0010	0.0029	0	9.423e-05	0.0136	0.0010	0.0024	0.0025	0.048	0.40068	D	0.021	0.58089	D	0.001	0.07471	B	0.0	0.01387	B	0.011672	0.29444	N	0.401306	0.999988	0.18198	N	0.46	0.12951	N	0.84	0.47477	T	0.31	0.04022	N	0.101	0.09207	-1.0604	0.11656	T	0.056	0.23450	T	10	0.0096693635	0.00218	T	0.004103	0.09806	T	0.034	0.08419	.	.	0.130388298395	0.12655	0.13204019004798737	0.13129	0.130157849195	0.14680	0.437267661095	0.30204	T	0.003801	0.03212	T	-0.571598	0.00216	T	-0.629215	0.10474	T	0.00663798197383947	0.00074	T	0.562444	0.21221	T	0.030031534	0.02596	0.048360277	0.07165	0.03349852	0.03579	0.04933667	0.07518	-6.709	0.51878	T	0.11291909417836925	0.09823	0.073	0.05360	B	.;.	.;.	1.783694	0.22680	15.72	0.91118520682630066	0.20371	0.58023	0.30531	D	AEFBHCI	0.158626	0.28431	N	-1.18216701621197	0.05270	0.2398276	-1.06972452013257	0.08301	0.4075489	0.99999986114992	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.612816	0.40813	0	0.584449	0.35598	0	.	.	4.28	0.753	0.17552	0.314000	0.19182	2.676000	0.33982	-0.741000	0.03665	0.231000	0.24654	0.999000	0.35428	0.613000	0.31716	0.0:0.1697:0.151:0.6793	5.308	0.15122	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.010101	0.012262	0.017544	0.000000	0.000000	0.006098	0.000000	0.05	1007.43	33	chr17	78137275	.	G	A	1007.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=422;ExcessHet=0;FS=2.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=1.2;SOR=0.471	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1019,0,1303	9	0	1	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E,CARD14:NM_001366385:exon7:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	505	725	292	0	1309	0.564467	.	.	.	390302	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.432990	0.461957	0.414127	0.444118	0.550000	0.500000	0.412500	0.418605	0.55	28735.0	180	chr17	80184196	.	G	A	28735.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.462;DP=1576;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-0.366;SOR=0.673	GT:AD:DP:GQ:PL	1/1:0,193:193:99:5892,579,0	2	3	5	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	27525.3	101	chr17	80184264	.	G	A	27525.3	.	AC=16;AF=0.8;AN=20;BaseQRankSum=0.762;DP=1051;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.375;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=28.26;ReadPosRankSum=-0.011;SOR=0.682	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3053,294,0	1	7	2	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	3	581	641	245	52	1183	0.49324	.	.	.	390303	not_specified|Psoriasis_2|Pityriasis_rubra_pilaris|not_provided	MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	9232.96	119	chr17	80202434	.	T	A	9232.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.089;DP=796;ExcessHet=2.8549;FS=0.551;InbreedingCoeff=-0.25;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.768;SOR=0.625	GT:AD:DP:GQ:PL	0/1:65,58:123:99:1301,0,1598	3	1	6	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W,CARD14:NM_001366385:exon21:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	50	677	568	227	0	1022	0.430135	.	.	YES	390229	Autoinflammatory_syndrome|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.422805	0.408163	0.445504	0.473684	0.350000	0.456897	0.380368	0.367424	0.4	16742.0	178	chr17	80205094	.	C	T	16742.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.655;DP=1279;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.58;SOR=0.675	GT:AD:DP:GQ:PL	0/1:87,61:148:99:1523,0,2082	3	1	6	0
chr17	81512035	81512035	G	A	exonic	ACTG1	.	synonymous SNV	ACTG1:NM_001199954:exon3:c.C231T:p.T77T,ACTG1:NM_001614:exon3:c.C231T:p.T77T	Baraitser-Winter syndrome 2, Autosomal dominant;Deafness, autosomal dominant 20/26, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	.	265818	Baraitser-winter_syndrome_2|Autosomal_dominant_nonsyndromic_hearing_loss_20|not_provided	MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	0.0002	0	0	0.0001	0	0.0001	0	0.0008	0.0001617	25	154602	rs375450454	0.0001	0.0001	0.0001	0.0002	0.0036	0.0001	0.0001	0.0024	0.0020	2.987e-05	0.0002	0	2.519e-05	0	0.0036	5.755e-05	0.0002	0.0011	0.0001	0.0001	8.992e-05	0.0001	0.0008	7.084e-05	5.742e-05	0.0003	0.0002	2.405e-05	0	0.0002	0	0	0	0	0.0001	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	2911.43	94	chr17	81512035	.	G	A	2911.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.364;DP=787;ExcessHet=0;FS=4.087;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.702;SOR=0.473	GT:AD:DP:GQ:PL	0/1:97,107:204:99:2923,0,2782	9	0	1	0
chr19	18790121	18790121	G	C	intronic	COMP	.	.	.	Epiphyseal dysplasia, multiple, 1, Autosomal dominant;Pseudoachondroplasia, Autosomal dominant	.	.	.	.	.	.	.	0.0008	0.046	.	348440	Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome|Multiple_epiphyseal_dysplasia_type_1|COMP-related_disorder|not_provided|not_specified	MONDO:MONDO:0008322,MedGen:C0410538,OMIM:177170,Orphanet:750|MONDO:MONDO:0007561,MedGen:C1838280,OMIM:132400,Orphanet:93308|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0004	0	0	0.0059	0	0.0005	0.0111	0	0.0001294	20	154602	rs554031979	0.0005	0.0005	0.0005	0.0006	0.0008	0.0005	0.0005	0.0005	0.0005	6.432e-05	0.0008	0	0.0005	5.242e-05	0.0008	0.0006	0.0006	9.019e-05	0.0005	0.0005	0.0007	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	0.0002	0	0.0008	0	0.0008	0	0	0.0008	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	49.43	39	chr19	18790121	.	G	C	49.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=256;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.09;ReadPosRankSum=-1.147;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,3:16:61:61,0,357	9	0	1	0
chr19	42376413	42376413	C	T	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon41:c.C7975T:p.R2659C,MEGF8:NM_001271938:exon42:c.C8176T:p.R2726C	Carpenter syndrome 2, Autosomal recessive	412	1103	7	0	0	7	0.00316313	.	.	.	694463	not_provided|MEGF8-related_Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.117	0.00965331931724	0.0021	0.000798722	0.0021	0.0005	0.0019	0	0.0011	0.0032	0.0024	0.0005	0.0018952	293	154602	rs141224456	0.0022	0.0022	0.0022	0.0021	0.0029	0.0021	0.0021	0.0022	0.0022	0.0004	0.0022	0.0095	5.039e-05	0.0010	0.0029	0.0023	0.0020	0.0006	0.0018	0.0018	0.0019	0.0017	0.0026	0.0016	0.0016	0.0023	0.0022	0.0003	0	0.0024	0.0098	0	0.0007	0	0.0026	0.0024	0.0004	0.023	0.49117	D	0.085	0.92824	T	0.0	0.17989	B	0.001	0.08700	B	0.812889	0.09237	N	0.905736	0.999998	0.58761	D	0.955	0.23872	L	1.96	0.22270	T	-2.58	0.61722	D	0.16	0.17416	-1.0988	0.04239	T	0.044	0.18865	T	10	0.00673303	0.00153	T	0.009653	0.25222	T	0.117	0.32689	.	.	0.179529687257	0.17594	0.5728963374639368	0.57217	0.732359198622	0.62783	0.758656084538	0.75730	T	0.184389	0.53703	T	-0.429655	0.01489	T	-0.393937	0.34092	T	0.0159459515029174	0.00378	T	0.868613	0.57861	D	0.16157554	0.36177	0.09934851	0.23717	0.16157554	0.36176	0.09934851	0.23716	-4.316	0.28400	T	.	.	0.111	0.36134	B	.;.;.	.;.;.	3.070899	0.41274	21.3	0.99869368422323146	0.94726	0.49394	0.28423	N	AEFBI	0.259593	0.37790	N	-0.48042692670959	0.22723	1.215323	-0.397762149140082	0.25063	1.376133	0.306898076868932	0.19247	0.718356	0.82227	0	0.633656	0.55848	0	0.570548	0.19454	0	0.683762	0.67416	0	.	.	3.9	2.84	0.32241	0.677000	0.24942	3.943000	0.40617	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.950000	0.49671	0.0:0.9052:0.0:0.0948	11.142	0.47631	553	0.71930	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1242.43	41	chr19	42376413	.	C	T	1242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=401;ExcessHet=0;FS=2.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-1.615;SOR=0.438	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1254,0,939	9	0	1	0
chr19	45496962	45496962	-	GCCGCC	UTR5	RTN2	NM_206900:c.-138_-137insGGCGGC;NM_005619:c.-138_-137insGGCGGC	.	.	Spastic paraplegia 12, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1241810	Hereditary_spastic_paraplegia|not_provided	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003112	81	26028	rs1400564712	0.0703	0.0742	0.0653	0.0746	0.1231	0.0693	0.0689	0.1135	0.1098	0.0668	0.0437	0.0460	0.0511	0.0660	0.0986	0.0733	0.0671	0.1231	0.1334	0.1333	0.1338	0.1329	0.2089	0.1318	0.1312	0.1981	0.1938	0.1545	0.1548	0.0983	0.0868	0.0767	0.1017	0.1844	0.1333	0.1439	0.2089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	702.97	10	chr19	45496962	.	A	AGCCGCC	702.97	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0;DP=78;ExcessHet=0.6204;FS=3.524;InbreedingCoeff=0.0043;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=23.43;ReadPosRankSum=1.28;SOR=1.721	GT:AD:DP:GQ:PL	0/1:2,3:5:75:120,0,75	8	1	1	0
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	65	466	590	401	0	1392	0.598967	.	.	.	334414	not_provided|Spermatogenic_Failure	MedGen:C3661900|MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	7829.44	48	chr19	57231146	.	G	GC	7829.44	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.875;DP=511;ExcessHet=0.3701;FS=0.426;InbreedingCoeff=0.1667;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.16;ReadPosRankSum=0.347;SOR=0.734	GT:AD:DP:GQ:PL	0/1:31,20:51:99:490,0,855	2	4	4	0
chr20	3230257	3230257	C	T	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_001363745:exon12:c.G1305A:p.S435S,SLC4A11:NM_032034:exon12:c.G1467A:p.S489S,SLC4A11:NM_001174089:exon13:c.G1419A:p.S473S,SLC4A11:NM_001174090:exon13:c.G1548A:p.S516S	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	335160	Corneal_dystrophy-perceptive_deafness_syndrome|Corneal_dystrophy|not_provided	MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0010	9.696e-05	0.0002	0	0	0.0003	0	0.0062	0.0008603	133	154602	rs149866580	0.0005	0.0005	0.0003	0.0006	0.0057	0.0004	0.0004	0.0053	0.0051	2.987e-05	4.473e-05	0.0036	0	0	0.0005	3.957e-05	0.0004	0.0057	0.0003	0.0003	0.0002	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	2.406e-05	0	0	0.0029	0	0	0	8.82e-05	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.002016	0.000000	0.000000	0.002924	0.000000	0.008621	0.003067	0.003788	0.05	1080.43	35	chr20	3230257	.	C	T	1080.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=385;ExcessHet=0;FS=3.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.42;SOR=0.642	GT:AD:DP:GQ:PL	0/1:32,47:79:99:1092,0,597	9	0	1	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	212	501	433	376	0	1185	0.541838	.	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	775.62	9	chr20	44429378	.	T	C	775.62	.	AC=10;AF=0.556;AN=18;DP=50;ExcessHet=0;FS=0;InbreedingCoeff=0.7646;MLEAC=10;MLEAF=0.556;MQ=60;QD=33.72;SOR=2.4	GT:AD:DP:GQ:PL	1/1:0,7:7:21:218,21,0	4	5	0	1
chr21	45987511	45987511	G	A	exonic	COL6A1	.	nonsynonymous SNV	COL6A1:NM_001848:exon7:c.G751A:p.E251K	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	267479	Collagen_6-related_myopathy|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.680	0.408327497389	0.0002	.	0.0002	0	0	0	0	0.0001	0.0011	0.0009	0.0001488	23	154602	rs145849970	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	2.987e-05	2.236e-05	3.826e-05	2.519e-05	1.913e-05	0	0.0002	0.0004	0.0012	0.0001	0.0001	7.709e-05	0.0001	0.0008	6.507e-05	5.319e-05	0.0003	0.0002	4.812e-05	0	0	0	0	0	0	0.0001	0	0.0008	0.258	0.16683	T	0.365	0.16914	T	0.999	0.77913	D	0.881	0.62579	P	0.000974	0.40836	D	0.205855	0.99999	0.58761	D	1.7	0.43825	L	-3.37	0.94114	D	-1.79	0.42191	N	0.277	0.31365	0.385	0.88875	D	0.764	0.91956	D	10	0.0976879	0.17611	T	0.408327	0.93544	D	0.680	0.88252	.	.	0.832155817886	0.83056	0.838032652940489	0.83763	0.249061306982	0.27473	0.833469033241	0.87094	D	0.285671	0.65846	T	-0.0426737	0.45550	T	0.115485	0.77935	D	0.137223465590137	0.16033	T	0.89841	0.64469	D	0.22036013	0.44589	0.20740528	0.44998	0.22036013	0.44589	0.20740528	0.44997	-11.471	0.82178	D	0.3804871426567475	0.47497	0.718	0.73696	P	.;.	.;.	5.632094	0.92682	32	0.99906842677596708	0.97726	0.95019	0.63143	D	AEFDBI	0.708223	0.66270	D	0.153172536834939	0.48963	3.102089	0.130464701340641	0.46115	2.862826	0.999999999975603	0.74766	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.82	3.82	0.43153	3.425000	0.52535	11.269000	0.91340	0.618000	0.50648	0.995000	0.38783	1.000000	0.68203	0.763000	0.36255	0.0:0.0:1.0:0.0	16.067	0.80699	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	309.43	34	chr21	45987511	.	G	A	309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=379;ExcessHet=0;FS=2.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=0.24;SOR=1.296	GT:AD:DP:GQ:PL	0/1:32,15:47:99:321,0,681	9	0	1	0
chr22	26027319	26027319	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7348T:p.R2450W,MYO18B:NM_032608:exon43:c.C7345T:p.R2449W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	578584	not_provided|Klippel-Feil_anomaly-myopathy-facial_dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.632	0.293313125239	0.0042	0.00219649	0.0049	0.0014	0.0041	0.0001	0.0029	0.0067	0.0022	0.0033	0.0048835	755	154602	rs149103381	0.0057	0.0057	0.0057	0.0057	0.0065	0.0056	0.0056	0.0064	0.0064	0.0006	0.0044	0.0022	7.557e-05	0.0034	0.0029	0.0065	0.0052	0.0035	0.0045	0.0044	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0062	0.0015	0	0.0047	0.0020	0.0002	0.0034	0	0.0069	0.0066	0.0033	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000114	0.50451	D	0.000000	0.877567	0.35685	D	1.935	0.51832	L	-3.13	0.92938	D	-4.62	0.79143	D	0.704	0.70790	0.799	0.94404	D	0.805	0.93400	D	10	0.023308277	0.00606	T	0.293313	0.90637	D	0.632	0.85872	.	.	0.93149503283	0.93079	0.5363631325941575	0.53561	0.403975214382	0.41314	0.521508395672	0.41839	T	0.480227	0.80931	T	-0.0663114	0.41914	T	0.135977	0.79282	D	0.0359432094479308	0.02971	T	0.889211	0.62120	D	0.4668643	0.65098	0.41178858	0.65400	0.46537626	0.65006	0.44655162	0.67766	-6.469	0.50046	T	.	.	0.207	0.46960	B	.;.;.	.;.;.	4.662254	0.74425	26.2	0.9991325294484098	0.98238	0.86569	0.45877	D	AEFDBI	0.621542	0.60619	D	0.343025289852147	0.58371	4.009039	0.245234731715821	0.52377	3.413073	0.799939675151461	0.24168	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.17	2.9	0.32809	0.880000	0.27798	2.803000	0.34863	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.716000	0.34643	0.4518:0.5482:0.0:0.0	11.895	0.51932	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	13591.1	391	chr22	26027319	.	C	T	13591.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.33;DP=2835;ExcessHet=0.2348;FS=0.52;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.269;SOR=0.773	GT:AD:DP:GQ:PL	0/1:324,288:612:99:7029,0,7191	8	0	2	0
chr22	41177668	41177668	C	T	exonic	EP300	.	nonsynonymous SNV	EP300:NM_001362843:exon30:c.C5879T:p.P1960L,EP300:NM_001429:exon31:c.C5957T:p.P1986L	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	193837	not_provided|Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|EP300-related_disorder	MedGen:C3661900|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.530	0.0651680743862	0.0002	0.000399361	0.0001	0.0002	0	0.0008	0	9.008e-05	0	6.057e-05	0.0001164	18	154602	rs144626200	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0015	0.0014	5.974e-05	2.236e-05	0	0.0019	0	0.0003	7.644e-05	0.0001	6.956e-05	0.0001	0.0001	0.0001	0.0001	0.0017	9.149e-05	7.704e-05	0.0009	0.0007	9.634e-05	0	0	0	0.0017	0	0	8.821e-05	0.0005	0.0002	0.002	0.72154	D	0.269	0.22426	T	0.707	0.42016	P	0.07	0.27859	B	0.000187	0.48115	D	0.000000	0.999981	0.54805	D	0	0.06538	N	-1.77	0.83660	D	-2.78	0.58896	D	0.241	0.27197	-0.3337	0.74026	T	0.377	0.73460	T	10	0.06782848	0.09507	T	0.065168	0.69499	D	0.530	0.80188	.	.	0.96811254239	0.96777	0.32907522848969234	0.32820	.	.	0.598594665527	0.52705	T	0.708065	0.91650	D	-0.0735545	0.40757	T	0.0264817	0.72048	D	0.101496444469703	0.12520	T	0.874113	0.58433	D	0.192003	0.40852	0.19229583	0.42735	0.192003	0.40852	0.19229583	0.42734	-4.389	0.29408	T	0.22479075339028512	0.30362	0.158	0.35034	B	.	.	3.895206	0.56705	23.8	0.99005125967742491	0.50231	0.95720	0.65868	D	AEFDBHCI	0.374337	0.45928	N	-0.0346021781631769	0.40293	2.390393	0.0396714604461606	0.41576	2.500083	0.999999999943203	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.32	5.32	0.75377	1.732000	0.37769	7.662000	0.64290	0.599000	0.40250	0.781000	0.29485	1.000000	0.68203	0.282000	0.24066	0.0:1.0:0.0:0.0	19.005	0.92823	255	0.89985	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1574.43	35	chr22	41177668	.	C	T	1574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=449;ExcessHet=0;FS=2.271;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.371;SOR=0.816	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1586,0,1547	9	0	1	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E	.	425	173	454	470	0	1394	0.801149	.	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.568983	0.565657	0.542120	0.570175	0.550000	0.517241	0.573171	0.662879	0.65	24424.0	126	chr22	43946236	.	A	G	24424.0	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.861;DP=1517;ExcessHet=7.0302;FS=0.54;InbreedingCoeff=-0.5385;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=0.218;SOR=0.757	GT:AD:DP:GQ:PL	1/1:0,153:153:99:4312,458,0	0	3	7	0
chrX	6533918	6533918	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G388C:p.V130L	.	544	964	11	0	3	14	0.00567303	.	.	.	1318923	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.00113823230889	.	.	4.171e-05	0	0.0001	0.0002	0	2.631e-05	0	0	0.0001537	4	26028	rs780354662	0.0006	0.0027	0.0008	0.0001	0.0045	0.0006	0.0005	0.0039	0.0036	0.0002	0.0045	0.0008	0.0003	0.0010	0.0008	0.0005	0.0009	0.0004	0.0027	0.0049	0.0035	0	0.0095	0.0024	0.0023	0.0076	0.0070	0.0020	0.0101	0.0095	0.0014	0.0007	0.0011	0	0.0023	0.0047	0.0012	0.49	0.07994	T	0.409	0.14588	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.23600	N	0.755	0.19153	N	2.2	0.18570	T	-1.11	0.28703	N	0.043	0.01577	-0.9677	0.37673	T	0.018	0.07423	T	8	0.0094252825	0.00213	T	0.001138	0.01410	T	0.007	0.00512	0.176	0.08257	0.043077524339	0.03247	0.0029763199075203426	0.00277	0.262585590398	0.28824	0.465717852116	0.34094	T	0.005635	0.05080	T	-0.812437	0.00006	T	-1.0337	0.00085	T	0.006969164911672	0.00079	T	0.438156	0.12052	T	0.095408544	0.22454	0.074618824	0.16342	0.095408544	0.22454	0.074618824	0.16342	-7.177	0.55316	T	.	.	0.159	0.35204	B	.	.	-0.490809	0.01897	0.157	0.28057428731072176	0.01423	0.00230	0.01288	N	AEFI	.	.	.	.	.	.	.	.	.	1.32790682951601E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.896000	0.01696	-1.954000	0.04440	-1.658000	0.00817	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.624	0.22011	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	299.43	172	chrX	6533918	.	C	G	299.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.874;DP=507;ExcessHet=0;FS=25.233;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.65;MQRankSum=-3.588;QD=21.39;ReadPosRankSum=-3.004;SOR=2.199	GT:AD:DP:GQ:PL	0/1:8,6:14:99:311,0,685	9	0	1	0
chrX	49219809	49219809	A	-	intronic	CACNA1F	.	.	.	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	88	1424	4	4	2	14	0.0041958	.	.	.	192658	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0100	0.0333775	0.0112	0.0049	0.0962	0.1321	0.0069	0.0056	0.0694	0.0027	0.0041878	109	26028	rs375791434	0.0067	0.0073	0.0064	0.0077	0.0808	0.0066	0.0065	0.0779	0.0768	0.0027	0.0770	0.0065	0.0808	0.0041	0.0031	0.0007	0.0185	0.0042	0.0135	0.0146	0.0134	0.0138	0.0944	0.0129	0.0127	0.0859	0.0826	0.0049	0	0.0828	0.0069	0.0944	0.0051	0	0.0007	0.0359	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1569.08	34	chrX	49219808	.	CA	C	1569.08	.	AC=2;AF=0.1;AN=20;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.61;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1592,159,0	9	1	0	0