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	NSWES979	WT	HH	HZ	NC
chr1	7830093	7830093	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289862:exon19:c.C3146T:p.T1049I,PER3:NM_001289864:exon19:c.C2186T:p.T729I,PER3:NM_001377275:exon19:c.C3146T:p.T1049I,PER3:NM_001377276:exon19:c.C3122T:p.T1041I,PER3:NM_016831:exon19:c.C3119T:p.T1040I,PER3:NM_001289861:exon20:c.C3089T:p.T1030I,PER3:NM_001289863:exon20:c.C3068T:p.T1023I	.	411	1091	19	1	0	21	0.00953246	.	.	.	707524	not_specified|PER3-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00160147600204	0.0018	0.000399361	0.0015	0.0005	0.0021	0	0	0.0021	0	0.0008	0.0015847	245	154602	rs144178755	0.0013	0.0013	0.0012	0.0013	0.0130	0.0012	0.0012	0.0107	0.0098	0.0008	0.0019	0.0094	0	3.745e-05	0.0130	0.0011	0.0021	0.0009	0.0014	0.0014	0.0014	0.0014	0.0021	0.0012	0.0012	0.0015	0.0013	0.0004	0	0.0021	0.0092	0	0.0002	0.0306	0.0016	0.0038	0.0012	0.02	0.54683	D	0.304	0.24767	T	0.248	0.31148	B	0.067	0.27542	B	0.022261	0.01569	U	7.092960	1	0.08975	N	1.24	0.30952	L	2.77	0.11407	T	-0.6	0.17834	N	0.095	0.11626	-0.9953	0.31218	T	0.022	0.09330	T	10	0.004548222	0.00094	T	0.001601	0.02574	T	0.032	0.07718	.	.	0.381409048467	0.37754	0.24206851073120256	0.24120	0.0997312939476	0.11260	0.417741298676	0.27527	T	0.029279	0.29898	T	-0.586987	0.00175	T	-0.6218	0.11044	T	0.00156240985269351	0.00016	T	0.307569	0.07018	T	0.03576928	0.04273	0.033640638	0.02292	0.030466089	0.02714	0.030782755	0.01578	-6.469	0.50046	T	0.3682492051760109	0.46404	0.176	0.39494	B	.;.;.;.	.;.;.;.	0.685992	0.10548	7.255	0.97017626575826488	0.32010	0.00109	0.00694	N	AEFDGBI	0.024890	0.01614	N	-0.947244314250726	0.09754	0.4630638	-1.06171073015392	0.08464	0.4163116	0.99990284776284	0.45458	0.706548	0.73137	0	0.541556	0.11502	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	1.61	0.359	0.15324	0.092000	0.14905	0.190000	0.15733	0.304000	0.19002	0.020000	0.19661	0.000000	0.08366	0.018000	0.11154	0.0:0.6047:0.0:0.3953	2.879	0.05294	534	0.73357	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013092	0.020202	0.016304	0.023392	0.000000	0.017241	0.000000	0.015152	0.05263	8136.83	130	chr1	7830093	.	C	T	8136.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.2;DP=2287;ExcessHet=0.119;FS=1.773;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.06;SOR=0.582	GT:AD:DP:GQ:PL	0/1:152,137:289:99:3767,0,4264	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	33620.1	156	chr1	37708311	.	TTTC	T	33620.1	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.21;DP=1786;ExcessHet=0.5777;FS=1.129;InbreedingCoeff=0.1044;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=24.29;ReadPosRankSum=0.002;SOR=0.787	GT:AD:DP:GQ:PL	0/1:87,63:150:99:2366,0,3384	10	2	7	0
chr1	40089411	40089411	G	A	exonic	PPT1	.	nonsynonymous SNV	PPT1:NM_001142604:exon2:c.C226T:p.R76C,PPT1:NM_000310:exon5:c.C535T:p.R179C,PPT1:NM_001363695:exon5:c.C535T:p.R179C	Ceroid lipofuscinosis, neuronal, 1, Autosomal recessive	0	1513	9	0	0	9	0.0029654	0.0012	0.052	YES	201112	Inborn_genetic_diseases|not_specified|not_provided|Neuronal_ceroid_lipofuscinosis_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009744,MedGen:C1850451,OMIM:256730,Orphanet:228329	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.476	0.115381275146	.	0.000199681	0.0004	0	8.64e-05	0	0	2.997e-05	0.0011	0.0028	0.0003363	52	154602	rs560471003	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	8.971e-05	2.236e-05	0	0	0	0.0003	3.331e-05	0.0003	0.0026	9.211e-05	9.194e-05	3.859e-05	0.0001	0.0019	5.534e-05	4.37e-05	0.0010	0.0007	4.824e-05	0	0	0	0	0	0	4.412e-05	0	0.0019	0.105	0.29823	T	0.114	0.36765	T	0.004	0.27501	B	0.013	0.23361	B	0.000044	0.53742	N	0.161600	0.998451	0.48716	D	2.775	0.80997	M	-4.47	0.97583	D	-2.06	0.47175	N	0.401	0.44187	0.445	0.89763	D	0.831	0.94334	D	10	0.034352362	0.01641	T	0.115381	0.79455	D	0.476	0.76816	0.728	0.86198	0.924967611476	0.92420	0.40286737174546733	0.40202	0.169627693308	0.19127	0.321532934904	0.13654	T	0.915705	0.98450	D	-0.169241	0.25350	T	-0.0211165	0.68956	D	0.133909633272528	0.15738	T	0.925307	0.74113	D	0.20373228	0.42461	0.122635044	0.29579	0.22203802	0.44794	0.14668322	0.34740	-7.481	0.63344	T	.	.	0.211	0.46859	B	.;.;.;.;.;.	.;.;.;.;.;.	3.623372	0.51284	23.1	0.98835853143225871	0.47035	0.97596	0.75790	D	AEFGBI	0.741440	0.68537	D	-0.0665121054854407	0.38867	2.283142	0.0182757777617196	0.40565	2.422851	0.80652638986651	0.24279	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	2.91	0.32903	4.986000	0.63577	4.352000	0.43091	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.1733:0.1617:0.6649:0.0	5.764	0.17482	349	0.85513	.;.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1404.33	42	chr1	40089411	.	G	A	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=804;ExcessHet=0;FS=3.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.313;SOR=1.044	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1418,0,1155	18	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	102349.0	197	chr1	55057360	.	A	G	102349.0	.	AC=38;AF=1;AN=38;BaseQRankSum=2;DP=3350;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=31.41;ReadPosRankSum=1.31;SOR=0.251	GT:AD:DP:GQ:PL	1/1:0,151:151:99:4724,453,0	0	19	0	0
chr1	92478757	92478757	-	AGAGAGAG	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	283368	Severe_congenital_neutropenia|not_specified|not_provided|Neutropenia,_severe_congenital,_2,_autosomal_dominant	MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0327	0.0359	0.0225	0.0439	0.0269	0.0289	0.0242	0.0481	0.0189907	2936	154602	rs371078453	0.0531	0.0615	0.0531	0.0531	0.0744	0.0528	0.0527	0.0720	0.0711	0.0667	0.0529	0.0729	0.0744	0.0562	0.0574	0.0506	0.0558	0.0621	0.0643	0.0678	0.0644	0.0642	0.1236	0.0632	0.0627	0.1151	0.1117	0.0807	0.0320	0.0678	0.0861	0.1236	0.0495	0.0699	0.0516	0.0513	0.0704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	10952.6	16	chr1	92478757	.	C	CAGAGAGAG	10952.6	.	AC=3;AF=0.083;AN=36;BaseQRankSum=0.609;DP=877;ExcessHet=0.3441;FS=1.223;InbreedingCoeff=-0.0208;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=32.6;ReadPosRankSum=0.395;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,12:35:99:.:.:982,493,459:.	15	0	3	1
chr1	119140608	119140608	A	C	exonic	WARS2	.	nonsynonymous SNV	WARS2:NM_001378228:exon1:c.T37G:p.W13G,WARS2:NM_001378229:exon1:c.T37G:p.W13G,WARS2:NM_001378231:exon1:c.T37G:p.W13G,WARS2:NM_015836:exon1:c.T37G:p.W13G,WARS2:NM_201263:exon1:c.T37G:p.W13G	.	423	1084	15	0	0	15	0.00687128	.	.	YES	434543	not_provided|Parkinsonism-dystonia_3,_childhood-onset|Inborn_genetic_diseases|WARS2-related_disorder|Neurodevelopmental_disorder,_mitochondrial,_with_abnormal_movements_and_lactic_acidosis,_with_or_without_seizures|Neurodevelopmental_disorder	MedGen:C3661900|MONDO:MONDO:0030676,MedGen:C5676913,OMIM:619738|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0060578,MedGen:C4540192,OMIM:617710,Orphanet:572798|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.00555365232878	0.0027	0.00199681	0.0034	0.0006	0.0044	0	0.0006	0.0044	0.0011	0.0034	0.0033441	517	154602	rs139548132	0.0036	0.0036	0.0036	0.0037	0.0078	0.0036	0.0035	0.0060	0.0054	0.0005	0.0042	0.0012	0	0.0009	0.0078	0.0040	0.0040	0.0037	0.0031	0.0031	0.0032	0.0030	0.0049	0.0029	0.0028	0.0045	0.0043	0.0008	0.0044	0.0042	0.0023	0	0.0005	0.0068	0.0049	0.0047	0.0039	0.081	0.36113	T	0.016	0.60972	D	0.001	0.07471	B	0.001	0.04355	B	0.097744	0.20013	N	0.534882	0.96309	0.26039	N	2.14	0.59869	M	0.99	0.41750	T	-0.74	0.21860	N	0.427	0.46649	-1.0499	0.14425	T	0.028	0.12190	T	10	0.0043417513	0.00088	T	0.005554	0.14319	T	0.121	0.33580	.	.	0.251679625132	0.24793	0.6198794439575772	0.61920	0.740897167152	0.63259	0.338066577911	0.16147	T	0.114069	0.43160	T	-0.450553	0.01121	T	-0.417353	0.31380	T	0.0366873790085819	0.03100	T	0.632737	0.24712	T	0.1685499	0.37319	0.098846555	0.23579	0.07218971	0.16040	0.108971946	0.26256	-4.802	0.34615	T	.	.	0.109	0.21541	B	.;.	.;.	1.890003	0.24007	16.23	0.89472259208166782	0.18826	0.11826	0.16886	N	ALL	0.118447	0.23160	N	-0.553494044451047	0.20375	1.073573	-0.457345149565875	0.23340	1.272343	0.999999999999984	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	6.04	0.718	0.17356	-0.145000	0.10248	2.378000	0.32469	0.756000	0.94297	0.473000	0.26745	1.000000	0.68203	0.865000	0.41091	0.3592:0.1819:0.1071:0.3518	0.681	0.00819	814	0.42100	.;.	.	.	.	.	.	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	0.007049	0.000000	0.006793	0.002924	0.000000	0.000000	0.024390	0.003788	0.07895	3681.77	99	chr1	119140608	.	A	C	3681.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.973;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.12;ReadPosRankSum=-1.525;SOR=0.708	GT:AD:DP:GQ:PL	0/1:45,39:84:99:950,0,1204	17	1	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	18811.2	56	chr1	158668075	.	GAAA	G	18811.2	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.476;DP=1409;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.52;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.025;SOR=0.659	GT:AD:DP:GQ:PL	1/0:4,42:74:99:2231,472,732	10	0	9	0
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18811.2	56	chr1	158668075	.	GA	G	18811.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.476;DP=1409;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.025;SOR=0.659	GT:AD:DP:GQ:PL	0/1:4,24:74:99:2231,1459,1364	8	1	10	0
chr1	161214269	161214269	-	TG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTG;NM_001377300:c.*328_*329insTG;NM_001377301:c.*328_*329insTG;NM_004550:c.*76_*77insTG;NM_001166159:c.*328_*329insTG;NM_001377299:c.*76_*77insTG;NM_001377302:c.*119_*120insTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277997	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs10629771	0.1891	0.2001	0.1864	0.1915	0.3431	0.1882	0.1879	0.3377	0.3355	0.2667	0.2662	0.2049	0.3431	0.2001	0.2120	0.1597	0.2040	0.2476	0.2808	0.2843	0.2797	0.2819	0.4674	0.2785	0.2776	0.4514	0.4450	0.3792	0.1481	0.2737	0.2503	0.4674	0.2163	0.2877	0.2202	0.2911	0.3197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	9816.21	27	chr1	161214269	.	C	CTG	9816.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.259;DP=884;ExcessHet=1.8686;FS=5.863;InbreedingCoeff=-0.0857;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=0.138;SOR=1.866	GT:AD:DP:GQ:PL	0/1:15,11:28:99:263,0,418	8	0	11	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	0.4737	32470.2	115	chr1	169529737	.	T	C	32470.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.57;DP=1823;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=21.29;ReadPosRankSum=-0.598;SOR=0.71	GT:AD:DP:GQ:PL	0/1:70,63:133:99:1707,0,1654	7	6	6	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	0.3947	49275.7	126	chr1	169542517	.	T	C	49275.7	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.214;DP=2812;ExcessHet=0.0178;FS=2.037;InbreedingCoeff=0.4493;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=-0.549;SOR=0.518	GT:AD:DP:GQ:PL	0/1:114,96:210:99:2742,0,3354	9	5	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	.	.	.	.	.	.	.	.	0.6053	27495.8	67	chr1	179889309	.	G	A	27495.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.264;DP=1439;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=-0.651;SOR=0.736	GT:AD:DP:GQ:PL	1/1:0,94:94:99:2808,282,0	4	8	7	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	0.5789	54755.1	207	chr1	196690107	.	C	T	54755.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.913;DP=2557;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=59.96;MQRankSum=0;QD=23.47;ReadPosRankSum=0.71;SOR=0.683	GT:AD:DP:GQ:PL	0/1:74,70:144:99:1873,0,1983	5	8	6	0
chr1	205211450	205211450	C	T	exonic	DSTYK	.	nonsynonymous SNV	DSTYK:NM_015375:exon1:c.G86A:p.R29Q,DSTYK:NM_199462:exon1:c.G86A:p.R29Q	.	278	1240	3	1	0	5	0.00201207	.	.	.	75261	Congenital_anomalies_of_kidney_and_urinary_tract_1|not_specified|not_provided	Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.384	0.689281990408	.	0.000798722	0.0010	0	0.0004	0	0	0.0012	0.0077	0.0017	0.0005951	92	154602	rs200780796	0.0007	0.0006	0.0006	0.0007	0.0017	0.0006	0.0006	0.0015	0.0014	0.0001	0.0008	0.0089	0	0	0.0017	0.0004	0.0009	0.0017	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0006	0.0015	0.0013	9.62e-05	0	0.0021	0.0092	0	0	0	0.0005	0.0005	0.0008	0.45	0.09374	T	0.364	0.17115	T	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	1.355	0.33814	L	-1.69	0.83072	D	-0.75	0.24676	N	0.556	0.81957	0.134	0.84769	D	0.610	0.86166	D	10	0.012831062	0.00274	T	0.689282	0.97439	D	0.384	0.70112	0.406	0.43902	0.82854224837	0.82691	0.5089995500452199	0.50821	0.623705127135	0.56599	0.886880040169	0.94866	D	0.012442	0.10938	T	-0.154096	0.27674	T	-0.00138888	0.70246	D	0.210075944662094	0.20957	T	0.879112	0.59504	D	0.45025098	0.64057	0.4489708	0.67923	0.37857646	0.59214	0.38503048	0.63429	-4.119	0.25848	T	.	.	0.260	0.49451	B	.;.	.;.	4.527918	0.71055	25.6	0.99902379961303411	0.97350	0.63219	0.32021	D	ALL	0.553080	0.56448	D	0.543073019713175	0.69661	5.388825	0.556095473171162	0.71820	5.713849	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.24	5.24	0.72863	4.215000	0.58331	7.249000	0.57924	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.596	0.84648	420	0.81451	.;.	.	.	.	.	.	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	0.001014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1392.33	40	chr1	205211450	.	C	T	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=743;ExcessHet=0;FS=2.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.991;SOR=0.933	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1406,0,1314	18	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	73654.4	149	chr1	226735804	.	G	T	73654.4	.	AC=38;AF=1;AN=38;BaseQRankSum=1.84;DP=2228;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=33.85;ReadPosRankSum=1.53;SOR=0.402	GT:AD:DP:GQ:PL	1/1:0,135:135:99:4547,405,0	0	19	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7981.5	40	chr1	236897645	.	CT	C	7981.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.177;DP=1587;ExcessHet=22.3492;FS=0.549;InbreedingCoeff=-0.6784;MLEAC=18;MLEAF=0.474;MQ=59.99;MQRankSum=0;QD=7.76;ReadPosRankSum=0.087;SOR=0.638	GT:AD:DP:GQ:PL	0/1:35,21:60:99:402,0,672	2	2	15	0
chr2	21001551	21001551	G	A	UTR3	APOB	NM_000384:c.*179C>T	.	.	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	311	1204	5	2	0	9	0.00372362	.	.	.	284390	Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|not_provided	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs142151703	0.0048	0.0044	0.0049	0.0046	0.0091	0.0046	0.0045	0.0059	0.0048	0.0010	0.0029	0.0083	3.374e-05	0.0146	0.0091	0.0044	0.0050	0.0036	0.0037	0.0037	0.0032	0.0042	0.0041	0.0034	0.0033	0.0037	0.0036	0.0006	0	0.0030	0.0069	0	0.0156	0	0.0041	0.0033	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	6362.79	37	chr2	21001551	.	G	A	6362.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.59;DP=1083;ExcessHet=0.3672;FS=2.463;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.343;SOR=0.903	GT:AD:DP:GQ:PL	0/1:93,73:166:99:1987,0,2347	16	0	3	0
chr2	26463516	26463516	G	A	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon23:c.C3089T:p.T1030M,OTOF:NM_004802:exon24:c.C2858T:p.T953M,OTOF:NM_194323:exon24:c.C2858T:p.T953M,OTOF:NM_001287489:exon41:c.C5159T:p.T1720M,OTOF:NM_194248:exon41:c.C5159T:p.T1720M	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	228942	Inborn_genetic_diseases|Autosomal_recessive_nonsyndromic_hearing_loss_9|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.553	0.191023354009	.	0.000998403	0.0009	0	0	0	0	0.0001	0.0022	0.0047	0.0004851	75	154602	rs375712326	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0037	0.0035	0	9.074e-05	3.853e-05	2.529e-05	1.893e-05	0.0017	9.19e-05	0.0004	0.0040	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	2.405e-05	0	0	0	0.0002	0	0	0.0001	0.0005	0.0033	0.001	0.78490	D	0.001	0.83351	D	0.959	0.65571	D	0.707	0.54387	P	0.000000	0.84330	D	0.049718	0.999861	0.50061	D	0.69	0.16971	N	-2.09	0.86077	D	-1.97	0.45587	N	0.51	0.54147	0.378	0.88772	D	0.627	0.86891	D	10	0.013700038	0.00290	T	0.191023	0.86159	D	0.553	0.81544	.	.	0.979867883203	0.97964	0.6465091956220339	0.64585	0.434749923973	0.43605	0.582451164722	0.50430	T	0.232625	0.59923	T	-0.259339	0.12978	T	-0.14772	0.59444	T	0.0971321698461335	0.12038	T	0.949505	0.86724	D	0.3141298	0.54141	0.37541085	0.62685	0.26669618	0.49740	0.41974437	0.65959	-6.309	0.48793	T	0.1227720352436202	0.11807	0.070	0.04477	B	.;.;.;.;.;.	.;.;.;.;.;.	5.319129	0.89281	29.9	0.99918175233795203	0.98586	0.98220	0.80657	D	AEFBI	0.938769	0.93843	D	0.570993097284124	0.71370	5.64043	0.615567534571736	0.76071	6.423784	0.999999999999959	0.74766	0.600919	0.35232	0	0.588015	0.36545	0	0.640751	0.46059	0	0.562822	0.20929	0	.	.	5.11	5.11	0.69188	9.942000	0.98926	11.764000	0.95697	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.114	0.89476	416	0.81733	.;.;.;.;.;.	.	.	.	.	.	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	0.005040	0.005051	0.001359	0.002924	0.000000	0.025862	0.000000	0.007576	0.02632	964.33	39	chr2	26463516	.	G	A	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.322;DP=718;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.29;SOR=0.853	GT:AD:DP:GQ:PL	0/1:45,40:85:99:978,0,1108	18	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	0.7105	59601.6	170	chr2	44320435	.	G	A	59601.6	.	AC=27;AF=0.711;AN=38;BaseQRankSum=-1.741;DP=2554;ExcessHet=0.5777;FS=2.192;InbreedingCoeff=0.1044;MLEAC=27;MLEAF=0.711;MQ=60;MQRankSum=0;QD=24.75;ReadPosRankSum=-0.248;SOR=0.901	GT:AD:DP:GQ:PL	0/1:60,78:138:99:2129,0,1687	2	10	7	0
chr2	48713934	48713934	A	-	intronic	LHCGR;STON1-GTF2A1L	.	.	.	.	8	920	487	107	0	701	0.275876	.	.	.	45133	Gonadotropin-independent_familial_sexual_precocity|not_provided	MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1143	0.148762	.	.	.	.	.	.	.	.	0.0035252	545	154602	rs111834744	0.1024	0.0983	0.0993	0.1052	0.2237	0.1019	0.1017	0.2130	0.2087	0.1692	0.1756	0.1510	0.1562	0.1144	0.2237	0.0811	0.1200	0.1942	0.1216	0.1219	0.1175	0.1258	0.1888	0.1201	0.1195	0.1786	0.1745	0.1664	0.0209	0.1489	0.1473	0.1324	0.1139	0.2313	0.0830	0.1300	0.1888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	10965.2	34	chr2	48713933	.	CA	C	10965.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.005;DP=1010;ExcessHet=0.6689;FS=0.538;InbreedingCoeff=0.05;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=18.94;ReadPosRankSum=-0.101;SOR=0.61	GT:AD:DP:GQ:PL	0/1:39,33:72:99:1062,0,1311	12	1	6	0
chr2	61842347	61842347	G	A	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_001201543:exon2:c.C197T:p.T66I,FAM161A:NM_032180:exon2:c.C197T:p.T66I	Retinitis pigmentosa 28	2	1463	52	5	0	62	0.0207497	.	.	.	177215	Retinitis_pigmentosa_28|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:CN169374|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	.	.	.	.	.	.	.	.	0.014	.	0.0046	0.00259585	0.0071	0.0006	0.0059	0.0008	0.0012	0.0085	0.0114	0.0095	0.0031953	494	154602	rs145199539	0.0046	0.0046	0.0043	0.0049	0.0102	0.0045	0.0045	0.0091	0.0089	0.0007	0.0027	0.0112	5.466e-05	0.0004	0.0102	0.0045	0.0061	0.0097	0.0040	0.0040	0.0039	0.0041	0.0101	0.0037	0.0036	0.0079	0.0071	0.0009	0.0011	0.0031	0.0135	0	0.0005	0.0374	0.0058	0.0066	0.0101	0.019	0.50132	D	0.062	0.45318	T	0.011	0.44504	B	0.008	0.37734	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.68	0.24285	T	-2.18	0.49187	N	0.078	0.05287	-1.0619	0.11288	T	0.022	0.09375	T	9	0.0030406117	0.00050	T	.	.	.	0.014	0.01968	.	.	0.363751660372	0.35992	0.14157861444279105	0.14080	0.0714086533322	0.07995	0.338148593903	0.16161	T	0.002975	0.02370	T	-0.530655	0.00381	T	-0.525631	0.19726	T	0.00501362561801803	0.00054	T	0.643236	0.25495	T	0.068116926	0.14811	0.09173052	0.21581	0.07244453	0.16115	0.099932946	0.23875	-3.236	0.12926	T	0.2690281736431292	0.36221	0.118	0.30868	B	.;.	.;.	1.544181	0.19798	14.44	0.98790717046779686	0.46285	0.36536	0.25555	N	AEFBI	0.076526	0.15397	N	-0.372894268626194	0.26438	1.442932	-0.288800390096853	0.28466	1.587427	2.3214731630198E-4	0.06095	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.43	2.64	0.30504	1.342000	0.33524	0.686000	0.20722	0.676000	0.76740	0.076000	0.22236	0.984000	0.30665	0.952000	0.50033	0.2517:0.0:0.5967:0.1516	4.634	0.11902	260	0.89800	.;.	.	.	.	.	.	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	0.008665	0.005102	0.002747	0.000000	0.000000	0.017857	0.031056	0.003817	0.07895	2425.79	67	chr2	61842347	.	G	A	2425.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.545;DP=776;ExcessHet=0.3672;FS=1.17;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.192;SOR=0.582	GT:AD:DP:GQ:PL	0/1:35,33:68:99:871,0,881	16	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	14153.8	45	chr2	69326243	.	GA	G	14153.8	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.541;DP=1148;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1634;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.436;SOR=0.712	GT:AD:DP:GQ:PL	0/1:26,31:57:99:619,0,514	4	7	8	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	0.07895	5306.79	33	chr2	70959974	.	G	A	5306.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.39;DP=990;ExcessHet=0.3672;FS=3.189;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.057;SOR=0.899	GT:AD:DP:GQ:PL	0/1:61,71:132:99:1950,0,1406	16	0	3	0
chr2	111898795	111898795	A	T	exonic	MERTK	.	nonsynonymous SNV	MERTK:NM_006343:exon1:c.A60T:p.R20S	Retinitis pigmentosa 38, Autosomal recessive	3	1384	130	5	0	140	0.0481431	0.0881	0.37	YES	101271	not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_38|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0013469,MedGen:C3151228,OMIM:613862,Orphanet:791|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.076	.	0.0351	0.0173722	0.0547	0.0106	0.0446	0	0.0533	0.0823	0.0814	0.0175	0.0004226	11	26028	rs35898499	0.0414	0.0413	0.0416	0.0413	0.0743	0.0411	0.0410	0.0685	0.0662	0.0072	0.0263	0.1227	7.749e-05	0.0291	0.0743	0.0448	0.0454	0.0147	0.0332	0.0332	0.0349	0.0313	0.0495	0.0324	0.0321	0.0481	0.0475	0.0082	0.0559	0.0272	0.1168	0.0006	0.0275	0.0918	0.0495	0.0393	0.0139	0.166	0.23183	T	0.563	0.09022	T	0.009	0.15093	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	-0.84	0.74265	T	-0.28	0.11547	N	0.077	0.10769	-1.0596	0.11855	T	0.034	0.14509	T	9	0.0017398	0.00022	T	.	.	.	0.076	0.22200	0.263	0.20788	.	.	0.21918939670006904	0.21834	0.149256190456	0.16829	0.403281629086	0.25526	T	0.084614	0.37317	T	-0.495227	0.00608	T	-0.448366	0.27878	T	0.00270378042857692	0.00028	T	0.310469	0.06031	T	0.06409369	0.13562	0.08513254	0.19634	0.10521485	0.24875	0.081631504	0.18567	-2.741	0.07654	T	.	.	0.124	0.26200	B	.;.	.;.	1.595137	0.20400	14.73	0.7788550026829324	0.12064	0.56512	0.30136	D	AEFDBHCIJ	0.087493	0.17741	N	-0.75689593087658	0.14446	0.7196954	-0.687233178443102	0.17280	0.9180937	0.999999522955927	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	3.57	2.34	0.28071	0.757000	0.26098	1.960000	0.29933	0.683000	0.82448	0.712000	0.28742	0.984000	0.30665	0.036000	0.13842	0.8402:0.0:0.1598:0.0	4.999	0.13601	750	0.51762	.;.	MERTK|TMEM87B|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|TMEM87B|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|TMEM87B|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Kidney_Cortex|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood	MERTK|MERTK	Esophagus_Gastroesophageal_Junction|Stomach	rs35898499	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	0.076176	0.069149	0.086066	0.094118	0.222222	0.122807	0.062893	0.034091	0.07895	1687.79	37	chr2	111898795	.	A	T	1687.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.215;DP=681;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.945;SOR=0.733	GT:AD:DP:GQ:PL	0/1:21,25:46:99:631,0,533	16	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	.	.	.	.	.	.	.	.	0.8	1517.02	1	chr2	113062899	.	T	C	1517.02	.	AC=24;AF=0.8;AN=30;DP=56;ExcessHet=0;FS=0;InbreedingCoeff=0.5615;MLEAC=28;MLEAF=0.933;MQ=60;QD=27.69;SOR=2.419	GT:AD:DP:GQ:PL	1/1:0,2:2:6:83,6,0	3	12	0	4
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1089	122	46	265	0	576	0.702439	.	.	.	283793	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	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.64154	16698	26028	rs1800930	0.6402	0.5794	0.6263	0.6522	0.7949	0.6378	0.6368	0.7880	0.7851	0.7003	0.6800	0.6607	0.7105	0.5871	0.7339	0.5921	0.6385	0.7949	0.6528	0.6527	0.6496	0.6560	0.8014	0.6494	0.6480	0.7803	0.7717	0.7079	0.7577	0.6634	0.6885	0.7078	0.6301	0.7381	0.6008	0.6883	0.8014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.8182	1098.78	1	chr2	113062953	.	A	G	1098.78	.	AC=18;AF=0.818;AN=22;DP=43;ExcessHet=0;FS=0;InbreedingCoeff=0.5186;MLEAC=25;MLEAF=1;MQ=60;QD=28.07;SOR=1.942	GT:AD:DP:GQ:PL	1/1:0,3:3:9:124,9,0	2	9	0	8
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	1153	102	28	239	0	506	0.712676	.	.	.	283612	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.8	823.76	2	chr2	113063003	.	C	A	823.76	.	AC=16;AF=0.8;AN=20;DP=30;ExcessHet=0;FS=0;InbreedingCoeff=0.4692;MLEAC=23;MLEAF=1;MQ=60;QD=32.51;SOR=0.99	GT:AD:DP:GQ:PL	1/1:0,4:4:12:160,12,0	2	8	0	9
chr2	113063078	113063078	A	T	UTR3	IL36RN	NM_173170:c.*401A>T;NM_012275:c.*401A>T	.	.	Psoriasis 14, pustular, Autosomal recessive	1209	73	21	219	0	459	0.758678	.	.	.	282259	not_provided|Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108032	16702	154602	rs3180234	0.6596	0.4268	0.6382	0.6777	0.8001	0.6565	0.6553	0.7925	0.7894	0.6759	0.6937	0.6753	0.7131	0.6192	0.7623	0.6046	0.6542	0.8001	0.6407	0.6407	0.6374	0.6442	0.8010	0.6373	0.6359	0.7799	0.7713	0.6662	0.7582	0.6591	0.6886	0.7087	0.6294	0.7347	0.6006	0.6796	0.8010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.75	669.42	1	chr2	113063078	.	A	T	669.42	.	AC=15;AF=0.75;AN=20;BaseQRankSum=0;DP=32;ExcessHet=0;FS=0;InbreedingCoeff=0.3628;MLEAC=22;MLEAF=1;MQ=60;MQRankSum=0;QD=29.11;ReadPosRankSum=0;SOR=0.99	GT:AD:DP:GQ:PL	1/1:0,3:3:9:124,9,0	2	7	1	9
chr2	113063095	113063095	A	G	UTR3	IL36RN	NM_173170:c.*418A>G;NM_012275:c.*418A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1204	76	20	222	0	464	0.753247	.	.	.	283794	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108239	16734	154602	rs3180235	0.6666	0.4191	0.6459	0.6842	0.8049	0.6634	0.6621	0.7971	0.7939	0.7199	0.7068	0.6777	0.7170	0.6252	0.7704	0.6115	0.6626	0.8049	0.6525	0.6524	0.6495	0.6557	0.8016	0.6491	0.6477	0.7805	0.7719	0.7072	0.7599	0.6639	0.6885	0.7079	0.6290	0.7381	0.6007	0.6878	0.8016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.75	734.9	1	chr2	113063095	.	A	G	734.9	.	AC=15;AF=0.75;AN=20;BaseQRankSum=0;DP=33;ExcessHet=0;FS=0;InbreedingCoeff=0.3785;MLEAC=22;MLEAF=1;MQ=60;MQRankSum=0;QD=29.4;ReadPosRankSum=0.341;SOR=0.963	GT:AD:DP:GQ:PL	1/1:0,3:3:9:123,9,0	2	7	1	9
chr2	135787999	135787999	C	G	UTR3	LCT	NM_002299:c.*325G>C	.	.	Lactase deficiency, congenital, Autosomal recessive	863	649	7	3	0	13	0.00991609	.	.	.	282503	Congenital_lactase_deficiency|Lactose_intolerance	MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690|Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0167732	.	.	.	.	.	.	.	.	0.0028137	435	154602	rs62170085	0.0172	0.0121	0.0154	0.0188	0.0344	0.0168	0.0166	0.0312	0.0299	0.0032	0.0344	0.0389	0.0031	0.0197	0.0339	0.0131	0.0177	0.0305	0.0135	0.0135	0.0123	0.0147	0.0312	0.0130	0.0128	0.0271	0.0255	0.0033	0	0.0282	0.0392	0.0021	0.0213	0.0170	0.0136	0.0142	0.0312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	138.42	5	chr2	135787999	.	C	G	138.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.781;DP=223;ExcessHet=0;FS=3.424;InbreedingCoeff=-0.0329;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.621;SOR=0.055	GT:AD:DP:GQ:PL	0/1:6,6:12:99:152,0,207	18	0	1	0
chr2	151512812	151512812	A	G	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon133:c.T18128C:p.M6043T,NEB:NM_001164507:exon161:c.T23267C:p.M7756T,NEB:NM_001164508:exon161:c.T23267C:p.M7756T,NEB:NM_001271208:exon162:c.T23372C:p.M7791T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	177067	not_provided|not_specified|Nemaline_myopathy_2|NEB-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.088	0.0265597914517	0.0015	0.000199681	0.0018	0.0002	0.0004	0	0	0.0026	0.0037	0.0017	0.0014424	223	154602	rs201767727	0.0015	0.0015	0.0014	0.0015	0.0042	0.0014	0.0014	0.0029	0.0024	0.0001	0.0006	0.0162	0	0.0002	0.0042	0.0013	0.0020	0.0014	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0009	0.0003	0	0.0003	0.0187	0	9.425e-05	0.0102	0.0011	0.0005	0.0014	0.268	0.16144	T	0.114	0.44905	T	0.996	0.68779	D	0.93	0.66466	D	0.000000	0.84330	D	0.085543	0.997174	0.43684	D	1.035	0.25616	L	0.9	0.45248	T	-2.57	0.55501	D	0.665	0.91276	-0.8362	0.52898	T	0.209	0.56812	T	10	0.0072886944	0.00166	T	0.02656	0.49457	D	0.219	0.51417	.	.	0.54294064856	0.53946	0.10906890648319095	0.10835	0.325890546285	0.34736	0.733500659466	0.72018	T	0.043184	0.44593	T	-0.255524	0.13429	T	-0.169898	0.57453	T	0.0353002263818053	0.02860	T	0.850515	0.68393	D	0.46223137	0.64809	0.41840926	0.65866	0.42844704	0.62651	0.43272364	0.66849	-2.703	0.09632	T	.	.	0.272	0.50572	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.649817	0.51790	23.1	0.94645462078591625	0.25246	0.95120	0.63511	D	AEFBI	0.755140	0.69480	D	0.317342865222644	0.57037	3.869821	0.430055078599464	0.63447	4.578478	0.976110644675405	0.29695	0.638212	0.43195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.72	5.72	0.89380	5.192000	0.64953	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.299	0.82622	856	0.34373	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.003525	0.005051	0.000000	0.008772	0.000000	0.008621	0.003049	0.000000	0.02632	1540.33	34	chr2	151512812	.	A	G	1540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.123;DP=782;ExcessHet=0;FS=6.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.379;SOR=0.626	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1554,0,1922	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	5687.97	23	chr2	151546001	.	T	TA	5687.97	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.343;DP=1231;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.185;SOR=0.727	GT:AD:DP:GQ:PL	0/1:17,9:37:62:170,0,309	3	0	16	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	.	.	.	.	.	.	.	.	0.1667	1057.71	33	chr2	151680729	.	C	T	1057.71	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.359;DP=1767;ExcessHet=2.0135;FS=112.907;InbreedingCoeff=-0.2011;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=1.16;SOR=10.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,31:133:99:.:.:330,0,1976:.	12	0	6	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	8839.14	16	chr2	171448665	.	C	CT	8839.14	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.098;DP=746;ExcessHet=0.6984;FS=5.396;InbreedingCoeff=0.0952;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=0.17;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,20:41:99:0|1:171448665_C_CT:768,0,781:171448665	8	3	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	10652.2	16	chr2	171448667	.	C	T	10652.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.655;DP=763;ExcessHet=0.6984;FS=3.571;InbreedingCoeff=0.0952;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=0.719;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,20:41:99:0|1:171448665_C_CT:768,0,781:171448665	8	3	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	11519.8	34	chr2	171458134	.	AT	A	11519.8	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.019;DP=1232;ExcessHet=6.1876;FS=1.363;InbreedingCoeff=-0.2955;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.039;SOR=0.548	GT:AD:DP:GQ:PL	0/1:37,42:79:99:948,0,786	7	2	10	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	1315.81	90	chr2	178535858	.	GA	G	1315.81	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.521;DP=2933;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.587;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=-0.227;SOR=0.718	GT:AD:DP:GQ:PL	0/1:121,25:161:99:129,0,2712	8	0	11	0
chr2	178595768	178595768	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon123:c.C30391G:p.L10131V,TTN:NM_133432:exon124:c.C30766G:p.L10256V,TTN:NM_133437:exon124:c.C30967G:p.L10323V,TTN:NM_133378:exon244:c.C49882G:p.L16628V,TTN:NM_001256850:exon245:c.C52663G:p.L17555V,TTN:NM_001267550:exon295:c.C57586G:p.L19196V	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	0	1517	5	0	0	5	0.00164528	.	.	.	56291	not_provided|Ventricular_tachycardia|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.211	0.0220979387438	.	.	0.0003	0.0001	0.0006	0	0	0.0004	0	0	0.0001617	25	154602	rs397517630	0.0001	0.0001	0.0001	0.0001	0.0080	0.0001	0.0001	0.0062	0.0055	5.986e-05	0.0004	0	0	0	0.0080	0.0001	0.0002	0.0001	7.89e-05	7.876e-05	9.002e-05	6.726e-05	0.0002	4.499e-05	3.514e-05	5.292e-05	2.837e-05	2.408e-05	0	0.0002	0	0	0	0.0068	7.355e-05	0	0.0002	0.338	0.14743	T	.	.	.	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.999986	0.58761	D	-0.465	0.02725	N	0.59	0.53943	T	-1.93	0.47344	N	0.417	0.52029	-0.6851	0.61136	T	0.149	0.47575	T	9	0.118359536	0.22374	T	0.022098	0.44952	T	0.211	0.50185	.	.	0.476445137733	0.47274	.	.	0.465770963553	0.46000	0.688776254654	0.65530	T	.	.	.	-0.336574	0.05629	T	-0.408862	0.32357	T	0.070157282122762	0.08673	T	0.915808	0.69967	D	.	.	.	.	.	.	.	.	-1.917	0.02903	T	.	.	0.116	0.23465	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.184873	0.27852	17.60	0.95183854781613619	0.26357	0.97666	0.76269	D	AEFBI	0.877776	0.80262	D	0.414786343581126	0.62233	4.436127	0.494396100619317	0.67616	5.108191	0.997406887977956	0.35583	0.475973	0.10046	0	0.446627	0.06534	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	6.05	5.16	0.70563	5.016000	0.63806	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1368:0.0:0.8632:0.0	11.656	0.50578	418	0.81602	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.014620	0.000000	0.000000	0.003049	0.000000	0.02632	505.33	37	chr2	178595768	.	G	C	505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.716;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=-1.466;SOR=0.774	GT:AD:DP:GQ:PL	0/1:51,26:77:99:519,0,1532	18	0	1	0
chr2	178647041	178647044	TATA	-	intronic	TTN	.	.	.	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	13	40	104	7	62	180	0.59596	.	.	.	189623	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0482	0.1273	0.1042	0.0096	0.0474	0.0241	0	0.0491	0.0016235	251	154602	rs1459735441	0.0244	0.0273	0.0245	0.0244	0.0813	0.0241	0.0239	0.0771	0.0754	0.0813	0.0606	0.0341	0.0286	0.0250	0.0346	0.0212	0.0322	0.0376	0.0001	0.0008	0.0001	0.0002	0.0005	9.801e-05	8.172e-05	9.488e-05	5.662e-05	7.556e-05	0	0.0003	0	0	0.0009	0	3.086e-05	0.0010	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3532.85	5	chr2	178647040	.	GTATA	G	3532.85	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.222;DP=526;ExcessHet=22.3492;FS=1.747;InbreedingCoeff=-0.7151;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.175;SOR=0.581	GT:AD:DP:GQ:PL	0/1:17,4:29:5:103,0,742	17	0	2	0
chr2	178698917	178698917	A	-	intronic	TTN	.	.	.	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	602	811	65	11	33	120	0.050907	.	.	.	284061	Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Hypertrophic_cardiomyopathy|not_specified	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3475	0.2323	0.3611	0.3926	0.3437	0.3114	0.3652	0.4068	0.0002587	40	154602	rs368277751	0.2822	0.2893	0.2800	0.2846	0.3367	0.2814	0.2810	0.3308	0.3284	0.3185	0.3091	0.3275	0.3367	0.3028	0.2767	0.2747	0.2980	0.3072	0.0042	0.0065	0.0033	0.0052	0.0055	0.0038	0.0037	0.0042	0.0038	0.0019	0	0.0055	0.0081	0.0039	0.0128	0	0.0043	0.0037	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	292.2	18	chr2	178698916	.	TA	T	292.2	.	AC=6;AF=0.167;AN=36;BaseQRankSum=0.107;DP=437;ExcessHet=5.3738;FS=5.449;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=0.365;SOR=0.323	GT:AD:DP:GQ:PL	0/1:9,3:14:26:26,0,188	12	0	6	1
chr2	178774998	178774998	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon28:c.C6575T:p.T2192M,TTN:NM_133432:exon28:c.C6575T:p.T2192M,TTN:NM_133437:exon28:c.C6575T:p.T2192M,TTN:NM_001256850:exon29:c.C6713T:p.T2238M,TTN:NM_001267550:exon29:c.C6713T:p.T2238M,TTN:NM_133378:exon29:c.C6713T:p.T2238M,TTN:NM_133379:exon29:c.C6713T:p.T2238M	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	1	1518	2	1	0	4	0.00131579	.	.	YES	56495	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Ventricular_tachycardia|not_provided|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.00600512130116	.	.	0.0002	9.614e-05	0.0003	0	0	0.0003	0	0	0.0001488	23	154602	rs201284459	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	5.976e-05	0.0004	0	0	0	0.0017	0.0001	0.0002	8.115e-05	5.258e-05	5.254e-05	6.424e-05	4.036e-05	0.0002	2.558e-05	1.831e-05	5.291e-05	2.837e-05	2.413e-05	0	0.0002	0	0	0	0	5.881e-05	0	0	0.143	0.25355	T	1.0	0.01155	T	0.002	0.12996	B	0.002	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	3.56	0.04696	T	-1.81	0.42575	N	0.15	0.15888	-0.9321	0.43829	T	0.006	0.01944	T	9	0.017633706	0.00378	T	0.006005	0.15668	T	0.077	0.22490	.	.	0.0551355673512	0.04727	.	.	0.0870122964197	0.09816	0.221312403679	0.01387	T	.	.	.	-0.5552	0.00271	T	-0.724765	0.04569	T	0.0199940782040358	0.00700	T	0.484852	0.19565	T	.	.	.	.	.	.	.	.	-3.408	0.15164	T	.	.	0.058	0.00693	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.696875	0.35217	19.84	0.73345169560619428	0.10294	0.08777	0.14656	N	AEFGBI	0.131488	0.25044	N	-1.15273992424132	0.05735	0.2622282	-1.02004009742779	0.09344	0.4643864	0.668219105286703	0.22346	0.516011	0.20929	0	0.601575	0.49859	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.62	2.43	0.28797	2.718000	0.46904	.	.	-0.104000	0.15758	0.110000	0.22992	0.999000	0.35428	0.880000	0.42090	0.3948:0.0:0.4485:0.1567	4.165	0.09768	344	0.85734	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1551.33	33	chr2	178774998	.	G	A	1551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=775;ExcessHet=0;FS=1.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.21;SOR=0.839	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1565,0,1477	18	0	1	0
chr2	181678271	181678271	G	T	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.C590A:p.P197H	Maturity-onset diabetes of the young 6	0	1430	90	2	0	94	0.0318213	.	.	.	135209	not_specified|Maturity-onset_diabetes_of_the_young_type_6|Monogenic_diabetes|Hypoinsulinemia|not_provided	MedGen:CN169374|MONDO:MONDO:0011668,MedGen:C1853371,OMIM:606394,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human_Phenotype_Ontology:HP:0040216,MedGen:C2748055|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.211	.	0.0193	0.00958466	0.0190	0.0035	0.0229	0.0003	0.0011	0.0243	0.0209	0.0210	0.0189325	2927	154602	rs8192556	0.0224	0.0224	0.0222	0.0227	0.0394	0.0222	0.0222	0.0352	0.0335	0.0028	0.0182	0.0467	0.0002	0.0034	0.0394	0.0243	0.0235	0.0215	0.0160	0.0160	0.0172	0.0147	0.0250	0.0154	0.0152	0.0240	0.0236	0.0039	0.0011	0.0128	0.0533	0.0002	0.0031	0.0374	0.0250	0.0227	0.0193	0.034	0.44029	D	0.329	0.18617	T	0.467	0.36479	P	0.246	0.38861	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-0.16	0.65378	T	-3.57	0.68999	D	0.178	0.19190	-0.7009	0.60395	T	0.127	0.43277	T	10	0.005200088	0.00113	T	.	.	.	0.211	0.50185	.	.	.	.	0.6523947154151004	0.65175	1.42890423072	0.85769	0.706838607788	0.68135	T	0.432405	0.78019	T	-0.36366	0.03927	T	-0.271464	0.47672	T	0.0225593479104315	0.00972	T	0.911409	0.68582	D	0.43709826	0.63214	0.53251684	0.72988	0.43709826	0.63215	0.53251684	0.72988	-6.775	0.52373	T	0.4196720632099966	0.50863	0.869	0.80809	P	.	.	3.520050	0.49340	22.8	0.97725238709885853	0.35585	0.20757	0.21158	N	AEFDBHCI	0.921241	0.89443	D	0.480884192017316	0.65974	4.890575	0.588032692958553	0.74081	6.076715	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.526665	0.08891	0	.	.	6.02	6.02	0.97559	5.756000	0.68414	9.930000	0.82573	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.111	0.93299	854	0.34840	Neurogenic differentiation factor, domain of unknown function	.	.	.	.	.	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	0.029738	0.030303	0.039402	0.029240	0.050000	0.051724	0.024540	0.018939	0.1053	8430.41	41	chr2	181678271	.	G	T	8430.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.021;DP=945;ExcessHet=0.0101;FS=0.864;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=22.07;ReadPosRankSum=-0.691;SOR=0.758	GT:AD:DP:GQ:PL	0/1:71,80:151:99:2268,0,2022	16	1	2	0
chr2	216423691	216423691	G	A	intronic	SMARCAL1	.	.	.	Schimke immunoosseous dysplasia, Autosomal recessive	0	1514	6	2	0	10	0.00329164	0.0006	0.08	.	287770	SMARCAL1-related_disorder|Schimke_immuno-osseous_dysplasia	.|MONDO:MONDO:0009458,MedGen:C0877024,OMIM:242900,Orphanet:1830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.121e-05	0	0	0	0	1.499e-05	0	0.0002	3.23e-05	5	154602	rs759562755	4.121e-05	4.242e-05	2.325e-05	5.934e-05	0.0007	3.258e-05	2.931e-05	0.0002	0.0002	0	0	0	0	0	0.0007	1.717e-05	0.0002	0.0003	4.599e-05	4.597e-05	5.139e-05	4.034e-05	0.0004	2.109e-05	1.527e-05	7.285e-05	3.027e-05	0	0	6.543e-05	0	0	0	0	4.41e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	513.33	42	chr2	216423691	.	G	A	513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.248;DP=741;ExcessHet=0;FS=5.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=0.208;SOR=0.601	GT:AD:DP:GQ:PL	0/1:40,24:64:99:527,0,1042	18	0	1	0
chr2	232544900	232544900	A	G	exonic	CHRNG	.	nonsynonymous SNV	CHRNG:NM_005199:exon11:c.A1378G:p.N460D	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	0	1511	10	1	0	12	0.00395517	0.0024	0.172	.	285318	CHRNG-associated_hypo-akinesia_disorder_of_prenatal_onset|Lethal_multiple_pterygium_syndrome|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MONDO:MONDO:0100158,MedGen:CN323274|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.242	0.0511886734335	0.0002	0.000399361	0.0005	0.0002	8.688e-05	0	0	0.0002	0	0.0023	0.0003687	57	154602	rs138232636	0.0003	0.0003	0.0002	0.0004	0.0022	0.0003	0.0002	0.0019	0.0018	2.987e-05	0.0002	0	0	0	0.0016	0.0002	0.0004	0.0022	0.0003	0.0003	0.0001	0.0004	0.0033	0.0002	0.0002	0.0021	0.0017	0.0001	0	0.0005	0	0	0	0	0.0001	0.0005	0.0033	0.28	0.15509	T	0.66	0.25286	T	0.005	0.12996	B	0.008	0.13708	B	0.877419	0.08780	U	0.905665	0.977844	0.25287	N	1.525	0.38595	L	-1.89	0.84557	D	-0.45	0.14782	N	0.206	0.27792	-0.4928	0.68909	T	0.468	0.79476	T	10	0.011244088	0.00247	T	0.051189	0.64555	D	0.242	0.54781	.	.	0.844340815084	0.84284	.	.	0.245959487969	0.27123	0.304541051388	0.11082	T	0.12043	0.44266	T	-0.402167	0.02241	T	-0.357246	0.38371	T	0.079155748262095	0.09877	T	0.787421	0.42899	T	0.31829092	0.54495	0.3117458	0.57179	0.27824175	0.50879	0.30706838	0.56729	-1.848	0.02656	T	.	.	0.074	0.05188	B	.;.	.;.	3.516897	0.49280	22.8	0.99295945375523942	0.58433	0.75340	0.36883	D	AEFDBCI	0.533927	0.55318	D	-0.0778507318527609	0.38364	2.245899	0.0466743801742749	0.41912	2.525969	0.99999999787588	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	4.88	4.88	0.63131	6.360000	0.73005	5.858000	0.50403	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	1.0:0.0:0.0:0.0	14.153	0.64936	917	0.20147	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	826.33	36	chr2	232544900	.	A	G	826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.399;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.782;SOR=0.6	GT:AD:DP:GQ:PL	0/1:40,33:73:99:840,0,1080	18	0	1	0
chr2	233320749	233320749	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon5:c.G301A:p.A101T	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	0	1474	42	6	0	54	0.017988	.	.	.	177079	Retinal_dystrophy|not_provided|Retinitis_pigmentosa|Oguchi_disease|not_specified	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|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0019152,MedGen:C1306122,Orphanet:75382|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	.	0.0053	0.00519169	0.0072	0.0009	0.0108	0.0007	0.0003	0.0096	0.0111	0.0057	0.0046183	714	154602	rs141521563	0.0055	0.0055	0.0054	0.0056	0.0217	0.0054	0.0054	0.0186	0.0174	0.0014	0.0065	0.0039	7.618e-05	0.0008	0.0217	0.0060	0.0060	0.0039	0.0049	0.0049	0.0052	0.0047	0.0103	0.0047	0.0045	0.0090	0.0085	0.0012	0.0022	0.0103	0.0037	0	0.0005	0.0442	0.0070	0.0109	0.0033	0.388	0.11406	T	0.478	0.11968	T	0.016	0.17332	B	0.005	0.11217	B	0.738102	0.09799	N	0.890096	1	0.08975	N	0.27	0.09956	N	2.62	0.12988	T	0.04	0.06488	N	0.085	0.06190	-0.9528	0.40485	T	0.013	0.04985	T	10	0.00363034	0.00066	T	.	.	.	0.082	0.23913	.	.	0.254244900254	0.25046	0.17835848608187713	0.17754	0.116900116094	0.13183	0.233760118484	0.02257	T	0.039324	0.25150	T	-0.703368	0.00035	T	-0.779948	0.02455	T	0.00457881012053394	0.00049	T	.	.	.	0.048743807	0.08546	0.047433566	0.06829	0.060242333	0.12337	0.04567798	0.06200	-3.757	0.20164	T	.	.	0.062	0.01367	B	.;.	.;.	1.185281	0.15760	12.08	0.96521220570154986	0.30115	0.04053	0.09499	N	AEFDBI	0.087851	0.17813	N	-0.980965216979719	0.09011	0.4247244	-1.01176104578037	0.09525	0.4744348	0.744458308868908	0.23263	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	-0.751	0.10518	-0.611000	0.05718	-1.023000	0.06573	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.2868:0.244:0.2244:0.2448	0.131	0.00068	861	0.33516	Arrestin-like, N-terminal;Arrestin-like, N-terminal	.	.	.	.	.	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	0.016113	0.010101	0.023098	0.008772	0.000000	0.034483	0.018293	0.011364	0.05263	3313.83	34	chr2	233320749	.	G	A	3313.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.725;DP=901;ExcessHet=0.119;FS=2.053;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.257;SOR=0.561	GT:AD:DP:GQ:PL	0/1:73,73:146:99:1820,0,1814	17	0	2	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	22154.8	102	chr2	233681881	.	T	G	22154.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.327;DP=1664;ExcessHet=1.2994;FS=1.262;InbreedingCoeff=0.0087;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.254;SOR=0.815	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1280,0,1823	7	3	9	0
chr2	233757013	233757013	T	G	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	1175	190	33	124	0	281	0.425113	.	.	YES	27327	not_provided|UGT1A8-related_condition|Gilbert_syndrome|Gilbert_syndrome,_susceptibility_to|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome,_type_II|Crigler-Najjar_syndrome_type_1|UGT1A9-related_disorder	MedGen:C3661900|.|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MedGen:C4016425|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.588059	.	.	.	.	.	.	.	.	0.483095	12574	26028	rs4124874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5551	0.5558	0.5568	0.5533	0.8203	0.5519	0.5506	0.8129	0.8099	0.8203	0.4823	0.4853	0.5378	0.3271	0.4919	0.5000	0.4377	0.5124	0.5886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	181.74	1	chr2	233757013	.	T	G	181.74	.	AC=6;AF=0.429;AN=14;DP=17;ExcessHet=0;FS=0;InbreedingCoeff=0.476;MLEAC=9;MLEAF=0.643;MQ=60;QD=30.29;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	3	0	12
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Crigler-Najjar_syndrome|not_specified|UGT1A1-related_disorder|not_provided|Crigler-Najjar_syndrome,_type_II|BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1|Lucey-Driscoll_syndrome|Gilbert_syndrome|Crigler-Najjar_syndrome_type_1|Irinotecan_response	MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MedGen:CN077989	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|drug_response|other	.	.	.	.	.	.	.	.	.	.	.	0.32528	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs34983651	0.3008	0.3073	0.2983	0.3034	0.3582	0.3001	0.2997	0.3546	0.3532	0.3449	0.2826	0.3392	0.1204	0.3429	0.3139	0.2993	0.3013	0.3582	0.3460	0.3472	0.3436	0.3485	0.4077	0.3435	0.3425	0.3928	0.3907	0.3979	0.4218	0.3198	0.3809	0.1263	0.4167	0.3231	0.3199	0.3187	0.4077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	3857.85	16	chr2	233760233	.	C	CAT	3857.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.483;DP=405;ExcessHet=1.2994;FS=2.65;InbreedingCoeff=-0.0363;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=0;SOR=0.366	GT:AD:DP:GQ:PL	1/1:0,12:12:36:450,36,0	7	3	9	0
chr3	15074864	15074864	C	T	exonic	RBSN	.	nonsynonymous SNV	RBSN:NM_001302378:exon13:c.G1273A:p.G425R,RBSN:NM_022340:exon14:c.G1273A:p.G425R	.	426	1062	33	1	0	35	0.0162112	.	.	.	166150	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.195434023651	0.0036	0.00259585	0.0055	0.0007	0.0010	0	0.0070	0.0072	0.0067	0.0071	0.0052069	805	154602	rs144008665	0.0054	0.0054	0.0052	0.0056	0.0130	0.0053	0.0052	0.0106	0.0098	0.0005	0.0012	0.0003	7.557e-05	0.0074	0.0130	0.0057	0.0048	0.0076	0.0040	0.0040	0.0036	0.0045	0.0070	0.0038	0.0037	0.0055	0.0053	0.0008	0	0.0031	0.0003	0.0002	0.0077	0.0068	0.0060	0.0043	0.0070	0.028	0.46129	D	0.008	0.67890	D	0.979	0.59044	D	0.551	0.49270	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	0.49	0.55775	T	-2.54	0.55025	D	0.736	0.79792	-0.7383	0.58540	T	0.169	0.50842	T	10	0.0075536966	0.00172	T	0.195434	0.86421	D	0.197	0.47942	0.322	0.30226	0.52891208781	0.52539	0.5606232059612715	0.55989	1.243952825	0.81618	0.664383888245	0.62036	T	0.090354	0.38568	T	-0.214009	0.18817	T	-0.0760405	0.65192	T	0.0545332893113079	0.06279	T	0.854215	0.54045	D	0.2833947	0.51372	0.25550038	0.51234	0.2833947	0.51372	0.25550038	0.51233	-4.542	0.31434	T	.	.	0.297	0.52945	B	.;.	.;.	4.122498	0.61634	24.4	0.99931917575123164	0.99439	0.98708	0.85845	D	AEFDBCI	0.896546	0.83774	D	0.584265364167002	0.72193	5.767207	0.609250153351065	0.75613	6.341222	0.999999996829047	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	7.563000	0.81293	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	20.049	0.97617	489	0.76795	.;.	.	.	.	.	.	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	0.006042	0.010101	0.001359	0.011696	0.000000	0.008621	0.009146	0.011364	0.05263	3064.83	39	chr3	15074864	.	C	T	3064.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.39;DP=866;ExcessHet=0.119;FS=2.554;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=1.24;SOR=0.899	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1501,0,1323	17	0	2	0
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	67	130	17	12	0	41	0.136213	.	.	.	293472	Congenital_Myasthenic_Syndrome,_Recessive|not_provided	MedGen:CN239337|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1179837883	0.1825	0.2084	0.1812	0.1838	0.3061	0.1819	0.1816	0.3005	0.2982	0.3061	0.2555	0.1878	0.2355	0.1166	0.2281	0.1758	0.1937	0.1911	0.2696	0.2733	0.2717	0.2674	0.3754	0.2674	0.2665	0.3703	0.3683	0.3754	0.1670	0.3074	0.2298	0.2766	0.1317	0.2705	0.2249	0.2744	0.2276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4210.29	29	chr3	15521729	.	T	TTG	4210.29	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.908;DP=686;ExcessHet=1.8686;FS=6.498;InbreedingCoeff=0.0129;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=18.88;ReadPosRankSum=-0.523;SOR=1.239	GT:AD:DP:GQ:PL	0/1:12,13:25:99:372,0,366	10	1	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	12741.0	20	chr3	27721936	.	G	GCGGCGC	12741.0	.	AC=26;AF=0.684;AN=38;BaseQRankSum=-0.839;DP=443;ExcessHet=0.0524;FS=2.607;InbreedingCoeff=0.3602;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=28.87;ReadPosRankSum=0.221;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,14:23:99:0|1:27721936_G_GCGGCGC:494,0,310:27721936	3	10	6	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	289084	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1528	0.0855	0.1686	0.1749	0.2173	0.1539	0.1706	0.1422	0.0001153	3	26028	rs111598115	0.1433	0.1582	0.1438	0.1429	0.1571	0.1428	0.1426	0.1536	0.1522	0.0970	0.1463	0.1186	0.1571	0.1933	0.0911	0.1440	0.1425	0.1265	0.1545	0.1568	0.1526	0.1565	0.1932	0.1528	0.1521	0.1873	0.1848	0.1476	0.0835	0.1932	0.1594	0.1759	0.2204	0.1434	0.1430	0.1580	0.1278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	95762.0	329	chr3	149141200	.	C	CTTTT	95762.0	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.089;DP=7853;ExcessHet=8.7202;FS=0.528;InbreedingCoeff=-0.3838;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.228;SOR=0.752	GT:AD:DP:GQ:PL	1/0:0,112:329:99:12007,3091,2128	11	0	8	0
chr3	149141200	149141200	-	TTTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	293178	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0744	0.0191	0.0463	0.0847	0.0760	0.0775	0.0748	0.1106	0.0070309	183	26028	rs111598115	0.1260	0.1391	0.1267	0.1253	0.1355	0.1255	0.1253	0.1333	0.1328	0.0161	0.0544	0.0660	0.1337	0.1271	0.0493	0.1336	0.1139	0.1355	0.1620	0.1643	0.1603	0.1639	0.2658	0.1603	0.1596	0.2538	0.2490	0.0392	0.1806	0.1516	0.1322	0.2658	0.2489	0.1204	0.2160	0.1362	0.2525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	95762.0	329	chr3	149141200	.	C	CTTTTT	95762.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.089;DP=7853;ExcessHet=8.7202;FS=0.528;InbreedingCoeff=-0.3838;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.228;SOR=0.752	GT:AD:DP:GQ:PL	0/1:0,126:329:99:12007,3160,2302	14	0	5	0
chr3	149172318	149172318	-	CACA	UTR3	HPS3	NM_001308258:c.*96_*97insCACA;NM_032383:c.*96_*97insCACA	.	.	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	289088	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs374839757	0.1024	0.0998	0.1004	0.1041	0.1572	0.1016	0.1013	0.1528	0.1510	0.0572	0.0746	0.0510	0.1572	0.1543	0.0386	0.0972	0.0986	0.1216	0.1386	0.1400	0.1352	0.1421	0.2299	0.1370	0.1363	0.2187	0.2142	0.0804	0.1479	0.1238	0.0817	0.2299	0.2501	0.0664	0.1548	0.1201	0.1704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1962.02	4	chr3	149172318	.	T	TCACA	1962.02	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.191;DP=258;ExcessHet=1.6165;FS=0;InbreedingCoeff=-0.0375;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=0.66;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,2:9:63:.:.:63,0,288:.	15	0	4	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	0.5526	85232.2	375	chr4	6300980	.	C	T	85232.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.441;DP=4379;ExcessHet=0.1862;FS=0.605;InbreedingCoeff=0.2549;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=22.78;ReadPosRankSum=-0.679;SOR=0.767	GT:AD:DP:GQ:PL	0/1:111,134:245:99:3608,0,3145	5	7	7	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	0.5789	63552.2	254	chr4	6301295	.	C	T	63552.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=1.58;DP=3316;ExcessHet=0.5308;FS=0.581;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=21.89;ReadPosRankSum=-0.018;SOR=0.604	GT:AD:DP:GQ:PL	0/1:88,106:194:99:2925,0,2127	4	7	8	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	.	.	.	.	.	.	.	.	0.4737	31737.2	130	chr4	9783510	.	T	C	31737.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.592;DP=1781;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=18;MLEAF=0.474;MQ=59.93;MQRankSum=0;QD=20.95;ReadPosRankSum=0.468;SOR=0.649	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1811,0,1982	6	5	8	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	0.7632	94577.4	236	chr4	38797027	.	C	A	94577.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-0.546;DP=3688;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=29;MLEAF=0.763;MQ=53.96;MQRankSum=-8.634;QD=26.54;ReadPosRankSum=-0.324;SOR=0.701	GT:AD:DP:GQ:PL	0/1:85,89:174:99:2685,0,2551	1	11	7	0
chr4	71557873	71557873	T	C	exonic	SLC4A4	.	synonymous SNV	SLC4A4:NM_003759:exon19:c.T2793C:p.I931I,SLC4A4:NM_001098484:exon22:c.T2925C:p.I975I,SLC4A4:NM_001134742:exon22:c.T2925C:p.I975I	Renal tubular acidosis, proximal, with ocular abnormalities, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	764610	not_provided|Autosomal_recessive_proximal_renal_tubular_acidosis	MedGen:C3661900|MONDO:MONDO:0011422,MedGen:C1970309,OMIM:604278,Orphanet:93607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	0.0002	0	0.0002	0	0.0008	0.0001	0.0011	0.0005	0.0001746	27	154602	rs143924311	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	8.968e-05	7.669e-05	0	0.0007	0.0009	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0004	9.751e-05	8.265e-05	0.0001	7.904e-05	2.407e-05	0	0	0	0.0002	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2773.81	34	chr4	71557873	.	T	C	2773.81	.	AC=2;AF=0.053;AN=38;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.52;SOR=1.382	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2801,264,0	18	1	0	0
chr4	157143877	157143877	C	T	exonic	GLRB	.	synonymous SNV	GLRB:NM_000824:exon8:c.C822T:p.Y274Y,GLRB:NM_001166060:exon8:c.C822T:p.Y274Y,GLRB:NM_001166061:exon8:c.C822T:p.Y274Y	Hyperekplexia 2, autosomal recessive	1	1504	16	1	0	18	0.00594845	.	.	.	294032	not_provided|Hyperekplexia_2	MedGen:C3661900|MONDO:MONDO:0013828,MedGen:C3553291,OMIM:614619,Orphanet:3197	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	0.000199681	0.0004	0.0003	0.0005	0	0	0.0006	0.0011	0.0001	0.0003622	56	154602	rs147320218	0.0004	0.0004	0.0004	0.0004	0.0090	0.0004	0.0004	0.0070	0.0063	0.0002	0.0008	0.0024	0	0.0001	0.0090	0.0003	0.0006	0.0001	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0011	0.0010	0.0001	0	0.0016	0.0026	0	9.416e-05	0.0068	0.0003	0.0009	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	0.005544	0.005051	0.005435	0.014620	0.000000	0.017241	0.000000	0.000000	0.02632	2404.33	33	chr4	157143877	.	C	T	2404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=826;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=2.79;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,87:174:99:0|1:157143877_C_T:2418,0,2136:157143877	18	0	1	0
chr5	236534	236534	C	T	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon9:c.C1223T:p.S408L,SDHA:NM_001330758:exon10:c.C1367T:p.S456L,SDHA:NM_004168:exon10:c.C1367T:p.S456L	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1356	166	0	0	166	0.0576789	.	.	YES	521527	not_provided|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Paragangliomas_5|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.824	.	.	.	0.0207	0.0207	0.0089	0.0181	0.0145	0.0202	0.0261	0.0347	5.17e-05	8	154602	rs76896145	0.0003	0.0207	0.0003	0.0004	0.0019	0.0003	0.0003	0.0010	0.0008	0.0002	2.272e-05	3.933e-05	2.54e-05	0.0005	0.0019	0.0004	0.0003	0.0005	1.314e-05	0.0004	1.286e-05	1.344e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	9.416e-05	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000231	0.47286	U	0.146175	1	0.81001	D	5.245	0.99966	H	-0.8	0.73845	T	-5.5	0.85844	D	0.636	0.64903	-0.4279	0.71134	T	0.038	0.16462	T	10	0.021521896	0.00516	T	.	.	.	0.824	0.94390	.	.	.	.	0.9612936845788073	0.96115	1.30130239228	0.83020	0.84791135788	0.89299	D	0.663362	0.90174	D	0.404082	0.90147	D	0.34266	0.90024	D	0.996323704719543	0.89114	D	0.907009	0.67171	D	0.92644167	0.93881	0.9093043	0.95639	0.97659326	0.98840	0.9279344	0.96952	-13.673	0.91945	D	0.9292556587934766	0.97085	0.998	0.98268	P	.;.;.;.	.;.;.;.	4.781782	0.77512	26.7	0.99900343983699358	0.97199	0.97954	0.78397	D	AEFGBI	0.939419	0.93998	D	0.929847297116785	0.93144	11.84873	0.74746776699684	0.85967	8.741357	0.99999998878309	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	7.585000	0.81876	7.620000	0.62269	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	16.16	0.81512	840	0.37365	FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;.	.	.	.	.	.	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	0.020208	0.071429	0.008219	0.043103	0.125000	0.017857	0.024648	0.016260	0.05263	414.83	35	chr5	236534	.	C	T	414.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.176;DP=921;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.97;MQRankSum=-10.94;QD=1.44;ReadPosRankSum=2.26;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,16:128:99:0|1:236534_C_T:335,0,4587:236534	17	0	2	0
chr5	7873489	7873489	G	C	exonic	MTRR	.	synonymous SNV	MTRR:NM_001364440:exon3:c.G246C:p.P82P,MTRR:NM_001364441:exon3:c.G246C:p.P82P,MTRR:NM_001364442:exon3:c.G246C:p.P82P,MTRR:NM_002454:exon3:c.G246C:p.P82P,MTRR:NM_024010:exon3:c.G246C:p.P82P	Homocystinuria-megaloblastic anemia, cbl E type, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	691880	Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblE	MedGen:CN043592|MONDO:MONDO:0009354,MedGen:C1856057,OMIM:236270,Orphanet:2169,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00119808	0.0007	9.61e-05	8.637e-05	0	0	5.993e-05	0	0.0048	0.0005951	92	154602	rs149300444	0.0003	0.0003	0.0002	0.0004	0.0047	0.0003	0.0003	0.0043	0.0042	5.974e-05	0.0001	0	0	0	0.0012	2.698e-05	0.0004	0.0047	0.0002	0.0002	0.0001	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	4.816e-05	0	0.0001	0	0	0	0	2.941e-05	0.0005	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1096.33	33	chr5	7873489	.	G	C	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.205;DP=760;ExcessHet=0;FS=2.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.333;SOR=0.484	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1110,0,1789	18	0	1	0
chr5	13864513	13864513	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon28:c.C4480T:p.R1494W	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1517	4	1	0	6	0.00197368	.	.	.	521035	Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.568	0.0997423386215	.	0.000199681	0.0001	0	0.0002	0	0	1.499e-05	0	0.0008	0.0001164	18	154602	rs535366955	9.44e-05	9.44e-05	5.581e-05	0.0001	0.0012	8.134e-05	7.65e-05	0.0010	0.0009	0	0	0	2.519e-05	1.872e-05	0.0012	1.619e-05	0.0001	0.0012	6.575e-05	6.565e-05	5.145e-05	8.07e-05	0.0012	3.519e-05	2.618e-05	0.0005	0.0004	4.821e-05	0	0	0	0.0002	0	0	1.471e-05	0	0.0012	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.928957	0.36911	D	4.545	0.99110	H	-0.27	0.67367	T	-7.2	0.94223	D	0.866	0.86297	0.546	0.91177	D	0.627	0.86895	D	10	0.8989341	0.89252	D	0.099742	0.77157	D	0.568	0.82403	0.849	0.95143	0.800318515168	0.79845	0.8902563679122448	0.88995	0.449518881182	0.44739	0.640836238861	0.58682	T	0.866681	0.97086	D	0.00901795	0.52892	T	0.199644	0.83108	D	0.943406760692596	0.61853	D	0.998284	0.99183	D	0.950225	0.96288	0.9063166	0.95427	0.950225	0.96288	0.9063166	0.95427	-13.284	0.90498	D	0.7686270645114324	0.84982	0.560	0.67225	A	.	.	2.239517	0.28593	17.85	0.99805517978883496	0.88995	0.57738	0.30456	D	AEFI	0.508919	0.53860	D	0.0182761297899954	0.42687	2.576662	-0.291211242179471	0.28387	1.582413	0.128198736578796	0.17035	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.32	-5.55	0.02336	1.624000	0.36629	0.634000	0.20256	-0.235000	0.07621	0.955000	0.33325	0.376000	0.24592	0.455000	0.28006	0.0:0.0:0.7847:0.2153	21.017	0.99946	756	0.51065	Dynein heavy chain, domain-2	.	.	.	.	.	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	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1567.33	33	chr5	13864513	.	G	A	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=755;ExcessHet=0;FS=2.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.181;SOR=0.53	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1581,0,1766	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	9628.75	13	chr5	13886135	.	CAAA	C	9628.75	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.821;DP=859;ExcessHet=2.9153;FS=5.194;InbreedingCoeff=-0.2258;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=19.69;ReadPosRankSum=0.636;SOR=1.251	GT:AD:DP:GQ:PL	0/1:7,14:32:11:607,0,252	7	0	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	7231.25	39	chr5	38528849	.	GAC	G	7231.25	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.37;DP=803;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-0.359;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,14:35:99:.:.:383,0,754:.	6	0	13	0
chr5	58990910	58990910	-	A	intronic	PDE4D	.	.	.	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	304675	Acrodysostosis|not_provided	MONDO:MONDO:0019797,MedGen:C0220659,OMIM:PS101800,Orphanet:950|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0823	0.0910	0.0692	0.0160	0.068	0.0833	0.0775	0.0945	0.0001921	5	26028	rs1472076496	0.1087	0.1217	0.1089	0.1085	0.1147	0.1081	0.1079	0.1140	0.1137	0.1136	0.0992	0.0929	0.0329	0.0781	0.0852	0.1147	0.1085	0.1066	0.0918	0.0904	0.0922	0.0913	0.1015	0.0904	0.0899	0.0994	0.0985	0.0941	0.0494	0.0938	0.0764	0.0028	0.0682	0.0778	0.1015	0.0865	0.0847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1404.9	20	chr5	58990910	.	G	GA	1404.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.269;DP=977;ExcessHet=20.8569;FS=0.617;InbreedingCoeff=-0.6737;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.61;ReadPosRankSum=0.029;SOR=0.808	GT:AD:DP:GQ:PL	0/1:25,10:44:99:182,0,566	17	0	2	0
chr5	127455393	127455393	C	T	intronic	MEGF10	.	.	.	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Autosomal recessive;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, Autosomal recessive	18	1479	21	4	0	29	0.00970874	0	0.018	.	295161	not_specified|MEGF10-related_myopathy|not_provided|MEGF10-related_disorder	MedGen:CN169374|MONDO:MONDO:0013731,MedGen:C3280679,OMIM:614399,Orphanet:439212|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0013	0.000798722	0.0016	9.925e-05	0.0026	0	0	0.0021	0.0066	0.0009	0.0015847	245	154602	rs185480820	0.0012	0.0012	0.0011	0.0013	0.0137	0.0012	0.0011	0.0113	0.0104	0.0013	0.0021	0.0064	2.52e-05	5.618e-05	0.0137	0.0010	0.0028	0.0009	0.0010	0.0010	0.0009	0.0012	0.0021	0.0009	0.0009	0.0015	0.0013	0.0003	0	0.0021	0.0043	0	0	0.0136	0.0012	0.0033	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1262.33	34	chr5	127455393	.	C	T	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=706;ExcessHet=0;FS=3.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.15;SOR=0.436	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1276,0,1133	18	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	0.5263	31326.9	142	chr5	138556481	.	G	A	31326.9	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.479;DP=1832;ExcessHet=1.9883;FS=0;InbreedingCoeff=-0.0556;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=18.95;ReadPosRankSum=0.509;SOR=0.711	GT:AD:DP:GQ:PL	1/1:0,110:110:99:3354,330,0	4	5	10	0
chr5	146878727	146878727	-	GCTGCTGCTGCTGCT	UTR5	PPP2R2B	NM_181675:c.-657_-656insAGCAGCAGCAGCAGC;NM_001271948:c.-22193_-22192insAGCAGCAGCAGCAGC	.	.	Spinocerebellar ataxia 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	215310	PPP2R2B-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077225	201	26028	rs142461655	0.1009	0.1092	0.0980	0.1038	0.1147	0.1004	0.1001	0.1126	0.1118	0.0771	0.0840	0.1328	0.0832	0.1021	0.1107	0.1002	0.1125	0.1147	0.0968	0.0971	0.0995	0.0940	0.1241	0.0955	0.0949	0.1169	0.1160	0.0773	0.0833	0.0789	0.1165	0.0656	0.0518	0.1069	0.1190	0.0968	0.1241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	19975.9	44	chr5	146878727	.	A	AGCTGCTGCTGCTGCT	19975.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.18;DP=1226;ExcessHet=3.6106;FS=0;InbreedingCoeff=-0.1709;MLEAC=9;MLEAF=0.237;MQ=59.98;MQRankSum=0;QD=26.22;ReadPosRankSum=-0.488;SOR=0.734	GT:AD:DP:GQ:PL	0/1:0,42:48:99:2303,258,105	11	1	7	0
chr5	149027919	149027919	G	A	exonic	SH3TC2	.	nonsynonymous SNV	SH3TC2:NM_024577:exon11:c.C1813T:p.R605C	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	682993	Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4|Inborn_genetic_diseases	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.211	0.0809683124471	.	.	1.653e-05	0	8.645e-05	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs778936762	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0002	1.456e-05	1.264e-05	5.849e-05	3.758e-05	0.0001	0	0	0	0	0.0002	9.892e-06	9.934e-05	8.115e-05	1.314e-05	1.313e-05	0	2.69e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.215	0.26306	T	0.997	0.70673	D	0.614	0.51198	P	0.062451	0.22097	N	0.499855	0.995649	0.23238	N	1.59	0.40313	L	-0.25	0.67011	T	-1.28	0.32185	N	0.353	0.40164	-0.8172	0.54109	T	0.238	0.60535	T	10	0.3426082	0.51289	T	0.080968	0.73579	D	0.211	0.50185	0.615	0.74884	0.833541382194	0.83195	0.2751183875176259	0.27424	0.202593536193	0.22681	0.240893498063	0.02871	T	0.117394	0.43745	T	-0.227634	0.16963	T	-0.328088	0.41681	T	0.370238393545151	0.27806	T	0.893211	0.63049	D	0.12457294	0.29224	0.08722421	0.20261	0.12457294	0.29224	0.08722421	0.20260	-5.184	0.39466	T	0.0693069268108061	0.02587	0.100	0.17700	B	.;.	.;.	4.449677	0.69162	25.3	0.99862609854475104	0.94093	0.94601	0.61699	D	AEFBI	0.789647	0.71878	D	0.167225876328552	0.49629	3.161294	0.190843216110881	0.49344	3.138719	0.999783761818744	0.43007	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	6.04	3.18	0.35615	6.754000	0.74705	6.464000	0.55700	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	0.1334:0.1211:0.7455:0.0	10.660	0.44892	783	0.47268	.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1285.33	34	chr5	149027919	.	G	A	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=856;ExcessHet=0;FS=1.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.878;SOR=0.532	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1299,0,1267	18	0	1	0
chr5	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R,FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:NM_213647:exon9:c.G1162A:p.G388R	.	415	588	404	115	0	634	0.350276	.	.	.	31365	Cancer_progression_and_tumor_cell_motility|See_cases|FGFR4-related_disorder|not_specified	MedGen:C4016099|.|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.283988	0.252525	0.250000	0.336257	0.400000	0.275862	0.240854	0.363636	0.4211	26088.0	152	chr5	177093242	.	G	A	26088.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.67;DP=1763;ExcessHet=6.1876;FS=0;InbreedingCoeff=-0.2955;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.497;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,52:117:99:.:.:1444,0,1664:.	5	2	12	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	0.7632	213407.0	523	chr6	7585734	.	G	C	213407.0	.	AC=29;AF=0.763;AN=38;BaseQRankSum=1.92;DP=8493;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=25.96;ReadPosRankSum=0.206;SOR=0.669	GT:AD:DP:GQ:PL	1/1:0,493:493:99:16744,1480,0	1	11	7	0
chr6	7585852	7585852	T	C	exonic	DSP	.	nonsynonymous SNV	DSP:NM_001008844:exon24:c.T6793C:p.F2265L,DSP:NM_001319034:exon24:c.T7261C:p.F2421L,DSP:NM_004415:exon24:c.T8590C:p.F2864L	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	.	.	.	.	.	.	.	.	.	.	910657	Cardiomyopathy|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Cardiovascular_phenotype|not_provided|Arrhythmogenic_right_ventricular_dysplasia_8|Woolly_hair-skin_fragility_syndrome|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.186	0.0448436694775	.	.	2.525e-05	0.0001	0	0	0	3.073e-05	0	0	1.94e-05	3	154602	rs764514210	2.189e-05	2.189e-05	1.906e-05	2.475e-05	0.0009	1.584e-05	1.356e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.248e-05	1.656e-05	1.16e-05	3.942e-05	3.94e-05	2.569e-05	5.379e-05	9.65e-05	1.715e-05	1.129e-05	3.249e-05	1.914e-05	9.65e-05	0	0	0	0	0	0	2.939e-05	0	0	0.0	0.91255	D	0.033	0.53072	D	0.003	0.11197	B	0.01	0.14941	B	0.000015	0.62929	D	0.000000	0.950946	0.37717	D	1.87	0.49600	L	-0.47	0.73523	T	-2.2	0.51811	N	0.446	0.48411	-0.8646	0.50930	T	0.154	0.48464	T	10	0.19714859	0.35635	T	0.044844	0.61690	D	0.186	0.46104	0.149	0.05238	0.597203257499	0.59400	0.3919646509663837	0.39111	0.254362264465	0.28005	0.63508951664	0.57867	T	0.408976	0.76414	T	-0.127355	0.31924	T	-0.184045	0.56147	T	0.353158384561539	0.27142	T	0.728927	0.34859	T	0.40213922	0.60881	0.4115999	0.65386	0.40213922	0.60881	0.4115999	0.65386	-4.236	0.27270	T	0.64252395899098	0.71344	0.605	0.69090	P	.;.	.;.	3.187160	0.43288	21.7	0.99597006607891003	0.73983	0.94964	0.62946	D	AEFBCI	0.826876	0.74628	D	-0.159103166873739	0.34849	1.994393	-0.0418929306483803	0.37844	2.221307	0.993082658329407	0.33079	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.87	3.69	0.41483	3.386000	0.52232	4.248000	0.42743	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1362:0.0:0.1424:0.7214	7.899	0.28886	382	0.83637	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	5211.33	52	chr6	7585852	.	T	C	5211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=1243;ExcessHet=0;FS=1.23;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.645;SOR=0.619	GT:AD:DP:GQ:PL	0/1:178,193:371:99:5225,0,4531	18	0	1	0
chr6	10775364	10775364	C	T	exonic	MAK	.	nonsynonymous SNV	MAK:NM_001377262:exon11:c.G1459A:p.V487I,MAK:NM_001242385:exon12:c.G1561A:p.V521I,MAK:NM_001242957:exon12:c.G1561A:p.V521I,MAK:NM_005906:exon12:c.G1561A:p.V521I	Retinitis pigmentosa 62, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1434650	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.00715698386387	.	.	.	.	.	.	.	.	.	.	.	.	.	rs990185904	1.984e-05	2.052e-05	2.451e-05	1.513e-05	0.0002	1.392e-05	1.204e-05	1.46e-05	1.227e-05	0	0	0	0	0	0.0002	2.159e-05	3.313e-05	2.319e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.328783	0.14149	N	0.692665	1	0.08975	N	-0.97	0.01230	N	-0.58	0.71425	T	0.1	0.05810	N	0.051	0.07949	-1.0200	0.23715	T	0.024	0.10013	T	10	0.039702535	0.02481	T	0.007157	0.18979	T	0.058	0.16647	0.266	0.21261	0.319686207203	0.31575	0.04049822996762733	0.03995	0.130433540118	0.14714	0.233334347606	0.02224	T	0.035345	0.23683	T	-0.304069	0.08281	T	-0.67455	0.07319	T	0.065473040526976	0.08000	T	0.210379	0.04152	T	0.018360581	0.00357	0.02244526	0.00269	0.018360581	0.00357	0.02244526	0.00269	-4.379	0.29271	T	0.06499045237221991	0.02110	0.063	0.07554	B	.;.;.;.	.;.;.;.	-1.230297	0.00501	0.011	0.66557213821082306	0.08094	0.00482	0.02293	N	AEFBI	0.031554	0.03400	N	-1.80147202763025	0.00541	0.02331875	-1.75988964788968	0.00896	0.04008543	5.77432237052514E-4	0.07363	0.554377	0.28877	0	0.54472	0.11627	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	-4.17	0.03595	-1.126000	0.03365	-0.750000	0.07581	-1.690000	0.00773	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2068:0.264:0.1062:0.4229	1.289	0.01932	814	0.42100	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1289.33	35	chr6	10775364	.	C	T	1289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.789;DP=803;ExcessHet=0;FS=1.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-1.209;SOR=0.481	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1303,0,962	18	0	1	0
chr6	26090951	26090951	C	G	exonic	HFE	.	nonsynonymous SNV	HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_001384164:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D	Hemochromatosis, Autosomal recessive	2	1194	302	24	0	350	0.127831	.	.	YES	15049	Familial_porphyria_cutanea_tarda|Hemochromatosis_type_1|TRANSFERRIN_SERUM_LEVEL_QUANTITATIVE_TRAIT_LOCUS_2|Variegate_porphyria|Microvascular_complications_of_diabetes,_susceptibility_to,_7|Alzheimer_disease|See_cases|Cystic_fibrosis|not_provided|Cardiomyopathy|Bronze_diabetes|Hereditary_hemochromatosis|not_specified	MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062|MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:139498,Orphanet:465508|MedGen:C3280096,OMIM:614193|MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473|MONDO:MONDO:0012971,MedGen:C2673520,OMIM:612635|Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020|.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C0018995|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.315	.	0.1107	0.0730831	0.1066	0.0290	0.0959	0.0365	0.1031	0.1368	0.1300	0.0779	0.109171	16878	154602	rs1799945	0.1351	0.1352	0.1361	0.1341	0.1501	0.1346	0.1344	0.1495	0.1493	0.0276	0.1031	0.1163	0.0312	0.1058	0.1222	0.1501	0.1248	0.0795	0.1015	0.1017	0.1038	0.0991	0.1503	0.1002	0.0996	0.1479	0.1469	0.0296	0.0724	0.1099	0.1208	0.0269	0.0959	0.1054	0.1503	0.1297	0.0773	0.016	0.51853	D	0.146	0.40426	T	0.147	0.64070	B	0.083	0.62698	B	0.346540	0.13882	N	0.680049	1	0.08975	P	1.79	0.46772	L	-2.42	0.88611	D	-1.23	0.45769	N	0.299	0.37301	0.103	0.84222	D	0.631	0.87050	D	9	0.0015847087	0.00018	T	.	.	.	0.315	0.63694	.	.	.	.	0.9919645876196251	0.99192	0.986908435057	0.73940	0.511884570122	0.40485	T	0.131905	0.46168	T	-0.287491	0.09890	T	-0.0676057	0.65796	T	0.012003537063212	0.00189	T	0.564244	0.19889	T	0.44828805	0.63933	0.3678599	0.62087	0.5796515	0.71590	0.30211145	0.56242	-3.758	0.33991	T	0.5987737628714522	0.66574	0.333	0.67715	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.087160	0.41550	21.4	0.98505846847621126	0.42276	0.07898	0.13886	N	AEFDBI	0.078262	0.15787	N	-0.213524220581138	0.32577	1.838779	-0.257839665235987	0.29501	1.653376	0.989988003865806	0.31999	0.623552	0.39893	0	0.588066	0.40923	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	5.3	3.51	0.39297	1.868000	0.39146	3.701000	0.39526	0.599000	0.40250	0.744000	0.29069	1.000000	0.68203	0.993000	0.69303	0.175:0.7358:0.0:0.0892	6.685	0.22327	500	0.76024	.;.;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;.;.;MHC class I-like antigen recognition-like	U91328.19|HFE|BTN2A3P|SLC17A1|SLC17A3|GUSBP2|HFE|HFE|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HFE|HFE|HIST1H3E|HFE|HFE|HIST1H3E|SLC17A3|HFE|RP11-457M11.5|HIST1H3E|HFE|HIST1H3E|HFE|HFE|HFE|HFE|HFE|HIST1H3E|TRIM38|HFE|HIST1H3E|HIST1H3E	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	HFE	Cells_Cultured_fibroblasts	rs1799945	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.119839	0.181818	0.100543	0.166667	0.000000	0.155172	0.121951	0.079545	0.2105	12003.2	37	chr6	26090951	.	C	G	12003.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.773;DP=1300;ExcessHet=0.6689;FS=1.101;InbreedingCoeff=0.05;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.604;SOR=0.809	GT:AD:DP:GQ:PL	0/1:68,38:106:99:1108,0,1865	12	1	6	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	.	.	.	.	.	.	.	.	0.7105	33397.6	78	chr6	32039081	.	C	A	33397.6	.	AC=27;AF=0.711;AN=38;BaseQRankSum=-0.074;DP=1336;ExcessHet=2.8258;FS=2.779;InbreedingCoeff=-0.1515;MLEAC=27;MLEAF=0.711;MQ=60;MQRankSum=0;QD=26.38;ReadPosRankSum=0.296;SOR=0.447	GT:AD:DP:GQ:PL	0/1:18,39:57:99:1031,0,367	1	9	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	2126.6	5	chr6	42963889	.	GTTTA	G	2126.6	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-0.524;DP=118;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.2455;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=30.38;ReadPosRankSum=-1.036;SOR=1.3	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0	5	8	6	0
chr6	52490311	52490311	A	C	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon10:c.A1812C:p.E604D,EFHC1:NM_001172420:exon11:c.A1755C:p.E585D	.	0	1510	12	0	0	12	0.00395778	.	.	.	134411	not_specified|not_provided|Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|Juvenile_myoclonic_epilepsy	MedGen:CN169374|MedGen:C3661900|MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MONDO:MONDO:0009696,MedGen:C0270853,OMIM:PS254770,Orphanet:307	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	0.0002	0.00219649	0.0017	0	0.0003	0	0	4.507e-05	0	0.0124	0.0015265	236	154602	rs369503191	0.0008	0.0008	0.0004	0.0011	0.0115	0.0007	0.0007	0.0109	0.0106	0	0.0002	0	0	0	0.0021	3.957e-05	0.0010	0.0115	0.0003	0.0003	0.0001	0.0005	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0.0001	0	0	0	0	0.0001	0	0.0070	0.748	0.03776	T	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	0.394215	0.13213	N	0.751926	0.999998	0.08975	N	-0.06	0.04898	N	0.92	0.44461	T	-0.02	0.07299	N	0.115	0.10340	-0.9788	0.35277	T	0.016	0.06664	T	10	0.0033372045	0.00058	T	.	.	.	0.031	0.07369	0.319	0.29741	0.464953486513	0.46119	0.16648808848209132	0.16568	0.077068649369	0.08657	0.279707670212	0.07451	T	0.060977	0.31532	T	-0.627401	0.00099	T	-0.6646	0.07959	T	0.00872844818848592	0.00107	T	0.684232	0.30630	T	0.029315807	0.02406	0.027176164	0.00852	0.021454683	0.00749	0.024846615	0.00512	-3.392	0.14949	T	.	.	0.070	0.10545	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.962149	0.13387	9.893	0.87962188463989954	0.17612	0.02930	0.07745	N	AEFDGBCIJ	0.032328	0.03627	N	-0.795966146545056	0.13414	0.6606749	-0.692779193718994	0.17141	0.9100885	0.999999581964257	0.74766	0.730579	0.87903	0	0.719019	0.82233	0	0.659464	0.59346	0	0.648885	0.59868	0	.	.	5.66	0.669	0.17086	0.204000	0.17133	0.013000	0.13471	0.756000	0.94297	0.188000	0.24163	0.000000	0.08366	0.704000	0.34264	0.2965:0.3805:0.0934:0.2296	1.597	0.02505	889	0.27310	EF-hand domain|EF-hand domain;.;EF-hand domain|EF-hand domain;EF-hand domain;EF-hand domain;EF-hand domain|EF-hand domain;EF-hand domain;EF-hand domain|EF-hand domain;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2293.33	33	chr6	52490311	.	A	C	2293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.607;DP=783;ExcessHet=0;FS=2.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0.162;SOR=0.503	GT:AD:DP:GQ:PL	0/1:56,85:141:99:2307,0,1371	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	3353.52	8	chr6	107876670	.	C	CAA	3353.52	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.14;DP=678;ExcessHet=2.8258;FS=8.916;InbreedingCoeff=-0.2482;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.274;SOR=1.258	GT:AD:DP:GQ:PL	0/1:6,8:26:5:177,0,211	11	0	7	1
chr6	152391580	152391580	-	AAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299476	Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0692	0.0572	0.0446	0.1472	0.0524	0.0572	0.0842	0.1106	0.0001921	5	26028	rs768125041	0.1080	0.1249	0.1087	0.1074	0.2456	0.1075	0.1073	0.2409	0.2389	0.0980	0.0497	0.0906	0.2456	0.0967	0.0955	0.1050	0.1115	0.1270	0.1623	0.1700	0.1628	0.1618	0.3566	0.1604	0.1596	0.3411	0.3349	0.1644	0.1811	0.1235	0.1686	0.3566	0.1421	0.1619	0.1554	0.1614	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3077.49	4	chr6	152391580	.	G	GAAAAAA	3077.49	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.027;DP=997;ExcessHet=2.7716;FS=1.26;InbreedingCoeff=-0.0999;MLEAC=6;MLEAF=0.167;MQ=59.98;MQRankSum=0;QD=6.93;ReadPosRankSum=-1.113;SOR=0.817	GT:AD:DP:GQ:PL	0/1:1,7:15:62:571,88,63	14	1	3	1
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	0.4737	20501.2	34	chr6	159692840	.	A	G	20501.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.6;DP=1097;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=25;ReadPosRankSum=0.29;SOR=0.683	GT:AD:DP:GQ:PL	0/1:43,39:82:99:1153,0,1317	7	6	6	0
chr7	16278234	16278234	-	A	intronic	CRPPA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	195281	not_provided|Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7|not_specified	MedGen:C3661900|MedGen:CN239202|MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479|MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0748	.	0.0735	0.1873	0.0511	0.0304	0.0238	0.0680	0.0732	0.0573	0.0047641	124	26028	rs3839757	0.0412	0.0543	0.0405	0.0420	0.1580	0.0409	0.0408	0.1537	0.1520	0.1580	0.0402	0.1747	0.0316	0.0254	0.0891	0.0345	0.0578	0.0441	0.0699	0.0694	0.0714	0.0683	0.1606	0.0688	0.0683	0.1573	0.1560	0.1606	0.0322	0.0442	0.1694	0.0192	0.0192	0.0552	0.0290	0.0733	0.0390	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	2487.34	25	chr7	16278234	.	T	TA	2487.34	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.215;DP=791;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.2083;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.437;SOR=0.657	GT:AD:DP:GQ:PL	0/1:27,19:49:99:366,0,625	14	1	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	49728.2	112	chr7	21867834	.	G	GT	49728.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=0.584;DP=1766;ExcessHet=0.1862;FS=1.331;InbreedingCoeff=0.2549;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=31.82;ReadPosRankSum=0.641;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,47:111:99:0|1:21867834_G_GT:1776,0,2522:21867834	5	7	7	0
chr7	30633897	30633898	AA	-	UTR3	GARS1	NM_001316772:c.*37_*38delAA;NM_002047:c.*37_*38delAA	.	.	.	338	128	20	2	1034	1058	0.0857143	.	.	.	311092	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	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	0.1444	0.1211	0.1934	0.0825	0.1342	0.1377	0.1975	0.001921	50	26028	rs1264036389	0.1231	0.1309	0.1212	0.1251	0.1942	0.1226	0.1224	0.1901	0.1884	0.1278	0.0990	0.1304	0.1942	0.0985	0.1716	0.1165	0.1342	0.1800	0.1053	0.1040	0.1039	0.1069	0.2053	0.1039	0.1033	0.1943	0.1899	0.1248	0.0146	0.0971	0.0960	0.1870	0.0699	0.1181	0.0886	0.1355	0.2053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	7387.91	11	chr7	30633896	.	TAA	T	7387.91	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.834;DP=713;ExcessHet=6.1876;FS=0;InbreedingCoeff=-0.4249;MLEAC=7;MLEAF=0.206;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=0.087;SOR=0.673	GT:AD:DP:GQ:PL	1/0:3,15:36:99:796,343,419	11	1	5	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	7387.91	11	chr7	30633896	.	TA	T	7387.91	.	AC=15;AF=0.441;AN=34;BaseQRankSum=0.834;DP=713;ExcessHet=6.1876;FS=0;InbreedingCoeff=-0.4249;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=0.087;SOR=0.673	GT:AD:DP:GQ:PL	0/1:3,18:36:99:796,283,256	4	2	11	2
chr7	74053320	74053320	-	TG	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	311577	Cutis_laxa,_autosomal_dominant|Supravalvar_aortic_stenosis|not_provided	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0594	0.0498	0.0290	0.0302	0.0243	0.0603	0.0760	0.0877	0.0354717	5484	154602	rs782441301	0.1125	0.1242	0.1127	0.1123	0.1405	0.1120	0.1119	0.1310	0.1272	0.0989	0.0798	0.1274	0.0588	0.0845	0.1405	0.1174	0.1164	0.1034	0.1344	0.1344	0.1380	0.1307	0.1514	0.1328	0.1322	0.1489	0.1479	0.1220	0.1678	0.1130	0.1702	0.0939	0.1013	0.2057	0.1514	0.1436	0.1330	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	71919.5	110	chr7	74053320	.	C	CTG	71919.5	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.424;DP=4445;ExcessHet=4.0268;FS=0;InbreedingCoeff=-0.2667;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=-0.236;SOR=0.711	GT:AD:DP:GQ:PL	0/1:11,55:186:99:5121,3863,4015	16	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	20506.8	40	chr7	92499847	.	CA	C	20506.8	.	AC=29;AF=0.763;AN=38;BaseQRankSum=1.13;DP=1301;ExcessHet=0.3441;FS=1.826;InbreedingCoeff=0.1244;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.145;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,68:72:99:.:.:1900,188,0:.	1	11	7	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	34711.6	68	chr7	103989356	.	T	TGCCGCC	34711.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=0.381;DP=1696;ExcessHet=1.0583;FS=0.653;InbreedingCoeff=0.0256;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=32.62;ReadPosRankSum=0.008;SOR=0.598	GT:AD:DP:GQ:PL	0/1:28,34:66:99:1501,0,1042	3	7	9	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	0.8684	64745.1	153	chr7	127611134	.	T	G	64745.1	.	AC=33;AF=0.868;AN=38;BaseQRankSum=0.533;DP=2444;ExcessHet=1.3;FS=0.784;InbreedingCoeff=-0.1515;MLEAC=33;MLEAF=0.868;MQ=60;MQRankSum=0;QD=27.18;ReadPosRankSum=-0.083;SOR=0.559	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4534,411,0	0	14	5	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	.	.	.	.	.	.	.	.	0.4118	3330.8	123	chr7	131505863	.	C	T	3330.8	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.702;DP=1547;ExcessHet=17.0548;FS=216.424;InbreedingCoeff=-0.6539;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.71;ReadPosRankSum=1.02;SOR=12.236	GT:AD:DP:GQ:PL	0/1:58,39:97:99:355,0,979	3	0	14	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	2115.83	8	chr7	140734797	.	G	GA	2115.83	.	AC=24;AF=0.857;AN=28;BaseQRankSum=0.385;DP=146;ExcessHet=0;FS=5.721;InbreedingCoeff=0.6727;MLEAC=29;MLEAF=1;MQ=60;MQRankSum=0;QD=29.45;ReadPosRankSum=1.65;SOR=2.099	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,4:4:12:.:.:115,12,0:.	2	12	0	5
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	.	.	.	.	.	.	.	.	0.2368	2979.82	33	chr7	142749524	.	C	G	2979.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.92;DP=3887;ExcessHet=5.3738;FS=11.36;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.237;MQ=58.47;MQRankSum=-17.66;QD=1.04;ReadPosRankSum=-2.454;SOR=2.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:303,25:328:99:0|1:142749506_A_G:138,0,12620:142749506	10	0	9	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	0.3947	19020.8	34	chr7	142750561	.	C	T	19020.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.382;DP=2359;ExcessHet=20.8569;FS=4.813;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.13;MQRankSum=-9.393;QD=8.76;ReadPosRankSum=-0.895;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,79:173:99:.:.:2881,0,2452:.	4	0	15	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	0.3684	10274.2	34	chr7	142750675	.	A	G	10274.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.342;DP=2628;ExcessHet=17.0548;FS=0.726;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=58.37;MQRankSum=-10.22;QD=4.35;ReadPosRankSum=-2.065;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,50:166:99:0|1:142750672_T_A:1684,0,4696:142750672	5	0	14	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	.	.	.	.	.	.	.	.	0.3684	8872.24	34	chr7	142750680	.	C	T	8872.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.64;DP=2512;ExcessHet=17.0548;FS=0.748;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=58.46;MQRankSum=-10.32;QD=3.97;ReadPosRankSum=-2.875;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,43:154:99:0|1:142750672_T_A:1471,0,4531:142750672	5	0	14	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	.	.	.	.	.	.	.	.	0.1316	1026.37	34	chr7	142750715	.	G	A	1026.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.31;DP=1545;ExcessHet=1.3;FS=1.882;InbreedingCoeff=-0.1513;MLEAC=5;MLEAF=0.132;MQ=58.4;MQRankSum=-10.18;QD=1.81;ReadPosRankSum=-3.298;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,20:113:99:.:.:420,0,2483:.	14	0	5	0
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	.	.	.	.	.	.	.	.	0.3947	31068.8	36	chr7	142752476	.	G	C	31068.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.828;DP=4034;ExcessHet=20.8569;FS=2.82;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=58.26;MQRankSum=-10.26;QD=8.18;ReadPosRankSum=0.19;SOR=0.669	GT:AD:DP:GQ:PL	0/1:185,102:287:99:3473,0,5352	4	0	15	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	.	.	.	.	.	.	.	.	0.1053	1384.43	144	chr7	142752950	.	A	G	1384.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.7;DP=4233;ExcessHet=0.7564;FS=2.188;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.95;MQRankSum=-15.16;QD=1.16;ReadPosRankSum=-4.467;SOR=1.079	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,28:315:99:0|1:142752947_A_G:312,0,11915:142752947	15	0	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	0.05263	80542.9	290	chr8	10610127	.	T	C	80542.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.188;DP=6208;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=59.68;MQRankSum=-0.647;QD=26.63;ReadPosRankSum=-0.83;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,130:306:99:0|1:10610066_T_C:4872,0,6929:10610066	17	0	2	0
chr8	27803549	27803549	-	ACAC	UTR3	ESCO2	NM_001017420:c.*111_*112insACAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	314100	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs144484866	0.2917	0.2737	0.2932	0.2903	0.3319	0.2909	0.2906	0.3158	0.3093	0.1909	0.2424	0.3492	0.0874	0.2780	0.3319	0.3039	0.2895	0.2493	0.3026	0.3027	0.3028	0.3024	0.3550	0.3003	0.2993	0.3512	0.3497	0.2176	0.2777	0.3136	0.4715	0.0718	0.3370	0.3690	0.3550	0.3395	0.2897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	858.52	3	chr8	27803549	.	T	TACAC	858.52	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-0.431;DP=85;ExcessHet=0.0013;FS=0;InbreedingCoeff=0.4121;MLEAC=7;MLEAF=0.206;MQ=60;MQRankSum=0;QD=33.02;ReadPosRankSum=-1.15;SOR=3.69	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,6:6:18:1|1:27803549_T_TACAC:270,18,0:27803549	13	3	1	2
chr8	30837446	30837446	A	C	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon10:c.T8838G:p.I2946M	.	426	1084	12	0	0	12	0.00550459	.	.	.	706475	Spermatogenic_failure_25|not_provided	MONDO:MONDO:0054729,MedGen:C4693765,OMIM:617960|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.057	.	0.0006	0.00379393	0.0032	9.658e-05	0.0205	0.0001	0.0011	0.0011	0.0033	0.0038	0.0030336	469	154602	rs145215857	0.0015	0.0015	0.0014	0.0016	0.0172	0.0015	0.0014	0.0162	0.0158	0.0004	0.0172	0.0027	7.559e-05	0.0010	0.0023	0.0007	0.0016	0.0044	0.0023	0.0023	0.0020	0.0026	0.0154	0.0021	0.0020	0.0138	0.0132	0.0003	0	0.0154	0.0009	0.0006	0.0008	0.0068	0.0010	0.0014	0.0037	0.027	0.46513	D	0.097	0.39190	T	0.899	0.49514	P	0.729	0.55225	P	0.938055	0.08373	N	0.967667	1	0.08975	N	0.895	0.22405	L	2.61	0.13095	T	-0.94	0.25118	N	0.276	0.31253	-1.0297	0.20551	T	0.023	0.09832	T	10	0.005690396	0.00126	T	.	.	.	0.057	0.16321	.	.	0.193865811164	0.18958	0.041363890965025345	0.04081	0.130758939133	0.14752	0.390586495399	0.23752	T	0.075347	0.35156	T	-0.587065	0.00175	T	-0.601118	0.12718	T	0.045457989632063	0.04686	T	0.518348	0.16810	T	0.06517606	0.13902	0.06354929	0.12606	0.06005748	0.12279	0.066391885	0.13591	-4.493	0.30797	T	.	.	0.117	0.23814	B	.;.;.	.;.;.	2.186792	0.27882	17.61	0.99114415744400008	0.52828	0.21035	0.21258	N	AEFBI	0.099312	0.19995	N	-0.305901934390306	0.28922	1.599464	-0.439227757006416	0.23855	1.303162	0.00237497887188054	0.09366	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.17	0.065	0.13669	1.098000	0.30612	1.754000	0.28498	0.756000	0.94297	0.770000	0.29357	0.775000	0.26732	0.032000	0.13371	0.4866:0.1705:0.1792:0.1638	0.748	0.00923	744	0.52588	.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	2596.33	35	chr8	30837446	.	A	C	2596.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=838;ExcessHet=0;FS=3.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.19;SOR=0.623	GT:AD:DP:GQ:PL	0/1:100,93:193:99:2610,0,2787	18	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	1397.93	22	chr8	132480670	.	A	AC	1397.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.079;DP=329;ExcessHet=1.8686;FS=11.611;InbreedingCoeff=-0.1149;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.709;SOR=1.731	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,12:13:9:.:.:258,9,0:.	15	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	24626.0	31	chr9	2622146	.	A	ACGG	24626.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.684;DP=1020;ExcessHet=0.3394;FS=0.629;InbreedingCoeff=0.1815;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=0.486;SOR=0.619	GT:AD:DP:GQ:PL	0/1:41,18:59:99:598,0,1647	9	2	8	0
chr9	105601139	105601139	A	G	intronic	FKTN	.	.	.	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	229	1243	42	8	0	58	0.0227987	0.0024	0.032	.	44804	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4|Walker-Warburg_congenital_muscular_dystrophy|Cardiomyopathy|not_provided|Dilated_cardiomyopathy_1X|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0087	0.00499201	0.0168	0.0016	0.0103	0.0002	0.0111	0.0202	0.0152	0.0286	0.0110865	1714	154602	rs41277795	0.0104	0.0106	0.0096	0.0112	0.0248	0.0102	0.0102	0.0239	0.0235	0.0018	0.0071	0.0181	7.639e-05	0.0078	0.0239	0.0099	0.0105	0.0248	0.0085	0.0085	0.0082	0.0089	0.0203	0.0081	0.0080	0.0170	0.0158	0.0019	0	0.0112	0.0184	0.0004	0.0095	0.0238	0.0110	0.0118	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1316	5050.37	73	chr9	105601139	.	A	G	5050.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.121;DP=942;ExcessHet=1.3;FS=1.846;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.434;SOR=0.549	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1233,0,1132	14	0	5	0
chr9	105615421	105615421	G	A	intronic	FKTN	.	.	.	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	0	1419	99	4	0	107	0.0363328	.	.	.	99430	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4|not_specified|Cardiovascular_phenotype|not_provided|Walker-Warburg_congenital_muscular_dystrophy|Dilated_cardiomyopathy_1X	MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0089	0.00499201	0.0118	0.0016	0.0059	0.0002	0.0089	0.0135	0.0099	0.0232	0.0112612	1741	154602	rs76180538	0.0105	0.0106	0.0099	0.0112	0.0237	0.0104	0.0103	0.0229	0.0225	0.0019	0.0072	0.0183	0.0001	0.0078	0.0227	0.0102	0.0108	0.0237	0.0085	0.0085	0.0082	0.0088	0.0201	0.0081	0.0080	0.0169	0.0157	0.0018	0	0.0112	0.0185	0.0002	0.0095	0.0238	0.0110	0.0118	0.0201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5667.37	77	chr9	105615421	.	G	A	5667.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.16;DP=940;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.087;SOR=0.665	GT:AD:DP:GQ:PL	0/1:44,39:83:99:996,0,1084	14	0	5	0
chr9	105635214	105635214	A	G	exonic	FKTN	.	nonsynonymous SNV	FKTN:NM_006731:exon10:c.A1336G:p.N446D,FKTN:NM_001079802:exon11:c.A1336G:p.N446D,FKTN:NM_001351501:exon11:c.A940G:p.N314D,FKTN:NM_001351496:exon12:c.A1336G:p.N446D,FKTN:NM_001351500:exon12:c.A940G:p.N314D,FKTN:NM_001351497:exon13:c.A1267G:p.N423D,FKTN:NM_001351499:exon13:c.A940G:p.N314D,FKTN:NM_001351502:exon14:c.A940G:p.N314D	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	0	1418	99	5	0	109	0.0370119	.	.	.	44802	Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided|Dilated_cardiomyopathy_1X|Cardiovascular_phenotype|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.300	.	0.0089	0.00519169	0.0119	0.0016	0.0060	0.0001	0.0091	0.0135	0.0099	0.0233	0.0113453	1754	154602	rs41313301	0.0106	0.0106	0.0100	0.0112	0.0239	0.0105	0.0104	0.0230	0.0227	0.0019	0.0071	0.0183	7.557e-05	0.0079	0.0232	0.0102	0.0109	0.0239	0.0085	0.0085	0.0082	0.0089	0.0205	0.0081	0.0080	0.0173	0.0160	0.0018	0	0.0112	0.0184	0.0002	0.0096	0.0238	0.0111	0.0118	0.0205	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	0.87	0.46412	T	-3.58	0.69118	D	0.585	0.60579	-0.5018	0.68585	T	0.229	0.59384	T	10	0.009369671	0.00212	T	.	.	.	0.300	0.62068	.	.	.	.	0.8684169532120566	0.86806	0.221170247473	0.24664	0.498468160629	0.38615	T	0.758453	0.93437	D	-0.428331	0.01517	T	-0.370459	0.36836	T	0.0199803224639138	0.00699	T	0.858114	0.54842	D	0.4999224	0.67091	0.5050974	0.71394	0.4950371	0.66803	0.505191	0.71401	-8.868	0.66843	D	0.7717772321367129	0.85268	0.593	0.68599	P	.;.	.;.	4.572964	0.72174	25.8	0.99814950412451908	0.89885	0.98813	0.87189	D	AEFBI	0.892999	0.83050	D	0.886677694834095	0.91093	10.71156	0.867387695774653	0.93989	12.42429	0.999997937782057	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	8.886000	0.92075	11.219000	0.89698	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.770	0.77928	946	0.12043	.;.	FKTN|FKTN|FKTN|FKTN|FKTN|FKTN	Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	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	0.024673	0.025253	0.019022	0.032164	0.000000	0.025862	0.030488	0.022727	0.1316	8603.37	192	chr9	105635214	.	A	G	8603.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.795;DP=1178;ExcessHet=1.3;FS=1.773;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.897;SOR=0.541	GT:AD:DP:GQ:PL	0/1:55,83:138:99:2078,0,1381	14	0	5	0
chr9	127682538	127682538	C	T	exonic	STXBP1	.	synonymous SNV	STXBP1:NM_001374315:exon17:c.C1572T:p.N524N,STXBP1:NM_001032221:exon18:c.C1680T:p.N560N,STXBP1:NM_001374306:exon18:c.C1671T:p.N557N,STXBP1:NM_001374309:exon18:c.C1638T:p.N546N,STXBP1:NM_001374313:exon18:c.C1680T:p.N560N,STXBP1:NM_001374314:exon18:c.C1680T:p.N560N,STXBP1:NM_003165:exon18:c.C1680T:p.N560N,STXBP1:NM_001374307:exon19:c.C1638T:p.N546N,STXBP1:NM_001374308:exon19:c.C1638T:p.N546N,STXBP1:NM_001374310:exon19:c.C1638T:p.N546N,STXBP1:NM_001374311:exon19:c.C1638T:p.N546N,STXBP1:NM_001374312:exon19:c.C1638T:p.N546N	Epileptic encephalopathy, early infantile, 4, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	143058	Developmental_and_epileptic_encephalopathy,_4|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy|not_specified|not_provided	MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164,Orphanet:1934,Orphanet:33069,Orphanet:599373|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100620,MedGen:C5779964|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.649e-05	0	0	0.0002	0	0	0.00011	17	154602	rs201809337	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	2.988e-05	0.0002	0	0	1.876e-05	0.0016	0.0001	0.0001	0.0002	5.256e-05	5.253e-05	6.423e-05	4.034e-05	0.0001	2.557e-05	1.83e-05	4.764e-05	3.338e-05	2.412e-05	0	0	0	0	0	0	0.0001	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	.	.	.	.	.	.	.	.	0.02632	1184.33	41	chr9	127682538	.	C	T	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.93;DP=738;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.544;SOR=0.906	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1198,0,963	18	0	1	0
chr9	131009213	131009213	C	T	UTR5	LAMC3	NM_006059:c.-2C>T	.	.	Cortical malformations, occipital, Autosomal recessive	20	1453	45	4	0	53	0.0179115	.	.	.	275321	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00499201	0	0	.	.	.	0	.	.	0.001824	282	154602	rs137883250	0.0219	0.0175	0.0220	0.0219	0.0281	0.0217	0.0216	0.0235	0.0234	0.0033	0.0111	0.0188	4.401e-05	0.0125	0.0281	0.0237	0.0185	0.0092	0.0142	0.0141	0.0143	0.0140	0.0222	0.0137	0.0135	0.0212	0.0208	0.0042	0	0.0132	0.0144	0	0.0131	0.0137	0.0222	0.0162	0.0093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	58.35	6	chr9	131009213	.	C	T	58.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.655;DP=230;ExcessHet=0;FS=7.782;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.48;ReadPosRankSum=-1.309;SOR=0.027	GT:AD:DP:GQ:PL	0/1:5,4:9:72:72,0,175	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	8852.51	27	chr9	132897613	.	GA	G	8852.51	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.341;DP=2102;ExcessHet=13.8672;FS=0.626;InbreedingCoeff=-0.52;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.037;SOR=0.771	GT:AD:DP:GQ:PL	0/1:23,35:96:99:730,0,385	4	0	15	0
chr9	133555922	133555922	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon11:c.C1641T:p.H547H,ADAMTSL2:NM_014694:exon11:c.C1641T:p.H547H	Geleophysic dysplasia 1, Autosomal recessive	4	1025	431	62	0	555	0.213052	.	.	.	317128	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0156143	2414	154602	rs7868941	0.1558	0.1558	0.1578	0.1537	0.2226	0.1552	0.1550	0.2120	0.2078	0.1409	0.1034	0.1845	0.0005	0.2171	0.2226	0.1673	0.1555	0.0618	0.1564	0.1566	0.1576	0.1552	0.1741	0.1547	0.1540	0.1715	0.1704	0.1426	0.2357	0.1371	0.1958	0.0010	0.2236	0.2041	0.1741	0.1776	0.0504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	6997.41	34	chr9	133555922	.	C	T	6997.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.019;DP=942;ExcessHet=0.0101;FS=1.321;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=1.27;SOR=0.602	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1658,0,1638	16	1	2	0
chr9	133568420	133568420	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon14:c.C2022T:p.P674P,ADAMTSL2:NM_014694:exon14:c.C2022T:p.P674P	Geleophysic dysplasia 1, Autosomal recessive	0	1140	340	42	0	424	0.156805	.	.	.	508835	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0092302	1427	154602	rs534165083	0.1392	0.1391	0.1410	0.1374	0.1524	0.1387	0.1385	0.1518	0.1516	0.0847	0.0821	0.1171	0.0115	0.2030	0.1510	0.1524	0.1308	0.0510	0.1254	0.1256	0.1256	0.1253	0.1561	0.1240	0.1233	0.1537	0.1526	0.0864	0.0439	0.1089	0.1227	0.0039	0.2088	0.1293	0.1561	0.1380	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	7962.79	35	chr9	133568420	.	C	T	7962.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.08;DP=1204;ExcessHet=0.3672;FS=2.418;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.326;SOR=0.851	GT:AD:DP:GQ:PL	0/1:126,108:234:99:2705,0,2926	16	0	3	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	.	.	.	.	.	.	.	.	0.6053	29638.8	93	chr9	133569476	.	A	G	29638.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.97;DP=1386;ExcessHet=0.0003;FS=0;InbreedingCoeff=0.6696;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=25.62;ReadPosRankSum=0.46;SOR=0.682	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2207,210,0	6	10	3	0
chr9	133573863	133573863	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon18:c.G2613A:p.V871V,ADAMTSL2:NM_014694:exon18:c.G2613A:p.V871V	Geleophysic dysplasia 1, Autosomal recessive	1	1145	334	42	0	418	0.154357	.	.	.	317138	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0134345	2077	154602	rs62637566	0.1354	0.1354	0.1370	0.1338	0.1550	0.1349	0.1347	0.1471	0.1469	0.0882	0.0810	0.1175	0.0116	0.1984	0.1550	0.1477	0.1287	0.0500	0.1243	0.1245	0.1244	0.1242	0.1520	0.1228	0.1222	0.1496	0.1486	0.0910	0.0570	0.1072	0.1238	0.0039	0.2030	0.1327	0.1520	0.1329	0.0400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	4019.79	34	chr9	133573863	.	G	A	4019.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.744;DP=970;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.406;SOR=0.678	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1425,0,1313	16	0	3	0
chr9	137234642	137234643	CT	-	exonic	SLC34A3	.	frameshift deletion	SLC34A3:NM_001177316:exon12:c.1246_1247del:p.L417Tfs*175,SLC34A3:NM_001177317:exon12:c.1246_1247del:p.L417Tfs*175,SLC34A3:NM_080877:exon12:c.1246_1247del:p.L417Tfs*175	Hypophosphatemic rickets with hypercalciuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	946543	SLC34A3-related_disorder|Autosomal_recessive_hypophosphatemic_bone_disease|not_provided	.|MONDO:MONDO:0009431,MedGen:C1853271,OMIM:241530,Orphanet:157215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	5.095e-05	0	0.0004	0	0	1.551e-05	0	0	3.88e-05	6	154602	rs757714479	7.054e-05	7.046e-05	7.768e-05	6.332e-05	0.0003	5.92e-05	5.529e-05	0.0002	0.0002	2.987e-05	0.0003	0	0	0	0	7.105e-05	9.94e-05	2.319e-05	1.97e-05	1.968e-05	0	4.03e-05	0.0001	5.24e-06	2.45e-06	2.259e-05	9.06e-06	0	0	0.0001	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5521.29	34	chr9	137234641	.	CCT	C	5521.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=964;ExcessHet=0;FS=0.435;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.58;ReadPosRankSum=-1.04;SOR=0.748	GT:AD:DP:GQ:PL	0/1:140,142:282:99:5535,0,5417	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	2895.72	4	chr10	8074278	.	G	GA	2895.72	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-0.407;DP=172;ExcessHet=0.0012;FS=0;InbreedingCoeff=0.5952;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=25.4;ReadPosRankSum=-0.21;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,10:10:30:264,30,0	5	11	3	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	0.6053	12490.8	35	chr10	23193706	.	T	C	12490.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.33;DP=673;ExcessHet=10.2499;FS=0.629;InbreedingCoeff=-0.4319;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=19.95;ReadPosRankSum=0.143;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,37:37:99:.:.:1344,111,0:.	1	5	13	0
chr10	54213995	54213995	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon9:c.C928T:p.L310F,PCDH15:NM_001142768:exon9:c.C973T:p.L325F,PCDH15:NM_001142773:exon9:c.C973T:p.L325F,PCDH15:NM_001142764:exon10:c.C1039T:p.L347F,PCDH15:NM_001142765:exon10:c.C1039T:p.L347F,PCDH15:NM_001142766:exon10:c.C1039T:p.L347F,PCDH15:NM_001354411:exon10:c.C1039T:p.L347F,PCDH15:NM_001354420:exon10:c.C1039T:p.L347F,PCDH15:NM_001354429:exon10:c.C1039T:p.L347F,PCDH15:NM_001354430:exon10:c.C1039T:p.L347F,PCDH15:NM_001384140:exon10:c.C1039T:p.L347F,PCDH15:NM_033056:exon10:c.C1039T:p.L347F,PCDH15:NM_001142763:exon11:c.C1054T:p.L352F,PCDH15:NM_001354404:exon12:c.C973T:p.L325F	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	3	1495	24	0	0	24	0.00796284	.	.	.	55599	not_specified|Usher_syndrome_type_1|not_provided|Usher_syndrome_type_1F	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.0477581669201	0.0035	0.00119808	0.0036	0.0006	0.0018	0	0.0009	0.0053	0.0033	0.0028	0.0035575	550	154602	rs111033436	0.0041	0.0041	0.0039	0.0042	0.0050	0.0040	0.0039	0.0042	0.0041	0.0007	0.0020	0.0168	0	0.0010	0.0050	0.0043	0.0045	0.0030	0.0032	0.0032	0.0033	0.0030	0.0046	0.0029	0.0028	0.0042	0.0040	0.0008	0.0110	0.0029	0.0161	0	0.0004	0.0034	0.0046	0.0043	0.0027	0.002	0.72154	D	0.0	0.92824	D	0.997	0.90584	D	0.964	0.88582	D	.	.	.	.	1	0.81001	D	2.615	0.76484	M	0.43	0.56772	T	-2.87	0.62518	D	0.807	0.87481	-0.3166	0.74517	T	0.307	0.67740	T	9	0.0059919655	0.00134	T	0.047758	0.63066	D	0.254	0.56428	.	.	0.705405603352	0.70284	0.6460078611123972	0.64535	0.21467462913	0.24008	0.611727297306	0.54561	T	0.124994	0.82072	T	-0.257932	0.13143	T	-0.140943	0.60036	T	0.0103998413265441	0.00143	T	0.944805	0.79334	D	0.4974293	0.66944	0.3812635	0.63140	0.50377804	0.67317	0.36944348	0.62214	-11.315	0.81932	D	0.6398601033422839	0.71041	0.504	0.74312	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.742781	0.76508	26.5	0.99903023584850525	0.97426	0.94803	0.62383	D	AEFDI	0.849311	0.76613	D	0.798106157721513	0.85986	8.743229	0.752945161623409	0.86377	8.869651	0.499505483150631	0.20930	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	7.139000	0.76905	9.765000	0.81528	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.206	0.89790	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	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	0.005035	0.010101	0.001359	0.005848	0.000000	0.000000	0.006098	0.007576	0.02632	856.33	33	chr10	54213995	.	G	A	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=715;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.051;SOR=0.781	GT:AD:DP:GQ:PL	0/1:45,33:78:99:870,0,1125	18	0	1	0
chr10	71798442	71798442	G	A	exonic	CDH23	.	synonymous SNV	CDH23:NM_001171933:exon3:c.G198A:p.L66L,CDH23:NM_001171934:exon3:c.G198A:p.L66L,CDH23:NM_022124:exon48:c.G6918A:p.L2306L	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	1486	36	0	0	36	0.0119681	.	.	YES	55187	not_provided|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|not_specified|Usher_syndrome_type_1D	MedGen:C3661900|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0006	0.00479233	0.0036	0.0002	0.0011	0.0001	0	0.0015	0.0045	0.0188	0.003163	489	154602	rs146819206	0.0019	0.0019	0.0014	0.0024	0.0188	0.0018	0.0018	0.0181	0.0177	5.974e-05	0.0008	0.0068	2.519e-05	0.0001	0.0083	0.0006	0.0027	0.0188	0.0011	0.0012	0.0010	0.0013	0.0159	0.0010	0.0010	0.0131	0.0120	0.0001	0	0.0008	0.0058	0.0002	9.411e-05	0.0068	0.0008	0.0005	0.0159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.004532	0.000000	0.001359	0.005848	0.050000	0.008621	0.003049	0.011364	0.02632	1657.33	41	chr10	71798442	.	G	A	1657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.008;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-0.826;SOR=0.715	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1671,0,1280	18	0	1	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	20166.3	21	chr10	90918983	.	AATAAATAAATATATATAT	A	20166.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1;DP=684;ExcessHet=0.0125;FS=8.123;InbreedingCoeff=0.4682;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.83;ReadPosRankSum=1.04;SOR=0.229	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,52:55:53:1|1:90918983_AATAAATAAATATATATAT_A:2197,53,0:90918983	7	7	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9211	20063.0	23	chr10	123053169	.	AT	A	20063.0	.	AC=35;AF=0.921;AN=38;BaseQRankSum=0.756;DP=975;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=35;MLEAF=0.921;MQ=60;MQRankSum=0;QD=26.06;ReadPosRankSum=-0.156;SOR=0.653	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1067,117,0	0	16	3	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	.	.	.	.	.	.	.	.	0.7895	74441.6	127	chr11	2159830	.	T	G	74441.6	.	AC=30;AF=0.789;AN=38;BaseQRankSum=1.45;DP=2966;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=30;MLEAF=0.789;MQ=60;MQRankSum=0;QD=26.43;ReadPosRankSum=0.916;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,174:175:99:.:.:5347,514,0:.	2	13	4	0
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	.	.	.	.	.	.	.	.	0.6316	24565.1	85	chr11	17386857	.	C	T	24565.1	.	AC=24;AF=0.632;AN=38;BaseQRankSum=2.46;DP=1180;ExcessHet=0.0884;FS=0;InbreedingCoeff=0.3214;MLEAC=24;MLEAF=0.632;MQ=60;MQRankSum=0;QD=24.49;ReadPosRankSum=-0.201;SOR=0.711	GT:AD:DP:GQ:PL	0/1:53,25:78:99:661,0,1429	4	9	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	13485.2	79	chr11	17408375	.	T	C	13485.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.477;DP=999;ExcessHet=1.9883;FS=0.562;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-1.189;SOR=0.772	GT:AD:DP:GQ:PL	0/1:37,30:67:99:764,0,990	5	4	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4522.1	9	chr11	17414293	.	A	G	4522.1	.	AC=27;AF=0.75;AN=36;BaseQRankSum=0.253;DP=216;ExcessHet=0.0524;FS=3.178;InbreedingCoeff=0.3136;MLEAC=28;MLEAF=0.778;MQ=60;MQRankSum=0;QD=25.55;ReadPosRankSum=0.126;SOR=1.559	GT:AD:DP:GQ:PL	1/1:0,11:11:33:352,33,0	2	11	5	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	11266.2	36	chr11	17414389	.	G	A	11266.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-0.287;DP=593;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=23.92;ReadPosRankSum=0.284;SOR=0.65	GT:AD:DP:GQ:PL	0/1:24,16:40:99:504,0,714	4	7	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	15894.2	57	chr11	17414419	.	G	A	15894.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-1.201;DP=879;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=22.39;ReadPosRankSum=-0.193;SOR=0.743	GT:AD:DP:GQ:PL	0/1:31,25:56:99:744,0,873	4	7	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7368	28817.0	97	chr11	17415389	.	A	G	28817.0	.	AC=28;AF=0.737;AN=38;BaseQRankSum=1.13;DP=1219;ExcessHet=0.0151;FS=0;InbreedingCoeff=0.4571;MLEAC=28;MLEAF=0.737;MQ=60;MQRankSum=0;QD=26.41;ReadPosRankSum=-0.044;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1889,183,0	3	12	4	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H	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	8	536	705	273	0	1251	0.538528	.	.	.	167532	Permanent_neonatal_diabetes_mellitus|not_provided|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Cerebral_edema|not_specified|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.414560	0.333333	0.405995	0.438596	0.500000	0.500000	0.393293	0.431298	0.4211	32289.9	190	chr11	17430945	.	G	A	32289.9	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.597;DP=1785;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=22.12;ReadPosRankSum=-0.168;SOR=0.777	GT:AD:DP:GQ:PL	1/1:0,125:125:99:3941,375,0	8	5	6	0
chr11	46726112	46726112	C	T	exonic	F2	.	synonymous SNV	F2:NM_000506:exon7:c.C813T:p.G271G	Dysprothrombinemia, Autosomal recessive;Hypoprothrombinemia, Autosomal recessive;Thrombophilia due to thrombin defect, Autosomal dominant	0	1442	78	2	0	82	0.0276467	.	.	.	314188	Congenital_prothrombin_deficiency|Thrombophilia_due_to_thrombin_defect|F2-related_disorder	MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0082	0.00638978	0.0086	0.0017	0.0031	0.0002	0.0011	0.0087	0.0078	0.0237	0.0081241	1256	154602	rs5899	0.0097	0.0097	0.0093	0.0101	0.0246	0.0096	0.0095	0.0238	0.0234	0.0013	0.0049	0.0073	5.038e-05	0.0012	0.0128	0.0098	0.0099	0.0246	0.0071	0.0071	0.0068	0.0073	0.0244	0.0067	0.0066	0.0209	0.0195	0.0017	0	0.0078	0.0086	0.0006	0.0008	0.0102	0.0104	0.0081	0.0244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.018630	0.000000	0.013587	0.023392	0.000000	0.025862	0.027439	0.030303	0.02632	1866.33	34	chr11	46726112	.	C	T	1866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.772;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.962;SOR=0.692	GT:AD:DP:GQ:PL	0/1:69,74:143:99:1880,0,1560	18	0	1	0
chr11	66070569	66070569	C	G	exonic	PACS1	.	nonsynonymous SNV	PACS1:NM_018026:exon1:c.C83G:p.S28C	Schuurs-Hoeijmakers syndrome, Autosomal dominant	385	1136	1	0	0	1	0.000439947	.	.	.	207888	not_specified|Inborn_genetic_diseases|PACS1-related_disorder	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.1477733243	.	.	0.0026	0	0	0	0	0	0	0.0037	0.0001552	24	154602	rs763294619	0.0002	0.0002	0.0002	0.0003	0.0034	0.0002	0.0002	0.0030	0.0029	3.726e-05	0	0	3.488e-05	0	0.0007	4.366e-05	0.0002	0.0034	0.0001	0.0001	0.0001	0.0001	0.0031	8.198e-05	6.749e-05	0.0019	0.0016	0	0	0	0	0	0	0	4.429e-05	0.0005	0.0031	0.0	0.91255	D	0.085	0.41074	T	0.9	0.49598	P	0.089	0.29769	B	0.112124	0.19371	N	0.277584	0.986256	0.24634	N	0.895	0.22405	L	1.88	0.23884	T	-0.27	0.11366	N	0.236	0.26596	-1.0977	0.04380	T	0.045	0.19234	T	10	0.008917958	0.00202	T	0.147773	0.82976	D	0.053	0.14996	0.188	0.09776	0.151262610727	0.14761	0.17392962500123596	0.17312	1.36435413803	0.84409	0.914445996284	0.97872	D	0.022775	0.17502	T	-0.462334	0.00951	T	-0.439623	0.28852	T	0.191782791393195	0.19949	T	0.484552	0.14745	T	0.24131316	0.47045	0.2851111	0.54512	0.24131316	0.47045	0.2851111	0.54511	-7.557	0.58010	D	.	.	0.137	0.29779	B	.	.	3.490317	0.48778	22.7	0.96282798081611931	0.29286	0.29298	0.23785	N	AEFDGBHCI	0.075207	0.15097	N	-0.23768387067811	0.31598	1.77339	-0.245793043928377	0.29917	1.68003	0.999999952709011	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.249971	0.05119	0	.	.	2.94	2.94	0.33188	2.935000	0.48657	5.213000	0.47973	0.219000	0.18061	0.469000	0.26714	1.000000	0.68203	0.507000	0.29175	0.0:1.0:0.0:0.0	9.466	0.37980	319	0.87030	.	.	.	.	.	.	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	0.001091	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007752	0.05263	574.83	35	chr11	66070569	.	C	G	574.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.98;DP=464;ExcessHet=0.119;FS=6.032;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.704;SOR=1.569	GT:AD:DP:GQ:PL	0/1:20,12:32:99:342,0,479	17	0	2	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	0.3158	42743.9	296	chr11	89178528	.	C	A	42743.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.421;DP=3285;ExcessHet=4.0818;FS=0;InbreedingCoeff=-0.2179;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.108;SOR=0.669	GT:AD:DP:GQ:PL	1/1:0,265:265:99:8839,796,0	8	1	10	0
chr11	108244862	108244862	A	G	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon7:c.A737G:p.N246S,ATM:NM_001351834:exon8:c.A737G:p.N246S	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	.	.	.	.	.	.	.	.	.	YES	525631	Familial_cancer_of_breast|not_provided|Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.191	0.073393988328	.	.	8.243e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs781023264	6.842e-06	6.84e-06	6.807e-06	6.877e-06	2.523e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	2.523e-05	0	0	7.195e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53172	D	0.079	0.49120	T	0.95	0.53885	P	0.542	0.48916	P	0.000000	0.84330	D	0.000000	0.965816	0.38491	D	2.42	0.70002	M	4.32	0.02387	T	-2.28	0.50830	N	0.759	0.76666	-1.0624	0.11166	T	0.017	0.07187	T	10	0.40145308	0.55596	T	0.073394	0.71777	D	0.191	0.46948	0.487	0.57098	0.972047490015	0.97174	0.4129519829091547	0.41211	0.441542982226	0.44134	0.430950969458	0.29338	T	0.164859	0.51048	T	-0.273567	0.11363	T	-0.533883	0.18901	T	0.883011817932129	0.53316	D	0.728327	0.35417	T	0.36955255	0.58552	0.23654792	0.48929	0.36955255	0.58553	0.23654792	0.48928	-3.262	0.13252	T	0.29735565993254826	0.39446	0.124	0.25946	B	.;.;.	.;.;.	3.614779	0.51120	23.0	0.99848451393999682	0.92838	0.98091	0.79521	D	AEFGBI	0.684579	0.64688	D	0.56724337511961	0.71138	5.605589	0.60794517947387	0.75518	6.324362	0.999991246305751	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.53	5.53	0.82530	6.687000	0.74383	6.063000	0.53189	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.954	0.79654	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	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1591.33	35	chr11	108244862	.	A	G	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.959;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.27;SOR=0.681	GT:AD:DP:GQ:PL	0/1:47,62:109:99:1605,0,1329	18	0	1	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	780	740	2	0	744	0.322917	.	.	.	266166	not_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3421	2518.84	90	chr12	6018369	.	T	G	2518.84	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.118;DP=842;ExcessHet=13.8672;FS=7.854;InbreedingCoeff=-0.542;MLEAC=13;MLEAF=0.342;MQ=55.8;MQRankSum=-6.333;QD=3.86;ReadPosRankSum=1.54;SOR=0.316	GT:AD:DP:GQ:PL	0/1:27,14:41:99:257,0,752	6	0	13	0
chr12	6936729	6936743	CAGCAGCAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1476del:p.Q498_Q502del,ATN1:NM_001940:exon5:c.1462_1476del:p.Q498_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1038180	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs377147612	0.1134	0.1126	0.1157	0.1112	0.1567	0.1130	0.1128	0.1534	0.1521	0.0199	0.0648	0.0455	0.1567	0.1585	0.0448	0.1218	0.1039	0.0489	0.0951	0.0940	0.0944	0.0957	0.1823	0.0937	0.0932	0.1722	0.1682	0.0275	0.0597	0.0884	0.0459	0.1823	0.1747	0.0417	0.1235	0.0954	0.0530	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	30319.4	79	chr12	6936728	.	ACAGCAGCAGCAGCAG	A	30319.4	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.939;DP=1487;ExcessHet=0.0524;FS=1.701;InbreedingCoeff=0.3603;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=33.76;ReadPosRankSum=-0.887;SOR=0.626	GT:AD:DP:GQ:PL	0/1:19,38:59:99:1485,0,1050	16	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	13088.5	19	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	13088.5	.	AC=29;AF=0.763;AN=38;BaseQRankSum=3.05;DP=1223;ExcessHet=0.0003;FS=21.899;InbreedingCoeff=0.6833;MLEAC=29;MLEAF=0.763;MQ=59.36;MQRankSum=0;QD=31.75;ReadPosRankSum=0.192;SOR=2.092	GT:AD:DP:GQ:PL	1/1:0,21:21:80:980,80,0	4	14	1	0
chr12	8604926	8604926	-	AA	intronic	AICDA	.	.	.	Immunodeficiency with hyper-IgM, type 2, Autosomal recessive	533	144	331	418	96	1263	0.802062	.	.	.	332949	Hyper-IgM_syndrome_type_2|not_provided|Hyperimmunoglobulin_M_syndrome	MONDO:MONDO:0011528,MedGen:C1720956,OMIM:605258,Orphanet:101089|MedGen:C3661900|MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0927	.	0.0609	0.0246	0.1102	0.0415	0.0617	0.0541	0.0714	0.0834	0.0003074	8	26028	rs5796316	0.1025	0.1775	0.1048	0.1003	0.1307	0.1020	0.1018	0.1273	0.1260	0.0421	0.1307	0.1048	0.0868	0.0995	0.1003	0.1067	0.1019	0.0733	0.0173	0.0193	0.0163	0.0183	0.0545	0.0167	0.0164	0.0513	0.0500	0.0078	0.0022	0.0545	0.0263	0.0023	0.0246	0.0184	0.0148	0.0151	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	15508.2	11	chr12	8604926	.	C	CAA	15508.2	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.278;DP=949;ExcessHet=4.0268;FS=0.936;InbreedingCoeff=-0.24;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.65;ReadPosRankSum=-0.375;SOR=0.862	GT:AD:DP:GQ:PL	0/1:2,9:51:56:1128,863,905	16	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	11234.8	27	chr12	21174718	.	T	TA	11234.8	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.433;DP=1312;ExcessHet=10.2499;FS=0;InbreedingCoeff=-0.4258;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.352;SOR=0.734	GT:AD:DP:GQ:PL	0/1:8,44:57:17:980,0,17	2	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	6535.2	10	chr12	47845054	.	C	A	6535.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-1.626;DP=348;ExcessHet=0.1862;FS=5.896;InbreedingCoeff=0.2547;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=25.23;ReadPosRankSum=1.02;SOR=0.353	GT:AD:DP:GQ:PL	1/1:0,18:18:54:649,54,0	5	7	7	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	0.7895	28523.7	90	chr12	47879112	.	A	G	28523.7	.	AC=30;AF=0.789;AN=38;BaseQRankSum=-0.359;DP=1240;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=30;MLEAF=0.789;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0.867;SOR=0.663	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2318,216,0	1	12	6	0
chr12	47906043	47906043	T	C	intergenic	VDR;TMEM106C	dist=1049;dist=57504	.	.	.	1343	141	6	32	0	70	0.198864	.	.	.	3495322	Chronic_obstructive_pulmonary_disease	Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.177117	.	.	.	.	.	.	.	.	0.338981	8823	26028	rs4516035	0.5000	0.0111	.	0.5000	.	0.1708	0.1029	.	.	0	.	.	.	1.0000	.	0	.	.	0.3051	0.3053	0.3053	0.3050	0.4349	0.3028	0.3018	0.4307	0.4290	0.0855	0.4253	0.3082	0.3408	0.0224	0.4751	0.3793	0.4349	0.3149	0.2328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	129.79	.	chr12	47906043	.	T	C	129.79	.	AC=4;AF=0.25;AN=16;DP=18;ExcessHet=0;FS=0;InbreedingCoeff=0.3872;MLEAC=6;MLEAF=0.375;MQ=60;QD=25.96;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	2	0	11
chr12	114684071	114684071	-	GAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTC;NM_005996:c.-872_-871insTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	183	10	1	20	12	53	0.672131	.	.	.	329647	Ulnar-mammary_syndrome|not_provided|TBX3-related_disorder	MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.531749	.	.	.	.	.	.	.	.	0.000461	12	26028	rs112192237	0.3711	0.0814	0.3707	0.3715	0.4265	0.3674	0.3658	0.4036	0.3945	0.1648	0.4265	0.4241	0.3475	0.3793	0.4067	0.3834	0.3747	0.3964	0.4430	0.4427	0.4419	0.4441	0.6223	0.4401	0.4390	0.6117	0.6074	0.1855	0.3440	0.6223	0.6177	0.4456	0.4555	0.6092	0.5353	0.5029	0.5668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	666.07	2	chr12	114684071	.	G	GGAGA	666.07	.	AC=7;AF=0.389;AN=18;BaseQRankSum=0;DP=48;ExcessHet=0.0125;FS=0;InbreedingCoeff=0.3584;MLEAC=11;MLEAF=0.611;MQ=60;MQRankSum=0;QD=30.28;ReadPosRankSum=1.38;SOR=0.724	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	5	3	1	10
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	0.6053	34378.8	82	chr12	120978819	.	C	G	34378.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=0.693;DP=2079;ExcessHet=4.2649;FS=0;InbreedingCoeff=-0.2116;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=-0.18;SOR=0.675	GT:AD:DP:GQ:PL	0/1:82,60:142:99:1454,0,2043	2	6	11	0
chr12	120994314	120994314	G	C	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon4:c.G864C:p.G288G,HNF1A:NM_001306179:exon4:c.G864C:p.G288G	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	960	485	76	0	637	0.24912	.	.	YES	134682	Type_2_diabetes_mellitus|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	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:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|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	.	.	.	.	.	.	.	.	.	.	0.2358	0.18111	0.2788	0.2155	0.4862	0.0010	0.3177	0.3303	0.2558	0.1095	0.0467846	7233	154602	rs56348580	0.2836	0.2840	0.2896	0.2775	0.4254	0.2829	0.2826	0.4203	0.4181	0.2029	0.4254	0.3119	0.0011	0.2745	0.2413	0.3053	0.2696	0.1032	0.2624	0.2624	0.2679	0.2566	0.3670	0.2602	0.2593	0.3590	0.3557	0.2065	0.2297	0.3670	0.3111	0.0035	0.2655	0.2828	0.3009	0.2792	0.1005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.253030	0.277778	0.309783	0.222222	0.250000	0.206897	0.212963	0.162879	0.1579	9063.4	33	chr12	120994314	.	G	C	9063.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.99;DP=1414;ExcessHet=2.0135;FS=0.52;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.486;SOR=0.739	GT:AD:DP:GQ:PL	0/1:73,72:145:99:1477,0,2155	13	0	6	0
chr12	123253917	123253917	C	T	exonic	C12orf65	.	synonymous SNV	C12orf65:NM_001143905:exon2:c.C243T:p.C81C,C12orf65:NM_001194995:exon2:c.C243T:p.C81C,C12orf65:NM_152269:exon2:c.C243T:p.C81C	Combined oxidative phosphorylation deficiency 7, Autosomal recessive;Spastic paraplegia 55, autosomal recessive, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	140298	Combined_oxidative_phosphorylation_defect_type_7|Spastic_paraplegia|not_provided|Hereditary_spastic_paraplegia|not_specified	MONDO:MONDO:0013306,MedGen:C3150801,OMIM:613559,Orphanet:254930|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.00139776	0.0005	0.0028	0.0006	0	0	0.0001	0.0011	0.0008	0.0004334	67	154602	rs140411575	0.0002	0.0002	0.0002	0.0003	0.0042	0.0002	0.0002	0.0029	0.0024	0.0024	0.0004	0	0	3.744e-05	0.0042	0.0001	0.0005	0.0009	0.0008	0.0008	0.0007	0.0010	0.0024	0.0007	0.0007	0.0020	0.0019	0.0024	0	0.0006	0	0	0	0	0.0002	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1727.33	34	chr12	123253917	.	C	T	1727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=755;ExcessHet=0;FS=2.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.733;SOR=0.463	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1741,0,1276	18	0	1	0
chr12	123256943	123256943	A	G	exonic	C12orf65	.	nonsynonymous SNV	C12orf65:NM_001143905:exon3:c.A413G:p.K138R,C12orf65:NM_001194995:exon3:c.A413G:p.K138R,C12orf65:NM_152269:exon3:c.A413G:p.K138R	Combined oxidative phosphorylation deficiency 7, Autosomal recessive;Spastic paraplegia 55, autosomal recessive, Autosomal recessive	5	1507	10	0	0	10	0.00330688	.	.	YES	140299	Combined_oxidative_phosphorylation_defect_type_7|Hereditary_spastic_paraplegia|MTRFR-related_disorder|not_provided|not_specified|Spastic_paraplegia	MONDO:MONDO:0013306,MedGen:C3150801,OMIM:613559,Orphanet:254930|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.317	0.0071938769051	0.0011	0.00139776	0.0005	0.0027	0.0003	0	0	0.0001	0.0011	0.0008	0.000414	64	154602	rs147328685	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0030	0.0026	0.0024	0.0003	0	0	1.872e-05	0.0043	8.454e-05	0.0005	0.0009	0.0008	0.0008	0.0007	0.0010	0.0024	0.0007	0.0007	0.0020	0.0018	0.0024	0	0.0006	0	0	0	0	0.0002	0.0005	0.0010	0.077	0.34095	T	0.067	0.49942	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.045636	0.982538	0.39903	D	1.58	0.39772	L	2.76	0.36872	T	-1.38	0.34992	N	0.401	0.46928	-0.8001	0.55139	T	0.146	0.47074	T	10	0.012564033	0.00287	T	0.007194	0.19061	T	0.317	0.63904	.	.	0.556619688028	0.55322	0.29064813456327765	0.28977	0.0395402123316	0.04217	.	.	.	0.016958	0.19862	T	-0.0206502	0.48760	T	-0.267439	0.48078	T	0.0430072025669549	0.04238	T	0.70393	0.31399	T	0.13206269	0.30763	0.19950615	0.43835	0.13206269	0.30763	0.19950615	0.43834	-3.83	0.21253	T	0.24641855373276764	0.33374	0.103	0.19316	B	.;.;.;.	.;.;.;.	3.880964	0.56402	23.7	0.99724395311326375	0.82266	0.99604	0.97902	D	AEBI	0.910932	0.86952	D	0.797922432499068	0.85975	8.739654	0.808228605062644	0.90359	10.37167	0.999999608732579	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	8.885000	0.92067	9.105000	0.78787	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.546	0.67619	467	0.78285	Peptide chain release factor class I/class II;Peptide chain release factor class I/class II;.;Peptide chain release factor class I/class II	.	.	.	.	.	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	0.003543	0.000000	0.001359	0.003012	0.000000	0.000000	0.000000	0.011364	0.02632	1193.33	34	chr12	123256943	.	A	G	1193.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.664;DP=698;ExcessHet=0;FS=6.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=1.56;SOR=0.262	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1207,0,756	18	0	1	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	12459.2	32	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	12459.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.195;DP=701;ExcessHet=1.9883;FS=6.156;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=59.95;MQRankSum=0;QD=26.68;ReadPosRankSum=-0.79;SOR=0.372	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,25:39:99:.:.:1019,0,503:.	5	4	10	0
chr14	21385739	21385739	G	A	exonic	CHD8	.	synonymous SNV	CHD8:NM_001170629:exon38:c.C7620T:p.D2540D,CHD8:NM_020920:exon38:c.C6783T:p.D2261D	.	418	1100	4	0	0	4	0.00181488	.	.	.	194160	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000399361	0.0009	0	0	0	0	0.0014	0	0.0009	0.0002587	40	154602	rs367905297	0.0007	0.0006	0.0006	0.0007	0.0018	0.0006	0.0006	0.0010	0.0008	6.33e-05	0.0008	0.0042	0	0	0.0018	0.0006	0.0012	0.0010	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0004	9.673e-05	0.0044	0.0005	0.0052	0	0	0	0.0006	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002322	0.000000	0.000000	0.000000	0.000000	0.031250	0.000000	0.013333	0.02632	2595.33	34	chr14	21385739	.	G	A	2595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=889;ExcessHet=0;FS=0.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.66;SOR=0.754	GT:AD:DP:GQ:PL	0/1:102,99:201:99:2609,0,2495	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	13691.1	34	chr14	23419114	.	T	TG	13691.1	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.025;DP=1146;ExcessHet=1.8686;FS=1.819;InbreedingCoeff=-0.0857;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=17.53;ReadPosRankSum=0.539;SOR=0.55	GT:AD:DP:GQ:PL	0/1:42,33:75:99:1106,0,1473	10	1	8	0
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	.	254944	not_specified|not_provided|Premature_ovarian_failure_15|Spermatogenic_failure_28|Fanconi_anemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	2573.36	16	chr14	45159080	.	TTA	T	2573.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0;DP=550;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-0.252;SOR=0.66	GT:AD:DP:GQ:PL	0/1:31,4:35:49:49,0,1071	13	0	6	0
chr14	61740839	61740839	C	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon12:c.C1816T:p.P606S,HIF1A:NM_001530:exon12:c.C1744T:p.P582S,HIF1A:NM_181054:exon12:c.C1744T:p.P582S	.	426	797	258	41	0	340	0.175801	.	.	.	2736349	Cholangiocarcinoma|not_provided	Human_Phenotype_Ontology:HP:0030153,MONDO:MONDO:0019087,MeSH:D018281,MedGen:C0206698,Orphanet:70567|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.249	.	0.0877	0.0730831	0.0897	0.0381	0.0636	0.0437	0.0416	0.1068	0.1002	0.1139	0.0896301	13857	154602	rs11549465	0.0973	0.0973	0.0962	0.0983	0.1978	0.0968	0.0967	0.1883	0.1844	0.0355	0.0652	0.1605	0.0484	0.0413	0.1978	0.1014	0.1054	0.1100	0.0781	0.0782	0.0804	0.0757	0.1157	0.0769	0.0764	0.1077	0.1046	0.0361	0.1305	0.0843	0.1509	0.0481	0.0358	0.1599	0.1032	0.0970	0.1157	0.15	0.26300	T	0.107	0.37730	T	0.243	0.36725	B	0.225	0.42306	B	0.000163	0.48594	D	0.218644	0.004354	0.42787	P	0.2	0.09183	N	-1.98	0.85247	D	-3.12	0.67705	D	0.061	0.03502	-0.7937	0.55514	T	0.014	0.05561	T	9	0.002049476	0.00029	T	.	.	.	0.249	0.55752	.	.	.	.	0.2703759875243241	0.26950	0.18754449635	0.21074	0.613483905792	0.54808	T	0.791418	0.94585	D	-0.487373	0.00672	T	-0.386001	0.35020	T	0.0528159558020239	0.05987	T	0.89801	0.64352	D	0.20964694	0.43238	0.16643055	0.38449	0.20964694	0.43238	0.16643055	0.38448	-7.11	0.54832	T	.	.	0.105	0.27373	B	.;.;.;.;.	.;.;.;.;.	2.583508	0.33503	19.36	0.99454245710225975	0.65427	0.89101	0.49367	D	AEFDGBCI	0.388942	0.46836	N	-0.0795620720085574	0.38289	2.240306	0.0864541640548502	0.43865	2.679561	0.999999994130304	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	4.82	0.61641	2.789000	0.47504	3.324000	0.37570	0.594000	0.32500	0.799000	0.29708	1.000000	0.68203	0.997000	0.79791	0.1422:0.788:0.0:0.0698	9.682	0.39239	682	0.59757	.;.;.;.;.	FLJ22447|FLJ22447	Lung|Muscle_Skeletal	.	.	rs11549465	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	0.164653	0.121212	0.160326	0.228070	0.350000	0.232759	0.155488	0.143939	0.2368	22981.8	37	chr14	61740839	.	C	T	22981.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.447;DP=1945;ExcessHet=1.1637;FS=0.525;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.153;SOR=0.646	GT:AD:DP:GQ:PL	1/1:0,187:187:99:6273,562,0	11	1	7	0
chr14	67805304	67805304	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon8:c.G1184T:p.G395V	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1466	55	1	0	57	0.0190699	0	0	.	186196	ZFYVE26-related_disorder|not_provided|Hereditary_spastic_paraplegia_15|not_specified|Hereditary_spastic_paraplegia|Spastic_paraplegia	.|MedGen:C3661900|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:CN169374|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	0.0153934194612	0.0027	0.00319489	0.0037	0.0008	0.0018	0	0.0008	0.0039	0.0045	0.0088	0.0035769	553	154602	rs35512910	0.0035	0.0035	0.0032	0.0037	0.0170	0.0034	0.0033	0.0143	0.0133	0.0006	0.0022	0.0018	0	0.0005	0.0170	0.0033	0.0045	0.0090	0.0027	0.0027	0.0026	0.0028	0.0071	0.0025	0.0024	0.0052	0.0046	0.0007	0	0.0045	0.0012	0	0	0.0034	0.0039	0.0066	0.0071	0.222	0.22746	T	0.011	0.64786	D	0.045	0.21781	B	0.122	0.32387	B	0.009491	0.30337	N	0.362779	0.959685	0.38140	D	.	.	.	1.86	0.26588	T	-0.13	0.08971	N	0.165	0.32148	-1.0731	0.08745	T	0.038	0.16505	T	10	0.0025664866	0.00039	T	0.015393	0.36094	T	0.055	0.15663	.	.	0.227934060464	0.22382	0.16169291788472615	0.16090	0.205046829069	0.22922	0.395783305168	0.24482	T	0.007186	0.06605	T	-0.545574	0.00310	T	-0.550483	0.17280	T	0.00825396560210703	0.00099	T	0.391661	0.09743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15385	B	.;.	.;.	1.940681	0.24650	16.47	0.93319764922611348	0.23040	0.90446	0.51628	D	AEFGBI	0.377002	0.46094	N	-0.506721545602045	0.21862	1.163319	-0.299626435153439	0.28111	1.564814	0.928976482814212	0.26950	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	4.75	0.59954	1.480000	0.35072	4.234000	0.42669	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.1357:0.0:0.8643	10.034	0.41291	182	0.92924	.;.	.	.	.	.	.	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	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.009146	0.007576	0.1053	4325.43	33	chr14	67805304	.	C	A	4325.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.475;DP=952;ExcessHet=0.7564;FS=3.215;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.662;SOR=0.777	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1166,0,1351	15	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	28143.3	34	chr14	92071009	.	C	CG	28143.3	.	AC=20;AF=0.556;AN=36;BaseQRankSum=-0.448;DP=1450;ExcessHet=0.463;FS=1.302;InbreedingCoeff=0.0997;MLEAC=21;MLEAF=0.583;MQ=59.46;MQRankSum=0;QD=26.91;ReadPosRankSum=0.566;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,39:83:99:.:.:1022,0,1101:.	4	6	8	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	3235.81	15	chr14	95115562	.	G	A	3235.81	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.88;DP=273;ExcessHet=4.0818;FS=6.175;InbreedingCoeff=-0.2265;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=21.01;ReadPosRankSum=0.524;SOR=1.886	GT:AD:DP:GQ:PL	0/1:11,11:22:99:400,0,386	8	1	10	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	75303.4	194	chr15	59256276	.	C	T	75303.4	.	AC=38;AF=1;AN=38;BaseQRankSum=0.789;DP=2636;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=29.07;ReadPosRankSum=0.667;SOR=0.174	GT:AD:DP:GQ:PL	1/1:0,140:140:99:4190,419,0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	2338.57	7	chr15	68207979	.	G	GAC	2338.57	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.431;DP=87;ExcessHet=0.6653;FS=2.304;InbreedingCoeff=0.085;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=32.94;ReadPosRankSum=0.674;SOR=0.487	GT:AD:DP:GQ:PL	0/1:1,2:3:24:62,0,24	6	3	5	5
chr15	78513681	78513681	T	C	intronic	HYKK	.	.	.	.	1079	356	30	57	0	144	0.168224	.	.	YES	3495312	Chronic_obstructive_pulmonary_disease	Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.188898	.	.	.	.	.	.	.	.	0.275434	7169	26028	rs8034191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2722	0.2723	0.2756	0.2686	0.3510	0.2700	0.2691	0.3473	0.3458	0.1664	0.4068	0.2323	0.3453	0.0289	0.3321	0.4150	0.3510	0.2875	0.2353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	594.27	1	chr15	78513681	.	T	C	594.27	.	AC=8;AF=0.364;AN=22;DP=51;ExcessHet=0;FS=0;InbreedingCoeff=0.5853;MLEAC=11;MLEAF=0.5;MQ=60;QD=34.96;SOR=2.712	GT:AD:DP:GQ:PL	1/1:0,4:4:12:133,12,0	7	4	0	8
chr15	82538982	82538982	A	G	exonic	RPS17	.	synonymous SNV	RPS17:NM_001021:exon3:c.T159C:p.Y53Y	Diamond-Blackfan anemia 4, Autosomal dominant	21	707	596	198	0	992	0.412303	.	.	YES	409353	Diamond-Blackfan_anemia|not_specified	Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6991	0.3098	0.3099	0.3048	0.3149	0.4205	0.3091	0.3088	0.4169	0.4154	0.1579	0.1629	0.3116	0.2790	0.3769	0.3362	0.3093	0.3116	0.4205	0.2641	0.2643	0.2614	0.2669	0.4165	0.2619	0.2610	0.4013	0.3951	0.1651	0.3936	0.2043	0.2966	0.2364	0.3693	0.3605	0.3087	0.2768	0.4165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3421	16878.2	153	chr15	82538982	.	A	G	16878.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.375;DP=1603;ExcessHet=1.7862;FS=0.523;InbreedingCoeff=-0.0523;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.582;SOR=0.751	GT:AD:DP:GQ:PL	0/1:55,56:111:99:1279,0,1400	8	2	9	0
chr15	89316899	89316899	G	T	UTR3	FANCI	NM_001376910:c.*440G>T;NM_001113378:c.*440G>T;NM_001376911:c.*440G>T;NM_018193:c.*440G>T	.	.	Fanconi anemia, complementation group I	0	1455	61	6	0	73	0.024472	.	.	.	333243	Fanconi_anemia|POLG-Related_Spectrum_Disorders|Fanconi_anemia_complementation_group_I	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C4763519|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0007697	119	154602	rs1801377	0.0051	0.0051	0.0045	0.0057	0.0170	0.0050	0.0050	0.0162	0.0159	0.0005	0.0024	0.0011	5.341e-05	0.0033	0.0091	0.0047	0.0046	0.0170	0.0035	0.0035	0.0033	0.0038	0.0149	0.0033	0.0032	0.0122	0.0111	0.0004	0	0.0047	0.0012	0.0006	0.0039	0.0102	0.0046	0.0043	0.0149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3525.83	40	chr15	89316899	.	G	T	3525.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.19;DP=933;ExcessHet=0.119;FS=5.686;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.475;SOR=1.081	GT:AD:DP:GQ:PL	0/1:79,62:141:99:1783,0,2025	17	0	2	0
chr15	91005050	91005050	C	T	intronic	VPS33B	.	.	.	Arthrogryposis, renal dysfunction, and cholestasis 1, Autosomal recessive	0	1508	13	1	0	15	0.00494886	0.9884	0.932	.	340098	VPS33B-related_disorder|Arthrogryposis,_renal_dysfunction,_and_cholestasis_1|not_specified|not_provided	.|MONDO:MONDO:0008822,MedGen:C1859722,OMIM:208085,Orphanet:2697|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.00159744	0.0011	0.0003	0.0003	0	0	0.0001	0.0011	0.0070	0.0009185	142	154602	rs201431055	0.0005	0.0005	0.0003	0.0007	0.0072	0.0005	0.0005	0.0067	0.0065	2.987e-05	0.0002	3.826e-05	5.038e-05	0	0.0021	5.935e-05	0.0007	0.0072	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0001	0.0039	0.0034	2.404e-05	0	0	0	0	0	0	7.349e-05	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1685.33	41	chr15	91005050	.	C	T	1685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=761;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-1.433;SOR=0.582	GT:AD:DP:GQ:PL	0/1:72,64:136:99:1699,0,1644	18	0	1	0
chr15	98959855	98959855	A	-	UTR3	IGF1R	NM_001291858:c.*2413delA;NM_000875:c.*2413delA	.	.	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	1483	34	0	5	0	10	0.128205	.	.	.	333381	Growth_delay_due_to_insulin-like_growth_factor_I_resistance	MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.620008	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1187713192	0.4635	0.0657	0.4624	0.4647	0.4793	0.4592	0.4575	0.4738	0.4715	0.4168	0.4402	0.4591	0.4169	0.5417	0.4479	0.4793	0.4674	0.4723	0.6485	0.6476	0.6504	0.6465	0.7414	0.6451	0.6436	0.7360	0.7337	0.4885	0.5798	0.6248	0.6971	0.5006	0.7665	0.6310	0.7414	0.6552	0.6689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	57.82	.	chr15	98959854	.	TA	T	57.82	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=5;MLEAF=1;MQ=60;QD=28.91;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:52,6,0	0	1	0	18
chr16	8764843	8764843	-	CACA	intronic	ABAT	.	.	.	GABA-transaminase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	344198	Gamma-aminobutyric_acid_transaminase_deficiency	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163,Orphanet:2066	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	0.0079	0.0116	0.0557	0.0468	0.0213	0.0389	0.0855	0.0004995	13	26028	rs148949594	0.0275	0.0289	0.0252	0.0297	0.0897	0.0272	0.0271	0.0880	0.0873	0.0065	0.0148	0.0144	0.0565	0.0499	0.0234	0.0217	0.0303	0.0897	0.0263	0.0263	0.0224	0.0305	0.1041	0.0256	0.0254	0.0965	0.0935	0.0078	0.0177	0.0244	0.0183	0.0661	0.0613	0.0068	0.0249	0.0258	0.1041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	6336.45	43	chr16	8764843	.	G	GCACA	6336.45	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.625;DP=904;ExcessHet=7.7183;FS=1.886;InbreedingCoeff=-0.3579;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.511;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,25:27:12:1173,81,0	17	1	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2041.16	115	chr16	15725134	.	T	TA	2041.16	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.385;DP=2694;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6373;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.072;SOR=0.657	GT:AD:DP:GQ:PL	0/1:62,22:103:99:340,0,1299	11	0	8	0
chr16	15725150	15725150	C	A	UTR3	NDE1	NM_001143979:c.*899C>A;NM_017668:c.*899C>A	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	154	1238	45	15	70	145	0.0294002	.	.	.	324455	not_provided|Lissencephaly,_Recessive|Aortic_aneurysm,_familial_thoracic_4|Lissencephaly_4	MedGen:C3661900|MedGen:CN239458|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MONDO:MONDO:0013527,MedGen:C3151461,OMIM:614019,Orphanet:1083	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.140974	.	.	.	.	.	.	.	.	0.000461	12	26028	rs79015533	0.0957	0.0667	0.0953	0.0961	0.1452	0.0949	0.0945	0.1390	0.1365	0.1452	0.0530	0.0887	0.0802	0.0853	0.0694	0.0990	0.1044	0.0956	0.1110	0.1127	0.1142	0.1077	0.1506	0.1096	0.1090	0.1473	0.1459	0.1506	0.1333	0.0728	0.0914	0.0828	0.0719	0.0863	0.1073	0.1103	0.0984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3016.83	42	chr16	15725150	.	C	A	3016.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.91;DP=1168;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.847;SOR=0.723	GT:AD:DP:GQ:PL	0/1:60,67:127:99:1618,0,1406	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	3640.21	21	chr16	23445969	.	TA	T	3640.21	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.072;DP=876;ExcessHet=38.2876;FS=2.656;InbreedingCoeff=-0.8999;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=-0.114;SOR=0.889	GT:AD:DP:GQ:PL	0/1:14,9:35:99:134,0,319	1	0	18	0
chr16	30091839	30091839	C	A	intronic	TBX6	.	.	.	Spondylocostal dysostosis 5, Autosomal recessive, Autosomal dominant	1246	176	28	72	0	172	0.328244	.	.	YES	185945	not_specified|Spondylocostal_dysostosis_5	MedGen:CN169374|MONDO:MONDO:0007389,MedGen:C4083048,OMIM:122600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.462061	.	.	.	.	.	.	.	.	0.423506	11023	26028	rs3809627	0.3478	0.0657	0.3200	0.3582	0.5000	0.2795	0.2547	0.2790	0.2465	0.2000	0	0.5000	0.5000	.	.	0.3725	0.3750	0.3276	0.4146	0.4149	0.4083	0.4212	0.5713	0.4119	0.4108	0.5541	0.5471	0.3471	0.3575	0.4821	0.4622	0.5713	0.4831	0.4388	0.4110	0.4262	0.4861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	109.0	.	chr16	30091839	.	C	A	109.0	.	AC=2;AF=0.111;AN=18;DP=20;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=60;QD=31.76;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:121,9,0	8	1	0	10
chr16	46689659	46689659	G	A	UTR5	ORC6	NM_014321:c.-47G>A	.	.	Meier-Gorlin syndrome 3, Autosomal recessive	0	1464	52	6	0	64	0.0213904	.	.	.	255744	Meier-Gorlin_syndrome_3|Meier-Gorlin_syndrome|Parkinson_Disease,_Dominant|not_specified	MONDO:MONDO:0013430,MedGen:C3151113,OMIM:613803,Orphanet:2554|MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554|MedGen:CN239359|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.00259585	0.0113	0.0009	0.0113	0	0	0.0182	0.0104	0.0090	0.0033635	520	154602	rs144065502	0.0036	0.0036	0.0034	0.0039	0.0318	0.0035	0.0035	0.0280	0.0266	0.0009	0.0038	0.0317	0	0.0002	0.0318	0.0028	0.0064	0.0072	0.0034	0.0034	0.0035	0.0034	0.0068	0.0032	0.0031	0.0050	0.0044	0.0004	0.0417	0.0042	0.0285	0	0.0005	0.0170	0.0037	0.0038	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2741.83	41	chr16	46689659	.	G	A	2741.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.02;DP=839;ExcessHet=0.119;FS=0.502;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.803;SOR=0.635	GT:AD:DP:GQ:PL	0/1:43,59:102:99:1456,0,950	17	0	2	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	0.2632	15622.2	129	chr16	56511263	.	T	C	15622.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-0.303;DP=1545;ExcessHet=1.8686;FS=0;InbreedingCoeff=-0.0857;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.962;SOR=0.678	GT:AD:DP:GQ:PL	1/1:0,127:127:99:3968,381,0	10	1	8	0
chr16	88721421	88721421	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon39:c.C5413T:p.L1805F	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	269	1247	6	0	0	6	0.0024	.	.	.	740458	not_provided|PIEZO1-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.73882842185	.	0.000399361	0.0019	0	0	0	0	0.0001	0	0.0045	0.0002911	45	154602	rs201769196	0.0003	0.0003	0.0002	0.0004	0.0053	0.0003	0.0003	0.0038	0.0033	0.0003	0.0004	0	0	0	0.0053	0.0002	0.0003	0.0026	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	7.22e-05	0	0.0004	0	0	0	0.0034	0.0002	0.0009	0.0017	0.068	0.35726	T	0.004	0.74150	D	0.879	0.48338	P	0.37	0.43538	B	0.000001	0.84330	D	0.000000	0.999806	0.49283	D	3.485	0.92608	M	-1.37	0.80214	T	-3.14	0.64019	D	0.397	0.43803	-0.2416	0.76584	T	0.389	0.74371	T	10	0.027090877	0.00862	T	0.738828	0.97906	D	0.575	0.82799	.	.	0.449421072434	0.44565	0.6827595709860058	0.68214	.	.	0.648559808731	0.59782	T	0.139977	0.47429	T	-0.216901	0.18416	T	-0.0873899	0.64357	T	0.17873671310832	0.19156	T	0.948805	0.80311	D	0.2798853	0.51037	0.18915688	0.42247	0.2798853	0.51037	0.18915688	0.42246	-9.675	0.71944	D	0.8060606039285848	0.88191	0.667	0.71623	P	.	.	3.810672	0.54964	23.6	0.99596550939522499	0.73925	0.93127	0.57397	D	AEFDBCI	0.545019	0.55970	D	0.336220576434354	0.58017	3.971594	0.342186202661793	0.58040	3.972206	0.999427470725161	0.39630	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	3.359000	0.52012	11.457000	0.92815	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.296000	0.24405	0.0851:0.0:0.9149:0.0	12.226	0.53771	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	.	.	.	.	.	.	.	.	0.02632	1179.33	80	chr16	88721421	.	G	A	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=1178;ExcessHet=0;FS=8.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.074;SOR=1.096	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1193,0,1301	18	0	1	0
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	50	1018	318	136	0	590	0.224676	.	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1199.31	27	chr16	89816740	.	A	AGGCCTTGCGTCGT	1199.31	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.637;DP=275;ExcessHet=0.6689;FS=2.854;InbreedingCoeff=0.0466;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.546;SOR=0.33	GT:AD:DP:GQ:PL	0/1:7,4:11:99:147,0,282	12	1	6	0
chr16	89920138	89920138	G	C	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.G880C:p.D294H	.	0	1516	6	0	0	6	0.00197498	.	.	.	29346	not_provided|Skin_and_Hair_Hypopigmentation|Skin/hair/eye_pigmentation_2,_red_hair/fair_skin|Melanoma,_cutaneous_malignant,_susceptibility_to,_5|Melanoma|MC1R-related_disorder|Tyrosinase-positive_oculocutaneous_albinism	MedGen:C3661900|.|MedGen:C4016260|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618|Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|.|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.608	.	0.0161	0.00339457	0.0086	0.0039	0.0053	0	0.0017	0.0138	0.0022	0	0.0094565	1462	154602	rs1805009	0.0188	0.0188	0.0195	0.0181	0.0231	0.0186	0.0185	0.0229	0.0228	0.0027	0.0074	0.0022	0	0.0023	0.0021	0.0231	0.0193	4.637e-05	0.0109	0.0109	0.0121	0.0096	0.0182	0.0105	0.0103	0.0174	0.0171	0.0041	0.0242	0.0116	0.0012	0	0.0017	0.0068	0.0182	0.0109	0	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.495821	0.12006	U	0.597033	1	0.81001	A	3.515	0.92918	H	-0.81	0.73949	T	-5.82	0.88289	D	0.93	0.93605	0.247	0.86690	D	0.534	0.82753	D	9	0.010107994	0.00226	T	.	.	.	0.608	0.84613	.	.	0.930657518498	0.92995	0.8094792254718528	0.80902	0.133385184483	0.15022	.	.	.	0.461529	0.79826	T	0.0820629	0.62282	D	0.362021	0.90778	D	0.0635207038569535	0.07711	T	0.844516	0.52185	T	0.88329774	0.89941	0.8520149	0.91639	0.88329774	0.89942	0.8520149	0.91639	-8.324	0.63257	D	0.7638128185338426	0.84542	0.704	0.79004	P	.;.;.;.	.;.;.;.	4.702793	0.75465	26.3	0.99586935520299591	0.73336	0.97386	0.74420	D	AEFDBCI	0.938258	0.93719	D	0.91410285539905	0.92432	11.42054	0.841342499883961	0.92501	11.46247	1.0	0.98316	0.660377	0.49826	0	0.610034	0.51514	0	0.654045	0.52621	0	0.592323	0.36904	0	.	.	5.27	5.27	0.73797	9.844000	0.98359	7.427000	0.58761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	17.881	0.88756	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	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	0.002518	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	4137.33	42	chr16	89920138	.	G	C	4137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=1221;ExcessHet=0;FS=0.824;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.533;SOR=0.747	GT:AD:DP:GQ:PL	0/1:171,163:334:99:4151,0,4068	18	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	.	.	.	.	.	.	.	.	0.3947	1453.09	136	chr17	3648932	.	G	C	1453.09	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.833;DP=2002;ExcessHet=20.8569;FS=327.302;InbreedingCoeff=-0.6585;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.11;SOR=11.838	GT:AD:DP:GQ:PL	0/1:65,34:109:99:101,0,833	4	0	15	0
chr17	17236983	17236983	G	A	UTR5	FLCN	NM_001353230:c.-8846C>T;NM_001353231:c.-8846C>T;NM_001353229:c.-8846C>T;NM_144997:c.-8846C>T;NM_144606:c.-8846C>T	.	.	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	1210	212	32	68	0	168	0.283784	.	.	.	343588	not_provided|Colorectal_cancer|Nonpapillary_renal_cell_carcinoma|Birt-Hogg-Dube_syndrome_1|Familial_spontaneous_pneumothorax|Birt-Hogg-Dube_syndrome|FLCN-related_disorder	MedGen:C3661900|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.428315	.	.	.	.	.	.	.	.	0.458737	11940	26028	rs1708629	0.5833	0.0231	0.6667	0.5333	0.5870	0.4146	0.3578	0.4143	0.3564	.	.	.	.	.	.	0.5870	0.5000	.	0.4523	0.4525	0.4452	0.4599	0.6252	0.4495	0.4483	0.6072	0.5999	0.1501	0.6897	0.5279	0.5265	0.6252	0.7318	0.3537	0.5601	0.4360	0.4094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3182	513.35	.	chr17	17236983	.	G	A	513.35	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-0.967;DP=40;ExcessHet=0;FS=0;InbreedingCoeff=0.5112;MLEAC=10;MLEAF=0.455;MQ=60;MQRankSum=0;QD=27.08;ReadPosRankSum=0;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,2:2:6:.:.:86,6,0:.	7	3	1	8
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	9986.06	19	chr17	18130817	.	A	AGT	9986.06	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0;DP=1961;ExcessHet=0.7564;FS=2.674;InbreedingCoeff=-0.1176;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=-0.267;SOR=0.411	GT:AD:DP:GQ:PL	0/1:4,16:34:33:523,40,135	10	0	9	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	0.3421	15712.2	129	chr17	19909228	.	T	C	15712.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-0.399;DP=1420;ExcessHet=1.7862;FS=1.103;InbreedingCoeff=-0.0523;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.447;SOR=0.638	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1148,0,1427	8	2	9	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	81486.4	356	chr17	21300880	.	C	T	81486.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.85;DP=4853;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=0.156;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,106:238:99:0|1:21300875_G_T:3996,0,5063:21300875	0	0	19	0
chr17	39665718	39665718	G	T	exonic	TCAP	.	nonsynonymous SNV	TCAP:NM_003673:exon2:c.G113T:p.C38F	Cardiomyopathy, hypertrophic, 25, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2G, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	198471	not_specified|Cardiovascular_phenotype|Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_25|Hypertrophic_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2G|not_provided	MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0011843,MedGen:C4225408,OMIM:607487|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0011170,MedGen:C1866008,OMIM:601954,Orphanet:34514|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.637	0.158703312849	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0	0	0.00011	17	154602	rs375310569	0.0001	0.0001	0.0001	8.834e-05	0.0047	8.742e-05	8.227e-05	0.0033	0.0028	8.969e-05	0.0002	0	2.523e-05	0	0.0047	9.184e-05	8.305e-05	0	7.224e-05	7.218e-05	7.71e-05	6.715e-05	0.0002	3.969e-05	3.126e-05	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0.0034	7.353e-05	0.0009	0	0.523	0.07187	T	0.397	0.15157	T	0.988	0.62325	D	0.898	0.63708	P	0.000009	0.62929	D	0.122062	0.999991	0.58761	D	2.125	0.59049	M	-2.36	0.88143	D	-5.08	0.82896	D	0.296	0.48227	0.367	0.88593	D	0.674	0.88714	D	10	0.4545699	0.58909	T	0.158703	0.83904	D	0.637	0.86130	.	.	0.974897511524	0.97462	0.3451868843676257	0.34432	1.17954550711	0.79986	0.476928323507	0.35634	T	0.816411	0.95465	D	-0.0433708	0.45447	T	0.00164578	0.70442	D	0.374176114797592	0.27959	T	0.731927	0.34732	T	0.56536424	0.70806	0.5012083	0.71164	0.56536424	0.70807	0.5012083	0.71165	-3.397	0.15016	T	0.18647059994476767	0.24273	0.156	0.39664	B	.;.	.;.	4.210710	0.63609	24.6	0.84880132744283354	0.15552	0.87571	0.47154	D	AEFDGBHCI	0.927577	0.91046	D	0.403266126143953	0.61602	4.363518	0.429661888079662	0.63419	4.575476	0.999999999999735	0.74766	0.62174	0.39705	0	0.759151	0.99529	0	0.584781	0.30282	0	0.599892	0.37169	0	.	.	5.71	5.71	0.89031	2.978000	0.48996	8.639000	0.77885	0.676000	0.76740	0.960000	0.33603	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	18.616	0.91258	632	0.64850	.;.	.	.	.	.	.	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	0.005247	0.000000	0.001362	0.023179	0.000000	0.008772	0.000000	0.000000	0.05263	1392.83	44	chr17	39665718	.	G	T	1392.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.522;DP=769;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.339;SOR=0.648	GT:AD:DP:GQ:PL	0/1:37,35:72:99:924,0,1052	17	0	2	0
chr17	50197978	50197978	G	C	exonic	COL1A1	.	nonsynonymous SNV	COL1A1:NM_000088:exon8:c.C613G:p.P205A	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	0	1504	18	0	0	18	0.00594845	.	.	YES	215539	Ehlers-Danlos_syndrome,_arthrochalasia_type|Osteogenesis_imperfecta|Infantile_cortical_hyperostosis|Osteogenesis_imperfecta_type_I|Connective_tissue_disorder|not_specified|Cardiovascular_phenotype|not_provided|Ehlers-Danlos_syndrome	MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060,Orphanet:1899,Orphanet:99875,Orphanet:99876|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000,Orphanet:1310|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.602	0.0403897260851	0.0041	0.00179712	0.0036	0.0014	0.0006	0	0.0021	0.0050	0.0011	0.0040	0.0035122	543	154602	rs72667032	0.0051	0.0051	0.0051	0.0051	0.0059	0.0050	0.0050	0.0058	0.0058	0.0008	0.0008	0.0027	0	0.0021	0.0024	0.0059	0.0046	0.0045	0.0033	0.0033	0.0034	0.0032	0.0050	0.0031	0.0030	0.0045	0.0043	0.0013	0.0208	0.0013	0.0037	0.0002	0.0035	0	0.0050	0.0024	0.0048	0.236	0.17940	T	0.092	0.39954	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999859	0.49910	D	.	.	.	-4.05	0.96496	D	-3.99	0.73893	D	0.753	0.75192	0.429	0.89525	D	0.755	0.91641	D	10	0.026518553	0.00816	T	0.04039	0.59348	D	0.602	0.84291	.	.	0.959868584311	0.95944	0.5582512967563458	0.55752	0.544322101214	0.51483	0.65260720253	0.60356	T	.	.	.	-0.0113856	0.50071	T	0.212788	0.83808	D	0.0795630267393425	0.09930	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00011	B	.	.	2.829041	0.37287	20.5	0.93909509931218083	0.23944	0.92327	0.55456	D	AEFBCI	0.712180	0.66538	D	-0.0641915890927482	0.38971	2.291	0.0523499452591589	0.42186	2.547244	0.999999985969376	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.620976	0.48614	0	.	.	4.38	3.37	0.37692	6.404000	0.73190	6.596000	0.56041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1599:0.8401:0.0	13.371	0.60157	896	0.25515	.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	955.33	34	chr17	50197978	.	G	C	955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.965;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.807;SOR=0.712	GT:AD:DP:GQ:PL	0/1:45,39:84:99:969,0,1349	18	0	1	0
chr17	75740079	75740079	C	T	intronic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	3	1517	2	0	0	2	0.000658762	0.0001	0.032	.	2886934	Epidermolysis_bullosa,_junctional_5A,_intermediate|Junctional_epidermolysis_bullosa_with_pyloric_atresia|not_provided	MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	1.022e-05	0	0	0	0	1.839e-05	0	0	6.5e-06	1	154602	rs772734108	3.917e-05	4.104e-05	3.553e-05	4.286e-05	0.0002	3.061e-05	2.796e-05	2.921e-05	2.596e-05	0	0	0	0	0	0.0002	3.877e-05	0.0002	2.334e-05	2.626e-05	2.625e-05	3.854e-05	1.342e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.404e-05	0	0	0	0	0	0.0034	2.94e-05	0	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	.	.	.	.	.	.	.	.	0.02632	717.33	33	chr17	75740079	.	C	T	717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=642;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.426;SOR=0.756	GT:AD:DP:GQ:PL	0/1:28,23:51:99:731,0,708	18	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	0.4737	45904.2	42	chr17	80184196	.	G	A	45904.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.991;DP=2784;ExcessHet=1.9883;FS=0;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=-0.47;SOR=0.665	GT:AD:DP:GQ:PL	0/1:80,78:158:99:2070,0,2249	5	4	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8421	62918.4	187	chr17	80184264	.	G	A	62918.4	.	AC=32;AF=0.842;AN=38;BaseQRankSum=-0.35;DP=2370;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.2083;MLEAC=32;MLEAF=0.842;MQ=60;MQRankSum=0;QD=27.99;ReadPosRankSum=0.48;SOR=0.776	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1599,0,1562	1	14	4	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	.	.	.	.	.	.	.	.	0.4737	26991.2	139	chr17	80202434	.	T	A	26991.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.364;DP=1567;ExcessHet=0.463;FS=1.308;InbreedingCoeff=0.1556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=0.691;SOR=0.58	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1311,0,1580	6	5	8	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	0.4474	45386.8	286	chr17	80205094	.	C	T	45386.8	.	AC=17;AF=0.447;AN=38;BaseQRankSum=0.493;DP=2511;ExcessHet=0.1862;FS=0;InbreedingCoeff=0.2549;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=20.54;ReadPosRankSum=0.31;SOR=0.696	GT:AD:DP:GQ:PL	0/1:92,77:169:99:2017,0,3528	7	5	7	0
chr18	46533320	46533320	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001308013:exon8:c.C596T:p.A199V,LOXHD1:NM_001145472:exon10:c.C884T:p.A295V,LOXHD1:NM_001384474:exon28:c.C4217T:p.A1406V,LOXHD1:NM_144612:exon28:c.C4217T:p.A1406V	Deafness, autosomal recessive 77, Autosomal recessive	0	1467	52	3	0	58	0.019385	.	.	.	176700	Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified|not_provided	MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.216	.	0.0015	0.00638978	0.0079	0	0.01	0.0015	0	0.0026	0.0081	0.0187	0.0016817	260	154602	rs146739496	0.0025	0.0024	0.0021	0.0030	0.0158	0.0025	0.0024	0.0151	0.0148	0.0006	0.0021	0.0008	2.798e-05	0.0001	0.0135	0.0018	0.0034	0.0158	0.0020	0.0020	0.0019	0.0020	0.0164	0.0018	0.0017	0.0135	0.0124	0.0003	0.0011	0.0025	0.0009	0.0004	9.413e-05	0.0136	0.0023	0.0028	0.0164	0.029	0.45756	D	0.034	0.83351	D	0.905	0.49920	P	0.475	0.46927	P	0.021595	0.26803	N	0.419031	0.98616	0.40390	D	.	.	.	-0.1	0.64264	T	-1.98	0.45769	N	0.053	0.12770	-0.7687	0.56929	T	0.128	0.43503	T	10	0.0068620443	0.00156	T	.	.	.	0.216	0.50959	.	.	0.208000267992	0.20380	0.46809233412506684	0.46728	.	.	0.294937849045	0.09649	T	0.020119	0.80719	T	-0.525645	0.00407	T	-0.514204	0.20885	T	0.0791777662224257	0.09881	T	0.891911	0.66064	D	0.110194	0.26050	0.24893135	0.50454	0.1610283	0.36083	0.20420283	0.44533	-7.861	0.60119	D	.	.	0.162	0.38569	B	.;.;.;.;.;.	.;.;.;.;.;.	4.329512	0.66332	24.9	0.98795692942184155	0.46365	0.98819	0.87269	D	AEFBI	0.920127	0.89165	D	0.224203404375447	0.52375	3.41199	0.406273072246657	0.61956	4.403134	0.99999999711226	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	9.567000	0.97303	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.664000	0.33081	0.0:0.0:1.0:0.0	19.339	0.94320	946	0.12043	PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 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	0.011933	0.005208	0.016393	0.008929	0.000000	0.058824	0.005747	0.011628	0.05263	2417.83	34	chr18	46533320	.	G	A	2417.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.108;DP=765;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.876;SOR=0.672	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1136,0,1133	17	0	2	0
chr18	49581514	49581514	C	T	exonic	LIPG	.	nonsynonymous SNV	LIPG:NM_001308006:exon5:c.C671T:p.T224I,LIPG:NM_006033:exon6:c.C893T:p.T298I	.	420	1095	5	0	2	7	0.0022779	.	.	.	2778281	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.597	0.368870238787	.	.	8.237e-05	9.61e-05	0	0	0	2.997e-05	0	0.0004	6.47e-05	10	154602	rs61729805	6.225e-05	6.225e-05	3.539e-05	8.938e-05	0.0009	5.161e-05	4.78e-05	0.0007	0.0006	0	0	3.826e-05	0	0	0.0009	7.194e-06	6.623e-05	0.0008	2.626e-05	2.625e-05	0	5.371e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.01	0.58626	D	0.084	0.54541	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.091955	0.999997	0.58761	D	2.725	0.79712	M	-2.83	0.91249	D	-3.92	0.73893	D	0.596	0.68777	0.807	0.94495	D	0.822	0.94005	D	10	0.5833216	0.65971	D	0.36887	0.92696	D	0.597	0.84019	0.452	0.51448	0.984123797572	0.98395	0.6409472262836828	0.64029	1.14500881374	0.79049	0.683301985264	0.64743	T	0.653193	0.89501	D	-0.101521	0.36172	T	-0.00775951	0.69831	D	0.745838344097137	0.43054	D	0.863014	0.67021	D	0.7245936	0.79418	0.4753445	0.69597	0.7245936	0.79420	0.4753445	0.69597	-7.525	0.57786	D	.	.	0.448	0.62127	A	.;.;.;.	.;.;.;.	3.923281	0.57294	23.8	0.99900889815057647	0.97275	0.92366	0.55545	D	AEFDBCI	0.777923	0.71058	D	0.595003591664292	0.72862	5.87297	0.558233521088791	0.71973	5.736989	0.999999997857011	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.79	4.9	0.63643	4.919000	0.63082	2.184000	0.31153	-0.218000	0.08083	1.000000	0.71638	0.975000	0.29991	0.828000	0.39026	0.0:0.8709:0.1291:0.0	16.773	0.85403	912	0.21483	Lipase/vitellogenin|Lipase, N-terminal;Lipase/vitellogenin|Lipase, N-terminal;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1274.33	33	chr18	49581514	.	C	T	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.563;DP=751;ExcessHet=0;FS=5.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.261;SOR=0.875	GT:AD:DP:GQ:PL	0/1:71,55:126:99:1288,0,1948	18	0	1	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	2	910	527	83	0	693	0.275766	.	.	.	15589	not_provided|Jaundice|Erythema|not_specified|Protoporphyria,_erythropoietic,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:CN169374|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	5992.17	36	chr18	57580222	.	G	A	5992.17	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.476;DP=678;ExcessHet=0.0419;FS=1.188;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=22.19;ReadPosRankSum=-0.655;SOR=0.808	GT:AD:DP:GQ:PL	0/1:23,30:53:99:887,0,585	13	2	4	0
chr19	15525356	15525356	G	A	exonic	CYP4F22	.	nonsynonymous SNV	CYP4F22:NM_173483:exon3:c.G20A:p.R7H	Ichthyosis, congenital, autosomal recessive 5, Autosomal recessive	3	1512	7	0	0	7	0.00230947	.	.	.	506582	Autosomal_recessive_congenital_ichthyosis_5|not_provided|not_specified	Gene:50992,MONDO:MONDO:0011485,MedGen:C1858133,OMIM:604777,Orphanet:313|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.00616451452715	0.0002	0.00119808	0.0011	9.696e-05	8.697e-05	0	0.0002	0.0007	0	0.0047	0.0009832	152	154602	rs202066269	0.0005	0.0005	0.0004	0.0007	0.0059	0.0005	0.0005	0.0043	0.0038	8.961e-05	0.0002	0.0055	0	3.773e-05	0.0059	0.0002	0.0011	0.0039	0.0005	0.0005	0.0005	0.0006	0.0029	0.0004	0.0004	0.0018	0.0014	0.0001	0	0.0002	0.0058	0.0002	0	0.0034	0.0004	0.0028	0.0029	0.772	0.03363	T	0.603	0.07868	T	0.0	0.02946	B	0.0	0.01387	B	0.854681	0.08938	N	0.925749	1	0.08975	N	-1.245	0.00777	N	-0.55	0.71068	T	0.91	0.01595	N	0.098	0.07949	-1.0435	0.16265	T	0.111	0.39888	T	10	0.008422613	0.00191	T	0.006165	0.16141	T	0.053	0.14996	.	.	0.0954503805726	0.09146	0.3737645901700208	0.37290	0.272406653142	0.29750	0.242505371571	0.03020	T	0.052593	0.29206	T	-0.56562	0.00235	T	-0.58577	0.14035	T	0.00914397761913591	0.00115	T	0.246475	0.03619	T	0.026918149	0.01812	0.026765816	0.00784	0.021860417	0.00811	0.024871074	0.00515	-4.54	0.31408	T	.	.	0.079	0.08417	B	.;.	.;.	-0.145441	0.03381	0.605	0.18114054731760973	0.00556	0.00261	0.01428	N	AEFDBI	0.020103	0.00760	N	-1.42723532186287	0.02402	0.106015	-1.4320626275323	0.02936	0.1360367	1.08047051158559E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.69	-1.38	0.08554	-0.462000	0.06781	.	.	-0.063000	0.16611	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.4314:0.1541:0.2655:0.1489	0.989	0.01360	556	0.71678	.;.	.	.	.	.	.	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	0.006546	0.005051	0.004076	0.014620	0.000000	0.017241	0.003049	0.003788	0.02632	811.33	34	chr19	15525356	.	G	A	811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.968;DP=668;ExcessHet=0;FS=1.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.631;SOR=0.95	GT:AD:DP:GQ:PL	0/1:20,29:49:99:825,0,449	18	0	1	0
chr19	35299590	35299590	C	T	exonic	MAG	.	nonsynonymous SNV	MAG:NM_001199216:exon5:c.C377T:p.A126V,MAG:NM_002361:exon5:c.C452T:p.A151V,MAG:NM_080600:exon5:c.C452T:p.A151V	Spastic paraplegia 75, autosomal recessive, Autosomal recessive	424	1080	18	0	0	18	0.00826446	.	.	.	411594	Hereditary_spastic_paraplegia_75|Hereditary_spastic_paraplegia|not_provided|MAG-related_disorder	MONDO:MONDO:0014729,MedGen:C4225250,OMIM:616680,Orphanet:459056|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.370	0.317900383162	0.0037	0.00239617	0.0044	0.0016	0.0022	0.0001	0.0011	0.0058	0.0061	0.0060	0.0042173	652	154602	rs144553163	0.0054	0.0055	0.0053	0.0055	0.0063	0.0053	0.0053	0.0062	0.0062	0.0011	0.0019	0.0003	0	0.0010	0.0049	0.0063	0.0042	0.0051	0.0040	0.0040	0.0043	0.0036	0.0070	0.0037	0.0036	0.0065	0.0063	0.0014	0	0.0022	0.0003	0	0.0008	0.0034	0.0070	0.0005	0.0048	0.071	0.39575	T	0.101	0.38596	T	0.98	0.59353	D	0.782	0.57384	P	0.000053	0.53742	D	0.163867	0.784419	0.36625	D	1.355	0.33814	L	3.78	0.76037	T	-1.62	0.38924	N	0.123	0.11483	-0.5098	0.68294	T	0.274	0.64598	T	10	0.009121209	0.00206	T	0.318	0.91385	D	0.370	0.68930	.	.	0.64536359344	0.64243	0.5643018623974551	0.56357	0.478096384883	0.46899	0.549512326717	0.45789	T	0.285052	0.65784	T	-0.329821	0.06126	T	-0.241976	0.50606	T	0.0173554213605452	0.00474	T	0.805919	0.45429	T	0.21897237	0.44417	0.21848269	0.46553	0.24647926	0.47617	0.209051	0.45232	-6.183	0.48991	T	0.1177093208259177	0.10783	0.160	0.45871	B	.;.;.;.;.	.;.;.;.;.	3.563521	0.50150	22.9	0.99918718692552411	0.98586	0.49487	0.28444	N	AEFDBCI	0.195368	0.32240	N	0.0741978033257675	0.45262	2.785641	0.0888800289740042	0.43988	2.689319	0.999999340276584	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	4.57	4.57	0.55860	2.345000	0.43675	2.654000	0.33835	0.533000	0.24879	0.991000	0.37257	0.984000	0.30665	0.986000	0.61781	0.0:1.0:0.0:0.0	14.866	0.70049	923	0.18507	.;CD80-like, immunoglobulin C2-set|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	0.005051	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.011450	0.02632	647.33	33	chr19	35299590	.	C	T	647.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=682;ExcessHet=0;FS=1.252;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.155;SOR=0.941	GT:AD:DP:GQ:PL	0/1:18,21:39:99:661,0,446	18	0	1	0
chr19	44908684	44908684	T	C	exonic	APOE	.	nonsynonymous SNV	APOE:NM_000041:exon4:c.T388C:p.C130R,APOE:NM_001302688:exon4:c.T466C:p.C156R,APOE:NM_001302689:exon4:c.T388C:p.C130R,APOE:NM_001302690:exon4:c.T388C:p.C130R,APOE:NM_001302691:exon4:c.T388C:p.C130R	Alzheimer disease-2, Autosomal dominant;Hyperlipoproteinemia, type III;Lipoprotein glomerulopathy;Sea-blue histiocyte disease, Autosomal recessive	1	1361	149	11	0	171	0.0591082	.	.	YES	32903	Warfarin_response|Alzheimer_disease_2|Lipoprotein_glomerulopathy|not_specified|Alzheimer_disease_4|Primary_degenerative_dementia_of_the_Alzheimer_type,_presenile_onset|not_provided|Alzheimer_disease	MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700|MONDO:MONDO:0007089,MedGen:C1863051,OMIM:104310,Orphanet:1020|MONDO:MONDO:0012725,MedGen:C2673196,OMIM:611771,Orphanet:329481|MedGen:CN169374|MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889,Orphanet:1020|MedGen:C5779573|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other|risk_factor	.	.	.	.	.	.	.	.	0.229	.	0.1416	0.150559	0.1843	0.2732	0.2145	0.1504	0.3266	0.2078	0.1706	0.1102	0.0990673	15316	154602	rs429358	0.1476	0.1464	0.1493	0.1458	0.2266	0.1470	0.1468	0.2223	0.2205	0.2266	0.1043	0.1205	0.0979	0.1912	0.0681	0.1514	0.1393	0.1004	0.1574	0.1574	0.1542	0.1607	0.2157	0.1557	0.1550	0.2120	0.2104	0.2157	0.1363	0.1133	0.1191	0.0977	0.1952	0.0685	0.1379	0.1148	0.1046	1.0	0.00964	T	0.829	0.03728	T	0.0	0.02946	B	0.001	0.04355	B	0.148941	0.18033	N	0.486559	1	0.08975	P	-1.465	0.00537	N	-0.24	0.80899	T	4.36	0.00049	N	0.051	0.02272	-1.0126	0.26101	T	0.000	0.00011	T	9	0.0037242472	0.00069	T	.	.	.	0.229	0.52916	.	.	.	.	0.594833485195711	0.59413	1.05397380339	0.76260	0.549231410027	0.45749	T	0.098671	0.40272	T	-0.475948	0.00781	T	-0.312622	0.43376	T	0.000220162258131143	0.00001	T	0.241876	0.03871	T	0.21238507	0.43588	0.19668251	0.43410	0.31240633	0.53993	0.24847607	0.50398	1.131	0.00116	T	0.021989899378371917	0.00011	0.036	0.00009	B	.;.;.;.	.;.;.;.	1.966721	0.24982	16.60	0.21739704419042166	0.00842	0.01144	0.04144	N	AEFDBCI	0.230364	0.35375	N	-1.33018657744613	0.03335	0.1487916	-1.15728233661909	0.06638	0.3201928	0.193817606357278	0.18033	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.25	3.02	0.33970	0.840000	0.27253	.	.	-0.256000	0.07045	0.892000	0.31242	1.000000	0.68203	0.485000	0.28678	0.1694:0.5443:0.1863:0.1001	3.038	0.05759	889	0.27310	.;.;.;.	APOC1|APOC1|CTB-129P6.4|CTB-171A8.1	Adrenal_Gland|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid	APOE|TOMM40|TOMM40	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum	.	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	0.088660	0.102151	0.067123	0.107143	0.100000	0.070175	0.083333	0.090909	0.02632	1078.33	33	chr19	44908684	.	T	C	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.759;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.443;SOR=0.715	GT:AD:DP:GQ:PL	0/1:27,42:69:99:1092,0,686	18	0	1	0
chr19	46755791	46755791	C	G	exonic	FKRP	.	nonsynonymous SNV	FKRP:NM_001039885:exon4:c.C341G:p.A114G,FKRP:NM_024301:exon4:c.C341G:p.A114G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, Autosomal recessive	4	1469	47	2	0	51	0.0170626	.	.	YES	102002	Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided|Cardiovascular_phenotype|Muscular_dystrophy-dystroglycanopathy_type_B5|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612,Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.382	.	0.0077	0.0061901	0.0224	0.0052	0.0215	0	0	0.0384	0	0.0157	0.0057826	894	154602	rs143793528	0.0132	0.0129	0.0133	0.0130	0.0236	0.0130	0.0129	0.0202	0.0190	0.0019	0.0084	0.0187	8.455e-05	0.0075	0.0236	0.0144	0.0116	0.0095	0.0092	0.0092	0.0098	0.0087	0.0140	0.0088	0.0087	0.0132	0.0129	0.0023	0.0165	0.0091	0.0213	0	0.0064	0.0240	0.0140	0.0085	0.0075	0.319	0.13610	T	0.073	0.92824	T	0.006	0.13644	B	0.005	0.11217	B	0.000521	0.43581	D	0.198495	0.892668	0.35987	D	1.355	0.33814	L	-4.04	0.99505	D	-1.04	0.27259	N	0.105	0.08925	0.924	0.96009	D	0.904	0.96805	D	10	0.0072417855	0.00194	T	.	.	.	0.382	0.69946	.	.	.	.	0.4958883684692556	0.49509	0.63526260264	0.57349	0.741750836372	0.73230	T	0.366226	0.73151	T	-0.320947	0.06821	T	-0.22147	0.52595	T	0.0115590318877849	0.00175	T	0.663934	0.34152	T	0.41739696	0.61918	0.15585433	0.36515	0.39136115	0.60129	0.17201027	0.39424	-5.31	0.40042	T	0.17407815705638266	0.22088	0.137	0.29779	B	.;.;.;.;.	.;.;.;.;.	2.528387	0.32681	19.12	0.95086995502133742	0.26145	0.83111	0.42257	D	AEFDBI	0.262530	0.38026	N	-0.240060399942387	0.31502	1.767024	-0.125204010306476	0.34376	1.976762	0.999995175067837	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.645312	0.48771	0	0.563494	0.21769	0	.	.	4.79	4.79	0.60909	3.398000	0.52325	7.318000	0.58153	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.1682:0.8318:0.0:0.0	12.451	0.55017	934	0.15400	.;.;.;.;.	.	.	.	.	.	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	0.025628	0.021978	0.015406	0.029762	0.000000	0.000000	0.048387	0.027559	0.02632	424.33	43	chr19	46755791	.	C	G	424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=788;ExcessHet=0;FS=1.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.126;SOR=0.721	GT:AD:DP:GQ:PL	0/1:32,15:47:99:438,0,1000	18	0	1	0
chr19	50226912	50226912	A	G	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon7:c.A796G:p.I266V,MYH14:NM_001077186:exon8:c.A820G:p.I274V,MYH14:NM_001145809:exon8:c.A820G:p.I274V	Deafness, autosomal dominant 4A, Autosomal dominant	1	1497	22	2	0	26	0.00860927	.	.	.	176039	not_provided|not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_4A|MYH14-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010915,MedGen:C1833503,OMIM:600652,Orphanet:90635|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.625	0.251596887955	0.0008	0.000199681	0.0005	9.701e-05	8.657e-05	0	0	0.0006	0	0.0010	0.0004463	69	154602	rs200424400	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0030	0.0026	0	0.0003	0.0003	0	0	0.0043	0.0003	0.0008	0.0014	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	2.41e-05	0	0.0002	0.0003	0	0	0	0.0005	0.0014	0.0008	0.016	0.52492	D	0.031	0.53788	D	0.975	0.67487	D	0.868	0.68536	P	.	.	.	.	0.999996	0.58761	D	2.2	0.62015	M	-2.39	0.88377	D	-0.87	0.23808	N	0.6	0.62526	0.619	0.92149	D	0.758	0.91742	D	9	0.22559306	0.39393	T	0.251597	0.89138	D	0.625	0.85511	.	.	0.751287166028	0.74903	0.3715412704269541	0.37068	0.664657686102	0.59097	0.760631024837	0.76023	T	0.370975	0.73542	T	-0.227062	0.17040	T	-0.159533	0.58395	T	0.0847291871905327	0.10581	T	0.89931	0.65300	D	0.11250037	0.26578	0.3126077	0.57261	0.12450874	0.29211	0.33650658	0.59451	-11.556	0.82621	D	0.5531031834935545	0.62149	0.560	0.71213	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.374302	0.67375	25.1	0.99788685013762934	0.87484	0.98060	0.79260	D	AEFDBI	0.912232	0.87258	D	0.650209491620924	0.76382	6.476178	0.593234592558211	0.74452	6.13973	0.827293745451382	0.24630	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.92	3.92	0.44525	9.150000	0.93833	10.916000	0.84210	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	1.0:0.0:0.0:0.0	11.04	0.47042	840	0.37365	.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor 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	0.005539	0.000000	0.004076	0.005848	0.000000	0.008621	0.009146	0.003788	0.02632	1081.33	33	chr19	50226912	.	A	G	1081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.169;DP=756;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=1.36;SOR=0.866	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1095,0,1698	18	0	1	0
chr19	55154042	55154042	C	T	exonic	TNNI3	.	unknown	UNKNOWN	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	14	1118	329	61	0	451	0.167845	.	.	YES	52561	Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Cardiomyopathy|Cardiomyopathy,_familial_restrictive,_1|Hypertrophic_cardiomyopathy_7|Primary_ciliary_dyskinesia	MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0485	0.0477236	0.0660	0.0124	0.0333	0.0448	0.0631	0.0718	0.0944	0.1065	0.0637314	9853	154602	rs3729841	0.0678	0.0679	0.0658	0.0699	0.1603	0.0675	0.0673	0.1510	0.1473	0.0123	0.0360	0.0934	0.0259	0.0627	0.1603	0.0680	0.0744	0.1089	0.0510	0.0512	0.0507	0.0512	0.1023	0.0500	0.0496	0.0949	0.0919	0.0122	0.1086	0.0409	0.0968	0.0417	0.0598	0.1463	0.0686	0.0696	0.1023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.131923	0.080808	0.118207	0.178363	0.100000	0.086207	0.143293	0.128788	0.2368	17634.8	33	chr19	55154042	.	C	T	17634.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.546;DP=1491;ExcessHet=1.1637;FS=1.116;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.644;SOR=0.594	GT:AD:DP:GQ:PL	0/1:47,75:122:99:2262,0,1396	11	1	7	0
chr20	1980092	1980092	G	C	ncRNA_intronic	PDYN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	349710	Spinocerebellar_ataxia_type_23|not_provided	MONDO:MONDO:0012449,MedGen:C1853250,OMIM:610245,Orphanet:101108|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs565210312	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	8.041e-05	0.0008	0	0	0.0003	0	0.0006	0.0004	0.0002	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0012	0.0010	7.223e-05	0	0.0017	0	0	9.429e-05	0	0.0007	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	195.34	20	chr20	1980092	.	G	C	195.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.591;DP=282;ExcessHet=0;FS=0;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.186;SOR=0.693	GT:AD:DP:GQ:PL	0/1:7,7:14:99:209,0,200	18	0	1	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R,SLC4A11:NM_001363745:exon5:c.A433C:p.R145R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	589	691	242	0	1175	0.499363	.	.	YES	257346	not_provided|Corneal_dystrophy-perceptive_deafness_syndrome|not_specified|Corneal_dystrophy|Congenital_hereditary_endothelial_dystrophy_of_cornea	MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.392246	0.474747	0.387228	0.353801	0.250000	0.379310	0.420732	0.363636	0.2632	28727.1	42	chr20	3234173	.	T	G	28727.1	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.252;DP=2028;ExcessHet=0.0151;FS=0;InbreedingCoeff=0.4571;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.047;SOR=0.695	GT:AD:DP:GQ:PL	0/1:109,110:219:99:2664,0,2847	12	3	4	0
chr20	34996718	34996718	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon30:c.G3352A:p.A1118T	.	399	1113	9	1	0	11	0.0049173	.	.	.	1364937	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.143	0.0261191235021	.	.	0.0003	0	8.718e-05	0	0	0.0002	0.0012	0.0010	0.000207	32	154602	rs774221345	0.0002	0.0002	0.0002	0.0003	0.0075	0.0002	0.0002	0.0057	0.0051	5.974e-05	0.0001	3.828e-05	0	0	0.0075	0.0001	0.0006	0.0015	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0.0003	0	0	0	0.0034	0.0001	0.0014	0.0023	0.025	0.47320	D	0.013	0.63109	D	.	.	.	.	.	.	0.438479	0.12657	N	0.647400	1	0.08975	N	.	.	.	-1.66	0.82715	D	-0.12	0.08809	N	0.163	0.17140	-0.6899	0.60913	T	0.310	0.68085	T	10	0.018741488	0.00411	T	0.026119	0.49051	D	0.143	0.38195	.	.	0.463586170655	0.45986	0.2873577937568905	0.28648	0.144541060222	0.16329	0.282088398933	0.07785	T	.	.	.	-0.458851	0.00999	T	-0.472417	0.25255	T	0.0211169056232798	0.00813	T	0.817118	0.47377	T	0.019424751	0.00472	0.055114843	0.09607	0.024583057	0.01305	0.0610174	0.11713	-5.642	0.43174	T	.	.	0.069	0.03231	B	.;.	.;.	1.347272	0.17547	13.23	0.98924024160424862	0.48620	0.14860	0.18623	N	AEFDBCI	0.082031	0.16605	N	-0.688883305002765	0.16338	0.8314626	-0.768695754995424	0.15263	0.801897	0.967617757729535	0.28990	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.54	2.09	0.26154	0.179000	0.16653	0.963000	0.23005	0.671000	0.69459	0.001000	0.13787	0.000000	0.08366	0.140000	0.19946	0.2757:0.21:0.374:0.1403	1.085	0.01547	616	0.66398	Myosin tail;Myosin tail	.	.	.	.	.	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	0.007056	0.000000	0.001359	0.026316	0.000000	0.025862	0.000000	0.003817	0.02632	1403.33	38	chr20	34996718	.	G	A	1403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.692;DP=831;ExcessHet=0;FS=0.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.149;SOR=0.771	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1417,0,1341	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1415.67	4	chr20	44429378	.	T	C	1415.67	.	AC=15;AF=0.417;AN=36;BaseQRankSum=1.38;DP=101;ExcessHet=0.0261;FS=13.744;InbreedingCoeff=0.3158;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=26.71;ReadPosRankSum=0.18;SOR=3.109	GT:AD:DP:GQ:PL	1/1:0,7:7:21:223,21,0	8	5	5	1
chr20	45960265	45960265	G	A	exonic	ZNF335	.	nonsynonymous SNV	ZNF335:NM_022095:exon14:c.C1963T:p.P655S	.	408	1089	24	1	0	26	0.0117967	.	.	.	208673	not_provided|not_specified|ZNF335-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.158	.	0.0069	0.0145767	0.0120	0.0017	0.0042	0.0001	0.0024	0.0091	0.0077	0.0456	0.0118368	1830	154602	rs117132825	0.0124	0.0124	0.0113	0.0136	0.0454	0.0123	0.0122	0.0442	0.0438	0.0015	0.0054	0.0031	7.557e-05	0.0033	0.0114	0.0116	0.0125	0.0454	0.0076	0.0076	0.0074	0.0078	0.0447	0.0072	0.0071	0.0399	0.0380	0.0021	0	0.0076	0.0026	0.0004	0.0020	0.0034	0.0102	0.0071	0.0447	0.235	0.18000	T	0.466	0.12386	T	0.92	0.51019	P	0.578	0.50118	P	0.015818	0.28146	N	0.343744	0.835286	0.28705	N	0.805	0.20218	L	4.81	0.01516	T	0.92	0.01573	N	0.144	0.14480	-0.8676	0.50709	T	0.003	0.00961	T	10	0.005218357	0.00114	T	.	.	.	0.158	0.41098	.	.	.	.	0.4356960719473755	0.43486	0.360157557372	0.37701	0.612389087677	0.54654	T	0.066011	0.32834	T	-0.493425	0.00623	T	-0.447239	0.28002	T	0.0158836538418582	0.00374	T	0.815218	0.46991	T	0.02445945	0.01279	0.051130466	0.08168	0.02445945	0.01279	0.051130466	0.08167	-6.461	0.49984	T	0.08599279736080774	0.04906	0.099	0.16756	B	.	.	3.008141	0.40220	21.1	0.99906022371637671	0.97651	0.68371	0.33777	D	AEFBCI	0.254427	0.37374	N	0.0287885750426017	0.43168	2.615051	0.145351760857554	0.46898	2.92826	0.998681059134653	0.37455	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	4.16	0.48138	2.929000	0.48610	5.193000	0.47905	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0883:0.0:0.6328:0.2788	6.4	0.20835	745	0.52414	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs117132825	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	0.012085	0.010101	0.005435	0.011696	0.050000	0.017241	0.003049	0.037879	0.02632	1751.33	40	chr20	45960265	.	G	A	1751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=811;ExcessHet=0;FS=0.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.278;SOR=0.637	GT:AD:DP:GQ:PL	0/1:93,71:164:99:1765,0,2398	18	0	1	0
chr20	62312901	62312901	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon66:c.C9065T:p.S3022L	.	393	1128	1	0	0	1	0.000443066	.	.	.	1600655	Inborn_genetic_diseases|LAMA5-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0620787326221	.	0.000798722	0.0006	0	8.832e-05	0	0	4.91e-05	0	0.0060	0.0005692	88	154602	rs546335527	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	3.03e-05	6.953e-05	0	5.085e-05	0	0.0014	8.212e-06	0.0004	0.0052	0.0002	0.0002	0.0001	0.0002	0.0037	0.0001	9.231e-05	0.0024	0.0020	4.81e-05	0	0	0	0	0	0	4.409e-05	0.0005	0.0037	0.271	0.15984	T	0.059	0.45961	T	0.032	0.20242	B	0.027	0.21085	B	0.363869	0.04320	U	1.493010	1	0.08975	N	1.1	0.28011	L	-1.31	0.79666	T	-1.98	0.45769	N	0.236	0.26596	-0.6908	0.60871	T	0.403	0.75352	T	10	0.0080138445	0.00182	T	0.062079	0.68539	D	0.229	0.52916	0.589	0.71749	0.536312930822	0.53281	0.2978594882413681	0.29698	.	.	0.422438919544	0.28172	T	0.162972	0.50785	T	-0.406543	0.02096	T	-0.354552	0.38683	T	0.0324325746514679	0.02377	T	0.720728	0.33361	T	0.086698174	0.20163	0.05929975	0.11104	0.086698174	0.20162	0.05929975	0.11103	-3.68	0.19023	T	.	.	0.098	0.16275	B	.	.	1.724520	0.21953	15.42	0.98984632935525918	0.49800	0.09196	0.15000	N	AEFDGBCI	0.079065	0.15964	N	-0.698451932233998	0.16065	0.8152649	-0.695996003513139	0.17061	0.9054323	0.999557627676994	0.40362	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.64	3.69	0.41483	2.097000	0.41373	3.752000	0.39687	0.606000	0.46413	0.024000	0.20007	0.665000	0.26036	0.029000	0.12982	0.0843:0.0:0.9157:0.0	12.350	0.54469	774	0.48577	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	1427.33	43	chr20	62312901	.	G	A	1427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=833;ExcessHet=0;FS=11.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=0.341;SOR=0.501	GT:AD:DP:GQ:PL	0/1:33,48:81:99:1441,0,905	18	0	1	0
chr21	33276582	33276582	T	G	intronic	IL10RB	.	.	.	Inflammatory bowel disease 25, early onset, autosomal recessive, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	351591	Inflammatory_bowel_disease_25	MONDO:MONDO:0012941,MedGen:C2675508,OMIM:612567,Orphanet:238569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000599042	0.0008	0.0002	0.0010	0	0	0.0006	0.0033	0.0022	0.0007374	114	154602	rs200472684	0.0008	0.0008	0.0007	0.0008	0.0151	0.0007	0.0007	0.0125	0.0116	0.0009	0.0014	0.0002	0	9.363e-05	0.0151	0.0006	0.0016	0.0020	0.0005	0.0005	0.0006	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0	0.0010	0.0003	0	0	0.0306	0.0006	0.0019	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1290.33	33	chr21	33276582	.	T	G	1290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.727;DP=776;ExcessHet=0;FS=0.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-1.332;SOR=0.822	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1304,0,1304	18	0	1	0
chr21	33432890	33432890	C	-	intronic	IFNGR2	.	.	.	Immunodeficiency 28, mycobacteriosis, Autosomal recessive	196	1271	52	1	2	56	0.0208012	.	.	.	45040	not_provided|Interferon_gamma_receptor_deficiency|Immunodeficiency_28	MedGen:C3661900|MedGen:C1112429|MONDO:MONDO:0013953,MedGen:C4013947,OMIM:614889,Orphanet:319547,Orphanet:319574	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3572	.	0.0604	0.0666	0.1064	0.0634	0.0565	0.0608	0.0652	0.0408	0.0002305	6	26028	rs193922682	0.0499	0.0914	0.0513	0.0485	0.0679	0.0495	0.0494	0.0656	0.0646	0.0576	0.0679	0.0348	0.0466	0.0438	0.0377	0.0518	0.0505	0.0250	0.0006	0.0013	0.0005	0.0008	0.0006	0.0005	0.0005	0.0005	0.0004	0.0002	0	0.0005	0	0.0006	0.0041	0	0.0006	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	92.3	42	chr21	33432889	.	TC	T	92.3	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.098;DP=893;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0763;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=0.207;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,6:47:11:0|1:33432889_TC_T:11,0,1099:33432889	16	0	3	0
chrX	69957088	69957088	G	A	exonic	EDA	.	nonsynonymous SNV	EDA:NM_001005609:exon2:c.G458A:p.R153H,EDA:NM_001005612:exon2:c.G458A:p.R153H,EDA:NM_001399:exon2:c.G458A:p.R153H	Ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive;Tooth agenesis, selective, X-linked 1, X-linked dominant	3	1482	20	17	0	54	0.0178926	.	.	YES	689535	Hypohidrotic_X-linked_ectodermal_dysplasia|not_provided	MONDO:MONDO:0010585,MedGen:C0162359,OMIM:305100,Orphanet:181,Orphanet:238468|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	.	0.0012	0.00741722	0.0031	0	0.0008	0.0002	0	0.0022	0.0034	0.0166	0.00315	487	154602	rs140642493	0.0023	0.0023	0.0021	0.0028	0.0147	0.0022	0.0022	0.0138	0.0135	0.0002	0.0004	0.0088	0.0002	0.0004	0.0099	0.0016	0.0030	0.0147	0.0015	0.0015	0.0014	0.0017	0.0183	0.0013	0.0012	0.0143	0.0128	0.0002	0.0015	0.0003	0.0072	0.0006	0.0002	0.0046	0.0015	0.0007	0.0183	0.275	0.15770	T	0.173	0.30241	T	0.0	0.02946	B	0.001	0.04355	B	0.821062	0.09178	N	0.924022	0.994938	0.23410	N	0.205	0.09354	N	-0.67	0.92057	T	-0.16	0.17003	N	0.087	0.06454	-0.8272	0.53480	T	0.518	0.81951	D	10	0.005271256	0.00115	T	.	.	.	0.246	0.55340	.	.	0.866956307199	0.86566	0.6767630153420616	0.67615	0.96505907527	0.73146	0.261357486248	0.05054	T	0.386253	0.74746	T	-0.487023	0.00675	T	-0.460675	0.26526	T	0.0145842664323862	0.00299	T	0.80172	0.44782	T	0.1535102	0.34792	0.14223276	0.33844	0.1783368	0.38847	0.13442135	0.32209	-4.449	0.30441	T	0.14235047450396582	0.16091	0.062	0.22024	B	.;.;.;.;.	.;.;.;.;.	0.573432	0.09421	6.199	0.87504351889101417	0.17275	0.10421	0.15933	N	AEFI	.	.	.	.	.	.	.	.	.	0.0237221591358734	0.13528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.97	-4.47	0.03278	-0.327000	0.07998	-1.031000	0.06547	-1.373000	0.01168	0.814000	0.29906	0.000000	0.08366	0.926000	0.46234	0.768:0.0:0.232:0.0	13.526	0.61051	162	0.93704	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.008299	0.000000	0.007435	0.011858	0.000000	0.000000	0.008850	0.015789	0.02632	657.33	34	chrX	69957088	.	G	A	657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.904;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.016;SOR=0.619	GT:AD:DP:GQ:PL	0/1:41,27:68:99:671,0,1093	18	0	1	0
chrX	75274469	75274469	C	T	exonic	UPRT	.	nonsynonymous SNV	UPRT:NM_001307944:exon1:c.C215T:p.S72F,UPRT:NM_145052:exon1:c.C215T:p.S72F	.	431	1079	8	4	0	16	0.00735971	.	.	.	1196408	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.067	0.00866531453799	0.0006	.	0.0005	0	0.0009	0	0	0.0008	0	0.0001	0.0004592	71	154602	rs144630001	0.0007	0.0007	0.0006	0.0007	0.0215	0.0006	0.0006	0.0179	0.0166	0.0005	0.0007	0.0055	0	0	0.0215	0.0005	0.0019	0.0002	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	9.734e-05	0	0.0003	0.0030	0	0	0.0139	0.0005	0.0026	0	0.01	0.57480	D	0.035	0.53426	D	0.019	0.17989	B	0.023	0.19966	B	0.000290	0.00554	N	3.815970	1	0.08975	N	0	0.06538	N	.	.	.	-1.08	0.28497	N	0.161	0.16864	-1.0704	0.09326	T	0.049	0.20868	T	9	0.0054303706	0.00120	T	0.008665	0.22878	T	0.067	0.19503	.	.	0.043077524339	0.03247	0.23397083950401912	0.23312	0.189411528645	0.21256	0.329345345497	0.14835	T	0.181773	0.53355	T	-0.606822	0.00132	T	-0.73238	0.04221	T	0.0238014036086912	0.01120	T	0.751225	0.37284	T	0.06055136	0.12439	0.08877476	0.20720	0.06055136	0.12439	0.08877476	0.20719	-5.924	0.45639	T	.	.	0.085	0.11845	B	.;.	.;.	1.378445	0.17898	13.43	0.97081343485066285	0.32281	0.02092	0.06211	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999216082	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.14	-2.19	0.06621	-0.090000	0.11129	.	.	-0.206000	0.08541	0.000000	0.06391	.	.	0.251000	0.23288	0.1261:0.2219:0.2448:0.4072	1.506	0.02337	197	0.92378	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018711	0.000000	0.025974	0.039526	0.000000	0.023529	0.004425	0.000000	0.02632	2835.33	37	chrX	75274469	.	C	T	2835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=898;ExcessHet=0;FS=0.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=1.55;SOR=0.791	GT:AD:DP:GQ:PL	0/1:131,109:240:99:2849,0,3558	18	0	1	0
chrX	154361972	154361972	T	C	intronic	FLNA	.	.	.	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	.	.	.	.	.	.	.	0	0.014	.	192096	Melnick-Needles_syndrome|Frontometaphyseal_dysplasia|Oto-palato-digital_syndrome,_type_II|Heterotopia,_periventricular,_X-linked_dominant|not_provided|FLNA-related_disorder	MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	1.156e-05	0	0	0	0	2.105e-05	0	0	.	.	.	rs782545599	1.185e-05	1.184e-05	1.362e-05	8.276e-06	2.84e-05	6.61e-06	5.1e-06	7.6e-06	6.01e-06	0	2.84e-05	0	0	0	0	1.426e-05	0	0	9.067e-06	8.719e-06	0	3.074e-05	1.904e-05	0	0	.	.	0	0	0	0	0	0	0	1.904e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	689.33	33	chrX	154361972	.	T	C	689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=583;ExcessHet=0;FS=2.722;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.309;SOR=1.355	GT:AD:DP:GQ:PL	0/1:24,24:48:99:703,0,666	18	0	1	0