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	NSWES978	WT	HH	HZ	NC
chr1	1041245	1041245	C	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon5:c.C800T:p.T267M	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	690290	Inborn_genetic_diseases|AGRN-related_disorder|not_provided|Congenital_myasthenic_syndrome_8	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.273	.	.	0.00199681	0.0008	0.0348	0	0	0	0	0	0	0.0002846	44	154602	rs566673314	0.0002	0.0003	0.0003	0.0002	0.0095	0.0002	0.0002	0.0085	0.0082	0.0095	0.0003	0	0	0	0.0015	1.228e-05	0.0007	6.656e-05	0.0024	0.0024	0.0024	0.0023	0.0083	0.0022	0.0021	0.0076	0.0073	0.0083	0	0.0008	0	0	0	0	4.42e-05	0	0	0.011	0.55530	D	0.004	0.74150	D	.	.	.	.	.	.	0.011964	0.29336	N	0.273243	0.988631	0.40800	D	2.455	0.71248	M	-1.07	0.76948	T	-2.24	0.50175	N	0.163	0.17140	0.007	0.82399	D	0.555	0.83752	D	10	0.008358687	0.00190	T	.	.	.	0.273	0.58883	0.305	0.27485	0.831208778231	0.82960	0.20380577410110742	0.20297	1.11105183779	0.78059	0.686756491661	0.65240	T	.	.	.	-0.379887	0.03121	T	-0.306782	0.44004	T	0.0380713030691359	0.03345	T	0.973953	0.91418	D	.	.	.	.	.	.	.	.	-7.726	0.59188	D	.	.	0.090	0.19679	B	.;.	.;.	2.979800	0.39743	21.0	0.99768286173574172	0.85666	0.48260	0.28167	N	AEFDBHCIJ	0.556997	0.56680	D	0.00164858252539335	0.41930	2.516975	-0.211008384153284	0.31138	1.759519	0.999998994425346	0.74766	0.789315	0.99827	0	0.723109	0.82256	0	0.768056	0.98339	0	0.562822	0.20929	0	.	.	4.69	2.75	0.31439	2.239000	0.42728	1.661000	0.27900	0.573000	0.29008	0.620000	0.27914	0.903000	0.28003	0.061000	0.16044	0.0:0.7746:0.1456:0.0799	9.376	0.37446	940	0.13648	.;Kazal domain|EGF-like domain|Follistatin-like, 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	0.004444	0.006098	0.007645	0.000000	0.000000	0.000000	0.006897	0.000000	0.02632	1547.33	33	chr1	1041245	.	C	T	1547.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.693;DP=747;ExcessHet=0;FS=3.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=2.47;SOR=0.397	GT:AD:DP:GQ:PL	0/1:56,64:120:99:1561,0,1442	18	0	1	0
chr1	21833291	21833291	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon80:c.C11075T:p.T3692I,HSPG2:NM_005529:exon80:c.C11072T:p.T3691I	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1495	27	0	0	27	0.00894929	.	.	.	280493	Lethal_Kniest-like_syndrome|Schwartz-Jampel_syndrome|not_provided|HSPG2-related_disorder|not_specified	MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.424	0.245285414436	0.0004	0.000998403	0.0011	0.0003	0.0004	0.0001	0	0.0008	0.0011	0.0044	0.0009767	151	154602	rs149159881	0.0008	0.0008	0.0006	0.0010	0.0050	0.0008	0.0008	0.0036	0.0035	0.0001	0.0003	0.0036	0	1.872e-05	0.0050	0.0006	0.0012	0.0039	0.0007	0.0007	0.0006	0.0008	0.0044	0.0006	0.0005	0.0029	0.0024	0.0002	0	0.0003	0.0040	0	0	0.0068	0.0007	0.0009	0.0044	0.009	0.57480	D	0.003	0.76473	D	0.985	0.61118	D	0.756	0.56253	P	0.029252	0.25481	N	0.190770	0.934839	0.37101	D	1.91	0.51138	L	-1.26	0.79176	T	-3.61	0.69477	D	0.63	0.64393	-0.2124	0.77351	T	0.408	0.75699	T	10	0.026100904	0.00785	T	0.245285	0.88879	D	0.424	0.73226	.	.	0.804346720858	0.80252	0.7205405142043676	0.71997	0.738424186528	0.63111	0.578872740269	0.49927	T	0.757462	0.93402	D	-0.301434	0.08525	T	-0.206047	0.54072	T	0.0420120737277858	0.04057	T	0.753825	0.37593	T	0.18076812	0.39214	0.2068992	0.44925	0.18076812	0.39213	0.2068992	0.44924	-7.952	0.60742	D	.	.	0.179	0.39029	B	.	.	4.625571	0.73491	26.0	0.99626276538485226	0.75716	0.94471	0.61272	D	AEFDBCI	0.661576	0.63175	D	0.298963999101559	0.56097	3.77389	0.2852595295617	0.54677	3.632083	0.254999135574149	0.18723	0.67177	0.52595	0	0.633656	0.55848	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.81	2.68	0.30839	4.719000	0.61629	8.221000	0.76826	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0866:0.0:0.7638:0.1496	9.693	0.39308	862	0.33134	Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.009511	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1424.33	36	chr1	21833291	.	G	A	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.428;DP=856;ExcessHet=0;FS=7.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.19;SOR=1.487	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1438,0,1167	18	0	1	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	0/1:78,54:132:99:2023,0,3113	10	2	7	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	1/1:0,165:165:99:4999,495,0	0	19	0	0
chr1	67338653	67338653	A	T	exonic	IL12RB2	.	nonsynonymous SNV	IL12RB2:NM_001258215:exon8:c.A988T:p.M330L,IL12RB2:NM_001258216:exon8:c.A988T:p.M330L,IL12RB2:NM_001559:exon8:c.A988T:p.M330L,IL12RB2:NM_001258214:exon9:c.A988T:p.M330L,IL12RB2:NM_001319233:exon9:c.A988T:p.M330L,IL12RB2:NM_001374259:exon9:c.A988T:p.M330L	.	419	1102	1	0	0	1	0.000453515	.	.	.	1343675	IL12RB2-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.013	0.00383624063409	0.0004	0.000199681	0.0006	0.0005	0.0020	0.0001	0.0003	0.0006	0	6.057e-05	0.0005563	86	154602	rs150877640	0.0004	0.0004	0.0004	0.0005	0.0030	0.0004	0.0004	0.0019	0.0016	0.0008	0.0017	0.0015	0	0.0003	0.0030	0.0004	0.0006	4.699e-05	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0008	0.0007	0.0003	0.0055	0.0012	0.0014	0	0	0	0.0004	0.0014	0.0002	0.5	0.17239	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.848863	0.07044	N	1.063550	0.999991	0.08975	N	1.445	0.36358	L	0.71	0.51228	T	-0.63	0.19933	N	0.245	0.33687	-1.0105	0.26760	T	0.027	0.11663	T	10	0.0057055354	0.00127	T	0.003836	0.08961	T	0.059	0.16972	0.684	0.82175	0.298745278005	0.29478	0.19224443982778164	0.19142	0.122856019318	0.13844	0.298953711987	0.10245	T	0.06843	0.33456	T	-0.559545	0.00255	T	-0.589754	0.13687	T	0.00400107801468078	0.00042	T	0.624837	0.40643	T	0.08723208	0.20304	0.0895667	0.20952	0.08723208	0.20304	0.0895667	0.20951	-2.773	0.17482	T	.	.	0.099	0.19720	B	.;.;.;.;.	.;.;.;.;.	0.311019	0.06862	3.393	0.77810031052050166	0.12032	0.02792	0.07507	N	AEFGBHCI	0.064447	0.12515	N	-1.41887447293301	0.02473	0.109261	-1.43484381998801	0.02910	0.1347671	0.999999469571621	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	4.92	-3.9	0.03904	-0.137000	0.10369	-0.369000	0.09620	-0.577000	0.04723	0.003000	0.16062	0.000000	0.08366	0.609000	0.31615	0.2604:0.4948:0.2447:0.0	7.050	0.24245	740	0.53092	Fibronectin type III;.;Fibronectin type III;.;Fibronectin type III	.	.	.	.	.	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	0.005539	0.000000	0.009511	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	1570.33	38	chr1	67338653	.	A	T	1570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.78;DP=747;ExcessHet=0;FS=5.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-1.021;SOR=0.487	GT:AD:DP:GQ:PL	0/1:56,64:120:99:1584,0,1309	18	0	1	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	16785.1	32	chr1	89054646	.	GAAAAAC	G	16785.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.619;DP=717;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=59.94;MQRankSum=0;QD=32.09;ReadPosRankSum=0.749;SOR=0.642	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1914,130,0	5	8	6	0
chr1	94031856	94031856	C	G	exonic	ABCA4	.	synonymous SNV	ABCA4:NM_000350:exon27:c.G4050C:p.L1350L	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	1	1508	13	0	0	13	0.00429185	.	.	YES	283422	Macular_degeneration|Cone-Rod_Dystrophy,_Recessive|Retinitis_Pigmentosa,_Recessive|ABCA4-related_disorder|Stargardt_Disease,_Recessive|not_provided|not_specified	Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437|MedGen:CN239309|MedGen:CN239466|MedGen:CN239167|MedGen:CN239312|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.00179712	0.0012	0	0.0003	0	0.0002	0.0007	0.0022	0.0055	0.0010284	159	154602	rs141004967	0.0007	0.0007	0.0005	0.0008	0.0055	0.0006	0.0006	0.0051	0.0050	5.974e-05	0.0003	0	0	0.0004	0.0044	0.0004	0.0010	0.0055	0.0005	0.0005	0.0004	0.0006	0.0039	0.0004	0.0004	0.0026	0.0021	7.215e-05	0	0.0004	0	0	0.0003	0	0.0006	0.0009	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	6451.83	37	chr1	94031856	.	C	G	6451.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.322;DP=1134;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.922;SOR=0.676	GT:AD:DP:GQ:PL	0/1:94,131:225:99:3431,0,2469	17	0	2	0
chr1	114688633	114688633	G	A	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon2:c.C230T:p.P77L,AMPD1:NM_000036:exon3:c.C143T:p.P48L	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	1	1311	197	13	0	223	0.0783831	.	.	.	59862	AMPD1-related_disorder|Muscle_AMP_deaminase_deficiency|not_provided	.|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.513	.	0.0959	0.0389377	0.0884	0.0204	0.0414	0	0.1190	0.1284	0.0936	0.0359	0.0907039	14023	154602	rs61752479	0.1149	0.1149	0.1169	0.1129	0.1321	0.1144	0.1142	0.1315	0.1313	0.0179	0.0524	0.0794	0.0002	0.1185	0.0700	0.1321	0.1031	0.0357	0.0864	0.0864	0.0890	0.0837	0.1345	0.0852	0.0847	0.1322	0.1312	0.0220	0.1352	0.0726	0.0735	0.0006	0.1190	0.1020	0.1345	0.0825	0.0278	0.0	0.91255	D	0.012	0.66756	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	5.66441e-12	0.58761	P	2.36	0.67893	M	-0.06	0.63568	T	-4.77	0.81675	D	0.319	0.52297	-0.4319	0.71004	T	0.327	0.69547	T	9	0.0030060112	0.00049	T	.	.	.	0.513	0.79156	.	.	.	.	0.6895456751198693	0.68894	0.458877496628	0.45489	0.575833857059	0.49499	T	0.66843	0.90131	D	-0.230384	0.16599	T	0.026113	0.72025	D	0.0275783631916759	0.01628	T	0.828517	0.49290	T	0.6593905	0.75866	0.67231613	0.80768	0.6971688	0.77904	0.6990365	0.82272	-5.592	0.42719	T	.	.	0.630	0.72046	P	.;.	.;.	5.188437	0.87016	29.1	0.99860740577331131	0.93911	0.99136	0.91756	D	AEFDBI	0.834469	0.75252	D	0.710865082701106	0.80343	7.27372	0.688672192200562	0.81517	7.54557	0.999999999756748	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	9.346000	0.96459	9.894000	0.82296	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:1.0:0.0	20.025	0.97519	819	0.41190	.;.	DCLRE1B|AMPD1|BCAS2|BCAS2	Heart_Atrial_Appendage|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid	DENND2C|BCAS2|BCAS2|BCAS2|DENND2C|BCAS2	Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs61752479	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	0.067976	0.055556	0.082880	0.058480	0.150000	0.051724	0.097561	0.037879	0.1053	3595.43	104	chr1	114688633	.	G	A	3595.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.29;DP=871;ExcessHet=0.7564;FS=3.539;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.7;SOR=0.882	GT:AD:DP:GQ:PL	0/1:53,36:89:99:864,0,1247	15	0	4	0
chr1	114693436	114693436	G	A	exonic	AMPD1	.	stopgain	AMPD1:NM_000036:exon2:c.C34T:p.Q12X	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	10	1322	174	16	0	206	0.0722807	0.0437	0.214	YES	33310	not_specified|Muscle_AMP_deaminase_deficiency|not_provided|AMPD1-related_disorder	MedGen:CN169374|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	0.0946	0.038139	0.0871	0.0205	0.0405	0	0.1181	0.1264	0.0929	0.0356	0.0032657	85	26028	rs17602729	0.1089	0.1113	0.1106	0.1071	0.1250	0.1084	0.1083	0.1244	0.1242	0.0164	0.0506	0.0773	0.0002	0.1164	0.0657	0.1250	0.0984	0.0347	0.0849	0.0849	0.0876	0.0821	0.1323	0.0837	0.0832	0.1300	0.1291	0.0217	0.1242	0.0703	0.0721	0.0006	0.1180	0.0959	0.1323	0.0803	0.0278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.44169e-26	0.81001	P	.	.	.	.	.	.	.	.	.	0.782	0.77883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153572	0.69602	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	Low	8.660054	0.97850	38	0.99660861544518997	0.77947	0.88917	0.49082	D	AEFI	0.504544	0.53606	D	0.849436995826206	0.89077	9.825315	0.649994004922376	0.78608	6.911039	0.00119960457971663	0.08324	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.91	2.84	0.32241	3.472000	0.52879	2.756000	0.34570	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2934:0.7066:0.0	13.604	0.61503	816	0.41767	.	AMPD1|BCAS2|BCAS2	Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid	DENND2C|BCAS2|BCAS2|BCAS2|DENND2C|BCAS2	Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs17602729	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	0.063948	0.055556	0.081522	0.049708	0.150000	0.060345	0.088415	0.034091	0.1053	5414.43	150	chr1	114693436	.	G	A	5414.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.69;DP=1048;ExcessHet=0.7564;FS=2.47;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.32;SOR=0.836	GT:AD:DP:GQ:PL	0/1:90,66:156:99:1379,0,2136	15	0	4	0
chr1	154429403	154429403	G	A	exonic	IL6R	.	nonsynonymous SNV	IL6R:NM_000565:exon2:c.G293A:p.R98Q,IL6R:NM_001206866:exon2:c.G293A:p.R98Q,IL6R:NM_001382769:exon2:c.G293A:p.R98Q,IL6R:NM_001382770:exon2:c.G293A:p.R98Q,IL6R:NM_001382771:exon2:c.G293A:p.R98Q,IL6R:NM_001382772:exon2:c.G293A:p.R98Q,IL6R:NM_001382773:exon2:c.G293A:p.R98Q,IL6R:NM_181359:exon2:c.G293A:p.R98Q	.	.	.	.	.	.	.	.	.	.	.	986913	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.00379774189263	.	.	7.456e-05	0	0	0	0	0.0001	0	6.101e-05	5.82e-05	9	154602	rs749494588	3.832e-05	3.831e-05	3.54e-05	4.127e-05	4.472e-05	3.026e-05	2.72e-05	2.914e-05	2.589e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	3.868e-05	0.0001	1.16e-05	3.287e-05	3.284e-05	3.855e-05	2.692e-05	4.411e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0010	0	0.572	0.19639	T	0.396	0.16473	T	0.003	0.17332	B	0.0	0.01387	B	0.025425	0.01630	N	2.081920	1	0.08975	N	-0.83	0.01527	N	2.5	0.17113	T	0.66	0.02721	N	0.067	0.09207	-1.0113	0.26510	T	0.003	0.01092	T	10	0.02681753	0.00840	T	0.003798	0.08868	T	0.070	0.20419	0.531	0.63855	0.213573922156	0.20996	0.5620348333910018	0.56130	0.286730773741	0.31065	0.229831933975	0.01956	T	0.061533	0.31678	T	-0.386634	0.02827	T	-0.607246	0.12209	T	0.0156626775697976	0.00360	T	0.549145	0.18957	T	0.040259983	0.05713	0.032992814	0.02123	0.040259983	0.05712	0.032992814	0.02122	-4.333	0.34380	T	.	.	0.071	0.04002	B	.;.;.;.	.;.;.;.	-0.397236	0.02224	0.224	0.66929688642376417	0.08203	0.00769	0.03173	N	AEFDBI	0.036655	0.04919	N	-2.19794420422255	0.00078	0.003322106	-2.22740322021938	0.00097	0.004263312	0.999999999926525	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.05	-10.1	0.00330	-1.107000	0.03427	-1.482000	0.05340	-2.648000	0.00223	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2752:0.0:0.4766:0.2481	7.772	0.28180	513	0.74941	Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	1097.33	34	chr1	154429403	.	G	A	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.997;DP=722;ExcessHet=0;FS=4.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.185;SOR=0.374	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1111,0,936	18	0	1	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	0/1:22,26:60:99:556,0,414	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	0/1:8,11:19:99:280,0,197	8	0	11	0
chr1	161223056	161223061	CACACA	-	intronic	APOA2	.	.	.	Apolipoprotein A-II deficiency (3)	.	.	.	.	.	.	.	.	.	.	278001	Apolipoprotein_A-II_deficiency|APOA2-related_disorder|not_specified	MedGen:C3888202|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2676	0.2838	0.2889	0.3239	0.2824	0.2425	0.2683	0.3068	0.0001153	3	26028	rs141599125	0.2640	0.2643	0.2635	0.2644	0.3260	0.2632	0.2630	0.3212	0.3193	0.2963	0.2953	0.2656	0.3260	0.2789	0.2856	0.2556	0.2720	0.2986	0.3231	0.3245	0.3194	0.3271	0.3985	0.3207	0.3197	0.3839	0.3779	0.3433	0.3060	0.3376	0.3225	0.3985	0.3523	0.2740	0.2943	0.3310	0.3783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	33500.5	67	chr1	161223055	.	CCACACA	C	33500.5	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.231;DP=2087;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.4615;MLEAC=12;MLEAF=0.316;MQ=59.98;MQRankSum=0;QD=25.57;ReadPosRankSum=0.204;SOR=0.757	GT:AD:DP:GQ:PL	1/0:2,28:60:99:1667,583,1110	9	2	8	0
chr1	162776155	162776155	A	G	exonic	DDR2	.	nonsynonymous SNV	DDR2:NM_001354982:exon16:c.A2068G:p.M690V,DDR2:NM_001354983:exon16:c.A2068G:p.M690V,DDR2:NM_006182:exon16:c.A2068G:p.M690V,DDR2:NM_001014796:exon17:c.A2068G:p.M690V	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	277308	Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome|not_provided|Connective_tissue_disorder	MONDO:MONDO:0010077,MedGen:C1849011,OMIM:271665,Orphanet:93358|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.655	0.0345289167767	7.7e-05	0.00139776	0.0006	0	0	0	0	5.998e-05	0.0011	0.0043	0.0005563	86	154602	rs377626332	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0043	0	2.236e-05	0	0	0	0.0010	4.497e-05	0.0002	0.0048	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	0	0	0.0001	0	0.0002	0	0	0.0001	0	0.0050	0.419	0.09866	T	0.129	0.34837	T	0.053	0.22573	B	0.148	0.34065	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.21	0.30464	L	-2.38	0.88298	D	-2.05	0.47008	N	0.662	0.67304	-0.4461	0.70529	T	0.395	0.74800	T	9	0.013472348	0.00286	T	0.034529	0.55736	D	0.655	0.87035	.	.	0.973642156486	0.97336	0.7524774297565009	0.75194	0.854938578419	0.68716	0.658908605576	0.61252	T	0.616772	0.87931	D	0.0437368	0.57532	T	0.290315	0.87694	D	0.0632377320065735	0.07669	T	0.856014	0.54441	D	0.45695558	0.64482	0.27215394	0.53123	0.5102004	0.67692	0.27629995	0.53572	-7.178	0.55323	T	.	.	0.185	0.40048	B	.;.;.	.;.;.	4.153329	0.62320	24.4	0.97710615766073083	0.35495	0.99821	0.99681	D	AEFBI	0.893500	0.83152	D	0.0608806485536174	0.44645	2.734733	0.252524769552834	0.52791	3.451764	0.999999909562718	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.381000	0.78992	9.368000	0.80425	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.178	0.65095	829	0.39537	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic 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	.	.	.	.	.	.	.	.	0.02632	1698.33	36	chr1	162776155	.	A	G	1698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.841;SOR=0.64	GT:AD:DP:GQ:PL	0/1:84,67:151:99:1712,0,2127	18	0	1	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	7705.08	28	chr1	168293284	.	A	AGT	7705.08	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-0.747;DP=1427;ExcessHet=3.4183;FS=14.134;InbreedingCoeff=-0.1579;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.78;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,20:29:99:.:.:481,0,158:.	6	0	13	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	1/1:0,141:141:99:4272,423,0	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	0/1:129,125:254:99:3305,0,3431	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	1/1:0,82:82:99:2537,246,0	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	1/1:0,176:176:99:5383,528,0	5	8	6	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	1/1:0,95:95:99:3268,285,0	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	0/1:50,10:68:27:27,0,1121	2	2	15	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	1408	66	5	15	28	63	0.209581	.	.	.	280387	not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	4921.59	12	chr1	237833281	.	G	GA	4921.59	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.027;DP=481;ExcessHet=2.8292;FS=3.582;InbreedingCoeff=-0.0917;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.165;SOR=0.992	GT:AD:DP:GQ:PL	0/1:10,8:19:99:165,0,208	2	3	14	0
chr1	241500602	241500602	-	GAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281943	Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|not_specified	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0104887	273	26028	rs144131869	0.1525	0.1590	0.1541	0.1509	0.1598	0.1519	0.1517	0.1592	0.1589	0.1416	0.1037	0.1260	0.1186	0.1150	0.1201	0.1598	0.1481	0.1335	0.2022	0.2027	0.2033	0.2011	0.2258	0.2002	0.1994	0.2227	0.2215	0.1753	0.1505	0.1884	0.1918	0.1716	0.1744	0.1889	0.2258	0.1997	0.2131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	12226.9	7	chr1	241500602	.	T	TGAGAGA	12226.9	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-0.478;DP=964;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.1668;MLEAC=8;MLEAF=0.222;MQ=59.98;MQRankSum=0;QD=31.68;ReadPosRankSum=-0.129;SOR=0.741	GT:AD:DP:GQ:PL	1/0:0,7:17:59:720,172,114	11	1	6	1
chr1	241500602	241500602	-	GAGAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	280161	Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|Fumarase_deficiency|not_provided	Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026126	68	26028	rs144131869	0.0473	0.0531	0.0477	0.0469	0.0945	0.0470	0.0469	0.0917	0.0905	0.0945	0.0380	0.0556	0.0627	0.0399	0.0389	0.0453	0.0514	0.0514	0.0772	0.0824	0.0768	0.0777	0.1283	0.0760	0.0755	0.1252	0.1239	0.1283	0.0719	0.0701	0.0939	0.0863	0.0590	0.0296	0.0532	0.0619	0.0564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	12226.9	7	chr1	241500602	.	T	TGAGAGAGA	12226.9	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.478;DP=964;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.1668;MLEAC=1;MLEAF=0.028;MQ=59.98;MQRankSum=0;QD=31.68;ReadPosRankSum=-0.129;SOR=0.741	GT:AD:DP:GQ:PL	0/1:0,6:17:59:720,253,205	17	0	1	1
chr2	32154594	32154594	A	G	UTR3	SPAST	NM_001363823:c.*98A>G;NM_001363875:c.*98A>G;NM_014946:c.*98A>G;NM_001377959:c.*222A>G;NM_199436:c.*98A>G	.	.	Spastic paraplegia 4, autosomal dominant, Autosomal dominant	145	1306	65	6	0	77	0.0286352	.	.	.	289207	not_provided|Hereditary_spastic_paraplegia_4|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0215655	.	.	.	.	.	.	.	.	0.010084	1559	154602	rs56272862	0.0593	0.0580	0.0614	0.0573	0.0766	0.0589	0.0588	0.0702	0.0678	0.0136	0.0333	0.0857	0	0.0609	0.0766	0.0685	0.0581	0.0124	0.0437	0.0438	0.0444	0.0429	0.0632	0.0428	0.0425	0.0616	0.0610	0.0130	0.0515	0.0390	0.0772	0.0002	0.0705	0.0272	0.0632	0.0468	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	495.83	16	chr2	32154594	.	A	G	495.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.345;DP=338;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=1.4;SOR=0.223	GT:AD:DP:GQ:PL	0/1:9,9:18:99:305,0,317	17	0	2	0
chr2	44280851	44280851	C	T	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon2:c.C566T:p.T189M	Cystinuria, Autosomal recessive, Autosomal dominant	10	1495	15	2	0	19	0.00631439	.	.	.	719883	Cystinuria|not_provided	Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.968	0.669249309455	0.0042	0.00119808	0.0026	0.0006	0.0026	0	0.0002	0.0039	0.0022	0.0015	0.0027037	418	154602	rs140317484	0.0039	0.0039	0.0038	0.0039	0.0081	0.0038	0.0038	0.0063	0.0056	0.0006	0.0023	0.0011	2.52e-05	0.0003	0.0081	0.0046	0.0031	0.0014	0.0029	0.0029	0.0030	0.0028	0.0048	0.0027	0.0026	0.0042	0.0041	0.0008	0.0011	0.0048	0.0003	0.0002	0.0002	0.0102	0.0047	0.0033	0.0008	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000002	0.62929	D	0.057373	1	0.81001	D	4.44	0.98786	H	-6.59	0.99734	D	-4.76	0.83625	D	0.753	0.76019	0.753	0.93827	D	0.990	0.99727	D	10	0.111916244	0.20973	T	0.669249	0.97238	D	0.968	0.99597	.	.	0.962578441827	0.96218	0.833905129635974	0.83349	0.0336267795191	0.03527	0.457308322191	0.32941	T	0.445912	0.99945	T	0.209523	0.74784	D	0.532194	0.95259	D	0.130563631088554	0.15434	T	0.973903	0.98076	D	0.83964694	0.86583	0.77218	0.86552	0.7815047	0.82748	0.7895046	0.87615	-10.176	0.75705	D	0.8433856664751872	0.91136	0.140	0.32054	B	.;.;.;.;.;.	.;.;.;.;.;.	5.116103	0.85548	28.6	0.99908951329891671	0.97875	0.97042	0.72354	D	AEFDBI	0.893492	0.83150	D	0.876648716003994	0.90571	10.464	0.742196447383394	0.85572	8.621012	0.999999722158397	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.74	4.74	0.59717	5.501000	0.66665	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.101	0.89434	848	0.35897	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic 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	0.007553	0.015152	0.005435	0.014620	0.000000	0.000000	0.006098	0.007576	0.02632	1001.33	38	chr2	44280851	.	C	T	1001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=717;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.407;SOR=0.844	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1015,0,904	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	1/1:0,154:154:99:5012,462,0	2	10	7	0
chr2	47414421	47414424	AAAA	-	intronic	MSH2	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 1, Autosomal dominant;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	286667	Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Breast_carcinoma	MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0036	0.0020	0.0042	0.0063	0.0066	0.0078	0.0166	0.0011319	175	154602	rs779102258	0.0889	0.0931	0.0876	0.0903	0.1203	0.0884	0.0882	0.1165	0.1149	0.0906	0.1040	0.0945	0.1203	0.1125	0.1019	0.0861	0.0943	0.0957	0.0071	0.0050	0.0070	0.0071	0.0207	0.0065	0.0063	0.0190	0.0184	0.0207	0	0.0022	0.0017	0.0006	0	0	0.0006	0.0051	0.0045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	356.85	20	chr2	47414420	.	TAAAA	T	356.85	.	AC=2;AF=0.5;AN=4;DP=513;ExcessHet=0;FS=0;InbreedingCoeff=0.134;MLEAC=6;MLEAF=1;MQ=60;QD=30.21;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,8:8:25:355,25,0	1	1	0	17
chr2	47463015	47463018	TTTG	-	intronic	MSH2	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 1, Autosomal dominant;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	405786	Hereditary_cancer-predisposing_syndrome|Muir-Torré_syndrome|Lynch_syndrome_1|not_specified|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided|Lynch_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144|MedGen:CN169374|MeSH:D003123,MedGen:C0009405|MedGen:C3661900|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0008	0	0	0	0	0	0.0011	0.0057	0.0006468	100	154602	rs1064793181	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	2.99e-05	0	0	0	0	0	9.898e-06	0.0004	0.0054	0.0002	0.0002	5.143e-05	0.0003	0.0048	0.0001	8.717e-05	0.0033	0.0028	0	0	0	0	0	0	0	0	0	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2376.29	42	chr2	47463014	.	CTTTG	C	2376.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=762;ExcessHet=0;FS=3.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.14;ReadPosRankSum=2.34;SOR=1.059	GT:AD:DP:GQ:PL	0/1:57,61:118:99:2390,0,2188	18	0	1	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	0/1:35,57:92:99:1993,0,1136	12	1	6	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	0/1:25,35:62:99:745,0,495	4	7	8	0
chr2	73385903	73385903	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.35_36insGGAGGA:p.E28_A29insEE,ALMS1:NM_015120:exon1:c.35_36insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	215261	not_specified|Alstrom_syndrome|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs193922695	0.0632	0.0483	0.0617	0.0645	0.1063	0.0626	0.0624	0.1033	0.1021	0.0218	0.1063	0.0554	0.0749	0.0494	0.0665	0.0566	0.0607	0.0967	0.0594	0.0601	0.0569	0.0622	0.1116	0.0584	0.0580	0.1033	0.1000	0.0227	0	0.1047	0.0698	0.0753	0.0617	0.0602	0.0672	0.0589	0.1116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	26989.6	33	chr2	73385903	.	T	TGGAGGA	26989.6	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.617;DP=903;ExcessHet=1.3;FS=3.645;InbreedingCoeff=-0.149;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=34.25;ReadPosRankSum=-0.523;SOR=1.337	GT:AD:DP:GQ:PL	0/1:2,20:44:99:1658,785,806	13	1	5	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	1/1:0,2:2:6:85,6,0	3	12	0	4
chr2	113063237	113063237	C	G	UTR3	IL36RN	NM_173170:c.*560C>G;NM_012275:c.*560C>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1358	52	16	96	0	208	0.666667	.	.	.	283621	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	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs2472188	0.6442	0.2093	0.6229	0.6642	0.8136	0.6347	0.6308	0.7836	0.7715	0.7306	0.7069	0.6489	0.6812	0.5876	0.7857	0.5765	0.6300	0.8136	0.6525	0.6525	0.6495	0.6556	0.8015	0.6491	0.6477	0.7804	0.7718	0.7072	0.7582	0.6636	0.6882	0.7068	0.6303	0.7381	0.6007	0.6873	0.8015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	280.15	1	chr2	113063237	.	C	G	280.15	.	AC=8;AF=0.8;AN=10;DP=18;ExcessHet=0;FS=0;InbreedingCoeff=0.41;MLEAC=16;MLEAF=1;MQ=60;QD=28.02;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	1	4	0	14
chr2	151494220	151494220	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.G18916A:p.A6306T,NEB:NM_001164507:exon174:c.G24520A:p.A8174T,NEB:NM_001164508:exon174:c.G24520A:p.A8174T,NEB:NM_001271208:exon175:c.G24625A:p.A8209T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	268544	Nemaline_myopathy_2|NEB-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0137481650275	0.0002	0.000199681	0.0005	0.0002	0.0004	0.0008	0.0005	0.0007	0	9.295e-05	0.0002781	43	154602	rs199937246	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0010	0.0009	0	0.0002	0.0021	0.0013	0.0002	0.0017	8.127e-05	0.0002	0.0001	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	0.0005	0.0014	0.0006	0.0002	0.0034	0.0001	0	0	0.518	0.22053	T	0.021	0.58089	D	0.441	0.35913	B	0.295	0.40843	B	0.000230	0.47286	U	0.000000	0.999779	0.25682	N	1.32	0.33002	L	3.41	0.06762	T	-0.51	0.18248	N	0.236	0.39659	-1.0309	0.20163	T	0.083	0.32556	T	10	0.01606229	0.00338	T	0.013748	0.33388	T	0.101	0.28911	.	.	0.254244900254	0.25046	0.3045127982899019	0.30364	0.0589775743183	0.06548	0.593151688576	0.51938	T	0.007275	0.42647	T	-0.468076	0.00874	T	-0.551554	0.17178	T	0.0387018168484422	0.03457	T	0.0378962	0.00365	T	0.042454317	0.06440	0.07351266	0.15982	0.042454317	0.06440	0.07351266	0.15982	-4.378	0.29257	T	.	.	0.078	0.06849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.510739	0.49159	22.7	0.99081564706982561	0.51978	0.89506	0.50014	D	AEFGBI	0.395881	0.47257	N	-0.00303373769510563	0.41719	2.500405	0.120164528702445	0.45583	2.818768	0.710884306126665	0.22818	0.615465	0.37627	0	0.588015	0.36545	0	0.608075	0.38828	0	0.655142	0.61905	0	.	.	5.96	5.09	0.68647	4.647000	0.61115	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0663:0.1236:0.8101:0.0	11.822	0.51521	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	2444.83	114	chr2	151494220	.	C	T	2444.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=815;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.492;SOR=0.679	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1183,0,1100	17	0	2	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	0/1:13,9:36:44:142,0,277	3	0	16	0
chr2	151687483	151687483	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon27:c.C2573T:p.A858V,NEB:NM_001164508:exon27:c.C2573T:p.A858V,NEB:NM_001271208:exon27:c.C2573T:p.A858V,NEB:NM_004543:exon27:c.C2573T:p.A858V	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	268543	Inborn_genetic_diseases|Nemaline_myopathy_2|NEB-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.0298449609549	8.1e-05	.	0.0002	0	0	0	0	0.0003	0	0	0.0001294	20	154602	rs372217127	8.62e-05	8.619e-05	8.713e-05	8.527e-05	0.0014	7.354e-05	6.904e-05	0.0007	0.0005	2.987e-05	8.945e-05	0.0021	0	0	0.0014	4.137e-05	0.0002	2.319e-05	8.546e-05	8.538e-05	6.426e-05	0.0001	0.0002	4.959e-05	3.964e-05	5.291e-05	2.836e-05	0	0	0.0002	0.0014	0	0	0	7.351e-05	0	0	0.358	0.40832	T	0.059	0.54159	T	0.621	0.39935	P	0.161	0.34794	B	0.000167	0.48594	N	0.176984	0.897018	0.38620	D	1.155	0.29575	L	3.3	0.06368	T	-1.53	0.39314	N	0.688	0.78072	-0.8385	0.52746	T	0.013	0.04938	T	10	0.13296977	0.25307	T	0.029845	0.52278	D	0.131	0.35738	.	.	0.439551795455	0.43578	0.21115558175969198	0.21031	0.288151895696	0.31219	0.546998202801	0.45433	T	0.027969	0.49585	T	-0.322218	0.06718	T	-0.452312	0.27441	T	0.122277095913887	0.14651	T	0.690331	0.38410	T	0.11576778	0.27314	0.14576612	0.34559	0.11576778	0.27314	0.14576612	0.34559	-1.662	0.02131	T	.	.	0.299	0.52905	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.446149	0.47969	22.5	0.72919763062883725	0.10143	0.96854	0.71299	D	AEFGBI	0.804499	0.72934	D	0.093954758176261	0.46180	2.862468	0.230024200417197	0.51521	3.333924	0.999999276966114	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.54	4.67	0.58089	5.419000	0.66174	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0779:0.0:0.922:0.0	13.173	0.59033	872	0.31118	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2144.33	33	chr2	151687483	.	G	A	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.373;DP=796;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.73;SOR=0.626	GT:AD:DP:GQ:PL	0/1:75,83:158:99:2158,0,1903	18	0	1	0
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	14341.5	13	chr2	169294717	.	TAAA	T	14341.5	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.42;DP=1669;ExcessHet=0;FS=2.109;InbreedingCoeff=nan;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=30.19;ReadPosRankSum=0.704;SOR=1.372	GT:AD:DP:GQ:PL	0/1:0,8:22:95:615,163,95	7	0	12	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	0/1:28,29:57:99:624,0,617	7	2	10	0
chr2	174750181	174750181	A	-	intronic	CHRNA1	.	.	.	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 1A, slow-channel, Autosomal dominant;Myasthenic syndrome, congenital, 1B, fast-channel, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285836	Congenital_Myasthenic_Syndrome,_Dominant/Recessive|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MedGen:CN239246|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1009	0.2306	0.0531	0.0740	0.0576	0.0815	0.1098	0.1662	0.0003842	10	26028	rs67309103	0.1040	0.1178	0.1022	0.1057	0.2650	0.1035	0.1033	0.2601	0.2580	0.2650	0.0637	0.0864	0.1054	0.0524	0.1415	0.0962	0.1146	0.1809	0.1411	0.1427	0.1412	0.1409	0.3022	0.1394	0.1388	0.2976	0.2958	0.3022	0.0573	0.0874	0.0715	0.0814	0.0376	0.1514	0.0761	0.1283	0.2175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	28915.5	65	chr2	174750180	.	CA	C	28915.5	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.339;DP=1602;ExcessHet=0;FS=1.661;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=26.38;ReadPosRankSum=0.186;SOR=0.504	GT:AD:DP:GQ:PL	0/1:1,8:40:46:1017,626,542	10	0	9	0
chr2	178534724	178534724	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G74696A:p.R24899H,TTN:NM_133432:exon187:c.G75071A:p.R25024H,TTN:NM_133437:exon187:c.G75272A:p.R25091H,TTN:NM_133378:exon307:c.G94187A:p.R31396H,TTN:NM_001256850:exon308:c.G96968A:p.R32323H,TTN:NM_001267550:exon358:c.G101891A:p.R33964H	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	1494	27	0	0	27	0.00895522	.	.	.	56807	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	.	0.0014	0.00599042	0.0044	0.0002	0.0011	0	0	0.0018	0.0022	0.0238	0.0037516	580	154602	rs55669553	0.0022	0.0022	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	7.558e-05	7.493e-05	0.0049	0.0010	0.0027	0.0214	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0244	0.0	0.91255	D	.	.	.	0.105	0.25993	B	0.019	0.18783	B	.	.	.	.	0.999996	0.58761	D	2.965	0.85198	M	0.72	0.50976	T	-3.49	0.69714	D	0.24	0.37509	-0.9165	0.46024	T	0.142	0.46257	T	9	0.0036860704	0.00068	T	.	.	.	0.089	0.25827	.	.	0.202086224978	0.19791	.	.	0.109101829379	0.12303	0.489401757717	0.37355	T	.	.	.	-0.369326	0.03628	T	-0.286368	0.46149	T	0.110552963806189	0.13480	T	0.870213	0.57716	D	.	.	.	.	.	.	.	.	-5.952	0.45876	T	.	.	0.507	0.64884	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.452042	0.31577	18.78	0.92742931441369314	0.22247	0.97406	0.74547	D	AEFBI	.	.	.	0.114307564429706	0.47130	2.943047	0.267253383658903	0.53636	3.531681	0.999999999763111	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	6.02	5.14	0.70008	5.062000	0.64156	.	.	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9341:0.0:0.0659	15.569	0.76062	373	0.84140	.;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	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	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.05263	4110.83	33	chr2	178534724	.	C	T	4110.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.67;DP=1847;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=1.53;SOR=0.668	GT:AD:DP:GQ:PL	0/1:64,66:130:99:2046,0,1711	17	0	2	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	1/0:5,8:30:99:646,316,499	17	0	2	0
chr2	210648034	210648034	C	T	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon26:c.C3313T:p.P1105S,CPS1:NM_001122633:exon27:c.C3313T:p.P1105S,CPS1:NM_001369256:exon27:c.C3346T:p.P1116S,CPS1:NM_001369257:exon28:c.C3313T:p.P1105S	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	883654	Congenital_hyperammonemia,_type_I|CPS1-related_disorder|not_provided	MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.494	0.0964869829126	.	.	0.0001	0	0	0	0	1.5e-05	0	0.0007	8.41e-05	13	154602	rs761921978	5.678e-05	5.678e-05	4.22e-05	7.151e-05	0.0010	4.677e-05	4.302e-05	0.0006	0.0006	0	0	0	0	0	0.0010	4.497e-06	6.624e-05	0.0008	1.314e-05	1.313e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.528	0.07093	T	0.643	0.07059	T	0.238	0.30817	B	0.126	0.32692	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.605	0.40863	L	-4.37	0.97343	D	-0.63	0.28084	N	0.712	0.71498	0.839	0.94896	D	0.885	0.96185	D	10	0.37321413	0.53635	T	0.096487	0.76611	D	0.494	0.77973	0.34	0.33141	0.955078305994	0.95460	0.8493174372997226	0.84893	0.786206304104	0.65525	0.758834838867	0.75756	T	0.584738	0.86456	D	0.0662238	0.60386	T	0.240566	0.85174	D	0.154851795547265	0.17483	T	0.915508	0.69822	D	0.29826957	0.52748	0.21811399	0.46503	0.29826957	0.52748	0.21811399	0.46502	-7.069	0.54537	T	0.21552923449718284	0.28978	0.253	0.49018	B	.;.;.	.;.;.	3.403815	0.47185	22.4	0.97141732595482599	0.32547	0.98567	0.84178	D	AEFBI	0.938033	0.93663	D	0.275486991549162	0.54909	3.655521	0.410444951496737	0.62213	4.43322	0.99999998392425	0.74766	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	5.86	5.86	0.93936	5.809000	0.68843	7.703000	0.66393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.188	0.98226	398	0.82839	.;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.000000	0.002725	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	1692.83	34	chr2	210648034	.	C	T	1692.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.033;DP=737;ExcessHet=0.119;FS=0.657;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.389;SOR=0.628	GT:AD:DP:GQ:PL	0/1:47,35:82:99:856,0,1244	17	0	2	0
chr2	214792459	214792460	AA	-	intronic	BARD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	285273	Breast_neoplasm|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided	Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1322	0.1276	0.1831	0.0588	0.0921	0.1364	0.1358	0.1276	0.0001153	3	26028	rs747897450	0.0862	0.0980	0.0861	0.0862	0.1229	0.0857	0.0856	0.1192	0.1176	0.0813	0.1229	0.0925	0.0282	0.0637	0.1003	0.0873	0.0914	0.0932	0.0618	0.0596	0.0612	0.0624	0.0948	0.0607	0.0602	0.0904	0.0887	0.0529	0.0078	0.0948	0.0589	0.0009	0.0571	0.0720	0.0659	0.0656	0.0521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	1624.77	5	chr2	214792458	.	TAA	T	1624.77	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-0.319;DP=243;ExcessHet=0.705;FS=2.789;InbreedingCoeff=0.0344;MLEAC=5;MLEAF=0.156;MQ=60;MQRankSum=0;QD=17.85;ReadPosRankSum=0.108;SOR=1.344	GT:AD:DP:GQ:PL	0/1:1,9:21:99:504,165,147	12	1	3	3
chr2	219218298	219218298	C	-	exonic	ABCB6	.	frameshift deletion	ABCB6:NM_001349828:exon1:c.376delG:p.V126Sfs*78,ABCB6:NM_005689:exon1:c.376delG:p.V126Sfs*124	Dyschromatosis universalis hereditaria 3, Autosomal dominant;Microphthalmia, isolated, with coloboma 7, Autosomal dominant;Pseudohyperkalemia, familial, 2, due to red cell leak, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1019575	not_provided|ABCB6-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0001	0.0014	0	0	0	0	0	0	3.84e-05	1	26028	rs377591749	4.587e-05	4.583e-05	4.632e-05	4.541e-05	0.0016	3.664e-05	3.35e-05	0.0013	0.0011	0.0016	6.708e-05	0	0	0	0	0	0.0002	0	0.0003	0.0003	0.0002	0.0004	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	6.533e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2507.29	37	chr2	219218297	.	AC	A	2507.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=843;ExcessHet=0;FS=4.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-0.896;SOR=1.061	GT:AD:DP:GQ:PL	0/1:84,74:158:99:2521,0,2915	18	0	1	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	1/1:0,2:2:6:83,6,0	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	0/1:9,10:19:99:318,0,282	7	3	9	0
chr3	10064724	10064724	C	T	intronic	FANCD2	.	.	.	Fanconi anemia, complementation group D2, Autosomal recessive	0	1353	169	0	0	169	0.0587826	0	0.002	.	215265	Fanconi_anemia_complementation_group_A|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Fanconi_anemia_complementation_group_D2|Fanconi_anemia|not_specified	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0063	0.0008	0.0058	0.0009	0.0020	0.0022	0.0013	5.82e-05	9	154602	rs4019784	0.0006	0.0104	0.0006	0.0006	0.0171	0.0006	0.0006	0.0141	0.0130	0.0010	0.0002	0.0004	0.0028	0.0031	0.0171	0.0003	0.0011	0.0006	0.0021	0.0255	0.0020	0.0022	0.0034	0.0019	0.0018	0.0029	0.0027	0.0034	0.0012	0.0025	0.0013	0.0032	0.0020	0	0.0012	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	157.83	36	chr3	10064724	.	C	T	157.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.35;DP=773;ExcessHet=0.119;FS=10.122;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.1;MQRankSum=-5.577;QD=1.34;ReadPosRankSum=0.548;SOR=2.004	GT:AD:DP:GQ:PL	0/1:59,8:67:99:124,0,1608	17	0	2	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	1/1:0,25:25:75:.:.:1070,75,0:.	3	10	6	0
chr3	81499127	81499127	G	A	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon15:c.C2035T:p.R679C	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	296321	not_provided|Adult_polyglucosan_body_disease|Glycogen_storage_disease,_type_IV|Glycogen_storage_disease_IV,_classic_hepatic	MedGen:C3661900|MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:C1856301	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.453	0.0894280177662	.	0.00119808	0.0012	0	0.0006	0.0006	0	0.0001	0.0017	0.0068	0.0006856	106	154602	rs202158511	0.0004	0.0004	0.0003	0.0005	0.0040	0.0004	0.0004	0.0036	0.0035	3.028e-05	0.0002	0	2.536e-05	0	0.0005	0.0002	0.0004	0.0040	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	0	0	0.0003	0	0.0002	0	0	0.0002	0	0.0027	0.03	0.46129	D	0.059	0.45961	T	0.562	0.38380	P	0.495	0.47504	P	0.000042	0.53742	D	0.126798	0.999864	0.50061	D	2.915	0.84231	M	-1.26	0.79176	T	-5.77	0.87911	D	0.393	0.43417	-0.1894	0.77943	T	0.446	0.78197	T	10	0.011604905	0.00253	T	0.089428	0.75325	D	0.453	0.75279	.	.	0.856832758723	0.85544	0.693656659411994	0.69305	0.0542229240898	0.05990	0.359625995159	0.19331	T	0.831275	0.95974	D	-0.259618	0.12945	T	-0.145981	0.59598	T	0.237512204736352	0.22304	T	0.827017	0.49049	T	0.5143306	0.67932	0.3563095	0.61144	0.61440486	0.73465	0.34849802	0.60488	-10.366	0.76074	D	0.2623384385643773	0.35405	0.275	0.50844	B	.;.	.;.	4.936856	0.81443	27.5	0.99835171130951428	0.91628	0.90042	0.50915	D	AEFBI	0.592344	0.58809	D	0.17694476689029	0.50094	3.202732	0.152404689326532	0.47269	2.959721	0.986760971866417	0.31121	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.35	4.46	0.53567	4.304000	0.58899	4.996000	0.46562	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0886:0.0:0.7469:0.1645	7.372	0.25978	721	0.55360	Alpha-amylase/branching enzyme, C-terminal all beta;Alpha-amylase/branching enzyme, C-terminal all beta	.	.	.	.	.	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	1094.33	35	chr3	81499127	.	G	A	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.931;DP=718;ExcessHet=0;FS=6.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.957;SOR=1.42	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1108,0,1274	18	0	1	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	0/1:209,78:387:99:3644,0,8758	14	0	5	0
chr3	149172318	149172318	-	CA	UTR3	HPS3	NM_001308258:c.*96_*97insCA;NM_032383:c.*96_*97insCA	.	.	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	292950	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs374839757	0.0458	0.0523	0.0464	0.0454	0.0713	0.0453	0.0451	0.0671	0.0655	0.0713	0.0292	0.0478	0.0636	0.0459	0.0364	0.0451	0.0499	0.0438	0.0568	0.0577	0.0571	0.0565	0.0857	0.0558	0.0553	0.0833	0.0823	0.0857	0.0906	0.0345	0.0692	0.0464	0.0408	0.0556	0.0475	0.0489	0.0464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1962.02	4	chr3	149172318	.	T	TCA	1962.02	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.191;DP=258;ExcessHet=1.6165;FS=0;InbreedingCoeff=-0.0375;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=0.66;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,3:12:47:.:.:47,0,220:.	16	0	3	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	5192.91	35	chr3	160258644	.	G	GA	5192.91	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.423;DP=895;ExcessHet=4.0818;FS=0;InbreedingCoeff=-0.2179;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.04;SOR=0.649	GT:AD:DP:GQ:PL	0/1:23,18:41:99:387,0,493	9	1	9	0
chr3	190388181	190388181	G	T	UTR5	CLDN16	NM_006580:c.-149G>T	.	.	Hypomagnesemia 3, renal, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	2122644	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.107022260125	7.7e-05	.	0.0002	0	0.0003	0	0	6.028e-05	0	0.0008	0.0001294	20	154602	rs144731880	6.772e-05	6.772e-05	5.581e-05	7.976e-05	0.0010	5.67e-05	5.261e-05	0.0005	0.0003	0	0.0003	0	5.041e-05	0	0.0010	2.518e-05	0.0002	0.0004	2.629e-05	2.627e-05	3.855e-05	1.346e-05	6.545e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.545e-05	0	0	0	0	4.41e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	0.877	0.59353	P	0.467	0.59984	P	0.234763	0.15842	N	0.571130	1	0.08975	N	0.55	0.14455	N	-2.9	0.93587	D	-0.36	0.28497	N	0.647	0.65844	0.010	0.82453	D	0.722	0.90467	D	10	0.41361967	0.56393	T	0.107022	0.78291	D	0.289	0.60808	.	.	0.914104472341	0.91324	0.12199599687044979	0.12126	0.298304977173	0.32213	0.300534129143	0.10481	T	0.104206	0.41356	T	-0.149145	0.28447	T	-0.0956356	0.63734	T	0.0389147722872734	0.03495	T	0.687331	0.29630	T	0.080536395	0.18459	0.10977059	0.26459	0.087419026	0.20355	0.13799584	0.32968	-3.76	0.20208	T	.	.	0.172	0.48541	B	.;.	.;.	1.252029	0.16489	12.57	0.94730990567258611	0.25412	0.42055	0.26793	N	AEFGBCI	0.084834	0.17196	N	-0.284108277568926	0.29761	1.653356	-0.381358659441211	0.25553	1.40596	0.988732218960442	0.31611	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.03	2.22	0.27116	1.058000	0.30114	7.486000	0.59313	0.676000	0.76740	0.671000	0.28357	1.000000	0.68203	0.070000	0.16646	0.3152:0.0:0.6848:0.0	8.533	0.32505	755	0.51144	.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1599.33	34	chr3	190388181	.	G	T	1599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.548;DP=767;ExcessHet=0;FS=3.23;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.64;SOR=0.46	GT:AD:DP:GQ:PL	0/1:74,62:136:99:1613,0,1984	18	0	1	0
chr4	670239	670239	-	T	UTR3	PDE6B	NM_000283:c.*132_*133insT;NM_001145291:c.*132_*133insT;NM_001379247:c.*132_*133insT;NM_001379246:c.*132_*133insT;NM_001145292:c.*132_*133insT;NM_001350154:c.*25_*26insT;NM_001350155:c.*25_*26insT	.	.	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299220	Congenital_Stationary_Night_Blindness,_Dominant|not_provided|Retinitis_Pigmentosa,_Recessive	MedGen:CN239263|MedGen:CN517202|MedGen:CN239466	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0355	0.0536	0.0324	0.0244	0.0022	0.0236	0.0125	0.0772	0.0001537	4	26028	rs775283243	0.2040	0.2154	0.2059	0.2023	0.2177	0.2032	0.2028	0.2121	0.2117	0.2177	0.1879	0.2013	0.1159	0.1601	0.1603	0.2131	0.2013	0.1690	0.1202	0.1373	0.1255	0.1144	0.1627	0.1186	0.1180	0.1591	0.1577	0.1627	0.0849	0.0823	0.1257	0.0125	0.0550	0.1120	0.1261	0.1089	0.0417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	537.55	3	chr4	670239	.	A	AT	537.55	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.366;DP=369;ExcessHet=2.8292;FS=1.368;InbreedingCoeff=-0.1279;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=-0.319;SOR=0.426	GT:AD:DP:GQ:PL	0/1:5,3:8:36:36,0,67	14	0	5	0
chr4	5625766	5625766	G	T	exonic	EVC2	.	synonymous SNV	EVC2:NM_001166136:exon13:c.C1789A:p.R597R,EVC2:NM_147127:exon13:c.C2029A:p.R677R	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	10	1501	11	0	0	11	0.00365085	.	.	YES	237142	not_provided|Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|not_specified|EVC2-related_disorder	MedGen:C3661900|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0058	0.00279553	0.0038	0.0018	0.0026	0.0001	0.0005	0.0056	0.0022	0.0019	0.0040232	622	154602	rs73198165	0.0063	0.0063	0.0064	0.0061	0.0076	0.0062	0.0061	0.0074	0.0074	0.0010	0.0026	0.0005	0.0001	0.0011	0.0016	0.0076	0.0055	0.0019	0.0036	0.0036	0.0042	0.0031	0.0064	0.0034	0.0033	0.0059	0.0057	0.0013	0	0.0026	0.0009	0.0004	0.0004	0	0.0064	0.0052	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.004028	0.005051	0.001359	0.000000	0.000000	0.008621	0.009146	0.011364	0.02632	1295.33	34	chr4	5625766	.	G	T	1295.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=731;ExcessHet=0;FS=1.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.55;SOR=0.87	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1309,0,1187	18	0	1	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	1/1:0,111:111:99:3423,333,0	6	5	8	0
chr4	13544329	13544329	G	C	exonic	NKX3-2	.	nonsynonymous SNV	NKX3-2:NM_001189:exon1:c.C86G:p.A29G	Spondylo-megaepiphyseal-metaphyseal dysplasia, Autosomal recessive	4	1516	2	0	0	2	0.000659196	.	.	.	734467	not_provided|NKX3-2-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	.	.	0.00279553	0.0035	0	0.0026	0	0	0	0	0.0087	0.0008085	125	154602	rs577849807	0.0005	0.0005	0.0003	0.0008	0.0087	0.0005	0.0005	0.0082	0.0080	0	0	0	0	0	0.0002	0	0.0007	0.0087	0.0003	0.0003	0.0001	0.0005	0.0095	0.0002	0.0002	0.0073	0.0066	0	0	0	0	0	0	0	0	0	0.0095	0.13	0.26740	T	0.13	0.34716	T	0.039	0.21116	B	0.019	0.18783	B	0.226568	0.16015	N	0.581149	1	0.08975	N	1.1	0.28011	L	-2.99	0.92108	D	-0.24	0.10833	N	0.072	0.04547	-0.5476	0.66877	T	0.472	0.79695	T	10	0.004713297	0.00099	T	.	.	.	0.077	0.22490	0.213	0.13210	0.833357348621	0.83177	0.09593443808794916	0.09525	0.331067288021	0.35186	0.778569400311	0.78712	T	0.083744	0.37123	T	-0.384987	0.02896	T	-0.320234	0.42549	T	0.0120307067496799	0.00190	T	0.430157	0.11673	T	0.119747125	0.28191	0.13623896	0.32597	0.10218244	0.24143	0.12763008	0.30719	-3.476	0.16098	T	.	.	0.075	0.05447	B	.	.	1.410485	0.18257	13.64	0.96805438906131724	0.31165	0.38339	0.25966	N	AEFDBHCI	0.174427	0.30155	N	-0.773793800303906	0.13995	0.6936436	-0.705951296796284	0.16813	0.8911519	0.999968245007178	0.48965	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.27	2.47	0.29113	1.111000	0.30773	0.000000	0.13247	0.571000	0.28931	0.010000	0.18352	0.981000	0.30433	0.900000	0.43643	0.205:0.0:0.795:0.0	9.072	0.35661	748	0.52143	.	.	.	.	.	.	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	0.001597	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1144.33	36	chr4	13544329	.	G	C	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.213;DP=901;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.709;SOR=0.677	GT:AD:DP:GQ:PL	0/1:66,51:117:99:1158,0,1587	18	0	1	0
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.7632	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	0/1:85,95:180:99:2589,0,2368	1	11	7	0
chr4	52024120	52024120	G	A	exonic	SGCB	.	nonsynonymous SNV	SGCB:NM_000232:exon6:c.C794T:p.T265I	Muscular dystrophy, limb-girdle, type 2E, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	266358	Primary_dilated_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E|not_provided	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011423,MedGen:C1858593,OMIM:604286,Orphanet:119|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.312	0.0510429090072	0.0002	0.00159744	0.0001	0.0014	0	0	0	0	0	0	0.0001876	29	154602	rs116214830	5.131e-05	5.267e-05	4.901e-05	5.363e-05	0.0013	4.192e-05	3.823e-05	0.0010	0.0009	0.0013	0	0	0	0	0.0009	6.295e-06	0.0003	2.319e-05	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0007	0.0007	0.0010	0	0	0	0	0	0	0	0	0	0.073	0.34800	T	0.285	0.21343	T	0.049	0.22227	B	0.14	0.33554	B	0.008581	0.30776	N	0.403711	0.951967	0.37763	D	1.355	0.33814	L	-2.38	0.88298	D	0.09	0.05917	N	0.18	0.19459	0.417	0.89353	D	0.748	0.91415	D	10	0.015626311	0.00328	T	0.051043	0.64497	D	0.312	0.63375	.	.	0.967687927552	0.96734	0.40271667531533534	0.40187	0.0779575711569	0.08777	0.440812587738	0.30688	T	0.540314	0.84249	D	-0.272724	0.11455	T	-0.210077	0.53690	T	0.158155686378565	0.17734	T	0.885211	0.61002	D	0.0595058	0.12101	0.084697574	0.19502	0.0595058	0.12100	0.084697574	0.19501	-6.008	0.46347	T	0.07645337768492003	0.03493	0.145	0.32030	B	.	.	3.179211	0.43146	21.7	0.91735849286671767	0.21034	0.99363	0.95047	D	AEFBI	0.861843	0.77999	D	-0.0420215702847208	0.39960	2.365044	0.0707083143562036	0.43082	2.61751	0.999999999987702	0.74766	0.706548	0.73137	0	0.659464	0.62310	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	9.769000	0.98151	11.827000	0.97409	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.432000	0.27494	0.0:0.0:1.0:0.0	18.618	0.91264	.	.	.	.	.	.	.	.	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	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1125.33	34	chr4	52024120	.	G	A	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.689;DP=713;ExcessHet=0;FS=1.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.836;SOR=0.512	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1139,0,1327	18	0	1	0
chr4	127687772	127687772	G	A	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon8:c.G1354A:p.A452T	.	426	1082	13	1	0	15	0.00688389	.	.	.	496110	not_specified|INTU-related_disorder|Growth_delay|Nephronophthisis|not_provided	MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.00553893462461	0.0016	0.00219649	0.0030	0.0003	0.0007	0	0.0011	0.0026	0.0044	0.0099	0.002846	440	154602	rs150681845	0.0024	0.0025	0.0022	0.0027	0.0096	0.0024	0.0024	0.0091	0.0088	0.0002	0.0010	0.0015	0	0.0012	0.0059	0.0022	0.0028	0.0096	0.0019	0.0019	0.0018	0.0020	0.0077	0.0017	0.0016	0.0057	0.0050	0.0003	0	0.0042	0.0029	0	0.0009	0.0068	0.0022	0.0005	0.0077	0.224	0.18691	T	0.581	0.08476	T	0.145	0.27759	B	0.022	0.19653	B	0.224482	0.16061	N	0.617470	1	0.08975	N	1.495	0.37439	L	1.69	0.27032	T	-0.35	0.12847	N	0.136	0.13341	-1.0237	0.22508	T	0.030	0.13023	T	10	0.004006952	0.00077	T	0.005539	0.14288	T	0.007	0.00512	.	.	0.0806252709748	0.07271	0.5336723275441648	0.53292	0.108671175235	0.12253	0.347697496414	0.17582	T	0.211077	0.57175	T	-0.65973	0.00063	T	-0.714036	0.05089	T	0.00120420442747127	0.00012	T	0.560744	0.19617	T	0.023815487	0.01154	0.0425284	0.05086	0.02347175	0.01090	0.040840775	0.04505	-3.489	0.16278	T	0.14641918434712936	0.16887	0.068	0.02894	B	.	.	0.568383	0.09367	6.149	0.87625570800187447	0.17363	0.06520	0.12531	N	AEFBIJ	0.038733	0.05523	N	-1.2388396984353	0.04448	0.2007873	-1.23549003762553	0.05349	0.2546582	0.997694107069416	0.35915	0.615465	0.37627	0	0.563428	0.19063	0	0.616094	0.41390	0	0.655142	0.61905	0	.	.	5.01	1.29	0.20717	0.019000	0.13337	0.523000	0.19181	-1.585000	0.00913	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.2914:0.1343:0.5743:0.0	6.222	0.19899	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.007576	0.02632	425.33	34	chr4	127687772	.	G	A	425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=673;ExcessHet=0;FS=6.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-0.618;SOR=1.73	GT:AD:DP:GQ:PL	0/1:23,18:41:99:439,0,575	18	0	1	0
chr4	153703504	153703504	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N	.	433	374	514	201	0	916	0.550481	.	.	.	3197327	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4947	0.414736	0.4113	0.6113	0.3166	0.2941	0.3755	0.4353	0.3833	0.3322	0.410745	63502	154602	rs3804099	0.4315	0.4315	0.4342	0.4288	0.6172	0.4306	0.4302	0.6102	0.6073	0.6172	0.3330	0.4315	0.3037	0.3765	0.4539	0.4448	0.4302	0.3318	0.4694	0.4697	0.4773	0.4612	0.6193	0.4665	0.4653	0.6129	0.6103	0.6193	0.3282	0.3800	0.4441	0.2870	0.3791	0.4592	0.4393	0.4748	0.3266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.447130	0.444444	0.479620	0.485380	0.650000	0.500000	0.384146	0.409091	0.3947	26831.8	169	chr4	153703504	.	T	C	26831.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.322;DP=2021;ExcessHet=1.2994;FS=0;InbreedingCoeff=0.0087;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-0.163;SOR=0.709	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1722,0,1590	7	3	9	0
chr4	153704257	153704257	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T1350C:p.S450S,TLR2:NM_001318790:exon3:c.T1350C:p.S450S,TLR2:NM_001318791:exon3:c.T1350C:p.S450S,TLR2:NM_001318793:exon3:c.T1350C:p.S450S,TLR2:NM_001318795:exon3:c.T1350C:p.S450S,TLR2:NM_001318796:exon3:c.T1350C:p.S450S,TLR2:NM_003264:exon3:c.T1350C:p.S450S,TLR2:NM_001318787:exon4:c.T1350C:p.S450S	.	422	830	239	31	0	301	0.153493	.	.	.	3196679	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0638	0.108427	0.0914	0.0510	0.0657	0.2642	0.0363	0.0696	0.0727	0.1555	0.0886664	13708	154602	rs3804100	0.0817	0.0817	0.0794	0.0840	0.2792	0.0813	0.0811	0.2749	0.2731	0.0504	0.0667	0.0582	0.2792	0.0355	0.1245	0.0729	0.0862	0.1536	0.0710	0.0711	0.0690	0.0731	0.2543	0.0699	0.0695	0.2429	0.2383	0.0531	0.0110	0.0704	0.0646	0.2543	0.0333	0.1224	0.0691	0.0833	0.1486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.106244	0.050505	0.091033	0.093567	0.200000	0.129310	0.128049	0.151515	0.1053	7513.43	75	chr4	153704257	.	T	C	7513.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.929;DP=1416;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.42;SOR=0.717	GT:AD:DP:GQ:PL	0/1:82,73:155:99:1864,0,2131	15	0	4	0
chr5	236472	236472	G	T	exonic	SDHA	.	synonymous SNV	SDHA:NM_001294332:exon9:c.G1161T:p.L387L,SDHA:NM_001330758:exon10:c.G1305T:p.L435L,SDHA:NM_004168:exon10:c.G1305T:p.L435L	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1450	67	5	0	77	0.025865	.	.	YES	226823	Mitochondrial_complex_II_deficiency,_nuclear_type_1|Paragangliomas_5|Dilated_cardiomyopathy_1GG|Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Leigh_syndrome	MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0146	0.0151757	0.0193	0.0025	0.0080	0	0.0364	0.0235	0.0121	0.0242	0.0176582	2730	154602	rs35964044	0.0163	0.0163	0.0157	0.0169	0.0373	0.0162	0.0161	0.0332	0.0317	0.0030	0.0103	0.0466	5.039e-05	0.0369	0.0373	0.0149	0.0201	0.0253	0.0154	0.0154	0.0142	0.0167	0.0251	0.0149	0.0147	0.0214	0.0201	0.0026	0	0.0184	0.0467	0.0002	0.0369	0.0102	0.0182	0.0227	0.0251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.035098	0.040541	0.028767	0.047826	0.000000	0.026786	0.020408	0.054622	0.07895	3868.79	35	chr5	236472	.	G	T	3868.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.986;DP=843;ExcessHet=0.3672;FS=1.546;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.31;MQRankSum=0.127;QD=14.12;ReadPosRankSum=-0.095;SOR=0.59	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1179,0,1113	16	0	3	0
chr5	256320	256321	CT	-	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	2	837	682	1	0	684	0.290076	.	.	.	297301	SDHA-related_disorder|Mitochondrial_complex_II_deficiency,_nuclear_type_1|not_provided|Leigh_syndrome|Paragangliomas_5|Pheochromocytoma|Hereditary_cancer-predisposing_syndrome|not_specified	.|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.499e-05	0	0	0.0031889	83	26028	rs372662724	0.0587	0.1488	0.0629	0.0545	0.0712	0.0583	0.0582	0.0708	0.0706	0.0457	0.0112	0.0178	0.0073	0.0091	0.0398	0.0712	0.0454	0.0146	0.0009	0.0171	0.0008	0.0010	0.0012	0.0007	0.0007	0.0009	0.0008	0.0012	0.0012	0.0010	0.0003	0.0004	0.0010	0.0035	0.0007	0.0016	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	4256.78	157	chr5	256319	.	ACT	A	4256.78	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.636;DP=2025;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-12.78;QD=2.85;ReadPosRankSum=0.587;SOR=0.721	GT:AD:DP:GQ:PL	0/1:157,29:186:99:721,0,6483	10	0	9	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	0/1:8,6:30:13:279,0,382	7	0	12	0
chr5	37182760	37182760	C	T	exonic	CPLANE1	.	synonymous SNV	CPLANE1:NM_001384732:exon26:c.G5421A:p.K1807K,CPLANE1:NM_023073:exon26:c.G5421A:p.K1807K	.	8	1456	56	2	0	60	0.0201884	0.2161	0.508	.	167888	not_specified|not_provided|Joubert_syndrome_17	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0051	0.00599042	0.0094	0.0009	0.0045	0	0.0060	0.0116	0.0112	0.0162	0.0068369	1057	154602	rs149313666	0.0065	0.0066	0.0062	0.0068	0.0162	0.0064	0.0063	0.0135	0.0130	0.0009	0.0038	0.0194	0	0.0051	0.0162	0.0061	0.0072	0.0139	0.0052	0.0052	0.0051	0.0054	0.0129	0.0049	0.0048	0.0103	0.0094	0.0008	0.0340	0.0036	0.0219	0	0.0047	0.0205	0.0069	0.0076	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.011593	0.000000	0.008152	0.005882	0.000000	0.000000	0.012195	0.041667	0.05263	2281.83	35	chr5	37182760	.	C	T	2281.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.86;DP=778;ExcessHet=0.119;FS=2.668;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.627;SOR=0.518	GT:AD:DP:GQ:PL	0/1:50,33:83:99:829,0,1328	17	0	2	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	0/1:3,12:32:99:.:.:625,258,409:.	6	0	13	0
chr5	71599672	71599672	G	C	exonic	MCCC2	.	nonsynonymous SNV	MCCC2:NM_001363147:exon4:c.G295C:p.E99Q,MCCC2:NM_022132:exon4:c.G295C:p.E99Q	3-Methylcrotonyl-CoA carboxylase 2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	16959	3-methylcrotonyl-CoA_carboxylase_2_deficiency|Methylcrotonyl-CoA_carboxylase_deficiency|not_provided	MONDO:MONDO:0008862,MedGen:C1859499,OMIM:210210,Orphanet:6|MONDO:MONDO:0018950,MedGen:C4551505,OMIM:PS210200,Orphanet:6|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.923	0.413832839413	0.0002	0.000399361	2.473e-05	0	0	0	0	4.497e-05	0	0	3.88e-05	6	154602	rs119103219	6.431e-05	6.43e-05	6.535e-05	6.326e-05	8.962e-05	5.362e-05	4.977e-05	6.522e-05	6.082e-05	8.962e-05	2.236e-05	0	0	0	0	7.915e-05	3.312e-05	0	0.0002	0.0002	0.0002	9.412e-05	8.821e-05	0.0001	8.722e-05	3.762e-05	2.575e-05	2.409e-05	0.0176	0	0	0	0	0	8.821e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.693	0.55135	P	0.618	0.51338	P	0.000000	0.84330	D	0.000000	1	0.81001	A	4.15	0.97575	H	-5.72	0.99296	D	-2.82	0.59710	D	0.927	0.97643	1.083	0.98981	D	0.981	0.99408	D	9	0.37141448	0.53504	T	0.413833	0.93654	D	0.923	0.98079	.	.	0.99391786001	0.99385	0.9702834571895582	0.97017	0.521547162058	0.49923	0.653680443764	0.60509	T	0.851809	0.99297	D	0.460347	0.92942	D	0.603776	0.97285	D	0.997648179531097	0.92063	D	0.995867	0.98887	D	0.8937409	0.90830	0.8485695	0.91409	0.89264756	0.90736	0.8884958	0.94161	-13.745	0.92198	D	0.6440967337849084	0.71523	0.592	0.72593	P	.;.;.	.;.;.	5.042832	0.83940	28.2	0.9975439773877528	0.84537	0.98856	0.87762	D	AEFBI	0.919774	0.89079	D	0.911538934265581	0.92315	11.35261	0.890215428719	0.95132	13.33995	0.999999999999954	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.02	6.02	0.97559	9.271000	0.94922	11.775000	0.95959	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.306	0.94151	425	0.81160	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2205.81	34	chr5	71599672	.	G	C	2205.81	.	AC=2;AF=0.053;AN=38;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.97;SOR=1.131	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2233,207,0	18	1	0	0
chr5	137621778	137621779	AC	-	UTR3	KLHL3	NM_001257194:c.*320_*319delGT;NM_001257195:c.*320_*319delGT;NM_017415:c.*320_*319delGT	.	.	Pseudohypoaldosteronism, type IID, Autosomal recessive, Autosomal dominant	198	17	1	10	0	21	0.381818	.	.	.	295447	not_provided|Autosomal_dominant_pseudohypoaldosteronism_type_1	MedGen:C3661900|MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001229	19	154602	rs3839339	0.5955	0.4913	0.5950	0.5960	0.6139	0.5923	0.5910	0.6098	0.6081	0.5778	0.5607	0.5865	0.4989	0.6331	0.5928	0.6139	0.5961	0.5130	0.8291	0.8282	0.8340	0.8240	0.8789	0.8253	0.8237	0.8730	0.8705	0.8015	0.9372	0.7848	0.8130	0.5670	0.8739	0.8571	0.8789	0.8235	0.6780	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	758.25	2	chr5	137621777	.	TAC	T	758.25	.	AC=17;AF=0.654;AN=26;BaseQRankSum=0.967;DP=36;ExcessHet=0;FS=0;InbreedingCoeff=0.6103;MLEAC=20;MLEAF=0.769;MQ=60;MQRankSum=0;QD=34.47;ReadPosRankSum=0.967;SOR=1.893	GT:AD:DP:GQ:PL	1/1:0,2:2:6:69,6,0	4	8	1	6
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	0/1:53,52:105:99:1294,0,1230	4	5	10	0
chr5	156326904	156326904	C	G	upstream	SGCD	dist=260	.	.	Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, type 2F, Autosomal recessive	1256	247	4	15	0	34	0.0643939	.	.	.	57276	not_specified|Qualitative_or_quantitative_defects_of_delta-sarcoglycan|not_provided	MedGen:CN169374|MONDO:MONDO:0016144,MedGen:C5680806,Orphanet:207070|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0595897	1551	26028	rs7717393	0.1000	0.0042	0.1111	0.0962	0.2500	0.0469	0.0333	0.0451	0.0308	0.2500	.	0	.	0	.	0.1034	0	.	0.0759	0.0759	0.0745	0.0773	0.1877	0.0747	0.0742	0.1775	0.1735	0.0782	0.0647	0.0816	0.0836	0.0472	0.0449	0.0884	0.0717	0.0827	0.1877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	40.44	.	chr5	156326904	.	C	G	40.44	.	AC=2;AF=0.125;AN=16;DP=15;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.188;MQ=60;QD=20.22;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	7	1	0	11
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	0/1:59,55:114:99:.:.:1469,0,1415:.	5	2	12	0
chr5	177385797	177385797	G	A	exonic	SLC34A1	.	nonsynonymous SNV	SLC34A1:NM_001167579:exon2:c.G56A:p.R19H,SLC34A1:NM_003052:exon2:c.G56A:p.R19H	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	1465469	Inborn_genetic_diseases|Hypercalcemia,_infantile,_2|not_provided|Hypophosphatemic_nephrolithiasis/osteoporosis_1	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014851,MedGen:C4310473,OMIM:616963,Orphanet:300547|MedGen:C3661900|MONDO:MONDO:0012850,MedGen:C2676786,OMIM:612286,Orphanet:244305	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.0169397634952	.	.	0.0001	0	9.386e-05	0	0	0.0001	0	0.0003	7.76e-05	12	154602	rs765766600	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	0	4.476e-05	0	0.0001	1.879e-05	0.0024	0.0001	0.0002	0.0003	5.916e-05	5.911e-05	3.856e-05	8.073e-05	0.0002	3.078e-05	2.211e-05	3.763e-05	2.576e-05	2.413e-05	0	6.539e-05	0	0.0002	0	0	8.823e-05	0	0	0.102	0.32141	T	0.035	0.52389	D	0.016	0.17332	B	0.003	0.08700	B	0.200248	0.16619	N	0.536654	1	0.08975	N	0.145	0.08828	N	0.77	0.49642	T	-3.98	0.73788	D	0.296	0.33469	-1.0502	0.14341	T	0.069	0.28346	T	10	0.051735073	0.05099	T	0.01694	0.38428	T	0.035	0.08770	0.308	0.27967	0.194818534648	0.19098	0.32771104227368814	0.32684	0.0823347196902	0.09283	0.371807813644	0.21091	T	0.165018	0.51069	T	-0.409991	0.01988	T	-0.562272	0.16163	T	0.0190214070930789	0.00611	T	0.661134	0.27033	T	0.024909608	0.01372	0.024727646	0.00497	0.024909608	0.01371	0.024727646	0.00497	-4.062	0.25379	T	.	.	0.095	0.16275	B	.;.;.	.;.;.	0.734297	0.11034	7.691	0.93194508062137282	0.22860	0.46943	0.27872	N	AEFBI	0.082606	0.16729	N	-1.20933332053521	0.04863	0.2203995	-1.20209427420504	0.05877	0.2812535	0.79494834230558	0.24082	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.93	-1.16	0.09181	1.048000	0.29989	0.439000	0.18405	-1.887000	0.00537	0.282000	0.25160	0.005000	0.19230	0.000000	0.00833	0.2136:0.1241:0.5496:0.1127	3.633	0.07680	934	0.15400	.;.;.	.	.	.	.	.	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	0.001512	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1920.33	36	chr5	177385797	.	G	A	1920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=784;ExcessHet=0;FS=1.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.014;SOR=0.546	GT:AD:DP:GQ:PL	0/1:61,71:132:99:1934,0,1333	18	0	1	0
chr6	6174633	6174633	G	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon12:c.C1694T:p.P565L	Factor XIIIA deficiency, Autosomal recessive	4	868	532	118	0	768	0.306709	.	.	.	252448	not_provided|Factor_XIII,_A_subunit,_deficiency_of|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	.	0.1925	0.240415	0.2160	0.1520	0.0939	0.3199	0.2052	0.2048	0.2313	0.3360	0.209965	32461	154602	rs5982	0.2156	0.2156	0.2117	0.2195	0.3279	0.2149	0.2147	0.3247	0.3234	0.1539	0.1013	0.2210	0.3015	0.2031	0.2525	0.2100	0.2248	0.3279	0.1958	0.1960	0.1933	0.1985	0.3479	0.1940	0.1932	0.3340	0.3284	0.1586	0.2029	0.1354	0.2190	0.3065	0.2133	0.2687	0.2087	0.1957	0.3479	0.729	0.03823	T	0.665	0.06406	T	.	.	.	.	.	.	0.138901	0.18362	N	0.568490	1	0.08975	P	.	.	.	-0.06	0.63568	T	0.31	0.04022	N	0.036	0.01068	-1.0809	0.07175	T	0.040	0.17149	T	9	0.0069898665	0.00159	T	.	.	.	0.077	0.22490	.	.	.	.	0.5783212436962746	0.57761	0.227437257193	0.25295	0.354513347149	0.18584	T	.	.	.	-0.666851	0.00057	T	-0.586841	0.13941	T	0.0120128747694183	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	2.677165	0.34918	19.76	0.3814487705666012	0.02555	0.45118	0.27468	N	AEFDGBI	0.423562	0.48910	N	-0.656020314291582	0.17286	0.8881491	-0.481416803574241	0.22666	1.232241	0.982481270091029	0.30405	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	2.576000	0.45698	8.492000	0.77332	0.665000	0.62972	0.643000	0.28111	1.000000	0.68203	0.253000	0.23340	0.0763:0.0:0.9237:0.0	12.334	0.54383	946	0.12043	.	.	.	.	.	.	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	0.245217	0.247475	0.213315	0.292398	0.200000	0.250000	0.216463	0.261364	0.2632	22641.2	45	chr6	6174633	.	G	A	22641.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=3.31;DP=2185;ExcessHet=6.9875;FS=0.533;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.563;SOR=0.738	GT:AD:DP:GQ:PL	0/1:63,93:156:99:2447,0,1300	9	0	10	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	0/1:202,247:449:99:6757,0,5473	1	11	7	0
chr6	16327702	16327702	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G609T:p.Q203H,ATXN1:NM_000332:exon8:c.G609T:p.Q203H	Spinocerebellar ataxia 1, Autosomal dominant	0	1520	1	0	1	2	0.000328839	.	.	.	919020	Inborn_genetic_diseases|ATXN1-related_disorder|Spinocerebellar_ataxia_type_1	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0008119,MedGen:C0752120,OMIM:164400,Orphanet:98755	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0126167537461	0.0006	0.000798722	0.0002	0.0001	0	0.0001	0	0.0004	0	6.242e-05	4.53e-05	7	154602	rs199744696	0.0006	0.0006	0.0006	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0003	0.0003	0	0.0006	0.0003	0	0.0006	0.0005	0.0002	0.0006	0.0006	0.0007	0.0005	0.0011	0.0005	0.0005	0.0008	0.0007	0.0011	0	0.0005	0	0.0008	0	0	0.0005	0.0005	0.0002	0.082	0.33254	T	0.036	0.52060	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.14	0.60854	T	0.09	0.05917	N	0.233	0.26233	-1.0148	0.25400	T	0.034	0.14726	T	9	0.020778894	0.00485	T	0.012617	0.31353	T	0.075	0.21907	0.258	0.20002	0.678472413359	0.67573	0.4276358579339323	0.42680	0.386732587604	0.39963	0.364669501781	0.20064	T	0.327071	0.69762	T	-0.123965	0.32478	T	-0.415844	0.31551	T	0.00890124525604402	0.00111	T	0.378962	0.09121	T	0.049666084	0.08852	0.08174316	0.18601	0.049666084	0.08852	0.08174316	0.18600	-6.715	0.51923	T	.	.	0.152	0.33755	B	.;.	.;.	0.591786	0.09604	6.376	0.84571437700183638	0.15370	0.01842	0.05707	N	AEFBI	0.043832	0.06979	N	-1.17715047882049	0.05346	0.243515	-1.23148842725495	0.05411	0.2577546	0.0981892677065721	0.16299	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	1.44	0.467	0.15933	-0.574000	0.05960	0.248000	0.16392	-0.808000	0.03092	0.254000	0.24889	0.262000	0.23990	0.007000	0.07825	0.0:0.48:0.52:0.0	5.647	0.16875	709	0.56835	.;.	.	.	.	.	.	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	0.001017	0.005263	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	1500.33	41	chr6	16327702	.	C	A	1500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.027;DP=1074;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.74;ReadPosRankSum=0.255;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,39:76:99:1|0:16327666_C_A:1514,0,1436:16327666	18	0	1	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	1/1:0,88:88:99:2895,264,0	1	9	9	0
chr6	42697810	42697810	-	AA	UTR3	PRPH2	NM_000322:c.*484_*485insTT	.	.	Choriodal dystrophy, central areolar 2, Autosomal dominant;Leber congenital amaurosis 18, Autosomal recessive, Autosomal dominant;Macular dystrophy, patterned, 1, Autosomal dominant;Macular dystrophy, vitelliform, 3, Autosomal dominant;Retinitis pigmentosa 7 and digenic, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	307361	not_provided|Retinitis_Pigmentosa,_Dominant|Patterned_macular_dystrophy_1|Vitelliform_macular_dystrophy|Choroidal_Dystrophy|Cone-Rod_Dystrophy,_Dominant|Pigmentary_retinal_dystrophy	MedGen:C3661900|MedGen:CN239354|MONDO:MONDO:0008210,MedGen:C4551999,OMIM:169150,Orphanet:99001|MONDO:MONDO:0000390,MedGen:C0339510,OMIM:PS153840|MedGen:C0730291|MedGen:CN239348|Human_Phenotype_Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880,Orphanet:227796,Orphanet:52427	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142539	371	26028	rs371825555	0.1127	0.0157	0.1030	0.1224	0.1294	0.0971	0.0912	0.1091	0.1015	0	0.0739	.	0.0714	0.1667	.	0.1294	0.0476	0.1020	0.4868	0.4883	0.4917	0.4814	0.5184	0.4837	0.4825	0.5138	0.5119	0.4669	0.3622	0.4133	0.4959	0.3929	0.5022	0.5188	0.5184	0.4889	0.5123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	95.85	.	chr6	42697810	.	T	TAA	95.85	.	AC=2;AF=0.333;AN=6;DP=6;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.667;MQ=60;QD=31.95;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:96,9,0	2	1	0	16
chr6	123548625	123548627	AAA	-	intronic	TRDN	.	.	.	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	402	432	251	308	129	996	0.500867	.	.	.	298899	Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia|not_provided	MedGen:CN230736|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0759	0.1271	0.0471	0.0123	0.0159	0.0826	0.0694	0.0650	0.0027278	71	26028	rs762964151	0.0523	0.0759	0.0521	0.0526	0.1248	0.0519	0.0518	0.1208	0.1191	0.1248	0.0530	0.0891	0.0041	0.0612	0.0599	0.0514	0.0575	0.0356	0.0352	0.0357	0.0355	0.0349	0.0711	0.0344	0.0340	0.0690	0.0681	0.0711	0.0279	0.0338	0.0349	0	0.0165	0.0331	0.0209	0.0335	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5938.9	18	chr6	123548624	.	TAAA	T	5938.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.762;DP=547;ExcessHet=1.0106;FS=2.495;InbreedingCoeff=0.0527;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.67;ReadPosRankSum=0.293;SOR=0.905	GT:AD:DP:GQ:PL	0/1:0,8:19:99:701,286,234	18	0	1	0
chr6	131847856	131847856	-	GT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	306046	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive|not_specified	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099124	258	26028	rs879243445	0.1164	0.1420	0.1109	0.1218	0.2260	0.1159	0.1156	0.2219	0.2202	0.0541	0.1701	0.1677	0.2260	0.1618	0.1174	0.1025	0.1337	0.1540	0.2005	0.2032	0.1967	0.2045	0.3235	0.1985	0.1977	0.3101	0.3047	0.0963	0.1496	0.2623	0.2420	0.3235	0.2116	0.2176	0.2296	0.2147	0.2345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	3351.19	17	chr6	131847856	.	G	GGT	3351.19	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0;DP=625;ExcessHet=3.6106;FS=4.874;InbreedingCoeff=-0.1737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.168;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,6:12:99:.:.:130,0,135:.	11	0	8	0
chr6	158993886	158993886	T	C	exonic	RSPH3	.	nonsynonymous SNV	RSPH3:NM_001346418:exon2:c.A583G:p.R195G,RSPH3:NM_031924:exon2:c.A157G:p.R53G	Ciliary dyskinesia, primary, 32, Autosomal recessive	433	1085	4	0	0	4	0.00183993	.	.	.	691966	Inborn_genetic_diseases|not_provided|Primary_ciliary_dyskinesia_32	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014657,MedGen:C4225311,OMIM:616481,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.529	0.0159822372932	0.0005	0.00159744	0.0006	0.0002	8.657e-05	0	0	0.0003	0.0033	0.0032	0.0005757	89	154602	rs200757145	0.0006	0.0006	0.0005	0.0006	0.0030	0.0005	0.0005	0.0027	0.0026	2.99e-05	2.238e-05	0	0	3.746e-05	0.0002	0.0005	0.0008	0.0030	0.0004	0.0004	0.0004	0.0004	0.0043	0.0003	0.0003	0.0029	0.0024	7.214e-05	0	0.0003	0	0	9.418e-05	0	0.0004	0	0.0043	0.002	0.72154	D	0.01	0.76473	D	0.998	0.73220	D	0.926	0.66095	D	0.000001	0.62929	D	0.055265	0.999679	0.48205	D	3.41	0.91792	M	1.9	0.27184	T	-6.17	0.90254	D	0.773	0.77039	-0.8820	0.49601	T	0.143	0.46459	T	10	0.021150231	0.00500	T	0.015982	0.37005	T	0.529	0.80128	.	.	0.429320821379	0.42548	0.2886417912392149	0.28777	1.10514115045	0.77871	0.573301136494	0.49144	T	0.35178	0.71930	T	-0.0972401	0.36881	T	0.0844942	0.75879	D	0.189516860040544	0.19816	T	0.918808	0.71304	D	0.7110074	0.78663	0.6691139	0.80590	0.67291856	0.76590	0.63319	0.78595	-11.605	0.82874	D	.	.	0.448	0.72226	A	.;.;.	.;.;.	3.615345	0.51130	23.1	0.99625694187632297	0.75716	0.78218	0.38558	D	AEFBI	0.349225	0.44309	N	0.509804793741145	0.67666	5.112404	0.415012883713652	0.62498	4.466329	0.673191096720774	0.22397	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.67	3.2	0.35826	0.952000	0.28747	0.032000	0.13746	0.665000	0.62972	1.000000	0.71638	0.935000	0.28640	0.995000	0.73285	0.0:0.0:0.2965:0.7035	11.078	0.47259	824	0.40336	.;.;.	.	.	.	.	.	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	554.33	41	chr6	158993886	.	T	C	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.628;DP=699;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=0.517;SOR=0.997	GT:AD:DP:GQ:PL	0/1:34,28:62:99:568,0,788	18	0	1	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q,TBP:NM_003194:exon3:c.G228A:p.Q76Q	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	136006	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.222904	0.295699	0.183924	0.233918	0.250000	0.155172	0.208861	0.189394	0.25	9626.11	127	chr6	170561964	.	G	A	9626.11	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=9;MLEAF=0.25;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,24:75:99:.:.:1888,0,1444:.	9	0	9	1
chr7	4792241	4792241	G	A	UTR3	AP5Z1	NM_001364858:c.*856G>A;NM_014855:c.*856G>A	.	.	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	888	614	13	7	0	27	0.0215139	.	.	.	898194	Hereditary_spastic_paraplegia_48|Hereditary_spastic_paraplegia	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0125799	.	.	.	.	.	.	.	.	0.0191717	499	26028	rs148032002	0.0213	0.0015	0	0.0286	0.0244	0.0038	0.0016	0.0043	0.0018	0	.	.	0	.	.	0.0244	0	.	0.0159	0.0160	0.0164	0.0154	0.0253	0.0154	0.0152	0.0225	0.0221	0.0042	0.0209	0.0177	0.0320	0.0002	0.0064	0.0548	0.0234	0.0228	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	81.47	.	chr7	4792241	.	G	A	81.47	.	AC=2;AF=0.071;AN=28;DP=31;ExcessHet=0;FS=0;InbreedingCoeff=0.2748;MLEAC=2;MLEAF=0.071;MQ=60;QD=20.37;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	13	1	0	5
chr7	4792979	4792979	C	A	UTR3	AP5Z1	NM_001364858:c.*1594C>A;NM_014855:c.*1594C>A	.	.	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	1108	400	9	5	0	19	0.023199	.	.	.	898212	Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_48	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0123802	.	.	.	.	.	.	.	.	0.0192485	501	26028	rs138654444	0.0373	0.0030	0.0341	0.0393	0.2500	0.0342	0.0330	0.0854	0.0515	0.0204	0.0179	0.0690	0	0.0259	0.2500	0.0423	0.0270	0.0689	0.0160	0.0160	0.0165	0.0154	0.0250	0.0155	0.0152	0.0226	0.0222	0.0043	0.0208	0.0179	0.0320	0.0002	0.0062	0.0544	0.0235	0.0232	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	98.72	7	chr7	4792979	.	C	A	98.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.842;DP=70;ExcessHet=0;FS=0;InbreedingCoeff=-0.0972;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-1.282;SOR=1.609	GT:AD:DP:GQ:PL	0/1:2,4:6:31:111,0,31	18	0	1	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	0/1:37,28:65:99:551,0,834	14	1	4	0
chr7	21765597	21765597	G	A	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	78	1405	37	2	0	41	0.0143809	0.0001	0.002	.	174205	Primary_ciliary_dyskinesia_7|Primary_ciliary_dyskinesia|not_provided|not_specified	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0155	0.0081869	0.0138	0.0138	0.0136	0.0002	0.0081	0.0177	0.0087	0.0068	0.0117139	1811	154602	rs72657374	0.0164	0.0160	0.0168	0.0160	0.0252	0.0162	0.0162	0.0217	0.0203	0.0100	0.0119	0.0105	7.992e-05	0.0084	0.0252	0.0185	0.0177	0.0059	0.0146	0.0144	0.0157	0.0135	0.0186	0.0141	0.0139	0.0178	0.0174	0.0125	0.0113	0.0162	0.0079	0	0.0080	0.0211	0.0186	0.0172	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	876.33	81	chr7	21765597	.	G	A	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=985;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=1.2;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,25:59:99:1|0:21765585_T_C:890,0,1301:21765585	18	0	1	0
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	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	0/1:13,9:27:99:151,0,298	4	2	11	2
chr7	56019599	56019599	C	-	splicing	PSPH	NM_001370504:exon5:c.275+1G>-;NM_004577:exon5:c.275+1G>-;NM_001370519:exon6:c.275+1G>-;NM_001370508:exon7:c.275+1G>-;NM_001370507:exon6:c.275+1G>-;NM_001370503:exon5:c.275+1G>-;NM_001370506:exon6:c.275+1G>-;NM_001370505:exon6:c.275+1G>-;NM_001370521:exon7:c.275+1G>-;NM_001370520:exon7:c.275+1G>-;NM_001370522:exon6:c.275+1G>-;NM_001370511:exon6:c.275+1G>-;NM_001370510:exon4:c.275+1G>-;NM_001370509:exon4:c.275+1G>-;NM_001370518:exon8:c.275+1G>-;NM_001370517:exon7:c.275+1G>-;NM_001370516:exon6:c.275+1G>-;NM_001370515:exon6:c.275+1G>-;NM_001370514:exon5:c.275+1G>-;NM_001370513:exon6:c.275+1G>-;NM_001370512:exon5:c.275+1G>-	.	.	Phosphoserine phosphatase deficiency, Autosomal recessive	0	1113	409	0	0	409	0.155218	.	.	.	389820	not_provided|Neurometabolic_disorder_due_to_serine_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.0173	0.0010	0.0043	0.0025	0.0014	0.0045	0.0154	0.0112571	293	26028	rs139106189	0.0280	0.1150	0.0264	0.0296	0.2882	0.0277	0.0276	0.2824	0.2801	0.2458	0.0506	0.0260	0.2882	0.0782	0.0707	0.0123	0.0428	0.0570	0.2421	0.2770	0.2385	0.2459	0.4694	0.2399	0.2390	0.4634	0.4610	0.4694	0.0600	0.2217	0.1153	0.4012	0.1785	0.1468	0.1173	0.2195	0.2924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2466.13	26	chr7	56019598	.	AC	A	2466.13	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.03;DP=613;ExcessHet=6.9875;FS=14.75;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=59.4;MQRankSum=-1.455;QD=7.03;ReadPosRankSum=-0.789;SOR=1.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,8:51:99:0|1:56019585_C_A:206,0,1781:56019585	9	0	10	0
chr7	74053320	74053320	-	TGTG	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	303340	Cutis_laxa,_autosomal_dominant|Supravalvar_aortic_stenosis	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0123	0.0051	0.0093	0.0036	0.0099	0.0184	0.0337	0.0074126	1146	154602	rs782441301	0.0209	0.0267	0.0203	0.0215	0.0378	0.0207	0.0206	0.0367	0.0363	0.0282	0.0139	0.0370	0.0218	0.0174	0.0226	0.0194	0.0209	0.0378	0.0298	0.0301	0.0291	0.0306	0.0498	0.0291	0.0288	0.0444	0.0423	0.0346	0.0158	0.0235	0.0543	0.0364	0.0226	0.0496	0.0267	0.0220	0.0498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	71919.5	110	chr7	74053320	.	C	CTGTG	71919.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.424;DP=4445;ExcessHet=4.0268;FS=0;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=-0.236;SOR=0.711	GT:AD:DP:GQ:PL	0/1:4,39:140:99:3260,1654,2555	18	0	1	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	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	1/1:2,52:54:99:.:.:1381,108,0:.	1	11	7	0
chr7	103483818	103483818	A	G	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon62:c.T10016C:p.M3339T,RELN:NM_173054:exon62:c.T10016C:p.M3339T	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	177244	Inborn_genetic_diseases|not_provided|not_specified|Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.00177242675502	0.0002	.	3.297e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs150638029	2.258e-05	2.257e-05	2.042e-05	2.475e-05	0.0002	1.61e-05	1.417e-05	9.752e-05	6.952e-05	0.0002	2.236e-05	0	0	0	0	1.979e-05	4.969e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.698e-05	0.0004	0.0003	0.0006	0	6.541e-05	0	0	0	0	0	0	0	0.336	0.12878	T	0.404	0.14818	T	0.0	0.02946	B	0.0	0.01387	B	0.321778	0.14259	N	0.695276	1	0.08975	N	0	0.06538	N	2.07	0.20387	T	1.04	0.01387	N	0.061	0.15609	-0.9618	0.38839	T	0.021	0.08824	T	10	0.03701806	0.02032	T	0.001772	0.03012	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.21052742979368264	0.20968	0.340885797724	0.36025	0.236097872257	0.02450	T	0.036024	0.23947	T	-0.552357	0.00282	T	-0.677166	0.07157	T	0.0123297693615755	0.00200	T	0.509649	0.16214	T	0.032797642	0.03374	0.07573636	0.16704	0.032797642	0.03374	0.07573636	0.16703	-1.889	0.03070	T	0.0333539999583252	0.00142	0.046	0.00056	B	.;.;.	.;.;.	-0.479913	0.01932	0.164	0.58631687110829256	0.06037	0.01621	0.05236	N	AEFBI	0.149561	0.27367	N	-1.25798363121782	0.04196	0.1888923	-1.14306623530403	0.06893	0.3333748	0.0257212097713017	0.13667	0.623552	0.39893	0	0.563428	0.19063	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.64	2.87	0.32523	1.457000	0.34822	1.828000	0.29093	-1.540000	0.00981	0.019000	0.19563	0.008000	0.19753	0.046000	0.14843	0.4314:0.0:0.5686:0.0	8.005	0.29482	846	0.36215	.;.;.	.	.	.	.	.	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	779.33	33	chr7	103483818	.	A	G	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.25;DP=682;ExcessHet=0;FS=10.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.912;SOR=0.136	GT:AD:DP:GQ:PL	0/1:27,31:58:99:793,0,756	18	0	1	0
chr7	103561959	103561959	-	A	intronic	RELN	.	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265689	not_provided|Lissencephaly,_Recessive|not_specified	MedGen:C3661900|MedGen:CN239458|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0429	0.0306	0.0469	0.1128	0.0129	0.0329	0.0254	0.0875	0.0001921	5	26028	rs34125550	0.1176	0.1293	0.1191	0.1160	0.1216	0.1171	0.1169	0.1196	0.1194	0.1132	0.1113	0.1139	0.1216	0.1000	0.0962	0.1202	0.1130	0.0928	0.1318	0.1352	0.1343	0.1290	0.1444	0.1300	0.1292	0.1417	0.1406	0.1191	0.3008	0.0987	0.1546	0.0973	0.1207	0.1350	0.1444	0.1342	0.1044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	25478.0	34	chr7	103561959	.	C	CA	25478.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.074;DP=2609;ExcessHet=5.3738;FS=4.294;InbreedingCoeff=-0.3103;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=14.42;ReadPosRankSum=0.028;SOR=0.43	GT:AD:DP:GQ:PL	0/1:21,18:97:99:605,353,964	18	0	1	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	0/1:32,44:76:99:1709,0,1188	3	7	9	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|Childhood_apraxia_of_speech|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	8109.15	51	chr7	114663436	.	A	AT	8109.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.586;DP=1014;ExcessHet=2.8258;FS=1.106;InbreedingCoeff=-0.1515;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.101;SOR=0.592	GT:AD:DP:GQ:PL	0/1:31,31:62:99:684,0,688	9	1	9	0
chr7	117610521	117610521	G	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon19:c.G2991C:p.L997F	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	11	1491	20	0	0	20	0.00666223	.	.	YES	22268	Pancreatitis|Infertility_disorder|Obstructive_azoospermia|not_specified|.|.|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|not_provided|CFTR-related_disorder	Human_Phenotype_Ontology:HP:0001733,MONDO:MONDO:0004982,MedGen:C0030305|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106|MedGen:CN169374|.|.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033|MedGen:C3661900|MedGen:C5924204	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.625	0.122468007951	0.0015	0.00179712	0.0021	0.0003	0.0033	0	0	0.0028	0.0056	0.0012	0.0020375	315	154602	rs1800111	0.0018	0.0018	0.0017	0.0019	0.0082	0.0017	0.0017	0.0063	0.0056	0.0004	0.0045	0.0057	2.523e-05	5.623e-05	0.0082	0.0017	0.0034	0.0014	0.0021	0.0021	0.0021	0.0021	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0058	0	0	0.0035	0.0024	0.0048	0.0013	0.053	0.45039	T	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999833	0.49637	D	1.825	0.47900	L	-2.52	0.89363	D	-1.01	0.26639	N	0.947	0.95491	0.205	0.85998	D	0.635	0.87219	D	10	0.02057156	0.00476	T	0.122468	0.80344	D	0.625	0.85511	0.73	0.86373	0.999745636659	0.99974	0.9270361156120207	0.92681	0.00453241386877	0.00400	0.589679062366	0.51448	T	0.585465	0.86490	D	-0.0673161	0.41755	T	0.138205	0.79429	D	0.0292856887522522	0.01880	T	0.964804	0.86967	D	0.6127058	0.73373	0.3455561	0.60236	0.64504117	0.75101	0.38016403	0.63054	-7.931	0.60599	D	0.6509694308403594	0.72309	0.741	0.74667	P	.;.;.;.;.	.;.;.;.;.	3.349901	0.46200	22.3	0.99856159323614746	0.93458	0.81794	0.41128	D	AEFDI	0.677697	0.64231	D	0.402658447996314	0.61569	4.35973	0.334515465865812	0.57580	3.924215	0.0440736209205392	0.14597	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.02	2.87	0.32523	1.651000	0.36918	3.812000	0.39914	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.957000	0.51019	0.3918:0.0:0.4021:0.2061	2.683	0.04782	853	0.34956	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	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	0.010070	0.035354	0.008152	0.000000	0.000000	0.008621	0.015244	0.000000	0.02632	1351.33	33	chr7	117610521	.	G	C	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.508;DP=804;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.68;SOR=0.59	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1365,0,1194	18	0	1	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	1/1:0,122:122:99:3882,366,0	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	0/1:60,41:101:99:351,0,1057	3	0	14	2
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	0/1:95,26:121:99:.:.:777,0,2732:.	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|1:135,23:158:99:0|1:142750672_T_A:532,0,5552:142750672	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|1:128,21:149:99:0|1:142750672_T_A:496,0,5309:142750672	5	0	14	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	0/1:192,42:234:99:1188,0,5297	4	0	15	0
chr8	10611249	10611249	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G2849A:p.R950H	Occult macular dystrophy, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	413767	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.387	0.715972163147	0.0002	.	0.0003	0.0001	0	0.0005	0	0.0002	0	0.0012	0.0002264	35	154602	rs201968725	0.0002	0.0002	0.0001	0.0002	0.0015	0.0002	0.0001	0.0013	0.0012	5.974e-05	2.236e-05	0	0.0001	0	0.0005	9.263e-05	0.0002	0.0015	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	0.0001	0	0	0	0.0004	0	0	0.0001	0.0005	0.0017	0.441	0.09236	T	0.167	0.30729	T	.	.	.	.	.	.	0.947360	0.07633	N	1.039280	1	0.08975	N	-0.22	0.03977	N	-1.02	0.76300	T	1.42	0.00815	N	0.646	0.65758	-0.8512	0.51885	T	0.266	0.63749	T	10	0.23439452	0.40478	T	0.715972	0.97696	D	0.387	0.70358	.	.	0.15556083564	0.15200	0.2538678084800543	0.25300	.	.	0.245718508959	0.03330	T	0.079735	0.36199	T	-0.28525	0.10119	T	-0.212597	0.53447	T	0.0168827265305444	0.00440	T	0.464054	0.13535	T	0.02187258	0.00815	0.029692015	0.01336	0.02187258	0.00814	0.029692015	0.01336	-4.108	0.25408	T	0.0911984329143445	0.05761	0.081	0.08368	B	.	.	0.204964	0.05893	2.333	0.29934526604811967	0.01612	0.00599	0.02675	N	AEFDBI	0.025219	0.01691	N	-1.05860557936357	0.07419	0.3446135	-1.0732974274852	0.08228	0.4036583	1.02379788800706E-4	0.05123	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.73	1.24	0.20416	0.025000	0.13469	-2.388000	0.03816	-0.195000	0.09104	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.4919:0.0:0.5081	6.973	0.23842	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1330.33	55	chr8	10611249	.	C	T	1330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.802;DP=933;ExcessHet=0;FS=2.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.69;SOR=0.62	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1344,0,1122	18	0	1	0
chr8	22165143	22165146	GGAG	-	upstream;downstream	BMP1;SFTPC	dist=226;dist=665	.	.	.	961	445	48	68	0	184	0.171322	.	.	.	313871	not_provided|Osteogenesis_Imperfecta,_Recessive	MedGen:C3661900|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs750344454	0.1919	0.1472	0.1910	0.1927	0.2256	0.1903	0.1897	0.2144	0.2099	0.0570	0.2256	0.1847	0.0097	0.2767	0.1734	0.2043	0.1859	0.2043	0.1727	0.1650	0.1665	0.1792	0.2364	0.1707	0.1699	0.2293	0.2265	0.0456	0.3420	0.2364	0.1850	0.0059	0.3297	0.1800	0.2174	0.1714	0.2260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	366.49	.	chr8	22165142	.	CGGAG	C	366.49	.	AC=4;AF=0.182;AN=22;BaseQRankSum=0.842;DP=43;ExcessHet=0.0328;FS=0;InbreedingCoeff=0.0959;MLEAC=7;MLEAF=0.318;MQ=60;MQRankSum=0;QD=26.18;ReadPosRankSum=0;SOR=0.593	GT:AD:DP:GQ:PL	1/1:0,5:5:15:225,15,0	8	1	2	8
chr8	27803549	27803549	-	AC	UTR3	ESCO2	NM_001017420:c.*111_*112insAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	313989	not_provided|Roberts-SC_phocomelia_syndrome	MedGen:C3661900|MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs144484866	0.4041	0.4118	0.4055	0.4027	0.4982	0.4031	0.4027	0.4913	0.4885	0.3718	0.4614	0.3295	0.4982	0.3682	0.3292	0.4060	0.3981	0.3697	0.4399	0.4405	0.4415	0.4382	0.6505	0.4370	0.4359	0.6320	0.6245	0.4337	0.5066	0.5022	0.2907	0.6505	0.3778	0.3655	0.4312	0.4163	0.4347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	858.52	3	chr8	27803549	.	T	TAC	858.52	.	AC=6;AF=0.176;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	0/1:1,3:4:24:.:.:95,0,24:.	13	2	2	2
chr8	38428395	38428395	-	TCA	exonic	FGFR1	.	nonframeshift insertion	FGFR1:NM_001174066:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354368:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354370:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023105:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023106:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001174063:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174065:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354367:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354369:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_015850:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_023110:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174064:exon5:c.374_375insTGA:p.D125_S126insD,FGFR1:NM_001174067:exon5:c.497_498insTGA:p.D166_S167insD	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	0	224	1	1	0	3	0.00665188	.	.	.	438386	Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|Mendelian_syndromes_with_cleft_lip/palate|not_provided	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C5680616,Orphanet:139039|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0003	0	0.0005	0.0001153	3	26028	rs776622310	0.0001	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0003	0.0002	8.964e-05	0.0002	0	2.52e-05	7.489e-05	0.0002	0.0001	0.0001	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	9.623e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	960.29	38	chr8	38428395	.	G	GTCA	960.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.484;DP=714;ExcessHet=0;FS=4.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=-0.631;SOR=0.409	GT:AD:DP:GQ:PL	0/1:25,25:50:99:974,0,930	18	0	1	0
chr8	76854030	76854030	C	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.C7109T:p.T2370M	.	0	1516	4	2	0	8	0.00263158	.	.	.	3185176	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.00975772827316	0.0003	0.000399361	0.0006	0	0.0004	0.0001	0.0002	0.0006	0	0.0015	0.0005627	87	154602	rs200621033	0.0006	0.0006	0.0006	0.0007	0.0020	0.0006	0.0006	0.0018	0.0017	5.974e-05	0.0002	0.0002	0	0.0002	0.0003	0.0006	0.0006	0.0020	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0005	0.0004	2.407e-05	0	0.0003	0.0003	0.0002	9.413e-05	0	0.0006	0	0.0012	0.16	0.23721	T	0.147	0.32783	T	.	.	.	.	.	.	0.070363	0.21544	U	0.325051	1	0.08975	N	.	.	.	0.72	0.50976	T	-0.69	0.19720	N	0.057	0.02861	-1.0655	0.10432	T	0.062	0.25887	T	10	0.0069944263	0.00159	T	0.009758	0.25472	T	0.044	0.11924	.	.	0.0675242888579	0.06100	0.12351123756348206	0.12277	0.196977455865	0.22071	0.294634819031	0.09603	T	.	.	.	-0.546226	0.00307	T	-0.570623	0.15393	T	0.0128762952533175	0.00220	T	0.583442	0.21827	T	.	.	.	.	.	.	.	.	-5.372	0.40650	T	.	.	.	.	.	.;.	.;.	1.737773	0.22111	15.49	0.99012245302007285	0.50399	0.17929	0.20047	N	AEFBCI	0.115291	0.22675	N	-0.450638408617447	0.23718	1.275654	-0.42095670173751	0.24383	1.334898	0.999147018911726	0.38563	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.02	4.13	0.47661	0.879000	0.27783	1.469000	0.26739	-0.190000	0.09434	0.000000	0.06391	0.001000	0.17328	0.831000	0.39176	0.1463:0.7767:0.0:0.077	9.863	0.40291	797	0.45241	.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3376.33	43	chr8	76854030	.	C	T	3376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=1189;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.128;SOR=0.669	GT:AD:DP:GQ:PL	0/1:141,129:270:99:3390,0,3573	18	0	1	0
chr8	132480670	132480670	-	CC	UTR5	KCNQ3	NM_004519:c.-139_-138insGG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	75	142	3	2	4	11	0.024055	.	.	.	307908	Benign_Neonatal_Epilepsy|Benign_neonatal_seizures|not_provided	MedGen:C0270851|MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs879019805	0.1321	0.1013	0.1313	0.1330	0.1680	0.1314	0.1311	0.1626	0.1604	0.1407	0.1001	0.1405	0.0618	0.1292	0.1494	0.1314	0.1335	0.1680	0.1700	0.1748	0.1676	0.1725	0.2214	0.1680	0.1672	0.2089	0.2038	0.1562	0.0893	0.1840	0.2043	0.0990	0.1830	0.2250	0.1740	0.1618	0.2214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1397.93	22	chr8	132480670	.	A	ACC	1397.93	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-0.079;DP=329;ExcessHet=1.8686;FS=11.611;InbreedingCoeff=-0.1149;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.709;SOR=1.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,7:14:99:.:.:225,0,228:.	12	0	6	1
chr8	132893891	132893891	G	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon11:c.G2963A:p.R988H	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1420	80	3	19	105	0.0293917	.	.	.	700402	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	.	0.0113818	0.0062	0.0136	0.0065	0	0.0002	0.0047	0.0198	0.0125	0.0060931	942	154602	rs16893332	0.0039	0.0039	0.0036	0.0043	0.0326	0.0039	0.0038	0.0288	0.0273	0.0148	0.0069	0.0242	5.038e-05	3.744e-05	0.0326	0.0023	0.0071	0.0129	0.0076	0.0076	0.0075	0.0078	0.0141	0.0072	0.0071	0.0120	0.0116	0.0129	0.0694	0.0091	0.0271	0.0002	0	0.0272	0.0034	0.0095	0.0141	0.145	0.25154	T	0.23	0.25135	T	0.014	0.16867	B	0.002	0.06944	B	0.225609	0.03484	N	1.557920	1	0.08975	P	1.995	0.54099	M	-0.05	0.63403	T	-0.61	0.18042	N	0.072	0.04547	-1.0384	0.17802	T	0.130	0.43907	T	9	0.0039331317	0.00075	T	.	.	.	0.031	0.07369	.	.	0.489036454283	0.48535	0.4654018044957635	0.46459	0.0845940308932	0.09560	0.33510312438	0.15703	T	0.031147	0.21906	T	-0.600481	0.00145	T	-0.62365	0.10901	T	0.00297776578759739	0.00031	T	0.612539	0.23323	T	0.057231065	0.11362	0.022166258	0.00247	0.057231065	0.11362	0.022166258	0.00247	-4.793	0.34510	T	0.2324255815871423	0.31459	0.086	0.10449	B	.	.	1.354724	0.17631	13.28	0.93809713431198005	0.23783	0.05774	0.11706	N	ALL	0.057441	0.10699	N	-1.0196633219255	0.08196	0.383451	-1.04276711803798	0.08857	0.4376336	0.999999974337892	0.74766	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.14	-0.246	0.12380	-0.135000	0.10399	0.321000	0.17185	0.661000	0.55757	0.000000	0.06391	0.004000	0.18990	0.070000	0.16646	0.3158:0.2552:0.2984:0.1306	1.132	0.01640	808	0.43318	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1022.33	34	chr8	132893891	.	G	A	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=733;ExcessHet=0;FS=2.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-2.069;SOR=1.038	GT:AD:DP:GQ:PL	0/1:61,41:102:99:1036,0,1492	18	0	1	0
chr8	143923680	143923680	C	T	exonic	PLEC	.	synonymous SNV	PLEC:NM_201378:exon31:c.G6207A:p.A2069A,PLEC:NM_201379:exon31:c.G6183A:p.A2061A,PLEC:NM_201380:exon31:c.G6660A:p.A2220A,PLEC:NM_201381:exon31:c.G6153A:p.A2051A,PLEC:NM_201382:exon31:c.G6249A:p.A2083A,PLEC:NM_201383:exon31:c.G6261A:p.A2087A,PLEC:NM_201384:exon31:c.G6249A:p.A2083A,PLEC:NM_000445:exon32:c.G6330A:p.A2110A	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	.	272140	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0001	.	8.093e-05	0	0	0.0008	0	0	0	0.0001	5.17e-05	8	154602	rs377026986	7.738e-05	8.14e-05	8.222e-05	7.243e-05	0.0029	6.544e-05	6.082e-05	0.0018	0.0015	0.0003	5.251e-05	0	0.0003	5.75e-05	0.0029	3.134e-05	0.0002	0.0003	7.882e-05	7.875e-05	8.997e-05	6.716e-05	0.0002	4.495e-05	3.511e-05	9.543e-05	6.947e-05	0.0002	0	0	0	0	0.0002	0	1.471e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.003619	0.005618	0.000000	0.020833	0.000000	0.000000	0.000000	0.000000	0.02632	551.33	54	chr8	143923680	.	C	T	551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=787;ExcessHet=0;FS=2.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=1.76;SOR=0.595	GT:AD:DP:GQ:PL	0/1:32,21:53:99:565,0,790	18	0	1	0
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	0/1:18,38:56:99:1540,0,640	9	2	8	0
chr9	33166713	33166713	-	G	intronic	B4GALT1	.	.	.	Congenital disorder of glycosylation, type IId, Autosomal recessive	1	1432	80	9	0	98	0.0330858	.	.	.	488301	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0177	0.0299521	0.0256	0.0170	0.0585	0.0626	0.0213	0.0170	0.0198	0.0287	0.000925	143	154602	rs111399879	0.0206	0.0204	0.0203	0.0209	0.0622	0.0204	0.0203	0.0601	0.0592	0.0172	0.0487	0.0535	0.0622	0.0160	0.0500	0.0175	0.0244	0.0249	0.0233	0.0233	0.0230	0.0236	0.0596	0.0227	0.0224	0.0542	0.0520	0.0169	0.0308	0.0458	0.0496	0.0596	0.0169	0.0612	0.0186	0.0241	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	836.79	31	chr9	33166713	.	C	CG	836.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.724;DP=670;ExcessHet=0.119;FS=1.904;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=2.12;SOR=0.481	GT:AD:DP:GQ:PL	0/1:18,24:42:99:604,0,424	17	0	2	0
chr9	98826819	98826819	C	A	exonic	GALNT12	.	nonsynonymous SNV	GALNT12:NM_024642:exon3:c.C609A:p.N203K	.	415	1102	5	0	0	5	0.00226347	.	.	.	475220	Colorectal_cancer,_susceptibility_to,_1|not_specified|not_provided	MONDO:MONDO:0012132,MedGen:C1837315,OMIM:608812|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.00768321348977	7.7e-05	.	9.214e-05	0	0.0002	0	0	5.476e-05	0.0015	0.0002	6.47e-05	10	154602	rs370024536	3.288e-05	3.489e-05	2.044e-05	4.545e-05	0.0003	2.547e-05	2.252e-05	0.0002	0.0002	0	2.24e-05	0	0	0	0.0002	1.349e-05	3.319e-05	0.0003	2.628e-05	2.627e-05	1.285e-05	4.034e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.75	0.03587	T	1.0	0.01155	T	0.454	0.36182	P	0.138	0.33406	B	0.026203	0.25958	N	0.500926	0.808225	0.29033	N	-0.475	0.02701	N	0.39	0.57419	T	-0.59	0.17624	N	0.323	0.36359	-1.0033	0.28963	T	0.047	0.19998	T	10	0.05025664	0.04731	T	0.007683	0.20378	T	0.096	0.27654	0.535	0.64439	0.489449420884	0.48578	0.27330403995605057	0.27243	0.249740175595	0.27555	0.318578243256	0.13206	T	0.010258	0.09278	T	-0.415403	0.01831	T	-0.570045	0.15446	T	0.0523881878896073	0.05915	T	0.847115	0.52772	T	0.14200556	0.32698	0.05513037	0.09611	0.14200556	0.32698	0.05513037	0.09610	-2.527	0.05969	T	0.10858259562300897	0.08969	0.083	0.09094	B	.	.	1.953689	0.24815	16.54	0.95868045775168487	0.28038	0.16886	0.19593	N	AEFDBI	0.100411	0.20191	N	-0.611876540908084	0.18587	0.9661562	-0.469027072553572	0.23011	1.252795	0.993747890654381	0.33337	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.96	3.91	0.44383	-0.142000	0.10293	1.772000	0.28642	0.599000	0.40250	0.009000	0.18154	0.881000	0.27706	0.328000	0.25156	0.0:0.664:0.0:0.336	5.186	0.14510	850	0.35610	Glycosyltransferase 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1155.33	35	chr9	98826819	.	C	A	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.158;DP=732;ExcessHet=0;FS=5.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.724;SOR=0.512	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1169,0,1036	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	1/0:18,15:79:13:381,118,627	4	0	15	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	1/1:0,124:124:99:3720,372,0	6	10	3	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	1/1:0,11:11:33:310,33,0	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	0/1:15,14:29:99:.:.:448,0,435:.	1	5	13	0
chr10	27044192	27044192	-	A	splicing	ANKRD26	NM_001256053:exon19:c.1983-2->T;NM_014915:exon19:c.1986-2->T	.	.	Thrombocytopenia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	315228	not_provided|not_specified|Thrombocytopenia_2|Thrombocytopenia	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0678	0.0848	0.2262	0.0234	0.0210	0.0526	0.0576	0.0382	0.0001921	5	26028	rs749880815	0.0439	0.0614	0.0450	0.0428	0.1713	0.0435	0.0434	0.1674	0.1658	0.0710	0.1713	0.0366	0.0230	0.0187	0.0455	0.0409	0.0451	0.0350	0.0470	0.0468	0.0487	0.0451	0.1283	0.0461	0.0457	0.1235	0.1215	0.0672	0	0.1283	0.0228	0.0123	0.0105	0.0524	0.0277	0.0538	0.0190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2927.88	40	chr10	27044192	.	T	TA	2927.88	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.965;DP=1005;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.287;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.718;SOR=0.711	GT:AD:DP:GQ:PL	0/1:2,27:67:99:1522,994,1241	18	0	1	0
chr10	27862453	27862453	A	C	exonic	ARMC4	.	nonsynonymous SNV	ARMC4:NM_001290021:exon11:c.T1355G:p.L452W,ARMC4:NM_001312689:exon13:c.T1856G:p.L619W,ARMC4:NM_001290020:exon18:c.T2780G:p.L927W,ARMC4:NM_018076:exon18:c.T2780G:p.L927W	Ciliary dyskinesia, primary, 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	76951	Primary_ciliary_dyskinesia_23|Kartagener_syndrome	MONDO:MONDO:0014193,MedGen:C3809548,OMIM:615451,Orphanet:244|MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244,Orphanet:98861	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.721	0.11981222982	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587777047	6.864e-07	6.84e-07	0	1.38e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000031	0.55875	D	0.081935	0.999995	0.58761	D	3.32	0.90714	M	0.73	0.50721	T	-5.53	0.86073	D	0.971	0.98167	0.443	0.89732	D	0.668	0.88504	D	10	0.8296648	0.82133	D	0.119812	0.80021	D	0.721	0.90146	0.544	0.65731	0.701847727984	0.69926	0.8649776511258799	0.86461	0.724374331737	0.62386	0.722423672676	0.70400	T	0.350579	0.71827	T	0.304935	0.83359	D	0.200241	0.83143	D	0.997721970081329	0.92263	D	0.934707	0.75503	D	0.79622835	0.83666	0.77356124	0.86636	0.79622835	0.83667	0.77356124	0.86637	-15.42	0.96759	D	.	.	0.983	0.91726	P	.	.	4.568674	0.72067	25.8	0.95915171398910948	0.28169	0.97927	0.78187	D	AEFI	0.909168	0.86545	D	0.705382199920102	0.79984	7.195057	0.617257272319801	0.76193	6.446054	0.126770319556987	0.17006	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.9	4.74	0.59717	6.174000	0.71864	7.921000	0.74526	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.9327:0.0:0.0673:0.0	12.125	0.53213	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1340.33	33	chr10	27862453	.	A	C	1340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.272;DP=718;ExcessHet=0;FS=1.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.04;SOR=0.491	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1354,0,1141	18	0	1	0
chr10	70600631	70600631	G	A	exonic	PRF1	.	nonsynonymous SNV	PRF1:NM_001083116:exon2:c.C272T:p.A91V,PRF1:NM_005041:exon2:c.C272T:p.A91V	Aplastic anemia;Hemophagocytic lymphohistiocytosis, familial, 2, Autosomal recessive;Lymphoma, non-Hodgkin	1	1453	66	2	0	70	0.0235215	.	.	.	28757	PRF1-related_disorder|Autoinflammatory_syndrome|not_specified|Familial_hemophagocytic_lymphohistiocytosis_2|Hemophagocytic_lymphohistiocytosis,_familial,_2,_susceptibility_to|not_provided	.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0011337,MedGen:C1863727,OMIM:603553,Orphanet:540|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.485	.	0.0338	0.0131789	0.0311	0.0059	0.0218	0.0001	0.0304	0.0475	0.0280	0.0038	0.0308405	4768	154602	rs35947132	0.0361	0.0361	0.0365	0.0357	0.0422	0.0358	0.0357	0.0418	0.0417	0.0053	0.0248	0.0261	0.0002	0.0305	0.0237	0.0422	0.0301	0.0038	0.0287	0.0287	0.0301	0.0272	0.0448	0.0279	0.0277	0.0434	0.0429	0.0072	0.1776	0.0276	0.0288	0.0002	0.0221	0.0306	0.0448	0.0350	0.0031	0.004	0.65419	D	0.007	0.69154	D	1.0	0.90584	D	0.937	0.67262	D	0.000186	0.48115	D	0.182932	0.999004	0.45857	D	3.1	0.87590	M	-3.02	0.92258	D	-3.58	0.69118	D	0.227	0.28616	0.116	0.84469	D	0.528	0.82458	D	10	0.0071359873	0.00162	T	.	.	.	0.485	0.77399	.	.	.	.	0.7675412476221211	0.76703	0.429213647439	0.43218	0.444428026676	0.31182	T	0.776691	0.94068	D	-0.273097	0.11414	T	-0.121804	0.61654	T	0.0190385066172218	0.00613	T	0.662834	0.27173	T	0.3169565	0.54381	0.27410573	0.53336	0.28359354	0.51391	0.27789047	0.53744	-5.801	0.44583	T	0.7735070147521246	0.85426	0.253	0.52582	B	.;.;.	.;.;.	4.137445	0.61958	24.4	0.99893776928203382	0.96742	0.98229	0.80739	D	AEFDBI	0.635808	0.61518	D	0.430311824172762	0.63097	4.536921	0.347167296914626	0.58337	4.003673	0.99999999640275	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.7	4.8	0.61157	6.742000	0.74644	8.571000	0.77606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.128000	0.19490	0.0809:0.0:0.9191:0.0	12.453	0.55024	489	0.76795	.;Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain	ADAMTS14|ADAMTS14|ADAMTS14	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	.	.	.	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	0.020202	0.025253	0.020380	0.002924	0.050000	0.017241	0.030488	0.030303	0.05263	3525.83	118	chr10	70600631	.	G	A	3525.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.576;DP=832;ExcessHet=0.119;FS=3.91;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.857;SOR=0.967	GT:AD:DP:GQ:PL	0/1:47,64:111:99:1779,0,1265	17	0	2	0
chr10	86668637	86668637	C	A	UTR5	LDB3	NM_001080116:c.-55C>A	.	.	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	1	1453	65	3	0	71	0.0238495	.	.	.	323578	not_provided|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_4|Myofibrillar_Myopathy,_Dominant	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN239310|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|MedGen:CN239446	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.00359425	.	.	.	.	.	.	.	.	0.0008215	127	154602	rs34972863	0.0043	0.0041	0.0038	0.0047	0.0164	0.0042	0.0041	0.0136	0.0126	0.0007	0.0022	0.0305	2.589e-05	7.696e-05	0.0164	0.0034	0.0057	0.0117	0.0032	0.0032	0.0030	0.0033	0.0108	0.0029	0.0028	0.0084	0.0076	0.0005	0	0.0019	0.0346	0	0	0.0238	0.0036	0.0038	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2646.81	36	chr10	86668637	.	C	A	2646.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.92;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=29.09;ReadPosRankSum=0.152;SOR=0.409	GT:AD:DP:GQ:PL	1/1:1,90:91:99:2674,262,0	18	1	0	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|1:0,86:86:99:1|1:90918983_AATAAATAAATATATATAT_A:3776,260,0:90918983	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	1/1:0,39:39:99:1081,117,0	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	1/1:0,208:208:99:.:.:6324,624,0:.	2	13	4	0
chr11	6616509	6616509	T	-	intronic	TPP1	.	.	.	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321432	Neuronal_Ceroid-Lipofuscinosis,_Recessive|Neuronal_ceroid_lipofuscinosis_2|not_specified|not_provided	MedGen:CN239323|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1142	0.0799	0.0493	0.0916	0.0410	0.1069	0.1220	0.1456	0.0005379	14	26028	rs35039601	0.3989	0.3867	0.4023	0.3954	0.4118	0.3980	0.3976	0.4108	0.4104	0.3181	0.3268	0.3599	0.3573	0.3454	0.3614	0.4118	0.3926	0.3499	0.5430	0.5451	0.5416	0.5444	0.6143	0.5396	0.5382	0.5937	0.5854	0.4376	0.6847	0.5590	0.5754	0.5442	0.5465	0.5397	0.5915	0.5301	0.6143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	13563.8	26	chr11	6616508	.	AT	A	13563.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.292;DP=902;ExcessHet=0;FS=3.629;InbreedingCoeff=nan;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=23.71;ReadPosRankSum=0.273;SOR=0.425	GT:AD:DP:GQ:PL	0/1:0,5:20:8:406,226,180	11	0	8	0
chr11	17276578	17276578	C	G	upstream	NUCB2	dist=136	.	.	.	1177	165	27	153	0	333	0.502262	.	.	.	132617	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.665136	.	.	.	.	.	.	.	.	0.611226	15909	26028	rs214088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6236	0.6237	0.6233	0.6239	0.8166	0.6202	0.6189	0.7960	0.7876	0.6476	0.6747	0.6715	0.6983	0.8166	0.5278	0.6156	0.5913	0.6627	0.6438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7727	1258.83	1	chr11	17276578	.	C	G	1258.83	.	AC=17;AF=0.773;AN=22;BaseQRankSum=0.842;DP=44;ExcessHet=0;FS=0;InbreedingCoeff=0.3978;MLEAC=24;MLEAF=1;MQ=60;MQRankSum=0;QD=28.57;ReadPosRankSum=1.28;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,5:7:28:0|1:17276557_A_C:173,0,28:17276557	2	8	1	8
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	1/1:0,61:61:99:1999,183,0	4	9	6	0
chr11	17393023	17393023	C	T	exonic	ABCC8	.	nonsynonymous SNV	ABCC8:NM_000352:exon39:c.G4714A:p.V1572I,ABCC8:NM_001287174:exon39:c.G4717A:p.V1573I,ABCC8:NM_001351295:exon39:c.G4780A:p.V1594I,ABCC8:NM_001351296:exon39:c.G4714A:p.V1572I,ABCC8:NM_001351297:exon39:c.G4711A:p.V1571I	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	0	1264	229	29	0	287	0.101954	.	.	.	167553	not_specified|Transient_Neonatal_Diabetes,_Dominant|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hereditary_hyperinsulinism|Neonatal_hypoglycemia|Permanent_neonatal_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Hyperinsulinism,_Dominant/Recessive	MedGen:CN169374|MedGen:CN239283|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|.|Human_Phenotype_Ontology:HP:0001998,MedGen:C0158986|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN239464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.172	.	0.0554	0.0311502	0.0562	0.0284	0.0283	0.0005	0.0384	0.0709	0.0721	0.0693	0.0551287	8523	154602	rs8192690	0.0582	0.0582	0.0571	0.0594	0.1014	0.0579	0.0578	0.0946	0.0919	0.0305	0.0323	0.1453	0.0047	0.0393	0.1014	0.0597	0.0621	0.0682	0.0505	0.0505	0.0521	0.0488	0.0637	0.0495	0.0492	0.0621	0.0614	0.0298	0.0462	0.0475	0.1510	0.0017	0.0370	0.0918	0.0637	0.0614	0.0559	0.461	0.08839	T	0.932	0.02759	T	0.005	0.12996	B	0.002	0.06944	B	0.001201	0.39899	N	0.211847	0.999403	0.46935	D	-0.105	0.04674	N	-2.66	0.90272	D	0.09	0.05917	N	0.031	0.00770	-0.8860	0.49273	T	0.060	0.24981	T	10	0.0015296042	0.00017	T	.	.	.	0.172	0.43662	.	.	.	.	0.686121190666775	0.68552	0.573721100839	0.53415	0.297033429146	0.09959	T	0.325293	0.69602	T	-0.524791	0.00412	T	-0.476345	0.24835	T	0.000768647569014637	0.00007	T	0.853715	0.53946	D	0.021481223	0.00753	0.025963206	0.00662	0.029005436	0.02326	0.025963206	0.00662	-3.672	0.18905	T	0.12925399021544368	0.13478	0.068	0.04316	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.999690	0.13782	10.33	0.86328323834373999	0.16463	0.25673	0.22769	N	AEFDBI	0.219392	0.34428	N	-0.96217036324778	0.09421	0.4458007	-0.827751153180889	0.13824	0.7191935	0.998921802827047	0.37985	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.2	1.28	0.20656	0.486000	0.22048	-3.237000	0.02946	-0.182000	0.10109	0.037000	0.20830	0.000000	0.08366	0.805000	0.37950	0.0:0.6252:0.0:0.3748	8.346	0.31437	594	0.68584	ABC transporter-like;.;ABC transporter-like;.;ABC transporter-like;ABC transporter-like;ABC transporter-like;ABC transporter-like	RP1-239B22.5|NCR3LG1|RP1-239B22.5|RP1-239B22.5|NCR3LG1|RP1-239B22.5|RP1-239B22.5|RP1-239B22.5|NCR3LG1|RP1-239B22.5|KCNJ11|NCR3LG1|NCR3LG1|RP1-239B22.5	Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Nerve_Tibial|Testis|Testis	.	.	rs8192690	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	0.088117	0.090909	0.103261	0.078947	0.000000	0.112069	0.100610	0.071970	0.1842	14515.4	214	chr11	17393023	.	C	T	14515.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.046;DP=1764;ExcessHet=2.9153;FS=1.108;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.134;SOR=0.584	GT:AD:DP:GQ:PL	0/1:91,106:197:99:2565,0,2110	12	0	7	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	445	728	343	0	1414	0.613715	.	.	.	167548	not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	19360.1	51	chr11	17395957	.	A	G	19360.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=2.47;DP=970;ExcessHet=0.0637;FS=3.727;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=25.47;ReadPosRankSum=0.222;SOR=0.419	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1757,153,0	5	8	6	0
chr11	17396823	17396823	C	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	16	869	514	123	0	760	0.304243	.	.	.	1166870	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	.	.	.	.	.	.	.	.	.	.	.	0.215855	.	.	.	.	.	.	.	.	0.0387317	5988	154602	rs4148644	0.1966	0.1974	0.1962	0.1971	0.2811	0.1960	0.1958	0.2762	0.2742	0.2811	0.1956	0.2030	0.0815	0.1224	0.2608	0.1993	0.1943	0.2164	0.2111	0.2113	0.2172	0.2047	0.2771	0.2092	0.2084	0.2729	0.2711	0.2771	0.1327	0.2051	0.1967	0.0754	0.1226	0.2177	0.1980	0.2055	0.2143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	3236.15	17	chr11	17396823	.	C	A	3236.15	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.709;DP=367;ExcessHet=0.0003;FS=2.194;InbreedingCoeff=0.6832;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=33.36;ReadPosRankSum=-0.653;SOR=0.258	GT:AD:DP:GQ:PL	0/1:5,10:15:99:359,0,167	14	3	2	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	0/1:26,32:58:99:873,0,643	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	0/1:6,6:12:99:180,0,112	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	0/1:14,16:30:99:490,0,431	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	0/1:21,29:50:99:773,0,662	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	0/1:15,39:54:99:992,0,331	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	0/1:48,69:117:99:1736,0,1128	8	5	6	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P,ABCC8:NM_001287174:exon2:c.T207C:p.P69P,ABCC8:NM_001351295:exon2:c.T207C:p.P69P,ABCC8:NM_001351296:exon2:c.T207C:p.P69P,ABCC8:NM_001351297:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	1	302	754	465	0	1684	0.736014	.	.	YES	167535	not_provided|Hyperinsulinemia|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|not_specified|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Permanent_neonatal_diabetes_mellitus	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN169374|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.599698	0.671717	0.631793	0.649123	0.550000	0.534483	0.521341	0.564394	0.5	60690.2	34	chr11	17474969	.	A	G	60690.2	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.118;DP=3073;ExcessHet=0.0125;FS=0.635;InbreedingCoeff=0.4737;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.11;ReadPosRankSum=-0.342;SOR=0.736	GT:AD:DP:GQ:PL	1/1:0,225:225:99:6741,675,0	7	7	5	0
chr11	62632636	62632636	G	A	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_001278193:exon6:c.C583T:p.R195C,GANAB:NM_001278192:exon7:c.C649T:p.R217C,GANAB:NM_001278194:exon8:c.C634T:p.R212C,GANAB:NM_001329222:exon9:c.C634T:p.R212C,GANAB:NM_001329223:exon9:c.C634T:p.R212C,GANAB:NM_001329224:exon9:c.C202T:p.R68C,GANAB:NM_001329225:exon9:c.C202T:p.R68C,GANAB:NM_198334:exon9:c.C925T:p.R309C,GANAB:NM_198335:exon10:c.C991T:p.R331C	Polycyctic kidney disease 3, Autosomal dominant	430	1067	25	0	0	25	0.0115794	.	.	.	724534	not_provided|Autosomal_dominant_polycystic_liver_disease|Chronic_kidney_disease	MedGen:C3661900|Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924|Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.717	.	0.0095	0.0103834	0.0083	0.0150	0.0067	0.0088	0.0020	0.0078	0.0088	0.0098	0.0080271	1241	154602	rs1063445	0.0067	0.0067	0.0066	0.0068	0.0186	0.0066	0.0065	0.0157	0.0146	0.0151	0.0043	0.0070	0.0082	0.0016	0.0186	0.0064	0.0079	0.0088	0.0075	0.0076	0.0077	0.0074	0.0133	0.0072	0.0070	0.0124	0.0120	0.0133	0.0011	0.0034	0.0081	0.0060	0.0008	0.0170	0.0056	0.0161	0.0108	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.94	0.76457	D	0.000312	0.45977	D	0.158034	1	0.81001	D	2.88	0.83451	M	-3.01	0.92208	D	-5.42	0.87835	D	0.654	0.69562	0.645	0.92482	D	0.789	0.92836	D	10	0.008801788	0.00199	T	.	.	.	0.717	0.89966	.	.	0.939732145296	0.93910	0.9146277663219602	0.91437	2.38724322197	0.97073	0.721068382263	0.70203	T	0.702843	0.91459	D	0.074549	0.61396	D	0.346632	0.90183	D	0.0281658785744699	0.01712	T	0.978677	0.92705	D	0.4566357	0.64461	0.35273233	0.60846	0.4085814	0.61323	0.35273233	0.60845	-7.504	0.57638	D	0.6457925916148197	0.71718	0.231	0.46424	B	.;.;.;.;.	.;.;.;.;.	5.172422	0.86702	29.0	0.99940139942126072	0.99767	0.94032	0.59908	D	AEFGBIJ	0.703360	0.65943	D	0.706471479556146	0.80056	7.210595	0.650084857993844	0.78616	6.912401	0.983753630049269	0.30609	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	1.966000	0.40105	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:1.0:0.0	16.255	0.82330	250	0.90192	.;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain	.	.	.	.	.	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	0.018127	0.005051	0.019022	0.035088	0.000000	0.008621	0.009146	0.015152	0.02632	1813.33	35	chr11	62632636	.	G	A	1813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.219;DP=818;ExcessHet=0;FS=4.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.712;SOR=1.047	GT:AD:DP:GQ:PL	0/1:59,73:132:99:1827,0,1382	18	0	1	0
chr11	66515549	66515549	G	A	exonic	BBS1	.	nonsynonymous SNV	BBS1:NM_024649:exon5:c.G442A:p.D148N	Bardet-Biedl syndrome 1, Autosomal recessive, Digenic recessive	4	1517	1	0	0	1	0.000329489	.	.	YES	640363	not_provided|BBS1-related_disorder|Bardet-Biedl_syndrome_1|Bardet-Biedl_syndrome	MedGen:C3661900|.|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.520	0.188629795649	.	0.00119808	0.0003	0	0	0	0	1.499e-05	0.0011	0.0022	0.0002846	44	154602	rs200688985	0.0002	0.0002	8.984e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	2.987e-05	0	0	5.038e-05	0	0	2.158e-05	9.935e-05	0.0023	0.0001	0.0001	3.857e-05	0.0002	0.0027	6.511e-05	5.322e-05	0.0016	0.0013	2.408e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0027	0.059	0.37536	T	0.074	0.92824	T	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	0.999999	0.81001	D	2.125	0.59049	M	-2.63	0.90083	D	-2.57	0.57110	D	0.328	0.38232	0.535	0.91031	D	0.775	0.92363	D	9	0.019747227	0.00445	T	0.18863	0.86013	D	0.520	0.79583	.	.	0.940085781844	0.93946	0.39826861741265235	0.39741	0.598451192957	0.56487	0.558984160423	0.47125	T	0.776773	0.94071	D	-0.332064	0.05956	T	-0.255621	0.49260	T	0.143794432760841	0.16597	T	0.884712	0.60854	D	0.09663092	0.22764	0.08473048	0.19514	0.09663092	0.22764	0.08473048	0.19513	-4.094	0.27994	T	0.21063055517451096	0.28224	0.147	0.40295	B	.;.;.;.;.	.;.;.;.;.	3.948492	0.57831	23.9	0.99622164983078232	0.75473	0.97183	0.73178	D	AEFDBI	0.551153	0.56334	D	0.219464113040687	0.52143	3.390407	0.145581991900104	0.46910	2.929273	0.744591249279758	0.23265	0.706548	0.73137	0	0.577304	0.33150	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.25	4.34	0.51267	6.325000	0.72861	9.755000	0.81488	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.0865:0.0:0.9135:0.0	11.670	0.50655	56	0.97520	.;Bardet-Biedl syndrome 1, N-terminal;Bardet-Biedl syndrome 1, N-terminal;.;Bardet-Biedl syndrome 1, N-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2578.33	43	chr11	66515549	.	G	A	2578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.225;DP=953;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.69;SOR=0.695	GT:AD:DP:GQ:PL	0/1:127,113:240:99:2592,0,2978	18	0	1	0
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	0	682	633	207	0	1047	0.43426	.	.	YES	18817	Oculocutaneous_albinism|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B|not_specified|Albinism_or_congenital_nystagmus	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	0.2748	0.123403	0.2518	0.0620	0.1918	0.0008	0.1818	0.3663	0.2907	0.1085	0.261019	40354	154602	rs1042602	0.3220	0.3220	0.3252	0.3188	0.3670	0.3213	0.3209	0.3661	0.3657	0.0507	0.2157	0.4485	0.0009	0.1815	0.3226	0.3670	0.3000	0.1142	0.2419	0.2419	0.2523	0.2311	0.3651	0.2398	0.2390	0.3613	0.3597	0.0668	0.3425	0.2714	0.4547	0.0023	0.1828	0.4048	0.3651	0.3011	0.0986	0.031	0.45039	D	0.003	0.76473	D	0.997	0.70673	D	0.974	0.73157	D	0.000008	0.62929	D	0.065875	0.999508	0.21084	P	1.845	0.48678	L	-5.1	0.98700	D	-2.79	0.59059	D	0.382	0.42345	-1.7843	0.00000	T	0.000	0.00039	T	8	0.0053822994	0.00118	T	.	.	.	0.355	0.67600	.	.	.	.	0.6892773878264551	0.68867	0.0688238525608	0.07705	0.439628481865	0.30526	T	0.88496	0.97618	D	-0.260349	0.12860	T	-0.00292912	0.70146	D	0.0152115171034676	0.00334	T	0.744526	0.36463	T	0.16305736	0.36423	0.21538205	0.46125	0.19196893	0.40846	0.22641657	0.47618	-9.607	0.71523	D	0.3624652220777897	0.45877	0.135	0.29228	B	.	.	4.082595	0.60747	24.3	0.99333304920791965	0.59856	0.86225	0.45465	D	AEFBI	0.785702	0.71601	D	0.494697286576891	0.66780	4.99452	0.417875167062087	0.62678	4.48737	0.993650488775012	0.33302	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.505000	0.60141	5.876000	0.50589	0.599000	0.40250	0.420000	0.26330	1.000000	0.68203	0.864000	0.41028	0.1393:0.8607:0.0:0.0	15.385	0.74410	864	0.32732	Tyrosinase copper-binding domain	CBX3P7|CTSC	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs1042602	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.325780	0.454545	0.342391	0.146199	0.200000	0.310345	0.426829	0.234848	0.3158	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	0/1:122,152:274:99:3981,0,3209	8	1	10	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	0/1:28,14:42:99:259,0,759	6	0	13	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	1/1:0,19:19:78:893,78,0	4	14	1	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	15	41	80	27	63	197	0.62037	.	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	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	0/1:31,29:66:99:596,0,613	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	1/1:0,31:31:93:1107,93,0	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	1/1:0,73:73:99:2187,219,0	1	12	6	0
chr12	49044207	49044207	G	A	exonic	KMT2D	.	synonymous SNV	KMT2D:NM_003482:exon22:c.C5181T:p.P1727P	Kabuki syndrome 1, Autosomal dominant	9	1511	2	0	0	2	0.000661376	.	.	.	266250	not_provided|Kabuki_syndrome	MedGen:C3661900|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0006	0.0011	0	0.000304	47	154602	rs201686029	0.0002	0.0002	0.0002	0.0003	0.0040	0.0002	0.0002	0.0026	0.0021	0.0001	0.0002	0.0010	2.52e-05	0	0.0040	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	9.636e-05	0	0.0003	0.0009	0	0	0.0034	0.0003	0.0009	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	0.003619	0.000000	0.008152	0.003125	0.000000	0.000000	0.000000	0.003846	0.02632	1143.33	40	chr12	49044207	.	G	A	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=795;ExcessHet=0;FS=8.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.465;SOR=1.545	GT:AD:DP:GQ:PL	0/1:47,43:90:99:1157,0,1103	18	0	1	0
chr12	70353913	70353913	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1622dupA:p.X541delinsX,CNOT2:NM_014515:exon16:c.1622dupA:p.X541delinsX,CNOT2:NM_001199302:exon17:c.1622dupA:p.X541delinsX	.	.	.	.	.	.	.	.	.	.	.	3863882	not_specified|Intellectual_developmental_disorder_with_nasal_speech,_dysmorphic_facies,_and_variable_skeletal_anomalies	MedGen:CN169374|MONDO:MONDO:0032832,MedGen:C5231426,OMIM:618608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5036	.	0.0016	0	0	0.0006	0.0211	0.0006	0.0029	0.0003	0.0020246	313	154602	rs751341232	0.1382	0.1516	0.1407	0.1355	0.1436	0.1376	0.1374	0.1430	0.1427	0.0908	0.1159	0.1155	0.1150	0.0887	0.1320	0.1436	0.1351	0.1247	0.2431	0.2567	0.2484	0.2366	0.2839	0.2401	0.2389	0.2795	0.2777	0.1744	0.2612	0.1891	0.3065	0.2514	0.1421	0.3182	0.2839	0.2272	0.2056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	1894.23	23	chr12	70353913	.	T	TA	1894.23	.	AC=4;AF=0.118;AN=34;BaseQRankSum=0.144;DP=1015;ExcessHet=3.4183;FS=2.518;InbreedingCoeff=-0.27;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=6.31;ReadPosRankSum=0.674;SOR=0.864	GT:AD:DP:GQ:PL	1/0:1,5:13:29:146,29,36	13	0	4	2
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	0/1:70,53:123:99:1288,0,1781	2	6	11	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	363	726	432	0	1590	0.686528	0	0.002	.	134677	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	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	.	.	.	.	.	.	.	.	0.5263	45289.9	207	chr12	120997672	.	G	A	45289.9	.	AC=20;AF=0.526;AN=38;BaseQRankSum=1.6;DP=2635;ExcessHet=5.5644;FS=0.544;InbreedingCoeff=-0.2667;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.206;SOR=0.636	GT:AD:DP:GQ:PL	0/1:69,75:144:99:1837,0,1782	3	4	12	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	1/1:0,38:38:99:.:.:1671,118,0:.	5	4	10	0
chr13	113118845	113118845	G	A	exonic	F7	.	nonsynonymous SNV	F7:NM_001267554:exon6:c.G986A:p.R329Q,F7:NM_019616:exon8:c.G1172A:p.R391Q,F7:NM_000131:exon9:c.G1238A:p.R413Q	Factor VII deficiency, Autosomal recessive	0	910	520	92	0	704	0.278922	.	.	YES	27119	not_provided|not_specified|Factor_VII_deficiency|Myocardial_infarction,_decreased_susceptibility_to|Factor_X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|.|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	.	0.11	0.138379	0.1341	0.1259	0.1018	0.0533	0.0751	0.1210	0.1437	0.2757	0.125995	19479	154602	rs6046	0.1165	0.1164	0.1107	0.1223	0.2761	0.1160	0.1158	0.2732	0.2720	0.1225	0.1074	0.1911	0.0599	0.0736	0.2135	0.1056	0.1239	0.2761	0.1163	0.1164	0.1162	0.1165	0.2740	0.1149	0.1143	0.2618	0.2568	0.1210	0.1725	0.1158	0.2056	0.0477	0.0697	0.1803	0.1088	0.1317	0.2740	0.228	0.26519	T	0.165	0.30926	T	0.254	0.32525	B	0.005	0.13708	B	0.521729	0.11734	N	0.744753	1	0.08975	P	0.615	0.15706	N	-1.51	0.81399	D	-1.16	0.29727	N	0.085	0.06190	-1.1082	0.03229	T	0.005	0.01688	T	9	0.003981173	0.00077	T	.	.	.	0.188	0.46444	.	.	.	.	0.4174972918572176	0.41665	0.218615771125	0.24401	0.259455680847	0.04827	T	0.414242	0.76786	T	-0.531236	0.00378	T	-0.39204	0.34312	T	0.0032045131440866	0.00034	T	0.60024	0.22396	T	0.28302434	0.51337	0.20696844	0.44935	0.22008178	0.44555	0.15338038	0.36043	-4.203	0.26795	T	0.14956450594880755	0.17500	0.070	0.05060	B	.;.;.	.;.;.	0.864100	0.12365	8.904	0.9372641218980059	0.23653	0.01261	0.04425	N	AEFDBI	0.454247	0.50704	N	-1.30176004106169	0.03655	0.1636765	-1.42064976557785	0.03046	0.1413473	0.992292572482251	0.32788	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.11	-4.6	0.03148	-0.090000	0.11129	-0.358000	0.09695	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.5017:0.0:0.3766:0.1217	5.957	0.18512	988	0.01987	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	F7|F7|F10|F10|F10|F7|F7|F7|F7|F7|F7|F7|F10|F7|F10|F7|F7|F10|F7|F10|F7|F7|F10|F7|F7|F10|F10|F7|F10|F7|F7|F10|F7|F7|F7|F7|F7|F7|F10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid	MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L	Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs6046	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.189325	0.080808	0.174387	0.211765	0.100000	0.215517	0.189024	0.238636	0.3421	55470.2	357	chr13	113118845	.	G	A	55470.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=2.99;DP=3072;ExcessHet=0.0278;FS=0;InbreedingCoeff=0.4154;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=21.01;ReadPosRankSum=0.155;SOR=0.711	GT:AD:DP:GQ:PL	0/1:143,153:296:99:3684,0,3359	10	4	5	0
chr14	23389062	23389062	-	G	intronic	MYH6	.	.	.	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	.	.	.	.	.	.	.	.	.	.	175563	Atrial_septal_defect|not_specified|Hypertrophic_cardiomyopathy_14|Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478|MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|MedGen:CN239310|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0003	0.0039	0.0059	0.0036	0.0031	0.0056	0.0123	0.0001153	3	26028	rs730880363	0.0037	0.0064	0.0032	0.0041	0.0132	0.0036	0.0035	0.0106	0.0103	0.0004	0.0052	0.0042	0.0070	0.0075	0.0132	0.0028	0.0036	0.0113	0.0071	0.0072	0.0067	0.0075	0.0216	0.0067	0.0066	0.0176	0.0162	0.0013	0.0074	0.0094	0.0096	0.0148	0.0058	0.0331	0.0096	0.0119	0.0216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	8671.05	40	chr14	23389062	.	A	AG	8671.05	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.78;DP=1043;ExcessHet=2.8258;FS=1.157;InbreedingCoeff=-0.1846;MLEAC=2;MLEAF=0.056;MQ=59.97;MQRankSum=0;QD=15.08;ReadPosRankSum=0.346;SOR=0.812	GT:AD:DP:GQ:PL	0/1:19,13:34:99:260,0,454	16	0	2	1
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	0/1:85,78:163:99:2038,0,2279	11	1	7	0
chr14	67789467	67789467	C	G	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon16:c.G2887C:p.V963L	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1486	36	0	0	36	0.0119681	.	.	.	186194	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	.	.	.	.	.	.	.	.	0.040	.	0.0068	0.00579073	0.0076	0.0023	0.0087	0	0.0023	0.0102	0.0067	0.0063	0.0074643	1154	154602	rs116890187	0.0076	0.0076	0.0075	0.0076	0.0101	0.0074	0.0074	0.0080	0.0076	0.0014	0.0085	0.0312	0	0.0030	0.0101	0.0077	0.0088	0.0059	0.0061	0.0061	0.0063	0.0060	0.0082	0.0058	0.0057	0.0075	0.0073	0.0015	0.0077	0.0082	0.0288	0.0002	0.0035	0.0170	0.0081	0.0062	0.0070	0.249	0.17239	T	0.154	0.32040	T	0.323	0.33082	B	0.073	0.28123	B	0.000137	0.49741	D	0.135046	0.948201	0.37600	D	.	.	.	1.88	0.26445	T	-0.2	0.11913	N	0.282	0.31925	-1.0803	0.07291	T	0.044	0.18824	T	10	0.006394297	0.00145	T	.	.	.	0.040	0.10527	.	.	0.195762928549	0.19159	0.29534988246284377	0.29447	0.294966467055	0.31910	0.441502094269	0.30782	T	0.008366	0.07688	T	-0.478341	0.00756	T	-0.450485	0.27644	T	0.00486648123826206	0.00052	T	0.840916	0.51656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.46261	B	.;.	.;.	1.828140	0.23228	15.94	0.98282560967596055	0.39870	0.88251	0.48095	D	AEFGBI	0.122124	0.23712	N	0.0833295425353199	0.45685	2.820986	0.233454900218796	0.51713	3.351511	0.935564017875048	0.27218	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	4.73	0.59485	2.746000	0.47143	0.795000	0.21604	0.599000	0.40250	0.994000	0.38300	0.249000	0.23905	0.972000	0.54974	0.0:0.9241:0.0:0.0759	15.756	0.77798	183	0.92871	.;.	.	.	.	.	.	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	0.010574	0.025253	0.013587	0.002924	0.000000	0.008621	0.003049	0.011364	0.02632	1487.33	40	chr14	67789467	.	C	G	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.825;DP=783;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.445;SOR=0.756	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1501,0,1756	18	0	1	0
chr14	73961263	73961263	G	A	exonic	COQ6	.	nonsynonymous SNV	COQ6:NM_182476:exon9:c.G982A:p.A328T,COQ6:NM_182480:exon9:c.G907A:p.A303T	Coenzyme Q10 deficiency, primary, 6, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	211683	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.056	0.0159652514301	.	0.000199681	0.0003	0	0	0	0	0	0	0.0023	0.0002458	38	154602	rs564107029	0.0001	0.0001	6.942e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	2.987e-05	0	0	0	0	0.0003	2.698e-06	8.279e-05	0.0022	6.567e-05	6.561e-05	3.855e-05	9.401e-05	0.0017	3.514e-05	2.615e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0017	0.527	0.13262	T	0.596	0.08390	T	0.03	0.47557	B	0.102	0.45259	B	0.000099	0.51296	D	0.205916	0.965309	0.81001	D	1.1	0.28011	L	0.9	0.55945	T	-0.45	0.23156	N	0.118	0.10769	-1.0039	0.28785	T	0.143	0.46495	T	10	0.015718043	0.00330	T	0.015965	0.36990	T	0.056	0.15993	0.508	0.60386	0.574533306093	0.57122	0.4916409407676685	0.49085	0.717079257178	0.62030	0.333456277847	0.15455	T	0.072606	0.40940	T	-0.365236	0.03843	T	-0.30327	0.44378	T	0.0974821506386098	0.12078	T	0.875712	0.61484	D	0.08172785	0.18793	0.09306714	0.21963	0.0805524	0.18464	0.10137892	0.24267	-4.329	0.37865	T	.	.	0.071	0.07841	B	.;.;.;.	.;.;.;.	3.417220	0.47432	22.5	0.99252660754251565	0.56924	0.95684	0.65718	D	AEFGBI	0.522804	0.54666	D	0.0710670105650485	0.45117	2.773631	0.224800470244578	0.51227	3.307092	0.999603626330051	0.40866	0.732398	0.92422	0	0.577304	0.33150	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.33	5.33	0.75683	3.383000	0.52206	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.1439:0.8561:0.0	14.777	0.69359	401	0.82673	.;.;.;.	.	.	.	.	.	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	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3817.83	33	chr14	73961263	.	G	A	3817.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.025;DP=854;ExcessHet=0.119;FS=2.734;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.89;SOR=0.55	GT:AD:DP:GQ:PL	0/1:61,69:130:99:1841,0,1715	17	0	2	0
chr14	88426588	88426588	C	T	exonic	SPATA7	.	synonymous SNV	SPATA7:NM_001040428:exon5:c.C633T:p.R211R,SPATA7:NM_018418:exon6:c.C729T:p.R243R	Leber congenital amaurosis 3;Retinitis pigmentosa, juvenile, autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	YES	101804	Leber_congenital_amaurosis_3|not_provided|Retinitis_pigmentosa|not_specified	MONDO:MONDO:0011415,MedGen:C1858677,OMIM:604232|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0032	0.000998403	0.0024	0.0003	0.0034	0	0.0005	0.0032	0.0022	0.0022	0.0024126	373	154602	rs151338404	0.0031	0.0031	0.0031	0.0030	0.0035	0.0030	0.0030	0.0034	0.0034	0.0006	0.0028	0.0002	0	0.0004	0.0014	0.0035	0.0023	0.0030	0.0018	0.0018	0.0017	0.0018	0.0027	0.0016	0.0015	0.0024	0.0022	0.0006	0	0.0027	0.0003	0	0.0002	0	0.0027	0.0024	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1714.33	35	chr14	88426588	.	C	T	1714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.565;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.227;SOR=0.658	GT:AD:DP:GQ:PL	0/1:69,72:141:99:1728,0,1804	18	0	1	0
chr14	95115562	95115562	G	A	intronic	DICER1	.	.	.	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	23	1096	320	83	0	486	0.181479	.	.	.	505595	not_provided|DICER1-related_tumor_predisposition|not_specified	MedGen:C3661900|MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.165735	.	.	.	.	.	.	.	.	0.0356852	5517	154602	rs2275182	0.1908	0.1888	0.1943	0.1875	0.3161	0.1901	0.1899	0.3105	0.3082	0.3161	0.1109	0.2679	0.0414	0.1976	0.2523	0.2055	0.1914	0.0828	0.2199	0.2200	0.2255	0.2140	0.3112	0.2179	0.2171	0.3067	0.3049	0.3112	0.2314	0.1592	0.2689	0.0394	0.1958	0.2891	0.2018	0.2343	0.0806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	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	0/1:9,7:16:99:240,0,256	8	1	10	0
chr14	104707526	104707531	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1259_1264del:p.P427_P428del,INF2:NM_022489:exon8:c.1259_1264del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	.	.	.	.	.	.	.	.	.	335402	Focal_segmental_glomerulosclerosis|not_provided|not_specified	Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0210	.	0.0865	0.0332	0.0538	0.0084	0	0.0878	0.1077	0.0921	0.0013063	34	26028	rs775646511	0.0829	0.0766	0.0815	0.0844	0.1200	0.0825	0.0823	0.1107	0.1070	0.0659	0.0562	0.1174	0.0148	0.0608	0.1200	0.0856	0.0913	0.0790	0.0600	0.0698	0.0625	0.0573	0.0723	0.0589	0.0584	0.0705	0.0697	0.0477	0.0566	0.0530	0.1011	0.0083	0.0377	0.0756	0.0723	0.0676	0.0603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	9564.02	80	chr14	104707525	.	ACCCCAC	A	9564.02	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.915;DP=1182;ExcessHet=0.1204;FS=2.589;InbreedingCoeff=0.272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=33.21;ReadPosRankSum=2.47;SOR=0.392	GT:AD:DP:GQ:PL	0/1:2,6:46:99:1382,1244,1472	18	0	1	0
chr15	22786677	22786677	-	GCGGCG	exonic	NIPA1	.	nonframeshift insertion	NIPA1:NM_144599:exon1:c.21_22insGCGGCG:p.A16_G17insAA	Spastic paraplegia 6, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	190660	Spastic_paraplegia,_autosomal_dominant|Hereditary_spastic_paraplegia|not_specified|not_provided|Hereditary_spastic_paraplegia_6	MedGen:C0751602|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010878,MedGen:C1838192,OMIM:600363,Orphanet:100988	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1177333878	0.0143	0.0105	0.0142	0.0144	0.0149	0.0141	0.0140	0.0146	0.0145	0.0121	0.0032	0.0090	0.0027	0.0061	0.0148	0.0149	0.0121	0.0115	0.0141	0.0139	0.0147	0.0135	0.0172	0.0136	0.0134	0.0163	0.0160	0.0146	0.0436	0.0066	0.0095	0.0039	0.0060	0.0035	0.0172	0.0113	0.0149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	6426.39	31	chr15	22786677	.	A	AGCGGCG	6426.39	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.209;DP=549;ExcessHet=1.8686;FS=2.19;InbreedingCoeff=-0.0859;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=23.71;ReadPosRankSum=0.713;SOR=0.568	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1525,105,0	18	1	0	0
chr15	34791307	34791307	-	CA	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322315	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_restrictive_cardiomyopathy|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided|Atrial_septal_defect	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210,Orphanet:217635|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:CN239310|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs767357797	0.0537	0.0905	0.0502	0.0571	0.0877	0.0533	0.0532	0.0859	0.0852	0.0708	0.0676	0.0639	0.0823	0.0800	0.0619	0.0460	0.0657	0.0877	0.1194	0.1243	0.1202	0.1185	0.1444	0.1179	0.1173	0.1412	0.1399	0.1444	0.0293	0.0882	0.0608	0.1144	0.1094	0.0899	0.1172	0.1079	0.1395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	38094.6	96	chr15	34791307	.	T	TCA	38094.6	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.584;DP=2645;ExcessHet=0.1204;FS=0.924;InbreedingCoeff=0.272;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=32.9;ReadPosRankSum=-0.06;SOR=0.854	GT:AD:DP:GQ:PL	1/0:6,29:73:99:1880,1208,1268	12	0	7	0
chr15	34791308	34791311	CACA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322319	Cardiovascular_phenotype|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.244808	.	.	.	.	.	.	.	.	0.0038036	99	26028	rs572654192	0.0856	0.1084	0.0840	0.0873	0.0998	0.0852	0.0850	0.0966	0.0953	0.0998	0.0810	0.1028	0.0190	0.1503	0.0970	0.0833	0.0926	0.0968	0.1173	0.1181	0.1162	0.1185	0.1258	0.1158	0.1151	0.1191	0.1182	0.1072	0.0878	0.1032	0.1344	0.0167	0.1954	0.1007	0.1214	0.1224	0.1258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	38094.6	96	chr15	34791307	.	TCACA	T	38094.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.584;DP=2645;ExcessHet=0.1204;FS=0.924;InbreedingCoeff=0.272;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=32.9;ReadPosRankSum=-0.06;SOR=0.854	GT:AD:DP:GQ:PL	0/1:6,31:73:99:1880,614,1230	14	0	5	0
chr15	42729615	42729615	G	A	exonic	CDAN1	.	nonsynonymous SNV	CDAN1:NM_138477:exon17:c.C2360T:p.A787V	Dyserythropoietic anemia, congenital, type Ia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	873475	Congenital_dyserythropoietic_anemia,_type_I|Anemia,_congenital_dyserythropoietic,_type_1a|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0020337,MedGen:C0271933,Orphanet:98869|MONDO:MONDO:0009135,MedGen:C5574667,OMIM:224120|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.103	0.0175297411644	0.0005	0.000998403	0.0006	9.743e-05	0.0002	0.0055	0	0.0003	0	6.085e-05	0.0005239	81	154602	rs138839403	0.0004	0.0004	0.0004	0.0004	0.0025	0.0004	0.0004	0.0021	0.0019	5.974e-05	0.0003	7.653e-05	0.0025	1.872e-05	0.0002	0.0004	0.0003	6.956e-05	0.0004	0.0004	0.0004	0.0003	0.0050	0.0003	0.0003	0.0035	0.0030	7.231e-05	0	0.0003	0	0.0050	0	0	0.0003	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.019810	0.27175	N	0.464879	0.99998	0.18612	N	-1.355	0.00654	N	-1.06	0.76819	T	0.96	0.01488	N	0.233	0.26233	-0.9769	0.35705	T	0.158	0.49145	T	10	0.008160323	0.00185	T	0.01753	0.39265	T	0.103	0.29403	.	.	0.117191471859	0.11215	0.371492135375989	0.37063	0.0805848671954	0.09068	0.241395711899	0.02917	T	0.117238	0.43717	T	-0.477057	0.00770	T	-0.455424	0.27099	T	0.00718153730409955	0.00082	T	0.688631	0.29780	T	0.029948713	0.02575	0.04521096	0.06031	0.029948713	0.02574	0.04521096	0.06031	-1.806	0.02527	T	0.040849678322198636	0.00375	0.056	0.00444	B	.	.	1.442028	0.18620	13.83	0.18756881556305091	0.00604	0.11632	0.16761	N	AEFDBCI	0.013967	0.00205	N	-1.02227529827722	0.08142	0.380768	-0.851037764307212	0.13263	0.6870478	0.999553179985763	0.40362	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.6	3.16	0.35406	3.054000	0.49600	6.146000	0.54124	-0.120000	0.14102	0.939000	0.32602	1.000000	0.68203	0.192000	0.21661	0.8582:0.0:0.1418:0.0	9.760	0.39694	83	0.96533	Codanin-1, C-terminal 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	.	.	.	.	.	.	.	.	0.02632	1261.33	46	chr15	42729615	.	G	A	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.36;DP=883;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.991;SOR=0.669	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1275,0,1164	18	0	1	0
chr15	45112675	45112675	A	C	exonic	DUOX2	.	synonymous SNV	DUOX2:NM_001363711:exon4:c.T204G:p.G68G,DUOX2:NM_014080:exon4:c.T204G:p.G68G	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	739647	Thyroid_dyshormonogenesis_6|not_provided	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0010	0	0	0.0125	0	0	0.0023	0.0004	0.0008344	129	154602	rs185014205	0.0003	0.0003	0.0003	0.0003	0.0094	0.0003	0.0003	0.0086	0.0083	0	0	0	0.0094	0	0	4.497e-06	0.0003	0.0002	0.0005	0.0005	0.0004	0.0005	0.0128	0.0004	0.0004	0.0103	0.0094	0	0	6.537e-05	0	0.0128	0	0	0	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	979.33	36	chr15	45112675	.	A	C	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.486;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.255;SOR=0.796	GT:AD:DP:GQ:PL	0/1:33,40:73:99:993,0,851	18	0	1	0
chr15	50586433	50586433	G	A	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon28:c.C4445T:p.T1482I,TRPM7:NM_017672:exon28:c.C4445T:p.T1482I	.	433	876	190	23	0	236	0.118712	.	.	.	19846	Amyotrophic_lateral_sclerosis-parkinsonism/dementia_complex_1,_susceptibility_to|TRPM7-related_disorder|Juvenile_amyotrophic_lateral_sclerosis|not_provided	.|.|MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	.	0.0797	0.0758786	0.0870	0.0202	0.0527	0.0765	0.0530	0.0998	0.0926	0.1180	0.0873598	13506	154602	rs8042919	0.1013	0.1018	0.1007	0.1018	0.1383	0.1008	0.1007	0.1352	0.1340	0.0163	0.0587	0.0692	0.1383	0.0548	0.0875	0.1069	0.0999	0.1075	0.0751	0.0751	0.0765	0.0737	0.1220	0.0740	0.0735	0.1139	0.1107	0.0215	0.0768	0.0644	0.0793	0.0980	0.0531	0.0952	0.1082	0.0804	0.1220	0.247	0.39575	T	0.121	0.42436	T	0.186	0.29254	B	0.098	0.30479	B	0.953328	0.08272	N	0.978397	0.717259	0.29956	P	0.895	0.22405	L	0.53	0.55266	T	-1.36	0.37375	N	0.014	0.00445	-1.0529	0.13601	T	0.002	0.00738	T	9	0.0014967024	0.00017	T	.	.	.	0.037	0.09474	.	.	.	.	0.3374016641413803	0.33653	0.130681104142	0.14746	0.357630670071	0.19040	T	0.195563	0.55168	T	-0.662195	0.00061	T	-0.580153	0.14532	T	0.00958415804392686	0.00124	T	0.585341	0.21547	T	0.020128323	0.00561	0.032518517	0.02001	0.020128323	0.00560	0.032518517	0.02001	-4.246	0.27412	T	.	.	0.126	0.34711	B	.;.;.	.;.;.	2.320220	0.29709	18.21	0.98708867514803611	0.45025	0.74352	0.36372	D	AEFBI	0.079394	0.16036	N	-0.34388404852293	0.27498	1.509134	-0.227690699432226	0.30549	1.720951	0.0124718101751214	0.12332	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.25	2.19	0.26890	1.985000	0.40289	2.360000	0.32366	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.1071:0.1809:0.5253:0.1866	2.709	0.04851	544	0.72685	.;.;.	SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|TRPM7|SPPL2A|RP11-562A8.4|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|TNFAIP8L3|SPPL2A|SPPL2A|SPPL2A|GLDN|TRPM7|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|AP4E1|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|RP11-562A8.5|USP50|SPPL2A|SPPL2A|AP4E1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Whole_Blood	SPPL2A|RP11-562A8.5|RP11-562A8.4|USP50	Cells_Cultured_fibroblasts|Testis|Testis|Testis	rs8042919	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	0.087702	0.071429	0.084239	0.070175	0.050000	0.120690	0.097561	0.090909	0.1053	4781.43	136	chr15	50586433	.	G	A	4781.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.41;DP=1092;ExcessHet=0.7564;FS=1.118;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=1.18;SOR=0.608	GT:AD:DP:GQ:PL	0/1:67,50:117:99:1158,0,1709	15	0	4	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	1/1:0,132:132:99:3690,395,0	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	0/1:1,2:3:27:62,0,27	6	3	5	5
chr16	3243257	3243257	C	A	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon10:c.G2230T:p.A744S	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1489	32	1	0	34	0.0112882	.	.	YES	17587	not_provided|Familial_Mediterranean_fever|Familial_Mediterranean_fever,_autosomal_dominant|not_specified|MEFV-related_disorder|Inborn_genetic_diseases|Acute_febrile_neutrophilic_dermatosis|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.365	0.0149765821512	0.0013	0.00179712	0.0015	0.0004	0.0018	0	0.0008	0.0021	0.0011	0.0004	0.0015265	236	154602	rs61732874	0.0016	0.0016	0.0016	0.0016	0.0151	0.0016	0.0016	0.0125	0.0116	0.0007	0.0029	0.0132	0	0.0004	0.0151	0.0014	0.0026	0.0004	0.0017	0.0017	0.0018	0.0017	0.0041	0.0015	0.0015	0.0032	0.0030	0.0006	0	0.0041	0.0124	0	0.0003	0.0136	0.0017	0.0047	0	0.423	0.09746	T	0.623	0.07368	T	0.0	0.02946	B	0.001	0.04355	B	0.065246	0.21894	N	0.331114	1	0.81001	D	-1.595	0.00428	N	-0.31	0.68030	T	1.05	0.01488	N	0.194	0.70702	-0.9319	0.43859	T	0.026	0.11220	T	9	0.0056206584	0.00125	T	0.014977	0.35442	T	0.365	0.68495	.	.	0.497214377195	0.49355	0.1082556167298569	0.10754	0.103948646117	0.11761	0.248399183154	0.03601	T	0.291593	0.66434	T	-0.335292	0.05721	T	-0.258703	0.48953	T	0.00430496246277024	0.00046	T	0.537046	0.18930	T	0.102533445	0.24229	0.07548105	0.16620	0.0862295	0.20033	0.062804714	0.12343	-0.836	0.01229	T	.	.	0.065	0.02091	B	.;.;.	.;.;.	0.010176	0.04355	1.114	0.21013980907273649	0.00782	0.48850	0.28300	N	AEFDBHI	0.196112	0.32311	N	-2.04489251638773	0.00169	0.007246577	-1.86378373459854	0.00576	0.02556432	0.9996164345938	0.40981	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.6	-3.05	0.05069	0.648000	0.24515	.	.	-1.767000	0.00669	0.893000	0.31264	0.006000	0.19429	0.002000	0.04165	0.4422:0.2087:0.0:0.3491	4.186	0.09859	784	0.47045	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY 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	0.012588	0.005051	0.010870	0.032164	0.000000	0.025862	0.003049	0.007576	0.02632	2496.33	38	chr16	3243257	.	C	A	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=835;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=3.19;SOR=0.511	GT:AD:DP:GQ:PL	0/1:106,95:201:99:2510,0,2637	18	0	1	0
chr16	15696822	15696822	A	T	exonic	NDE1	.	nonsynonymous SNV	NDE1:NM_017668:exon8:c.A909T:p.R303S,NDE1:NM_001143979:exon9:c.A909T:p.R303S	Lissencephaly 4 (with microcephaly), Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	429776	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.0070883514405	.	0.00119808	0.0005	0	0	0	0	0	0	0.0039	0.0004657	72	154602	rs538373943	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	2.987e-05	0	0	0	0	0.0007	3.597e-06	0.0003	0.0032	0.0001	0.0001	7.712e-05	0.0001	0.0031	7.089e-05	5.746e-05	0.0019	0.0016	0	0	6.545e-05	0	0	0	0.0034	0	0	0.0031	0.242	0.17584	T	0.857	0.05663	T	0.002	0.09854	B	0.003	0.08700	B	0.015222	0.28305	N	0.412983	0.999999	0.08975	N	0.805	0.20218	L	.	.	.	0.95	0.01509	N	0.199	0.22486	-0.9881	0.33077	T	0.068	0.27980	T	9	0.004129559	0.00081	T	0.007088	0.18786	T	0.051	0.14325	0.458	0.52427	0.194818534648	0.19098	0.40627632247168693	0.40543	0.0829935287975	0.09363	0.310200691223	0.11937	T	0.041592	0.25909	T	-0.491282	0.00639	T	-0.479942	0.24452	T	0.0166482436122529	0.00424	T	0.849515	0.58433	T	0.051304705	0.09400	0.058235094	0.10727	0.052860986	0.09919	0.06417428	0.12823	-3.729	0.19747	T	.	.	0.164	0.46238	B	.;.;.;.;.	.;.;.;.;.	0.525375	0.08943	5.722	0.66330036007358506	0.08027	0.25576	0.22740	N	AEFDBI	0.137880	0.25900	N	-1.4368682715203	0.02322	0.102395	-1.5078236834773	0.02283	0.1047737	0.463946100715928	0.20648	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	-6.0	0.02021	0.031000	0.13598	0.156000	0.15349	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2971:0.1078:0.5951:0.0	13.300	0.59757	319	0.87030	NUDE domain;NUDE domain;NUDE domain;NUDE domain;NUDE 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	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1761.33	34	chr16	15696822	.	A	T	1761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.931;SOR=0.716	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1775,0,1657	18	0	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	0/1:58,16:86:93:151,0,1285	11	0	8	0
chr16	16190259	16190259	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon12:c.G1540A:p.V514I,ABCC6:NM_001351800:exon12:c.G1198A:p.V400I	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	0	1501	19	2	0	23	0.00760331	.	.	.	427008	Autosomal_recessive_inherited_pseudoxanthoma_elasticum|ABCC6-related_disorder|not_provided|not_specified|Pseudoxanthoma_elasticum,_forme_fruste|Arterial_calcification,_generalized,_of_infancy,_2	MONDO:MONDO:0009925,MedGen:C1275116,OMIM:264800,Orphanet:758|.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758|MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.163	0.033046240668	0.0005	0.000399361	0.0010	0.0005	0.0016	0	0	0.0006	0	0.0032	0.000912	141	154602	rs59157279	0.0007	0.0007	0.0006	0.0008	0.0102	0.0007	0.0007	0.0081	0.0074	0.0002	0.0016	0.0025	0	0	0.0102	0.0004	0.0012	0.0033	0.0005	0.0006	0.0005	0.0006	0.0017	0.0005	0.0004	0.0008	0.0006	0.0003	0	0.0008	0.0037	0	0	0.0068	0.0005	0.0014	0.0017	0.181	0.21884	T	0.29	0.21011	T	0.166	0.28547	B	0.09	0.29851	B	0.104366	0.19706	U	0.347007	0.99507	0.42533	D	0.63	0.15941	N	-2.36	0.88143	D	-0.63	0.18459	N	0.151	0.15469	-0.5378	0.67247	T	0.458	0.78941	T	10	0.012797385	0.00274	T	0.033046	0.54705	D	0.163	0.42028	.	.	0.546908861191	0.54346	0.5153553782072774	0.51458	0.0645801275031	0.07206	0.338811844587	0.16260	T	0.197894	0.55470	T	-0.38013	0.03110	T	-0.322172	0.42336	T	0.00753238957622457	0.00087	T	0.660434	0.26965	T	0.053384278	0.10094	0.051525753	0.08311	0.044016052	0.06964	0.0441372	0.05651	-5.171	0.39476	T	0.1380891702148715	0.15249	0.079	0.07083	B	.;.	.;.	1.427865	0.18454	13.75	0.98217761430772799	0.39272	0.58761	0.30729	D	AEFBCI	0.127042	0.24424	N	-0.591675811368094	0.19197	1.002777	-0.565475637671921	0.20396	1.098663	0.819202841281706	0.24493	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.07	0.159	0.14256	1.654000	0.36950	-0.239000	0.10608	0.598000	0.34611	0.994000	0.38300	0.000000	0.08366	0.128000	0.19490	0.0:0.6097:0.132:0.2583	7.399	0.26125	889	0.27310	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane 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	1	0	0	0	0.008560	0.010101	0.010870	0.023392	0.000000	0.000000	0.003049	0.007576	0.02632	2080.33	35	chr16	16190259	.	C	T	2080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.132;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.177;SOR=0.684	GT:AD:DP:GQ:PL	0/1:82,88:170:99:2094,0,2000	18	0	1	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	0/1:19,12:42:99:225,0,374	1	0	18	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	243	0.90483	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.041667	0.02632	958.33	55	chr16	30525595	.	T	C	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=957;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-2.158;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,37:74:99:972,0,883	18	0	1	0
chr16	86513394	86513394	-	T	UTR3	FOXF1	NM_001451:c.*309_*310insT	.	.	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	1165	284	20	53	0	126	0.181556	.	.	.	336349	Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment|not_provided	MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18799	4893	26028	rs11392376	0.3517	0.2949	0.3418	0.3609	0.7850	0.3497	0.3489	0.7685	0.7618	0.7850	0.3611	0.3453	0.1825	0.3261	0.4485	0.3177	0.3568	0.4954	0.4602	0.4615	0.4635	0.4567	0.7838	0.4573	0.4561	0.7766	0.7737	0.7838	0.2923	0.3829	0.3420	0.1934	0.3376	0.5272	0.3267	0.4238	0.4940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	546.16	.	chr16	86513394	.	C	CT	546.16	.	AC=6;AF=0.25;AN=24;BaseQRankSum=0.674;DP=47;ExcessHet=0.0071;FS=0;InbreedingCoeff=0.33;MLEAC=8;MLEAF=0.333;MQ=60;MQRankSum=0;QD=34.14;ReadPosRankSum=1.15;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:0|1:86513394_C_CT:123,0,33:86513394	8	2	2	7
chr16	88431697	88431697	G	A	exonic	ZNF469	.	synonymous SNV	ZNF469:NM_001367624:exon3:c.G4227A:p.P1409P	Brittle cornea syndrome 1, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	326686	not_provided|Brittle_cornea_syndrome_1|Ehlers-Danlos_syndrome|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0057	0.0006	0	0	0	0.0004	0	0.0126	0.0008473	131	154602	rs371897217	0.0011	0.0011	0.0008	0.0015	0.0152	0.0011	0.0011	0.0145	0.0142	0.0002	2.801e-05	0.0011	5.596e-05	0.0015	0.0012	0.0002	0.0010	0.0152	0.0009	0.0009	0.0006	0.0011	0.0178	0.0007	0.0007	0.0148	0.0137	0.0004	0.0011	6.531e-05	0.0009	0	0.0009	0	0.0002	0.0009	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3338.33	108	chr16	88431697	.	G	A	3338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.59;DP=2020;ExcessHet=0;FS=1.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.378;SOR=0.821	GT:AD:DP:GQ:PL	0/1:114,115:229:99:3352,0,2894	18	0	1	0
chr16	88733964	88733964	-	TCC	exonic	PIEZO1	.	nonframeshift insertion	PIEZO1:NM_001142864:exon17:c.2270_2271insGGA:p.E756_D757insE	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	0	218	7	0	1	8	0.0158014	.	.	.	1196173	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00439297	0.0109	0.0108	0.0111	0	0	0.0082	0	0.0150	0.0010758	28	26028	rs770832408	0.0059	0.0058	0.0057	0.0062	0.0200	0.0058	0.0058	0.0170	0.0159	0.0154	0.0063	0.0069	0.0007	0.0040	0.0200	0.0052	0.0076	0.0126	0.0086	0.0087	0.0085	0.0088	0.0152	0.0082	0.0081	0.0142	0.0138	0.0152	0.0088	0.0120	0.0093	0.0006	0.0028	0.0170	0.0054	0.0105	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4365.75	33	chr16	88733964	.	G	GTCC	4365.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.839;DP=994;ExcessHet=0.3672;FS=1.515;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=0.446;SOR=0.747	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1508,0,1489	16	0	3	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	0/1:6,5:11:99:191,0,238	12	1	6	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	0/1:65,41:114:99:131,0,975	4	0	15	0
chr17	8108526	8108526	C	T	exonic	ALOXE3	.	synonymous SNV	ALOXE3:NM_001369446:exon12:c.G1623A:p.E541E,ALOXE3:NM_001165960:exon13:c.G2022A:p.E674E,ALOXE3:NM_021628:exon13:c.G1626A:p.E542E	Ichthyosis, congenital, autosomal recessive 3, Autosomal recessive	0	1493	27	2	0	31	0.0102751	.	.	.	340810	not_provided|Autosomal_recessive_congenital_ichthyosis_3	MedGen:C3661900|MONDO:MONDO:0011680,MedGen:C3539888,OMIM:606545	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.000199681	0.0015	0.0004	0.0010	0	0.0011	0.0018	0.0011	0.0019	0.0016171	250	154602	rs139454209	0.0020	0.0020	0.0020	0.0021	0.0028	0.0020	0.0020	0.0023	0.0022	0.0004	0.0010	0.0003	2.52e-05	0.0006	0.0028	0.0023	0.0017	0.0020	0.0012	0.0012	0.0012	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0003	0	0.0010	0	0.0002	0.0002	0.0034	0.0021	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002022	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1724.33	40	chr17	8108526	.	C	T	1724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.309;DP=790;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.654;SOR=0.62	GT:AD:DP:GQ:PL	0/1:85,72:157:99:1738,0,2104	18	0	1	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	0/1:122,111:233:99:.:.:4241,0,4664:.	0	0	19	0
chr17	31340609	31340609	G	A	exonic	NF1	.	synonymous SNV	NF1:NM_000267:exon46:c.G6963A:p.L2321L,NF1:NM_001042492:exon47:c.G7026A:p.L2342L	Leukemia, juvenile myelomonocytic, Autosomal dominant, Somatic mutation;Neurofibromatosis, familial spinal, Autosomal dominant;Neurofibromatosis, type 1, Autosomal dominant;Neurofibromatosis-Noonan syndrome, Autosomal dominant;Watson syndrome, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	YES	184739	Neurofibromatosis,_familial_spinal|not_specified|not_provided|Hereditary_cancer-predisposing_syndrome|Café-au-lait_macules_with_pulmonary_stenosis|Neurofibromatosis,_type_1|NF1-related_disorder|Neurofibromatosis-Noonan_syndrome	MONDO:MONDO:0008078,MedGen:C1834235,OMIM:162210,Orphanet:636|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008672,MedGen:C0553586,OMIM:193520,Orphanet:3444|MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636|MedGen:CN379171|MONDO:MONDO:0011035,MedGen:C2931482,OMIM:601321,Orphanet:638	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	6.599e-05	0	8.669e-05	0	0	0.0001	0	0	7.76e-05	12	154602	rs371581213	4.652e-05	4.652e-05	3.811e-05	5.5e-05	0.0003	3.727e-05	3.411e-05	6.092e-05	4.042e-05	0	0	0	0	0	0.0003	4.946e-05	3.311e-05	0.0001	4.602e-05	4.597e-05	2.57e-05	6.732e-05	0.0002	2.11e-05	1.528e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.02632	2324.33	42	chr17	31340609	.	G	A	2324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.518;DP=858;ExcessHet=0;FS=3.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=1.18;SOR=0.489	GT:AD:DP:GQ:PL	0/1:126,101:227:99:2338,0,3306	18	0	1	0
chr17	59064408	59064408	A	-	intronic	TRIM37	.	.	.	Mulibrey nanism, Autosomal recessive	3	160	18	1	44	64	0.0588235	.	.	.	329188	Mulibrey_nanism_syndrome|not_specified|not_provided	MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2284	.	0.3120	0.2552	0.3418	0.3266	0.2628	0.3084	0.3263	0.3404	0.0001921	5	26028	rs367700401	0.0985	0.1854	0.0961	0.1009	0.1579	0.0979	0.0977	0.1538	0.1521	0.0942	0.1579	0.1212	0.1240	0.1151	0.0828	0.0923	0.1014	0.1258	0.0021	0.0042	0.0020	0.0023	0.0026	0.0019	0.0018	0.0022	0.0021	0.0008	0	0.0013	0.0006	0.0006	0.0087	0.0035	0.0026	0.0021	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3566.62	108	chr17	59064407	.	TA	T	3566.62	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.07;DP=1511;ExcessHet=4.0268;FS=0;InbreedingCoeff=-0.2482;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=-0.125;SOR=0.682	GT:AD:DP:GQ:PL	0/1:119,17:138:81:81,0,2949	14	0	5	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	not_provided|Coxopodopatellar_syndrome	MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014243	2202	154602	rs149977669	0.0596	0.0681	0.0566	0.0623	0.0909	0.0591	0.0589	0.0887	0.0879	0.0854	0.0509	0.0943	0.0511	0.0502	0.0660	0.0547	0.0693	0.0909	0.1012	0.1026	0.1036	0.0984	0.1398	0.0997	0.0992	0.1302	0.1264	0.1162	0.0689	0.0887	0.1141	0.0554	0.0666	0.0846	0.1010	0.1055	0.1398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4729.39	9	chr17	61483613	.	A	AGTGTGTGT	4729.39	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.291;DP=510;ExcessHet=1.0583;FS=2.006;InbreedingCoeff=0.0654;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=24.01;ReadPosRankSum=0.729;SOR=1.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,2:8:5:.:.:370,171,188:.	13	0	6	0
chr17	61784346	61784346	C	T	exonic	BRIP1	.	nonsynonymous SNV	BRIP1:NM_032043:exon11:c.G1552A:p.V518I	Breast cancer, early-onset, Autosomal dominant;Fanconi anemia, complementation group J	5	1514	3	0	0	3	0.000989772	.	.	YES	185270	Fanconi_anemia_complementation_group_J|Familial_cancer_of_breast|not_provided|Hereditary_cancer-predisposing_syndrome|not_specified	MONDO:MONDO:0012187,MedGen:C1836860,OMIM:609054,Orphanet:84|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.127	0.017142626447	.	.	.	.	.	.	.	.	.	.	.	.	.	rs786201701	2.738e-06	2.736e-06	2.725e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.123e-05	2.533e-05	0	0	0	0	0	0.0003	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.536	0.10967	T	0.0	0.02946	B	0.0	0.01387	B	0.006571	0.31942	N	0.361089	0.999906	0.19694	N	-0.315	0.03579	N	-0.72	0.74265	T	-0.08	0.08187	N	0.026	0.00527	-1.0046	0.28577	T	0.081	0.32090	T	9	0.01914084	0.00424	T	0.017143	0.38716	T	0.127	0.34888	0.282	0.23801	0.379881503574	0.37595	0.09410078353605628	0.09342	0.129847023241	0.14643	0.301818549633	0.10672	T	0.086023	0.37632	T	-0.187705	0.22595	T	-0.507401	0.21583	T	0.0334268249571323	0.02541	T	0.483152	0.14651	T	0.028192192	0.02119	0.03221079	0.01923	0.028192192	0.02119	0.03221079	0.01923	-3.533	0.16897	T	0.16086567736523635	0.19654	0.063	0.01387	B	.;.	.;.	-0.938155	0.00864	0.030	0.53681989125507512	0.04987	0.04767	0.10476	N	AEFGBCI	0.032784	0.03768	N	-1.52167591810791	0.01707	0.07473236	-1.49297294354067	0.02401	0.1103896	0.999969947323272	0.48965	0.660377	0.49826	0	0.633563	0.54681	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.37	-7.76	0.01094	-0.130000	0.10477	-5.929000	0.01549	-0.153000	0.12021	0.251000	0.24859	0.000000	0.08366	0.978000	0.57271	0.0:0.5575:0.0:0.4425	15.334	0.73942	49	0.97662	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1811.33	33	chr17	61784346	.	C	T	1811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.924;DP=783;ExcessHet=0;FS=2.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.825;SOR=0.961	GT:AD:DP:GQ:PL	0/1:84,79:163:99:1825,0,2024	18	0	1	0
chr17	80095398	80095398	G	A	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_017950:exon18:c.G2968A:p.D990N	Ciliary dyskinesia, primary, 15	0	1515	7	0	0	7	0.00230491	.	.	.	272779	Primary_ciliary_dyskinesia_15|not_provided|CCDC40-related_disorder|Primary_ciliary_dyskinesia	MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.032371044787	0.0002	0.000798722	0.0016	0	0	0.0031	0.0035	0.0018	0.0034	0.0012	0.0013454	208	154602	rs200958035	0.0007	0.0007	0.0006	0.0008	0.0044	0.0006	0.0006	0.0039	0.0036	0	4.472e-05	0	0.0044	0.0033	0.0005	0.0004	0.0011	0.0011	0.0007	0.0007	0.0005	0.0009	0.0039	0.0006	0.0006	0.0026	0.0021	2.404e-05	0	0.0002	0	0.0039	0.0028	0	0.0007	0.0009	0.0017	0.12	0.27904	T	0.129	0.34837	T	0.088	0.25022	B	0.011	0.15521	B	.	.	.	.	0.993358	0.23727	N	0.795	0.19620	N	0.82	0.48142	T	-1.96	0.45404	N	0.162	0.17002	-1.0345	0.19014	T	0.101	0.37341	T	9	0.011015624	0.00243	T	0.032371	0.54212	D	0.087	0.25287	.	.	0.272639205421	0.26888	0.14218203363090426	0.14141	0.172173562126	0.19387	0.302955031395	0.10843	T	0.14964	0.48874	T	-0.643992	0.00079	T	-0.701505	0.05743	T	0.024312914011324	0.01184	T	0.593441	0.21910	T	0.0478802	0.08258	0.04951018	0.07582	0.039844368	0.05576	0.06108012	0.11737	-7.434	0.57144	T	0.3481705408692286	0.44556	0.103	0.18497	B	.	.	1.858462	0.23606	16.08	0.98623313527861522	0.43812	0.70216	0.34499	D	AEFDBI	0.077753	0.15672	N	-0.32280877953576	0.28284	1.558766	-0.234703838419107	0.30303	1.704961	0.00454933878732479	0.10609	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	5.38	3.27	0.36580	1.795000	0.38418	4.092000	0.41811	-0.123000	0.13640	0.976000	0.34826	0.998000	0.33993	0.001000	0.02609	0.0711:0.1259:0.803:0.0	11.674	0.50681	878	0.29785	.	.	.	.	.	.	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	1452.33	36	chr17	80095398	.	G	A	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=799;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.789;SOR=0.624	GT:AD:DP:GQ:PL	0/1:89,63:152:99:1466,0,1988	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	1/1:0,189:189:99:6000,567,0	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	1/1:0,127:127:99:3998,381,0	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	0/1:41,66:107:99:1736,0,1001	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	0/1:81,92:173:99:2280,0,1909	7	5	7	0
chr18	46477188	46477188	C	T	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145472:exon24:c.G3340A:p.G1114R	Deafness, autosomal recessive 77, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	176685	not_specified|LOXHD1-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.011	0.0506641312913	.	0.000798722	0.0018	0.0005	0.0024	0	0	0.0039	0.0041	0.0004	0.0004722	73	154602	rs142931455	0.0014	0.0012	0.0014	0.0014	0.0093	0.0013	0.0013	0.0070	0.0062	0.0008	0.0014	0.0145	0	2.041e-05	0.0093	0.0009	0.0033	0.0003	0.0011	0.0011	0.0012	0.0011	0.0011	0.0010	0.0010	0.0008	0.0007	0.0006	0	0.0011	0.0156	0	0	0.0204	0.0009	0.0052	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	0.51	0.02898	N	0.216	0.24135	-1.0099	0.26949	T	0.057	0.24055	T	6	0.0057053566	0.00127	T	0.050664	0.64337	D	0.011	0.01250	0.429	0.47680	0.107399877778	0.10242	.	.	.	.	.	.	.	.	.	.	-0.489759	0.00652	T	-0.516814	0.20618	T	0.0173723648652726	0.00475	T	0.530647	0.17608	T	.	.	.	.	.	.	.	.	-3.347	0.14351	T	.	.	0.186	0.40164	B	.	.	0.621277	0.09899	6.657	0.87497148219354581	0.17269	0.04418	0.10009	N	AEFBI	0.068651	0.13552	N	-0.451799526089565	0.23679	1.273274	-0.589853790645029	0.19757	1.061453	0.0759143956702253	0.15711	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.31	1.34	0.21018	0.008000	0.13095	-0.479000	0.08931	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.173:0.5481:0.0:0.2789	3.675	0.07822	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014388	0.042553	0.000000	0.009009	0.000000	0.000000	0.011628	0.011905	0.02632	1813.33	35	chr18	46477188	.	C	T	1813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.26;DP=745;ExcessHet=0;FS=2.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=1.18;SOR=0.487	GT:AD:DP:GQ:PL	0/1:43,73:116:99:1827,0,1007	18	0	1	0
chr18	59454846	59454846	C	T	intronic	CCBE1	.	.	.	Hennekam lymphangiectasia-lymphedema syndrome 1, Autosomal recessive	0	1518	4	0	0	4	0.00131579	0.8914	0.516	.	507407	not_specified|not_provided|Hennekam_lymphangiectasia-lymphedema_syndrome_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510,Orphanet:2136	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	9.615e-05	0	0	0	0.0002	0	0	0.0001229	19	154602	rs150596993	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	0.0001	4.472e-05	0.0002	2.519e-05	0	0.0005	0.0002	0.0002	0.0001	8.531e-05	8.529e-05	8.991e-05	8.051e-05	0.0001	4.951e-05	3.958e-05	7.907e-05	5.993e-05	4.809e-05	0	0	0	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1583.33	34	chr18	59454846	.	C	T	1583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.85;SOR=0.702	GT:AD:DP:GQ:PL	0/1:102,70:172:99:1597,0,2389	18	0	1	0
chr19	17826670	17826670	A	G	UTR3	JAK3	NM_000215:c.*73T>C	.	.	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	2	1479	39	2	0	43	0.0143286	.	.	.	880109	T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_provided	MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00199681	.	.	.	.	.	.	.	.	0.0016817	260	154602	rs149873298	0.0099	0.0099	0.0101	0.0097	0.0117	0.0098	0.0097	0.0115	0.0114	0.0016	0.0014	0.0089	0.0001	0.0040	0.0117	0.0116	0.0101	0.0046	0.0059	0.0059	0.0064	0.0054	0.0102	0.0056	0.0055	0.0096	0.0093	0.0020	0	0.0025	0.0092	0.0002	0.0021	0.0102	0.0102	0.0062	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	667.83	20	chr19	17826670	.	A	G	667.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.31;DP=463;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.811;SOR=0.789	GT:AD:DP:GQ:PL	0/1:13,11:24:99:321,0,388	17	0	2	0
chr19	49182608	49182608	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon6:c.G232A:p.A78T,TRPM4:NM_001321281:exon9:c.G949A:p.A317T,TRPM4:NM_001321283:exon9:c.G772A:p.A258T,TRPM4:NM_001195227:exon11:c.G1294A:p.A432T,TRPM4:NM_017636:exon11:c.G1294A:p.A432T	Progressive familial heart block, type IB, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	44160	Brugada_syndrome|not_specified|Progressive_familial_heart_block_type_IB|not_provided|Progressive_familial_heart_block,_type_1A|Cardiovascular_phenotype	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN169374|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:C3661900|MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.936	0.441204065499	0.0007	0.000399361	0.0005	0	0.0016	0	0	0.0006	0.0022	0.0002	0.0004981	77	154602	rs201907325	0.0003	0.0003	0.0003	0.0003	0.0165	0.0003	0.0003	0.0138	0.0128	0.0004	0.0011	0.0002	0	3.765e-05	0.0165	0.0002	0.0011	0.0003	0.0005	0.0005	0.0005	0.0005	0.0022	0.0004	0.0004	0.0016	0.0014	4.812e-05	0	0.0022	0.0003	0	0	0.0306	0.0003	0.0024	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.994571	0.46054	D	3.75	0.95014	H	-3.65	0.95179	D	-3.73	0.70920	D	0.931	0.93605	1.061	0.98362	D	0.917	0.97237	D	10	0.57386726	0.65469	D	0.441204	0.94168	D	0.936	0.98563	.	.	0.969639277537	0.96931	0.7712721926761618	0.77077	0.951829843149	0.72665	0.615200996399	0.55051	T	0.87695	0.97389	D	0.229112	0.76638	D	0.505886	0.94742	D	0.22107050864626	0.21517	T	0.874313	0.59062	D	0.73118526	0.79790	0.6919338	0.81870	0.79244655	0.83428	0.6287725	0.78351	-12.115	0.86430	D	.	.	0.588	0.70414	P	.;.	.;.	5.223865	0.87673	29.3	0.99905667910186702	0.97651	0.97328	0.74058	D	AEFDBI	0.771559	0.70615	D	0.662261753085294	0.77164	6.622359	0.584479128384237	0.73826	6.034571	0.996793260373016	0.35014	0.706548	0.73137	0	0.547309	0.14657	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.18	4.18	0.48473	5.062000	0.64156	11.517000	0.93029	0.652000	0.53365	0.998000	0.41325	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	13.848	0.62976	724	0.55085	.;.	.	.	.	.	.	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	0.010574	0.005051	0.009511	0.023392	0.000000	0.034483	0.003049	0.003788	0.02632	1991.33	37	chr19	49182608	.	G	A	1991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=892;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.007;SOR=0.775	GT:AD:DP:GQ:PL	0/1:77,76:153:99:2005,0,1842	18	0	1	0
chr19	49188641	49188641	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon8:c.G682A:p.G228S,TRPM4:NM_001321281:exon11:c.G1399A:p.G467S,TRPM4:NM_001321283:exon11:c.G1222A:p.G408S,TRPM4:NM_001321282:exon12:c.G136A:p.G46S,TRPM4:NM_001195227:exon13:c.G1744A:p.G582S,TRPM4:NM_017636:exon13:c.G1744A:p.G582S	Progressive familial heart block, type IB, Autosomal dominant	0	1512	10	0	0	10	0.00329598	0.0689	0.292	.	44159	Brugada_syndrome|Progressive_familial_heart_block_type_IB|Progressive_familial_heart_block,_type_1A|not_specified|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.346	0.0587369708908	0.0007	0.000399361	0.0005	0	0.0016	0	0	0.0006	0.0022	0.0002	0.0005239	81	154602	rs172149856	0.0004	0.0004	0.0003	0.0004	0.0187	0.0003	0.0003	0.0159	0.0148	0.0005	0.0011	0.0002	0	3.744e-05	0.0187	0.0002	0.0012	0.0004	0.0005	0.0005	0.0005	0.0005	0.0022	0.0004	0.0004	0.0016	0.0014	4.812e-05	0	0.0022	0.0003	0.0002	0	0.0272	0.0004	0.0024	0.0004	0.54	0.06802	T	0.198	0.27767	T	0.031	0.27048	B	0.022	0.32014	B	0.008555	0.30785	N	0.305518	0.873662	0.30748	N	2.26	0.64354	M	-0.69	0.72678	T	-0.92	0.24676	N	0.736	0.73645	-0.5215	0.67858	T	0.278	0.64936	T	9	0.122550696	0.23251	T	0.058737	0.67421	D	0.346	0.66769	.	.	0.845382614911	0.84390	0.5028328119573782	0.50205	0.323987150426	0.34555	0.693807482719	0.66253	T	0.157972	0.50080	T	-0.0767316	0.40243	T	0.0665631	0.74681	D	0.0210352330281828	0.00804	T	0.79912	0.44420	T	0.12536728	0.29390	0.08490786	0.19568	0.13705452	0.31748	0.086858	0.20151	-9.277	0.69463	D	.	.	0.138	0.36436	B	.;.	.;.	2.512285	0.32452	19.05	0.98112427699294635	0.38367	0.84878	0.43971	D	AEFDBCI	0.483744	0.52406	N	-0.0465788964203101	0.39754	2.349606	0.0219845822298943	0.40738	2.436016	0.0458505707760079	0.14668	0.615465	0.37627	0	0.547309	0.14657	0	0.491614	0.08109	1	0.655142	0.61905	0	.	.	4.37	3.31	0.37025	4.467000	0.59889	5.496000	0.48760	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.0901:0.0:0.9099:0.0	11.838	0.51611	742	0.52873	.;.	.	.	.	.	.	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	0.011078	0.005051	0.009511	0.023392	0.000000	0.043103	0.003049	0.003788	0.02632	1352.33	44	chr19	49188641	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.847;DP=802;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.787;SOR=0.54	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1366,0,1552	18	0	1	0
chr19	49862520	49862520	-	G	intronic	PNKP	.	.	.	Ataxia-oculomotor apraxia 4, Autosomal recessive;Microcephaly, seizures, and developmental delay, Autosomal recessive	0	1482	39	1	0	41	0.0136439	.	.	.	203597	not_specified|Developmental_and_epileptic_encephalopathy,_12|not_provided	MedGen:CN169374|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0114	0.00658946	0.0153	0.0028	0.0261	0	0.0041	0.0208	0.0169	0.0074	0.0022284	58	26028	rs3739200	0.0123	0.0123	0.0122	0.0124	0.0391	0.0121	0.0121	0.0349	0.0333	0.0027	0.0180	0.0311	0	0.0016	0.0391	0.0131	0.0139	0.0060	0.0106	0.0106	0.0109	0.0102	0.0286	0.0101	0.0100	0.0264	0.0255	0.0023	0	0.0286	0.0268	0	0.0006	0.0136	0.0132	0.0199	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1743.29	35	chr19	49862520	.	A	AG	1743.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.322;DP=851;ExcessHet=0;FS=2.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.045;SOR=0.491	GT:AD:DP:GQ:PL	0/1:104,72:176:99:1757,0,2775	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	0/1:73,63:136:99:1758,0,1981	11	1	7	0
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	65	466	590	401	0	1392	0.598967	.	.	.	334414	not_provided|Spermatogenic_Failure	MedGen:C3661900|MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	9538.71	71	chr19	57231146	.	G	GC	9538.71	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.183;DP=1031;ExcessHet=0.233;FS=0.547;InbreedingCoeff=0.229;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-0.241;SOR=0.744	GT:AD:DP:GQ:PL	0/1:25,22:47:99:562,0,675	8	4	7	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	0/1:137,126:263:99:2909,0,3350	12	3	4	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	0/1:6,3:9:98:98,0,217	8	5	5	1
chr21	46411753	46411753	G	A	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.G5326A:p.V1776I,PCNT:NM_006031:exon28:c.G5680A:p.V1894I	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	430493	not_provided|PCNT-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	0.0132763824901	0.0004	0.000399361	0.0001	0.0009	0.0002	0.0001	0	5.239e-05	0	6.414e-05	0.0001682	26	154602	rs113208348	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0013	0.0011	0.0016	4.476e-05	0	7.559e-05	0	0.0005	8.816e-05	0.0003	8.117e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0005	0.0004	0.0006	0	0	0	0	0	0	8.823e-05	0	0	1.0	0.00964	T	0.912	0.02943	T	0.265	0.31634	B	0.005	0.11217	B	0.385857	0.13324	N	0.554792	1	0.08975	N	-0.185	0.04235	N	4.85	0.01470	T	0.25	0.04456	N	0.041	0.01421	-0.9033	0.47639	T	0.003	0.00832	T	10	0.009223193	0.00208	T	0.013276	0.32560	T	0.052	0.14661	.	.	0.141422826196	0.13715	0.03651092333601767	0.03598	0.0666021734237	0.07428	0.300904899836	0.10536	T	0.019598	0.15585	T	-0.672019	0.00053	T	-0.813499	0.01588	T	0.0149154487239627	0.00317	T	0.580842	0.21027	T	0.017833749	0.00307	0.021228362	0.00182	0.017833749	0.00307	0.021228362	0.00182	-5.878	0.45247	T	.	.	0.113	0.22208	B	.	.	-1.875660	0.00133	0.002	0.48664048736090793	0.04080	0.00402	0.02007	N	AEFDBI	0.017089	0.00426	N	-1.51368906748782	0.01759	0.07704347	-1.62859409823699	0.01490	0.06746222	0.999999713698455	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.8	-9.79	0.00411	-5.073000	0.00181	-2.279000	0.03958	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1567:0.3446:0.4987:0.0	10.358	0.43160	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2733.33	33	chr21	46411753	.	G	A	2733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=886;ExcessHet=0;FS=2.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.33;SOR=0.89	GT:AD:DP:GQ:PL	0/1:127,109:236:99:2747,0,3078	18	0	1	0
chr22	37723190	37723190	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.G634A:p.G212S	Deafness, autosomal recessive 28, Autosomal recessive	2	1500	18	2	0	22	0.00727995	.	.	.	271877	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_28	MedGen:C3661900|MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00666469321941	0.0008	0.000199681	0.0014	0.0002	0.0013	0	0	0.0018	0.0047	0.0013	0.001216	188	154602	rs201794404	0.0011	0.0011	0.0011	0.0012	0.0203	0.0011	0.0011	0.0173	0.0162	0.0005	0.0016	0.0090	2.519e-05	1.875e-05	0.0203	0.0009	0.0020	0.0011	0.0012	0.0012	0.0012	0.0011	0.0023	0.0010	0.0010	0.0017	0.0015	0.0004	0	0.0023	0.0098	0	0	0.0136	0.0012	0.0028	0.0008	0.017	0.51248	D	0.838	0.03631	T	0.023	0.18885	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	2.18	0.18875	T	-0.53	0.16393	N	0.066	0.03841	-1.0002	0.29860	T	0.029	0.12234	T	9	0.0058609545	0.00131	T	0.006665	0.17585	T	0.014	0.01968	.	.	0.249502417897	0.24576	0.06976947260766353	0.06914	0.133072040946	0.14984	0.321400910616	0.13634	T	0.036927	0.24287	T	-0.581121	0.00190	T	-0.626531	0.10678	T	0.0175898544922838	0.00492	T	0.50365	0.15850	T	0.04485732	0.07242	0.038555335	0.03751	0.04166958	0.06178	0.05428863	0.09308	-3.59	0.17713	T	.	.	0.090	0.12797	B	.;.	.;.	0.726326	0.10952	7.620	0.98341772258620186	0.40447	0.00971	0.03712	N	AEFDBI	0.034209	0.04198	N	-0.960232943589384	0.09464	0.4480437	-0.984591464499538	0.10131	0.5083148	0.110749369659039	0.16641	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.74	0.962	0.18763	0.258000	0.18156	-0.120000	0.11732	-0.114000	0.14653	0.018000	0.19461	0.000000	0.08366	0.001000	0.02609	0.2551:0.0:0.2654:0.4794	2.461	0.04263	910	0.22284	.;.	.	.	.	.	.	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	0.014617	0.005051	0.032609	0.011696	0.100000	0.008621	0.003067	0.003788	0.02632	1557.33	34	chr22	37723190	.	G	A	1557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=755;ExcessHet=0;FS=2.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.151;SOR=1.015	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1571,0,1174	18	0	1	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E	.	425	173	454	470	0	1394	0.801149	.	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.568983	0.565657	0.542120	0.570175	0.550000	0.517241	0.573171	0.662879	0.5526	42702.2	207	chr22	43946236	.	A	G	42702.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-1.131;DP=2664;ExcessHet=3.6106;FS=0;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=-0.233;SOR=0.682	GT:AD:DP:GQ:PL	0/1:84,74:158:99:1708,0,2010	3	5	11	0
chr22	50579775	50579775	T	C	exonic	CHKB	.	nonsynonymous SNV	CHKB:NM_005198:exon9:c.A983G:p.Q328R	Muscular dystrophy, congenital, megaconial type, Autosomal recessive	1	1479	40	2	0	44	0.0146569	.	.	.	134179	not_provided|Megaconial_type_congenital_muscular_dystrophy|not_specified	MedGen:C3661900|MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	0.00535585406914	0.0046	0.00199681	0.0041	0.0006	0.0030	0	0.0005	0.0051	0.0088	0.0061	0.0039974	618	154602	rs141381896	0.0049	0.0049	0.0047	0.0050	0.0088	0.0048	0.0047	0.0069	0.0062	0.0010	0.0031	0.0026	7.557e-05	0.0014	0.0088	0.0053	0.0054	0.0062	0.0033	0.0034	0.0036	0.0031	0.0066	0.0031	0.0030	0.0049	0.0047	0.0008	0	0.0025	0.0026	0.0002	0.0012	0.0204	0.0054	0.0052	0.0066	0.526	0.07116	T	0.526	0.10245	T	0.0	0.02946	B	0.0	0.01387	B	0.393601	0.04492	N	1.372900	1	0.08975	N	1.3	0.32576	L	0.43	0.56772	T	-0.62	0.18248	N	0.139	0.13769	-1.0399	0.17343	T	0.071	0.28806	T	10	0.0036141276	0.00066	T	0.005356	0.13710	T	0.042	0.11227	.	.	0.293147016451	0.28931	0.21814341777740848	0.21730	.	.	0.189679294825	0.00219	T	0.100072	0.40551	T	-0.63138	0.00094	T	-0.676959	0.07171	T	0.000577618257265074	0.00005	T	0.113289	0.00862	T	0.09625146	0.22669	0.10601321	0.25496	0.13090196	0.30530	0.094691224	0.22425	-5.268	0.39625	T	.	.	0.060	0.00919	B	.	.	0.435510	0.08059	4.781	0.69638809155130055	0.09037	0.10516	0.16001	N	AEFDBI	0.137658	0.25871	N	-1.16186174551854	0.05588	0.2551048	-1.15432138866421	0.06691	0.3229024	0.999999684092136	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.44	-3.32	0.04663	-0.178000	0.09775	-1.307000	0.05758	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.1536:0.5007:0.3456	8.625	0.33045	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017098	0.020202	0.013587	0.010490	0.050000	0.017241	0.030488	0.011364	0.05263	2925.83	40	chr22	50579775	.	T	C	2925.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.009;DP=954;ExcessHet=0.119;FS=4.288;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.204;SOR=0.949	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1431,0,1461	17	0	2	0
chrX	6533918	6533918	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G388C:p.V130L	.	544	964	11	0	3	14	0.00567303	.	.	.	1318923	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.00113823230889	.	.	4.171e-05	0	0.0001	0.0002	0	2.631e-05	0	0	0.0001537	4	26028	rs780354662	0.0006	0.0027	0.0008	0.0001	0.0045	0.0006	0.0005	0.0039	0.0036	0.0002	0.0045	0.0008	0.0003	0.0010	0.0008	0.0005	0.0009	0.0004	0.0027	0.0049	0.0035	0	0.0095	0.0024	0.0023	0.0076	0.0070	0.0020	0.0101	0.0095	0.0014	0.0007	0.0011	0	0.0023	0.0047	0.0012	0.49	0.07994	T	0.409	0.14588	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.23600	N	0.755	0.19153	N	2.2	0.18570	T	-1.11	0.28703	N	0.043	0.01577	-0.9677	0.37673	T	0.018	0.07423	T	8	0.0094252825	0.00213	T	0.001138	0.01410	T	0.007	0.00512	0.176	0.08257	0.043077524339	0.03247	0.0029763199075203426	0.00277	0.262585590398	0.28824	0.465717852116	0.34094	T	0.005635	0.05080	T	-0.812437	0.00006	T	-1.0337	0.00085	T	0.006969164911672	0.00079	T	0.438156	0.12052	T	0.095408544	0.22454	0.074618824	0.16342	0.095408544	0.22454	0.074618824	0.16342	-7.177	0.55316	T	.	.	0.159	0.35204	B	.	.	-0.490809	0.01897	0.157	0.28057428731072176	0.01423	0.00230	0.01288	N	AEFI	.	.	.	.	.	.	.	.	.	1.32790682951601E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.896000	0.01696	-1.954000	0.04440	-1.658000	0.00817	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.624	0.22011	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	419.59	161	chrX	6533918	.	C	G	419.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.551;DP=1362;ExcessHet=0.119;FS=93.078;InbreedingCoeff=-0.0707;MLEAC=2;MLEAF=0.056;MQ=34.93;MQRankSum=-1.239;QD=4.61;ReadPosRankSum=-2.827;SOR=5.781	GT:AD:DP:GQ:PL	0/1:12,8:20:99:275,0,305	16	0	2	1
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F,G6PD:NM_001042351:exon6:c.C563T:p.S188F,G6PD:NM_001360016:exon6:c.C563T:p.S188F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	1	1326	123	72	0	267	0.0914697	.	.	YES	25407	not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CAGLIARI|G6PD_MEDITERRANEAN|G6PD_SASSARI|G6PD_deficiency|Inborn_genetic_diseases|See_cases|G6PD_deficient_hemolytic_anemia|G6PD-related_disorder|Hemolytic_anemia,_G6PD_deficient_(favism)	MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|.|MONDO:MONDO:0005775,MedGen:C2939465|MeSH:D030342,MedGen:C0950123|.|.|.|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.811	.	0.0007	0.000794702	0.0027	0.0004	0.0006	0	0	0.0011	0.0112	0.0160	0.0024838	384	154602	rs5030868	0.0015	0.0015	0.0011	0.0023	0.0435	0.0014	0.0014	0.0383	0.0363	0.0003	2.842e-05	0.0055	0	0	0.0435	0.0002	0.0032	0.0189	0.0007	0.0008	0.0006	0.0011	0.0149	0.0006	0.0005	0.0113	0.0100	0.0001	0	0	0.0060	0	0	0.0138	0.0002	0.0046	0.0149	0.017	0.52492	D	0.008	0.67890	D	0.022	0.18677	B	0.039	0.23607	B	0.000101	0.50451	D	0.177639	1	0.81001	D	3.42	0.91902	M	-4.87	0.98279	D	-4.22	0.75935	D	0.562	0.70615	0.957	0.96492	D	0.933	0.97805	D	10	0.012398928	0.00267	T	.	.	.	0.811	0.93892	.	.	0.989763325404	0.98964	0.927394258905308	0.92717	0.202134561341	0.22635	0.361571013927	0.19615	T	0.958441	0.99448	D	0.148364	0.69115	D	0.453964	0.93676	D	0.128705447749552	0.15261	T	0.953605	0.82399	D	0.90304965	0.91658	0.8944889	0.94585	0.9519563	0.96465	0.8714105	0.92964	-11.526	0.83968	D	0.6452008465600814	0.71653	0.361	0.69938	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.714215	0.53042	23.3	0.99560193252273865	0.71707	0.94225	0.60494	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	5.542000	0.66927	9.812000	0.81753	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.929	0.79431	80	0.96670	Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;.;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025694	0.000000	0.007421	0.075099	0.000000	0.023529	0.013274	0.047368	0.1316	6506.33	38	chrX	154534419	.	G	A	6506.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.19;DP=872;ExcessHet=0;FS=0.472;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=21.54;ReadPosRankSum=0.8;SOR=0.732	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2477,234,0	16	2	1	0