Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	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.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	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.1	CADD_raw_rankscore	CADD_phred.1	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.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	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.1	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	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES970	WT	HH	HZ	NC
chr1	2303394	2303394	G	A	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon3:c.G1205A:p.R402Q,	Shprintzen-Goldberg syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	390988	Shprintzen-Goldberg_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0008426,MedGen:C1321551,OMIM:182212,Orphanet:2462|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.805	P	0.000	D	0.983	D	1.87	L	-3.98	D	0.925	D	0.888	D	0.481	4.908	28.3	3.95	1.928	8.478	15.377	0.677	0.658545485986	.	0.000199681	2.487e-05	0	0	0	0	1.512e-05	0	0.0001	2.59e-05	4	154602	rs557289756	1.576e-05	1.573e-05	1.091e-05	2.065e-05	0.0009	1.049e-05	8.76e-06	0.0003	0.0002	0	0	0	5.039e-05	0	0.0009	5.4e-06	1.657e-05	0.0001	2.627e-05	2.625e-05	5.141e-05	0	0.0004	8.14e-06	5.14e-06	7.315e-05	3.038e-05	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0004	0.047	0.40319	D	0.18	0.29442	T	0.999	0.77913	D	0.805	0.58399	P	0.000001	0.84330	D	0.000000	0.98324	0.39990	D	2.255	0.64187	M	-3.98	0.96277	D	-1.23	0.31170	N	0.692	0.69737	0.925	0.96033	D	0.888	0.96278	D	10	0.70547736	0.72710	D	0.658545	0.97126	D	0.677	0.88109	0.442	0.49811	0.81625183416	0.81452	0.48179075392365	0.48099	0.803511162312	0.66361	0.75793337822	0.75622	T	0.443408	0.78721	T	0.0905473	0.63251	D	0.0738164	0.75166	D	0.902675330638885	0.55569	D	0.912709	0.68911	D	0.12546964	0.29413	0.12544534	0.30226	0.12546964	0.29413	0.12544534	0.30225	-3.685	0.19097	T	.	.	0.179	0.38994	B	.	.	4.034934	0.59692	24.1	0.9992619312334966	0.99103	0.98108	0.79665	D	AEFBCI	0.877798	0.80266	D	0.568856337117591	0.71238	5.620493	0.530895962633333	0.70079	5.452802	0.999999994331632	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.95	3.95	0.44952	8.589000	0.90602	7.342000	0.58253	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	15.377	0.74339	940	0.13648	.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1237.98	34	chr1	2303394	.	G	A	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=804;ExcessHet=0.0000;FS=0.865;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=0.931;SOR=0.569	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1252,0,1075	20	0	1	0
chr1	6468202	6468202	G	A	exonic	PLEKHG5	.	synonymous SNV	PLEKHG5:NM_001042664:exon20:c.C2634T:p.S878S	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	282874	not_provided|Inborn_genetic_diseases|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4|Charcot-Marie-Tooth_disease_recessive_intermediate_C	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580|MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0003	0.0004	0.0010	0	0	0.0002	0	0.0008	0.0002652	41	154602	rs367560509	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0008	0.0007	0.0002	0.0011	0.0004	0	1.959e-05	0.0016	0.0001	0.0005	0.0009	0.0002	0.0002	6.423e-05	0.0004	0.0014	0.0002	0.0002	0.0007	0.0005	0.0001	0	0.0010	0.0003	0	0.0002	0.0034	4.41e-05	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	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	1	0.04762	2004.11	34	chr1	6468202	.	G	A	2004.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.000e-02;DP=882;ExcessHet=0.1072;FS=3.767;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=1.32;SOR=0.449	GT:AD:DP:GQ:PL	0/1:44,39:83:99:998,0,1168	19	0	2	0
chr1	11046894	11046894	G	A	exonic	MASP2	.	synonymous SNV	MASP2:NM_006610:exon2:c.C231T:p.V77V	MASP2 deficiency, Autosomal recessive	.	1	1500	21	0	0	21	0.00695134	.	.	276061	not_provided|Immunodeficiency_due_to_MASP-2_deficiency	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000399361	0.0009	0	0.0018	0	0	0.0012	0.0049	0.0009	0.0004981	77	154602	rs140239262	0.0006	0.0006	0.0007	0.0006	0.0193	0.0006	0.0006	0.0164	0.0153	0.0008	0.0015	7.912e-05	0	0	0.0193	0.0005	0.0011	0.0006	0.0006	0.0006	0.0006	0.0006	0.0023	0.0005	0.0005	0.0017	0.0015	0.0002	0.0011	0.0023	0.0003	0	0	0.0170	0.0006	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	789.98	34	chr1	11046894	.	G	A	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.756;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-4.620e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:31,30:61:99:804,0,751	20	0	1	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	1310279	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	34786.27	34	chr1	37708311	.	TTTC	T	34786.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.170e-01;DP=2206;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=19.29;ReadPosRankSum=0.285;SOR=0.689	GT:AD:DP:GQ:PL	0/1:78,93:171:99:3657,0,2919	10	0	11	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	Cardiovascular_phenotype|Familial_hypercholesterolemia|not_provided|Hypobetalipoproteinemia|Hypercholesterolemia,_familial,_1|not_specified|Hypercholesterolemia,_autosomal_dominant,_3	MedGen:CN230736|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776	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	1	1	1.0	116023.81	140	chr1	55057360	.	A	G	116023.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.17;DP=3833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=31.18;ReadPosRankSum=0.146;SOR=0.726	GT:AD:DP:GQ:PL	1/1:2,150:152:99:4774,406,0	0	21	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	10989.78	44	chr1	89054646	.	GAAAAAC	G	10989.78	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.571;DP=815;ExcessHet=4.5793;FS=0.576;InbreedingCoeff=-0.2115;MLEAC=16;MLEAF=0.381;MQ=59.79;MQRankSum=0.00;QD=20.24;ReadPosRankSum=0.349;SOR=0.627	GT:AD:DP:GQ:PL	0/1:10,17:27:99:683,0,368	7	2	12	0
chr1	94055212	94055212	G	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon16:c.C2486T:p.T829M,	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	864870	not_provided|Retinal_dystrophy|ABCA4-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN239167	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.007	B	0.017	B	0.067	N	1.000	N	-0.09	N	-3.47	D	-0.599	T	0.374	T	0.666	0.930	8.790	3.12	0.387	5.350	8.965	0.471	0.194180348299	0.0002	.	0.0001	0.0003	8.643e-05	0.0003	0	8.991e-05	0	0.0002	0.0001423	22	154602	rs139250920	0.0001	0.0001	0.0001	0.0001	0.0094	0.0001	0.0001	0.0074	0.0067	0.0004	6.708e-05	7.652e-05	0.0003	0	0.0094	7.464e-05	0.0001	8.115e-05	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	6.545e-05	0	0.0004	0	0	0.0002	0.0005	0	0.44	0.09264	T	0.314	0.19480	T	0.007	0.14184	B	0.017	0.18140	B	0.066672	0.21794	N	0.517808	0.992848	0.26009	N	-0.055	0.04927	N	-3.47	0.94546	D	1.58	0.00668	N	0.704	0.70790	-0.5993	0.64846	T	0.374	0.73257	T	10	0.07959357	0.12823	T	0.19418	0.86348	D	0.471	0.76487	.	.	0.834247670492	0.83267	0.4336615806288697	0.43283	0.0883837268346	0.09985	0.19406054914	0.00305	T	0.376374	0.73978	T	-0.0801636	0.39687	T	0.0290421	0.72216	D	0.0170043783631065	0.00449	T	0.715628	0.38584	T	0.019819403	0.00521	0.04557717	0.06162	0.02232489	0.00887	0.045260582	0.06049	-0.032	0.00361	T	.	.	0.050	0.01810	B	.;.	.;.	1.981107	0.25168	16.66	0.53777233123094659	0.05006	0.23018	0.21939	N	AEFBI	0.070139	0.13913	N	-0.594485920922465	0.19110	0.9976686	-0.406601384162508	0.24803	1.360294	0.999997728156487	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.41	3.12	0.34986	5.338000	0.65718	3.590000	0.39186	-0.130000	0.13190	1.000000	0.71638	0.992000	0.31684	0.907000	0.44265	0.844:0.0:0.156:0.0	8.965	0.35033	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1671.98	33	chr1	94055212	.	G	A	1671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-4.230e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/1:59,66:125:99:1686,0,1315	20	0	1	0
chr1	97883329	97883329	A	G	exonic	DPYD	.	nonsynonymous SNV	DPYD:NM_000110:exon2:c.T85C:p.C29R	Dihydropyrimidine dehydrogenase deficiency, Autosomal recessive;5-fluorouracil toxicity, Autosomal recessive	.	20	895	480	127	0	734	0.290808	.	.	15474	not_specified|not_provided|fluorouracil_response_-_Toxicity|capecitabine_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency	MedGen:CN169374|MedGen:C3661900|.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:1675	reviewed_by_expert_panel	drug_response	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062677	969	154602	rs1801265	0.2213	0.2213	0.2203	0.2223	0.4125	0.2207	0.2204	0.4068	0.4044	0.4125	0.2142	0.1152	0.0516	0.2878	0.2345	0.2186	0.2229	0.2528	0.2736	0.2738	0.2743	0.2728	0.4040	0.2714	0.2704	0.3989	0.3968	0.4040	0.2204	0.2476	0.1107	0.0719	0.2823	0.2211	0.2254	0.2540	0.2470	.	.	.	0.427	0.13832	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.19325	.	.	.	.	.	.	.	0.0027006269	0.00042	T	.	.	.	.	.	.	.	.	.	0.6104852986908456	0.60980	.	.	.	.	.	0.058699	0.30914	T	.	.	.	.	.	.	.	.	.	0.0231377	0.00135	T	.	.	.	.	.	.	.	.	-5.598	0.42774	T	0.05041581781460596	0.00872	0.043	0.00109	B	.;.	.;.	2.033307	0.25845	16.91	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647000	0.36876	2.715000	0.34266	-0.103000	0.15852	0.321000	0.25511	0.371000	0.24568	0.770000	0.36519	.	.	.	928	0.17405	.;.	DPYD|DPYD	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0.2381	8750.78	67	chr1	97883329	.	A	G	8750.78	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.184;DP=1031;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-7.200e-02;SOR=0.687	GT:AD:DP:GQ:PL	1/1:0,69:69:99:1943,207,0	13	2	6	0
chr1	100206310	100206310	-	A	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	0	104	85	27	10	149	0.400576	.	.	190799	not_provided|Maple_syrup_urine_disease	MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226	0.0424	0.0181	0.0374	0.0145	0.0191	0.0287	0.0255	0.021261	3287	154602	rs566272048	0.0260	0.0567	0.0266	0.0253	0.0502	0.0257	0.0256	0.0479	0.0470	0.0502	0.0193	0.0291	0.0282	0.0179	0.0337	0.0260	0.0280	0.0217	0.0008	0.0011	0.0008	0.0008	0.0007	0.0007	0.0006	0.0005	0.0005	0.0006	0	0.0007	0.0047	0.0002	0.0010	0	0.0007	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	9643.85	33	chr1	100206310	.	T	A,TA	9643.85	.	AC=11,5;AF=0.262,0.119;AN=42;BaseQRankSum=-5.020e-01;DP=1443;ExcessHet=4.5793;FS=1.104;InbreedingCoeff=-0.1912;MLEAC=11,4;MLEAF=0.262,0.095;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-5.090e-01;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:3,33,17:56:99:.:.:1350,345,382,767,0,808	7	1	8	0
chr1	108904128	108904128	G	A	exonic	GPSM2	.	nonsynonymous SNV	GPSM2:NM_001321038:exon10:c.G1066A:p.G356R	Chudley-McCullough syndrome, Autosomal recessive	.	2	1455	60	5	0	70	0.0234899	.	.	54729	not_specified|Chudley-McCullough_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0011411,MedGen:C1858695,OMIM:604213,Orphanet:314597|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.994	D	0.807	P	0.000	D	1.000	D	2.22	M	-1.0	T	-0.063	T	0.456	T	0.453	3.800	19.29	5.51	2.580	9.442	17.598	0.470	.	0.0238	0.0117812	0.0221	0.0061	0.0218	0	0.0243	0.0315	0.0213	0.0050	0.0226	3494	154602	rs61754640	0.0290	0.0299	0.0294	0.0286	0.0364	0.0288	0.0287	0.0332	0.0331	0.0049	0.0200	0.0191	0	0.0249	0.0364	0.0335	0.0262	0.0064	0.0223	0.0223	0.0235	0.0209	0.0338	0.0216	0.0214	0.0326	0.0322	0.0058	0.0636	0.0220	0.0193	0	0.0261	0.0340	0.0338	0.0303	0.0077	0.02	0.49613	D	0.007	0.69154	D	0.994	0.66517	D	0.807	0.58472	P	0.000001	0.84330	D	0.056584	1	0.81001	D	2.39	0.68882	M	-1.0	0.76037	T	-6.41	0.91226	D	0.314	0.71055	-0.0626	0.80938	T	0.456	0.78825	T	10	0.009292185	0.00210	T	.	.	.	0.470	0.76421	0.286	0.24440	.	.	0.5007767827409718	0.49998	0.910207131385	0.71029	0.783422529697	0.79445	T	0.509338	0.82621	D	-0.2574	0.13205	T	-0.117447	0.62011	T	0.0288951857825697	0.01821	T	0.90421	0.66396	D	0.76911086	0.81994	0.71113664	0.82959	0.8228287	0.85413	0.71113664	0.82960	-9.121	0.68472	D	0.5687460864492374	0.63605	0.407	0.59970	A	.;.;.	.;.;.	5.575862	0.92262	32	0.99836871223436541	0.91800	0.99020	0.90058	D	AEFBI	0.899119	0.84316	D	0.845355429267861	0.88841	9.732992	0.844022690097737	0.92662	11.55723	0.999999999999553	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	9.559000	0.97245	11.764000	0.95697	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.598	0.87916	859	0.33891	.;.;.	GPSM2|GPSM2	Adrenal_Gland|Thyroid	.	.	rs61754640	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	1	0	0.07143	1828.66	34	chr1	108904128	.	G	A	1828.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.366e+00;DP=740;ExcessHet=0.0000;FS=4.489;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.05;ReadPosRankSum=1.21;SOR=0.326	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1067,102,0	19	1	1	0
chr1	109573739	109573739	G	T	exonic	GNAI3	.	nonsynonymous SNV	GNAI3:NM_006496:exon2:c.G121T:p.A41S,	Auriculocondylar syndrome 1, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.992	D	0.000	D	1.000	D	1.965	M	-2.34	D	0.577	D	0.732	D	0.677	5.254	33	4.95	2.567	9.392	17.974	0.776	0.202459004402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.15	0.32461	T	0.996	0.68779	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.025	0.55430	M	-2.34	0.87989	D	-2.1	0.47852	N	0.589	0.60918	0.577	0.91590	D	0.732	0.90815	D	10	0.8665968	0.85906	D	0.202459	0.86822	D	0.776	0.92501	0.822	0.93461	0.964682072619	0.96430	0.6749589960563338	0.67433	1.48735837486	0.86818	0.856574594975	0.90603	D	0.812649	0.95334	D	0.25127	0.78720	D	0.123156	0.78444	D	0.971368908882141	0.69290	D	0.832517	0.50110	T	0.91167796	0.92452	0.8071175	0.88717	0.91167796	0.92453	0.8071175	0.88718	-8.884	0.66946	D	0.524568101234359	0.59632	0.536	0.66186	A	.	.	4.614239	0.73203	26.0	0.99750483587024696	0.84228	0.99504	0.96829	D	AEFBI	0.930639	0.91824	D	0.809714039946493	0.86710	8.97362	0.786678649761017	0.88852	9.740486	0.999999999999999	0.74766	0.736574	0.97449	0	0.743671	0.97443	0	0.709663	0.75317	0	0.677812	0.66336	0	.	.	4.95	4.95	0.64894	9.735000	0.98037	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.974	0.89044	819	0.41190	.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1096.98	34	chr1	109573739	.	G	T	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.490e-01;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.67;ReadPosRankSum=0.820;SOR=0.791	GT:AD:DP:GQ:PL	0/1:32,38:70:99:1111,0,877	20	0	1	0
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	3	913	508	98	0	704	0.278261	0.0005	0.264	249428	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|not_provided|Hemolytic_anemia|Hereditary_spherocytosis_type_3	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16533.11	113	chr1	158618068	.	G	A	16533.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.748;DP=1490;ExcessHet=1.3217;FS=0.000;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=0.297;SOR=0.671	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1219,0,997	10	2	9	0
chr1	158619315	158619315	T	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon45:c.A6437G:p.Q2146R,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	1	1494	25	2	0	29	0.0096122	.	.	249429	Pyropoikilocytosis,_hereditary|not_provided|not_specified|Hereditary_spherocytosis_type_3|Elliptocytosis_2	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.454	P	0.493	P	.	.	0.983	D	1.64	L	0.72	T	-1.010	T	0.103	T	0.09	3.273	16.99	5.31	2.243	7.184	14.254	0.167	.	0.0087	0.00519169	0.0085	0.0025	0.0060	0.0001	0.0086	0.0125	0.0078	0.0021	0.0087321	1350	154602	rs138055271	0.0111	0.0112	0.0115	0.0108	0.0166	0.0110	0.0109	0.0140	0.0129	0.0021	0.0066	0.0044	2.519e-05	0.0087	0.0166	0.0129	0.0110	0.0024	0.0085	0.0085	0.0089	0.0081	0.0133	0.0081	0.0079	0.0126	0.0123	0.0027	0.0143	0.0089	0.0037	0	0.0063	0.0170	0.0133	0.0128	0.0019	.	.	.	0.042	0.50226	D	0.454	0.36182	P	0.493	0.47443	P	.	.	.	.	0.983059	0.39966	D	2.075	0.57047	M	.	.	.	.	.	.	0.27	0.30574	-1.0100	0.26917	T	0.103	0.37994	T	9	0.009320557	0.00210	T	.	.	.	0.167	0.42761	.	.	0.74388586137	0.74158	0.1021034208544084	0.10140	0.0963774998953	0.10875	0.411576509476	0.26675	T	0.292236	0.66497	T	-0.491981	0.00634	T	-0.464536	0.26106	T	0.0158118388552337	0.00369	T	0.938606	0.76932	D	0.22278374	0.44885	0.29012266	0.55034	0.23382348	0.46193	0.29012266	0.55033	-4.094	0.25201	T	0.4235241378786295	0.51190	0.088	0.11749	B	.;.	.;.	3.909368	0.56999	23.8	0.99455374052013967	0.65530	0.97817	0.77351	D	AEFBI	0.936298	0.93240	D	0.308822589999635	0.56601	3.824982	0.409257441705566	0.62139	4.424644	0.998722672781654	0.37539	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.31	5.31	0.75063	7.533000	0.80893	5.107000	0.47483	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.254	0.65588	657	0.62240	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1758.98	39	chr1	158619315	.	T	C	1758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.678e+00;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-3.530e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:66,71:137:99:1773,0,1777	20	0	1	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	5	902	520	95	0	710	0.282418	.	.	249434	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|Hemolytic_anemia|Hereditary_spherocytosis_type_3|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.601	P	0.395	B	0.296	N	0.032	P	2.3	M	0.82	T	-1.004	T	0.100	T	0.16	2.108	13.00	2.68	0.451	2.457	10.249	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3095	21434.11	139	chr1	158627717	.	G	C	21434.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-1.463e+00;DP=1772;ExcessHet=1.3217;FS=0.539;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-2.220e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/1:53,64:117:99:1650,0,1480	10	2	9	0
chr1	158642966	158642966	G	A	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon32:c.C4453T:p.L1485F,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	2	1470	47	3	0	53	0.017708	.	.	249443	not_provided|Elliptocytosis_2|not_specified|Pyropoikilocytosis,_hereditary|Hereditary_spherocytosis_type_3	MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.013	N	1.000	D	3.135	M	-0.6	T	0.232	D	0.570	D	0.318	4.364	23.0	5.2	2.711	4.685	17.485	0.526	.	0.0182	0.0135783	0.0195	0.0047	0.0128	0	0.0166	0.0240	0.0223	0.0261	0.0196116	3032	154602	rs34973695	0.0239	0.0239	0.0236	0.0243	0.0280	0.0237	0.0236	0.0270	0.0266	0.0029	0.0142	0.0340	0.0001	0.0128	0.0094	0.0260	0.0219	0.0280	0.0176	0.0176	0.0181	0.0171	0.0281	0.0170	0.0168	0.0258	0.0253	0.0043	0.0011	0.0145	0.0406	0.0010	0.0126	0.0238	0.0268	0.0156	0.0281	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.013169	0.28928	N	0.000000	0.999998	0.58761	D	3.555	0.93317	H	-0.6	0.71662	T	-3.55	0.68764	D	0.423	0.46274	0.232	0.86443	D	0.570	0.84449	D	10	0.009739518	0.00219	T	.	.	.	0.526	0.79947	.	.	.	.	0.3032044811607153	0.30233	0.229804232029	0.25532	0.48476588726	0.36714	T	0.534209	0.83935	D	-0.298793	0.08775	T	-0.181022	0.56429	T	0.0528499797072552	0.05994	T	0.956104	0.83363	D	0.5907191	0.72190	0.6780664	0.81090	0.59269214	0.72297	0.6780664	0.81091	-7.059	0.54464	T	0.6834547381841589	0.76015	0.352	0.56677	A	.;.	.;.	4.011907	0.59186	24.1	0.99882779866357774	0.95892	0.95961	0.66907	D	AEFBI	0.791310	0.71994	D	0.808080829851372	0.86611	8.940595	0.723698483346823	0.84177	8.220227	0.999999944129698	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	5.2	0.71720	4.612000	0.60873	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.485	0.87579	607	0.67291	.;.	.	.	.	.	rs34973695	Likely benign	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	1	0	0.04762	1921.11	94	chr1	158642966	.	G	A	1921.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.11;DP=871;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=1.05;SOR=0.652	GT:AD:DP:GQ:PL	0/1:54,34:88:99:975,0,1456	19	0	2	0
chr1	158667938	158667938	T	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon15:c.A1958G:p.Y653C,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	1	1492	27	2	0	31	0.0102819	.	.	249461	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|not_provided|Hereditary_spherocytosis_type_3	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.754	P	0.414	B	0.011	N	1.000	D	2.19	M	0.65	T	-0.956	T	0.110	T	0.806	2.444	14.13	4.95	2.080	6.793	13.607	0.344	.	0.0079	0.00539137	0.0081	0.0021	0.0070	0	0.0079	0.0116	0.01	0.0027	0.0082017	1268	154602	rs148912436	0.0102	0.0102	0.0104	0.0099	0.0154	0.0100	0.0100	0.0128	0.0119	0.0019	0.0073	0.0079	2.52e-05	0.0087	0.0154	0.0115	0.0105	0.0031	0.0080	0.0080	0.0083	0.0078	0.0117	0.0076	0.0075	0.0110	0.0108	0.0024	0.0143	0.0113	0.0075	0	0.0065	0.0170	0.0117	0.0118	0.0027	0.07	0.35349	T	0.001	0.83351	D	0.754	0.43358	P	0.414	0.44907	B	0.011438	0.29535	N	0.000000	0.999965	0.52935	D	2.24	0.63355	M	0.65	0.52642	T	-6.87	0.93175	D	0.795	0.79118	-0.9562	0.39879	T	0.110	0.39699	T	10	0.012779087	0.00273	T	.	.	.	0.344	0.66582	.	.	0.816937234556	0.81521	0.28882995865412153	0.28795	0.240540764824	0.26595	0.524120688438	0.42207	T	0.52715	0.83569	D	-0.224042	0.17444	T	-0.0835662	0.64643	T	0.0240892415118421	0.01157	T	0.920308	0.71149	D	0.23421896	0.46239	0.2651286	0.52342	0.25036946	0.48038	0.2651286	0.52341	-9.523	0.71002	D	0.7509100976635117	0.83298	0.276	0.50916	B	.;.	.;.	3.723089	0.53211	23.3	0.99553839744912587	0.71335	0.96987	0.72040	D	AEFBI	0.726873	0.67539	D	0.299612223802585	0.56128	3.777236	0.282405057958761	0.54513	3.616012	0.995203443856585	0.34004	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.95	4.95	0.64894	7.388000	0.79070	7.861000	0.71444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.0:0.0:0.0:1.0	13.607	0.61522	603	0.67726	.;.	.	.	.	.	.	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	0	0	1	0	0.02381	1176.98	34	chr1	158667938	.	T	C	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.344;DP=811;ExcessHet=0.0000;FS=1.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-1.650e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1191,0,1638	20	0	1	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	Pyropoikilocytosis,_hereditary|Elliptocytosis|not_provided|Spherocytosis,_Recessive	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:CN517202|MedGen:CN239472	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	15062.3	68	chr1	158668075	.	GAAA	GAA,GAAAA,G,GA	15062.3	.	AC=14,3,7,2;AF=0.333,0.071,0.167,0.048;AN=42;BaseQRankSum=-2.100e-02;DP=1517;ExcessHet=20.9642;FS=1.232;InbreedingCoeff=-0.6153;MLEAC=14,3,7,2;MLEAF=0.333,0.071,0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.409;SOR=0.800	GT:AD:DP:GQ:PL	0/1:26,28,5,0,10:69:99:552,0,486,621,441,1421,652,592,1198,1264,363,441,951,1053,1253	0	0	10	0
chr1	162761466	162761466	A	C	intronic	DDR2	.	.	.	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	865024	Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome|not_provided	MONDO:MONDO:0010077,MedGen:C1849011,OMIM:271665,Orphanet:93358|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0071885	0.0020	0.0221	0.0007	0	0	6e-05	0	0	0.0019405	300	154602	rs144350332	0.0007	0.0007	0.0008	0.0006	0.0231	0.0007	0.0007	0.0217	0.0212	0.0231	0.0016	3.826e-05	0	0	0.0012	8.903e-05	0.0015	0.0001	0.0062	0.0062	0.0063	0.0060	0.0213	0.0058	0.0057	0.0202	0.0197	0.0213	0	0.0020	0	0	0	0.0102	7.35e-05	0.0057	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1135.98	34	chr1	162761466	.	A	C	1135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.430e-01;DP=796;ExcessHet=0.0000;FS=1.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=0.408;SOR=0.922	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1150,0,1464	20	0	1	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,3,16,0:48:99:.:.:577,351,1378,0,1010,1036,561,1427,1083,1604	3	0	13	0
chr1	168293284	168293284	-	GTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278196	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0333	0.0427	0.0224	0.0212	0.0098	0.0195	0.0439	0.0785	0.003842	100	26028	rs746838916	0.0596	0.0819	0.0593	0.0600	0.1098	0.0593	0.0591	0.1069	0.1057	0.0570	0.1098	0.0482	0.0845	0.0707	0.0885	0.0555	0.0629	0.0722	0.1451	0.1522	0.1446	0.1456	0.1848	0.1432	0.1425	0.1784	0.1758	0.1799	0.1222	0.1848	0.0991	0.1600	0.1397	0.1396	0.1219	0.1484	0.1679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,3,16,0:48:99:.:.:577,351,1378,0,1010,1036,561,1427,1083,1604	3	0	13	0
chr1	168293284	168293284	-	GTGTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277080	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.0069	0.0016	0.0024	0	0.0029	0	0.0130	0.0005763	15	26028	rs746838916	0.0078	0.0121	0.0077	0.0078	0.0172	0.0076	0.0076	0.0141	0.0130	0.0092	0.0144	0.0060	0.0111	0.0017	0.0172	0.0073	0.0088	0.0108	0.0215	0.0223	0.0222	0.0208	0.0336	0.0208	0.0206	0.0318	0.0311	0.0336	0.0423	0.0224	0.0189	0.0191	0.0032	0.0270	0.0178	0.0223	0.0266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,3,16,0:48:99:.:.:577,351,1378,0,1010,1036,561,1427,1083,1604	3	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|not_provided|not_specified|Thrombophilia_due_to_activated_protein_C_resistance	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.800	N	1.000	P	-0.345	N	-5.02	D	-0.434	T	0.433	T	0.037	-1.434	0.020	-2.86	-0.913	-2.414	3.252	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.2857	19684.36	33	chr1	169529737	.	T	C	19684.36	.	AC=12;AF=0.286;AN=42;BaseQRankSum=0.592;DP=1565;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=18.13;ReadPosRankSum=0.437;SOR=0.646	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3214,312,0	12	3	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	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_provided|not_specified	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.0	B	0.635	N	1.000	P	-0.805	N	2.17	T	-0.910	T	0.005	T	0.022	-0.986	0.281	-1.7	-0.097	-0.454	5.162	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.2143	30189.99	37	chr1	169542517	.	T	C	30189.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.620e-01;DP=2639;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=0.326;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,111:233:99:0|1:169542496_T_C:4209,0,4542:169542496	13	1	7	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	YES	467	200	364	491	0	1346	0.770905	1.0000	0.918	249563	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified|not_provided	MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	1.765	11.86	5.26	2.598	4.200	14.730	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	32697.54	93	chr1	179889309	.	G	A	32697.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=0.720;DP=1629;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=21.37;ReadPosRankSum=0.266;SOR=0.619	GT:AD:DP:GQ:PL	0/1:48,22:70:99:504,0,1226	2	11	8	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	YES	207	250	453	612	0	1677	0.770326	.	.	278205	Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Age_related_macular_degeneration_4|Atypical_hemolytic-uremic_syndrome	MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	P	.	.	-0.03	T	-1.007	T	0.000	T	0.041	-2.252	0.004	-9.09	-4.010	-6.715	2.071	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	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	1	0	0.6429	62931.18	182	chr1	196690107	.	C	T	62931.18	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.049;DP=3170;ExcessHet=3.1640;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=27;MLEAF=0.643;MQ=59.99;MQRankSum=0.00;QD=20.84;ReadPosRankSum=-4.090e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:97,94:191:99:2464,0,2468	2	8	11	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	.	2	810	709	1	0	711	0.305019	0	0.028	865078	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_specified|Basal_laminar_drusen|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|not_provided	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:CN169374|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN071292|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	17455.3	34	chr1	196743447	.	T	C	17455.3	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.46;DP=3012;ExcessHet=7.7275;FS=8.647;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=57.29;MQRankSum=-1.539e+01;QD=6.59;ReadPosRankSum=-2.514e+00;SOR=1.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,43:242:99:0|1:196743447_T_C:1166,0,8094:196743447	10	0	11	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q,	.	YES	440	2	22	1058	0	2138	0.998133	.	.	1704217	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.484	N	1.000	P	-0.345	N	1.98	T	-1.012	T	0.000	T	0.024	1.017	9.155	-4.95	-0.777	-0.899	2.079	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	1.0	76821.81	101	chr1	226735804	.	G	T	76821.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.84;DP=2407;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=33.21;ReadPosRankSum=1.53;SOR=0.318	GT:AD:DP:GQ:PL	1/1:0,122:122:99:3974,366,0	0	21	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A,	.	YES	424	234	529	335	0	1199	0.719256	.	.	1704219	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.983	N	1.000	P	-0.695	N	2.07	T	-0.944	T	0.000	T	0.028	-1.112	0.132	1.01	-0.121	0.079	3.041	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5714	30384.06	73	chr1	226736237	.	A	C	30384.06	.	AC=24;AF=0.571;AN=42;BaseQRankSum=2.65;DP=1720;ExcessHet=0.2438;FS=1.233;InbreedingCoeff=0.2222;MLEAC=24;MLEAF=0.571;MQ=60.00;MQRankSum=0.00;QD=23.70;ReadPosRankSum=0.128;SOR=0.798	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3617,288,0	5	8	8	0
chr1	226737175	226737183	CTGCCGCTG	-	exonic	ITPKB	.	nonframeshift deletion	ITPKB:NM_002221:exon2:c.276_284del:p.G94_S96del,	.	.	422	529	453	118	0	689	0.39439	.	.	1704216	Myeloproliferative_neoplasm,_unclassifiable	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2063	0.281949	0.2860	0.2580	0.2922	0.2649	0.2750	0.2861	0.3190	0.3021	0.0001153	3	26028	rs147889095	0.2812	0.2802	0.2803	0.2821	0.3168	0.2805	0.2802	0.3045	0.2996	0.2472	0.2922	0.2918	0.2716	0.2734	0.3168	0.2803	0.2944	0.2936	0.2774	0.2784	0.2782	0.2765	0.3020	0.2752	0.2742	0.2947	0.2918	0.2558	0.3792	0.3020	0.2989	0.2778	0.2744	0.2789	0.2810	0.2973	0.2968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	18319.76	45	chr1	226737174	.	ACTGCCGCTG	A	18319.76	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.080e-01;DP=1102;ExcessHet=0.0958;FS=0.000;InbreedingCoeff=0.3082;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=29.41;ReadPosRankSum=0.447;SOR=0.673	GT:AD:DP:GQ:PL	1/1:0,53:53:99:2369,160,0	9	5	7	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	Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG|not_provided	MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622|MedGen:CN517202	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	7102.5	88	chr1	236897645	.	CT	C,CTT	7102.5	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=0.279;DP=1850;ExcessHet=6.4157;FS=0.544;InbreedingCoeff=-0.2872;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=-6.480e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:42,7,0:53:64:64,0,851,178,956,1265	6	1	13	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|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	5237.92	24	chr1	237833281	.	G	GAA,GA	5237.92	.	AC=6,20;AF=0.150,0.500;AN=40;BaseQRankSum=0.164;DP=578;ExcessHet=1.5101;FS=1.093;InbreedingCoeff=-0.0690;MLEAC=6,21;MLEAF=0.150,0.525;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.147;SOR=0.801	GT:AD:DP:GQ:PL	1/2:2,3,12:17:28:345,229,282,28,0,28	2	0	2	1
chr1	241500603	241500604	GA	-	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	435	459	46	27	555	655	0.0982318	.	.	280521	Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|Fumarase_deficiency|Hereditary_cancer-predisposing_syndrome|FH-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1491361156	0.0408	0.0471	0.0403	0.0412	0.1123	0.0405	0.0404	0.1094	0.1083	0.1101	0.0807	0.0668	0.1123	0.0526	0.0602	0.0329	0.0476	0.0425	0.0220	0.0219	0.0220	0.0219	0.0720	0.0213	0.0210	0.0697	0.0687	0.0720	0.0012	0.0094	0.0024	0.0065	0.0031	0.0074	0.0030	0.0122	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11846.01	26	chr1	241500602	.	TGA	TGAGA,TGAGAGA,T,TGAGAGAGAGA,TGAGAGAGA,TGAGAGAGAGAGAGAGA	11846.01	.	AC=10,12,1,3,6,1;AF=0.250,0.300,0.025,0.075,0.150,0.025;AN=40;BaseQRankSum=0.270;DP=1010;ExcessHet=0.9430;FS=2.185;InbreedingCoeff=-0.1062;MLEAC=10,12,1,3,6,1;MLEAF=0.250,0.300,0.025,0.075,0.150,0.025;MQ=59.96;MQRankSum=0.00;QD=25.59;ReadPosRankSum=0.383;SOR=1.052	GT:AD:DP:GQ:PL	1/2:4,11,8,0,0,0,0:23:99:537,110,150,169,0,312,479,218,316,591,479,218,316,591,591,479,218,316,591,591,591,479,218,316,591,591,591,591	0	0	1	1
chr2	21001981	21001981	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G13441A:p.A4481T,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	1	1400	113	8	0	129	0.0440423	.	.	133868	Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_familial,_1|not_provided|Cardiovascular_phenotype|not_specified|Familial_hypercholesterolemia	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.024	B	0.007	B	0.682	N	1.000	D	0.52	N	1.19	T	-1.080	T	0.013	T	0.077	1.735	11.76	-0.996	-0.226	0.077	5.082	0.033	.	0.0285	0.0141773	0.0241	0.0057	0.0158	0.0002	0.0203	0.0330	0.0309	0.0187	0.0248703	3845	154602	rs1801695	0.0317	0.0317	0.0317	0.0317	0.0614	0.0315	0.0314	0.0561	0.0540	0.0062	0.0195	0.0352	0.0001	0.0215	0.0614	0.0354	0.0287	0.0206	0.0260	0.0260	0.0261	0.0259	0.0406	0.0253	0.0250	0.0380	0.0369	0.0062	0.0802	0.0406	0.0366	0	0.0238	0.0578	0.0359	0.0322	0.0205	0.148	0.24857	T	0.127	0.35082	T	.	.	.	.	.	.	0.681940	0.10251	N	0.840251	1	0.08975	N	.	.	.	1.19	0.37578	T	-1.3	0.32590	N	0.02	0.00308	-1.0802	0.07310	T	0.013	0.05033	T	10	0.0020777583	0.00030	T	.	.	.	0.033	0.08068	.	.	.	.	0.09369258253249489	0.09301	0.0364196431978	0.03852	0.293061554432	0.09370	T	.	.	.	-0.628348	0.00098	T	-0.649592	0.08983	T	0.00430711358315662	0.00046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13503	B	.	.	0.198878	0.05841	2.280	0.98444457265597174	0.41553	0.41293	0.26625	N	AEFBCI	0.409012	0.48046	N	-0.834480860197701	0.12435	0.6061245	-0.81574845949859	0.14113	0.7358027	0.88503607229943	0.25708	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	-0.996	0.09696	0.190000	0.16864	-1.438000	0.05439	0.549000	0.26987	0.969000	0.34210	0.000000	0.08366	0.092000	0.17891	0.4201:0.2784:0.0:0.3014	5.082	0.13995	861	0.33516	.	APOB	Adipose_Subcutaneous	.	.	.	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	1	0	0.02381	1696.98	33	chr2	21001981	.	C	T	1696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.242;DP=1175;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-1.072e+00;SOR=0.725	GT:AD:DP:GQ:PL	0/1:78,61:139:99:1711,0,2156	20	0	1	0
chr2	24254381	24254381	T	C	exonic	ITSN2	.	nonsynonymous SNV	ITSN2:NM_001348182:exon23:c.A2819G:p.Y940C	.	.	429	1092	1	0	0	1	0.000457666	.	.	2797545	not_provided|ITSN2-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.001	B	0.004	U	0.922	N	0	N	1.57	T	-1.087	T	0.026	T	0.161	0.520	6.820	-5.66	-1.111	0.358	6.519	0.049	0.0104704500214	.	0.000599042	0.0004	0	0	0.0061	0	0	0	0	0.0003687	57	154602	rs201295238	0.0001	0.0001	0.0001	0.0002	0.0048	0.0001	0.0001	0.0042	0.0040	8.973e-05	2.237e-05	0	0.0048	0	0.0002	9.004e-06	0.0002	3.481e-05	0.0003	0.0003	0.0002	0.0003	0.0058	0.0002	0.0002	0.0042	0.0036	0.0002	0	0	0	0.0058	0	0	1.47e-05	0.0009	0	0.181	0.22400	T	0.164	0.31125	T	0.0	0.07471	B	0.001	0.04355	B	0.004188	0.34013	U	0.000000	0.922257	0.27265	N	0	0.06538	N	1.57	0.29342	T	-0.74	0.32791	N	0.113	0.10056	-1.0873	0.05995	T	0.026	0.11264	T	10	0.007881463	0.00179	T	0.01047	0.27045	T	0.049	0.13647	.	.	0.537170616986	0.53368	0.7682370015963108	0.76772	0.188594219505	0.21179	0.303411543369	0.10911	T	0.089309	0.38345	T	-0.588224	0.00172	T	-0.612593	0.11776	T	0.00243003524415305	0.00025	T	0.152985	0.01314	T	0.04390964	0.06928	0.03728498	0.03349	0.04390964	0.06927	0.03728498	0.03349	-4.107	0.30784	T	.	.	0.060	0.01470	B	.;.;.;.	.;.;.;.	1.523226	0.19552	14.32	0.7061894601431602	0.09355	0.37712	0.25824	N	AEFBI	0.052396	0.09347	N	-1.32308043800597	0.03412	0.1523835	-1.27295184062213	0.04799	0.2272665	0.74677296602855	0.23297	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.22	-5.66	0.02255	0.352000	0.19851	-0.692000	0.07835	-0.831000	0.02872	0.779000	0.29461	0.000000	0.08366	0.393000	0.26625	0.0:0.3528:0.2342:0.413	6.519	0.21459	401	0.82673	.;.;.;.	.	.	.	.	.	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	0.02381	1080.98	34	chr2	24254381	.	T	C	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=766;ExcessHet=0.0000;FS=0.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.996;SOR=0.798	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1095,0,756	20	0	1	0
chr2	25168630	25168630	T	C	UTR5	POMC	NM_001035256:c.-3858A>G	.	.	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	.	.	.	.	.	.	.	.	.	.	285631	Obesity_due_to_pro-opiomelanocortin_deficiency|Obesity	MONDO:MONDO:0012335,MedGen:C1857854,OMIM:609734,Orphanet:71526|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	.	.	.	.	.	.	.	.	0.0013063	34	26028	rs139229417	0	1.749e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	0	.	0.0050	0.0050	0.0052	0.0047	0.0175	0.0047	0.0046	0.0164	0.0160	0.0175	0	0.0014	0	0	0	0	2.944e-05	0.0057	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	75.9	2	chr2	25168630	.	T	C	75.9	.	AC=2;AF=0.071;AN=28;DP=65;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3072;MLEAC=2;MLEAF=0.071;MQ=60.00;QD=25.30;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0	13	1	0	7
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H,	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	YES	0	1399	110	13	0	136	0.0463531	.	.	22778	not_provided|Irido-corneo-trabecular_dysgenesis|Glaucoma_3A|not_specified|Congenital_ocular_coloboma|Congenital_glaucoma|Myopathy,_centronuclear,_5|Anterior_segment_dysgenesis_6|CYP1B1-related_disorder|Glaucoma,_early-onset,_digenic	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MONDO:MONDO:0020366,MedGen:C0020302|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MedGen:CN239260|MedGen:C4016760	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.978	D	0.000	D	1.000	A	2.695	M	-0.56	T	0.251	D	0.577	D	0.897	4.585	24.9	5.65	2.657	7.675	17.194	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6219.11	34	chr2	38071251	.	C	T	6219.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=1312;ExcessHet=0.1072;FS=1.103;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=1.33;SOR=0.599	GT:AD:DP:GQ:PL	0/1:121,99:220:99:2552,0,2841	19	0	2	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I,	Cystinuria, Autosomal recessive, Autosomal dominant	YES	1	171	630	720	0	2070	0.858209	.	.	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	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.001	B	0.120	N	1.000	P	1.095	L	-4.41	D	-0.903	T	0.000	T	0.046	0.686	7.667	-1.37	0.140	-0.163	2.100	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	1	0	0.8333	74868.88	116	chr2	44320435	.	G	A	74868.88	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-1.187e+00;DP=2972;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=25.99;ReadPosRankSum=0.083;SOR=0.687	GT:AD:DP:GQ:PL	0/1:79,66:145:99:1926,0,2342	0	14	7	0
chr2	47806752	47806753	TT	-	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	94983	Breast_and/or_ovarian_cancer|Lynch_syndrome_5|not_specified|not_provided	MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1323	0.1439	0.1002	0.1406	0.1805	0.1444	0.1260	0.0985	0.0002305	6	26028	rs1491083972	0.0558	0.0746	0.0554	0.0562	0.0568	0.0555	0.0553	0.0554	0.0552	0.0568	0.0478	0.0707	0.0549	0.0678	0.0488	0.0558	0.0550	0.0492	0.0039	0.0046	0.0038	0.0039	0.0069	0.0036	0.0035	0.0049	0.0042	0.0027	0	0.0027	0.0024	0.0029	0.0042	0	0.0048	0.0026	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8839.08	81	chr2	47806751	.	CTT	C,CT	8839.08	.	AC=3,20;AF=0.071,0.476;AN=42;BaseQRankSum=-5.280e-01;DP=1860;ExcessHet=36.0830;FS=0.544;InbreedingCoeff=-0.8261;MLEAC=2,20;MLEAF=0.048,0.476;MQ=59.99;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.160;SOR=0.758	GT:AD:DP:GQ:PL	1/2:10,9,25:48:7:589,302,587,7,0,101	0	0	1	0
chr2	48713934	48713934	A	-	intronic	LHCGR;STON1-GTF2A1L	.	.	.	.	.	8	920	487	107	0	701	0.275876	.	.	45133	not_provided|Gonadotropin-independent_familial_sexual_precocity	MedGen:C3661900|MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8827.49	69	chr2	48713933	.	CA	C	8827.49	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.440e-01;DP=1030;ExcessHet=0.2785;FS=0.528;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=17.69;ReadPosRankSum=0.469;SOR=0.640	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2491,187,0	15	1	5	0
chr2	69326244	69326245	AA	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	20	58	78	59	11	207	0.628205	.	.	287070	Congenital_Myasthenic_Syndrome,_Recessive|Congenital_myasthenic_syndrome_12|not_provided	MedGen:CN239337|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0895	0.1623	0.0441	0.2283	0.0324	0.0560	0.0745	0.1540	0.0003842	10	26028	rs201268947	0.0369	0.0687	0.0349	0.0389	0.1957	0.0366	0.0365	0.1919	0.1903	0.1245	0.0257	0.0432	0.1957	0.0199	0.0296	0.0216	0.0478	0.1207	0.0320	0.0320	0.0303	0.0338	0.1935	0.0312	0.0309	0.1832	0.1790	0.0674	0	0.0143	0.0117	0.1935	0.0014	0.0112	0.0030	0.0297	0.1004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	14896.37	76	chr2	69326243	.	GAA	GA,G,GAAA	14896.37	.	AC=23,2,1;AF=0.548,0.048,0.024;AN=42;BaseQRankSum=-8.000e-03;DP=1288;ExcessHet=10.5502;FS=0.000;InbreedingCoeff=-0.3473;MLEAC=22,2,1;MLEAF=0.524,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:38,6,0,6:50:0:9,0,939,147,926,1081,0,731,911,907	1	5	12	0
chr2	71681053	71681053	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon52:c.G5957A:p.R1986Q	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	272053	Miyoshi_muscular_dystrophy_1|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_provided|Qualitative_or_quantitative_defects_of_dysferlin|DYSF-related_disorder|Primary_dilated_cardiomyopathy|not_specified	MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|.|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|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	1.9	L	-1.74	D	0.366	D	0.689	D	0.747	5.305	34	5.92	2.804	7.916	17.815	0.734	0.182813210755	7.7e-05	0.000798722	0.0003	9.762e-05	0.0003	0	0.0002	0.0004	0.0011	0.0003	0.0003105	48	154602	rs115407852	0.0002	0.0002	0.0002	0.0002	0.0052	0.0002	0.0002	0.0037	0.0033	0.0003	0.0005	0.0002	0	0	0.0052	0.0002	0.0004	0.0003	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	4.811e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0004	0.003	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.992	0.92359	D	0.000000	0.84330	D	0.000000	0.999852	0.49910	D	3.105	0.87672	M	-1.74	0.83413	D	-3.29	0.65742	D	0.875	0.92550	0.366	0.88577	D	0.689	0.89261	D	10	0.55206025	0.64311	D	0.182813	0.85645	D	0.734	0.90721	.	.	0.856121452604	0.85473	0.8003969803646807	0.79993	0.684356733275	0.60216	0.498260140419	0.38585	T	0.872279	0.97251	D	0.0409565	0.57170	T	0.155205	0.80512	D	0.252051460036843	0.22964	T	0.987601	0.95770	D	0.8588213	0.87996	0.68785614	0.81639	0.81976295	0.85205	0.6852142	0.81493	-5.625	0.43020	T	0.7333304895901095	0.81509	0.215	0.44809	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.880106	0.80021	27.2	0.99955153474776592	0.99969	0.98047	0.79151	D	AEFDBI	0.945882	0.95469	D	0.843869428047154	0.88756	9.699652	0.853233525247911	0.93203	11.89018	0.999999788427813	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	8.041000	0.89198	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.815	0.88542	610	0.67008	.;.;.;.;Ferlin, C-terminal domain;.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1986.98	35	chr2	71681053	.	G	A	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-5.900e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:88,79:167:99:2001,0,2107	20	0	1	0
chr2	73572505	73572505	C	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon16:c.C10628G:p.T3543S	Alstrom syndrome, Autosomal recessive	.	0	1507	14	1	0	16	0.00528053	.	.	221338	Alstrom_syndrome|Cardiovascular_phenotype|not_specified|Monogenic_diabetes|not_provided	MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.709	P	0.413	B	0.112	N	1.000	D	1.445	L	3.23	T	-1.060	T	0.019	T	0.286	2.789	15.29	3.64	1.321	1.586	11.691	0.024	.	0.0090	0.00179712	0.0069	0.0026	0.0037	0	0.0026	0.0099	0.0034	0.0048	0.0073802	1141	154602	rs45501594	0.0114	0.0114	0.0117	0.0110	0.0135	0.0112	0.0112	0.0133	0.0132	0.0018	0.0038	0.0089	0	0.0016	0.0024	0.0135	0.0103	0.0051	0.0067	0.0067	0.0074	0.0059	0.0105	0.0063	0.0062	0.0099	0.0097	0.0024	0	0.0072	0.0112	0	0.0017	0	0.0105	0.0085	0.0031	.	.	.	0.107	0.92824	T	.	.	.	.	.	.	0.111828	0.19383	N	0.440276	0.999611	0.20864	N	.	.	.	.	.	.	.	.	.	0.312	0.35194	-1.0602	0.11706	T	0.019	0.08079	T	10	0.008732915	0.00198	T	.	.	.	.	.	.	.	0.220303561663	0.21668	0.08621267991133547	0.08555	.	.	0.386845707893	0.23223	T	0.026777	0.19745	T	-0.411199	0.01951	T	-0.351112	0.39077	T	0.0141664162720664	0.00278	T	0.516848	0.16688	T	0.07454579	0.16737	0.107275754	0.25823	0.0747966	0.16809	0.11772158	0.28417	-2.395	0.05102	T	0.6994786911284812	0.77825	0.129	0.27613	B	.;.;.	.;.;.	2.341735	0.30010	18.30	0.99283553305989192	0.58008	0.35538	0.25325	N	AEFBI	0.042309	0.06548	N	-0.0656081298286523	0.38908	2.286123	-0.0425133911051045	0.37815	2.219328	5.33123263500463E-4	0.07248	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.6	3.64	0.40864	1.628000	0.36672	2.592000	0.33474	0.599000	0.40250	0.995000	0.38783	0.351000	0.24472	0.981000	0.58702	0.0:0.6551:0.3449:0.0	11.691	0.50780	513	0.74941	.;.;.	.	.	.	.	.	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	1	0	0.02381	1938.98	35	chr2	73572505	.	C	G	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=843;ExcessHet=0.0000;FS=6.089;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-5.100e-01;SOR=0.912	GT:AD:DP:GQ:PL	0/1:73,72:145:99:1953,0,1993	20	0	1	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	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1934.59	4	chr2	113062899	.	T	C	1934.59	.	AC=26;AF=0.722;AN=36;BaseQRankSum=-6.740e-01;DP=101;ExcessHet=0.0192;FS=2.320;InbreedingCoeff=0.2694;MLEAC=28;MLEAF=0.778;MQ=60.00;MQRankSum=0.00;QD=33.36;ReadPosRankSum=0.00;SOR=0.205	GT:AD:DP:GQ:PL	1/1:0,7:7:21:221,21,0	3	11	4	3
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	.	1089	122	46	265	0	576	0.702439	.	.	283793	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.64154	16698	26028	rs1800930	0.6402	0.5794	0.6263	0.6522	0.7949	0.6378	0.6368	0.7880	0.7851	0.7003	0.6800	0.6607	0.7105	0.5871	0.7339	0.5921	0.6385	0.7949	0.6528	0.6527	0.6496	0.6560	0.8014	0.6494	0.6480	0.7803	0.7717	0.7079	0.7577	0.6634	0.6885	0.7078	0.6301	0.7381	0.6008	0.6883	0.8014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7727	904.29	3	chr2	113062953	.	A	G	904.29	.	AC=17;AF=0.773;AN=22;BaseQRankSum=-9.670e-01;DP=70;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3944;MLEAC=24;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=26.02;ReadPosRankSum=0.00;SOR=0.495	GT:AD:DP:GQ:PL	1/1:0,2:2:6:82,6,0	2	8	1	10
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	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	278.85	47	chr2	113063237	.	C	G	278.85	.	AC=10;AF=0.714;AN=14;DP=47;ExcessHet=0.0000;FS=0.000;MLEAC=17;MLEAF=1.00;MQ=60.00;QD=27.89;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	5	0	14
chr2	113133033	113133033	C	T	UTR3	IL1RN	NM_000577:c.*162C>T;NM_001318914:c.*162C>T;NM_173843:c.*162C>T;NM_173841:c.*162C>T;NM_001379360:c.*162C>T;NM_173842:c.*162C>T	.	.	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	.	103	1312	92	15	0	122	0.0444283	.	.	283664	Autoinflammatory_syndrome|Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01877	.	.	.	.	.	.	.	.	0.0056209	869	154602	rs4252041	0.0351	0.0448	0.0341	0.0359	0.0658	0.0346	0.0345	0.0575	0.0543	0.0081	0.0224	0.0245	0	0.0193	0.0658	0.0430	0.0364	0.0361	0.0269	0.0269	0.0284	0.0252	0.0413	0.0262	0.0259	0.0400	0.0395	0.0076	0.0011	0.0337	0.0253	0.0006	0.0115	0.0850	0.0413	0.0303	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	321.72	6	chr2	113133033	.	C	T	321.72	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.28;DP=198;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.3699;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=26.81;ReadPosRankSum=0.842;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,4:4:12:133,12,0	18	1	2	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.502	24.2	5.82	2.764	6.476	18.870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	547.01	131	chr2	151680729	.	C	T	547.01	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.151e+00;DP=1823;ExcessHet=0.6776;FS=116.428;InbreedingCoeff=-0.1070;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=1.23;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,25:123:99:.:.:250,0,2819	17	0	4	0
chr2	171448665	171448665	-	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	295	1061	129	35	2	201	0.0857389	.	.	1153880	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1900	0.1440	0.2965	0.1542	0.1838	0.1738	0.1942	0.2313	0.0121408	316	26028	rs139655160	0.1523	0.1653	0.1512	0.1534	0.2241	0.1517	0.1515	0.2196	0.2178	0.1225	0.2241	0.1819	0.1751	0.1501	0.1619	0.1464	0.1560	0.1975	0.1961	0.1983	0.1956	0.1968	0.2795	0.1943	0.1935	0.2670	0.2620	0.1627	0.1681	0.2502	0.2551	0.1836	0.2003	0.2363	0.1955	0.2145	0.2795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8128.42	49	chr2	171448665	.	C	CT	8128.42	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.490;DP=809;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=-2.670e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,10:29:99:0|1:171448665_C_CT:326,0,760:171448665	8	1	12	0
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	305	1005	21	3	188	215	0.0132548	.	.	189063	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207069	0.2822	0.2104	0.4319	0.2364	0.2448	0.2580	0.2773	0.3437	0.0139778	2161	154602	rs192861143	0.2297	0.1974	0.2282	0.2312	0.3467	0.2289	0.2286	0.3409	0.3385	0.1856	0.3467	0.2716	0.2622	0.2223	0.2208	0.2204	0.2344	0.2999	0.2054	0.2045	0.2034	0.2075	0.2886	0.2034	0.2026	0.2757	0.2706	0.1695	0.1726	0.2733	0.2593	0.1987	0.2244	0.2396	0.2008	0.2248	0.2886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	9299.46	49	chr2	171448667	.	C	T	9299.46	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.544;DP=842;ExcessHet=6.1794;FS=1.204;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=18.31;ReadPosRankSum=0.040;SOR=0.580	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,10:29:99:0|1:171448665_C_CT:326,0,760:171448665	8	1	12	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	50	730	457	105	180	847	0.313587	.	.	1258517	not_provided|not_specified|Woodhouse-Sakati_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	10184.04	71	chr2	171458134	.	AT	ATT,A	10184.04	.	AC=4,14;AF=0.095,0.333;AN=42;BaseQRankSum=0.154;DP=1314;ExcessHet=8.7631;FS=0.633;InbreedingCoeff=-0.3611;MLEAC=4,14;MLEAF=0.095,0.333;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.111;SOR=0.809	GT:AD:DP:GQ:PL	0/2:28,0,26:54:99:572,656,1354,0,699,620	5	0	3	0
chr2	178431939	178431939	T	C	ncRNA_intronic	CHROMR	.	.	.	.	.	60	1169	290	3	0	296	0.112377	.	.	283886	not_provided|Dystonia_16	MedGen:C3661900|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122138	3179	26028	rs3997877	0.2943	0.2403	0.3023	0.2867	0.3147	0.2932	0.2928	0.3134	0.3128	0.1778	0.2978	0.2815	0.3023	0.2193	0.2375	0.3147	0.2731	0.2033	0.2253	0.2283	0.2273	0.2233	0.2781	0.2233	0.2225	0.2660	0.2612	0.1598	0.3223	0.2653	0.2686	0.2781	0.2030	0.2021	0.2530	0.2250	0.2176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	1605.57	12	chr2	178431939	.	T	C	1605.57	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-2.690e-01;DP=295;ExcessHet=2.5830;FS=8.898;InbreedingCoeff=-0.2415;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=7.99;ReadPosRankSum=-2.450e-01;SOR=1.381	GT:AD:DP:GQ:PL	0/1:10,5:15:99:159,0,362	13	0	7	1
chr2	178461008	178461008	C	T	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001353776:exon6:c.C799T:p.R267C	.	.	0	1161	119	13	229	374	0.0587758	.	.	53040	not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_59	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.679	P	0.000	U	0.926	D	0.895	L	0.17	T	-0.993	T	0.016	T	0.141	4.247	22.1	6.04	2.873	2.135	14.394	0.235	.	0.0631	0.028754	0.0580	0.0119	0.0384	0.0001	0.0753	0.0824	0.0644	0.0231	0.0547923	8471	154602	rs17304212	0.0713	0.0714	0.0724	0.0703	0.0815	0.0710	0.0708	0.0811	0.0809	0.0106	0.0417	0.0512	0.0001	0.0739	0.0531	0.0815	0.0631	0.0233	0.0545	0.0545	0.0555	0.0534	0.0833	0.0535	0.0531	0.0815	0.0807	0.0143	0.0548	0.0524	0.0522	0.0006	0.0745	0.0238	0.0833	0.0501	0.0205	0.005	0.63226	D	0.052	0.47581	T	0.988	0.62325	D	0.679	0.53442	P	0.000358	0.45440	U	0.089808	0.926253	0.36829	D	0.69	0.16971	N	0.17	0.60485	T	-0.67	0.19297	N	0.22	0.24634	-0.9928	0.31880	T	0.016	0.06473	T	10	0.0028128922	0.00044	T	.	.	.	0.235	0.53788	.	.	.	.	0.4432695074346097	0.44244	0.502497821918	0.48607	0.325919628143	0.14317	T	0.070157	0.33889	T	-0.503671	0.00545	T	-0.434577	0.29416	T	0.0152478500945219	0.00335	T	0.827017	0.49049	T	0.107861176	0.25505	0.054622885	0.09429	0.107148804	0.25336	0.06746118	0.13960	-4.784	0.34404	T	0.27187868743608723	0.36562	0.122	0.37293	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.073661	0.84639	28.4	0.99891420028298228	0.96513	0.96357	0.68743	D	AEFI	0.573929	0.57692	D	0.488531693280481	0.66418	4.94768	0.560315800465855	0.72118	5.759705	0.978132306747711	0.29890	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.04	6.04	0.98025	2.203000	0.42387	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.2446:0.7554:0.0:0.0	14.394	0.66568	320	0.86992	.;.;.;.;.;.;.;.	FKBP7|FKBP7|FKBP7|PLEKHA3|FKBP7|RBM45|DFNB59	Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Kidney_Cortex|Testis	DFNB59	Testis	.	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	1	0	0.119	9250.62	36	chr2	178461008	.	C	T,G	9250.62	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=0.414;DP=1365;ExcessHet=1.1607;FS=3.375;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.595;SOR=0.490	GT:AD:DP:GQ:PL	0/2:70,0,65:135:99:1662,1872,3920,0,2048,1853	16	0	4	0
chr2	178461008	178461008	C	G	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001353776:exon6:c.C799G:p.R267G	.	.	0	1161	119	13	229	374	0.0587758	.	.	53039	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_59	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.268	B	0.074	B	0.000	U	0.966	N	0.895	L	0.21	T	-1.073	T	0.014	T	0.369	2.893	15.64	6.04	2.873	2.135	14.394	0.176	.	.	0.0393371	0.0553	0.0391	0.0314	0.0049	0.0783	0.0665	0.0667	0.0532	0.0519463	8031	154602	rs17304212	0.0653	0.0654	0.0653	0.0653	0.0700	0.0649	0.0648	0.0696	0.0694	0.0385	0.0339	0.0512	0.0082	0.0791	0.0626	0.0700	0.0614	0.0565	0.0558	0.0558	0.0556	0.0559	0.0682	0.0548	0.0544	0.0666	0.0659	0.0400	0.0099	0.0433	0.0510	0.0044	0.0865	0.0544	0.0682	0.0610	0.0542	0.035	0.43708	D	0.212	0.26549	T	0.268	0.31720	B	0.074	0.28220	B	0.000358	0.45440	U	0.089808	0.965609	0.25931	N	0.69	0.16971	N	0.21	0.59983	T	0.38	0.03579	N	0.203	0.22486	-1.0725	0.08873	T	0.014	0.05705	T	10	0.0028193295	0.00045	T	.	.	.	0.176	0.44373	.	.	.	.	0.408683402898632	0.40784	0.209859520089	0.23458	0.286527961493	0.08419	T	0.047728	0.27809	T	-0.418119	0.01759	T	-0.322324	0.42320	T	0.010165578161089	0.00137	T	0.811219	0.46271	T	0.11662337	0.27505	0.11295493	0.27256	0.10953706	0.25895	0.12079491	0.29148	-3.401	0.15070	T	0.14916472889405896	0.17422	0.096	0.25914	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.258701	0.44559	22.0	0.99623633323306127	0.75594	0.96974	0.71966	D	AEFI	0.604832	0.59578	D	0.0824565520564724	0.45644	2.81763	0.272322233914736	0.53928	3.559673	0.978132306747711	0.29890	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.04	6.04	0.98025	2.203000	0.42387	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.2446:0.7554:0.0:0.0	14.394	0.66568	320	0.86992	.;.;.;.;.;.;.;.	.	.	.	.	rs17304212	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	1	0	0.119	9250.62	36	chr2	178461008	.	C	T,G	9250.62	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=0.414;DP=1365;ExcessHet=1.1607;FS=3.375;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.595;SOR=0.490	GT:AD:DP:GQ:PL	0/2:70,0,65:135:99:1662,1872,3920,0,2048,1853	16	0	4	0
chr2	178557491	178557491	G	T	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon157:c.C60576A:p.G20192G	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	.	.	.	.	.	.	.	.	.	.	365980	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|not_specified|Cardiovascular_phenotype	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1e-05	.	0.0001	0.0003	8.651e-05	0	0	0.0001	0	0.0001	0.00011	17	154602	rs72648230	6.91e-05	6.909e-05	6.126e-05	7.702e-05	0.0010	5.781e-05	5.392e-05	0.0005	0.0003	0.0002	6.708e-05	3.826e-05	0	0	0.0010	6.116e-05	0.0001	9.275e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.745e-05	8.259e-05	9.565e-05	7.011e-05	0.0002	0	6.546e-05	0.0003	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	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	1	1	0.02381	2980.98	37	chr2	178557491	.	G	T	2980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.985e+00;DP=979;ExcessHet=0.0000;FS=13.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=-1.925e+00;SOR=1.125	GT:AD:DP:GQ:PL	0/1:114,104:218:99:2995,0,3308	20	0	1	0
chr2	178647041	178647044	TATA	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	13	40	104	7	62	180	0.59596	.	.	189623	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5500.35	31	chr2	178647040	.	GTATA	GTA,G,GTATATA	5500.35	.	AC=17,2,4;AF=0.405,0.048,0.095;AN=42;BaseQRankSum=0.672;DP=552;ExcessHet=21.3848;FS=6.022;InbreedingCoeff=-0.6389;MLEAC=17,2,4;MLEAF=0.405,0.048,0.095;MQ=59.99;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-3.040e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/1:17,9,4,0:30:99:264,0,496,153,435,846,306,560,803,919	1	0	14	0
chr2	178663311	178663311	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon173:c.T36655G:p.L12219V,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	73	1266	106	77	0	260	0.0931232	.	.	221130	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.83	T	0.0	B	0.001	B	.	.	1.000	P	.	.	.	.	-0.980	T	0.032	T	0.032	-0.241	2.839	-4.3	-1.491	-7.146	4.794	0.016	.	.	.	0.0150	0.0175	0.0142	0.0246	0.0064	0.0084	0.0161	0.0471	0.0001153	3	26028	rs12994774	0.1053	0.1441	0.0997	0.1110	0.4941	0.1048	0.1046	0.4879	0.4853	0.1766	0.1914	0.1555	0.4941	0.1269	0.1625	0.0697	0.1437	0.2890	0.1768	0.2604	0.1773	0.1762	0.4475	0.1748	0.1739	0.4281	0.4203	0.2099	0.4255	0.2226	0.1839	0.4475	0.1409	0.2125	0.1303	0.1755	0.3076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	0.1	0.61326	T	.	.	.	0.026	0.00527	-0.9795	0.35117	T	0.032	0.13548	T	6	0.0017544031	0.00022	T	.	.	.	.	.	.	.	.	.	.	.	0.0842442114282	0.09510	.	.	.	.	.	.	-0.363034	0.03962	T	-0.75925	0.03139	T	0.000459135104007003	0.00004	T	0.0683932	0.00498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.212283	0.00518	0.012	0.6304760633085309	0.07121	0.00290	0.01555	N	AEFBI	0.049581	0.08580	N	-2.27256405002745	0.00053	0.002253834	-2.33442631479677	0.00056	0.002438733	0.00319315519440736	0.09983	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.22	-4.3	0.03454	-4.205000	0.00312	.	.	-2.188000	0.00360	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3266:0.2877:0.0:0.3857	4.794	0.12634	426	0.81110	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.1	393.34	41	chr2	178663311	.	A	C	393.34	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.65;DP=931;ExcessHet=0.0090;FS=46.223;InbreedingCoeff=0.4690;MLEAC=4;MLEAF=0.100;MQ=40.02;MQRankSum=-1.622e+00;QD=2.49;ReadPosRankSum=1.62;SOR=5.631	GT:AD:DP:GQ:PL	0/1:56,6:62:56:56,0,1463	17	1	2	1
chr2	178698917	178698917	A	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	602	811	65	11	33	120	0.050907	.	.	284061	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Hypertrophic_cardiomyopathy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3475	0.2323	0.3611	0.3926	0.3437	0.3114	0.3652	0.4068	0.0002587	40	154602	rs368277751	0.2822	0.2893	0.2800	0.2846	0.3367	0.2814	0.2810	0.3308	0.3284	0.3185	0.3091	0.3275	0.3367	0.3028	0.2767	0.2747	0.2980	0.3072	0.0042	0.0065	0.0033	0.0052	0.0055	0.0038	0.0037	0.0042	0.0038	0.0019	0	0.0055	0.0081	0.0039	0.0128	0	0.0043	0.0037	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	843.68	31	chr2	178698916	.	TA	T,TAA	843.68	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-8.020e-01;DP=531;ExcessHet=1.7912;FS=2.892;InbreedingCoeff=-0.1674;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=6.49;ReadPosRankSum=0.457;SOR=0.497	GT:AD:DP:GQ:PL	0/2:3,0,7:10:45:142,151,217,0,66,45	15	0	5	0
chr2	214934127	214934127	G	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon44:c.C6677T:p.T2226I	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	1	1516	4	1	0	6	0.00197498	.	.	719581	not_provided|Congenital_ichthyosis_of_skin|ABCA12-related_disorder	MedGen:C3661900|MedGen:C0020758|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.518	P	0.462	P	0.136	N	1.000	D	1.7	L	-1.72	D	-0.010	T	0.542	D	0.429	3.353	17.29	5.59	2.797	1.043	14.268	0.352	0.0377526259987	0.0020	0.00119808	0.0014	0.0003	0.0013	0	0.0002	0.0021	0	0.0007	0.0015006	232	154602	rs146834697	0.0024	0.0024	0.0024	0.0023	0.0056	0.0023	0.0023	0.0040	0.0035	0.0004	0.0019	0.0003	0	0.0001	0.0056	0.0028	0.0024	0.0005	0.0014	0.0014	0.0015	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0004	0	0.0022	0.0003	0	9.423e-05	0.0034	0.0024	0.0014	0.0004	0.039	0.43393	D	0.035	0.52389	D	0.228	0.37483	B	0.14	0.46509	B	0.136249	0.18453	N	0.555420	0.63487	0.30667	N	1.425	0.35738	L	-1.72	0.83241	D	-3.12	0.63782	D	0.242	0.27316	-0.0097	0.82056	T	0.542	0.83146	D	10	0.015284419	0.00321	T	0.037753	0.57812	D	0.352	0.67326	.	.	0.701912758934	0.69933	0.3462876169233124	0.34542	0.197728138392	0.22142	0.46284943819	0.33701	T	0.483917	0.81145	T	-0.285099	0.10135	T	-0.185352	0.56023	T	0.0475143686642646	0.05056	T	0.592041	0.21827	T	0.11353767	0.26813	0.14413582	0.34231	0.10964388	0.25920	0.14422622	0.34248	-5.057	0.37452	T	0.3099596069436688	0.40780	0.088	0.17317	B	.;.	.;.	2.750442	0.36054	20.1	0.99847061573211404	0.92663	0.33027	0.24728	N	AEFDIJ	0.139222	0.26075	N	0.0506207718956736	0.44171	2.696058	0.124801669836326	0.45821	2.838526	0.0122582802688855	0.12301	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	0.920000	0.28325	8.686000	0.78060	0.676000	0.76740	0.065000	0.21925	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8505:0.1495	14.268	0.65682	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	488.98	33	chr2	214934127	.	G	A	488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.102;DP=731;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.720;SOR=0.895	GT:AD:DP:GQ:PL	0/1:25,20:45:99:503,0,674	20	0	1	0
chr2	218814752	218814752	G	A	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon8:c.G1471A:p.A491T,	Cerebrotendinous xanthomatosis, Autosomal recessive	YES	1	1517	3	1	0	5	0.00164528	.	.	588867	not_provided|Cholestanol_storage_disease	MedGen:C3661900|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.17	B	0.053	B	0.677	N	0.945	N	0.75	N	-0.61	T	-0.933	T	0.136	T	0.145	2.602	14.66	-6.59	-0.802	-0.231	8.411	0.150	0.0350283932694	.	.	0.0002	9.86e-05	8.666e-05	0	0	6.029e-05	0.0011	0.0014	0.0002005	31	154602	rs72551323	0.0001	0.0001	9.665e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	4.676e-05	0.0001	0.0016	5.253e-05	5.249e-05	1.285e-05	9.399e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	0	0	0.0002	0	0	4.411e-05	0	0.0008	0.186	0.21467	T	0.856	0.03447	T	0.17	0.28703	B	0.053	0.25678	B	0.676874	0.10292	N	0.865163	0.945027	0.26673	N	0.405	0.12330	N	-0.61	0.71779	T	-1.02	0.26843	N	0.124	0.11626	-0.9334	0.43636	T	0.136	0.45203	T	10	0.040766925	0.02674	T	0.035028	0.56072	D	0.150	0.39571	0.703	0.83962	0.548274029423	0.54483	0.6164338760507196	0.61575	0.18806904077	0.21130	0.286449611187	0.08407	T	0.271663	0.64401	T	-0.470155	0.00848	T	-0.4782	0.24638	T	0.0231964028690463	0.01046	T	0.749925	0.37107	T	0.05457275	0.10490	0.07379493	0.16076	0.05457275	0.10489	0.07379493	0.16075	-3.884	0.22062	T	.	.	0.068	0.02894	B	.	.	0.901670	0.12757	9.275	0.97515636428330377	0.34373	0.15099	0.18744	N	AEFDBI	0.631413	0.61240	D	-0.984637699777554	0.08931	0.4206902	-0.983030221775649	0.10166	0.5103083	0.947871977666594	0.27774	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.25	-6.59	0.01663	-0.570000	0.05986	0.483000	0.18825	0.676000	0.76740	0.000000	0.06391	0.977000	0.30130	0.948000	0.49324	0.1032:0.0:0.4554:0.4414	8.411	0.31801	877	0.30165	.	.	.	.	.	.	Likely benign	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	1	0	0.02381	2151.98	33	chr2	218814752	.	G	A	2151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.301e+00;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.55;ReadPosRankSum=-1.115e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:54,76:130:99:2166,0,1454	20	0	1	0
chr2	232819834	232819834	C	T	exonic	GIGYF2	.	nonsynonymous SNV	GIGYF2:NM_001103148:exon20:c.C2360T:p.A787V	.	YES	3	1518	0	1	0	2	0.000658328	.	.	213536	Parkinson_disease_11,_autosomal_dominant,_susceptibility_to|not_provided	MONDO:MONDO:0011896,MedGen:C4083045,OMIM:607688,Orphanet:411602|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.965	D	0.722	P	0.000	D	1.000	D	1.245	L	-1.05	T	-0.209	T	0.448	T	0.381	3.660	18.60	5.04	2.333	6.007	18.385	0.361	0.0940817379065	.	.	2.61e-05	0	0	0	0	4.74e-05	0	0	2.59e-05	4	154602	rs748538823	5.936e-05	6.668e-05	6.085e-05	5.786e-05	0.0059	4.756e-05	4.352e-05	0.0041	0.0035	8.053e-05	0.0001	5.804e-05	0	0	0.0059	3.389e-05	0.0001	2.469e-05	5.961e-05	6.407e-05	3.148e-05	9.276e-05	0.0003	2.773e-05	1.889e-05	3.158e-05	2.012e-05	0	0	0.0001	0	0	0	0	8.077e-05	0	0.0003	0.043	0.46513	D	0.25	0.24123	T	0.888	0.48822	P	0.3	0.41053	B	0.000000	0.84330	D	0.051269	0.999999	0.58761	D	.	.	.	-1.05	0.76690	T	-0.92	0.27669	N	0.507	0.53884	-0.2087	0.77447	T	0.448	0.78336	T	10	0.31536648	0.48969	T	0.094082	0.76188	D	0.361	0.68141	.	.	0.292174397486	0.28832	0.1570317945368268	0.15624	0.302835185573	0.32607	0.783016264439	0.79384	T	0.12152	0.44453	T	-0.0871847	0.38541	T	-0.176474	0.56848	T	0.341248321631318	0.26673	T	0.948505	0.92647	D	0.3058027	0.53420	0.19343862	0.42913	0.26395226	0.49461	0.16504398	0.38201	-6.648	0.51418	T	.	.	0.194	0.42834	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.721988	0.75965	26.4	0.99710176912624282	0.81283	0.99464	0.96353	D	AEFBI	0.726708	0.67528	D	0.353107381105094	0.58902	4.065608	0.411998168311791	0.62312	4.44446	0.999999893934508	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.04	5.04	0.67293	5.062000	0.64156	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.385	0.90408	810	0.42761	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025	731.33	66	chr2	232819834	.	C	T	731.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.172e+00;DP=1231;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-8.150e-01;SOR=0.732	GT:AD:DP:GQ:PL	0/1:27,25:52:99:745,0,891	19	0	1	1
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29369.66	106	chr2	233681881	.	T	G	29369.66	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.495e+00;DP=2097;ExcessHet=5.3459;FS=0.570;InbreedingCoeff=-0.2381;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=0.162;SOR=0.757	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3374,333,0	4	4	13	0
chr2	233757013	233757013	T	G	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	YES	1175	190	33	124	0	281	0.425113	.	.	27327	UGT1A9-related_disorder|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome_type_1|Crigler-Najjar_syndrome,_type_II|Gilbert_syndrome,_susceptibility_to|Gilbert_syndrome|not_provided	.|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C4016425|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2549.36	2	chr2	233757013	.	T	G	2549.36	.	AC=8;AF=0.500;AN=16;BaseQRankSum=0.842;DP=112;ExcessHet=0.0237;FS=0.000;InbreedingCoeff=0.1813;MLEAC=15;MLEAF=0.938;MQ=60.00;MQRankSum=0.00;QD=26.01;ReadPosRankSum=0.967;SOR=0.826	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	3	2	13
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Irinotecan_response|not_provided|not_specified|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome_type_1|Gilbert_syndrome|Crigler-Najjar_syndrome,_type_II|Bilirubin,_serum_level_of,_quantitative_trait_locus_1	MedGen:CN077989|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	5490.5	20	chr2	233760233	.	C	CAT	5490.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-8.570e-01;DP=432;ExcessHet=1.5101;FS=24.371;InbreedingCoeff=-0.0101;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=21.45;ReadPosRankSum=0.00;SOR=0.091	GT:AD:DP:GQ:PL	0/1:7,14:21:99:459,0,200	8	3	10	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	7075.96	9	chr3	27721936	.	G	GCGGCGC,GCGC	7075.96	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-5.120e-01;DP=481;ExcessHet=3.4384;FS=3.062;InbreedingCoeff=-0.1455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=22.18;ReadPosRankSum=-4.110e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:11,12,0:23:99:450,0,418,483,454,937	5	3	12	0
chr3	87259754	87259754	-	A	UTR3	POU1F1	NM_000306:c.*139_*140insT;NM_001122757:c.*139_*140insT	.	.	Pituitary hormone deficiency, combined, 1, Autosomal recessive, Autosomal dominant	.	804	554	68	85	11	249	0.17682	.	.	296319	Combined_Pituitary_Hormone_Deficiency,_Recessive|Frontotemporal_dementia	MedGen:CN239344|Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0213658	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1301058822	0.0204	0.0247	0.0212	0.0196	0.0427	0.0200	0.0199	0.0398	0.0387	0.0427	0.0192	0.0069	0.0076	0.0241	0.0199	0.0227	0.0216	0.0083	0.0258	0.0258	0.0260	0.0255	0.0387	0.0251	0.0248	0.0371	0.0365	0.0387	0.0011	0.0222	0.0078	0.0044	0.0254	0.0204	0.0229	0.0252	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	1595.07	6	chr3	87259754	.	T	A,TA	1595.07	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-9.920e-01;DP=185;ExcessHet=0.0006;FS=2.244;InbreedingCoeff=0.4596;MLEAC=11,2;MLEAF=0.289,0.053;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.00;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,3,0:7:66:.:.:66,0,150,80,119,190	11	4	3	2
chr3	98585475	98585475	G	C	exonic	CPOX	.	nonsynonymous SNV	CPOX:NM_000097:exon5:c.C1138G:p.Q380E,	Coproporphyria, Autosomal dominant;Harderoporphyria, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	889804	Hereditary_coproporphyria|not_provided	MONDO:MONDO:0007369,MedGen:C0162531,OMIM:121300,Orphanet:79273|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	D	0.854	N	-0.89	N	-3.06	D	-0.659	T	0.364	T	0.112	0.147	4.792	5.03	1.484	3.634	10.132	0.242	0.0106727827972	.	.	6.642e-05	0	0	0.0003	0	7.565e-05	0	0	5.17e-05	8	154602	rs201231166	4.584e-05	4.583e-05	4.901e-05	4.263e-05	0.0005	3.662e-05	3.348e-05	0.0003	0.0003	0	2.236e-05	0.0005	0.0005	0	0.0002	2.249e-05	3.313e-05	5.797e-05	3.942e-05	3.937e-05	1.285e-05	6.719e-05	0.0004	1.715e-05	1.129e-05	6.84e-05	2.862e-05	0	0	0	0	0.0004	0	0	5.881e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.000004	0.62929	D	0.103834	0.854182	0.28452	N	-0.71	0.01811	N	-3.06	0.92457	D	0.31	0.04022	N	0.106	0.09066	-0.6593	0.62307	T	0.364	0.72522	T	10	0.052722216	0.05350	T	0.010673	0.27473	T	0.242	0.54781	0.399	0.42753	0.887633965512	0.88653	0.26210163392497643	0.26123	0.567486449142	0.53010	0.291867256165	0.09194	T	0.108485	0.42156	T	-0.29288	0.09349	T	-0.349611	0.39250	T	0.0159110594024215	0.00376	T	0.845215	0.52386	T	0.18898988	0.40421	0.123694345	0.29825	0.18898988	0.40421	0.123694345	0.29824	-1.937	0.02952	T	0.06624584877900486	0.02244	0.055	0.00382	B	.;.	.;.	1.572756	0.20133	14.60	0.83484039459108028	0.14751	0.86673	0.46004	D	ALL	0.289179	0.40089	N	-0.480809672790579	0.22711	1.214564	-0.186420702594028	0.32034	1.818615	1.0	0.98316	0.706548	0.73137	0	0.581341	0.33841	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.9	5.03	0.67015	3.707000	0.54568	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1481:0.6983:0.1536	10.132	0.41857	487	0.76954	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3106.98	33	chr3	98585475	.	G	C	3106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.577e+00;DP=944;ExcessHet=0.0000;FS=5.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.505;SOR=0.994	GT:AD:DP:GQ:PL	0/1:124,127:251:99:3121,0,3358	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,9:64:23:0|1:128055734_T_C:23,0,1907:128055734	7	0	14	0
chr3	128813605	128813605	A	G	UTR3	RAB7A	NM_004637:c.*183A>G	.	.	Charcot-Marie-Tooth disease, type 2B, Autosomal dominant	.	270	1019	118	16	99	249	0.0685558	.	.	292532	not_provided|Charcot-Marie-Tooth_disease_type_2B	MedGen:CN517202|MONDO:MONDO:0010949,MedGen:C1833219,OMIM:600882,Orphanet:99936	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032273	84	26028	rs774054837	0.0632	0.0495	0.0625	0.0639	0.1123	0.0625	0.0622	0.1022	0.0983	0.0134	0.0332	0.0802	0.0007	0.0519	0.1123	0.0751	0.0637	0.0593	0.0339	0.0338	0.0344	0.0333	0.0513	0.0331	0.0328	0.0499	0.0493	0.0087	0.0275	0.0295	0.0527	0.0004	0.0314	0.0586	0.0513	0.0359	0.0433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	761.01	4	chr3	128813605	.	A	G,*	761.01	.	AC=5,1;AF=0.139,0.028;AN=36;BaseQRankSum=0.703;DP=157;ExcessHet=2.0135;FS=1.404;InbreedingCoeff=-0.2508;MLEAC=6,1;MLEAF=0.167,0.028;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=-4.140e-01;SOR=0.450	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,3,0:9:99:0|1:128813603_G_A:108,0,232,126,241,367:128813603	12	0	5	3
chr3	149141200	149141200	-	TT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293180	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0874	0.2678	0.0623	0.0136	0.0567	0.0669	0.0866	0.1206	0.0001153	3	26028	rs111598115	0.0494	0.0561	0.0489	0.0500	0.2238	0.0491	0.0490	0.2194	0.2175	0.2238	0.0419	0.0374	0.0039	0.0417	0.0609	0.0441	0.0556	0.0824	0.0888	0.0889	0.0892	0.0882	0.2303	0.0875	0.0869	0.2264	0.2248	0.2303	0.0271	0.0446	0.0315	0	0.0337	0.0292	0.0341	0.0674	0.0505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/3:222,5,15,54,62:376:99:3184,2742,10036,1451,9418,10599,0,7919,9115,9164,149,7932,8977,8309,9375	5	0	0	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	289084	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1528	0.0855	0.1686	0.1749	0.2173	0.1539	0.1706	0.1422	0.0001153	3	26028	rs111598115	0.1433	0.1582	0.1438	0.1429	0.1571	0.1428	0.1426	0.1536	0.1522	0.0970	0.1463	0.1186	0.1571	0.1933	0.0911	0.1440	0.1425	0.1265	0.1545	0.1568	0.1526	0.1565	0.1932	0.1528	0.1521	0.1873	0.1848	0.1476	0.0835	0.1932	0.1594	0.1759	0.2204	0.1434	0.1430	0.1580	0.1278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/3:222,5,15,54,62:376:99:3184,2742,10036,1451,9418,10599,0,7919,9115,9164,149,7932,8977,8309,9375	5	0	0	0
chr3	149141200	149141200	-	TTTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293178	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0744	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/3:222,5,15,54,62:376:99:3184,2742,10036,1451,9418,10599,0,7919,9115,9164,149,7932,8977,8309,9375	5	0	0	0
chr3	149172318	149172318	-	CTCACACA	UTR3	HPS3	NM_001308258:c.*96_*97insCTCACACA;NM_032383:c.*96_*97insCTCACACA	.	.	Hermansky-Pudlak syndrome 3	.	434	884	31	28	145	232	0.0469003	.	.	289085	not_provided|Hermansky-Pudlak_syndrome	MedGen:CN517202|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041494	108	26028	rs374839757	0.0470	0.0259	0.0407	0.0524	0.1219	0.0465	0.0463	0.1194	0.1183	0.0082	0.0199	0.0430	0.0037	0.0244	0.0376	0.0428	0.0427	0.1219	0.0473	0.0460	0.0471	0.0474	0.1446	0.0463	0.0459	0.1354	0.1317	0.0112	0.0195	0.0419	0.0634	0.0071	0.0295	0.0625	0.0679	0.0509	0.1446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2465.44	14	chr3	149172318	.	TCA	TCTCACACACA,T,TCACACACACACACACA,TCACACA,TCACACACA	2465.44	.	AC=4,4,4,3,2;AF=0.095,0.095,0.095,0.071,0.048;AN=42;BaseQRankSum=0.00;DP=284;ExcessHet=0.1324;FS=9.143;InbreedingCoeff=0.2537;MLEAC=4,4,3,2,2;MLEAF=0.095,0.095,0.071,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=22.41;ReadPosRankSum=-5.240e-01;SOR=2.033	GT:AD:DP:GQ:PL	2/5:0,0,3,0,0,3:8:99:266,269,311,125,167,153,269,311,167,311,269,311,167,311,311,141,144,0,144,144,132	9	0	3	0
chr4	1002767	1002767	G	C	exonic	IDUA	.	nonsynonymous SNV	IDUA:NM_001363576:exon8:c.G829C:p.G277R	Mucopolysaccharidosis Ih, Autosomal recessive;Mucopolysaccharidosis Ih/s, Autosomal recessive;Mucopolysaccharidosis Is, Autosomal recessive	YES	6	1513	3	0	0	3	0.000990426	.	.	26950	not_provided|not_specified|Hurler_syndrome|Mucopolysaccharidosis_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014,Orphanet:93473|MONDO:MONDO:0001586,MedGen:C0023786,Orphanet:579	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.36	T	0.993	D	0.973	D	0.074	N	0.000	A	2.045	M	-3.45	D	0.155	D	0.494	T	0.508	1.174	9.776	2.74	0.911	1.772	6.556	0.466	.	0.0098	0.014976	0.0033	0.0766	0	0.0231	.	0.0043	0	0.0001	0.0013001	201	154602	rs11934801	0.0020	0.0021	0.0023	0.0018	0.0561	0.0020	0.0020	0.0537	0.0528	0.0561	0.0051	0.0070	0.0103	2.994e-05	0.0038	0.0002	0.0059	0.0001	0.0184	0.0183	0.0192	0.0175	0.0593	0.0178	0.0176	0.0573	0.0565	0.0593	0	0.0106	0.0092	0.0163	0	0.0035	0.0005	0.0128	0.0008	0.088	0.32296	T	0.121	0.35840	T	0.953	0.54283	P	0.61	0.51087	P	0.074313	0.21292	N	0.430847	2.72229e-07	0.08975	A	1.59	0.40313	L	-3.45	0.94469	D	-2.8	0.65397	D	0.238	0.26837	0.155	0.85145	D	0.494	0.80820	T	9	0.030357838	0.01162	T	.	.	.	0.466	0.76156	.	.	0.989122971539	0.98899	0.5931592441387654	0.59245	0.319559851573	0.34159	0.822312295437	0.85382	D	0.827054	0.95832	D	-0.231464	0.16456	T	-0.0642785	0.66031	T	0.0274965318393337	0.01615	T	0.717128	0.32987	T	0.25828615	0.48877	0.1841162	0.41443	0.15177767	0.34486	0.14671749	0.34748	-6.514	0.50394	T	0.17804323146174109	0.22800	0.180	0.39134	B	.;.	.;.	2.343526	0.30033	18.31	0.93107115272743401	0.22737	0.53925	0.29490	D	AEFBCI	0.172426	0.29946	N	-0.0850917979310571	0.38045	2.22241	-0.251473965145863	0.29720	1.66742	0.78148204886256	0.23851	0.676563	0.55306	0	0.694456	0.67091	0	0.619478	0.44681	0	0.600526	0.37237	0	.	.	4.62	2.74	0.31352	0.768000	0.26252	.	.	0.604000	0.46097	0.096000	0.22710	1.000000	0.68203	0.001000	0.02609	0.0998:0.0:0.7215:0.1787	6.556	0.21656	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	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	1	0	0.02381	727.98	31	chr4	1002767	.	G	C	727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.600e-02;DP=706;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.93;ReadPosRankSum=-7.290e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:16,27:43:99:742,0,397	20	0	1	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	.	0	306	693	523	0	1739	0.739685	.	.	54598	Wolfram_syndrome_1|WFS1-Related_Spectrum_Disorders|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_specified|not_provided	MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MedGen:CN239410|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.5952	97164.78	225	chr4	6300980	.	C	T	97164.78	.	AC=25;AF=0.595;AN=42;BaseQRankSum=-2.344e+00;DP=4951;ExcessHet=0.6491;FS=0.000;InbreedingCoeff=0.1106;MLEAC=25;MLEAF=0.595;MQ=60.00;MQRankSum=0.00;QD=22.36;ReadPosRankSum=0.497;SOR=0.715	GT:AD:DP:GQ:PL	0/1:120,132:252:99:3760,0,3488	4	8	9	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	YES	10	265	679	568	0	1815	0.773987	.	.	54604	not_specified|Type_2_diabetes_mellitus|WFS1-Related_Spectrum_Disorders|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided	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:CN239410|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.5952	70076.78	204	chr4	6301295	.	C	T	70076.78	.	AC=25;AF=0.595;AN=42;BaseQRankSum=2.07;DP=3793;ExcessHet=0.6491;FS=0.000;InbreedingCoeff=0.1106;MLEAC=25;MLEAF=0.595;MQ=60.00;MQRankSum=0.00;QD=21.54;ReadPosRankSum=0.392;SOR=0.690	GT:AD:DP:GQ:PL	0/1:97,66:163:99:1844,0,2642	4	8	9	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	Hereditary_attention_deficit-hyperactivity_disorder|not_provided	MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37216.98	130	chr4	9783510	.	T	C	37216.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=0.351;DP=1956;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=59.95;MQRankSum=0.00;QD=21.71;ReadPosRankSum=-2.420e-01;SOR=0.721	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3621,342,0	5	7	9	0
chr4	71486986	71486986	G	A	exonic	SLC4A4	.	nonsynonymous SNV	SLC4A4:NM_003759:exon12:c.G1810A:p.E604K	Renal tubular acidosis, proximal, with ocular abnormalities, Autosomal recessive	.	4	1510	8	0	0	8	0.00264201	.	.	299374	Autosomal_recessive_proximal_renal_tubular_acidosis|SLC4A4-related_disorder|not_provided	MONDO:MONDO:0011422,MedGen:C1970309,OMIM:604278,Orphanet:93607|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.92	T	0.007	B	0.003	B	0.219	N	1.000	N	0.55	N	-0.73	T	-0.972	T	0.141	T	0.287	-1.156	0.099	3.43	1.448	1.744	4.874	0.106	0.0298721423589	0.0010	0.000798722	0.0006	0.0003	0.0004	0	0	0.0008	0.0055	0	0.0005369	83	154602	rs145378038	0.0005	0.0005	0.0005	0.0005	0.0084	0.0005	0.0004	0.0065	0.0058	0.0007	0.0012	0.0049	2.534e-05	1.876e-05	0.0084	0.0003	0.0010	0.0001	0.0010	0.0010	0.0009	0.0010	0.0046	0.0008	0.0008	0.0037	0.0034	0.0002	0	0.0046	0.0075	0	0	0	0.0005	0.0024	0.0002	0.82	0.03696	T	0.833	0.03863	T	0.0	0.14184	B	0.001	0.08700	B	0.219375	0.16175	N	0.600177	1	0.08975	N	0.345	0.11182	N	-1.1	0.77336	T	-0.82	0.22508	N	0.471	0.50778	-0.9720	0.36776	T	0.141	0.46091	T	10	0.006279379	0.00142	T	0.029872	0.52294	D	0.106	0.30130	.	.	0.310597465726	0.30670	0.7448526558527874	0.74431	0.591792601973	0.54603	0.371115744114	0.20992	T	0.329032	0.69938	T	-0.384934	0.02899	T	-0.371259	0.36743	T	0.00713112017665689	0.00081	T	0.826217	0.48957	T	0.07781478	0.17684	0.073392235	0.15944	0.06422923	0.13606	0.054041848	0.09218	-4.556	0.31932	T	.	.	0.083	0.09288	B	.;.;.;.;.	.;.;.;.;.	1.642277	0.20957	14.99	0.50640343450788738	0.04420	0.04691	0.10376	N	AEFBI	0.096412	0.19464	N	-0.797935580826612	0.13364	0.6577997	-0.706285726043816	0.16803	0.890665	0.0202894808128293	0.13243	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	3.43	0.38372	1.838000	0.38851	7.212000	0.57825	0.676000	0.76740	0.027000	0.20232	1.000000	0.68203	0.082000	0.17360	0.1364:0.2187:0.6449:0.0	4.874	0.13006	703	0.57489	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;.;.	.	.	.	.	.	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	0.02381	506.98	33	chr4	71486986	.	G	A	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.785e+00;DP=728;ExcessHet=0.0000;FS=1.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.681;SOR=1.085	GT:AD:DP:GQ:PL	0/1:22,22:44:99:521,0,644	20	0	1	0
chr4	76213464	76213464	C	T	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon1:c.G80A:p.R27Q	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	201798	not_provided|Inborn_genetic_diseases|Progressive_myoclonic_epilepsy|Childhood_epilepsy_with_centrotemporal_spikes|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.998	D	0.988	D	0.141	N	0.870	N	0.09	N	-0.58	T	-0.735	T	0.299	T	0.748	2.893	15.64	4.62	2.411	1.530	12.822	0.370	0.0900206137417	7.7e-05	.	0.0002	0	0	0	0	0.0002	0.0032	0.0002	0.0001294	20	154602	rs368906199	0.0002	0.0002	0.0002	0.0002	0.0120	0.0002	0.0002	0.0097	0.0089	5.984e-05	6.779e-05	0.0020	0	0	0.0120	8.376e-05	0.0005	0.0002	9.196e-05	9.192e-05	6.421e-05	0.0001	0.0002	5.526e-05	4.363e-05	5.841e-05	4.238e-05	2.412e-05	0	0	0.0012	0	0	0	0.0001	0	0.0002	0.679	0.05121	T	0.692	0.08332	T	0.568	0.38507	P	0.083	0.29179	B	0.141406	0.18277	N	0.580589	0.870411	0.35552	D	0.675	0.16386	N	-0.58	0.71425	T	0.07	0.06138	N	0.326	0.49420	-0.7352	0.58700	T	0.299	0.67036	T	10	0.077613324	0.12270	T	0.090021	0.75438	D	0.370	0.68930	.	.	0.69196344514	0.68931	0.16489523423882382	0.16409	0.321751381085	0.34373	0.448234736919	0.31703	T	0.08167	0.36652	T	-0.0556206	0.43588	T	-0.0810031	0.64830	T	0.134703749527047	0.15810	T	0.907809	0.70989	D	0.16476555	0.36705	0.15431039	0.36221	0.16476555	0.36705	0.15431039	0.36220	-2.935	0.14936	T	0.08221634980531804	0.04322	0.112	0.26451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.070587	0.41274	21.3	0.99713872933179437	0.81563	0.43081	0.27019	N	ALL	0.284224	0.39714	N	0.10683354842216	0.46782	2.913309	0.20332395547603	0.50031	3.19952	0.999999999830712	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.62	4.62	0.56946	1.119000	0.30872	3.825000	0.39969	0.596000	0.33519	0.960000	0.33603	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	12.822	0.57079	891	0.26808	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	805.98	34	chr4	76213464	.	C	T	805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.42;DP=810;ExcessHet=0.0000;FS=1.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.98;ReadPosRankSum=1.27;SOR=0.991	GT:AD:DP:GQ:PL	0/1:70,31:101:99:820,0,1704	20	0	1	0
chr4	177442342	177442342	C	A	exonic	AGA	.	nonsynonymous SNV	AGA:NM_000027:exon1:c.G34T:p.V12L	Aspartylglucosaminuria, Autosomal recessive	.	0	1461	58	3	0	64	0.0214334	.	.	186679	Aspartylglucosaminuria|not_provided	Human_Phenotype_Ontology:HP:0012068,MONDO:MONDO:0008830,MedGen:C0268225,OMIM:208400,Orphanet:93|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.85	T	0.002	B	0.005	B	0.104	N	1.000	N	-0.92	N	-2.29	D	-0.753	T	0.064	T	0.034	1.137	9.632	-7.23	-1.067	-1.450	2.766	0.232	.	0.0189	0.00858626	0.0145	0.0057	0.0100	0	0.0059	0.0220	0.0191	0.0040	0.0151033	2335	154602	rs74626221	0.0208	0.0208	0.0211	0.0205	0.0251	0.0206	0.0205	0.0242	0.0241	0.0037	0.0127	0.0209	2.519e-05	0.0054	0.0251	0.0244	0.0202	0.0043	0.0150	0.0150	0.0161	0.0138	0.0232	0.0145	0.0143	0.0223	0.0219	0.0040	0.0899	0.0177	0.0222	0	0.0032	0.0408	0.0232	0.0237	0.0019	0.705	0.04107	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.104259	0.02577	N	1.841070	1	0.08975	N	-0.71	0.01811	N	-2.29	0.87591	D	0.17	0.05125	N	0.068	0.04072	-0.7528	0.57789	T	0.064	0.26456	T	10	0.0030047	0.00049	T	.	.	.	0.232	0.53354	0.786	0.90919	.	.	0.40032689130767624	0.39947	0.105541606431	0.11935	0.445197731256	0.31288	T	0.08675	0.37793	T	-0.553691	0.00277	T	-0.549191	0.17403	T	0.00613695552967464	0.00068	T	0.39826	0.10085	T	0.039783638	0.05556	0.03758873	0.03444	0.03924965	0.05385	0.04222608	0.04979	-1.805	0.02524	T	.	.	0.061	0.01109	B	.	.	-0.432453	0.02094	0.196	0.64634276115429778	0.07548	0.03282	0.08327	N	ALL	0.061157	0.11672	N	-1.5905167675092	0.01312	0.05715859	-1.61182326824795	0.01585	0.07187143	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.28	-7.23	0.01331	-1.742000	0.01934	-3.020000	0.03134	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2501:0.1183:0.4264:0.2053	2.766	0.04992	966	0.07191	.	RP11-130F10.1|RP11-130F10.1|RP11-130F10.1|RP11-130F10.1|RP11-130F10.1|RP11-130F10.1|RP11-130F10.1|RP11-130F10.1|RP11-130F10.1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Cells_Cultured_fibroblasts|Colon_Sigmoid|Esophagus_Muscularis|Lung|Thyroid	.	.	rs74626221	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	1	0	0.02381	904.98	38	chr4	177442342	.	C	A	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=787;ExcessHet=0.0000;FS=3.248;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.474;SOR=0.705	GT:AD:DP:GQ:PL	0/1:34,35:69:99:919,0,830	20	0	1	0
chr4	186271603	186271603	T	C	intronic	F11	.	.	.	Factor XI deficiency, autosomal dominant;Factor XI deficiency, autosomal recessive	.	0	1520	2	0	0	2	0.000657462	0.0001	0.014	891781	Plasma_factor_XI_deficiency|Hereditary_factor_XI_deficiency_disease|not_provided	.|MONDO:MONDO:0012897,MeSH:D005173,MedGen:C0015523,OMIM:612416,Orphanet:329|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	6.591e-05	0	0	0	0	8.993e-05	0	0.0001	8.41e-05	13	154602	rs374122923	9.577e-05	9.577e-05	0.0001	8.663e-05	0.0002	8.242e-05	7.783e-05	9.292e-05	8.699e-05	0	0	0	0	0	0.0002	0.0001	0.0002	9.275e-05	5.258e-05	5.254e-05	5.14e-05	5.381e-05	0.0002	2.558e-05	1.83e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.35e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1549.98	34	chr4	186271603	.	T	C	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-5.080e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:60,52:112:99:1564,0,1552	20	0	1	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	not_provided|Leigh_syndrome|Pheochromocytoma|SDHA-related_disorder|Paragangliomas_5|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|.|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	5151.27	33	chr5	256319	.	ACT	A	5151.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.497e+00;DP=2519;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=58.10;MQRankSum=-1.235e+01;QD=2.88;ReadPosRankSum=0.434;SOR=0.810	GT:AD:DP:GQ:PL	0/1:142,12:154:76:76,0,5904	10	0	11	0
chr5	1221218	1221218	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon11:c.G1606A:p.V536M,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	1	1516	5	0	0	5	0.00164636	.	.	984670	Neutral_1_amino_acid_transport_defect|not_provided	MONDO:MONDO:0009324,MedGen:C0018609,OMIM:234500,Orphanet:2116|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.988	D	0.816	P	0.001	D	0.876	D	3.105	M	-0.93	T	0.425	D	0.579	D	0.318	1.471	10.86	2.98	0.432	1.185	15.6	0.419	0.112026900132	0.0004	0.000798722	0.0003	0.0009	0.0004	0	0.0002	0.0002	0	0.0002	0.0002393	37	154602	rs145250153	0.0001	0.0001	0.0001	0.0001	0.0035	0.0001	0.0001	0.0023	0.0019	0.0006	0.0003	3.826e-05	2.519e-05	5.618e-05	0.0035	8.363e-05	0.0002	0.0002	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0006	0.0005	0.0008	0	0.0002	0	0.0002	0	0.0034	0.0002	0.0009	0.0004	0.143	0.25355	T	0.05	0.48080	T	0.988	0.62325	D	0.816	0.58888	P	0.000796	0.41772	D	0.197004	0.875544	0.35647	D	3.435	0.92070	M	-0.93	0.75215	T	-1.06	0.27669	N	0.35	0.39153	0.425	0.89465	D	0.579	0.84840	D	10	0.13770604	0.26194	T	0.112027	0.79002	D	0.419	0.72855	.	.	0.653542758682	0.65065	0.7271567388570918	0.72659	0.674123437688	0.59625	0.331592530012	0.15175	T	0.310985	0.68290	T	-0.30294	0.08386	T	-0.284633	0.46328	T	0.062564495471079	0.07567	T	0.971803	0.89778	D	0.30336052	0.53204	0.26478866	0.52303	0.30336052	0.53204	0.26478866	0.52302	-9.136	0.68568	D	0.6552753228967908	0.72798	0.141	0.31023	B	.	.	3.263963	0.44646	22.0	0.99633316047666143	0.76203	0.81657	0.41017	D	AEFGBI	0.375907	0.46026	N	0.263913042730704	0.54332	3.598887	0.111475274824766	0.45135	2.782076	0.99251740830081	0.32867	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.81	2.98	0.33575	0.724000	0.25624	5.701000	0.49379	-0.171000	0.11205	0.891000	0.31220	1.000000	0.68203	0.006000	0.07323	0.0:0.3891:0.6109:0.0	15.6	0.76362	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3458.11	33	chr5	1221218	.	G	A	3458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.12;DP=1029;ExcessHet=0.1072;FS=3.310;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=2.07;SOR=0.795	GT:AD:DP:GQ:PL	0/1:54,65:119:99:1668,0,1276	19	0	2	0
chr5	38528850	38528853	ACAC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	18	95	41	30	42	143	0.347079	.	.	304338	not_specified|Stuve-Wiedemann_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0911	0.0372	0.0443	0.0489	0.0192	0.1161	0.0842	0.0855	0.0001617	25	154602	rs762238623	0.0461	0.0603	0.0450	0.0472	0.0799	0.0457	0.0456	0.0721	0.0691	0.0315	0.0263	0.1433	0.0287	0.0396	0.0799	0.0450	0.0515	0.0496	0.0145	0.0146	0.0151	0.0140	0.0281	0.0140	0.0138	0.0267	0.0262	0.0281	0	0.0095	0.0479	0.0074	0.0073	0.0263	0.0077	0.0180	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	6823.62	31	chr5	38528849	.	GACAC	G,GAC,GACACAC,GACACACAC	6823.62	.	AC=2,15,2,1;AF=0.048,0.357,0.048,0.024;AN=42;BaseQRankSum=-5.370e-01;DP=895;ExcessHet=8.0185;FS=2.856;InbreedingCoeff=-0.3364;MLEAC=2,15,2,1;MLEAF=0.048,0.357,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-5.950e-01;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:20,0,9,0,0:29:99:0|1:38528849_GAC_G:211,273,1094,0,821,794,273,1094,821,1094,273,1094,821,1094,1094:38528849	4	0	0	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L,	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	.	451	281	404	386	0	1176	0.67664	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	30478.64	113	chr5	138556481	.	G	A	30478.64	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-6.300e-02;DP=1997;ExcessHet=2.0051;FS=0.541;InbreedingCoeff=-0.0476;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=17.07;ReadPosRankSum=-5.510e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1234,0,1294	5	5	11	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|not_specified|Factor_XIII,_A_subunit,_deficiency_of	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.003	B	0.002	B	0.139	N	1.000	P	-0.55	N	-0.06	T	-1.081	T	0.040	T	0.06	-0.906	0.427	5.78	2.726	2.506	12.334	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	28918.26	37	chr6	6174633	.	G	A	28918.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=2.29;DP=2169;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=17.37;ReadPosRankSum=0.505;SOR=0.737	GT:AD:DP:GQ:PL	0/1:67,86:153:99:2269,0,1533	12	2	7	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G	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	Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|not_provided|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Keratosis_palmoplantaris_striata_2|DSP-related_disorder|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|Cardiovascular_phenotype|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|.|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282	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	1	1	0.6429	175804.2	449	chr6	7585734	.	G	C	175804.2	.	AC=27;AF=0.643;AN=42;BaseQRankSum=4.06;DP=8806;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=20.84;ReadPosRankSum=0.224;SOR=0.645	GT:AD:DP:GQ:PL	0/1:218,224:442:99:6124,0,5757	1	7	13	0
chr6	16327685	16327687	TGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.Q208del	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	207394	ATXN1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs797045409	0.0424	0.0556	0.0408	0.0441	0.3444	0.0422	0.0420	0.3389	0.3366	0.0367	0.1010	0.0204	0.3444	0.0672	0.0337	0.0262	0.0548	0.1071	0.0694	0.0705	0.0647	0.0744	0.3715	0.0682	0.0677	0.3558	0.3495	0.0558	0.1998	0.1241	0.0327	0.3715	0.0848	0.0426	0.0397	0.0626	0.1442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/4:25,0,0,0,20,0:45:99:693,769,1735,769,1735,1735,769,1735,1735,1735,0,966,966,966,906,769,1735,1735,1735,966,1735	9	0	3	0
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	46	1439	32	5	0	42	0.0143836	.	.	1683144	not_provided|See_cases	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.969	D	0.572	P	0.001	D	1.000	D	1.495	L	0.5	T	-1.072	T	0.091	T	0.191	2.825	15.41	4.51	2.551	2.091	11.335	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	0.119	988.81	8	chr6	32043548	.	C	T	988.81	.	AC=5;AF=0.119;AN=42;BaseQRankSum=1.97;DP=252;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2965;MLEAC=5;MLEAF=0.119;MQ=39.42;MQRankSum=0.057;QD=17.05;ReadPosRankSum=-3.950e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:8,7:15:99:245,0,289	17	1	3	0
chr6	35499990	35499990	C	T	exonic	TULP1	.	nonsynonymous SNV	TULP1:NM_001289395:exon13:c.G1327A:p.A443T	Leber congenital amaurosis 15, Autosomal recessive;Retinitis pigmentosa 14, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	105553	not_provided|Retinitis_pigmentosa|not_specified|Leber_congenital_amaurosis_15	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0013457,MedGen:C3151206,OMIM:613843,Orphanet:65	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.734	P	0.142	B	0.288	N	1.000	N	1.37	L	-1.93	D	-0.930	T	0.197	T	0.215	1.188	9.829	2.36	0.667	0.379	8.313	0.162	0.0567281754992	0.0006	0.00139776	0.0008	0.0009	0.0026	0.0002	0	0.0006	0.0044	0.0002	0.000815	126	154602	rs141980901	0.0007	0.0007	0.0007	0.0006	0.0059	0.0006	0.0006	0.0043	0.0038	0.0018	0.0031	0	2.519e-05	1.876e-05	0.0059	0.0006	0.0018	0.0003	0.0011	0.0011	0.0010	0.0012	0.0041	0.0009	0.0009	0.0032	0.0030	0.0011	0	0.0041	0	0	0	0.0102	0.0006	0.0043	0.0004	0.37	0.28026	T	0.534	0.09965	T	0.734	0.42776	P	0.142	0.33681	B	0.288193	0.14818	N	0.693516	1	0.08975	N	1.335	0.33326	L	-1.93	0.84842	D	-0.83	0.22944	N	0.365	0.40665	-0.9297	0.44183	T	0.197	0.55244	T	10	0.00881651	0.00200	T	0.056728	0.66708	D	0.162	0.41843	.	.	0.489701598095	0.48602	0.18404921459246015	0.18323	0.569561216324	0.53133	0.38576617837	0.23071	T	0.482576	0.81066	T	-0.385306	0.02883	T	-0.33148	0.41304	T	0.0134067593708728	0.00243	T	0.685131	0.29365	T	0.17921785	0.38981	0.13358398	0.32030	0.23207025	0.45989	0.104276896	0.25040	-6.983	0.54868	T	.	.	0.087	0.15877	B	.;.;.	.;.;.	2.482076	0.32012	18.91	0.96981126134113749	0.31859	0.08946	0.14797	N	AEFBCI	0.098670	0.19877	N	-0.494951574162214	0.22246	1.186466	-0.480431832527787	0.22693	1.233857	0.999995274762245	0.74766	0.660377	0.49826	0	0.563428	0.19063	0	0.696353	0.63694	0	0.63947	0.58350	0	.	.	5.48	2.36	0.28258	-0.083000	0.11250	1.105000	0.24105	0.549000	0.26987	0.000000	0.06391	0.329000	0.24363	0.969000	0.54022	0.2937:0.5688:0.0:0.1375	8.313	0.31247	607	0.67291	.;Tubby, C-terminal;Tubby, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1109.98	36	chr6	35499990	.	C	T	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=832;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-1.003e+00;SOR=0.974	GT:AD:DP:GQ:PL	0/1:64,47:111:99:1124,0,1620	20	0	1	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	.	639	398	139	346	0	831	0.510756	.	.	300174	Peroxisome_biogenesis_disorder|Peroxisome_biogenesis_disorder_1A_(Zellweger)|PEX6_POLYMORPHISM|not_specified|not_provided	MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	4501.24	9	chr6	42963889	.	GTTTA	G	4501.24	.	AC=23;AF=0.548;AN=42;BaseQRankSum=-6.160e-01;DP=196;ExcessHet=0.0777;FS=3.019;InbreedingCoeff=0.2387;MLEAC=24;MLEAF=0.571;MQ=59.96;MQRankSum=0.00;QD=31.92;ReadPosRankSum=-1.440e+00;SOR=1.090	GT:AD:DP:GQ:PL	1/1:0,5:5:15:225,15,0	6	8	7	0
chr6	75134783	75134783	C	T	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon17:c.G1975A:p.V659I	Bethlem myopathy 2	.	425	1093	4	0	0	4	0.00182648	.	.	456707	Cataract_16_multiple_types|not_provided|Ullrich_congenital_muscular_dystrophy_2|Bethlem_myopathy_2	MONDO:MONDO:0013411,MedGen:C3808377,OMIM:613763,Orphanet:91492,Orphanet:98992,Orphanet:98993,Orphanet:98995|MedGen:C3661900|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.876	P	0.000	D	0.994	D	1.665	L	-0.51	T	-0.311	T	0.358	T	0.537	4.445	23.7	5.0	1.472	7.294	17.072	0.130	0.0238414859479	0.0002	0.000199681	0.0002	0.0002	0.0005	0	0	0.0003	0	6.058e-05	0.0002458	38	154602	rs201408175	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0011	0.0008	5.977e-05	0.0004	0	5.039e-05	0	0.0019	0.0003	0.0004	0.0002	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0004	0.0004	4.814e-05	0	0.0002	0	0	0	0.0068	0.0006	0.0014	0.0008	0.126	0.27783	T	0.011	0.70582	D	0.999	0.77913	D	0.876	0.62173	P	0.000010	0.62929	D	0.000000	0.994285	0.42226	D	2.195	0.61839	M	-0.51	0.70597	T	-0.34	0.14588	N	0.701	0.70527	-0.3107	0.74685	T	0.358	0.72053	T	10	0.39493054	0.55158	T	0.023841	0.46816	T	0.285	0.60338	.	.	0.64897399116	0.64606	0.31827002040564345	0.31740	0.516357570132	0.49524	0.619515538216	0.55661	T	0.01369	0.39643	T	-0.178368	0.23978	T	-0.166029	0.57806	T	0.0565378317417017	0.06613	T	0.874313	0.58483	D	0.06160066	0.12773	0.081540644	0.18539	0.072060905	0.16002	0.0789776	0.17737	-6.079	0.49071	T	0.6903176469557571	0.76794	0.113	0.25067	B	.;.;.;.;.	.;.;.;.;.	4.704059	0.75506	26.3	0.99842518757665588	0.92316	0.99184	0.92469	D	AEFBI	0.872378	0.79420	D	0.545039620635377	0.69781	5.40592	0.527283067243848	0.69833	5.417013	0.999999999886967	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.87	5.0	0.66209	7.376000	0.78918	7.681000	0.65292	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.873:0.127:0.0	17.072	0.86451	845	0.36510	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	860.98	33	chr6	75134783	.	C	T	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=761;ExcessHet=0.0000;FS=2.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.161;SOR=1.119	GT:AD:DP:GQ:PL	0/1:32,32:64:99:875,0,725	20	0	1	0
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	not_provided|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	8792.76	13	chr6	123548624	.	TAAA	TAAAA,TA,T	8792.76	.	AC=4,22,2;AF=0.095,0.524,0.048;AN=42;BaseQRankSum=1.10;DP=624;ExcessHet=0.4640;FS=0.510;InbreedingCoeff=0.1491;MLEAC=3,22,2;MLEAF=0.071,0.524,0.048;MQ=60.00;MQRankSum=0.00;QD=24.91;ReadPosRankSum=-2.170e-01;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,2,0,0:12:13:.:.:13,0,210,43,216,259,43,216,259,259	3	0	1	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A	.	.	426	313	516	267	0	1050	0.626492	.	.	29790	SUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.73	T	0.024	B	0.014	B	0.003	N	0.812	P	.	.	2.8	T	-0.931	T	0.008	T	0.209	1.174	9.777	3.08	0.205	2.565	9.062	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.4524	18083.6	58	chr6	159692840	.	A	G	18083.6	.	AC=19;AF=0.452;AN=42;BaseQRankSum=1.17;DP=1182;ExcessHet=2.1081;FS=0.000;InbreedingCoeff=-0.0572;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=19.59;ReadPosRankSum=0.348;SOR=0.714	GT:AD:DP:GQ:PL	0/1:32,24:56:99:753,0,971	6	4	11	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	136006	not_provided	MedGen:C3661900	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	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,46,25:71:99:1|0:170561949_GCAA_G:3725,983,737,1789,0,1576:170561949	1	1	3	2
chr7	21742157	21742157	C	T	exonic	DNAH11	.	synonymous SNV	DNAH11:NM_001277115:exon49:c.C8145T:p.N2715N,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	0	1513	8	1	0	10	0.00329381	.	.	305749	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0	0	0	0.0002	0	0.0001	0.0001552	24	154602	rs201592689	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	5.975e-05	0.0002	7.654e-05	0	1.877e-05	0.0019	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	9.697e-05	0.0002	0.0001	7.219e-05	0	0.0001	0	0	0	0	0.0002	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	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	1	0.02381	1636.98	33	chr7	21742157	.	C	T	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.70;DP=872;ExcessHet=0.0000;FS=2.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-5.630e-01;SOR=0.916	GT:AD:DP:GQ:PL	0/1:97,64:161:99:1651,0,2272	20	0	1	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	5	243	697	577	0	1851	0.792041	.	.	195811	Primary_ciliary_dyskinesia_7|not_provided|DNAH11-related_disorder	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	81624.22	113	chr7	21867834	.	G	GT	81624.22	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.110;DP=2420;ExcessHet=4.7172;FS=0.684;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=0.921;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,48:92:99:0|1:21867834_G_GT:1839,0,1690:21867834	0	12	9	0
chr7	30633897	30633898	AA	-	UTR3	GARS1	NM_001316772:c.*37_*38delAA;NM_002047:c.*37_*38delAA	.	.	.	.	338	128	20	2	1034	1058	0.0857143	.	.	311092	Distal_spinal_muscular_atrophy|Peripheral_axonal_neuropathy|not_provided|Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|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:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	0.1444	0.1211	0.1934	0.0825	0.1342	0.1377	0.1975	0.001921	50	26028	rs1264036389	0.1231	0.1309	0.1212	0.1251	0.1942	0.1226	0.1224	0.1901	0.1884	0.1278	0.0990	0.1304	0.1942	0.0985	0.1716	0.1165	0.1342	0.1800	0.1053	0.1040	0.1039	0.1069	0.2053	0.1039	0.1033	0.1943	0.1899	0.1248	0.0146	0.0971	0.0960	0.1870	0.0699	0.1181	0.0886	0.1355	0.2053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	10366.48	21	chr7	30633896	.	TAA	T,TA	10366.48	.	AC=12,18;AF=0.300,0.450;AN=40;BaseQRankSum=-5.890e-01;DP=815;ExcessHet=3.2961;FS=0.722;InbreedingCoeff=-0.2573;MLEAC=12,18;MLEAF=0.300,0.450;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.194;SOR=0.739	GT:AD:DP:GQ:PL	1/2:1,14,13:28:99:721,276,268,322,0,269	0	1	3	1
chr7	92499848	92499849	AA	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	6	11	58	125	26	334	0.933333	.	.	191766	Zellweger_spectrum_disorders|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1286	0.0604	0.1169	0.0878	0.0643	0.1272	0.1007	0.2324	0.0003458	9	26028	rs769875811	0.0771	0.1651	0.0762	0.0779	0.1028	0.0766	0.0764	0.1005	0.0995	0.0376	0.0805	0.0777	0.0503	0.0821	0.0547	0.0775	0.0760	0.1028	0.0033	0.0055	0.0035	0.0031	0.0048	0.0031	0.0030	0.0043	0.0042	0.0012	0	0.0035	0.0006	0.0002	0.0065	0	0.0048	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	22564.18	63	chr7	92499847	.	CAA	C,CA	22564.18	.	AC=1,34;AF=0.024,0.810;AN=42;BaseQRankSum=-6.040e-01;DP=1349;ExcessHet=0.2785;FS=0.000;InbreedingCoeff=0.1429;MLEAC=1,34;MLEAF=0.024,0.810;MQ=60.00;MQRankSum=0.00;QD=22.30;ReadPosRankSum=-1.160e-01;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,52:52:99:.:.:1435,1435,1435,156,156,0	1	0	0	0
chr7	103989357	103989359	GCC	-	UTR5	RELN	NM_173054:c.-1_-3delGGC;NM_005045:c.-1_-3delGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	301371	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs886061864	0.0017	0.0062	0.0017	0.0017	0.0071	0.0016	0.0016	0.0062	0.0058	0.0047	0.0071	0.0034	0.0030	0.0013	0.0015	0.0013	0.0026	0.0027	0.0016	0.0016	0.0015	0.0017	0.0040	0.0014	0.0014	0.0026	0.0025	0.0031	0	0.0022	0	0.0040	0.0003	0.0036	0.0006	0.0034	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	39463.68	54	chr7	103989356	.	TGCC	TGCCGCCGCC,T,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC	39463.68	.	AC=26,1,4,1,2;AF=0.619,0.024,0.095,0.024,0.048;AN=42;BaseQRankSum=-4.950e-01;DP=1873;ExcessHet=3.5521;FS=0.662;InbreedingCoeff=-0.2353;MLEAC=25,1,4,1,2;MLEAF=0.595,0.024,0.095,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=33.19;ReadPosRankSum=-4.170e-01;SOR=0.759	GT:AD:DP:GQ:PL	1/1:0,53,0,0,0,0:53:99:2320,158,0,2322,160,2323,2322,160,2323,2323,2322,160,2323,2323,2323,2322,160,2323,2323,2323,2323	0	9	5	0
chr7	107776442	107776442	C	T	intronic	SLC26A3	.	.	.	Diarrhea 1, secretory chloride, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	309476	not_provided|Congenital_secretory_diarrhea,_chloride_type	MedGen:C3661900|MONDO:MONDO:0008964,MedGen:C0267662,OMIM:214700,Orphanet:53689	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	0	0.0002	0	0	0.0004	0.0011	0	0.0002135	33	154602	rs367754347	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0005	0.0003	0	6.711e-05	0.0046	0	0	0.0010	3.079e-05	0.0004	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.291e-05	0	0	0.0003	0.0063	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	989.98	36	chr7	107776442	.	C	T	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.036;DP=795;ExcessHet=0.0000;FS=2.343;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=1.07;SOR=0.401	GT:AD:DP:GQ:PL	0/1:35,37:72:99:1004,0,1014	20	0	1	0
chr7	117540273	117540273	T	A	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon8:c.T1043A:p.M348K,	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	YES	0	1520	2	0	0	2	0.000657462	.	.	67841	Cystic_fibrosis|not_specified|CFTR-related_disorder|not_provided	MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.991	D	0.000	D	1.000	D	1.7	L	-2.59	D	0.694	D	0.772	D	0.985	4.705	26.1	5.39	2.156	7.584	15.694	0.927	0.736780914862	7.7e-05	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001294	20	154602	rs142920240	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	2.987e-05	0.0001	0	0	1.872e-05	0.0007	0.0001	0.0002	0	7.885e-05	8.537e-05	0.0001	5.38e-05	0.0001	4.497e-05	3.512e-05	6.805e-05	5.088e-05	0	0	0	0	0	0	0	0.0001	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.95	0.52479	M	-2.59	0.89822	D	-2.97	0.61865	D	0.94	0.94668	0.694	0.93099	D	0.772	0.92252	D	10	0.8749697	0.86782	D	0.736781	0.97887	D	0.927	0.98229	.	.	0.993634915165	0.99356	0.9814907381668324	0.98141	0.00369184875743	0.00316	0.761901021004	0.76212	T	0.818952	0.95552	D	0.243013	0.77945	D	0.396008	0.91980	D	0.254882908323187	0.23090	T	0.969703	0.89491	D	0.9475731	0.96018	0.84129494	0.90924	0.9371919	0.94962	0.8720538	0.93009	-14.652	0.94983	D	0.7992747305683549	0.87634	0.935	0.86846	P	.;.;.;.;.	.;.;.;.;.	4.493132	0.70201	25.5	0.98736765920267222	0.45437	0.98238	0.80821	D	AEFI	0.977938	0.99746	D	0.732290199300938	0.81750	7.595643	0.725768964040585	0.84334	8.263437	0.999973483006093	0.50053	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.39	5.39	0.77615	7.538000	0.80960	6.152000	0.54210	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.694	0.77239	790	0.46189	ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2202.98	36	chr7	117540273	.	T	A	2202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.614;DP=876;ExcessHet=0.0000;FS=0.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.080e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/1:90,84:174:99:2217,0,2435	20	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	not_specified|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	.	.	1.000	P	1.15	L	-3.2	D	-0.966	T	0.000	T	0.052	-0.251	2.795	-3.35	-1.287	-1.288	2.721	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.7619	57575.44	141	chr7	127611134	.	T	G	57575.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.218;DP=2509;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=23.77;ReadPosRankSum=0.240;SOR=0.702	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1643,0,1797	1	12	8	0
chr7	127611678	127611678	-	A	splicing	PAX4	NM_001366111:exon9:c.772-2->T;NM_001366110:exon11:c.772-2->T	.	.	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	.	0	212	14	0	0	14	0.0319635	.	.	301762	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0409	.	0.0308	0.0965	0.0139	0.0048	0.0169	0.0210	0.0412	0.0615	0.0002846	44	154602	rs35434068	0.0275	0.0831	0.0267	0.0282	0.1057	0.0272	0.0271	0.1023	0.1009	0.1057	0.0157	0.0122	0.0044	0.0253	0.0514	0.0244	0.0318	0.0487	0.0309	0.0305	0.0315	0.0302	0.0752	0.0301	0.0298	0.0729	0.0720	0.0752	0	0.0148	0.0066	0.0008	0.0144	0.0571	0.0133	0.0302	0.0366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1171.64	41	chr7	127611678	.	T	TA	1171.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.403;DP=1135;ExcessHet=0.3300;FS=0.623;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=6.04;ReadPosRankSum=0.123;SOR=0.612	GT:AD:DP:GQ:PL	0/1:30,26:56:99:529,0,632	18	0	3	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	2137883	Inborn_genetic_diseases|not_provided|PODXL-related_disorder	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2593.39	62	chr7	131505863	.	C	T	2593.39	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.173e+00;DP=1634;ExcessHet=17.4423;FS=182.300;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.09;ReadPosRankSum=0.956;SOR=11.937	GT:AD:DP:GQ:PL	0/1:55,18:73:91:91,0,1204	6	0	15	0
chr7	142749524	142749524	C	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon1:c.C40G:p.L14V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1184	338	0	0	338	0.124908	0	0.172	933718	not_provided|Hereditary_pancreatitis	MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.090	N	0.999	N	0.305	N	-3.18	D	-0.656	T	0.520	D	0.084	-2.546	0.003	2.43	0.685	1.840	11.878	0.221	.	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs747228052	0.0163	0.0916	0.0159	0.0166	0.0302	0.0161	0.0160	0.0284	0.0277	0.0302	0.0266	0.0367	0.0149	0.0869	0.0146	0.0136	0.0244	0.0024	0.3494	0.3861	0.3542	0.3444	0.4130	0.3464	0.3452	0.4068	0.4042	0.4130	0.3354	0.3561	0.3511	0.1063	0.3526	0.2554	0.3440	0.3432	0.1690	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.089679	0.20415	N	0.498441	0.999154	0.21565	N	-0.055	0.04927	N	-3.18	0.93111	D	1.4	0.00835	N	0.1	0.09631	-0.6563	0.62439	T	0.520	0.82091	D	10	0.09526378	0.17002	T	0.081841	0.73770	D	0.221	0.51721	.	.	0.74833783201	0.74606	0.6303402522407332	0.62968	0.16419798022	0.18528	0.351473480463	0.18139	T	0.18894	0.54300	T	-0.0866624	0.38626	T	-0.362261	0.37790	T	0.0625269785523415	0.07561	T	.	.	.	0.03509291	0.04065	0.09660669	0.22962	0.03509291	0.04065	0.09660669	0.22961	-3.639	0.18422	T	.	.	0.061	0.01042	B	.;.;.	.;.;.	0.943023	0.13190	9.689	0.10035292204727132	0.00117	0.01979	0.05984	N	AEFDBI	0.044097	0.07052	N	-0.973998565507978	0.09162	0.4324695	-0.844955323986839	0.13408	0.6954354	0.00552028722970171	0.10963	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.32	2.43	0.28797	2.003000	0.40464	.	.	-0.319000	0.05888	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.1794:0.8206:0.0	11.878	0.51835	776	0.48302	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	6566.3	235	chr7	142749524	.	C	G	6566.3	.	AC=11;AF=0.262;AN=42;BaseQRankSum=4.38;DP=4162;ExcessHet=7.7275;FS=14.002;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=58.17;MQRankSum=-1.853e+01;QD=1.81;ReadPosRankSum=-3.398e+00;SOR=2.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,26:299:99:0|1:142749506_A_G:270,0,11379:142749506	10	0	11	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	YES	0	788	734	0	0	734	0.317749	.	.	46925	Recurrent_pancreatitis|Hereditary_pancreatitis|not_provided	Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.002	B	0.019	N	0.986	N	0.825	L	-3.17	D	-0.577	T	0.542	D	0.671	0.269	5.455	0.989	0.076	0.750	7.043	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	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.3571	22149.38	121	chr7	142750561	.	C	T	22149.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.697e+00;DP=2539;ExcessHet=17.4423;FS=2.788;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=56.74;MQRankSum=-9.685e+00;QD=9.67;ReadPosRankSum=-3.250e-01;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,26:108:99:.:.:810,0,2359	6	0	15	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	.	.	.	.	.	.	.	.	0.09	T	.	.	.	.	0.017	N	1.000	A	.	.	.	.	.	.	.	.	.	2.152	13.15	2.59	0.757	0.450	12.188	.	.	.	.	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	.	.	.	.	.	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	0.3333	11579.59	103	chr7	142750680	.	C	T	11579.59	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.980e-01;DP=2593;ExcessHet=14.4320;FS=1.494;InbreedingCoeff=-0.5074;MLEAC=14;MLEAF=0.333;MQ=58.14;MQRankSum=-1.043e+01;QD=5.26;ReadPosRankSum=-1.991e+00;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,28:132:99:0|1:142750672_T_A:863,0,4255:142750672	7	0	14	0
chr7	142750700	142750700	C	T	exonic	PRSS1	.	synonymous SNV	PRSS1:NM_002769:exon2:c.C186T:p.G62G,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1392	130	0	0	130	0.0446122	.	.	1838992	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0277	0.0571	0.0080	0.0036	0.04	0.0237	0.0368	0.0486	0.0001552	24	154602	rs199713773	0.0059	0.0919	0.0046	0.0071	0.0117	0.0057	0.0057	0.0106	0.0101	0.0117	0.0076	0.0095	0.0040	0.0184	0.0041	0.0054	0.0091	0.0016	0.1047	0.2848	0.1054	0.1040	0.1897	0.1027	0.1019	0.1841	0.1818	0.1897	0.0930	0.1003	0.0786	0.0135	0.1257	0.0417	0.0817	0.0946	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2619	5354.16	84	chr7	142750700	.	C	T	5354.16	.	AC=11;AF=0.262;AN=42;BaseQRankSum=0.656;DP=1892;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3489;MLEAC=11;MLEAF=0.262;MQ=58.03;MQRankSum=-1.138e+01;QD=3.65;ReadPosRankSum=-2.976e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,23:118:99:0|1:142750691_A_G:680,0,3870:142750691	10	0	11	0
chr7	142750715	142750715	G	A	splicing	PRSS1	NM_002769:exon2:c.200+1G>A	.	.	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1452	70	0	0	70	0.0235373	1.0000	0.848	389795	Hereditary_pancreatitis|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.562	11.18	3.49	1.879	7.689	14.397	.	.	.	0.000199681	0.0168	0.0324	0.0042	0.0020	0.0238	0.0143	0.0236	0.0308	4.53e-05	7	154602	rs143909348	0.0011	0.0454	0.0008	0.0014	0.0019	0.0010	0.0010	0.0015	0.0014	0.0019	0.0005	0.0008	0.0006	0.0019	0.0014	0.0011	0.0015	2.527e-05	0.0248	0.1744	0.0235	0.0261	0.0474	0.0239	0.0236	0.0450	0.0440	0.0474	0.0224	0.0233	0.0141	0.0027	0.0353	0.0055	0.0170	0.0232	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203112	0.74183	D	0.05398	0.73846	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.670096	0.92930	33	0.99152217748706628	0.53848	0.96810	0.71061	D	AEFDBI	.	.	.	0.873327191576921	0.90394	10.38377	0.628514251622925	0.77020	6.599509	0.999995312873056	0.74766	0.087844	0.02253	0	0.085267	0.02369	0	0.106748	0.03127	0	0.075334	0.01956	0	0.824128	0.49265	3.49	3.49	0.39065	9.545000	0.97193	.	.	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	14.397	0.66584	776	0.48302	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1318.55	67	chr7	142750715	.	G	A	1318.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.58;DP=1579;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.15;MQRankSum=-1.023e+01;QD=1.75;ReadPosRankSum=-3.514e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/1:87,17:104:99:346,0,2432	14	0	7	0
chr7	154053047	154053047	A	T	exonic	DPP6	.	nonsynonymous SNV	DPP6:NM_001290253:exon1:c.A227T:p.D76V	Mental retardation, autosomal dominant 33	.	87	1370	63	2	0	67	0.0238689	.	.	247021	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.32	T	0.119	B	0.041	B	0.000	N	1.000	D	.	.	0.92	T	-1.107	T	0.086	T	0.373	0.281	5.521	1.98	0.253	1.673	8.763	0.126	.	.	0.00159744	0.0574	0	.	.	.	0.075	0	0.0357	0.0011837	183	154602	rs572667303	0.0148	0.0110	0.0149	0.0148	0.0300	0.0146	0.0145	0.0241	0.0220	0.0020	0.0145	0.0261	9.518e-05	0.0042	0.0300	0.0155	0.0146	0.0056	0.0108	0.0107	0.0116	0.0099	0.0158	0.0104	0.0102	0.0147	0.0144	0.0030	0	0.0158	0.0331	0	0.0022	0.0204	0.0155	0.0188	0.0055	0.025	0.47320	D	0.154	0.32040	T	0.119	0.26641	B	0.041	0.23986	B	0.000000	0.00162	N	7739.210000	0.935346	0.81001	D	.	.	.	0.92	0.44461	T	-0.45	0.14782	N	0.242	0.40665	-1.1072	0.03321	T	0.086	0.33354	T	9	0.0031171143	0.00052	T	.	.	.	0.126	0.34673	.	.	0.418159628064	0.41432	0.17424710242975305	0.17343	0.589955309425	0.54475	0.911425590515	0.97604	D	0.017692	0.14390	T	-0.463032	0.00941	T	-0.425566	0.30439	T	0.0210366499213472	0.00804	T	.	.	.	0.20180008	0.42203	0.14007637	0.33402	0.20180008	0.42203	0.14007637	0.33401	-6.34	0.49039	T	.	.	0.378	0.58334	A	.;.	.;.	2.754137	0.36104	20.2	0.78847230867066109	0.12479	0.61112	0.31390	D	AEFDBIJ	0.114985	0.22627	N	-0.744231118289648	0.14791	0.7397859	-0.715476853498762	0.16575	0.8775067	0.0338047295253189	0.14123	0.487112	0.14033	0	0.573888	0.26702	0	0.608004	0.38603	0	0.564101	0.26826	0	.	.	3.2	1.98	0.25351	2.408000	0.44227	7.206000	0.57810	0.519000	0.23678	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.8081:0.1919:0.0:0.0	8.763	0.33848	985	0.02828	.;.	.	.	.	.	.	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	1	0	0.04762	368.11	24	chr7	154053047	.	A	T	368.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.21;DP=651;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.83;ReadPosRankSum=0.527;SOR=0.700	GT:AD:DP:GQ:PL	0/1:17,13:30:99:317,0,383	19	0	2	0
chr8	10610127	10610127	T	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A3971G:p.E1324G,	Occult macular dystrophy, Autosomal dominant	.	2	62	35	14	113	176	0.336898	.	.	312269	not_specified|Occult_macular_dystrophy|Retinitis_pigmentosa_88|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	P	0	N	2.94	T	-0.960	T	0.013	T	0.028	0.469	6.544	-1.85	-0.966	1.133	7.767	0.034	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs4240659	0.1222	0.1328	0.1202	0.1242	0.3291	0.1216	0.1214	0.3238	0.3216	0.1195	0.1370	0.1586	0.3291	0.0992	0.1560	0.1126	0.1374	0.1283	0.1626	0.1710	0.1669	0.1580	0.3056	0.1607	0.1599	0.2926	0.2873	0.1751	0.1340	0.1808	0.1843	0.3056	0.0901	0.2045	0.1541	0.1677	0.1281	0.127	0.27080	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0.55	0.14455	N	2.94	0.09728	T	-1.26	0.31778	N	0.059	0.03069	-0.9596	0.39255	T	0.013	0.05081	T	8	0.0013740659	0.00015	T	.	.	.	0.034	0.08419	.	.	0.0551355673512	0.04727	0.09043956122950329	0.08976	.	.	0.193922996521	0.00302	T	0.036747	0.24220	T	-0.429672	0.01489	T	-0.85497	0.00899	T	0.0430045104408474	0.04238	T	0.292471	0.05369	T	0.03615358	0.04393	0.05939324	0.11139	0.03615358	0.04393	0.05939324	0.11139	-7.353	0.56572	T	.	.	0.069	0.03093	B	.	.	-0.075415	0.03791	0.799	0.55067947662932093	0.05266	0.02637	0.07234	N	AEFDBI	0.022755	0.01177	N	-1.76511400421318	0.00636	0.02744097	-1.81737224775769	0.00705	0.03140268	1.68491044415924E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.91	-1.85	0.07363	-0.294000	0.08346	-1.859000	0.04598	-2.048000	0.00420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1404:0.0:0.8596	7.767	0.28151	794	0.45591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	157707.19	230	chr8	10610127	.	T	C,TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	157707.19	.	AC=9,14;AF=0.214,0.333;AN=42;BaseQRankSum=-1.191e+00;DP=7662;ExcessHet=5.5923;FS=0.530;InbreedingCoeff=-0.2494;MLEAC=9,14;MLEAF=0.214,0.333;MQ=59.74;MQRankSum=-2.640e-01;QD=29.56;ReadPosRankSum=-2.810e-01;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,116,0:216:99:0|1:10610066_T_C:4396,0,3850,4697,4199,8896:10610066	3	1	5	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*,	Occult macular dystrophy, Autosomal dominant	.	2	62	35	14	113	176	0.336898	.	.	490785	Occult_macular_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	157707.19	230	chr8	10610127	.	T	C,TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	157707.19	.	AC=9,14;AF=0.214,0.333;AN=42;BaseQRankSum=-1.191e+00;DP=7662;ExcessHet=5.5923;FS=0.530;InbreedingCoeff=-0.2494;MLEAC=9,14;MLEAF=0.214,0.333;MQ=59.74;MQRankSum=-2.640e-01;QD=29.56;ReadPosRankSum=-2.810e-01;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,116,0:216:99:0|1:10610066_T_C:4396,0,3850,4697,4199,8896:10610066	3	1	5	0
chr8	11757066	11757066	A	G	exonic	GATA4	.	nonsynonymous SNV	GATA4:NM_001374273:exon5:c.A511G:p.S171G	Atrial septal defect 2, Autosomal dominant;Atrioventricular septal defect 4, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Ventricular septal defect 1, Autosomal dominant	.	0	1197	296	29	0	354	0.128821	.	.	53501	not_provided|Neonatal_insulin-dependent_diabetes_mellitus|Atrioventricular_septal_defect_4|not_specified|Cardiovascular_phenotype	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000857,MedGen:C3278636|MONDO:MONDO:0013747,MedGen:C3280781,OMIM:614430|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.0	B	0.051	N	0.402	P	1.32	L	-4.73	D	-0.395	T	0.047	T	0.181	1.780	11.91	0.906	0.140	0.243	1.707	0.291	.	0.1006	0.0429313	0.0962	0.0204	0.0407	0.0006	0.1405	0.1354	0.1247	0.0556	0.0944554	14603	154602	rs3729856	0.1117	0.1118	0.1118	0.1117	0.1376	0.1113	0.1111	0.1296	0.1265	0.0198	0.0459	0.1768	0.0002	0.1454	0.1376	0.1224	0.1075	0.0564	0.0885	0.0886	0.0902	0.0868	0.1342	0.0873	0.0868	0.1319	0.1310	0.0210	0.0956	0.0528	0.1842	0.0013	0.1405	0.1054	0.1342	0.0874	0.0487	0.417	0.09927	T	0.466	0.13912	T	0.0	0.02946	B	0.0	0.01387	B	0.051149	0.23008	N	0.470389	0.40175	0.32515	P	-0.205	0.04094	N	-5.31	0.98979	D	-0.39	0.13611	N	0.081	0.10198	-0.3951	0.72181	T	0.047	0.20037	T	9	0.0017141104	0.00021	T	.	.	.	0.291	0.61040	.	.	.	.	0.3989938689426625	0.39814	0.159432105992	0.17994	0.260318040848	0.04929	T	0.240558	0.71923	T	-0.414397	0.01859	T	-0.225751	0.52182	T	0.00155459552687909	0.00016	T	.	.	.	0.044084683	0.06984	0.037932515	0.03553	0.048713792	0.08535	0.042145498	0.04952	-3.894	0.22212	T	.	.	0.064	0.02765	B	.;.;.;.;.	.;.;.;.;.	0.088956	0.04932	1.505	0.97243726085723836	0.33010	0.52098	0.29051	D	AEFDBCI	0.397443	0.47351	N	-0.696719188306403	0.16115	0.8181989	-0.578649529712743	0.20049	1.078522	0.999947408581666	0.47345	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.83	0.906	0.18444	0.363000	0.20037	.	.	-1.227000	0.01331	0.799000	0.29708	0.007000	0.19602	0.104000	0.18471	0.4155:0.1484:0.3085:0.1276	1.707	0.02711	940	0.13648	.;.;.;.;.	NEIL2|FDFT1|NEIL2|FDFT1|NEIL2|NEIL2|NEIL2|BLK|RP11-148O21.6|RP11-148O21.3|RP11-148O21.4|RP11-148O21.2|NEIL2|NEIL2|NEIL2|FDFT1|FDFT1|NEIL2|FDFT1|CTSB|NEIL2|NEIL2|NEIL2|SUB1P1|NEIL2|NEIL2|TDH|FAM167A	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Whole_Blood	FDFT1|FDFT1|NEIL2	Heart_Atrial_Appendage|Lung|Skin_Sun_Exposed_Lower_leg	rs3729856	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	1	0	0.07143	2143.68	34	chr8	11757066	.	A	G	2143.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.636e+00;DP=827;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=0.142;SOR=0.700	GT:AD:DP:GQ:PL	0/1:25,23:48:99:572,0,712	18	0	3	0
chr8	27803513	27803513	-	AATA	UTR3	ESCO2	NM_001017420:c.*75_*76insAATA	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	155	1138	181	47	1	276	0.107801	.	.	308805	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0191717	499	26028	rs139887923	0.1086	0.1090	0.1063	0.1108	0.3253	0.1081	0.1079	0.3205	0.3184	0.2373	0.0853	0.1738	0.3253	0.0804	0.1595	0.0904	0.1371	0.1882	0.1556	0.1562	0.1557	0.1555	0.3660	0.1540	0.1533	0.3522	0.3466	0.2532	0.0208	0.1276	0.1760	0.3660	0.0851	0.1667	0.0980	0.1654	0.1933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	463.6	22	chr8	27803513	.	T	TAATA	463.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.063;DP=289;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.1438;MLEAC=5;MLEAF=0.132;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-3.490e-01;SOR=0.399	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	15	1	3	2
chr8	71354785	71354785	C	G	exonic	EYA1	.	nonsynonymous SNV	EYA1:NM_172058:exon2:c.G121C:p.E41Q	Anterior segment anomalies with or without cataract, Autosomal dominant;Branchiootic syndrome 1, Autosomal dominant;Branchiootorenal syndrome 1, with or without cataracts, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	244016	Renal_hypoplasia|Melnick-Fraser_syndrome	Human_Phenotype_Ontology:HP:0000089,Human_Phenotype_Ontology:HP:0001968,Human_Phenotype_Ontology:HP:0004741,Human_Phenotype_Ontology:HP:0008641,MONDO:MONDO:0019637,MedGen:C0266295,Orphanet:93101|MONDO:MONDO:0007029,MedGen:C0265234,OMIM:PS113650,Orphanet:107	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.999	D	0.956	D	0.000	D	1.000	D	0.345	N	-2.1	D	0.046	D	0.615	D	0.637	4.965	29.0	5.7	2.676	7.814	19.814	0.372	0.0482719784605	.	0.000199681	0.0005	0	8.639e-05	0	0	4.495e-05	0.0044	0.0030	0.0003816	59	154602	rs561111097	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	6.714e-05	0	0	0	0.0005	4.77e-05	0.0002	0.0024	8.538e-05	8.531e-05	6.425e-05	0.0001	0.0017	4.955e-05	3.961e-05	0.0008	0.0006	0	0	6.536e-05	0	0	0	0	4.411e-05	0.0005	0.0017	0.094	0.31383	T	0.536	0.10173	T	0.999	0.77913	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	0.999984	0.81001	D	1.1	0.28011	L	-2.1	0.86146	D	-0.55	0.18248	N	0.648	0.70615	0.046	0.83162	D	0.615	0.86397	D	10	0.018843174	0.00414	T	0.048272	0.63300	D	0.372	0.69102	0.125	0.03095	0.631644232799	0.62863	0.6533393946082489	0.65269	0.825720942332	0.67392	0.706214010715	0.68044	T	0.340669	0.70967	T	-0.167163	0.25664	T	-0.0178206	0.69172	D	0.0841902930824591	0.10514	T	0.931007	0.74900	D	0.2017262	0.42194	0.20660093	0.44881	0.20045115	0.42020	0.22437347	0.47346	-2.643	0.06837	T	0.2115258044196134	0.28361	0.212	0.47116	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.983004	0.82549	27.8	0.99731630941359817	0.82833	0.99309	0.94295	D	AEFDBI	0.943031	0.94836	D	0.513439884930484	0.67885	5.141602	0.604325851436735	0.75253	6.27806	0.999999999999997	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	7.868000	0.85503	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.814	0.96556	757	0.50970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1508.98	34	chr8	71354785	.	C	G	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.050e+00;DP=810;ExcessHet=0.0000;FS=4.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-2.960e-01;SOR=0.490	GT:AD:DP:GQ:PL	0/1:51,64:115:99:1523,0,1234	20	0	1	0
chr8	132480670	132480670	-	C	UTR5	KCNQ3	NM_004519:c.-139_-138insG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	.	75	142	3	2	4	11	0.024055	.	.	313038	Benign_neonatal_seizures|not_provided|Benign_Neonatal_Epilepsy	MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900|MedGen:C0270851	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs879019805	0.0992	0.0754	0.0988	0.0996	0.1176	0.0985	0.0982	0.1020	0.0992	0.0987	0.0472	0.0809	0.0113	0.0962	0.1176	0.1002	0.0951	0.1026	0.0916	0.0897	0.0944	0.0887	0.1035	0.0902	0.0896	0.1013	0.1004	0.0952	0.0571	0.0558	0.0762	0.0041	0.0991	0.1106	0.1035	0.0927	0.0911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2331.15	20	chr8	132480670	.	A	AC,ACC	2331.15	.	AC=7,8;AF=0.167,0.190;AN=42;BaseQRankSum=0.059;DP=417;ExcessHet=0.8717;FS=11.366;InbreedingCoeff=0.1346;MLEAC=7,8;MLEAF=0.167,0.190;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-5.200e-02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,6,0:11:99:.:.:101,0,111,116,128,244	9	0	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2331.15	20	chr8	132480670	.	A	AC,ACC	2331.15	.	AC=7,8;AF=0.167,0.190;AN=42;BaseQRankSum=0.059;DP=417;ExcessHet=0.8717;FS=11.366;InbreedingCoeff=0.1346;MLEAC=7,8;MLEAF=0.167,0.190;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-5.200e-02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,6,0:11:99:.:.:101,0,111,116,128,244	9	0	7	0
chr8	139988739	139988739	C	T	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon18:c.G2770A:p.G924S	Mental retardation, autosomal recessive 13, Autosomal recessive	.	4	1463	53	2	0	57	0.0191083	.	.	136075	not_specified|Inborn_genetic_diseases|Intellectual_Disability,_Recessive|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:CN239290|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	0.436	B	0.049	B	0.000	N	0.751	N	0.69	N	.	.	-1.052	T	0.021	T	0.252	2.273	13.56	3.29	0.446	1.679	9.085	0.042	.	0.0053	0.0129792	0.0146	0.0221	0.0076	0	0	0.0010	0.0052	0.0281	0.0026455	409	154602	rs114949291	0.0027	0.0026	0.0020	0.0035	0.0256	0.0027	0.0026	0.0247	0.0243	0.0237	0.0017	0.0035	2.798e-05	4.101e-05	0.0128	0.0005	0.0042	0.0256	0.0068	0.0068	0.0067	0.0068	0.0245	0.0064	0.0063	0.0209	0.0196	0.0185	0	0.0040	0.0035	0	0	0.0068	0.0007	0.0071	0.0245	0.209	0.19710	T	0.596	0.09588	T	0.005	0.35766	B	0.006	0.24832	B	0.000012	0.62929	N	0.114026	0.751216	0.29636	N	0.4	0.12274	N	.	.	.	-0.01	0.08033	N	0.295	0.33578	-1.0517	0.13926	T	0.021	0.08870	T	9	0.004834801	0.00103	T	.	.	.	0.042	0.11227	.	.	0.362758974969	0.35886	0.12049268189326275	0.11976	0.0848231563066	0.09583	0.331068098545	0.15096	T	0.025992	0.19327	T	-0.469245	0.00859	T	-0.42789	0.30176	T	0.0152808649358406	0.00338	T	0.811819	0.46320	T	0.03616323	0.04396	0.068118654	0.14183	0.038391553	0.05105	0.068118654	0.14182	-5.282	0.39764	T	.	.	0.091	0.13783	B	.;.;.;.	.;.;.;.	1.011054	0.13902	10.46	0.98729725598533269	0.45333	0.70043	0.34429	D	AEFDGBI	0.166247	0.29281	N	-0.0499159299800223	0.39605	2.33835	0.0126682155892763	0.40303	2.403049	0.999779627183075	0.42865	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.48	3.29	0.36801	1.772000	0.38182	-0.374000	0.09587	0.599000	0.40250	0.924000	0.32081	0.000000	0.08366	0.521000	0.29498	0.0:0.7858:0.0:0.2142	9.085	0.35738	971	0.05719	.;.;.;.	.	.	.	.	.	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	1	0	0.04762	5621.11	183	chr8	139988739	.	C	T	5621.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.29;DP=1279;ExcessHet=0.1072;FS=1.241;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.53;ReadPosRankSum=0.518;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,114:179:99:0|1:139988737_A_G:3390,0,1662:139988737	19	0	2	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	274730	not_specified|not_provided|Congenital_cerebellar_hypoplasia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	30379.9	49	chr9	2622146	.	ACGGCGGCGG	ACGGCGGCGGCGG,A	30379.9	.	AC=17,12;AF=0.405,0.286;AN=42;BaseQRankSum=0.034;DP=1277;ExcessHet=1.3217;FS=0.563;InbreedingCoeff=-0.0027;MLEAC=17,12;MLEAF=0.405,0.286;MQ=60.00;MQRankSum=0.00;QD=28.77;ReadPosRankSum=0.770;SOR=0.643	GT:AD:DP:GQ:PL	0/2:21,0,20:41:99:777,840,1701,0,861,801	2	5	5	0
chr9	108901650	108901650	C	T	exonic	ELP1	.	nonsynonymous SNV	ELP1:NM_001330749:exon15:c.G839A:p.R280H	.	YES	0	1520	2	0	0	2	0.000657462	.	.	191902	not_specified|Familial_dysautonomia|not_provided	MedGen:CN169374|MONDO:MONDO:0009131,MedGen:C0013364,OMIM:223900,Orphanet:1764|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.36	T	0.355	B	0.11	B	0.000	D	0.594	D	1.175	L	1.67	T	-1.011	T	0.050	T	0.155	2.806	15.34	4.09	0.825	4.516	7.709	0.076	0.00958433338634	0.0023	0.00119808	0.0019	0.0005	0.0013	0	0.0018	0.0028	0.0011	0.0007	0.0019146	296	154602	rs148378319	0.0027	0.0027	0.0027	0.0028	0.0031	0.0027	0.0026	0.0030	0.0030	0.0006	0.0018	0.0048	0	0.0015	0.0005	0.0031	0.0025	0.0008	0.0020	0.0020	0.0021	0.0019	0.0031	0.0018	0.0018	0.0027	0.0025	0.0006	0	0.0031	0.0026	0	0.0012	0.0034	0.0030	0.0024	0.0010	0.15	0.25355	T	0.388	0.30045	T	0.355	0.33731	B	0.11	0.31460	B	0.000001	0.62929	D	0.100213	0.594498	0.32484	D	1.61	0.41143	L	1.67	0.27331	T	-1.52	0.36980	N	0.283	0.32037	-1.0106	0.26729	T	0.050	0.21261	T	10	0.008384824	0.00190	T	0.009584	0.25062	T	0.076	0.22200	.	.	0.570372710236	0.56703	0.4569019088939758	0.45608	0.161409636425	0.18220	0.384141176939	0.22841	T	0.076169	0.35354	T	-0.513158	0.00482	T	-0.507558	0.21566	T	0.0280518462187967	0.01696	T	0.89971	0.64861	D	0.09341193	0.21940	0.06678121	0.13727	0.09341193	0.21939	0.06678121	0.13727	-7.735	0.59251	D	0.2812704806188515	0.37661	0.128	0.28319	B	.;.	.;.	3.570902	0.50292	22.9	0.99532026903583581	0.69963	0.88818	0.48931	D	AEFGBI	0.229714	0.35319	N	-0.0378548052419963	0.40147	2.379276	0.10093688058396	0.44596	2.738356	0.991422493709861	0.32484	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.94	4.09	0.47038	4.832000	0.62449	3.992000	0.40997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1616:0.7563:0.0:0.0822	7.709	0.27832	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1191.98	35	chr9	108901650	.	C	T	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=789;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.57;ReadPosRankSum=-2.830e-01;SOR=0.958	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1206,0,1466	20	0	1	0
chr9	133555922	133555922	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon11:c.C1641T:p.H547H	Geleophysic dysplasia 1, Autosomal recessive	.	4	1025	431	62	0	555	0.213052	.	.	317128	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0156143	2414	154602	rs7868941	0.1558	0.1558	0.1578	0.1537	0.2226	0.1552	0.1550	0.2120	0.2078	0.1409	0.1034	0.1845	0.0005	0.2171	0.2226	0.1673	0.1555	0.0618	0.1564	0.1566	0.1576	0.1552	0.1741	0.1547	0.1540	0.1715	0.1704	0.1426	0.2357	0.1371	0.1958	0.0010	0.2236	0.2041	0.1741	0.1776	0.0504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	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	1	0.1429	9182.03	128	chr9	133555922	.	C	T	9182.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.290e-01;DP=1318;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=0.961;SOR=0.668	GT:AD:DP:GQ:PL	0/1:75,82:157:99:1921,0,1899	15	0	6	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	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	1	0.5476	33750.98	102	chr9	133569476	.	A	G	33750.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.00;DP=1946;ExcessHet=0.5442;FS=0.563;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=0.324;SOR=0.714	GT:AD:DP:GQ:PL	0/1:63,42:105:99:1107,0,1602	5	7	9	0
chr9	134784978	134784978	C	T	intronic	COL5A1	.	.	.	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	0	0.002	210050	not_specified|Fibromuscular_dysplasia,_multifocal|Ehlers-Danlos_syndrome,_classic_type,_1	MedGen:CN169374|MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.698e-05	0	8.715e-05	0	0	1.553e-05	0	0	1.29e-05	2	154602	rs756350498	1.03e-05	1.027e-05	9.572e-06	1.104e-05	0.0003	6.19e-06	4.91e-06	6.101e-05	2.525e-05	2.995e-05	2.237e-05	0	0	0	0.0003	9.03e-06	1.661e-05	0	1.316e-05	1.314e-05	0	2.695e-05	6.558e-05	2.19e-06	8.2e-07	.	.	0	0	6.558e-05	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	680.98	33	chr9	134784978	.	C	T	680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.680e-01;DP=806;ExcessHet=0.0000;FS=12.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=1.02;SOR=0.126	GT:AD:DP:GQ:PL	0/1:31,28:59:99:695,0,882	20	0	1	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	Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2|not_specified|not_provided|Permanent_neonatal_diabetes_mellitus|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome	MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.022	B	0.011	B	0.000	N	0.002	P	1.78	L	-3.56	D	-0.925	T	0.000	T	0.081	2.924	15.74	3.02	0.367	4.098	9.307	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	1	0	0.7381	16735.53	37	chr10	23193706	.	T	C	16735.53	.	AC=31;AF=0.738;AN=42;BaseQRankSum=1.78;DP=712;ExcessHet=0.0338;FS=0.000;InbreedingCoeff=0.3842;MLEAC=31;MLEAF=0.738;MQ=60.00;MQRankSum=0.00;QD=28.90;ReadPosRankSum=-6.150e-01;SOR=0.760	GT:AD:DP:GQ:PL	1/1:0,16:16:48:571,48,0	3	13	5	0
chr10	71851249	71851249	T	G	UTR5	PSAP	NM_001042465:c.-28A>C;NM_001042466:c.-28A>C;NM_002778:c.-28A>C	.	.	Combined SAP deficiency, Autosomal recessive;Gaucher disease, atypical;Krabbe disease, atypical, Autosomal recessive;Metachromatic leukodystrophy due to SAP-b deficiency, Autosomal recessive	.	1	1508	13	0	0	13	0.00429185	.	.	253836	not_specified|Krabbe_disease_due_to_saposin_A_deficiency|Combined_PSAP_deficiency|Sphingolipid_activator_protein_1_deficiency|Gaucher_disease_due_to_saposin_C_deficiency	MedGen:CN169374|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722,Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539,Orphanet:309252,Orphanet:355	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0010	0	0	0	0	0.0015	0	0.0009	0.0001229	19	154602	rs375720661	0.0003	0.0003	0.0003	0.0003	0.0086	0.0003	0.0003	0.0067	0.0060	0.0002	0.0003	0.0021	2.799e-05	0	0.0086	0.0002	0.0006	0.0009	0.0004	0.0004	0.0003	0.0004	0.0021	0.0003	0.0003	0.0011	0.0009	4.808e-05	0	0.0005	0.0012	0	0	0.0102	0.0004	0.0014	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	622.98	33	chr10	71851249	.	T	G	622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.337e+00;DP=729;ExcessHet=0.0000;FS=1.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=-1.430e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:16,26:42:99:637,0,406	20	0	1	0
chr10	87863959	87863959	G	A	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_001304717:exon1:c.G10A:p.G4R,	Bannayan-Riley-Ruvalcaba syndrome, Autosomal dominant;Cowden syndrome 1, Autosomal dominant;Endometrial carcinoma, somatic;Lhermitte-Duclos syndrome, Autosomal dominant;Macrocephaly/autism syndrome, Autosomal dominant;Malignant melanoma, somatic;PTEN hamartoma tumor syndrome (3);Squamous cell carcinoma, head and neck, somatic;VATER association with macrocephaly and ventriculomegaly, Autosomal recessive	.	327	1088	90	17	0	124	0.053913	.	.	799618	Myeloproliferative_neoplasm,_unclassifiable|PTEN-related_disorder|not_specified|not_provided|PTEN_hamartoma_tumor_syndrome	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160343	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs12573787	0.1537	0.0877	0.1559	0.1517	0.3493	0.1524	0.1518	0.3428	0.3401	0.0618	0.2127	0.1122	0.3493	0.1133	0.0794	0.1350	0.1541	0.1302	0.1262	0.1263	0.1257	0.1267	0.3487	0.1247	0.1241	0.3351	0.3296	0.0615	0.0592	0.1934	0.1206	0.3487	0.1086	0.1268	0.1375	0.1377	0.1243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1667	3146.53	16	chr10	87863959	.	G	A	3146.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.01;DP=549;ExcessHet=0.2785;FS=2.303;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=59.88;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.597;SOR=0.791	GT:AD:DP:GQ:PL	0/1:18,15:33:99:391,0,431	15	1	5	0
chr10	99834500	99834500	G	A	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon24:c.G3379A:p.V1127I,	Dubin-Johnson syndrome, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	192961	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.000	N	1.000	D	-0.94	N	-2.36	D	-0.753	T	0.260	T	0.083	-1.558	0.015	-0.036	-0.247	0.640	10.951	0.301	0.15059769257	7.7e-05	0.000199681	0.0002	9.61e-05	0.0002	0	0	0.0002	0	0.0007	0.0001876	29	154602	rs370049107	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0004	0.0015	2.519e-05	0	0.0016	4.766e-05	0.0004	0.0005	0.0001	0.0001	8.999e-05	0.0002	0.0012	8.664e-05	7.256e-05	0.0005	0.0004	0	0	6.539e-05	0.0012	0	0	0.0068	8.822e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	0.000224	0.47286	N	0.244651	0.598185	0.30963	N	-1.06	0.01056	N	-2.36	0.88143	D	0.62	0.02442	N	0.231	0.25989	-0.7531	0.57773	T	0.260	0.63099	T	10	0.015184313	0.00319	T	0.150598	0.83226	D	0.301	0.62179	.	.	0.438170831126	0.43439	0.21865689833944185	0.21781	0.0328127421132	0.03431	0.266648471355	0.05708	T	0.091976	0.38908	T	-0.407721	0.02058	T	-0.462646	0.26312	T	0.00337042982054998	0.00036	T	0.287271	0.05164	T	0.0175054	0.00278	0.04331393	0.05359	0.0175054	0.00278	0.04331393	0.05359	-2.422	0.05269	T	0.07645626079696136	0.03495	0.065	0.01859	B	.;.	.;.	-0.710071	0.01297	0.069	0.39375784221966786	0.02713	0.24575	0.22436	N	ALL	0.166385	0.29296	N	-1.4578306419197	0.02156	0.09488812	-1.28389658119181	0.04647	0.2197169	0.999999999518805	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.578056	0.29568	0	0.620846	0.47308	0	.	.	5.18	-0.0359	0.13218	0.471000	0.21811	-0.235000	0.10642	-1.401000	0.01141	0.767000	0.29322	0.001000	0.17328	0.000000	0.00833	0.7972:0.0:0.2028:0.0	10.951	0.46540	714	0.56256	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1772.98	37	chr10	99834500	.	G	A	1772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=838;ExcessHet=0.0000;FS=8.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.637;SOR=0.792	GT:AD:DP:GQ:PL	0/1:74,73:147:99:1787,0,1748	20	0	1	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	17071.38	42	chr10	123053169	.	AT	A	17071.38	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-3.790e-01;DP=1002;ExcessHet=0.2785;FS=0.910;InbreedingCoeff=0.1451;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=23.74;ReadPosRankSum=0.164;SOR=0.579	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1164,126,0	1	15	5	0
chr11	640099	640099	A	G	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon3:c.A850G:p.S284G,	Autonomic nervous system dysfunction (3)	.	654	794	37	18	19	92	0.0439494	.	.	2672405	Hereditary_attention_deficit-hyperactivity_disorder|DRD4-related_disorder	MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.41	T	.	.	.	.	0.000	N	1.000	P	.	.	-0.38	T	-1.062	T	0.000	T	0.066	0.195	5.048	-0.472	-0.912	-1.954	5.355	0.030	.	.	0.260982	0.275	0.5	0.5	.	.	0.375	.	0.0625	0.0158471	2450	154602	rs34662058	0.2484	0.1847	0.2534	0.2429	0.4995	0.2475	0.2471	0.4910	0.4876	0.4995	0.3024	0.2499	0.0569	0.2136	0.1807	0.2551	0.2542	0.0731	0.2805	0.2768	0.2863	0.2742	0.4513	0.2776	0.2765	0.4449	0.4423	0.4513	0.1636	0.2414	0.2191	0.0416	0.1925	0.2586	0.2094	0.2720	0.0994	0.202	0.20230	T	0.394	0.15305	T	.	.	.	.	.	.	0.000208	0.00519	N	6.727460	1	0.08975	P	.	.	.	-0.38	0.69027	T	-0.48	0.15379	N	0.052	0.02366	-1.0622	0.11215	T	0.000	0.00011	T	6	0.0018818974	0.00025	T	.	.	.	0.030	0.07022	.	.	.	.	0.1843658106747716	0.18355	0.26035772333	0.28604	0.51110959053	0.40377	T	.	.	.	-0.693025	0.00040	T	-0.624439	0.10839	T	0.00374200882312244	0.00040	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00191	B	.	.	-0.243362	0.02876	0.409	0.37691858803857581	0.02499	0.00056	0.00418	N	AEFBI	0.017570	0.00469	N	-1.24062643470003	0.04424	0.1996522	-1.47126826666969	0.02583	0.1190362	0.992365450282527	0.32813	0.59774	0.34471	0	0.514364	0.08380	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	0.664	-0.472	0.11511	-1.085000	0.03500	-1.087000	0.06371	-1.440000	0.01105	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6696:0.0:0.3304:0.0	5.355	0.15359	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	rs34662058	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.1053	1313.13	27	chr11	640099	.	A	G,*	1313.13	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=-7.890e-01;DP=605;ExcessHet=0.7148;FS=3.595;InbreedingCoeff=-0.0112;MLEAC=3,1;MLEAF=0.079,0.026;MQ=59.62;MQRankSum=0.00;QD=13.13;ReadPosRankSum=1.12;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,8,0:33:99:.:.:323,0,791,342,800,1127	15	0	3	2
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	Type_1_diabetes_mellitus_2|Maturity-onset_diabetes_of_the_young_type_10|Diabetes_mellitus,_permanent_neonatal_4|Autosomal_recessive_DOPA_responsive_dystonia|Transient_Neonatal_Diabetes,_Dominant/Recessive|Hyperproinsulinemia|Diabetes_mellitus_type_1|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MedGen:CN239353|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	P	.	.	-4.58	D	-0.893	T	0.000	T	0.193	-0.854	0.541	-3.76	-2.608	0.411	2.503	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	78587.44	179	chr11	2159830	.	T	G	78587.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.199;DP=3573;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=22.65;ReadPosRankSum=0.179;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,90:202:99:.:.:2188,0,2861	1	12	8	0
chr11	5254939	5254939	G	A	upstream	HBG2	dist=158	.	.	Cyanosis, transient neonatal, Autosomal dominant;Fetal hemoglobin quantitative trait locus 1, Autosomal dominant	.	611	857	47	7	0	61	0.0343662	.	.	30023	not_specified|Hereditary_persistence_of_fetal_hemoglobin|not_provided	MedGen:CN169374|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0479484	1248	26028	rs1060499525	0.2183	0.1733	0.2171	0.2194	0.2475	0.2171	0.2166	0.2459	0.2452	0.1238	0.1610	0.1566	0.1167	0.1910	0.1586	0.2475	0.2074	0.2141	0.2071	0.2107	0.2105	0.2035	0.2630	0.2051	0.2043	0.2598	0.2584	0.1428	0.2024	0.1805	0.1739	0.1099	0.1876	0.1837	0.2630	0.2108	0.2288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	1723.79	5	chr11	5254939	.	G	A	1723.79	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.190e-01;DP=326;ExcessHet=7.7275;FS=5.625;InbreedingCoeff=-0.3663;MLEAC=11;MLEAF=0.262;MQ=54.87;MQRankSum=0.00;QD=7.18;ReadPosRankSum=-3.700e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/1:1,3:4:30:81,0,30	10	0	11	0
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	9	194	657	662	0	1981	0.836218	.	.	319487	Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	25022.16	47	chr11	17386857	.	C	T	25022.16	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.185;DP=1241;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=23.00;ReadPosRankSum=-2.670e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:15,28:43:99:819,0,425	3	9	9	0
chr11	17393023	17393023	C	T	exonic	ABCC8	.	nonsynonymous SNV	ABCC8:NM_000352:exon39:c.G4714A:p.V1572I	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	Transient_Neonatal_Diabetes,_Dominant|Hyperinsulinism,_Dominant/Recessive|not_provided|Neonatal_hypoglycemia|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|Permanent_neonatal_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|not_specified|Hereditary_hyperinsulinism	MedGen:CN239283|MedGen:CN239464|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001998,MedGen:C0158986|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|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.86	T	0.005	B	0.002	B	0.001	N	0.999	D	0.435	N	-2.66	D	-0.886	T	0.060	T	0.022	0.368	6.000	1.28	0.227	0.663	8.346	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.07143	6573.68	34	chr11	17393023	.	C	T	6573.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.45;DP=1225;ExcessHet=0.3300;FS=0.521;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.062;SOR=0.729	GT:AD:DP:GQ:PL	0/1:81,84:165:99:2168,0,1850	18	0	3	0
chr11	17393168	17393168	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	.	158	484	576	304	0	1184	0.550186	.	.	167552	Transitory_neonatal_diabetes_mellitus|not_specified|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MedGen:CN169374|MedGen:C3661900|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|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3721	0.35623	0.3439	0.4529	0.4653	0.1359	0.2002	0.3362	0.3884	0.3834	0.0001153	3	26028	rs1109591	0.3344	0.3348	0.3329	0.3359	0.5002	0.3336	0.3332	0.4849	0.4787	0.4563	0.4588	0.3945	0.1494	0.2029	0.5002	0.3319	0.3431	0.3829	0.3623	0.3624	0.3693	0.3550	0.4494	0.3597	0.3587	0.4405	0.4382	0.4458	0.2301	0.4494	0.3942	0.1308	0.1965	0.4521	0.3337	0.3912	0.3652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	26070.0	74	chr11	17393168	.	T	C	26070.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=3.30;DP=1375;ExcessHet=2.1081;FS=1.364;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=21.63;ReadPosRankSum=-4.590e-01;SOR=0.834	GT:AD:DP:GQ:PL	0/1:30,31:61:99:972,0,898	4	6	11	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	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|not_specified|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	16421.3	35	chr11	17395957	.	A	G	16421.3	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.977;DP=1002;ExcessHet=0.2144;FS=1.432;InbreedingCoeff=0.2364;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=22.53;ReadPosRankSum=-2.190e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:34,23:57:99:672,0,1026	7	6	8	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	not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2	MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	4454.89	6	chr11	17414293	.	A	G	4454.89	.	AC=32;AF=0.800;AN=40;BaseQRankSum=-1.256e+00;DP=166;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=34;MLEAF=0.850;MQ=60.00;MQRankSum=0.00;QD=28.93;ReadPosRankSum=1.38;SOR=1.025	GT:AD:DP:GQ:PL	1/1:0,14:14:42:450,42,0	2	14	4	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	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	15879.44	27	chr11	17414389	.	G	A	15879.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=2.19;DP=577;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=30.13;ReadPosRankSum=0.291;SOR=0.668	GT:AD:DP:GQ:PL	0/1:19,13:32:99:437,0,615	1	12	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	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	23788.44	42	chr11	17414419	.	G	A	23788.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=-1.339e+00;DP=959;ExcessHet=1.5138;FS=1.823;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=26.88;ReadPosRankSum=0.480;SOR=0.916	GT:AD:DP:GQ:PL	0/1:27,22:49:99:611,0,807	1	12	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	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	33694.02	59	chr11	17415389	.	A	G	33694.02	.	AC=34;AF=0.810;AN=42;BaseQRankSum=1.83;DP=1416;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=34;MLEAF=0.810;MQ=60.00;MQRankSum=0.00;QD=25.03;ReadPosRankSum=0.208;SOR=0.696	GT:AD:DP:GQ:PL	1/1:0,65:65:99:1952,195,0	1	14	6	0
chr11	17428382	17428382	C	T	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon14:c.G1947A:p.K649K	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	YES	1	1120	365	36	0	437	0.163242	.	.	167534	Diabetes_mellitus,_permanent_neonatal_3|Hereditary_hyperinsulinism|Permanent_neonatal_diabetes_mellitus|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Type_2_diabetes_mellitus|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|not_provided	MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|.|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|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:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1567	0.202077	0.1785	0.1816	0.1202	0.1671	0.1980	0.1587	0.1689	0.2962	0.173064	26756	154602	rs1799858	0.1599	0.1599	0.1565	0.1632	0.2802	0.1593	0.1591	0.2773	0.2760	0.1811	0.1311	0.1863	0.1992	0.1981	0.1185	0.1471	0.1660	0.2802	0.1659	0.1663	0.1609	0.1712	0.2891	0.1642	0.1635	0.2764	0.2713	0.1777	0.1187	0.1581	0.1907	0.1991	0.1888	0.0918	0.1457	0.1552	0.2891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	1	0.1667	9910.53	34	chr11	17428382	.	C	T	9910.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-8.430e-01;DP=1163;ExcessHet=0.2785;FS=0.000;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=0.880;SOR=0.689	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1226,0,1230	15	1	5	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H	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	not_specified|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|not_provided|Cerebral_edema|Diabetes_mellitus,_permanent_neonatal_3	MedGen:CN169374|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	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	1	1	0.4762	39176.3	120	chr11	17430945	.	G	A	39176.3	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.597;DP=2193;ExcessHet=0.2144;FS=0.599;InbreedingCoeff=0.2364;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=20.49;ReadPosRankSum=0.183;SOR=0.749	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3708,345,0	7	6	8	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352: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	YES	1	302	754	465	0	1684	0.736014	.	.	167535	Hyperinsulinemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|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:CN169374|MedGen:C3661900	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	1	1	0.7143	102418.54	245	chr11	17474969	.	A	G	102418.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=-1.654e+00;DP=4835;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.209;SOR=0.733	GT:AD:DP:GQ:PL	0/1:132,106:238:99:2566,0,3464	2	11	8	0
chr11	22250756	22250756	C	T	exonic	ANO5	.	synonymous SNV	ANO5:NM_001142649:exon11:c.C1026T:p.D342D	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	.	15	1506	1	0	0	1	0.000331895	.	.	102570	Miyoshi_myopathy|ANO5-Related_Muscle_Diseases|not_specified|Gnathodiaphyseal_dysplasia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|Limb-girdle_muscular_dystrophy,_recessive|not_provided	MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:CN180644|MedGen:CN169374|MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MedGen:CN239352|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0106	0.014976	0.0031	0.0325	0.0014	0	0	0.0002	0.0022	0	0.0031371	485	154602	rs78899595	0.0010	0.0010	0.0012	0.0009	0.0341	0.0010	0.0010	0.0325	0.0318	0.0341	0.0019	0	0	1.872e-05	0.0021	8.904e-05	0.0023	1.159e-05	0.0092	0.0092	0.0097	0.0087	0.0323	0.0088	0.0087	0.0308	0.0302	0.0323	0	0.0024	0	0	0	0.0034	0.0003	0.0043	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	0.02381	1418.98	33	chr11	22250756	.	C	T	1418.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=799;ExcessHet=0.0000;FS=1.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=-1.350e-01;SOR=0.915	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1433,0,1325	20	0	1	0
chr11	31793814	31793814	G	A	intronic	PAX6	.	.	.	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	1	1280	221	20	0	261	0.0925204	0	0	254136	carboxymethyl-dextran-A2-gadolinium-DOTA|Anophthalmia-microphthalmia_syndrome|11p_partial_monosomy_syndrome|Aniridia_1|not_provided|Autosomal_dominant_keratitis|Abnormality_of_refraction|Irido-corneo-trabecular_dysgenesis|Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability|Foveal_hypoplasia_1|not_specified	.|MedGen:C5680330,Orphanet:98555|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923|MedGen:C3661900|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orphanet:2334|Human_Phenotype_Ontology:HP:0000539,MedGen:C4025843|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orphanet:2253|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0459	0.0904553	0.0779	0.0398	0.2073	0.1936	0.0554	0.0518	0.0642	0.0660	0.0753354	11647	154602	rs667773	0.0579	0.0580	0.0582	0.0576	0.1929	0.0576	0.0575	0.1895	0.1881	0.0436	0.1929	0.0745	0.1485	0.0520	0.1245	0.0476	0.0709	0.0697	0.0616	0.0617	0.0594	0.0639	0.1929	0.0605	0.0601	0.1829	0.1789	0.0418	0.0055	0.1300	0.0718	0.1929	0.0499	0.1497	0.0492	0.0710	0.0681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	31936.03	332	chr11	31793814	.	G	A	31936.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.75;DP=3031;ExcessHet=1.7912;FS=1.227;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-7.400e-02;SOR=0.793	GT:AD:DP:GQ:PL	0/1:195,191:386:99:5349,0,5412	15	0	6	0
chr11	46726112	46726112	C	T	exonic	F2	.	synonymous SNV	F2:NM_000506:exon7:c.C813T:p.G271G,	Dysprothrombinemia, Autosomal recessive;Hypoprothrombinemia, Autosomal recessive;Thrombophilia due to thrombin defect, Autosomal dominant	.	0	1442	78	2	0	82	0.0276467	.	.	314188	Thrombophilia_due_to_thrombin_defect|F2-related_disorder|Congenital_prothrombin_deficiency	MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|.|MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0082	0.00638978	0.0086	0.0017	0.0031	0.0002	0.0011	0.0087	0.0078	0.0237	0.0081241	1256	154602	rs5899	0.0097	0.0097	0.0093	0.0101	0.0246	0.0096	0.0095	0.0238	0.0234	0.0013	0.0049	0.0073	5.038e-05	0.0012	0.0128	0.0098	0.0099	0.0246	0.0071	0.0071	0.0068	0.0073	0.0244	0.0067	0.0066	0.0209	0.0195	0.0017	0	0.0078	0.0086	0.0006	0.0008	0.0102	0.0104	0.0081	0.0244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.02381	1740.98	33	chr11	46726112	.	C	T	1740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.800e-02;DP=818;ExcessHet=0.0000;FS=0.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=0.023;SOR=0.582	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1755,0,1309	20	0	1	0
chr11	66560624	66560624	C	T	exonic	ACTN3	.	stopgain	ACTN3:NM_001104:exon15:c.C1729T:p.R577X	.	YES	431	348	516	227	0	970	0.582233	.	.	33351	Actn3_deficiency|Sprinting_performance|ACTININ,_ALPHA-3_POLYMORPHISM|INCREASED_COLD_TOLERANCE	MedGen:C3888204,OMIM:617749|MedGen:C2319308|.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|Affects	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011494	1777	154602	rs1815739	0.4457	0.4457	0.4429	0.4486	0.6506	0.4448	0.4445	0.6443	0.6418	0.1565	0.6506	0.4488	0.4864	0.3242	0.4631	0.4408	0.4423	0.5727	0.3751	0.3752	0.3731	0.3772	0.5830	0.3726	0.3715	0.5650	0.5577	0.1705	0.5662	0.5458	0.4550	0.4656	0.3104	0.4184	0.4422	0.4119	0.5830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.58543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	8.325406	0.97431	37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.339000	0.33489	-0.261000	0.10426	0.599000	0.40250	0.997000	0.40164	0.094000	0.22579	0.852000	0.40310	.	.	.	59	0.97452	.;.	CTD-3074O7.5|BBS1|ACTN3|CTSF|ACTN3|DPP3|CTSF|ACTN3|CTSF|ACTN3|ACTN3|CTSF|C11orf80|LRFN4|ZDHHC24|CTSF|ZDHHC24|CTD-3074O7.2|PC|CTD-3074O7.2|CTSF|PC|BBS1|ZDHHC24|ZDHHC24|ZDHHC24|CTSF|ZDHHC24|CTSF|CTSF|CTD-3074O7.5|ACTN3|BBS1|ACTN3|CTSF|LRFN4|CLCF1|CCS|ACTN3|CTSF|ACTN3|CTSF|CCS|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|ACTN3|CTSF|LRFN4|ACTN3|ACTN3|CTSF|CTD-3074O7.5|ACTN3|CTSF|CCS|ACTN3|RP11-867G23.8|BBS1|ACTN3|CTSF|CTD-3074O7.5|ZDHHC24|ACTN3|CTSF|C11orf80|DPP3|CTSF|CTSF|RP11-867G23.8|CTSF|BBS1|ACTN3|CTSF|LRFN4|RIN1|BBS1|ACTN3|CTSF|ACTN3|CCS|DPP3|ACTN3|CCS|CTD-3074O7.5|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|ACTN3|CTD-3074O7.2|RP11-755F10.1|RP11-867G23.8|PELI3|CTD-3074O7.5|DPP3|ZDHHC24|ACTN3|CTSF|LRFN4|ACTN3|RIN1|PELI3|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|CCS|RCE1|LRFN4	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Prostate|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|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood	SLC29A2|MRPL11|DPP3|MRPL11|MRPL11|BBS1|SLC29A2|SLC29A2|MRPL11|MRPL11|DPP3|MRPL11|DPP3|MRPL11|RP11-867G23.8|MRPL11|SLC29A2|SLC29A2|MRPL11|DPP3|SLC29A2|MRPL11|SLC29A2|MRPL11|CTD-3074O7.5|SLC29A2|MRPL11|MRPL11|MRPL11|RP11-867G23.8|SLC29A2|MRPL11|DPP3|RP11-867G23.8|SLC29A2|MRPL11|MRPL11|DPP3|DPP3|MRPL11|DPP3|ACTN3|SPTBN2|MRPL11|MRPL11	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Lung|Nerve_Tibial|Pancreas|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|Stomach|Testis|Testis|Testis|Testis|Whole_Blood|Whole_Blood	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0.3333	20480.46	40	chr11	66560624	.	C	T	20480.46	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.928;DP=1792;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.037;SOR=0.696	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1712,0,1383	8	1	12	0
chr11	77190146	77190146	G	A	intronic	MYO7A	.	.	.	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	2	1515	5	0	0	5	0.00164745	0.0002	0	52391	not_provided|not_specified|Usher_syndrome_type_1B	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0700087,MedGen:C2931206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0002	0	0	0	0	0.0002	0	0.0002	0.0001682	26	154602	rs397516305	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0006	0.0005	0	8.422e-05	0	0	0	0.0004	9.43e-05	0.0002	0.0007	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	7.214e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	993.98	34	chr11	77190146	.	G	A	993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.993e+00;DP=781;ExcessHet=0.0000;FS=1.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.370e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1008,0,1206	20	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	YES	0	682	633	207	0	1047	0.43426	.	.	18817	Oculocutaneous_albinism|Albinism_or_congenital_nystagmus|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1B|Tyrosinase-negative_oculocutaneous_albinism|not_specified	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|.|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.997	D	0.974	D	0.000	D	1.000	P	2.135	M	-5.1	D	-1.784	T	0.000	T	0.455	3.276	17.00	6.07	2.885	4.436	15.385	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3333	50700.41	228	chr11	89178528	.	C	A	50700.41	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.625e+00;DP=3243;ExcessHet=0.4640;FS=0.000;InbreedingCoeff=0.1429;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=17.97;ReadPosRankSum=0.136;SOR=0.667	GT:AD:DP:GQ:PL	0/1:145,138:283:99:3443,0,4098	10	3	8	0
chr11	94478810	94478810	T	C	exonic	MRE11	.	nonsynonymous SNV	MRE11:NM_001330347:exon6:c.A469G:p.M157V	Ataxia-telangiectasia-like disorder, Autosomal recessive	.	0	224	1	1	0	3	0.00665188	.	.	152190	Hereditary_cancer-predisposing_syndrome|not_provided|Hereditary_breast_ovarian_cancer_syndrome|Ataxia-telangiectasia-like_disorder_1|Ataxia-telangiectasia-like_disorder	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391,Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.019	B	0.049	B	0.000	D	0.990	N	0.805	L	-1.32	T	-0.861	T	0.226	T	0.152	1.312	10.30	4.42	0.930	0.507	7.927	0.156	0.0532767714862	.	0.00119808	0.0002	9.621e-05	0	0.0020	0	0	0	6.062e-05	0.0001746	27	154602	rs147771140	0.0002	0.0002	0.0002	0.0002	0.0046	0.0001	0.0001	0.0040	0.0038	2.988e-05	8.946e-05	0	0.0046	0	0	2.878e-05	4.969e-05	9.276e-05	0.0001	0.0001	0.0001	6.712e-05	0.0027	6.506e-05	5.318e-05	0.0016	0.0013	0	0	6.537e-05	0	0.0027	0	0	1.47e-05	0	0	0.292	0.17821	T	0.269	0.22426	T	0.0	0.17989	B	0.002	0.25116	B	0.000475	0.44119	D	0.280361	0.990459	0.24169	N	0	0.06538	N	-1.32	0.79761	T	-0.23	0.13611	N	0.243	0.31478	-0.8613	0.51169	T	0.226	0.59007	T	10	0.010507375	0.00233	T	0.053277	0.65404	D	0.156	0.40720	.	.	0.516604699598	0.51303	0.28827614273214514	0.28740	0.0855303882618	0.09661	0.310985445976	0.12056	T	0.271632	0.64398	T	-0.405669	0.02124	T	-0.362755	0.37733	T	0.0140643556907489	0.00273	T	0.805419	0.47040	T	0.06948043	0.15226	0.097648405	0.23250	0.0662327	0.14232	0.11164829	0.26932	-2.456	0.05808	T	.	.	0.051	0.00533	B	.;.;.;.;.	.;.;.;.;.	0.965026	0.13415	9.925	0.93869662479309102	0.23879	0.32975	0.24716	N	AEFGBI	0.119322	0.23293	N	-0.526663318087286	0.21222	1.124617	-0.387138051057223	0.25380	1.395355	0.793980024125849	0.24064	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.54	4.42	0.52775	0.532000	0.22776	-1.274000	0.05845	0.597000	0.34315	0.158000	0.23769	0.000000	0.08366	0.991000	0.66497	0.0:0.0716:0.1373:0.7912	7.927	0.29043	877	0.30165	Calcineurin-like phosphoesterase domain, ApaH type;.;.;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2695.98	35	chr11	94478810	.	T	C	2695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.317e+00;DP=918;ExcessHet=0.0000;FS=1.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.877;SOR=0.612	GT:AD:DP:GQ:PL	0/1:107,111:218:99:2710,0,2793	20	0	1	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1: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	not_provided|Rhizomelic_chondrodysplasia_punctata_type_5|Peroxisome_biogenesis_disorder_2A_(Zellweger)|Peroxisome_biogenesis_disorder_2B	MedGen:C3661900|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9718.96	34	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	9718.96	.	AC=24;AF=0.571;AN=42;BaseQRankSum=1.05;DP=1226;ExcessHet=0.0000;FS=8.661;InbreedingCoeff=0.8056;MLEAC=24;MLEAF=0.571;MQ=59.48;MQRankSum=-7.280e-01;QD=26.25;ReadPosRankSum=-9.330e-01;SOR=0.198	GT:AD:DP:GQ:PL	1/1:0,16:16:66:724,66,0	8	11	2	0
chr12	21910318	21910319	AA	-	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	33	79	73	18	23	132	0.40824	.	.	330174	Dilated_Cardiomyopathy,_Dominant|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation|not_provided	MedGen:CN239310|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0344	0.0213	0.0444	0.0182	0.0207	0.0378	0.0459	0.0332	0.0003458	9	26028	rs778815116	0.0264	0.0488	0.0268	0.0261	0.0448	0.0262	0.0261	0.0428	0.0420	0.0156	0.0448	0.0171	0.0118	0.0348	0.0075	0.0268	0.0248	0.0261	0.0006	0.0012	0.0006	0.0007	0.0010	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0006	0	0.0010	0.0026	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2716.27	42	chr12	21910317	.	CAA	CA,C	2716.27	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=0.301;DP=958;ExcessHet=21.3848;FS=0.000;InbreedingCoeff=-0.5954;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=4.38;ReadPosRankSum=0.401;SOR=0.677	GT:AD:DP:GQ:PL	0/1:32,7,0:40:73:73,0,705,180,808,1230	3	0	16	0
chr12	80358663	80358663	C	A	intronic	OTOGL	.	.	.	Deafness, autosomal recessive 84B, Autosomal recessive	.	.	.	.	.	.	.	.	0.0044	0.072	1187976	not_provided|OTOGL-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	5.552e-05	0	0	0	0	6.738e-05	0	0.0001	3.88e-05	6	154602	rs373997499	6.605e-05	6.637e-05	5.956e-05	7.26e-05	0.0002	5.517e-05	5.124e-05	8.201e-05	6.397e-05	6.127e-05	0	0	0	0	0.0002	6.668e-05	0.0001	0.0001	3.945e-05	3.94e-05	3.855e-05	4.039e-05	7.352e-05	1.716e-05	1.13e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.352e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	689.98	34	chr12	80358663	.	C	A	689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.272;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=-1.005e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/1:67,33:100:99:704,0,1674	20	0	1	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	2	270	714	536	0	1786	0.767842	.	.	134680	Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_specified|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,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	1	1	0.619	42933.13	95	chr12	120978819	.	C	G	42933.13	.	AC=26;AF=0.619;AN=42;BaseQRankSum=1.45;DP=2181;ExcessHet=0.3152;FS=1.264;InbreedingCoeff=0.1923;MLEAC=26;MLEAF=0.619;MQ=60.00;MQRankSum=0.00;QD=21.72;ReadPosRankSum=0.778;SOR=0.582	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3442,327,0	4	9	8	0
chr12	120978847	120978847	A	C	exonic	HNF1A	.	nonsynonymous SNV	HNF1A:NM_000545:exon1:c.A79C:p.I27L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	0	433	725	364	0	1453	0.626563	.	.	29976	Maturity_onset_diabetes_mellitus_in_young|Insulin_resistance,_susceptibility_to|not_specified|SERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|Type_2_diabetes_mellitus	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C1852091|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.025	B	0.047	B	0.001	D	0.000	P	1.445	L	-4.99	D	-1.199	T	0.000	T	0.491	2.485	14.27	4.45	1.637	3.135	12.900	0.471	.	0.2625	0.298522	0.3533	0.1240	0.3657	0.4181	0.4013	0.3526	0.4043	0.4245	0.337234	52137	154602	rs1169288	0.3335	0.3336	0.3293	0.3377	0.4891	0.3327	0.3324	0.4740	0.4679	0.1157	0.3665	0.4685	0.4637	0.3871	0.4891	0.3203	0.3413	0.4211	0.2886	0.2888	0.2795	0.2980	0.4159	0.2863	0.2854	0.4007	0.3946	0.1246	0.3998	0.3441	0.4579	0.4113	0.4038	0.5136	0.3279	0.3172	0.4159	0.082	0.33254	T	0.088	0.41074	T	0.02	0.18235	B	0.013	0.16460	B	0.000599	0.43095	D	0.102545	0.00427281	0.58761	P	.	.	.	-4.99	0.98507	D	-0.92	0.26422	N	0.244	0.59478	-1.1988	0.00159	T	0.000	0.00011	T	9	0.0011825562	0.00013	T	.	.	.	0.471	0.76487	.	.	.	.	0.639855555068673	0.63920	0.661091555139	0.58901	0.671702623367	0.63080	T	0.616759	0.87931	D	-0.242214	0.15067	T	0.0231193	0.71833	D	0.0200591795459442	0.00707	T	0.545645	0.21248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.29724	B	.;.;.;.;.;.	.;.;.;.;.;.	2.848995	0.37605	20.5	0.97610260144253136	0.34904	0.91018	0.52700	D	AEFDBHCI	0.874006	0.79666	D	-0.165784519999115	0.34565	1.974477	-0.019193184638099	0.38849	2.294743	0.999999999782079	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	3.208000	0.50816	6.975000	0.57104	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	12.900	0.57511	371	0.84287	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|UNC119B|SPPL3|SPPL3|SPPL3|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43|ACADS|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood	.	.	rs1169288	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	1	0	0.5238	33561.51	89	chr12	120978847	.	A	C	33561.51	.	AC=22;AF=0.524;AN=42;BaseQRankSum=1.54;DP=1997;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=19.34;ReadPosRankSum=-1.670e-01;SOR=0.717	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3377,312,0	5	6	10	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	not_provided|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	P	.	.	.	.	-1.027	T	0.000	T	.	-0.974	0.301	-8.98	-3.672	-0.240	13.207	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	52313.0	129	chr12	120997672	.	G	A	52313.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.17;DP=2905;ExcessHet=2.1081;FS=0.567;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=0.674;SOR=0.641	GT:AD:DP:GQ:PL	1/1:0,138:138:99:4311,414,0	4	6	11	0
chr13	23320614	23320615	TG	-	intronic	SGCG	.	.	.	Muscular dystrophy, limb-girdle, type 2C, Autosomal recessive	.	188	423	406	438	67	1349	0.602444	.	.	408805	not_specified|not_provided	MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.1291	0.0400	0.1078	0.0906	0.0515	0.1427	0.1633	0.1427	0.0002305	6	26028	rs1064794531	0.0330	0.0494	0.0331	0.0329	0.0489	0.0327	0.0326	0.0468	0.0460	0.0087	0.0363	0.0553	0.0489	0.0201	0.0322	0.0331	0.0334	0.0349	0.0006	0.0009	0.0006	0.0007	0.0010	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0010	0	0.0006	0.0014	0	0.0008	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	14729.47	28	chr13	23320613	.	TTG	GTG,*,T	14729.47	.	AC=16,3,7;AF=0.381,0.071,0.167;AN=42;BaseQRankSum=0.146;DP=715;ExcessHet=4.5793;FS=0.638;InbreedingCoeff=-0.2554;MLEAC=16,2,8;MLEAF=0.381,0.048,0.190;MQ=60.00;MQRankSum=0.00;QD=25.66;ReadPosRankSum=-7.800e-02;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:5,21,3,4:33:8:.:.:849,8,329,774,69,931,764,0,822,861	2	3	7	0
chr13	23333585	23333585	C	G	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.G9850C:p.V3284L	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	.	1	1483	32	0	6	38	0.0106738	.	.	684394	Charlevoix-Saguenay_spastic_ataxia|SACS-related_disorder|Spastic_paraplegia|not_provided	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|.|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.656	P	0.222	B	0.000	D	0.994	D	0.895	L	-2.28	D	-0.012	T	0.515	D	0.808	3.705	18.82	5.1	1.525	4.041	15.244	0.555	0.0577134195937	0.0003	0.000798722	0.0015	0	0.0008	0	0	0.0006	0.0022	0.0081	0.0013195	204	154602	rs144179865	0.0008	0.0008	0.0005	0.0011	0.0089	0.0007	0.0007	0.0084	0.0082	2.988e-05	0.0006	0.0008	5.04e-05	0	0.0031	0.0002	0.0010	0.0089	0.0004	0.0004	0.0003	0.0005	0.0075	0.0003	0.0003	0.0055	0.0049	4.816e-05	0	0.0001	0.0009	0	0	0	0.0003	0	0.0075	0.029	0.45756	D	0.0	0.92824	D	0.656	0.40834	P	0.222	0.37884	B	0.000000	0.84330	D	0.000000	0.993666	0.42012	D	1.845	0.48678	L	-2.43	0.88689	D	-1.16	0.29727	N	0.491	0.52475	-0.0118	0.82011	T	0.515	0.81821	D	10	0.011504352	0.00251	T	0.057713	0.67063	D	0.555	0.81659	0.449	0.50957	0.84093893371	0.83941	0.6534326382826	0.65279	.	.	0.596720933914	0.52442	T	0.206031	0.56526	T	-0.0733947	0.40784	T	0.128053	0.78766	D	0.0942539796233177	0.11712	T	0.888311	0.61778	D	0.15958892	0.35842	0.13414635	0.32150	0.19954336	0.41897	0.1363398	0.32619	-2.876	0.08906	T	0.3575636095310141	0.45429	0.455	0.62440	A	.;.	.;.	2.292854	0.29327	18.09	0.99526170245541101	0.69591	0.97790	0.77152	D	AEFBI	0.632199	0.61289	D	0.112761731766394	0.47058	2.936847	0.223547471888333	0.51157	3.300695	0.999999999923135	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.94	5.1	0.68917	4.111000	0.57577	3.388000	0.38048	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.879000	0.42020	0.0:0.9327:0.0:0.0673	15.244	0.73188	987	0.02648	.;.	.	.	.	.	.	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	0.02381	2082.98	145	chr13	23333585	.	C	G	2082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=2851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-5.390e-01;SOR=0.645	GT:AD:DP:GQ:PL	0/1:79,79:158:99:2097,0,1981	20	0	1	0
chr13	23411458	23411458	T	C	UTR5	SACS	NM_014363:c.-219A>G	.	.	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	.	245	1276	1	0	0	1	0.000391696	.	.	334098	not_provided|Charlevoix-Saguenay_spastic_ataxia	MedGen:C3661900|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	.	.	.	.	.	.	.	.	0.0019469	301	154602	rs74495070	0.0113	0.0137	0.0117	0.0110	0.0136	0.0111	0.0109	0.0132	0.0130	0.0025	0.0126	0.0139	0	0.0189	0.0017	0.0136	0.0129	0.0006	0.0097	0.0097	0.0093	0.0101	0.0135	0.0093	0.0091	0.0127	0.0125	0.0027	0.0033	0.0124	0.0138	0	0.0169	0.0034	0.0135	0.0090	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	378.04	23	chr13	23411458	.	T	C	378.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.856e+00;DP=343;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0282;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.90;ReadPosRankSum=1.57;SOR=0.317	GT:AD:DP:GQ:PL	0/1:8,11:19:99:392,0,280	20	0	1	0
chr14	45137087	45137087	C	T	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon2:c.C527T:p.T176I	.	.	1	1508	13	0	0	13	0.00429185	.	.	320546	not_provided|not_specified|Spermatogenic_failure_28|Fanconi_anemia|FANCM-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.003	B	0.008	B	0.052	N	1.000	N	1.74	L	2.42	T	-1.050	T	0.026	T	0.174	1.314	10.31	3.13	1.209	-0.802	6.779	0.030	.	0.0035	0.00139776	0.0044	0.0004	0.0029	0	0.0141	0.0056	0.0055	0.0015	0.0041526	642	154602	rs77374493	0.0045	0.0045	0.0045	0.0044	0.0056	0.0044	0.0043	0.0046	0.0046	0.0006	0.0023	0.0004	0	0.0122	0.0056	0.0047	0.0044	0.0018	0.0036	0.0036	0.0035	0.0038	0.0048	0.0034	0.0033	0.0044	0.0042	0.0007	0	0.0027	0.0006	0	0.0136	0.0034	0.0048	0.0038	0.0010	0.193	0.20912	T	0.242	0.27145	T	0.0	0.11197	B	0.003	0.13708	B	0.051746	0.22954	N	0.507562	0.999922	0.19486	N	1.115	0.28702	L	2.42	0.15376	T	-3.37	0.66665	D	0.05	0.02179	-1.0502	0.14341	T	0.026	0.11176	T	10	0.008818626	0.00200	T	.	.	.	0.030	0.07022	.	.	0.415947407303	0.41207	0.1712033457664659	0.17040	0.0926538183713	0.10463	0.387260079384	0.23282	T	0.120295	0.44244	T	-0.611287	0.00124	T	-0.649481	0.08990	T	0.0135318982733454	0.00248	T	0.675032	0.28342	T	0.20840895	0.43077	0.21030024	0.45411	0.1945151	0.41205	0.20614702	0.44814	-6.667	0.51561	T	.	.	0.074	0.21125	B	.;.;.	.;.;.	1.413284	0.18288	13.65	0.96756622761729538	0.30983	0.07924	0.13911	N	AEFGBI	0.079030	0.15956	N	-0.418296970843012	0.24827	1.343377	-0.334980538106223	0.26977	1.493823	0.999968038709869	0.48965	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.627883	0.49187	0	.	.	5.39	3.13	0.35090	-0.775000	0.04785	-0.032000	0.12782	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.997000	0.79791	0.4238:0.4845:0.0:0.0918	6.779	0.22823	801	0.44448	.;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	309.98	33	chr14	45137087	.	C	T	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=735;ExcessHet=0.0000;FS=1.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=-7.750e-01;SOR=0.992	GT:AD:DP:GQ:PL	0/1:26,13:39:99:324,0,680	20	0	1	0
chr14	53949883	53949883	-	A	UTR3	BMP4	NM_001202:c.*148_*149insT;NM_001347917:c.*148_*149insT;NM_001347916:c.*148_*149insT;NM_001347915:c.*148_*149insT;NM_001347914:c.*148_*149insT;NM_001347913:c.*148_*149insT;NM_001347912:c.*148_*149insT;NM_130851:c.*148_*149insT;NM_130850:c.*148_*149insT	.	.	Microphthalmia, syndromic 6, Autosomal dominant;Orofacial cleft 11	.	1179	237	2	4	100	110	0.0206612	.	.	320697	not_provided|Syndromic_Microphthalmia,_Dominant|BMP4-Related_Syndromic_Microphthalmia|Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant|Orofacial_cleft	MedGen:C3661900|MedGen:CN239443|MedGen:CN239242|MedGen:CN239161|Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1491520594	0.1155	0.1173	0.1166	0.1144	0.1279	0.1147	0.1144	0.1269	0.1265	0.0529	0.0697	0.0985	0.0316	0.1596	0.0756	0.1279	0.1092	0.0748	0.0155	0.0167	0.0151	0.0160	0.0320	0.0150	0.0148	0.0304	0.0297	0.0320	0.0152	0.0116	0.0037	0.0024	0.0204	0.0123	0.0096	0.0105	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	901.91	3	chr14	53949883	.	CT	C,CAT,CATT	901.91	.	AC=2,6,3;AF=0.071,0.214,0.107;AN=28;BaseQRankSum=-3.340e-01;DP=118;ExcessHet=0.2065;FS=1.013;InbreedingCoeff=0.1043;MLEAC=3,8,5;MLEAF=0.107,0.286,0.179;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.00;SOR=0.560	GT:AD:DP:GQ:PL	0/2:3,0,3,0:6:72:86,95,176,0,81,72,95,176,81,176	6	0	2	7
chr14	53949883	53949883	-	AT	UTR3	BMP4	NM_001202:c.*148_*149insAT;NM_001347917:c.*148_*149insAT;NM_001347916:c.*148_*149insAT;NM_001347915:c.*148_*149insAT;NM_001347914:c.*148_*149insAT;NM_001347913:c.*148_*149insAT;NM_001347912:c.*148_*149insAT;NM_130851:c.*148_*149insAT;NM_130850:c.*148_*149insAT	.	.	Microphthalmia, syndromic 6, Autosomal dominant;Orofacial cleft 11	.	1179	237	2	4	100	110	0.0206612	.	.	338009	not_provided|Syndromic_Microphthalmia,_Dominant|BMP4-Related_Syndromic_Microphthalmia|Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant|Orofacial_cleft	MedGen:C3661900|MedGen:CN239443|MedGen:CN239242|MedGen:CN239161|Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1491520594	0.3011	0.2939	0.3014	0.3008	0.3328	0.2998	0.2993	0.3312	0.3305	0.1195	0.1983	0.2660	0.1190	0.3395	0.2447	0.3328	0.2823	0.2251	0.4100	0.4006	0.4113	0.4085	0.5414	0.4071	0.4059	0.5366	0.5347	0.1692	0.4508	0.3476	0.4195	0.1927	0.5843	0.3811	0.5414	0.3903	0.3785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	901.91	3	chr14	53949883	.	CT	C,CAT,CATT	901.91	.	AC=2,6,3;AF=0.071,0.214,0.107;AN=28;BaseQRankSum=-3.340e-01;DP=118;ExcessHet=0.2065;FS=1.013;InbreedingCoeff=0.1043;MLEAC=3,8,5;MLEAF=0.107,0.286,0.179;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.00;SOR=0.560	GT:AD:DP:GQ:PL	0/2:3,0,3,0:6:72:86,95,176,0,81,72,95,176,81,176	6	0	2	7
chr14	74505149	74505149	C	T	exonic	LTBP2	.	synonymous SNV	LTBP2:NM_000428:exon29:c.G4203A:p.T1401T,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	339072	Weill-Marchesani_syndrome|LTBP2-related_disorder|not_provided|Glaucoma_3,_primary_congenital,_D	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|.|MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00139776	0.0038	0.0008	0.0013	0	0.0056	0.0054	0.0091	0.0019	0.0035899	555	154602	rs150977380	0.0037	0.0037	0.0037	0.0036	0.0140	0.0036	0.0035	0.0116	0.0107	0.0013	0.0013	0.0235	0	0.0062	0.0140	0.0034	0.0049	0.0021	0.0030	0.0030	0.0030	0.0030	0.0040	0.0028	0.0027	0.0036	0.0034	0.0005	0	0.0010	0.0216	0	0.0054	0.0136	0.0040	0.0043	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5193.68	35	chr14	74505149	.	C	T	5193.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.70;DP=1044;ExcessHet=0.3300;FS=2.631;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-2.800e-02;SOR=0.570	GT:AD:DP:GQ:PL	0/1:64,70:134:99:1946,0,1525	18	0	3	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24	Machado-Joseph disease, Autosomal dominant	.	98	926	380	118	0	616	0.249595	.	.	390136	not_specified|not_provided|ATXN3-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3624	0.1685	0.3080	0.2350	0.3289	0.3820	0.3723	0.5076	0.0120639	314	26028	rs763461489	0.3602	0.2726	0.3598	0.3606	0.4269	0.3591	0.3586	0.4211	0.4187	0.2335	0.2356	0.4259	0.4269	0.3289	0.3968	0.3614	0.3556	0.3795	0.4786	0.4687	0.4802	0.4770	0.5397	0.4742	0.4724	0.5165	0.5072	0.4754	0.5068	0.4371	0.5341	0.4620	0.4534	0.4936	0.4840	0.4802	0.5397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	15824.71	66	chr14	92071009	.	C	CG	15824.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.151e+00;DP=1672;ExcessHet=0.7800;FS=1.838;InbreedingCoeff=-0.0717;MLEAC=14;MLEAF=0.412;MQ=59.16;MQRankSum=0.00;QD=20.52;ReadPosRankSum=0.215;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,42:80:99:.:.:1331,0,1195	7	2	8	4
chr15	45097326	45097326	C	T	exonic	DUOX2	.	synonymous SNV	DUOX2:NM_001363711:exon29:c.G3759A:p.P1253P	Thyroid dyshormonogenesis 6, Autosomal recessive	.	0	1402	105	15	0	135	0.045934	.	.	339040	not_provided|Thyroid_dyshormonogenesis_6|DUOX2-related_disorder	MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.00239617	0.0056	0.0005	0.0021	0.0001	0	0.0061	0.0143	0.0143	0.0049999	773	154602	rs140663764	0.0041	0.0041	0.0035	0.0046	0.0290	0.0040	0.0040	0.0254	0.0240	0.0005	0.0024	0.0354	0	0.0002	0.0290	0.0026	0.0073	0.0160	0.0035	0.0035	0.0031	0.0039	0.0133	0.0032	0.0031	0.0107	0.0097	0.0005	0	0.0056	0.0340	0	0.0002	0.0068	0.0033	0.0071	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04762	3221.11	35	chr15	45097326	.	C	T	3221.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.15;DP=936;ExcessHet=0.1072;FS=0.457;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=1.09;SOR=0.650	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1690,0,1533	19	0	2	0
chr15	48299282	48299282	A	T	intronic	SLC12A1	.	.	.	Bartter syndrome, type 1, Autosomal recessive	.	26	1490	6	0	0	6	0.00200938	0.0001	0.002	339186	Bartter_disease_type_1|not_specified|not_provided	MONDO:MONDO:0100344,MedGen:C1866495,OMIM:601678,Orphanet:112,Orphanet:620217|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.000399361	0.0011	0	0.0009	0	0	0.0016	0.0031	0.0008	0.0007568	117	154602	rs200662267	0.0006	0.0006	0.0006	0.0007	0.0027	0.0006	0.0006	0.0017	0.0013	0.0001	0.0009	0.0079	0	0	0.0027	0.0005	0.0010	0.0006	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0005	0.0004	0.0001	0	0.0007	0.0095	0	0	0.0034	0.0006	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	994.98	40	chr15	48299282	.	A	T	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.570;DP=798;ExcessHet=0.0000;FS=0.950;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-9.180e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/1:33,37:70:99:1009,0,857	20	0	1	0
chr15	50586433	50586433	G	A	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon28:c.C4445T:p.T1482I	.	.	433	876	190	23	0	236	0.118712	.	.	19846	not_provided|TRPM7-related_disorder|Amyotrophic_lateral_sclerosis-parkinsonism/dementia_complex_1,_susceptibility_to|Juvenile_amyotrophic_lateral_sclerosis	MedGen:C3661900|.|.|MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.186	B	0.098	B	0.953	N	0.717	P	0.55	N	0.53	T	-1.053	T	0.002	T	0.054	1.637	11.43	2.19	0.380	1.970	2.709	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	4020.68	35	chr15	50586433	.	G	A	4020.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.950e-01;DP=1048;ExcessHet=0.3300;FS=0.799;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.083;SOR=0.753	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1364,0,1307	18	0	3	0
chr15	53523331	53523332	AG	-	intronic	WDR72	.	.	.	Amelogenesis imperfecta, type IIA3, Autosomal recessive	.	14	784	401	71	252	795	0.257224	.	.	340892	not_provided|Amelogenesis_Imperfecta,_Recessive|WDR72-related_disorder	MedGen:C3661900|MedGen:CN239209|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2306	0.2143	0.2694	0.3617	0.1755	0.2088	0.2154	0.2560	0.0028913	447	154602	rs112552047	0.0994	0.1689	0.0975	0.1014	0.2643	0.0989	0.0987	0.2589	0.2567	0.1268	0.1416	0.1098	0.2643	0.1076	0.0653	0.0894	0.1105	0.1377	0.0150	0.0172	0.0147	0.0154	0.0702	0.0145	0.0143	0.0642	0.0618	0.0283	0.0077	0.0060	0.0015	0.0702	0.0031	0.0034	0.0057	0.0146	0.0399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	13790.18	34	chr15	53523330	.	AAG	AAGAG,AAGAGAG,A	13790.18	.	AC=3,12,1;AF=0.071,0.286,0.024;AN=42;BaseQRankSum=0.00;DP=1235;ExcessHet=0.3152;FS=0.576;InbreedingCoeff=0.1923;MLEAC=3,12,1;MLEAF=0.071,0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=21.82;ReadPosRankSum=0.452;SOR=0.796	GT:AD:DP:GQ:PL	0/2:25,3,18,0:46:99:667,500,1285,0,812,1029,732,1414,1104,1935	9	0	0	0
chr15	57544498	57544498	T	C	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon16:c.T3401C:p.I1134T	.	.	.	.	.	.	.	.	.	.	.	3216048	not_specified|CGNL1-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.793	N	0.816	N	-1.385	N	-1.05	T	-0.949	T	0.151	T	0.13	1.768	11.87	3.43	0.420	1.504	9.942	0.165	0.0148160318519	0.0006	0.00119808	0.0002	0.0019	0.0002	0	0	0	0	0	0.0001682	26	154602	rs145843105	5.952e-05	5.951e-05	8.032e-05	3.851e-05	0.0019	4.883e-05	4.562e-05	0.0015	0.0013	0.0019	0.0002	0	0	0	0	2.698e-06	0.0002	0	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0004	0.0016	0.0015	0.0019	0	0.0004	0	0	0	0	0	0.0005	0	0.33	0.13131	T	0.328	0.18675	T	0.0	0.02946	B	0.001	0.04355	B	0.792890	0.06722	N	1.106850	0.816236	0.28939	N	-1.1	0.00987	N	-1.05	0.76690	T	-0.73	0.20576	N	0.284	0.32148	-0.9485	0.41228	T	0.151	0.47856	T	10	0.0085784495	0.00194	T	0.014816	0.35183	T	0.165	0.42395	.	.	0.467247493403	0.46351	0.02464624071553414	0.02415	0.0192354167532	0.01881	0.354584932327	0.18594	T	0.055719	0.30087	T	-0.475901	0.00782	T	-0.462543	0.26321	T	0.0159312689139693	0.00377	T	0.668933	0.27772	T	0.03061201	0.02756	0.049776383	0.07678	0.03061201	0.02755	0.049776383	0.07678	-2.221	0.04143	T	.	.	0.142	0.31253	B	.	.	1.941015	0.24657	16.48	0.93293560172575685	0.23002	0.59568	0.30951	D	AEFDBI	0.091219	0.18478	N	-0.71313752099941	0.15652	0.7906704	-0.472788303605854	0.22906	1.246531	0.999970289531557	0.50053	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	3.43	0.38372	1.530000	0.35613	2.371000	0.32429	0.644000	0.52426	0.675000	0.28393	0.997000	0.33255	0.991000	0.66497	0.0:0.1444:0.0:0.8556	9.942	0.40756	369	0.84396	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1791.98	33	chr15	57544498	.	T	C	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.174e+00;DP=1252;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=0.267;SOR=0.660	GT:AD:DP:GQ:PL	0/1:118,80:198:99:1806,0,3377	20	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	79118.81	83	chr15	59256276	.	C	T	79118.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=2.30;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=1.38;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,124:124:99:3494,371,0	0	21	0	0
chr15	68207980	68207983	ACAC	-	UTR3	CLN6	NM_017882:c.*160_*157delGTGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	205	10	0	6	5	17	0.375	.	.	341232	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_provided	MedGen:CN239323|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs141886537	0.4732	0.4569	0.4793	0.4678	0.5300	0.4716	0.4709	0.5278	0.5268	0.3809	0.4432	0.4817	0.1587	0.4999	0.4595	0.5300	0.4818	0.3368	0.4804	0.4792	0.4870	0.4734	0.5565	0.4774	0.4762	0.5518	0.5498	0.3924	0.4592	0.4948	0.4910	0.1749	0.5171	0.5274	0.5565	0.4919	0.3444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7778	4747.06	3	chr15	68207979	.	GACAC	G,GACACAC	4747.06	.	AC=14,18;AF=0.389,0.500;AN=36;BaseQRankSum=-4.310e-01;DP=175;ExcessHet=0.8031;FS=1.245;InbreedingCoeff=0.1441;MLEAC=15,20;MLEAF=0.417,0.556;MQ=60.00;MQRankSum=0.00;QD=33.91;ReadPosRankSum=-5.450e-01;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,7:7:21:.:.:248,248,248,21,21,0	0	4	2	3
chr15	89285100	89285100	A	G	exonic	FANCI	.	nonsynonymous SNV	FANCI:NM_001113378:exon18:c.A1703G:p.H568R	Fanconi anemia, complementation group I	.	0	1521	1	0	0	1	0.000328623	.	.	529450	Fanconi_anemia_complementation_group_I|Fanconi_anemia|FANCI-related_disorder	MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.004	B	0.002	B	0.005	N	1.000	D	1.61	L	1.62	T	-1.055	T	0.041	T	0.255	0.235	5.269	-4.29	-1.115	2.880	1.124	0.126	0.00240999674037	.	0.000998403	0.0004	0	0	0	0	0	0.0011	0.0026	0.0003169	49	154602	rs555480773	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	4.497e-06	0.0001	0.0025	5.91e-05	6.562e-05	5.141e-05	6.713e-05	0.0019	3.075e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.459	0.08762	T	0.22	0.26066	T	0.004	0.12183	B	0.002	0.06944	B	0.004681	0.33486	N	0.374940	0.999204	0.21509	N	1.1	0.28011	L	1.62	0.28189	T	-0.42	0.14978	N	0.296	0.33469	-1.0554	0.12934	T	0.041	0.17446	T	10	0.0076642036	0.00174	T	0.00241	0.04729	T	0.126	0.34673	0.25	0.18757	0.201204373187	0.19734	0.16220117922469793	0.16140	0.0159091030444	0.01523	0.385336816311	0.23010	T	0.054042	0.29613	T	-0.520433	0.00437	T	-0.52558	0.19731	T	0.0187088320047595	0.00584	T	0.729627	0.35112	T	0.019691292	0.00505	0.0293901	0.01272	0.018966703	0.00421	0.030667955	0.01550	-1.995	0.03162	T	0.2526359573915917	0.34178	0.074	0.05188	B	.;.	.;.	1.666075	0.21242	15.11	0.3749864601610039	0.02474	0.93029	0.57147	D	AEFDBI	0.331164	0.43098	N	-0.722341876853262	0.15395	0.7754516	-0.713636403176714	0.16621	0.880153	0.926518999595635	0.26854	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	-4.29	0.03465	2.871000	0.48157	2.044000	0.30313	0.756000	0.94297	0.986000	0.36153	0.000000	0.08366	0.998000	0.85391	0.4597:0.1125:0.2316:0.1962	1.124	0.01625	935	0.14827	.;FANCI helical domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1213.98	33	chr15	89285100	.	A	G	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.124e+00;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.06;ReadPosRankSum=-6.700e-02;SOR=0.642	GT:AD:DP:GQ:PL	0/1:74,60:134:99:1228,0,1832	20	0	1	0
chr15	89319006	89319006	C	T	exonic	POLG	.	synonymous SNV	POLG:NM_001126131:exon20:c.G3198A:p.T1066T	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	0	1462	57	3	0	63	0.0210914	.	.	142459	Hereditary_spastic_paraplegia|POLG-Related_Spectrum_Disorders|not_provided|Progressive_sclerosing_poliodystrophy|Inborn_genetic_diseases|not_specified	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00579073	0.0063	0.0018	0.0038	0.0002	0.0041	0.0066	0.0033	0.0138	0.0062418	965	154602	rs61752780	0.0074	0.0074	0.0073	0.0075	0.0130	0.0073	0.0072	0.0124	0.0122	0.0015	0.0035	0.0019	0.0002	0.0035	0.0055	0.0079	0.0073	0.0130	0.0049	0.0049	0.0050	0.0048	0.0108	0.0046	0.0045	0.0085	0.0076	0.0013	0	0.0031	0.0009	0.0002	0.0036	0.0102	0.0079	0.0061	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	1	0.02381	2171.98	34	chr15	89319006	.	C	T	2171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=879;ExcessHet=0.0000;FS=1.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.454;SOR=0.804	GT:AD:DP:GQ:PL	0/1:93,78:171:99:2186,0,2552	20	0	1	0
chr16	3254626	3254626	C	G	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon2:c.G442C:p.E148Q,	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	YES	2	1242	263	15	0	293	0.10551	.	.	17581	Familial_Mediterranean_fever|Familial_Mediterranean_fever,_autosomal_dominant|not_specified|not_provided|Autoinflammatory_syndrome|Acute_febrile_neutrophilic_dermatosis|Inborn_genetic_diseases|MEFV-related_disorder|See_cases	MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MeSH:D030342,MedGen:C0950123|.|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.851	P	0.003	N	0.913	P	1.1	L	-1.07	T	-1.103	T	0.000	T	0.597	3.078	16.28	3.44	1.441	1.142	8.711	0.274	.	0.0112	0.126398	0.0900	0.0184	0.0217	0.3150	0.0013	0.0197	0.0716	0.3018	0.0641648	9920	154602	rs3743930	0.0377	0.0376	0.0305	0.0450	0.2802	0.0374	0.0373	0.2772	0.2760	0.0171	0.0133	0.0539	0.2546	0.0019	0.0650	0.0131	0.0511	0.2802	0.0329	0.0330	0.0280	0.0380	0.2988	0.0321	0.0318	0.2860	0.2808	0.0159	0	0.0191	0.0582	0.2795	0.0018	0.0714	0.0127	0.0317	0.2988	0.007	0.59928	D	0.011	0.64786	D	0.995	0.67487	D	0.851	0.60700	P	0.003372	0.35041	N	0.131490	1	0.27475	P	1.83	0.48079	L	-1.07	0.76948	T	-1.3	0.32590	N	0.125	0.11769	-1.1028	0.03768	T	0.000	0.00039	T	9	0.0055573583	0.00123	T	.	.	.	0.274	0.59007	.	.	.	.	0.514001947169189	0.51322	0.534422499708	0.50847	0.454673349857	0.32582	T	0.400125	0.75778	T	-0.397484	0.02405	T	-0.199914	0.54654	T	0.0123424584187742	0.00201	T	0.79572	0.43862	T	0.1393041	0.32184	0.087836124	0.20442	0.12762725	0.29860	0.088540226	0.20650	-4.015	0.24027	T	.	.	0.132	0.28607	B	.	.	2.968483	0.39555	21.0	0.99364470562835017	0.61155	0.13031	0.17624	N	AEFDBI	0.123919	0.23974	N	-0.142306821722336	0.35564	2.044299	-0.309833529502108	0.27781	1.543952	0.999995932073785	0.74766	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.39	3.44	0.38486	0.734000	0.25769	.	.	0.599000	0.40250	0.027000	0.20232	0.930000	0.28522	0.049000	0.15107	0.0:0.898:0.0:0.102	8.711	0.33543	779	0.47767	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	2702.68	31	chr16	3254626	.	C	G	2702.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.73;DP=824;ExcessHet=0.3300;FS=0.607;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=16.58;ReadPosRankSum=1.44;SOR=0.796	GT:AD:DP:GQ:PL	0/1:19,39:58:99:1225,0,495	18	0	3	0
chr16	10877247	10877247	C	T	UTR5	CIITA	NM_000246:c.-84C>T;NM_001286402:c.-84C>T;NM_001286403:c.-84C>T;NM_001379333:c.-84C>T;NM_001379332:c.-84C>T;NM_001379331:c.-84C>T;NM_001379330:c.-84C>T	.	.	Bare lymphocyte syndrome, type II, complementation group A, Autosomal recessive	.	4	1485	32	1	0	34	0.0113182	.	.	874563	MHC_class_II_deficiency|not_provided	MONDO:MONDO:0008855,MedGen:C2931418,OMIM:PS209920,Orphanet:572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0009508	147	154602	rs45519531	0.0059	0.0059	0.0059	0.0059	0.0337	0.0058	0.0057	0.0291	0.0273	0.0027	0.0045	0.0182	0	0.0011	0.0337	0.0063	0.0076	0.0031	0.0046	0.0046	0.0049	0.0042	0.0060	0.0043	0.0042	0.0055	0.0053	0.0018	0	0.0060	0.0190	0.0002	0.0007	0.0306	0.0060	0.0099	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	330.98	35	chr16	10877247	.	C	T	330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=584;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-1.246e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/1:15,11:26:99:345,0,446	20	0	1	0
chr16	15725135	15725135	A	-	UTR3	NDE1	NM_001143979:c.*884delA;NM_017668:c.*884delA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	500	719	142	6	155	309	0.0967337	.	.	333972	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1305880573	0.1861	0.1425	0.1870	0.1852	0.2867	0.1849	0.1844	0.2782	0.2747	0.2867	0.2002	0.1976	0.2168	0.2046	0.2114	0.1792	0.1980	0.1522	0.0833	0.0835	0.0830	0.0835	0.2302	0.0820	0.0814	0.2261	0.2244	0.2302	0	0.0405	0.0239	0.0395	0.0450	0.0187	0.0183	0.0628	0.0215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4750.45	99	chr16	15725134	.	TA	T,TAA	4750.45	.	AC=5,9;AF=0.119,0.214;AN=42;BaseQRankSum=-1.360e-01;DP=2854;ExcessHet=14.4320;FS=1.194;InbreedingCoeff=-0.5163;MLEAC=5,9;MLEAF=0.119,0.214;MQ=60.00;MQRankSum=0.00;QD=3.13;ReadPosRankSum=0.858;SOR=0.574	GT:AD:DP:GQ:PL	0/2:98,12,17:128:28:28,204,2795,0,2152,2467	7	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8497.7	6	chr16	89816740	.	A	AGGCCTTGCGTCGT	8497.7	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.389;DP=389;ExcessHet=0.0321;FS=22.573;InbreedingCoeff=0.3750;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=30.65;ReadPosRankSum=0.524;SOR=0.064	GT:AD:DP:GQ:PL	0/1:7,6:13:99:210,0,276	10	5	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	YES	.	.	.	.	.	.	.	1.0000	0.938	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.095	12.96	5.06	2.751	6.097	18.302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2024.09	102	chr17	3648932	.	G	C	2024.09	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.410e+00;DP=2311;ExcessHet=20.9642;FS=326.408;InbreedingCoeff=-0.6490;MLEAC=17;MLEAF=0.425;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.04;SOR=11.378	GT:AD:DP:GQ:PL	0/1:64,25:104:21:21,0,1080	4	0	16	1
chr17	11690117	11690117	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon20:c.G4295A:p.G1432D,	.	.	417	1099	5	1	0	7	0.0031746	.	.	1610349	not_provided|DNAH9-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.023	B	0.169	B	0.041	N	1.000	D	1.825	L	0.19	T	-0.980	T	0.165	T	0.194	2.362	13.86	-0.284	0.365	2.290	9.524	0.115	0.00910412407893	0.0002	0.000998403	0.0006	0	0	0	0	0.0001	0	0.0038	0.0005045	78	154602	rs200329184	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0026	0.0025	2.987e-05	2.236e-05	0	0	3.744e-05	0.0012	0.0001	0.0002	0.0029	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0	0	0	0	0	0	0	0.0002	0	0.0029	0.08	0.33585	T	.	.	.	0.023	0.18885	B	0.169	0.35248	B	0.040798	0.24019	N	0.441952	0.990746	0.24130	N	1.56	0.39490	L	0.19	0.60236	T	-3.56	0.69950	D	0.332	0.37301	-0.9799	0.35025	T	0.165	0.50193	T	10	0.013894051	0.00293	T	0.009104	0.23941	T	0.115	0.32236	.	.	0.578164481777	0.57486	0.3210947763078606	0.32022	0.123906577991	0.13947	0.363995015621	0.19966	T	0.235957	0.60334	T	-0.478231	0.00758	T	-0.462144	0.26366	T	0.0771805126986451	0.09623	T	0.906909	0.67118	D	0.2114059	0.43464	0.24774717	0.50311	0.2114059	0.43464	0.24774717	0.50310	-9.799	0.72699	D	.	.	0.186	0.40131	B	.;.	.;.	2.304205	0.29484	18.14	0.9749250263275191	0.34251	0.93936	0.59622	D	AEFBI	0.386486	0.46683	N	-0.391941389838108	0.25754	1.400486	-0.341494779843728	0.26773	1.481009	3.44713132699852E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.84	-0.284	0.12233	2.353000	0.43744	0.233000	0.16214	0.676000	0.76740	0.997000	0.40164	0.002000	0.18203	0.994000	0.71098	0.1339:0.3239:0.5422:0.0	9.524	0.38320	883	0.28872	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2034.98	34	chr17	11690117	.	G	A	2034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=857;ExcessHet=0.0000;FS=2.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-3.510e-01;SOR=0.949	GT:AD:DP:GQ:PL	0/1:77,69:146:99:2049,0,2223	20	0	1	0
chr17	18126364	18126364	C	T	exonic	MYO15A	.	synonymous SNV	MYO15A:NM_016239:exon5:c.C3774T:p.I1258I,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	175933	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00159744	0.0024	0.0008	0.0014	0.0001	0.0008	0.0034	0.0022	0.0022	0.0025355	392	154602	rs148723625	0.0034	0.0034	0.0034	0.0034	0.0039	0.0033	0.0033	0.0038	0.0038	0.0005	0.0023	0.0003	0	0.0005	0.0024	0.0039	0.0035	0.0019	0.0024	0.0024	0.0023	0.0024	0.0038	0.0022	0.0021	0.0035	0.0033	0.0008	0	0.0032	0.0003	0	0.0007	0	0.0038	0.0028	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	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	1	0.02381	838.98	40	chr17	18126364	.	C	T	838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.082;SOR=0.664	GT:AD:DP:GQ:PL	0/1:44,33:77:99:853,0,1056	20	0	1	0
chr17	18136695	18136695	G	A	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	2	1512	8	0	0	8	0.00263852	.	.	54912	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided|MYO15A-related_disorder	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.000798722	0.0034	0.0010	0.0022	0.0010	0.0016	0.0048	0.0021	0.0023	0.0022898	354	154602	rs183256997	0.0033	0.0033	0.0033	0.0033	0.0042	0.0032	0.0032	0.0037	0.0037	0.0006	0.0022	0.0003	7.695e-05	0.0005	0.0042	0.0038	0.0034	0.0017	0.0021	0.0021	0.0022	0.0020	0.0037	0.0019	0.0019	0.0034	0.0032	0.0009	0	0.0012	0	0	0.0007	0	0.0037	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	943.98	39	chr17	18136695	.	G	A	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.94;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.15;ReadPosRankSum=0.602;SOR=0.693	GT:AD:DP:GQ:PL	0/1:22,30:52:99:958,0,593	20	0	1	0
chr17	61483613	61483613	-	GTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	345241	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003816	59	154602	rs149977669	0.0352	0.0418	0.0350	0.0354	0.0661	0.0348	0.0347	0.0628	0.0614	0.0661	0.0292	0.0748	0.0235	0.0349	0.0442	0.0336	0.0422	0.0325	0.0615	0.0639	0.0624	0.0604	0.0928	0.0604	0.0599	0.0901	0.0890	0.0928	0.0338	0.0454	0.0856	0.0393	0.0354	0.0772	0.0530	0.0633	0.0469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	2/5:0,0,9,0,0,5,0:14:94:.:.:494,436,413,122,121,94,436,413,121,413,436,413,121,413,413,237,233,0,233,233,196,436,413,121,413,413,233,413	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	346649	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004204	65	154602	rs149977669	0.0376	0.0398	0.0379	0.0373	0.0493	0.0372	0.0370	0.0464	0.0453	0.0493	0.0324	0.0746	0.0068	0.0466	0.0411	0.0397	0.0465	0.0165	0.0777	0.0806	0.0796	0.0757	0.0931	0.0765	0.0760	0.0911	0.0903	0.0654	0.1030	0.0654	0.1510	0.0092	0.0656	0.0846	0.0931	0.0777	0.0204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	2/5:0,0,9,0,0,5,0:14:94:.:.:494,436,413,122,121,94,436,413,121,413,436,413,121,413,413,237,233,0,233,233,196,436,413,121,413,413,233,413	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	2/5:0,0,9,0,0,5,0:14:94:.:.:494,436,413,122,121,94,436,413,121,413,436,413,121,413,413,237,233,0,233,233,196,436,413,121,413,413,233,413	2	1	3	0
chr17	63493576	63493576	T	C	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382702:exon8:c.T791C:p.I264T	Renal tubular dysgenesis, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	878085	Renal_tubular_dysgenesis|not_provided	Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.999	D	0.000	D	1.000	D	3.705	H	0.9	T	-0.014	T	0.369	T	0.957	2.466	14.21	4.91	1.835	8.005	14.540	0.622	0.0583919575628	0.0012	0.00139776	0.0004	0.0029	0.0007	0.0001	0	1.5e-05	0.0011	0.0006	0.0004204	65	154602	rs4976	0.0002	0.0002	0.0002	0.0002	0.0032	0.0002	0.0002	0.0027	0.0025	0.0032	0.0004	3.826e-05	0.0009	1.872e-05	0.0009	0.0001	0.0004	0.0006	0.0012	0.0012	0.0013	0.0011	0.0037	0.0010	0.0010	0.0032	0.0030	0.0037	0	0.0010	0	0.0006	0	0	5.881e-05	0	0.0006	0.001	0.78490	D	0.002	0.83351	D	0.999	0.77913	D	0.988	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.685	0.94485	H	0.9	0.45248	T	-3.35	0.74742	D	0.869	0.86618	-0.0143	0.81957	T	0.369	0.72857	T	10	0.04877478	0.04375	T	0.058392	0.67303	D	0.622	0.85354	.	.	0.920136614771	0.91933	0.5378218431907178	0.53707	0.530389991159	0.50578	0.495788037777	0.38240	T	0.343915	0.71250	T	-0.0298869	0.47434	T	0.183773	0.82213	D	0.098841798284766	0.12229	T	0.986001	0.95258	D	0.91994774	0.93242	0.8276723	0.90034	0.9532661	0.96599	0.8856319	0.93958	-10.423	0.76403	D	0.6418762351831973	0.71272	0.375	0.63684	A	.;.;.;.	.;.;.;.	4.785230	0.77595	26.7	0.96480093863898186	0.29967	0.94026	0.59890	D	AEFDBCI	0.958460	0.97826	D	0.878069165961534	0.90643	10.499	0.777282027812489	0.88173	9.484075	0.999998139639061	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	4.91	4.91	0.63897	7.979000	0.87701	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.865000	0.41091	0.0:0.0:0.0:1.0	14.540	0.67572	937	0.14592	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1135.98	33	chr17	63493576	.	T	C	1135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.194e+00;DP=797;ExcessHet=0.0000;FS=1.597;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-4.120e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1150,0,1394	20	0	1	0
chr17	75843245	75843245	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon3:c.G175A:p.A59T,	Hemophagocytic lymphohistiocytosis, familial, 3	YES	1	1336	170	15	0	200	0.0696379	.	.	256450	not_specified|Familial_hemophagocytic_lymphohistiocytosis_3|Autoinflammatory_syndrome	MedGen:CN169374|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.005	B	0.002	B	0.032	N	0.648	N	1.355	L	-0.53	T	-0.837	T	0.095	T	0.031	2.618	14.71	3.89	1.033	1.378	11.340	0.075	.	0.0161	0.0155751	0.0159	0.0137	0.0179	0.0005	0.0019	0.0182	0.0284	0.0196	0.0154073	2382	154602	rs9904366	0.0141	0.0141	0.0133	0.0148	0.1318	0.0139	0.0139	0.1240	0.1209	0.0168	0.0152	0.0625	5.038e-05	0.0015	0.1318	0.0124	0.0204	0.0206	0.0145	0.0145	0.0150	0.0140	0.0224	0.0140	0.0138	0.0190	0.0177	0.0129	0.0230	0.0164	0.0735	0.0006	0.0008	0.1122	0.0136	0.0294	0.0224	0.041	0.41915	D	0.349	0.18732	T	0.005	0.12996	B	0.002	0.06944	B	0.032492	0.25022	N	0.382752	0.648271	0.30556	N	1.7	0.43825	L	-0.53	0.79072	T	-1.57	0.40468	N	0.079	0.05414	-0.8373	0.52826	T	0.095	0.35924	T	10	0.0044733584	0.00092	T	.	.	.	0.075	0.21907	.	.	.	.	0.27349341922199	0.27262	0.0954696783564	0.10785	0.415600240231	0.27230	T	0.274639	0.64714	T	-0.518305	0.00450	T	-0.50103	0.22241	T	0.00818269309861062	0.00098	T	0.726827	0.37500	T	0.055480037	0.10788	0.1159988	0.28004	0.071086764	0.15709	0.11007209	0.26536	-7.332	0.56422	T	0.4515954250924326	0.53531	0.130	0.34819	B	.;.;.;.;.	.;.;.;.;.	2.890299	0.38275	20.7	0.99666906948177392	0.78330	0.73832	0.36113	D	AEFDBHCIJ	0.230731	0.35406	N	-0.355012734322899	0.27089	1.483451	-0.240752692367709	0.30090	1.691322	0.999999997976585	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.478664	0.07449	1	0.655142	0.61905	0	.	.	4.86	3.89	0.44098	1.873000	0.39195	3.220000	0.36848	-0.190000	0.09434	1.000000	0.71638	0.998000	0.33993	0.561000	0.30436	0.0:0.9145:0.0:0.0855	11.340	0.48768	929	0.16858	.;.;.;.;.	ACOX1|CDK3|WBP2	Adrenal_Gland|Cells_Cultured_fibroblasts|Esophagus_Mucosa	.	.	rs9904366	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	1	0	0.07143	5838.68	94	chr17	75843245	.	C	T	5838.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.29;DP=1867;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=1.03;SOR=0.665	GT:AD:DP:GQ:PL	0/1:94,92:186:99:2275,0,2174	18	0	3	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|Psoriasis_2|Pityriasis_rubra_pilaris	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	58196.26	104	chr17	80184264	.	G	A	58196.26	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.515;DP=2582;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=23.56;ReadPosRankSum=0.827;SOR=0.756	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1453,0,1539	0	12	9	0
chr19	11236849	11236849	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon19:c.G2104A:p.G702S	Adams-Oliver syndrome 2, Autosomal recessive	.	0	1481	38	3	0	44	0.0146374	.	.	514258	not_provided|Adams-Oliver_syndrome_2|DOCK6-related_disorder	MedGen:C3661900|MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.734	P	0.211	B	0.000	D	0.777	D	2.205	M	1.69	T	-0.939	T	0.056	T	0.209	3.415	17.54	3.62	2.148	4.448	5.400	0.093	.	0.0008	0.00199681	0.0062	0.0009	0.0047	0	0.0192	0.0028	0.0053	0.0120	0.0014553	225	154602	rs199838752	0.0019	0.0019	0.0015	0.0022	0.0118	0.0018	0.0018	0.0112	0.0109	0.0001	0.0008	0.0040	2.778e-05	0.0015	0.0091	0.0012	0.0023	0.0118	0.0013	0.0013	0.0013	0.0013	0.0087	0.0012	0.0011	0.0066	0.0059	0.0004	0	0.0007	0.0055	0.0002	0.0016	0.0136	0.0013	0.0014	0.0087	0.017	0.51248	D	0.321	0.19073	T	0.586	0.38931	P	0.211	0.37346	B	0.000237	0.47286	D	0.173369	0.776653	0.34216	D	1.72	0.44442	L	1.69	0.27032	T	-3.76	0.71276	D	0.271	0.30687	-0.9394	0.42711	T	0.056	0.23639	T	10	0.00919348	0.00208	T	.	.	.	0.093	0.26882	.	.	0.414281671643	0.41045	0.5572741867770362	0.55654	0.352166808134	0.37058	0.556195914745	0.46730	T	0.138703	0.47233	T	-0.514771	0.00472	T	-0.502814	0.22056	T	0.0360450584337314	0.02988	T	0.812119	0.46368	T	0.19699134	0.41548	0.23599456	0.48859	0.19699134	0.41547	0.23599456	0.48858	-4.96	0.36403	T	.	.	0.081	0.08176	B	.	.	3.503437	0.49029	22.7	0.99803746337406507	0.88817	0.73063	0.35744	D	AEFDBHCIJ	0.244935	0.36595	N	0.255939982699271	0.53933	3.560307	0.281550120516721	0.54463	3.611177	0.999999985886754	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.66	3.62	0.40616	3.157000	0.50414	.	.	0.599000	0.40250	0.929000	0.32243	0.999000	0.35428	0.940000	0.48062	0.0:0.7138:0.0:0.2862	5.400	0.15591	830	0.39242	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 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	0.07143	7920.66	59	chr19	11236849	.	C	T	7920.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.674;DP=1201;ExcessHet=0.0000;FS=1.859;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.27;ReadPosRankSum=1.49;SOR=0.572	GT:AD:DP:GQ:PL	1/1:0,162:162:99:5216,486,0	19	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1140.66	32	chr19	17826670	.	A	G	1140.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.636e+00;DP=542;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6409;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.81;ReadPosRankSum=0.559;SOR=0.559	GT:AD:DP:GQ:PL	1/1:0,23:23:69:806,69,0	19	1	1	0
chr19	33302013	33302013	C	T	exonic	CEBPA	.	synonymous SNV	CEBPA:NM_001285829:exon1:c.G45A:p.A15A	Leukemia, acute myeloid, somatic	.	18	1500	4	0	0	4	0.00133156	.	.	243325	Hereditary_cancer-predisposing_syndrome|Acute_myeloid_leukemia|not_specified|not_provided|CEBPA-related_disorder	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	0	0.0005763	15	26028	rs752254340	0.0027	0.0023	0.0026	0.0027	0.0028	0.0026	0.0025	0.0027	0.0026	0.0004	0.0012	0.0039	9.327e-05	0.0056	0.0008	0.0028	0.0021	0.0017	0.0028	0.0029	0.0026	0.0030	0.0043	0.0026	0.0025	0.0039	0.0037	0.0002	0.0210	0.0024	0.0041	0	0.0057	0	0.0043	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	748.18	30	chr19	33302013	.	C	T	748.18	.	AC=2;AF=0.048;AN=42;DP=410;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9381;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.01;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,22:22:66:776,66,0	20	1	0	0
chr19	41981616	41981616	C	T	exonic	ATP1A3	.	synonymous SNV	ATP1A3:NM_001256213:exon11:c.G1356A:p.A452A	Alternating hemiplegia of childhood 2, Autosomal dominant;CAPOS syndrome, Autosomal dominant;Dystonia-12, Autosomal dominant	.	0	1508	14	0	0	14	0.00462046	.	.	167771	not_provided|Alternating_hemiplegia_of_childhood_2|not_specified|Dystonia_12	MedGen:C3661900|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MedGen:CN169374|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00239617	0.0077	0.0014	0.0010	0.0005	0.0091	0.0119	0.0066	0.0027	0.0078136	1208	154602	rs34578730	0.0101	0.0101	0.0102	0.0100	0.0119	0.0100	0.0099	0.0118	0.0117	0.0013	0.0014	0.0010	0.0006	0.0100	0.0021	0.0119	0.0084	0.0035	0.0062	0.0062	0.0063	0.0061	0.0107	0.0059	0.0057	0.0100	0.0098	0.0015	0.0044	0.0016	0.0014	0.0002	0.0092	0	0.0107	0.0028	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	1	0.02381	2687.98	36	chr19	41981616	.	C	T	2687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=913;ExcessHet=0.0000;FS=1.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.460;SOR=0.859	GT:AD:DP:GQ:PL	0/1:101,98:199:99:2702,0,2667	20	0	1	0
chr19	45364541	45364541	G	A	exonic	ERCC2	.	nonsynonymous SNV	ERCC2:NM_001130867:exon7:c.C529T:p.H177Y	Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy 1, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group D, Autosomal recessive	.	1	1511	10	0	0	10	0.00329815	.	.	537335	Xeroderma_pigmentosum|ERCC2-related_disorder|Xeroderma_pigmentosum,_group_D|not_provided	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:CN239291|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.64	T	0.005	B	0.049	B	0.000	D	1.000	D	1.015	L	0.94	T	-0.844	T	0.219	T	0.578	0.254	5.371	4.62	2.544	8.839	15.334	0.225	0.0401438075216	0.0002	0.000599042	0.0006	0	0	0	0	0.0004	0	0.0032	0.0005433	84	154602	rs1799792	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0030	0.0029	0	2.236e-05	0	0	0	0.0040	0.0001	0.0005	0.0034	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	2.407e-05	0	0.0004	0	0	0	0.0034	0.0003	0.0014	0.0027	1.0	0.06869	T	1.0	0.26714	T	0.001	0.07471	B	0.008	0.16012	B	0.000000	0.84330	D	0.050291	1	0.81001	D	1.285	0.32305	L	-0.54	0.70950	T	-1.12	0.36980	N	0.605	0.62611	-0.8444	0.52352	T	0.219	0.58124	T	10	0.01468423	0.00309	T	0.040144	0.59213	D	0.225	0.52323	.	.	0.775247337891	0.77318	0.6486783814286253	0.64803	0.245544508446	0.27076	0.840005278587	0.88095	D	0.192389	0.54753	T	-0.259772	0.12925	T	-0.149285	0.59307	T	0.151370365967885	0.17212	T	0.973803	0.96541	D	0.2257135	0.45238	0.2307182	0.48183	0.38624778	0.59765	0.2887532	0.54892	-6.795	0.52522	T	0.16516382062720875	0.20456	0.092	0.38569	B	.;.;.;.;.	.;.;.;.;.	3.912177	0.57055	23.8	0.44557588519036645	0.03434	0.99419	0.95789	D	AEFDBI	0.939289	0.93968	D	-0.0654711444514696	0.38913	2.286578	0.114652029528427	0.45296	2.79539	0.999999998918634	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.62	4.62	0.56946	8.872000	0.91982	11.704000	0.94545	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	15.334	0.73949	889	0.27310	DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	594.98	44	chr19	45364541	.	G	A	594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=0.226;SOR=0.735	GT:AD:DP:GQ:PL	0/1:15,19:34:99:609,0,386	20	0	1	0
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	.	65	466	590	401	0	1392	0.598967	.	.	334414	Spermatogenic_Failure|not_provided	MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	15157.31	51	chr19	57231146	.	G	GC	15157.31	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.507;DP=1282;ExcessHet=3.4384;FS=0.000;InbreedingCoeff=-0.1455;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=0.460;SOR=0.668	GT:AD:DP:GQ:PL	0/1:58,19:77:99:388,0,1654	5	4	12	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	YES	0	589	691	242	0	1175	0.499363	.	.	257346	Corneal_dystrophy|Corneal_dystrophy-perceptive_deafness_syndrome|Congenital_hereditary_endothelial_dystrophy_of_cornea|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603|MedGen:CN169374|MedGen:C3661900	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	1	1	0.3333	35431.43	188	chr20	3234173	.	T	G	35431.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.203e+00;DP=2845;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-5.900e-02;SOR=0.710	GT:AD:DP:GQ:PL	0/1:126,114:240:99:2524,0,2983	9	2	10	0
chr20	3889432	3889432	-	G	exonic	PANK2	.	frameshift insertion	PANK2:NM_001324192:exon1:c.333dupG:p.L115Afs*66	HARP syndrome, Autosomal recessive;Neurodegeneration with brain iron accumulation 1, Autosomal recessive	.	2	1347	162	10	1	183	0.0632823	.	.	1315110	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0011	3.84e-05	1	26028	rs529267374	3.404e-05	3.694e-05	2.247e-05	4.583e-05	0.0005	2.636e-05	2.331e-05	0.0004	0.0003	0	0	0	0	2.506e-05	0	1.833e-06	8.54e-05	0.0005	1.97e-05	1.969e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3297.39	35	chr20	3889432	.	T	A,TG	3297.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.640;DP=907;ExcessHet=0.3300;FS=2.747;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.397;SOR=0.876	GT:AD:DP:GQ:PL	0/1:54,59,0:113:99:1531,0,1309,1693,1486,3179	18	0	2	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:606391,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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	3412.19	6	chr20	44429378	.	T	C	3412.19	.	AC=25;AF=0.658;AN=38;BaseQRankSum=0.508;DP=206;ExcessHet=0.3394;FS=7.051;InbreedingCoeff=0.0621;MLEAC=26;MLEAF=0.684;MQ=60.00;MQRankSum=0.00;QD=18.25;ReadPosRankSum=0.00;SOR=1.306	GT:AD:DP:GQ:PL	1/1:0,4:4:12:171,12,0	3	9	7	2
chr20	62836323	62836323	C	T	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon28:c.C1538T:p.P513L,	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	492649	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.992	D	0.641	P	0.000	D	1.000	D	2.445	M	-4.09	D	0.936	D	0.887	D	0.463	2.574	14.57	4.63	2.117	1.226	13.354	0.500	0.492009891896	.	0.000599042	7.55e-05	0.0001	8.703e-05	0	0	7.627e-05	0	0.0001	0.0001035	16	154602	rs202094480	6.364e-05	6.498e-05	6.128e-05	6.602e-05	0.0010	5.296e-05	4.912e-05	0.0005	0.0003	0.0003	0.0001	3.827e-05	0.0002	0	0.0010	3.507e-05	0.0003	8.115e-05	6.562e-05	6.561e-05	7.706e-05	5.367e-05	0.0006	3.512e-05	2.613e-05	0.0002	8.375e-05	4.808e-05	0	0	0	0.0006	0	0	7.349e-05	0	0	0.15	0.24661	T	0.144	0.33109	T	0.992	0.64738	D	0.641	0.52117	P	0.000016	0.62929	D	0.115400	0.999981	0.54805	D	2.82	0.82106	M	-4.09	0.96627	D	-2.06	0.47175	N	0.531	0.55972	0.936	0.96183	D	0.887	0.96251	D	10	0.42572823	0.57160	T	0.49201	0.95014	D	0.500	0.78350	.	.	0.903751906446	0.90279	0.4917483548364823	0.49095	0.417224693402	0.42347	0.586887657642	0.51056	T	0.375991	0.73948	T	0.0430683	0.57447	T	0.00623502	0.70739	D	0.198393984386786	0.20327	T	0.89721	0.64041	D	0.0885993	0.20673	0.08384448	0.19245	0.0885993	0.20673	0.08384448	0.19245	-8.827	0.66576	D	.	.	0.072	0.04396	B	.;.	.;.	4.712404	0.75714	26.4	0.99801397416488058	0.88639	0.30625	0.24130	N	AEFDGBIJ	0.319891	0.42316	N	0.0259768132827832	0.43038	2.60472	-0.149292357982889	0.33437	1.912565	0.999999999648316	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.63	4.63	0.57175	1.379000	0.33946	7.476000	0.59206	0.599000	0.40250	0.165000	0.23867	1.000000	0.68203	0.036000	0.13842	0.1583:0.8417:0.0:0.0	13.354	0.60063	828	0.39726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1119.98	34	chr20	62836323	.	C	T	1119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=871;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.142;SOR=0.954	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1134,0,960	20	0	1	0
chr21	44288401	44288401	G	A	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon5:c.G595A:p.V199I,	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	133783	not_specified|Polyglandular_autoimmune_syndrome,_type_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.995	D	0.044	N	0.999	N	1.7	L	0.03	T	-0.885	T	0.211	T	0.072	2.150	13.15	0.359	0.291	0.549	3.330	0.084	.	0.0032	0.00399361	0.0012	0.0097	0.0021	0.0015	0	0.0002	0.0011	0	0.0011966	185	154602	rs74162061	0.0006	0.0006	0.0007	0.0006	0.0121	0.0006	0.0006	0.0111	0.0107	0.0121	0.0023	0	0.0007	0	0.0016	0.0002	0.0017	9.275e-05	0.0038	0.0038	0.0038	0.0038	0.0119	0.0035	0.0034	0.0110	0.0107	0.0119	0	0.0033	0	0.0008	0	0.0204	0.0002	0.0019	0.0004	0.083	0.33091	T	0.046	0.49120	D	0.999	0.77913	D	0.995	0.83170	D	0.044268	0.23655	N	0.203061	0.999997	0.08975	N	1.95	0.52479	M	0.03	0.62183	T	-0.25	0.11008	N	0.097	0.07811	-0.8854	0.49324	T	0.211	0.57081	T	10	0.008170009	0.00185	T	.	.	.	0.084	0.24469	.	.	0.500613528874	0.49698	0.09178501883863743	0.09111	0.163838910764	0.18484	0.456157565117	0.32785	T	0.246735	0.61625	T	-0.550025	0.00292	T	-0.552462	0.17091	T	0.00758200874009789	0.00088	T	0.625537	0.24174	T	0.060863804	0.12538	0.06903008	0.14491	0.060863804	0.12538	0.06903008	0.14491	-6.158	0.47582	T	0.1180283645890475	0.10847	0.075	0.05491	B	.	.	1.449698	0.18706	13.88	0.99664210724125457	0.78138	0.05199	0.11023	N	AEFDBI	0.073111	0.14614	N	-0.329207714825212	0.28043	1.543549	-0.572147104431313	0.20220	1.088423	0.987343792298573	0.31243	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.61	0.359	0.15324	0.111000	0.15292	-0.159000	0.11341	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.2627:0.2215:0.5158:0.0	3.330	0.06666	929	0.16858	SAND domain|SAND 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	0.02381	1675.98	37	chr21	44288401	.	G	A	1675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=959;ExcessHet=0.0000;FS=2.096;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.830;SOR=0.523	GT:AD:DP:GQ:PL	0/1:73,70:143:99:1690,0,1736	20	0	1	0
chr22	38120887	38120887	G	A	exonic	PLA2G6	.	synonymous SNV	PLA2G6:NM_001004426:exon11:c.C1452T:p.R484R	Infantile neuroaxonal dystrophy 1, Autosomal recessive;Neurodegeneration with brain iron accumulation 2B, Autosomal recessive;Parkinson disease 14, autosomal recessive, Autosomal recessive	YES	1	1519	2	0	0	2	0.000657895	.	.	891303	not_provided|PLA2G6-associated_neurodegeneration|Infantile_neuroaxonal_dystrophy	MedGen:C3661900|MONDO:MONDO:0017998,MedGen:CN204472,Orphanet:329303|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600,Orphanet:35069	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0001	0	8.652e-05	0	0	0.0002	0.0011	0	0.00011	17	154602	rs373930150	0.0001	0.0001	0.0001	0.0001	0.0014	9.404e-05	8.887e-05	0.0007	0.0005	0	0.0001	0	0	0	0.0014	0.0001	6.624e-05	3.478e-05	6.569e-05	6.566e-05	6.422e-05	6.724e-05	9.646e-05	3.516e-05	2.616e-05	3.761e-05	2.575e-05	9.646e-05	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1703.98	38	chr22	38120887	.	G	A	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.810e-01;DP=880;ExcessHet=0.0000;FS=2.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-3.074e+00;SOR=0.871	GT:AD:DP:GQ:PL	0/1:82,70:152:99:1718,0,2086	20	0	1	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M,	.	.	418	622	397	85	0	567	0.313087	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.03	D	0.994	D	0.944	D	0.016	N	0.000	P	3.265	M	-1.41	T	-1.028	T	0.000	T	0.209	1.841	12.12	-1.97	-0.125	-0.914	6.383	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Uncertain significance	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.3571	34134.34	43	chr22	43928847	.	C	G	34134.34	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.62;DP=2033;ExcessHet=3.1640;FS=0.521;InbreedingCoeff=-0.1407;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=20.50;ReadPosRankSum=0.110;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,50:112:99:0|1:43928847_C_G:1872,0,2404:43928847	8	2	11	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	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.000	N	1.000	P	0	N	1.36	T	-0.993	T	0.000	T	0.017	-1.344	0.030	-5.47	-1.617	-2.202	1.474	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.6905	60939.29	38	chr22	43946236	.	A	G	60939.29	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.056e+00;DP=2777;ExcessHet=0.0158;FS=0.717;InbreedingCoeff=0.4430;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=24.07;ReadPosRankSum=0.942;SOR=0.789	GT:AD:DP:GQ:PL	0/1:70,102:172:99:2459,0,1709	4	12	5	0
chr22	50523649	50523649	G	T	exonic	SCO2	.	synonymous SNV	SCO2:NM_001169109:exon2:c.C763A:p.R255R	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Autosomal recessive;Myopia 6, Autosomal dominant	YES	1	1501	20	0	0	20	0.00661813	.	.	142790	Fatal_Infantile_Cardioencephalomyopathy|not_specified|not_provided|Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1|Mitochondrial_complex_IV_deficiency,_nuclear_type_1	MedGen:CN239235|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561|MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00179712	0.0058	0.0011	0.0033	0	0.0023	0.0091	0.0055	0.0020	0.0059378	918	154602	rs112793292	0.0090	0.0090	0.0092	0.0088	0.0108	0.0089	0.0088	0.0107	0.0106	0.0015	0.0025	0.0034	0	0.0038	0.0018	0.0108	0.0080	0.0020	0.0058	0.0058	0.0065	0.0050	0.0105	0.0054	0.0053	0.0098	0.0096	0.0015	0.0011	0.0033	0.0029	0	0.0024	0.0034	0.0105	0.0038	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	1509.98	33	chr22	50523649	.	G	T	1509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=863;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=-1.926e+00;SOR=0.791	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1524,0,1661	20	0	1	0
chrX	38410151	38410151	A	G	intronic	OTC	.	.	.	Ornithine transcarbamylase deficiency, X-linked recessive	.	.	.	.	.	.	.	.	.	.	573855	Ornithine_carbamoyltransferase_deficiency	MONDO:MONDO:0010703,MedGen:C0268542,OMIM:311250,Orphanet:664	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	45.92	1	chrX	38410151	.	A	G	45.92	.	AC=2;AF=0.200;AN=10;DP=40;ExcessHet=0.0000;FS=0.000;MLEAC=4;MLEAF=0.400;MQ=60.00;QD=22.96;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	16
chrX	153580229	153580229	G	T	exonic	ATP2B3	.	nonsynonymous SNV	ATP2B3:NM_001001344:exon20:c.G3594T:p.K1198N,	.	YES	.	.	.	.	.	.	.	.	.	244001	Abnormal_cerebral_cortex_morphology|Hypotonia|Global_developmental_delay|Oral-pharyngeal_dysphagia|Carious_teeth|Microcephaly|Intellectual_disability|Muscular_atrophy|X-linked_progressive_cerebellar_ataxia	Human_Phenotype_Ontology:HP:0002538,MedGen:C4025701|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0200136,MedGen:C0267071|Human_Phenotype_Ontology:HP:0000670,Human_Phenotype_Ontology:HP:0006295,Human_Phenotype_Ontology:HP:0006306,MONDO:MONDO:0005276,MedGen:C0011334|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0001299,Human_Phenotype_Ontology:HP:0003202,Human_Phenotype_Ontology:HP:0003545,Human_Phenotype_Ontology:HP:0003671,Human_Phenotype_Ontology:HP:0003702,Human_Phenotype_Ontology:HP:0003746,Human_Phenotype_Ontology:HP:0006995,Human_Phenotype_Ontology:HP:0007171,Human_Phenotype_Ontology:HP:0007356,Human_Phenotype_Ontology:HP:0009010,Human_Phenotype_Ontology:HP:0009048,Human_Phenotype_Ontology:HP:0100868,MONDO:MONDO:0004323,MedGen:C0541794|MONDO:MONDO:0010547,MedGen:C0796205,OMIM:302500,Orphanet:1175	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.144	N	1.000	D	1.1	L	-3.45	D	0.255	D	0.891	D	0.3	4.074	20.9	5.34	2.212	1.348	16.741	0.467	0.418433081814	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782596945	9.229e-07	9.105e-07	1.372e-06	0	3.855e-05	0	0	.	.	3.855e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.033	0.53072	D	0.999	0.77913	D	0.998	0.88582	D	0.144195	0.02910	N	1.669800	0.98271	0.81001	D	-0.695	0.01866	N	-3.45	0.94469	D	-1.09	0.28290	N	0.644	0.65587	0.255	0.86828	D	0.891	0.96388	D	10	0.3843456	0.54428	T	0.418433	0.93743	D	0.467	0.76222	0.197	0.10975	0.939107827343	0.93848	0.6164852695513366	0.61580	1.67296278305	0.89877	0.495664149523	0.38223	T	0.083323	0.37028	T	0.0469897	0.57953	T	-0.170279	0.57417	T	0.845075488090515	0.49746	D	0.777722	0.41106	T	0.27985528	0.51034	0.27440202	0.53367	0.26845282	0.49917	0.24045628	0.49418	-2.548	0.06118	T	.	.	0.206	0.44720	B	.;.	.;.	3.870699	0.56190	23.7	0.9987961283767508	0.95572	0.92775	0.56515	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999995552017283	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.34	5.34	0.75982	1.043000	0.29926	.	.	-0.110000	0.15115	0.990000	0.36992	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.741	0.85319	9	0.99126	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1690.98	42	chrX	153580229	.	G	T	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=956;ExcessHet=0.0000;FS=2.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=0.799;SOR=0.941	GT:AD:DP:GQ:PL	0/1:76,67:143:99:1705,0,1893	20	0	1	0
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	YES	1	1326	123	72	0	267	0.0914697	.	.	25407	G6PD-related_disorder|G6PD_deficient_hemolytic_anemia|Inborn_genetic_diseases|Hemolytic_anemia,_G6PD_deficient_(favism)|Malaria,_susceptibility_to|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|See_cases|G6PD_CAGLIARI|G6PD_deficiency|G6PD_MEDITERRANEAN|G6PD_SASSARI|not_provided	.|.|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|.|.|MONDO:MONDO:0005775,MedGen:C2939465|.|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.04	D	0.022	B	0.039	B	0.000	D	1.000	D	3.015	M	-4.87	D	0.957	D	0.933	D	0.809	3.643	18.52	5.65	2.361	6.312	15.929	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	1	0	0	0	0	0	0	0	0	0	0	0.02381	2242.98	35	chrX	154534419	.	G	A	2242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.624;SOR=0.746	GT:AD:DP:GQ:PL	0/1:70,86:156:99:2257,0,1672	20	0	1	0