Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES628	WT	HH	HZ	NC
chr1	7745952	7745952	C	T	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349613:exon8:c.C1607T:p.A536V,CAMTA1:NM_001349615:exon8:c.C1550T:p.A517V,CAMTA1:NM_001349616:exon8:c.C1550T:p.A517V,CAMTA1:NM_001349618:exon8:c.C1550T:p.A517V,CAMTA1:NM_001349619:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349622:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349624:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349626:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349614:exon10:c.C1550T:p.A517V,CAMTA1:NM_001349617:exon10:c.C1550T:p.A517V,CAMTA1:NM_001349620:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349621:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349623:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349625:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349608:exon17:c.C4388T:p.A1463V,CAMTA1:NM_001349612:exon17:c.C4049T:p.A1350V,CAMTA1:NM_001349609:exon18:c.C4139T:p.A1380V,CAMTA1:NM_001349610:exon18:c.C4139T:p.A1380V,CAMTA1:NM_015215:exon18:c.C4478T:p.A1493V	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	1288262	Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities|not_provided	MONDO:MONDO:0013886,MedGen:C3553661,OMIM:614756,Orphanet:314647|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.099	0.0427979952457	0.0002	.	5.769e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs147636995	6.977e-05	6.977e-05	6.67e-05	7.288e-05	0.0016	5.846e-05	5.457e-05	0.0008	0.0006	5.974e-05	0.0001	7.652e-05	0	0	0.0016	6.655e-05	6.623e-05	5.797e-05	5.909e-05	5.906e-05	2.57e-05	9.398e-05	6.536e-05	3.075e-05	2.209e-05	1.972e-05	1.124e-05	2.407e-05	0	6.536e-05	0.0006	0	0	0	5.88e-05	0.0005	0	0.007	0.59928	D	0.278	0.21812	T	0.894	0.49185	P	0.154	0.34351	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	1.95	0.53302	T	-2.24	0.58407	N	0.707	0.71055	-0.4208	0.71366	T	0.391	0.74539	T	10	0.32962638	0.50213	T	0.042798	0.60651	D	0.222	0.51872	.	.	0.663351989912	0.66052	0.4720427481553493	0.47123	0.851316480579	0.68548	0.717219352722	0.69641	T	0.150643	0.49021	T	-0.0940111	0.37413	T	-0.117771	0.61985	T	0.491120308637619	0.32305	T	0.852415	0.56300	D	0.28352967	0.51384	0.24048017	0.49423	0.28352967	0.51384	0.24048017	0.49422	-7.513	0.57702	D	0.5666541319699996	0.63407	0.161	0.35477	B	.;.	.;.	4.011597	0.59186	24.1	0.99923879439659247	0.98917	0.97660	0.76227	D	AEFDGBIJ	0.687609	0.64889	D	0.44385980688512	0.63854	4.627544	0.500903196125067	0.68052	5.167045	1.0	0.98316	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	6.115000	0.71256	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.445000	0.27784	0.0:1.0:0.0:0.0	20.173	0.98162	772	0.48957	.;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1270.83	33	chr1	7745952	.	C	T	1270.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.722;SOR=0.622	GT:AD:DP:GQ:PL	0/1:32,48:80:99:1281,0,671	5	0	1	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	.	1310279	Neutrophil_inclusion_bodies|CDCA8-related_condition|not_specified	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	9229.92	37	chr1	37708311	.	TTTC	T	9229.92	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.455;DP=557;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=0.673;SOR=0.676	GT:AD:DP:GQ:PL	0/1:48,73:121:99:2850,0,1796	2	0	4	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	29426.6	134	chr1	55057360	.	A	G	29426.6	.	AC=12;AF=1;AN=12;DP=936;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=32.09;SOR=0.758	GT:AD:DP:GQ:PL	1/1:0,117:117:99:3781,350,0	0	6	0	0
chr1	92478758	92478767	AGAGAGAGAG	-	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	283195	Severe_congenital_neutropenia|not_specified|not_provided|Neutropenia,_severe_congenital,_2,_autosomal_dominant	MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs376338971	0.0174	0.0171	0.0180	0.0168	0.0196	0.0172	0.0171	0.0193	0.0192	0.0083	0.0133	0.0183	0.0027	0.0165	0.0187	0.0196	0.0165	0.0017	0.0152	0.0141	0.0153	0.0150	0.0194	0.0146	0.0144	0.0185	0.0181	0.0092	0.0142	0.0163	0.0238	0.0042	0.0150	0.0147	0.0194	0.0176	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2380.76	13	chr1	92478757	.	CAGAGAGAGAG	C	2380.76	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.805;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=34.01;ReadPosRankSum=0;SOR=1.434	GT:AD:DP:GQ:PL	1/0:1,14:24:99:824,321,548	4	0	1	1
chr1	92478757	92478757	-	AGAG	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	281299	Severe_congenital_neutropenia|not_specified|not_provided|Neutropenia,_severe_congenital,_2,_autosomal_dominant	MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0916	0.0751	0.0911	0.1635	0.0498	0.0708	0.1063	0.1619	0.0015368	40	26028	rs371078453	0.1110	0.1279	0.1091	0.1129	0.2324	0.1105	0.1103	0.2281	0.2264	0.1254	0.1540	0.0871	0.2324	0.0832	0.1143	0.1014	0.1134	0.1787	0.0539	0.0560	0.0542	0.0536	0.1130	0.0529	0.0525	0.1101	0.1089	0.1130	0.0071	0.0369	0.0143	0.0747	0.0196	0.0331	0.0316	0.0415	0.0444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2380.76	13	chr1	92478757	.	C	CAGAG	2380.76	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.805;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=34.01;ReadPosRankSum=0;SOR=1.434	GT:AD:DP:GQ:PL	0/1:1,9:24:99:824,475,485	4	0	1	1
chr1	94080596	94080596	G	A	exonic	ABCA4	.	synonymous SNV	ABCA4:NM_000350:exon8:c.C981T:p.P327P	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1518	3	1	0	5	0.0016442	.	.	YES	105405	not_specified|not_provided|ABCA4-related_disorder|Retinal_dystrophy	MedGen:CN169374|MedGen:C3661900|MedGen:CN239167|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	.	0.0004	9.619e-05	0	0	0	0.0006	0	0.0007	0.0003946	61	154602	rs61753057	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0007	0.0007	5.974e-05	8.944e-05	0	0.0002	9.36e-05	0.0010	0.0008	0.0004	0.0007	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0003	0	0.0002	0	0	0	0	0.0009	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	759.83	34	chr1	94080596	.	G	A	759.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.43;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.7;SOR=0.641	GT:AD:DP:GQ:PL	0/1:35,26:61:99:770,0,859	5	0	1	0
chr1	115696646	115696646	G	A	UTR3	VANGL1	NM_001172411:c.*5267G>A;NM_138959:c.*5267G>A;NM_001172412:c.*5267G>A	.	.	Caudal regression syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	276410	Sacral_defect_with_anterior_meningocele|Neural_tube_defect|Caudal_regression_sequence	MedGen:C1838568,OMIM:600145|Human_Phenotype_Ontology:HP:0045005,MONDO:MONDO:0018075,MedGen:C0027794,Orphanet:3388,Orphanet:823|MONDO:MONDO:0017607,MedGen:C0300948,Orphanet:3027	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00379393	.	.	.	.	.	.	.	.	0.0013063	34	26028	rs75064936	0	4.771e-06	.	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	0.0051	0.0051	0.0052	0.0049	0.0181	0.0048	0.0046	0.0170	0.0166	0.0181	0	0.0008	0	0	0	0	2.94e-05	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	37.68	.	chr1	115696646	.	G	A	37.68	.	AC=2;AF=0.25;AN=8;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=18.84;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	2
chr1	115768745	115768745	-	CACACA	upstream	CASQ2	dist=31	.	.	Ventricular tachycardia, catecholaminergic polymorphic, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276081	not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs146969305	0.0741	0.0700	0.0765	0.0720	0.1484	0.0734	0.0731	0.1444	0.1427	0.0425	0.0866	0.0545	0.1484	0.0610	0.0882	0.0715	0.0756	0.0619	0.0591	0.0596	0.0588	0.0594	0.1445	0.0581	0.0576	0.1357	0.1322	0.0282	0.0198	0.0766	0.0478	0.1445	0.0551	0.0548	0.0687	0.0687	0.0636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	154.95	3	chr1	115768745	.	G	GCACACA	154.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=37;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=30.99;ReadPosRankSum=0.524;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,4:5:26:165,0,26	5	0	1	0
chr1	156881590	156881590	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2321A:p.R774Q,NTRK1:NM_001007792:exon17:c.G2231A:p.R744Q,NTRK1:NM_002529:exon17:c.G2339A:p.R780Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	0	1487	35	0	0	35	0.0116318	.	.	YES	237215	not_provided|Hereditary_insensitivity_to_pain_with_anhidrosis|NTRK1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.339	.	0.0036	0.00379393	0.0064	0.0015	0.0035	0	0.0019	0.0072	0.0050	0.0126	0.0048512	750	154602	rs35669708	0.0058	0.0058	0.0055	0.0061	0.0117	0.0057	0.0057	0.0111	0.0109	0.0007	0.0027	0.0006	7.571e-05	0.0017	0.0070	0.0062	0.0049	0.0117	0.0043	0.0043	0.0043	0.0044	0.0114	0.0041	0.0039	0.0090	0.0081	0.0010	0	0.0075	0.0009	0	0.0013	0.0136	0.0061	0.0057	0.0114	0.231	0.18308	T	0.445	0.13140	T	0.005	0.47975	B	0.009	0.38566	B	0.000949	0.40932	D	0.109267	1	0.08975	N	0.595	0.15482	N	-1.6	0.82165	D	-1.25	0.31576	N	0.282	0.35408	-0.9340	0.43545	T	0.138	0.45470	T	10	0.012337536	0.00265	T	.	.	.	0.339	0.66106	.	.	0.793816764983	0.79190	0.6476328844921709	0.64698	0.295731434207	0.31975	0.395707249641	0.24471	T	0.56893	0.85694	D	-0.335654	0.05694	T	-0.246959	0.50116	T	0.00731582278162374	0.00084	T	0.819918	0.48580	T	0.24014701	0.46915	0.10897891	0.26259	0.26156637	0.49215	0.09393142	0.22210	-6.265	0.48904	T	0.13459309679898868	0.14554	0.065	0.02313	B	.;.;.;.	.;.;.;.	2.380185	0.30549	18.47	0.94565689527094787	0.25095	0.20513	0.21069	N	AEFDBI	0.241183	0.36284	N	-0.746801634666891	0.14720	0.7356819	-0.73046276975402	0.16204	0.8560722	0.98761279161428	0.31305	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.01	4.1	0.47196	0.472000	0.21827	1.856000	0.29290	0.676000	0.76740	0.000000	0.06391	0.014000	0.20376	0.137000	0.19835	0.1746:0.0:0.8254:0.0	8.581	0.32790	527	0.73864	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005561	0.000000	0.004076	0.002941	0.000000	0.008621	0.012346	0.007576	0.08333	1091.83	33	chr1	156881590	.	G	A	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.52;DP=245;ExcessHet=0;FS=1.954;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.934;SOR=0.87	GT:AD:DP:GQ:PL	0/1:33,38:71:99:1102,0,717	5	0	1	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	not_provided|Spherocytosis,_Recessive|Pyropoikilocytosis,_hereditary|Elliptocytosis	MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3808.07	47	chr1	158668075	.	GAAA	G	3808.07	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.229;DP=303;ExcessHet=6.1542;FS=4.067;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=-0.425;SOR=0.994	GT:AD:DP:GQ:PL	1/1:1,41:48:99:1839,125,0	3	1	2	0
chr1	161214269	161214269	-	TG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTG;NM_001377300:c.*328_*329insTG;NM_001377301:c.*328_*329insTG;NM_004550:c.*76_*77insTG;NM_001166159:c.*328_*329insTG;NM_001377299:c.*76_*77insTG;NM_001377302:c.*119_*120insTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277997	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs10629771	0.1891	0.2001	0.1864	0.1915	0.3431	0.1882	0.1879	0.3377	0.3355	0.2667	0.2662	0.2049	0.3431	0.2001	0.2120	0.1597	0.2040	0.2476	0.2808	0.2843	0.2797	0.2819	0.4674	0.2785	0.2776	0.4514	0.4450	0.3792	0.1481	0.2737	0.2503	0.4674	0.2163	0.2877	0.2202	0.2911	0.3197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1745.11	22	chr1	161214269	.	C	CTG	1745.11	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.692;DP=193;ExcessHet=6.1542;FS=4.229;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=0.423;SOR=0.2	GT:AD:DP:GQ:PL	0/1:10,3:13:56:56,0,267	4	0	2	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3299.33	42	chr1	168293284	.	A	AGT	3299.33	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.256;DP=397;ExcessHet=0.1336;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=22.75;ReadPosRankSum=0;SOR=0.879	GT:AD:DP:GQ:PL	0/1:5,28:33:38:650,0,38	1	0	5	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	467	200	364	491	0	1346	0.770905	1.0000	0.918	YES	249563	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified	MedGen:C3661900|MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3860.53	59	chr1	179889309	.	G	A	3860.53	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.563;DP=312;ExcessHet=2.3007;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.647;SOR=0.686	GT:AD:DP:GQ:PL	0/1:28,16:44:99:350,0,701	1	1	4	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.5	9351.53	95	chr1	196690107	.	C	T	9351.53	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.555;DP=635;ExcessHet=2.3007;FS=1.896;MLEAC=6;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=15.8;ReadPosRankSum=0.294;SOR=0.862	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1586,0,1796	1	1	4	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	18981.6	104	chr1	226735804	.	G	T	18981.6	.	AC=12;AF=1;AN=12;DP=581;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=33.48;SOR=0.84	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2548,222,0	0	6	0	0
chr1	241500602	241500602	-	GAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281822	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197364	5137	26028	rs144131869	0.2390	0.2461	0.2382	0.2398	0.2745	0.2383	0.2380	0.2714	0.2702	0.1455	0.2328	0.2278	0.1589	0.2024	0.2171	0.2445	0.2281	0.2745	0.2551	0.2521	0.2543	0.2559	0.3681	0.2528	0.2519	0.3526	0.3463	0.1524	0.2864	0.3169	0.2763	0.1697	0.2757	0.2852	0.2931	0.2723	0.3681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2014.52	45	chr1	241500602	.	T	TGAGA	2014.52	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.15;DP=193;ExcessHet=0.7136;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=33.58;ReadPosRankSum=0.489;SOR=1.015	GT:AD:DP:GQ:PL	1/0:0,5:10:99:425,134,103	2	0	3	1
chr1	241500602	241500602	-	GAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281943	Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|not_specified	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0104887	273	26028	rs144131869	0.1525	0.1590	0.1541	0.1509	0.1598	0.1519	0.1517	0.1592	0.1589	0.1416	0.1037	0.1260	0.1186	0.1150	0.1201	0.1598	0.1481	0.1335	0.2022	0.2027	0.2033	0.2011	0.2258	0.2002	0.1994	0.2227	0.2215	0.1753	0.1505	0.1884	0.1918	0.1716	0.1744	0.1889	0.2258	0.1997	0.2131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2014.52	45	chr1	241500602	.	T	TGAGAGA	2014.52	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.15;DP=193;ExcessHet=0.7136;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=33.58;ReadPosRankSum=0.489;SOR=1.015	GT:AD:DP:GQ:PL	0/1:0,5:10:99:425,139,124	3	0	2	1
chr2	27309900	27309900	A	C	UTR3	MPV17	NM_002437:c.*12T>G	.	.	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Autosomal recessive	1	1511	10	0	0	10	0.00329815	.	.	.	367172	Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type)|not_provided	MONDO:MONDO:0009747,MedGen:C1850406,OMIM:256810,Orphanet:255229|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.125	0.0704031478649	0.0011	0.000199681	0.0009	0	0.0006	0	0.0005	0.0013	0.0011	0.0003	0.0007697	119	154602	rs201202659	0.0009	0.0009	0.0010	0.0009	0.0017	0.0009	0.0009	0.0010	0.0009	0	0.0009	0.0026	0	0.0005	0.0017	0.0010	0.0009	0.0005	0.0008	0.0008	0.0007	0.0008	0.0014	0.0007	0.0006	0.0009	0.0008	7.215e-05	0	0.0014	0.0029	0.0002	0.0008	0.0034	0.0011	0.0005	0.0002	0.0	0.91255	D	0.874	0.03277	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-2.12	0.86283	D	-0.31	0.12099	N	0.102	0.08506	-0.6476	0.62818	T	0.419	0.76503	T	8	0.011353552	0.00249	T	0.070403	0.70993	D	0.125	0.34456	.	.	0.403896168776	0.40002	.	.	.	.	.	.	.	.	.	.	-0.462467	0.00949	T	-0.477611	0.24701	T	0.0264898622949554	0.01473	T	0.188781	0.01990	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.118033	0.05162	1.681	0.43965428975101395	0.03347	0.00948	0.03653	N	AEFDGBI	0.056464	0.10439	N	-1.19267192214209	0.05110	0.2321897	-1.28990604661485	0.04566	0.215663	0.0621708686496367	0.15255	0.719381	0.83141	0	0.709663	0.81188	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.84	-5.12	0.02674	-0.259000	0.08742	-0.017000	0.12978	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.201:0.3246:0.4744:0.0	7.963	0.29245	180	0.92993	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	473.83	38	chr2	27309900	.	A	C	473.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.64;DP=221;ExcessHet=0;FS=4.442;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.52;SOR=1.247	GT:AD:DP:GQ:PL	0/1:21,19:40:99:484,0,584	5	0	1	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	not_specified|not_provided|Breast_and/or_ovarian_cancer|Lynch_syndrome_5	MedGen:CN169374|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1619.79	22	chr2	47806751	.	CTT	C	1619.79	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.145;DP=257;ExcessHet=3.1439;FS=4.429;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=1.2;SOR=1.022	GT:AD:DP:GQ:PL	0/1:16,4:23:34:77,0,437	3	0	3	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1506.51	29	chr2	69326243	.	GA	G	1506.51	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.321;DP=202;ExcessHet=3.1439;FS=2.077;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.116;SOR=0.541	GT:AD:DP:GQ:PL	0/1:3,23:26:1:516,0,1	2	0	4	0
chr2	70959974	70959974	G	A	exonic	ATP6V1B1	.	nonsynonymous SNV	ATP6V1B1:NM_001692:exon6:c.G481A:p.E161K	Renal tubular acidosis with deafness, Autosomal recessive	0	1256	247	19	0	285	0.101895	.	.	YES	53396	not_specified|not_provided|Renal_tubular_acidosis_with_progressive_nerve_deafness	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009968,MedGen:C0403554,OMIM:267300,Orphanet:93611	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	.	0.0232	0.0289537	0.0306	0.0250	0.0125	0.0001	0.0490	0.0272	0.0454	0.0685	0.0293463	4537	154602	rs114234874	0.0249	0.0249	0.0230	0.0269	0.0712	0.0247	0.0246	0.0697	0.0691	0.0274	0.0136	0.0589	0.0002	0.0528	0.0690	0.0201	0.0284	0.0712	0.0260	0.0261	0.0245	0.0275	0.0644	0.0253	0.0251	0.0585	0.0562	0.0261	0.0011	0.0184	0.0553	0.0004	0.0491	0.0612	0.0217	0.0331	0.0644	0.136	0.26519	T	0.196	0.28764	T	0.001	0.16867	B	0.005	0.11217	B	0.000038	0.55875	D	0.000000	1	0.81001	D	0.475	0.13142	N	-1.58	0.81987	D	-1.85	0.43334	N	0.459	0.49602	-0.6437	0.62987	T	0.142	0.46312	T	10	0.0060780346	0.00137	T	.	.	.	0.245	0.55201	.	.	.	.	0.7894849641373344	0.78900	0.348821776332	0.36742	0.779242157936	0.78813	T	0.303278	0.67564	T	-0.316591	0.07181	T	-0.176486	0.56848	T	0.0239386013980681	0.01138	T	0.987751	0.95824	D	0.27729845	0.50788	0.21772106	0.46448	0.2430736	0.47241	0.21201313	0.45652	-13.016	0.89430	D	0.09918904614847013	0.07178	0.214	0.44306	B	.;.;.	.;.;.	5.669601	0.92930	33	0.99854275506567114	0.93368	0.98739	0.86233	D	AEFDBI	0.923668	0.90050	D	0.0732190723337372	0.45217	2.781897	0.2264564783132	0.51319	3.315583	0.999999999976642	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.47	4.47	0.53770	9.994000	0.99266	8.662000	0.77976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	14.669	0.68536	826	0.39940	.;.;.	FAM136A	Artery_Coronary	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.068479	0.050505	0.062500	0.078947	0.050000	0.086207	0.054878	0.102273	0.08333	1272.83	34	chr2	70959974	.	G	A	1272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.508;DP=278;ExcessHet=0;FS=1.547;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.034;SOR=0.627	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1283,0,1285	5	0	1	0
chr2	71644058	71644058	C	T	exonic	DYSF	.	synonymous SNV	DYSF:NM_001130976:exon40:c.C4462T:p.L1488L,DYSF:NM_001130986:exon40:c.C4465T:p.L1489L,DYSF:NM_001130455:exon41:c.C4507T:p.L1503L,DYSF:NM_001130977:exon41:c.C4525T:p.L1509L,DYSF:NM_001130980:exon41:c.C4555T:p.L1519L,DYSF:NM_001130984:exon41:c.C4528T:p.L1510L,DYSF:NM_001130985:exon41:c.C4558T:p.L1520L,DYSF:NM_003494:exon41:c.C4504T:p.L1502L,DYSF:NM_001130978:exon42:c.C4567T:p.L1523L,DYSF:NM_001130979:exon42:c.C4597T:p.L1533L,DYSF:NM_001130981:exon42:c.C4618T:p.L1540L,DYSF:NM_001130982:exon42:c.C4600T:p.L1534L,DYSF:NM_001130983:exon42:c.C4570T:p.L1524L,DYSF:NM_001130987:exon42:c.C4621T:p.L1541L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	1	1393	121	7	0	135	0.046217	.	.	.	100225	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Qualitative_or_quantitative_defects_of_dysferlin|not_specified|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_muscular_dystrophy_1|Miyoshi_myopathy	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0076	0.00858626	0.0107	0.0101	0.0064	0.0001	0.0046	0.0109	0.0061	0.0209	0.0081694	1263	154602	rs7573406	0.0082	0.0083	0.0078	0.0086	0.0328	0.0081	0.0081	0.0290	0.0275	0.0077	0.0069	0.0096	0	0.0035	0.0328	0.0079	0.0104	0.0170	0.0081	0.0082	0.0084	0.0078	0.0145	0.0078	0.0076	0.0118	0.0108	0.0080	0	0.0088	0.0072	0.0002	0.0023	0.0340	0.0091	0.0123	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.025706	0.020202	0.027174	0.020468	0.000000	0.017241	0.036810	0.015152	0.08333	543.83	40	chr2	71644058	.	C	T	543.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=228;ExcessHet=0;FS=2.485;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.118;SOR=0.561	GT:AD:DP:GQ:PL	0/1:26,21:47:99:554,0,627	5	0	1	0
chr2	73958938	73958938	-	TTAAG	ncRNA_intronic	DGUOK-AS1	.	.	.	.	123	1371	26	2	0	30	0.0108225	.	.	.	287255	not_provided|Mitochondrial_DNA_depletion_syndrome	MedGen:C3661900|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs554820333	0.0136	0.0124	0.0134	0.0137	0.0194	0.0133	0.0132	0.0155	0.0141	0.0028	0.0047	0.0266	0.0002	0.0216	0.0194	0.0146	0.0141	0.0127	0.0100	0.0100	0.0103	0.0098	0.0137	0.0096	0.0094	0.0130	0.0127	0.0028	0	0.0057	0.0274	0.0002	0.0205	0.0442	0.0137	0.0104	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	342.79	17	chr2	73958938	.	C	CTTAAG	342.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.931;DP=97;ExcessHet=0;FS=3.274;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=0.281;SOR=1.981	GT:AD:DP:GQ:PL	0/1:8,9:17:99:353,0,309	5	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|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.875	581.47	7	chr2	113062899	.	T	C	581.47	.	AC=7;AF=0.875;AN=8;BaseQRankSum=1.07;DP=26;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.875;MQ=60;MQRankSum=0;QD=30.6;ReadPosRankSum=-0.712;SOR=0.627	GT:AD:DP:GQ:PL	1/1:0,6:6:18:182,18,0	0	3	1	2
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1089	122	46	265	0	576	0.702439	.	.	.	283793	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.64154	16698	26028	rs1800930	0.6402	0.5794	0.6263	0.6522	0.7949	0.6378	0.6368	0.7880	0.7851	0.7003	0.6800	0.6607	0.7105	0.5871	0.7339	0.5921	0.6385	0.7949	0.6528	0.6527	0.6496	0.6560	0.8014	0.6494	0.6480	0.7803	0.7717	0.7079	0.7577	0.6634	0.6885	0.7078	0.6301	0.7381	0.6008	0.6883	0.8014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.7	437.38	3	chr2	113062953	.	A	G	437.38	.	AC=7;AF=0.7;AN=10;BaseQRankSum=0;DP=16;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.7;MQ=60;MQRankSum=0;QD=33.64;ReadPosRankSum=0.967;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0	1	3	1	1
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	1153	102	28	239	0	506	0.712676	.	.	.	283612	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8	339.4	2	chr2	113063003	.	C	A	339.4	.	AC=8;AF=0.8;AN=10;DP=13;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.7;MQ=60;QD=30.85;SOR=1.27	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0	1	4	0	1
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2416.43	11	chr2	169294717	.	TAAA	T	2416.43	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.21;DP=335;ExcessHet=0;FS=7.732;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=25.71;ReadPosRankSum=-0.145;SOR=0.829	GT:AD:DP:GQ:PL	1/0:0,3:13:9:304,142,115	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	544.03	27	chr2	171448665	.	C	CT	544.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0;DP=214;ExcessHet=0.4139;FS=0.978;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=6.48;ReadPosRankSum=0.1;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,11:34:99:0|1:171448665_C_CT:370,0,892:171448665	4	0	2	0
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	305	1005	21	3	188	215	0.0132548	.	.	.	189063	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.207069	0.2822	0.2104	0.4319	0.2364	0.2448	0.2580	0.2773	0.3437	0.0139778	2161	154602	rs192861143	0.2297	0.1974	0.2282	0.2312	0.3467	0.2289	0.2286	0.3409	0.3385	0.1856	0.3467	0.2716	0.2622	0.2223	0.2208	0.2204	0.2344	0.2999	0.2054	0.2045	0.2034	0.2075	0.2886	0.2034	0.2026	0.2757	0.2706	0.1695	0.1726	0.2733	0.2593	0.1987	0.2244	0.2396	0.2008	0.2248	0.2886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	830.06	27	chr2	171448667	.	C	T	830.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.82;DP=217;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.157;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,11:34:99:0|1:171448665_C_CT:370,0,892:171448665	4	0	2	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	50	730	457	105	180	847	0.313587	.	.	.	1258517	not_provided|Woodhouse-Sakati_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.227835	.	.	.	.	.	.	.	.	0.0401491	1045	26028	rs58636477	0.2283	0.2354	0.2253	0.2312	0.3807	0.2275	0.2272	0.3754	0.3733	0.2227	0.3807	0.2915	0.2775	0.2308	0.2404	0.2103	0.2387	0.3067	0.2115	0.2106	0.2096	0.2136	0.2856	0.2096	0.2088	0.2729	0.2678	0.1932	0.1718	0.2748	0.2573	0.1950	0.2276	0.2413	0.1998	0.2246	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1778.88	54	chr2	171458134	.	AT	A	1778.88	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.652;DP=299;ExcessHet=3.1439;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.496;SOR=0.676	GT:AD:DP:GQ:PL	0/1:26,17:43:99:351,0,584	4	0	2	0
chr2	178431939	178431939	T	C	ncRNA_intronic	CHROMR	.	.	.	.	60	1169	290	3	0	296	0.112377	.	.	.	283886	Dystonia_16|not_provided	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	38.98	5	chr2	178431939	.	T	C	38.98	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.728;DP=36;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.9;ReadPosRankSum=-0.842;SOR=0.446	GT:AD:DP:GQ:PL	0/1:8,2:10:49:49,0,257	5	0	1	0
chr2	178461008	178461008	C	G	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001353776:exon6:c.C799G:p.R267G,PJVK:NM_001369912:exon6:c.C793G:p.R265G,PJVK:NM_001042702:exon7:c.C793G:p.R265G,PJVK:NM_001353775:exon7:c.C802G:p.R268G,PJVK:NM_001353777:exon7:c.C316G:p.R106G,PJVK:NM_001353778:exon7:c.C316G:p.R106G	.	0	1161	119	13	229	374	0.0587758	.	.	.	53039	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_59|not_specified	MedGen:C3661900|MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	6598.69	106	chr2	178461008	.	C	G	6598.69	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.85;DP=473;ExcessHet=0.7136;FS=0.825;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-0.557;SOR=0.748	GT:AD:DP:GQ:PL	0/1:50,33:83:99:862,0,1423	2	0	4	0
chr2	178533468	178533468	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G75952C:p.E25318Q,TTN:NM_133432:exon187:c.G76327C:p.E25443Q,TTN:NM_133437:exon187:c.G76528C:p.E25510Q,TTN:NM_133378:exon307:c.G95443C:p.E31815Q,TTN:NM_001256850:exon308:c.G98224C:p.E32742Q,TTN:NM_001267550:exon358:c.G103147C:p.E34383Q	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	136136	Cardiomyopathy|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided|not_specified|Tip-toe_gait	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.312	.	0.0006	0.00219649	0.0033	0	0.0004	0	0.0251	0.0015	0.0122	0.0074	0.0028784	445	154602	rs148525155	0.0024	0.0024	0.0023	0.0024	0.0072	0.0023	0.0023	0.0068	0.0066	0.0002	0.0001	0	0	0.0266	0.0024	0.0011	0.0016	0.0072	0.0027	0.0027	0.0018	0.0037	0.0058	0.0025	0.0024	0.0041	0.0036	9.621e-05	0	0.0001	0	0	0.0268	0	0.0014	0.0014	0.0058	0.04	0.42199	D	.	.	.	0.999	0.77913	D	0.979	0.74454	D	.	.	.	.	0.999998	0.58761	D	1.685	0.43254	L	-0.31	0.68030	T	-2.02	0.48184	N	0.345	0.68429	-0.3252	0.74275	T	0.312	0.68192	T	9	0.00589779	0.00132	T	.	.	.	0.312	0.63375	.	.	0.384086055536	0.38021	.	.	0.442136844735	0.44188	0.601511120796	0.53117	T	.	.	.	-0.326447	0.06384	T	-0.23769	0.51023	T	0.0364751789503253	0.03063	T	0.945505	0.81406	D	.	.	.	.	.	.	.	.	-5.449	0.41388	T	.	.	0.757	0.75352	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.830134	0.37305	20.5	0.95094131028470685	0.26161	0.97403	0.74527	D	AEFBCI	.	.	.	0.734428824412604	0.81890	7.629033	0.770561855878795	0.87685	9.307701	1.0	0.98316	0.554377	0.28877	0	0.636889	0.57051	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.74	5.74	0.90070	7.882000	0.85748	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.503	0.95094	369	0.84396	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1715.83	93	chr2	178533468	.	C	G	1715.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.798;DP=495;ExcessHet=0;FS=0.668;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.323;SOR=0.757	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1726,0,1690	5	0	1	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	577.49	69	chr2	178535858	.	GA	G	577.49	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.057;DP=615;ExcessHet=6.1542;FS=1.248;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=-0.018;SOR=0.575	GT:AD:DP:GQ:PL	0/1:50,11:71:99:103,0,1128	1	0	5	0
chr2	178575455	178575455	A	G	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon154:c.T43482C:p.D14494D,TTN:NM_133432:exon155:c.T43857C:p.D14619D,TTN:NM_133437:exon155:c.T44058C:p.D14686D,TTN:NM_133378:exon275:c.T62973C:p.D20991D,TTN:NM_001256850:exon276:c.T65754C:p.D21918D,TTN:NM_001267550:exon326:c.T70677C:p.D23559D	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1507	14	1	0	16	0.00528053	.	.	.	56454	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|not_specified|TTN-related_disorder|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0037	0.000599042	0.0028	0.0004	0.0007	0	0.0005	0.0044	0.0011	0.0016	0.0029042	449	154602	rs72646890	0.0039	0.0039	0.0041	0.0037	0.0047	0.0038	0.0038	0.0046	0.0045	0.0006	0.0012	0	0	0.0005	0.0014	0.0047	0.0042	0.0019	0.0025	0.0025	0.0028	0.0022	0.0047	0.0023	0.0022	0.0043	0.0041	0.0006	0	0.0014	0	0	0.0004	0.0034	0.0047	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	1652.83	78	chr2	178575455	.	A	G	1652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.949;DP=479;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.287;SOR=0.693	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1663,0,1714	5	0	1	0
chr2	178713271	178713271	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon90:c.A23131G:p.I7711V,TTN:NM_001256850:exon91:c.A25912G:p.I8638V,TTN:NM_001267550:exon93:c.A26863G:p.I8955V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	.	136110	Cardiomyopathy|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|Tip-toe_gait	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.094	.	0.0005	0.00219649	0.0043	0	0.0007	0	0.0309	0.0018	0.0173	0.0089	0.0027813	430	154602	rs72648994	0.0022	0.0022	0.0021	0.0023	0.0072	0.0021	0.0021	0.0067	0.0065	0.0002	0.0001	0	0	0.0267	0.0026	0.0010	0.0014	0.0072	0.0027	0.0027	0.0018	0.0037	0.0056	0.0025	0.0024	0.0040	0.0034	9.624e-05	0	0.0002	0	0	0.0270	0	0.0014	0.0005	0.0056	0.368	0.11623	T	.	.	.	0.677	0.41330	P	0.322	0.41795	B	.	.	.	.	1	0.81001	D	.	.	.	-0.22	0.66474	T	-0.56	0.17003	N	0.331	0.38438	-0.6768	0.61520	T	0.189	0.54034	T	9	0.005237788	0.00114	T	.	.	.	0.094	0.27141	.	.	0.367042808489	0.36316	.	.	0.152078820039	0.17161	0.431877821684	0.29465	T	.	.	.	-0.401615	0.02260	T	-0.345524	0.39717	T	0.0411331792504099	0.03896	T	0.756924	0.45238	T	.	.	.	.	.	.	.	.	-7.437	0.59140	T	.	.	0.115	0.23113	B	.;.;.;.	.;.;.;.	2.860394	0.37796	20.6	0.95139486522403538	0.26260	0.92404	0.55634	D	AEFBHI	0.610370	0.59923	D	0.171333571085859	0.49825	3.178797	0.314749979411708	0.56405	3.803849	0.909681063613697	0.26318	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.687789	0.68303	1	.	.	5.96	5.96	0.96695	2.053000	0.40951	.	.	0.665000	0.62972	0.982000	0.35529	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.448	0.83801	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	2012.83	33	chr2	178713271	.	T	C	2012.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=401;ExcessHet=0;FS=3.82;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.19;SOR=0.453	GT:AD:DP:GQ:PL	0/1:108,79:187:99:2023,0,3032	5	0	1	0
chr2	209793761	209793761	C	G	exonic	UNC80	.	nonsynonymous SNV	UNC80:NM_001371986:exon7:c.C840G:p.I280M,UNC80:NM_032504:exon7:c.C840G:p.I280M,UNC80:NM_182587:exon7:c.C840G:p.I280M	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive	414	1106	2	0	0	2	0.000903342	.	.	.	1342314	Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_2|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014777,MedGen:C4225203,OMIM:616801,Orphanet:371364|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	0.0023963265619	0.0002	0.000199681	0.0005	0.0002	0.0003	0	0.0002	0.0007	0.0011	0.0005	0.0005369	83	154602	rs142126808	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0006	8.961e-05	0.0004	0	2.519e-05	0.0004	0.0002	0.0007	0.0005	0.0008	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	9.622e-05	0	0.0005	0	0	0.0003	0	0.0007	0	0.0002	0.079	0.33753	T	0.113	0.36901	T	0.011	0.15914	B	0.013	0.16460	B	0.017820	0.27632	N	0.391655	0.998234	0.22276	N	0.345	0.11182	N	1.47	0.31987	T	-0.28	0.11547	N	0.141	0.15328	-1.0908	0.05400	T	0.043	0.18701	T	10	0.019459516	0.00435	T	0.002396	0.04673	T	0.010	0.01040	.	.	0.0716867268079	0.06686	0.16231682837212077	0.16151	0.343084062525	0.36237	0.349116533995	0.17792	T	0.031178	0.21924	T	-0.55784	0.00261	T	-0.65958	0.08294	T	0.00622321941114373	0.00069	T	0.741226	0.36032	T	0.06507903	0.13874	0.06342325	0.12561	0.06507903	0.13874	0.06342325	0.12561	-4.295	0.28149	T	.	.	0.083	0.09191	B	.;.	.;.	1.877155	0.23844	16.17	0.9222565022972089	0.21600	0.81674	0.41031	D	AEFI	0.285648	0.39823	N	-0.4903382203138	0.22397	1.19562	-0.328873585543794	0.27171	1.505821	5.3096257696072E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.11	2.28	0.27583	1.214000	0.32023	0.941000	0.22852	-0.192000	0.09343	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.5646:0.2769:0.1585	6.731	0.22569	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	960.83	35	chr2	209793761	.	C	G	960.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.833;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.005;SOR=0.703	GT:AD:DP:GQ:PL	0/1:40,38:78:99:971,0,981	5	0	1	0
chr2	222201817	222201817	-	A	UTR3	PAX3	NM_181457:c.*106_*107insT	.	.	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	287842	Waardenburg_syndrome|Craniofacial-deafness-hand_syndrome|not_provided	MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440|MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs552778546	0.2754	0.2853	0.2770	0.2737	0.2818	0.2746	0.2743	0.2809	0.2806	0.2280	0.1885	0.2779	0.2631	0.2428	0.2626	0.2818	0.2750	0.2734	0.2393	0.2287	0.2376	0.2413	0.3120	0.2371	0.2362	0.2977	0.2919	0.2002	0.1987	0.2236	0.2809	0.3104	0.2498	0.3211	0.2518	0.2275	0.3120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	136.17	26	chr2	222201817	.	C	CA	136.17	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.735;DP=131;ExcessHet=3.1439;FS=5.302;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=0.086;SOR=0.193	GT:AD:DP:GQ:PL	0/1:9,3:12:38:38,0,171	2	0	4	0
chr2	227293238	227293238	G	A	exonic	COL4A3	.	synonymous SNV	COL4A3:NM_000091:exon38:c.G3258A:p.G1086G	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	0	1496	26	0	0	26	0.00861498	.	.	YES	250646	Autosomal_recessive_Alport_syndrome|Inborn_genetic_diseases|not_specified|not_provided|Alport_syndrome	MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0040	0.00279553	0.0040	0.0009	0.0013	0	0.0003	0.0054	0.0033	0.0053	0.0040362	624	154602	rs147085074	0.0048	0.0048	0.0048	0.0048	0.0199	0.0047	0.0047	0.0169	0.0158	0.0011	0.0026	0.0300	2.519e-05	0.0005	0.0199	0.0046	0.0070	0.0047	0.0038	0.0038	0.0036	0.0041	0.0065	0.0036	0.0035	0.0055	0.0051	0.0008	0	0.0065	0.0302	0	0.0004	0.0136	0.0046	0.0057	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.013595	0.005051	0.012228	0.032164	0.050000	0.000000	0.000000	0.011364	0.08333	1416.83	33	chr2	227293238	.	G	A	1416.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.417;DP=290;ExcessHet=0;FS=4.448;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.555;SOR=0.885	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1427,0,1580	5	0	1	0
chr2	231214829	231214829	A	C	splicing	ARMC9	NM_001271466:exon4:c.178-2A>C;NM_001352757:exon4:c.178-2A>C;NM_001352756:exon4:c.178-2A>C;NM_025139:exon4:c.178-2A>C;NM_001352759:exon4:c.178-2A>C;NM_001352758:exon4:c.178-2A>C;NM_001352755:exon4:c.178-2A>C;NM_001291656:exon4:c.178-2A>C;NM_001352754:exon4:c.178-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.918	YES	1314209	Joubert_syndrome_30|not_provided	MONDO:MONDO:0033308,MedGen:C4539937,OMIM:617622|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248147660	4.105e-06	4.104e-06	4.084e-06	4.126e-06	0.0002	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	2.698e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21051	0.74878	D	0.165236	0.81124	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.050041	0.84110	28.2	0.9941196187467688	0.63310	0.96567	0.69787	D	AEFDGBCI	.	.	.	1.14020573753138	0.98813	19.47119	1.00156156981382	0.98658	18.93772	0.999999998037166	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.137589	0.03823	0	0.089874	0.02613	0	0.976313	0.79516	5.81	5.81	0.92413	7.260000	0.77799	10.900000	0.84134	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.9291:0.0:0.0709:0.0	11.228	0.48124	946	0.12043	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	760.83	35	chr2	231214829	.	A	C	760.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=209;ExcessHet=0;FS=1.435;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-1.473;SOR=1.209	GT:AD:DP:GQ:PL	0/1:19,27:46:99:771,0,484	5	0	1	0
chr2	233757013	233757013	T	G	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	1175	190	33	124	0	281	0.425113	.	.	YES	27327	not_provided|UGT1A8-related_condition|Gilbert_syndrome|Gilbert_syndrome,_susceptibility_to|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome,_type_II|Crigler-Najjar_syndrome_type_1|UGT1A9-related_disorder	MedGen:C3661900|.|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MedGen:C4016425|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.588059	.	.	.	.	.	.	.	.	0.483095	12574	26028	rs4124874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5551	0.5558	0.5568	0.5533	0.8203	0.5519	0.5506	0.8129	0.8099	0.8203	0.4823	0.4853	0.5378	0.3271	0.4919	0.5000	0.4377	0.5124	0.5886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	112.69	1	chr2	233757013	.	T	G	112.69	.	AC=3;AF=0.75;AN=4;BaseQRankSum=-0.967;DP=7;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=60;MQRankSum=0;QD=22.54;ReadPosRankSum=0.967;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	0	1	1	4
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	335	305	451	409	22	1291	0.675359	.	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1551.9	15	chr3	27721936	.	G	GCGGCGC	1551.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.241;DP=100;ExcessHet=0.1336;FS=1.246;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=28.74;ReadPosRankSum=1.93;SOR=0.859	GT:AD:DP:GQ:PL	0/1:4,5:9:99:198,0,133	3	1	2	0
chr3	49422261	49422261	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_000481:exon2:c.G101A:p.R34H,AMT:NM_001164710:exon2:c.G101A:p.R34H,AMT:NM_001164712:exon2:c.G101A:p.R34H	Glycine encephalopathy, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	519417	AMT-related_disorder|not_specified|Glycine_encephalopathy	.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	0.110851774611	0.0002	0.000798722	0.0007	0	0.0008	0.0001	0	0.0011	0.0022	6.056e-05	0.0006792	105	154602	rs138259479	0.0006	0.0006	0.0006	0.0006	0.0026	0.0006	0.0006	0.0016	0.0013	0.0003	0.0014	0.0068	0.0006	0	0.0026	0.0005	0.0009	3.478e-05	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0004	0.0010	0.0008	0.0002	0	0.0014	0.0055	0.0004	0	0.0136	0.0003	0.0033	0	0.034	0.44694	D	0.086	0.41239	T	0.043	0.21573	B	0.01	0.14941	B	0.086041	0.20609	N	0.458056	0.921099	0.38557	D	1.935	0.51832	L	-2.25	0.87272	D	-2.33	0.51646	N	0.306	0.36674	-0.4394	0.70750	T	0.422	0.76704	T	10	0.009922236	0.00222	T	0.110852	0.78841	D	0.245	0.55201	.	.	0.888630123247	0.88753	0.521916422324907	0.52114	0.259290870821	0.28487	0.547091364861	0.45447	T	0.758974	0.93456	D	-0.283313	0.10319	T	-0.220269	0.52712	T	0.0309152529840393	0.02132	T	0.90021	0.80559	D	0.21066408	0.43370	0.23461767	0.48683	0.29170662	0.52151	0.24508521	0.49988	-7.911	0.61159	D	0.2307966069433357	0.31230	0.104	0.31608	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.145315	0.42554	21.6	0.99192808619031747	0.55024	0.41764	0.26729	N	AEFDGBHCI	0.088845	0.18010	N	-0.542625678991445	0.20715	1.094093	-0.49958238268973	0.22166	1.202601	0.999999980471806	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.528226	0.09195	0	.	.	4.69	1.78	0.23918	0.312000	0.19147	0.630000	0.20219	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.509000	0.29221	0.0:0.682:0.0:0.318	7.665	0.27595	1	0.99630	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.004532	0.015152	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1764.83	34	chr3	49422261	.	C	T	1764.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.852;DP=324;ExcessHet=0;FS=1.433;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.399;SOR=0.528	GT:AD:DP:GQ:PL	0/1:57,68:125:99:1775,0,1491	5	0	1	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	Charcot-Marie-Tooth_disease_type_2B|not_provided	MONDO:MONDO:0010949,MedGen:C1833219,OMIM:600882,Orphanet:99936|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	149.12	12	chr3	128813605	.	A	G	149.12	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.83;DP=37;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.3;ReadPosRankSum=1.28;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,4:7:99:0|1:128813603_G_A:159,0,108:128813603	5	0	1	0
chr3	149172318	149172318	-	CACA	UTR3	HPS3	NM_001308258:c.*96_*97insCACA;NM_032383:c.*96_*97insCACA	.	.	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	289088	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs374839757	0.1024	0.0998	0.1004	0.1041	0.1572	0.1016	0.1013	0.1528	0.1510	0.0572	0.0746	0.0510	0.1572	0.1543	0.0386	0.0972	0.0986	0.1216	0.1386	0.1400	0.1352	0.1421	0.2299	0.1370	0.1363	0.2187	0.2142	0.0804	0.1479	0.1238	0.0817	0.2299	0.2501	0.0664	0.1548	0.1201	0.1704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	349.27	7	chr3	149172318	.	T	TCACA	349.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.431;DP=71;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.652;SOR=1.022	GT:AD:DP:GQ:PL	0/1:6,3:9:99:108,0,243	5	0	1	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1498.22	26	chr3	160258644	.	G	GA	1498.22	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.774;DP=215;ExcessHet=2.3007;FS=2.566;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.385;SOR=0.465	GT:AD:DP:GQ:PL	0/1:16,12:28:99:254,0,370	1	1	4	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F,SLC2A2:NM_001278659:exon10:c.C918T:p.F306F,SLC2A2:NM_000340:exon11:c.C1437T:p.F479F	Fanconi-Bickel syndrome, Autosomal recessive	2	712	648	160	0	968	0.404682	.	.	.	135795	not_specified|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.367440	0.439394	0.398098	0.333333	0.450000	0.379310	0.328221	0.310606	0.25	3841.0	40	chr3	170998041	.	G	A	3841.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.711;DP=348;ExcessHet=0;FS=3.119;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=0.942;SOR=0.462	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1168,0,1336	4	1	1	0
chr3	180631496	180631496	C	A	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon14:c.G1971T:p.E657D	Ciliary dyskinesia, primary, 14	.	.	.	.	.	.	.	.	.	YES	953400	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	.	.	.	.	.	.	.	.	0.049	0.00282973396555	0.0003	0.000199681	0.0001	0.0013	0	0	0	1.517e-05	0	0	0.0001035	16	154602	rs111451119	5.019e-05	4.994e-05	5.885e-05	4.144e-05	0.0013	4.079e-05	3.753e-05	0.0010	0.0008	0.0013	4.476e-05	0	2.521e-05	0	0	9.002e-07	0.0004	2.322e-05	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	6.539e-05	0	0.0002	0	0	0	0	0	0.212	0.19500	T	0.127	0.35082	T	0.384	0.34453	B	0.166	0.35067	B	0.000097	0.51296	D	0.168703	0.885558	0.29934	N	1.825	0.47900	L	.	.	.	-1.11	0.28703	N	0.292	0.33030	-1.0300	0.20454	T	0.091	0.34901	T	9	0.021162093	0.00501	T	0.00283	0.05927	T	0.049	0.13647	0.322	0.30226	0.301455362545	0.29754	.	.	0.124896844597	0.14072	0.64540541172	0.59333	T	8.1E-4	0.00397	T	-0.516635	0.00460	T	-0.520435	0.20250	T	0.0450525960272137	0.04612	T	0.666933	0.27600	T	0.08411591	0.19456	0.09704101	0.23083	0.08411591	0.19456	0.09704101	0.23082	-7.289	0.56117	T	.	.	.	.	.	.	.	2.376447	0.30503	18.46	0.9940770537350605	0.63122	0.51269	0.28856	D	AEFDBHCI	0.150302	0.27456	N	-0.0958570609607922	0.37574	2.187963	-0.0336439488967827	0.38205	2.247643	0.999840597844066	0.43971	0.533608	0.22052	0	0.61073	0.52368	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	4.87	2.11	0.26299	1.264000	0.32618	0.976000	0.23092	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.6654:0.0:0.3346	7.784	0.28247	597	0.68309	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1042.83	35	chr3	180631496	.	C	A	1042.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.196;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=1.75;SOR=0.704	GT:AD:DP:GQ:PL	0/1:25,41:66:99:1053,0,627	5	0	1	0
chr3	195867623	195867623	C	T	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G2726A:p.R909H,TNK2:NM_001382271:exon12:c.G2726A:p.R909H,TNK2:NM_005781:exon12:c.G2630A:p.R877H,TNK2:NM_001010938:exon13:c.G2747A:p.R916H,TNK2:NM_001382272:exon13:c.G2747A:p.R916H,TNK2:NM_001382273:exon13:c.G2675A:p.R892H,TNK2:NM_001382274:exon13:c.G2675A:p.R892H,TNK2:NM_001382275:exon13:c.G2771A:p.R924H	.	400	1078	42	2	0	46	0.0208901	.	.	YES	226709	Parkinson_disease|not_specified|not_provided	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.068	.	0.0125	0.0123802	0.0154	0.0034	0.0042	0.0262	0.0084	0.0175	0.0117	0.0191	0.014256	2204	154602	rs112384084	0.0178	0.0177	0.0181	0.0176	0.0310	0.0177	0.0176	0.0295	0.0289	0.0029	0.0046	0.0062	0.0310	0.0088	0.0122	0.0192	0.0160	0.0168	0.0116	0.0116	0.0122	0.0109	0.0256	0.0111	0.0109	0.0220	0.0207	0.0029	0.0252	0.0092	0.0061	0.0256	0.0056	0	0.0173	0.0090	0.0151	0.023	0.48186	D	0.011	0.64786	D	0.001	0.45487	B	0.001	0.36635	B	0.006811	0.31785	N	0.269352	1	0.08975	N	1.75	0.45442	L	2.58	0.78314	T	-2.66	0.56945	D	0.316	0.35620	-0.8706	0.50484	T	0.108	0.39123	T	10	0.003913641	0.00075	T	.	.	.	0.068	0.19811	.	.	.	.	0.2962447242822695	0.29537	0.00608565397197	0.00532	0.361748546362	0.19640	T	0.164185	0.62476	T	-0.457805	0.01014	T	-0.411458	0.32056	T	0.0227457157469213	0.00993	T	0.814719	0.47762	T	0.029449383	0.02443	0.04295818	0.05234	0.029449383	0.02442	0.04295818	0.05234	-4.301	0.28191	T	.	.	0.084	0.20819	B	.;.;.;.	.;.;.;.	1.501373	0.19302	14.19	0.99242210944040943	0.56597	0.10679	0.16116	N	AEFBI	0.105615	0.21099	N	-0.612583560552999	0.18565	0.9648751	-0.643368426731154	0.18384	0.9818554	0.0543882488054926	0.14972	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.61	0.166	0.14287	0.806000	0.26786	-3.504000	0.02736	-0.839000	0.02805	0.287000	0.25205	0.000000	0.08366	0.344000	0.25523	0.0:0.4359:0.0:0.5641	9.199	0.36411	889	0.27310	.;.;.;.	.	.	.	.	rs112384084	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	0.012121	0.005102	0.005450	0.005882	0.000000	0.000000	0.018405	0.030303	0.1667	586.06	37	chr3	195867623	.	C	T	586.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.86;DP=210;ExcessHet=0.4139;FS=3.583;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=1.65;SOR=1.174	GT:AD:DP:GQ:PL	0/1:18,6:24:99:162,0,470	4	0	2	0
chr4	3074876	3074876	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.51_52insCAG:p.Q38_P39insQ	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1291917	not_specified|Huntington_disease	MedGen:CN169374|MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100,Orphanet:248111,Orphanet:399	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0520	0.0070	0.0349	0.0263	0	0.0594	0.1154	0.0528	0.0036481	564	154602	rs763773724	0.0597	0.0577	0.0595	0.0599	0.0625	0.0593	0.0592	0.0621	0.0619	0.0417	0.0427	0.0825	0.0229	0.0498	0.0559	0.0625	0.0579	0.0494	0.0586	0.0582	0.0608	0.0562	0.0688	0.0575	0.0571	0.0671	0.0664	0.0492	0.0063	0.0523	0.0878	0.0245	0.0515	0.0476	0.0688	0.0551	0.0433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3228.49	36	chr4	3074876	.	C	CCAG	3228.49	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=28.38;ReadPosRankSum=0.874;SOR=0.904	GT:AD:DP:GQ:PL	0/1:0,4:12:99:411,282,270	5	0	1	0
chr4	5628743	5628743	-	AA	intronic	EVC2	.	.	.	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	298770	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0740815	0.0492	0.1960	0.0298	0	0.0759	0.0425	0.0466	0.0065	0.0013447	35	26028	rs1169314367	0.0404	0.0370	0.0414	0.0393	0.1983	0.0401	0.0400	0.1942	0.1925	0.1983	0.0327	0.0253	8.361e-05	0.0654	0.0645	0.0384	0.0444	0.0075	0.0913	0.0915	0.0907	0.0919	0.2185	0.0900	0.0895	0.2147	0.2132	0.2185	0.0629	0.0520	0.0211	0.0002	0.0789	0.0753	0.0413	0.0693	0.0090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3948.62	74	chr4	5628743	.	T	TAA	3948.62	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.917;DP=460;ExcessHet=6.1542;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.392;SOR=0.678	GT:AD:DP:GQ:PL	0/1:33,23:56:99:638,0,1069	5	0	1	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	306	693	523	0	1739	0.739685	.	.	.	54598	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.75	31471.7	216	chr4	6300980	.	C	T	31471.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-3.122;DP=1450;ExcessHet=1.383;FS=0.585;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=22.34;ReadPosRankSum=-0.927;SOR=0.73	GT:AD:DP:GQ:PL	0/1:95,92:187:99:2690,0,2815	0	3	3	0
chr4	6301089	6301089	C	G	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.C1294G:p.L432V,WFS1:NM_006005:exon8:c.C1294G:p.L432V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1483	39	0	0	39	0.0129784	.	.	.	141616	not_provided|Meniere_disease|Wolfram_syndrome_1|WFS1-Related_Spectrum_Disorders|Monogenic_diabetes|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_specified	MedGen:C3661900|MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MedGen:CN239410|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.799	0.631986708747	0.0038	0.00279553	0.0036	0.0006	0.0034	0	0.0002	0.0054	0.0022	0.0020	0.0035963	556	154602	rs35031397	0.0038	0.0038	0.0038	0.0038	0.0147	0.0037	0.0037	0.0122	0.0113	0.0008	0.0044	0.0148	2.519e-05	0.0004	0.0147	0.0039	0.0050	0.0020	0.0031	0.0031	0.0031	0.0031	0.0044	0.0029	0.0028	0.0039	0.0037	0.0008	0.0022	0.0044	0.0141	0.0002	0	0.0238	0.0043	0.0099	0.0008	0.027	0.46513	D	0.013	0.63109	D	1.0	0.90584	D	0.995	0.83170	D	0.000002	0.62929	D	0.000000	0.999822	0.49512	D	2.83	0.82355	M	-3.13	0.92829	D	-2.27	0.50666	N	0.782	0.77883	0.668	0.92777	D	0.792	0.92945	D	10	0.03004542	0.01131	T	0.631987	0.96842	D	0.799	0.93425	.	.	0.954339803291	0.95385	0.8094131245064289	0.80896	.	.	0.549522697926	0.45791	T	0.404214	0.76074	T	-0.020888	0.48728	T	0.200945	0.83179	D	0.040408633033633	0.03765	T	0.882012	0.60217	D	0.15146889	0.34432	0.15146093	0.35677	0.16020355	0.35944	0.15783978	0.36888	-3.917	0.22557	T	0.8131656937764546	0.88769	0.353	0.58446	A	.;.	.;.	3.074315	0.41339	21.3	0.99665888994743779	0.78266	0.91363	0.53383	D	AEFBI	0.483112	0.52369	N	0.579516302491356	0.71896	5.72132	0.509547715557786	0.68631	5.246821	0.818714971318017	0.24485	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	1.740000	0.37852	4.898000	0.45831	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.8975:0.0:0.1025	10.341	0.43062	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.000000	0.017663	0.000000	0.000000	0.017241	0.009146	0.022727	0.08333	2856.83	146	chr4	6301089	.	C	G	2856.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.321;DP=933;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.168;SOR=0.668	GT:AD:DP:GQ:PL	0/1:82,100:182:99:2867,0,2341	5	0	1	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.75	20325.7	147	chr4	6301295	.	C	T	20325.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=2.02;DP=964;ExcessHet=1.383;FS=1.193;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=21.42;ReadPosRankSum=-1.333;SOR=0.808	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1620,0,2147	0	3	3	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8564.51	106	chr4	9783510	.	T	C	8564.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.62;DP=423;ExcessHet=0.095;FS=11.012;MLEAC=6;MLEAF=0.5;MQ=59.94;MQRankSum=1.21;QD=24.82;ReadPosRankSum=-0.878;SOR=1.273	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2956,249,0	2	2	2	0
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.8333	23731.2	162	chr4	38797027	.	C	A	23731.2	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-2.965;DP=912;ExcessHet=0.4139;FS=0.699;MLEAC=10;MLEAF=0.833;MQ=53.81;MQRankSum=-7.152;QD=26.78;ReadPosRankSum=1.48;SOR=0.638	GT:AD:DP:GQ:PL	1/1:0,130:130:99:4453,390,0	0	4	2	0
chr4	166099403	166099403	G	A	exonic	TLL1	.	nonsynonymous SNV	TLL1:NM_012464:exon20:c.G2783A:p.R928Q	Atrial septal defect 6, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	2414105	Atrial_septal_defect_6|not_provided|TLL1-related_disorder	MONDO:MONDO:0013123,MedGen:C2751315,OMIM:613087,Orphanet:1478|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.00873841127277	0.0010	0.000998403	0.0006	0.0003	0.0005	0.0001	0.0002	0.0008	0.0011	6.056e-05	0.0005757	89	154602	rs116616112	0.0006	0.0006	0.0006	0.0006	0.0012	0.0006	0.0005	0.0007	0.0007	0.0001	0.0010	0	2.521e-05	0.0001	0.0012	0.0007	0.0006	8.117e-05	0.0006	0.0006	0.0008	0.0004	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0.0044	0.0005	0	0.0002	0.0002	0	0.0010	0.0005	0.0004	0.177	0.23541	T	0.306	0.20100	T	0.729	0.44062	P	0.395	0.47621	B	0.013347	0.28869	U	0.323587	0.981555	0.39790	D	1.565	0.39561	L	2.27	0.17431	T	-0.6	0.17834	N	0.438	0.47672	-1.1490	0.01055	T	0.044	0.18948	T	10	0.033042967	0.01470	T	0.008738	0.23074	T	0.222	0.51872	.	.	0.503063991398	0.49945	0.3162779438732847	0.31540	0.426674521669	0.43039	0.344030320644	0.17039	T	0.043531	0.26531	T	-0.415716	0.01822	T	-0.433303	0.29561	T	0.037443054339881	0.03234	T	0.793521	0.43550	T	0.14457048	0.33178	0.106167816	0.25534	0.14457048	0.33178	0.106167816	0.25534	-6.871	0.53085	T	.	.	0.087	0.11414	B	.;.	.;.	4.651916	0.74163	26.1	0.99866210506431563	0.94457	0.98009	0.78839	D	AEFI	0.922621	0.89787	D	0.289271167855838	0.55604	3.724431	0.303693461057577	0.55755	3.738462	0.380373065547268	0.19955	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.76	4.89	0.63387	6.817000	0.75042	4.922000	0.46051	0.672000	0.70159	1.000000	0.71638	0.968000	0.29604	0.003000	0.05239	0.0:0.1275:0.8725:0.0	18.449	0.90643	874	0.30607	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1138.83	33	chr4	166099403	.	G	A	1138.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.86;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.425;SOR=0.662	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1149,0,1575	5	0	1	0
chr4	177442342	177442342	C	A	exonic	AGA	.	nonsynonymous SNV	AGA:NM_000027:exon1:c.G34T:p.V12L,AGA:NM_001171988: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	.	.	.	.	.	.	.	.	0.232	.	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	0	0	0.020645	0.010101	0.023098	0.049708	0.000000	0.008621	0.015244	0.007576	0.08333	633.83	36	chr4	177442342	.	C	A	633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.975;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.478;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,26:44:99:644,0,502	5	0	1	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1840.53	19	chr5	13886135	.	CAAA	C	1840.53	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.796;DP=175;ExcessHet=1.383;FS=2.907;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=19.58;ReadPosRankSum=0.996;SOR=0.314	GT:AD:DP:GQ:PL	0/1:0,12:16:34:499,71,34	3	0	3	0
chr5	35072610	35072610	T	G	exonic	PRLR	.	nonsynonymous SNV	PRLR:NM_001204314:exon3:c.A205C:p.I69L,PRLR:NM_001204315:exon5:c.A508C:p.I170L,PRLR:NM_001204316:exon5:c.A508C:p.I170L,PRLR:NM_001204317:exon5:c.A508C:p.I170L,PRLR:NM_001204318:exon5:c.A508C:p.I170L,PRLR:NM_000949:exon6:c.A508C:p.I170L	Multiple fibroadenomas of the breast, Autosomal dominant	416	1062	42	2	0	46	0.0211982	.	.	YES	94550	PRLR-related_disorder|Multiple_fibroadenoma_of_the_breast	.|MONDO:MONDO:0014249,MedGen:C3809918,OMIM:615554,Orphanet:50920	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.0184	0.0125799	0.0190	0.0072	0.0120	0	0.0251	0.0271	0.0220	0.0058	0.0192624	2978	154602	rs72478580	0.0244	0.0244	0.0248	0.0239	0.0278	0.0241	0.0241	0.0275	0.0274	0.0085	0.0153	0.0203	0	0.0240	0.0258	0.0278	0.0222	0.0054	0.0184	0.0185	0.0190	0.0178	0.0257	0.0178	0.0176	0.0247	0.0243	0.0080	0	0.0235	0.0153	0.0004	0.0214	0.0306	0.0257	0.0194	0.0062	1.0	0.00964	T	1.0	0.01155	T	0.0	0.09854	B	0.003	0.19346	B	0.037209	0.24429	N	0.468375	0.637774	0.32848	D	0.355	0.11969	N	1.07	0.39586	T	-0.01	0.09627	N	0.158	0.17140	-1.0196	0.23845	T	0.008	0.02720	T	10	0.005667001	0.00126	T	.	.	.	0.044	0.11924	.	.	.	.	0.5736534138545916	0.57294	.	.	0.377462595701	0.21896	T	0.166969	0.51342	T	-0.616462	0.00116	T	-0.634597	0.10068	T	0.00174922258643195	0.00018	T	0.70183	0.31167	T	0.1237871	0.29058	0.053469297	0.09011	0.1237871	0.29058	0.039832175	0.04167	-3.157	0.35847	T	0.15361845584649098	0.18288	0.097	0.36850	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.708496	0.10771	7.459	0.58071770559781388	0.05910	0.62569	0.31821	D	AEFGI	0.160074	0.28596	N	-0.981828443610727	0.08992	0.423768	-0.804381192307477	0.14390	0.7516052	0.0153440461698801	0.12703	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	-1.03	0.09586	0.156000	0.16200	0.535000	0.19282	-0.120000	0.14102	0.993000	0.37899	0.999000	0.35428	0.692000	0.33898	0.2079:0.3206:0.208:0.2636	0.872	0.01139	682	0.59757	.;.;.;.;.;.;.;Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022659	0.020202	0.031250	0.011696	0.050000	0.034483	0.033537	0.003788	0.1667	2298.06	109	chr5	35072610	.	T	G	2298.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.74;DP=325;ExcessHet=0.4139;FS=1.829;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.39;SOR=0.843	GT:AD:DP:GQ:PL	0/1:35,36:71:99:890,0,884	4	0	2	0
chr5	35876422	35876422	C	G	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon8:c.C1316G:p.T439S	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	721440	Immunodeficiency_104	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.00974582969322	0.0002	0.000199681	0.0004	0.0002	0.0005	0	0	0.0005	0.0011	0.0005	0.0003881	60	154602	rs148931962	0.0003	0.0003	0.0003	0.0003	0.0052	0.0003	0.0003	0.0037	0.0032	2.987e-05	0.0005	0	0	0	0.0052	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0002	0.0006	0.0005	0.0001	0	0.0010	0	0	0	0.0102	0.0004	0.0009	0.0004	0.41	0.10148	T	0.663	0.06448	T	0.024	0.19075	B	0.005	0.11217	B	0.840524	0.09037	N	0.933160	1	0.30258	N	1.095	0.27400	L	1.83	0.24841	T	-0.25	0.11008	N	0.05	0.02179	-0.9711	0.36967	T	0.103	0.37969	T	10	0.025248855	0.00725	T	0.009746	0.25449	T	0.113	0.31778	0.59	0.71874	0.491317756052	0.48765	0.33545629895792106	0.33458	0.0165124899938	0.01591	0.342507779598	0.16813	T	0.145413	0.48253	T	-0.446732	0.01180	T	-0.538927	0.18402	T	0.0183760260577019	0.00555	T	0.437256	0.12012	T	0.08174318	0.18799	0.048332345	0.07155	0.07035484	0.15490	0.052422184	0.08632	-2.977	0.09935	T	0.4053687355797069	0.49654	0.094	0.14568	B	.	.	0.845452	0.12176	8.721	0.89456034914060323	0.18812	0.08904	0.14761	N	AEFGBCI	0.061057	0.11646	N	-0.66506239173422	0.17023	0.8724526	-0.673575151583588	0.17623	0.937902	0.999998903750716	0.74766	0.653281	0.48532	0	0.616935	0.53198	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.46	4.57	0.55860	0.426000	0.21081	1.775000	0.28667	0.599000	0.40250	0.049000	0.21372	0.277000	0.24084	0.082000	0.17360	0.0:0.8264:0.1736:0.0	12.068	0.52899	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1091.83	36	chr5	35876422	.	C	G	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.719;DP=266;ExcessHet=0;FS=3.081;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-1.044;SOR=0.371	GT:AD:DP:GQ:PL	0/1:41,41:82:99:1102,0,1099	5	0	1	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.8333	11891.2	91	chr5	138556481	.	G	A	11891.2	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-1.906;DP=497;ExcessHet=0.4139;FS=3.579;MLEAC=10;MLEAF=0.833;MQ=59.99;MQRankSum=0;QD=24.27;ReadPosRankSum=1.98;SOR=0.692	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1982,177,0	0	4	2	0
chr5	149944375	149944375	C	T	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G299A:p.R100Q	Retinitis pigmentosa 43	0	1514	8	0	0	8	0.00263505	.	.	.	298113	not_provided|Retinitis_pigmentosa_43|Usher_syndrome|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.620	0.0613741473385	7.7e-05	0.000599042	0.0005	9.612e-05	8.639e-05	0	0	0.0001	0	0.0028	0.0004075	63	154602	rs199738915	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	6.709e-05	3.826e-05	2.519e-05	0	0.0014	0.0003	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	4.816e-05	0	0.0002	0.0003	0.0002	0	0	0.0001	0.0005	0.0037	0.052	0.39097	T	0.049	0.48336	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	2.355	0.67662	M	-0.41	0.69413	T	-3.22	0.64939	D	0.896	0.89577	-0.1886	0.77963	T	0.460	0.79066	T	10	0.096933514	0.17421	T	0.061374	0.68310	D	0.620	0.85249	.	.	0.919440382184	0.91862	0.3172496280650157	0.31637	0.530887566626	0.50614	0.45652359724	0.32834	T	0.29179	0.85714	T	-0.0983919	0.36693	T	0.0825257	0.75747	D	0.162289581350882	0.18039	T	0.990041	0.96927	D	0.67535186	0.76720	0.47112358	0.69334	0.67535186	0.76721	0.47112358	0.69335	-11.141	0.80425	D	0.3554479733420268	0.45233	0.756	0.75317	P	.;.;.	.;.;.	5.246197	0.88079	29.5	0.99955934460348494	0.99975	0.98544	0.83920	D	AEFBI	0.937248	0.93476	D	0.77976261141028	0.84823	8.397035	0.76699137000927	0.87421	9.21608	0.999999999999794	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:1.0:0.0:0.0	16.810	0.85579	685	0.59416	.;GAF domain|GAF 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	.	.	.	.	.	.	.	.	0.08333	527.83	44	chr5	149944375	.	C	T	527.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.082;DP=267;ExcessHet=0;FS=3.431;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=-1.128;SOR=0.544	GT:AD:DP:GQ:PL	0/1:45,23:68:99:538,0,1233	5	0	1	0
chr5	149944400	149944400	C	T	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G274A:p.D92N	Retinitis pigmentosa 43	0	1514	8	0	0	8	0.00263505	.	.	.	296294	not_provided|Retinitis_pigmentosa_43|Usher_syndrome|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.784	0.113893226854	7.7e-05	0.000599042	0.0005	9.612e-05	8.637e-05	0	0	0.0001	0	0.0028	0.0004075	63	154602	rs199924410	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	2.987e-05	6.708e-05	3.826e-05	0	0	0.0014	0.0003	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0001	0.0024	0.0020	2.406e-05	0	0.0002	0.0003	0	0	0	0.0001	0.0005	0.0037	0.014	0.53172	D	0.004	0.76473	D	0.828	0.46021	P	0.58	0.50189	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.555	0.93317	H	-0.79	0.73739	T	-4.06	0.74582	D	0.897	0.90025	0.401	0.89115	D	0.586	0.85167	D	10	0.15233639	0.28777	T	0.113893	0.79256	D	0.784	0.92827	.	.	0.959201930552	0.95876	0.46917647258422523	0.46836	0.492454931877	0.47890	0.571771860123	0.48929	T	0.477473	0.93548	T	-0.286847	0.09955	T	-0.188177	0.55760	T	0.322011649589756	0.25903	T	0.975602	0.91418	D	0.7080398	0.78500	0.6784628	0.81113	0.7080398	0.78501	0.6784628	0.81113	-11.987	0.84788	D	0.5802175747067403	0.64707	0.301	0.53080	B	.;.;.	.;.;.	4.771144	0.77233	26.7	0.99902036683565598	0.97350	0.98544	0.83920	D	AEFBI	0.940572	0.94270	D	0.809232720125816	0.86682	8.963824	0.788593331931833	0.88989	9.794523	0.999999999999794	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	5.981000	0.52169	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	16.810	0.85579	685	0.59416	.;GAF domain|GAF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	488.83	44	chr5	149944400	.	C	T	488.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.418;DP=268;ExcessHet=0;FS=2.197;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-0.933;SOR=0.592	GT:AD:DP:GQ:PL	0/1:48,21:69:99:499,0,1397	5	0	1	0
chr5	149984686	149984686	C	T	UTR3	SLC26A2	NM_000112:c.*2873C>T	.	.	Achondrogenesis Ib, Autosomal recessive;Atelosteogenesis II, Autosomal recessive;De la Chapelle dysplasia, Autosomal recessive;Diastrophic dysplasia, Autosomal recessive;Diastrophic dysplasia, broad bone-platyspondylic variant, Autosomal recessive;Epiphyseal dysplasia, multiple, 4, Autosomal recessive	1197	321	1	3	0	7	0.0107858	.	.	.	893555	Sulfate_transporter-related_osteochondrodysplasia|Achondrogenesis,_type_IB|Multiple_epiphyseal_dysplasia_type_4|Atelosteogenesis_type_II|Diastrophic_dysplasia	MedGen:CN120497|MONDO:MONDO:0010966,MedGen:C0265274,OMIM:600972,Orphanet:932,Orphanet:93298|MONDO:MONDO:0009189,MedGen:C1847593,OMIM:226900,Orphanet:93307|MONDO:MONDO:0009727,MedGen:C1850554,OMIM:256050,Orphanet:56304|MONDO:MONDO:0009107,MedGen:C0220726,OMIM:222600,Orphanet:628	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00539137	.	.	.	.	.	.	.	.	0.0019469	301	154602	rs114919633	0.1250	0.0004	0	0.2500	0.1667	0	0	.	.	.	.	.	.	.	.	0.1667	0	.	0.0097	0.0097	0.0093	0.0100	0.0146	0.0093	0.0091	0.0131	0.0125	0.0030	0.0976	0.0146	0.0055	0	0.0138	0.0374	0.0120	0.0152	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	78.68	.	chr5	149984686	.	C	T	78.68	.	AC=2;AF=0.333;AN=6;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=26.23;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	2	1	0	3
chr5	172454519	172454519	G	C	UTR5	SH3PXD2B	NM_001308175:c.-167C>G;NM_001017995:c.-167C>G	.	.	Frank-ter Haar syndrome, Autosomal recessive	604	714	108	96	0	300	0.173611	.	.	.	893952	Frank-Ter_Haar_syndrome|not_provided	MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112436148	0.2879	0.1737	0.2868	0.2890	0.3021	0.2817	0.2792	0.2953	0.2925	0.1436	0.2857	0.2167	0.1533	0.3621	0.1800	0.3021	0.2541	0.1656	0.2811	0.2891	0.2859	0.2759	0.3464	0.2787	0.2778	0.3425	0.3410	0.2019	0.4053	0.2760	0.2721	0.1487	0.2680	0.3209	0.3464	0.2888	0.1827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	68.9	5	chr5	172454519	.	G	C	68.9	.	AC=1;AF=0.25;AN=4;BaseQRankSum=0.431;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.97;ReadPosRankSum=0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:32:74,0,32	1	0	1	4
chr6	6174633	6174633	G	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon12:c.C1694T:p.P565L	Factor XIIIA deficiency, Autosomal recessive	4	868	532	118	0	768	0.306709	.	.	.	252448	not_provided|Factor_XIII,_A_subunit,_deficiency_of|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	.	0.1925	0.240415	0.2160	0.1520	0.0939	0.3199	0.2052	0.2048	0.2313	0.3360	0.209965	32461	154602	rs5982	0.2156	0.2156	0.2117	0.2195	0.3279	0.2149	0.2147	0.3247	0.3234	0.1539	0.1013	0.2210	0.3015	0.2031	0.2525	0.2100	0.2248	0.3279	0.1958	0.1960	0.1933	0.1985	0.3479	0.1940	0.1932	0.3340	0.3284	0.1586	0.2029	0.1354	0.2190	0.3065	0.2133	0.2687	0.2087	0.1957	0.3479	0.729	0.03823	T	0.665	0.06406	T	.	.	.	.	.	.	0.138901	0.18362	N	0.568490	1	0.08975	P	.	.	.	-0.06	0.63568	T	0.31	0.04022	N	0.036	0.01068	-1.0809	0.07175	T	0.040	0.17149	T	9	0.0069898665	0.00159	T	.	.	.	0.077	0.22490	.	.	.	.	0.5783212436962746	0.57761	0.227437257193	0.25295	0.354513347149	0.18584	T	.	.	.	-0.666851	0.00057	T	-0.586841	0.13941	T	0.0120128747694183	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	2.677165	0.34918	19.76	0.3814487705666012	0.02555	0.45118	0.27468	N	AEFDGBI	0.423562	0.48910	N	-0.656020314291582	0.17286	0.8881491	-0.481416803574241	0.22666	1.232241	0.982481270091029	0.30405	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	2.576000	0.45698	8.492000	0.77332	0.665000	0.62972	0.643000	0.28111	1.000000	0.68203	0.253000	0.23340	0.0763:0.0:0.9237:0.0	12.334	0.54383	946	0.12043	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.245217	0.247475	0.213315	0.292398	0.200000	0.250000	0.216463	0.261364	0.3333	8770.94	147	chr6	6174633	.	G	A	8770.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.04;DP=539;ExcessHet=0.1336;FS=1.282;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=20.83;ReadPosRankSum=1.99;SOR=0.795	GT:AD:DP:GQ:PL	0/1:49,60:109:99:1563,0,1093	3	1	2	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8333	58405.1	351	chr6	7585734	.	G	C	58405.1	.	AC=10;AF=0.833;AN=12;DP=1793;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;QD=34.28;SOR=0.953	GT:AD:DP:GQ:PL	1/1:0,281:281:99:9870,844,0	1	5	0	0
chr6	16327685	16327687	TGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.Q208del,ATXN1:NM_000332:exon8: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5909.42	48	chr6	16327684	.	ATGC	A	5909.42	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.556;DP=327;ExcessHet=0;FS=1.825;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=34.97;ReadPosRankSum=0.102;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,14:37:99:0|1:16327675_CTGA_C:727,0,817:16327675	5	0	1	0
chr6	32041093	32041093	C	T	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon9:c.C1357T:p.P453S,CYP21A2:NM_001368144:exon9:c.C1042T:p.P348S,CYP21A2:NM_000500:exon10:c.C1447T:p.P483S,CYP21A2:NM_001368143:exon10:c.C1042T:p.P348S	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	7	1504	10	1	0	12	0.00397351	.	.	YES	587370	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|Congenital_adrenal_hyperplasia|CYP21A2-related_disorder|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.510	0.726462387047	.	.	0.0010	0	0.0013	0	0	0.0015	0.0044	0.0004	0.0004592	71	154602	rs776989258	0.0005	0.0005	0.0005	0.0005	0.0102	0.0005	0.0004	0.0079	0.0070	0.0006	0.0009	0.0006	0	0	0.0102	0.0005	0.0007	0.0002	0.0004	0.0004	0.0005	0.0004	0.0007	0.0004	0.0003	0.0004	0.0004	0.0002	0.0067	0.0007	0.0006	0	0	0	0.0005	0.0010	0.0004	0.017	0.51248	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.008303	0.30907	N	0.151867	0.978404	0.39459	D	.	.	.	-1.49	0.81235	T	-3.61	0.72710	D	0.719	0.72120	-0.3104	0.74693	T	0.314	0.68361	T	10	0.19951808	0.35963	T	0.726462	0.97794	D	0.510	0.78971	0.762	0.89053	0.798317084126	0.79643	0.7628597569142505	0.76233	0.0610399350882	0.06795	0.436037421227	0.30035	T	.	.	.	-0.225893	0.17195	T	-0.198093	0.54826	T	0.100600972771645	0.12423	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.39254	B	.;.;.;.	.;.;.;.	4.660068	0.74370	26.1	0.99903007287085799	0.97426	0.96959	0.71882	D	AEFGI	0.773592	0.70756	D	0.284674302490804	0.55371	3.701219	0.294644100257834	0.55227	3.685858	0.460908789788945	0.20623	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.3	4.43	0.52967	2.136000	0.41744	.	.	0.592000	0.32167	0.997000	0.40164	1.000000	0.68203	0.577000	0.30821	0.0:0.9069:0.0:0.0931	10.142	0.41915	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.006889	0.006098	0.013699	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	183.83	31	chr6	32041093	.	C	T	183.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.234;DP=197;ExcessHet=0;FS=1.585;MLEAC=1;MLEAF=0.083;MQ=54.73;MQRankSum=0.355;QD=5.74;ReadPosRankSum=-0.44;SOR=1.284	GT:AD:DP:GQ:PL	0/1:23,9:32:99:194,0,602	5	0	1	0
chr6	32050104	32050104	G	A	exonic	TNXB	.	synonymous SNV	TNXB:NM_001365276:exon27:c.C9333T:p.D3111D,TNXB:NM_019105:exon27:c.C9327T:p.D3109D	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1509	12	0	1	13	0.0039604	.	.	.	1176751	TNXB-related_disorder|Ehlers-Danlos_syndrome|Cardiovascular_phenotype|not_specified|not_provided	.|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0006	0	0.0007	0.0001	0	0.0008	0.0023	0.0003	5.17e-05	8	154602	rs201708930	0.0005	0.0005	0.0005	0.0005	0.0094	0.0005	0.0004	0.0074	0.0067	0.0006	0.0008	0.0007	0	0	0.0094	0.0005	0.0006	0.0003	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0004	0.0004	0.0002	0.0066	0.0007	0.0009	0	0	0	0.0006	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	1323.83	34	chr6	32050104	.	G	A	1323.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.26;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.48;MQRankSum=-0.785;QD=11.12;ReadPosRankSum=1.02;SOR=0.696	GT:AD:DP:GQ:PL	0/1:67,52:119:99:1334,0,1588	5	0	1	0
chr6	32096594	32096594	A	G	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon3:c.T1259C:p.V420A,TNXB:NM_019105:exon3:c.T1259C:p.V420A	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	491445	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.171	0.0376530423833	8.6e-05	0.000998403	0.0010	0	0	0.0007	0	0.0010	0.0031	0.0019	0.0005304	82	154602	rs200226242	0.0004	0.0004	0.0004	0.0005	0.0022	0.0004	0.0004	0.0019	0.0018	3.04e-05	0.0002	0	7.83e-05	2.196e-05	0.0014	0.0003	0.0011	0.0022	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	2.412e-05	0	0.0001	0	0.0002	0	0	0.0003	0.0005	0.0037	0.02	0.49613	D	0.05	0.48080	T	.	.	.	.	.	.	0.001375	0.39242	N	0.000000	0.840601	0.40859	D	.	.	.	3.16	0.11082	T	-2.09	0.65858	N	0.338	0.37923	-1.1057	0.03467	T	0.024	0.10013	T	10	0.021895856	0.00534	T	0.037653	0.57750	D	0.171	0.43483	.	.	0.260580752073	0.25663	.	.	.	.	0.823105454445	0.85504	D	0.169836	0.51737	T	-0.438358	0.01322	T	-0.408305	0.32420	T	0.0763345630058551	0.09512	T	0.728227	0.34274	T	0.16489172	0.36727	0.1925641	0.42778	0.15592863	0.35215	0.20120125	0.44088	-8.289	0.63022	D	0.12458666258456502	0.12248	0.317	0.63750	B	.;.;.;.;.	.;.;.;.;.	4.420496	0.68469	25.2	0.97061141808910001	0.32197	0.94377	0.60971	D	AEFDBHCI	0.776753	0.70977	D	0.247701462633987	0.53526	3.520994	0.206530853061734	0.50209	3.215408	0.999999999986826	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.616487	0.41570	0	0.562822	0.20929	0	.	.	4.6	4.6	0.56512	4.032000	0.56985	.	.	0.686000	0.82685	0.952000	0.33172	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	11.934	0.52150	906	0.23090	EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;.;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like 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	0.002753	0.000000	0.002717	0.005319	0.000000	0.008621	0.006250	0.000000	0.08333	1035.83	35	chr6	32096594	.	A	G	1035.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.488;DP=294;ExcessHet=0;FS=0.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=1.17;SOR=0.789	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1046,0,1388	5	0	1	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	815.38	5	chr6	42963889	.	GTTTA	G	815.38	.	AC=6;AF=0.6;AN=10;DP=39;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=60;QD=32.19;SOR=4.514	GT:AD:DP:GQ:PL	1/1:0,6:6:18:270,18,0	2	3	0	1
chr6	107876670	107876670	-	AA	intronic	SEC63	.	.	.	Polycystic liver disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	301016	Polycystic_liver_disease_1|Polycystic_liver_disease_2|not_provided	MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027278	71	26028	rs749125299	0.1375	0.1591	0.1371	0.1380	0.1657	0.1368	0.1364	0.1514	0.1458	0.1372	0.1235	0.1475	0.1060	0.1498	0.1657	0.1397	0.1464	0.1241	0.1681	0.1681	0.1687	0.1674	0.1888	0.1661	0.1653	0.1847	0.1830	0.1888	0.1671	0.1785	0.1605	0.1144	0.1398	0.2468	0.1609	0.1787	0.1661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	300.46	12	chr6	107876670	.	C	CAA	300.46	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.414;DP=131;ExcessHet=3.1439;FS=1.28;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.325;SOR=1.136	GT:AD:DP:GQ:PL	0/1:3,1:4:2:2,0,59	4	0	2	0
chr6	131847856	131847856	-	GT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	306046	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive|not_specified	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099124	258	26028	rs879243445	0.1164	0.1420	0.1109	0.1218	0.2260	0.1159	0.1156	0.2219	0.2202	0.0541	0.1701	0.1677	0.2260	0.1618	0.1174	0.1025	0.1337	0.1540	0.2005	0.2032	0.1967	0.2045	0.3235	0.1985	0.1977	0.3101	0.3047	0.0963	0.1496	0.2623	0.2420	0.3235	0.2116	0.2176	0.2296	0.2147	0.2345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	440.25	11	chr6	131847856	.	G	GGT	440.25	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.139;DP=115;ExcessHet=2.3007;FS=8.694;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0;SOR=2.03	GT:AD:DP:GQ:PL	0/1:7,4:11:71:71,0,166	3	0	3	0
chr6	151615542	151615542	G	A	exonic	CCDC170	.	nonsynonymous SNV	CCDC170:NM_025059:exon10:c.G1810A:p.V604I	.	426	448	452	196	0	844	0.485057	.	.	.	165622	not_specified|Estrogen_resistance_syndrome|CCDC170-related_condition	MedGen:CN169374|MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.3802	0.349441	0.3172	0.5003	0.1910	0.3218	0.1861	0.3212	0.3056	0.3314	0.307053	47471	154602	rs6929137	0.3255	0.3255	0.3250	0.3260	0.4982	0.3247	0.3244	0.4918	0.4892	0.4982	0.2070	0.3629	0.2803	0.1923	0.3932	0.3303	0.3428	0.3334	0.3565	0.3568	0.3642	0.3484	0.4987	0.3540	0.3529	0.4931	0.4907	0.4987	0.2637	0.2723	0.3589	0.3187	0.1773	0.4252	0.3218	0.3667	0.3291	0.356	0.12070	T	0.224	0.25591	T	0.026	0.19406	B	0.015	0.17295	B	0.007735	0.31228	N	0.296403	0.0986944	0.36178	P	1.43	0.35840	L	3.03	0.08898	T	-0.01	0.07155	N	0.018	0.00252	-1.0055	0.28307	T	0.136	0.45241	T	9	0.00022158027	0.00010	T	.	.	.	0.044	0.11924	.	.	.	.	0.072239817166933	0.07160	0.0961944766766	0.10857	0.265175282955	0.05523	T	0.004809	0.04227	T	-0.803418	0.00007	T	-0.78301	0.02364	T	0.00568248394408548	0.00062	T	0.713629	0.32527	T	0.02158561	0.00769	0.03398084	0.02386	0.02158561	0.00769	0.039030753	0.03904	-4.215	0.26968	T	0.6843976527898016	0.76122	0.083	0.09191	B	.	.	1.233171	0.16282	12.44	0.85539978010704987	0.15956	0.53578	0.29406	D	AEFBCI	0.144195	0.26709	N	-0.602800261098824	0.18859	0.9825487	-0.494072335675999	0.22316	1.211517	0.0315713748674104	0.14009	0.516011	0.20929	0	0.573888	0.26702	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	3.37	0.37692	0.969000	0.28967	5.021000	0.46746	-0.113000	0.14837	0.637000	0.28059	1.000000	0.68203	0.773000	0.36634	0.126:0.1149:0.7591:0.0	9.868	0.40328	938	0.14419	.	CCDC170	Brain_Substantia_nigra	.	.	rs6929137	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	0.379536	0.357143	0.388587	0.415205	0.500000	0.396552	0.362805	0.337121	0.5833	12691.9	120	chr6	151615542	.	G	A	12691.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-0.896;DP=553;ExcessHet=0;FS=5.604;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=26.95;ReadPosRankSum=0.417;SOR=0.721	GT:AD:DP:GQ:PL	1/1:0,123:123:99:3986,369,0	2	3	1	0
chr6	160731053	160731053	G	A	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon11:c.G1259A:p.G420D	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	2	1499	20	1	0	22	0.00728477	.	.	.	721862	Plasminogen_deficiency,_type_I|Angioedema,_hereditary,_4|not_provided|not_specified|PLG-related_disorder	MONDO:MONDO:0009009,MedGen:C1968804,OMIM:217090,Orphanet:722|MONDO:MONDO:0025712,MedGen:C5543503,OMIM:619360|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	0.0130933545777	0.0015	0.000798722	0.0019	0.0006	0.0022	0	0.0003	0.0028	0.0022	0.0004	0.0018693	289	154602	rs139071351	0.0024	0.0024	0.0024	0.0023	0.0054	0.0023	0.0023	0.0039	0.0034	0.0006	0.0015	0.0052	0	0.0003	0.0054	0.0026	0.0028	0.0009	0.0018	0.0018	0.0020	0.0016	0.0028	0.0017	0.0016	0.0025	0.0024	0.0006	0	0.0014	0.0055	0	0.0007	0.0068	0.0028	0.0052	0.0006	0.872	0.02594	T	1.0	0.01155	T	0.035	0.20614	B	0.107	0.31211	B	0.178306	0.17173	N	0.410936	1	0.08975	N	0.64	0.16041	N	-0.18	0.65747	T	-0.39	0.13611	N	0.072	0.04547	-0.9163	0.46050	T	0.058	0.24465	T	10	0.01172924	0.00255	T	0.013093	0.32217	T	0.236	0.53931	.	.	0.450733807028	0.44697	0.6920846132018005	0.69148	0.291264107057	0.31533	0.384721755981	0.22923	T	0.08321	0.37003	T	-0.55329	0.00279	T	-0.571217	0.15337	T	0.00293976838002257	0.00031	T	0.727127	0.34152	T	0.17778583	0.38763	0.1150387	0.27769	0.17778583	0.38763	0.1150387	0.27768	-4.054	0.24609	T	0.1016413119542937	0.07635	0.073	0.04477	B	.	.	-0.522332	0.01796	0.139	0.67395102283672681	0.08342	0.02844	0.07597	N	ALL	0.577191	0.57889	D	-1.31449162864766	0.03508	0.1568487	-1.36706235653217	0.03609	0.1686872	0.990549622000207	0.32188	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.11	-2.13	0.06745	0.034000	0.13663	-0.051000	0.12545	-0.378000	0.05405	0.031000	0.20493	0.000000	0.08366	0.308000	0.24690	0.7148:0.0:0.2852:0.0	11.49	0.49623	856	0.34373	Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001521	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.003846	0.08333	556.83	38	chr6	160731053	.	G	A	556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.925;DP=237;ExcessHet=0;FS=4.015;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-1.106;SOR=0.273	GT:AD:DP:GQ:PL	0/1:34,23:57:99:567,0,1029	5	0	1	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q,TBP:NM_003194:exon3:c.G228A:p.Q76Q	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	136006	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.222904	0.295699	0.183924	0.233918	0.250000	0.155172	0.208861	0.189394	0.3	2681.43	64	chr6	170561964	.	G	A	2681.43	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.577;DP=819;ExcessHet=0.1336;FS=3.859;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.92;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,37:79:99:1|0:170561949_GCAA_G:1068,0,1266:170561949	2	0	3	1
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	21537.0	99	chr7	21867834	.	G	GT	21537.0	.	AC=11;AF=0.917;AN=12;BaseQRankSum=-0.5;DP=546;ExcessHet=0;FS=0;MLEAC=11;MLEAF=0.917;MQ=60;MQRankSum=0;QD=36.19;ReadPosRankSum=1.69;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,79:79:99:1|1:21867834_G_GT:3487,238,0:21867834	0	5	1	0
chr7	74053320	74053320	-	TG	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	311577	Cutis_laxa,_autosomal_dominant|Supravalvar_aortic_stenosis|not_provided	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0594	0.0498	0.0290	0.0302	0.0243	0.0603	0.0760	0.0877	0.0354717	5484	154602	rs782441301	0.1125	0.1242	0.1127	0.1123	0.1405	0.1120	0.1119	0.1310	0.1272	0.0989	0.0798	0.1274	0.0588	0.0845	0.1405	0.1174	0.1164	0.1034	0.1344	0.1344	0.1380	0.1307	0.1514	0.1328	0.1322	0.1489	0.1479	0.1220	0.1678	0.1130	0.1702	0.0939	0.1013	0.2057	0.1514	0.1436	0.1330	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10577.4	80	chr7	74053320	.	C	CTG	10577.4	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.23;DP=741;ExcessHet=0.4139;FS=0.879;MLEAC=3;MLEAF=0.25;MQ=59.95;MQRankSum=0;QD=25.37;ReadPosRankSum=0.864;SOR=0.535	GT:AD:DP:GQ:PL	0/1:36,29:72:99:543,0,928	3	0	3	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5153.38	32	chr7	92499847	.	CA	C	5153.38	.	AC=9;AF=0.75;AN=12;BaseQRankSum=2.66;DP=265;ExcessHet=0;FS=2.335;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=1.78;SOR=1.117	GT:AD:DP:GQ:PL	1/1:0,34:34:99:933,102,0	0	3	3	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	9290.48	40	chr7	103989356	.	T	TGCCGCC	9290.48	.	AC=10;AF=0.833;AN=12;BaseQRankSum=2.1;DP=386;ExcessHet=0;FS=7.742;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=30.24;ReadPosRankSum=-2.012;SOR=1.501	GT:AD:DP:GQ:PL	1/1:0,23:23:68:1016,68,0	0	4	2	0
chr7	113878379	113878379	C	A	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.G2713T:p.D905Y	Insulin resistance, severe, digenic, Autosomal dominant	11	895	492	124	0	740	0.29249	.	.	.	23745	Type_2_diabetes_mellitus|not_provided|PPP1R3A-related_disorder|Insulin_resistance,_susceptibility_to	Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|.|MedGen:C1852091	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	.	0.1353	0.308706	0.2191	0.1986	0.2675	0.6952	0.2100	0.1107	0.2252	0.3903	0.206175	31875	154602	rs1799999	0.1416	0.1416	0.1346	0.1487	0.6879	0.1411	0.1409	0.6811	0.6783	0.1968	0.2570	0.2156	0.6879	0.1937	0.1652	0.0908	0.1697	0.3887	0.1744	0.1748	0.1615	0.1879	0.6706	0.1726	0.1719	0.6519	0.6443	0.1934	0.1220	0.2144	0.2066	0.6706	0.2038	0.1429	0.0950	0.1795	0.3984	0.0	0.91255	D	0.014	0.62352	D	0.976	0.58310	D	0.72	0.54860	P	0.024511	0.26249	N	0.367148	0.836062	0.28695	P	1.83	0.48079	L	2.05	0.20664	T	-2.39	0.52612	N	0.15	0.15328	-0.9976	0.30590	T	0.000	0.00011	T	9	8.817586e-06	0.00003	T	.	.	.	0.081	0.23632	.	.	.	.	0.3683814514852102	0.36752	0.306500050531	0.32949	0.278542757034	0.07290	T	0.186598	0.53994	T	-0.528206	0.00393	T	-0.387688	0.34823	T	0.0438705692398417	0.04397	T	0.716128	0.32863	T	0.20416406	0.42517	0.2524535	0.50875	0.20416406	0.42517	0.2524535	0.50874	-4.861	0.35294	T	.	.	0.137	0.29968	B	.	.	3.069077	0.41247	21.3	0.99319784506066688	0.59355	0.95612	0.65420	D	AEFI	0.303249	0.41127	N	0.499889304589376	0.67083	5.034699	0.49068893142535	0.67370	5.075107	0.0140741971558907	0.12550	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.235000	0.51027	3.309000	0.37448	0.580000	0.29708	1.000000	0.71638	0.924000	0.28388	0.195000	0.21750	0.0:0.9117:0.0:0.0883	11.640	0.50488	802	0.44336	.	.	.	.	.	.	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	0.174395	0.136364	0.123641	0.166667	0.250000	0.172414	0.165644	0.295455	0.1667	3128.06	33	chr7	113878379	.	C	A	3128.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.12;DP=389;ExcessHet=0.4139;FS=2.192;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.68;SOR=0.564	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1474,0,1489	4	0	2	0
chr7	116796087	116796087	T	G	exonic	MET	.	nonsynonymous SNV	MET:NM_001324402:exon20:c.T2846G:p.V949G,MET:NM_000245:exon21:c.T4136G:p.V1379G,MET:NM_001127500:exon21:c.T4190G:p.V1397G	Hepatocellular carcinoma, childhood type, somatic;Renal cell carcinoma, papillary, 1, familial and somatic	0	1521	1	0	0	1	0.000328623	.	.	.	1044590	Hereditary_cancer-predisposing_syndrome|not_provided|Renal_cell_carcinoma	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	0.0157620198462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.08787	T	0.435	0.13518	T	0.0	0.02946	B	0.0	0.01387	B	0.210677	0.16373	N	0.669254	0.983433	0.43626	D	0	0.06538	N	-0.78	0.73631	T	-0.49	0.15578	N	0.068	0.12627	-1.0172	0.24625	T	0.177	0.52272	T	10	0.07837874	0.12485	T	0.015762	0.36670	T	0.145	0.38592	0.308	0.27967	0.452476734342	0.44872	0.6178991278886501	0.61722	1.00905915386	0.74685	0.267533689737	0.05821	T	0.293877	0.66657	T	-0.0652781	0.42077	T	-0.331544	0.41297	T	0.0492458529770374	0.05366	T	0.208679	0.02500	T	0.05912511	0.11979	0.0438646	0.05553	0.05912511	0.11979	0.0438646	0.05553	-3.262	0.13252	T	.	.	0.062	0.01328	B	.;.	.;.	0.895990	0.12696	9.219	0.81052768644004425	0.13496	0.78801	0.38934	D	AEFBI	0.283981	0.39696	N	-0.692279811078883	0.16241	0.8256814	-0.567152230387967	0.20352	1.096117	0.994560936662363	0.33696	0.722319	0.85440	0	0.563428	0.19063	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	4.43	1.99	0.25423	0.446000	0.21410	1.716000	0.28228	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.287000	0.24188	0.0:0.1645:0.1524:0.6831	5.216	0.14666	703	0.57489	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1497.83	47	chr7	116796087	.	T	G	1497.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.45;DP=322;ExcessHet=0;FS=3.455;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.38;SOR=1.056	GT:AD:DP:GQ:PL	0/1:57,56:113:99:1508,0,1471	5	0	1	0
chr7	117602811	117602811	C	G	intronic	CFTR	.	.	.	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	1	1478	43	0	0	43	0.0143381	.	.	.	44508	not_specified|not_provided|CFTR-related_disorder|Cystic_fibrosis|Hereditary_pancreatitis	MedGen:CN169374|MedGen:C3661900|MedGen:C5924204|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0023	0.00139776	0.0026	0.0002	0.0020	0	0	0.0038	0.0077	0.0015	0.0022833	353	154602	rs139379077	0.0019	0.0019	0.0017	0.0021	0.0331	0.0018	0.0018	0.0293	0.0278	0.0009	0.0030	0.0217	2.52e-05	0	0.0331	0.0013	0.0044	0.0016	0.0022	0.0022	0.0020	0.0024	0.0048	0.0020	0.0019	0.0040	0.0036	0.0002	0	0.0048	0.0248	0	0	0.0238	0.0020	0.0071	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	560.83	34	chr7	117602811	.	C	G	560.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.735;DP=253;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=-0.46;SOR=0.849	GT:AD:DP:GQ:PL	0/1:47,28:75:99:571,0,1323	5	0	1	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.8333	15597.2	111	chr7	127611134	.	T	G	15597.2	.	AC=10;AF=0.833;AN=12;BaseQRankSum=1.54;DP=597;ExcessHet=0.4139;FS=0.71;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=26.57;ReadPosRankSum=1.9;SOR=0.703	GT:AD:DP:GQ:PL	0/1:44,28:72:99:708,0,1259	0	4	2	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1057.55	82	chr7	131505863	.	C	T	1057.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.176;DP=397;ExcessHet=11.5949;FS=460.771;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=1.72;SOR=9.869	GT:AD:DP:GQ:PL	0/1:32,19:51:99:151,0,743	0	0	6	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	Hereditary_pancreatitis|not_provided	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.221	.	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs747228052	0.0163	0.0916	0.0159	0.0166	0.0302	0.0161	0.0160	0.0284	0.0277	0.0302	0.0266	0.0367	0.0149	0.0869	0.0146	0.0136	0.0244	0.0024	0.3494	0.3861	0.3542	0.3444	0.4130	0.3464	0.3452	0.4068	0.4042	0.4130	0.3354	0.3561	0.3511	0.1063	0.3526	0.2554	0.3440	0.3432	0.1690	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.089679	0.20415	N	0.498441	0.999154	0.21565	N	-0.055	0.04927	N	-3.18	0.93111	D	1.4	0.00835	N	0.1	0.09631	-0.6563	0.62439	T	0.520	0.82091	D	10	0.09526378	0.17002	T	0.081841	0.73770	D	0.221	0.51721	.	.	0.74833783201	0.74606	0.6303402522407332	0.62968	0.16419798022	0.18528	0.351473480463	0.18139	T	0.18894	0.54300	T	-0.0866624	0.38626	T	-0.362261	0.37790	T	0.0625269785523415	0.07561	T	.	.	.	0.03509291	0.04065	0.09660669	0.22962	0.03509291	0.04065	0.09660669	0.22961	-3.639	0.18422	T	.	.	0.061	0.01042	B	.;.;.	.;.;.	0.943023	0.13190	9.689	0.10035292204727132	0.00117	0.01979	0.05984	N	AEFDBI	0.044097	0.07052	N	-0.973998565507978	0.09162	0.4324695	-0.844955323986839	0.13408	0.6954354	0.00552028722970171	0.10963	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.32	2.43	0.28797	2.003000	0.40464	.	.	-0.319000	0.05888	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.1794:0.8206:0.0	11.878	0.51835	776	0.48302	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1715.03	252	chr7	142749524	.	C	G	1715.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=6.15;DP=843;ExcessHet=1.383;FS=18.942;MLEAC=3;MLEAF=0.25;MQ=57.86;MQRankSum=-15.72;QD=2.36;ReadPosRankSum=-1.757;SOR=2.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,36:250:99:0|1:142749506_A_G:847,0,8877:142749506	3	0	3	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	788	734	0	0	734	0.317749	.	.	YES	46925	not_provided|Recurrent_pancreatitis|Hereditary_pancreatitis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	0.009060	0.025974	0.000000	0.004274	0.062500	0.000000	0.031915	0.008000	0.3333	4636.96	129	chr7	142750561	.	C	T	4636.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.105;DP=556;ExcessHet=3.1439;FS=2.758;MLEAC=4;MLEAF=0.333;MQ=56.46;MQRankSum=-8.879;QD=9.66;ReadPosRankSum=0.27;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,36:120:99:.:.:1097,0,2451:.	2	0	4	0
chr7	142750675	142750675	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.A161G:p.N54S	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1165	357	0	0	357	0.132862	.	.	.	26920	not_specified|Hereditary_pancreatitis	MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	.	.	0.0354	0.0748	0.0127	0.0043	0.0416	0.0323	0.0528	0.0537	0.0003842	10	26028	rs144422014	0.0485	0.1673	0.0431	0.0541	0.1643	0.0482	0.0480	0.1599	0.1580	0.1117	0.1643	0.1341	0.0273	0.2064	0.0482	0.0386	0.0676	0.0350	0.2790	0.3612	0.2847	0.2732	0.3794	0.2760	0.2748	0.3726	0.3698	0.3794	0.2481	0.2697	0.2695	0.0620	0.2849	0.1951	0.2592	0.2679	0.0988	0.448	0.09075	T	0.623	0.13912	T	0.0	0.02946	B	0.001	0.04355	B	0.001478	0.38917	N	0.304664	6.371e-07	0.08975	A	-0.23	0.03940	N	-2.87	0.91478	D	-1.05	0.28290	N	0.04	0.03726	-0.6892	0.60945	T	0.247	0.61600	T	9	0.0784502	0.12504	T	.	.	.	0.355	0.67600	.	.	.	.	0.5012227439210316	0.50044	0.128612980855	0.14499	0.257050007582	0.04546	T	0.49228	0.81630	T	-0.0785813	0.39944	T	-0.350653	0.39129	T	0.0736112371087074	0.09149	T	.	.	.	0.2644275	0.49510	0.109853335	0.26482	0.094889425	0.22319	0.06812106	0.14182	-6.432	0.49759	T	.	.	0.070	0.03698	B	.;.;.;.	.;.;.;.	-2.080381	0.00084	0.001	0.26841523162452846	0.01304	0.01504	0.04979	N	AEFDBI	0.151876	0.27644	N	-1.8369064160701	0.00461	0.0198398	-1.85065327251252	0.00610	0.02711572	0.9475443675706	0.27758	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	-6.32	0.01820	-1.848000	0.01766	.	.	-3.345000	0.00094	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4768:0.1255:0.3977:0.0	6.959	0.23768	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.012835	0.027778	0.002740	0.013043	0.222222	0.000000	0.014184	0.021186	0.3333	2310.96	125	chr7	142750675	.	A	G	2310.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.872;DP=543;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=57.89;MQRankSum=-9.095;QD=4.89;ReadPosRankSum=-1.305;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,18:96:99:.:.:515,0,3172:.	2	0	4	0
chr7	142750680	142750680	C	T	exonic	PRSS1	.	stopgain	PRSS1:NM_002769:exon2:c.C166T:p.Q56X	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1242	280	0	0	280	0.101302	.	.	.	933720	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0318	0.0685	0.0106	0.0041	0.0339	0.0291	0.0474	0.0480	0.0003074	8	26028	rs147366981	0.0267	0.1326	0.0229	0.0307	0.0653	0.0265	0.0263	0.0624	0.0612	0.0570	0.0653	0.0663	0.0176	0.1422	0.0264	0.0220	0.0394	0.0170	0.2451	0.3472	0.2492	0.2408	0.3469	0.2422	0.2410	0.3402	0.3375	0.3469	0.2122	0.2373	0.2308	0.0477	0.2609	0.1513	0.2221	0.2305	0.0781	.	.	.	.	.	.	.	.	.	.	.	.	0.016899	0.27861	N	0.410325	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.711	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416393	0.90831	D	0.360343	0.90716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	4.129577	0.61790	24.4	0.99516745074967428	0.68979	0.11811	0.16877	N	AEFDBI	0.295314	0.40546	N	0.145216833814894	0.48585	3.069039	-0.169272407184608	0.32673	1.861256	0.255023528038656	0.18723	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	2.59	0.30091	0.110000	0.15273	.	.	-2.564000	0.00244	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.8252:0.1747:0.0	12.188	0.53561	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1991.96	121	chr7	142750680	.	C	T	1991.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.746;DP=527;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=58.04;MQRankSum=-9.203;QD=4.38;ReadPosRankSum=-1.361;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,15:94:99:.:.:398,0,3188:.	2	0	4	0
chr7	142750715	142750715	G	A	splicing	PRSS1	NM_002769:exon2:c.200+1G>A	.	.	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1452	70	0	0	70	0.0235373	1.0000	0.848	.	389795	Hereditary_pancreatitis|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0168	0.0324	0.0042	0.0020	0.0238	0.0143	0.0236	0.0308	4.53e-05	7	154602	rs143909348	0.0011	0.0454	0.0008	0.0014	0.0019	0.0010	0.0010	0.0015	0.0014	0.0019	0.0005	0.0008	0.0006	0.0019	0.0014	0.0011	0.0015	2.527e-05	0.0248	0.1744	0.0235	0.0261	0.0474	0.0239	0.0236	0.0450	0.0440	0.0474	0.0224	0.0233	0.0141	0.0027	0.0353	0.0055	0.0170	0.0232	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203112	0.74183	D	0.05398	0.73846	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.670096	0.92930	33	0.99152217748706628	0.53848	0.96810	0.71061	D	AEFDBI	.	.	.	0.873327191576921	0.90394	10.38377	0.628514251622925	0.77020	6.599509	0.999995312873056	0.74766	0.087844	0.02253	0	0.085267	0.02369	0	0.106748	0.03127	0	0.075334	0.01956	0	0.824128	0.49265	3.49	3.49	0.39065	9.545000	0.97193	.	.	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	14.397	0.66584	776	0.48302	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	506.0	81	chr7	142750715	.	G	A	506.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.4;DP=398;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=58.33;MQRankSum=-8.567;QD=2.29;ReadPosRankSum=-1.884;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,6:65:18:.:.:18,0,1763:.	3	0	3	0
chr7	142751871	142751871	G	A	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon3:c.G298A:p.D100N	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1214	308	0	0	308	0.112573	.	.	.	1856639	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0428779939056	.	.	9.889e-05	9.625e-05	0	0.0001	0	0.0001	0	0	3.84e-05	1	26028	rs199507985	0.0051	0.1108	0.0042	0.0059	0.0058	0.0049	0.0049	0.0049	0.0048	0.0056	0.0014	0.0020	0.0003	0.0259	0.0058	0.0050	0.0037	0.0004	0.0108	0.0956	0.0113	0.0103	0.0183	0.0103	0.0101	0.0169	0.0163	0.0183	0.0092	0.0097	0.0055	0.0016	0.0118	0.0052	0.0086	0.0199	0.0039	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.033468	0.24894	N	0.524529	1	0.08975	N	-0.69	0.01958	N	-3.0	0.92158	D	1.9	0.00629	N	0.239	0.29429	-0.6747	0.61616	T	0.367	0.72727	T	10	0.023464203	0.00615	T	0.042878	0.60692	D	0.229	0.52916	0.66	0.79791	0.581723300495	0.57844	0.32847795118294976	0.32760	0.158480649337	0.17896	0.271346330643	0.06317	T	0.315631	0.68723	T	-0.016682	0.49325	T	-0.261739	0.48651	T	0.0383265241498447	0.03389	T	.	.	.	0.11146873	0.26341	0.07788485	0.17394	0.11146873	0.26341	0.07788485	0.17393	-3.152	0.11903	T	.	.	0.130	0.27968	B	.;.;.;.	.;.;.;.	0.306948	0.06821	3.348	0.23833427681071562	0.01026	0.02802	0.07524	N	AEFDBI	0.128302	0.24603	N	-1.45322892256066	0.02191	0.09649168	-1.40637236865901	0.03188	0.14819	0.00205546323774988	0.09120	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	0.447	0.15819	1.399000	0.34175	.	.	-0.330000	0.05784	0.098000	0.22752	0.000000	0.08366	0.001000	0.02609	0.787:0.0:0.213:0.0	7.122	0.24626	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.030303	0.002717	0.005848	0.050000	0.025862	0.003049	0.003788	0.1667	480.06	174	chr7	142751871	.	G	A	480.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.4;DP=579;ExcessHet=0.4139;FS=4.902;MLEAC=2;MLEAF=0.167;MQ=58.78;MQRankSum=-12.73;QD=1.14;ReadPosRankSum=-0.042;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,21:248:99:0|1:142751865_C_A:163,0,9408:142751865	4	0	2	0
chr7	142752476	142752476	G	C	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.G500C:p.S167T	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	495	1027	0	0	1027	0.509172	.	.	.	1044764	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0561978714716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232891794	0.2545	0.3268	0.2490	0.2598	0.3691	0.2536	0.2533	0.3636	0.3614	0.2301	0.3691	0.3339	0.1146	0.3574	0.2639	0.2514	0.2503	0.2264	0.4061	0.4174	0.4095	0.4025	0.4695	0.4032	0.4020	0.4636	0.4612	0.4695	0.3848	0.4099	0.4028	0.1747	0.4131	0.3359	0.3953	0.3970	0.2476	0.157	0.23997	T	0.098	0.39040	T	0.0	0.07471	B	0.01	0.14941	B	0.083030	0.20775	N	0.574518	1	0.08975	N	1.445	0.36358	L	-3.32	0.93882	D	-2.14	0.48523	N	0.225	0.25622	-0.1577	0.78727	T	0.698	0.89598	D	10	0.23140222	0.40113	T	0.056198	0.66515	D	0.289	0.60808	0.642	0.77903	0.527610103971	0.52408	0.7123115361635766	0.71173	0.155586269279	0.17559	0.440457701683	0.30639	T	0.578285	0.86150	D	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.0861879674086316	0.10760	T	.	.	.	0.1717769	0.37831	0.16736849	0.38616	0.1717769	0.37831	0.16736849	0.38615	-3.967	0.23308	T	.	.	0.124	0.29172	B	.;.;.;.	.;.;.;.	-0.119171	0.03530	0.672	0.49745973133581234	0.04263	0.00742	0.03097	N	AEFBI	0.279347	0.39342	N	-1.33556641628984	0.03277	0.1461073	-1.43646429030785	0.02895	0.1340265	4.17954976400154E-4	0.06899	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-1.85	0.07363	0.606000	0.23891	.	.	-1.515000	0.01011	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6816:0.3184:0.0	15.926	0.79405	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10688.0	216	chr7	142752476	.	G	C	10688.0	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.61;DP=956;ExcessHet=3.1439;FS=5.193;MLEAC=4;MLEAF=0.333;MQ=57.49;MQRankSum=-9.471;QD=12.47;ReadPosRankSum=1.09;SOR=0.736	GT:AD:DP:GQ:PL	0/1:142,89:231:99:3068,0,3959	2	0	4	0
chr7	146116828	146116828	T	G	intergenic	TPK1;CNTNAP2	dist=1280775;dist=657443	.	.	.	6	1442	70	4	0	78	0.0263336	.	.	.	140540	Pitt-Hopkins-like_syndrome|Cortical_dysplasia-focal_epilepsy_syndrome|not_specified	MONDO:MONDO:0016377,MedGen:C4751168|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0135	0	0.0055	0	0	0.0080	0.0154	0.0181	0.0016494	255	154602	rs549396215	0.0021	0.0020	0.0016	0.0026	0.0169	0.0020	0.0020	0.0161	0.0158	0.0004	0.0018	0.0129	2.862e-05	9.778e-05	0.0165	0.0007	0.0038	0.0169	0.0018	0.0018	0.0015	0.0022	0.0178	0.0016	0.0016	0.0148	0.0136	0.0002	0	0.0031	0.0150	0	0	0.0136	0.0011	0.0033	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1265.06	38	chr7	146116828	.	T	G	1265.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.237;DP=252;ExcessHet=0.4139;FS=6.614;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.172;SOR=1.324	GT:AD:DP:GQ:PL	0/1:17,17:34:99:468,0,529	4	0	2	0
chr7	150974946	150974946	G	C	intronic	KCNH2	.	.	.	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	0	1506	15	1	0	17	0.00561241	0.0007	0.126	.	302194	Cardiovascular_phenotype|not_specified|KCNH2-related_disorder|not_provided|Cardiac_arrhythmia|Long_QT_syndrome|Long_QT_syndrome_2	MedGen:CN230736|MedGen:CN169374|.|MedGen:C3661900|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0002	0.0005	0	0.0004	0.0003	0	0.0012	0.0002393	37	154602	rs72549419	0.0004	0.0004	0.0003	0.0004	0.0030	0.0003	0.0003	0.0019	0.0016	9.103e-05	0.0006	0	7.731e-05	0.0002	0.0030	0.0003	0.0004	0.0014	0.0002	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	4.81e-05	0	6.533e-05	0	0	0.0003	0.0034	0.0003	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	443.83	35	chr7	150974946	.	G	C	443.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.422;DP=207;ExcessHet=0;FS=3.426;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.03;SOR=1.638	GT:AD:DP:GQ:PL	0/1:16,19:35:99:454,0,392	5	0	1	0
chr8	6445112	6445112	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1246A:p.V416I,MCPH1:NM_001172574:exon8:c.G1390A:p.V464I,MCPH1:NM_001322042:exon8:c.G1390A:p.V464I,MCPH1:NM_001322043:exon8:c.G1384A:p.V462I,MCPH1:NM_001322045:exon8:c.G1288A:p.V430I,MCPH1:NM_001363979:exon8:c.G1390A:p.V464I,MCPH1:NM_001363980:exon8:c.G1390A:p.V464I,MCPH1:NM_024596:exon8:c.G1390A:p.V464I	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	899936	Microcephaly_1,_primary,_autosomal_recessive|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.006	0.00274249407825	.	0.00159744	0.0004	0	8.645e-05	0.0002	0	0	0.0022	0.0024	0.0003428	53	154602	rs531526435	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0023	0.0021	5.974e-05	0	0	0.0002	0	0.0003	1.349e-05	0.0002	0.0025	0.0001	0.0001	0.0001	0.0001	0.0027	6.509e-05	5.321e-05	0.0016	0.0013	4.812e-05	0	6.537e-05	0	0	0	0	0	0	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.823533	0.09160	N	0.922363	1	0.08975	N	0.57	0.15267	N	3.19	0.07353	T	0.27	0.04306	N	0.043	0.01658	-0.9228	0.45168	T	0.008	0.02926	T	10	0.0034584403	0.00061	T	0.002742	0.05665	T	0.006	0.00375	0.143	0.04650	0.255777322467	0.25185	0.04598565669642853	0.04542	.	.	0.235667839646	0.02414	T	0.05405	0.29613	T	-0.746068	0.00019	T	-0.850309	0.00955	T	0.0100663501184015	0.00135	T	.	.	.	0.017316908	0.00263	0.017646225	0.00036	0.017316908	0.00263	0.017646225	0.00036	-3.513	0.16614	T	.	.	0.071	0.04847	B	.;.;.	.;.;.	-0.758350	0.01191	0.058	0.25403568315035979	0.01169	0.00324	0.01698	N	AEFBI	0.011558	0.00105	N	-1.64797043777782	0.01044	0.04526822	-1.64718870794519	0.01390	0.06282937	0.978832305703481	0.29963	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-4.88	0.02884	-0.942000	0.04031	-0.202000	0.10935	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2088:0.5175:0.1571:0.1166	4.098	0.09475	975	0.05339	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1500.83	38	chr8	6445112	.	G	A	1500.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.092;DP=304;ExcessHet=0;FS=2.38;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.639;SOR=0.501	GT:AD:DP:GQ:PL	0/1:54,60:114:99:1511,0,1320	5	0	1	0
chr8	10610127	10610127	T	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A3971G:p.E1324G	Occult macular dystrophy, Autosomal dominant	2	62	35	14	113	176	0.336898	.	.	.	312269	Retinitis_pigmentosa_88|Occult_macular_dystrophy|not_specified|not_provided	MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs4240659	0.1222	0.1328	0.1202	0.1242	0.3291	0.1216	0.1214	0.3238	0.3216	0.1195	0.1370	0.1586	0.3291	0.0992	0.1560	0.1126	0.1374	0.1283	0.1626	0.1710	0.1669	0.1580	0.3056	0.1607	0.1599	0.2926	0.2873	0.1751	0.1340	0.1808	0.1843	0.3056	0.0901	0.2045	0.1541	0.1677	0.1281	0.127	0.27080	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0.55	0.14455	N	2.94	0.09728	T	-1.26	0.31778	N	0.059	0.03069	-0.9596	0.39255	T	0.013	0.05081	T	8	0.0013740659	0.00015	T	.	.	.	0.034	0.08419	.	.	0.0551355673512	0.04727	0.09043956122950329	0.08976	.	.	0.193922996521	0.00302	T	0.036747	0.24220	T	-0.429672	0.01489	T	-0.85497	0.00899	T	0.0430045104408474	0.04238	T	0.292471	0.05369	T	0.03615358	0.04393	0.05939324	0.11139	0.03615358	0.04393	0.05939324	0.11139	-7.353	0.56572	T	.	.	0.069	0.03093	B	.	.	-0.075415	0.03791	0.799	0.55067947662932093	0.05266	0.02637	0.07234	N	AEFDBI	0.022755	0.01177	N	-1.76511400421318	0.00636	0.02744097	-1.81737224775769	0.00705	0.03140268	1.68491044415924E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.91	-1.85	0.07363	-0.294000	0.08346	-1.859000	0.04598	-2.048000	0.00420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1404:0.0:0.8596	7.767	0.28151	794	0.45591	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.274421	0.257576	0.265668	0.260234	0.300000	0.301724	0.323171	0.242424	0.25	31653.5	162	chr8	10610127	.	T	C	31653.5	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.793;DP=1372;ExcessHet=0.095;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.72;MQRankSum=-0.094;QD=34.87;ReadPosRankSum=0.687;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,125:260:99:1|0:10610079_T_C:4813,0,5189:10610079	3	0	3	0
chr8	142875830	142875830	T	C	exonic	CYP11B1	.	nonsynonymous SNV	CYP11B1:NM_000497:exon6:c.A1003G:p.N335D,CYP11B1:NM_001026213:exon6:c.A1003G:p.N335D	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, Autosomal recessive;Aldosteronism, glucocorticoid-remediable, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	44641	not_specified|not_provided|Congenital_adrenal_hyperplasia|Glucocorticoid-remediable_aldosteronism|Deficiency_of_steroid_11-beta-monooxygenase	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.0026	0.00279553	0.0012	0.0115	0.0006	0.0002	0	0.0001	0.0011	0.0004	0.0011061	171	154602	rs61752766	0.0003	0.0004	0.0003	0.0002	0.0080	0.0002	0.0002	0.0072	0.0069	0.0080	0.0004	0	0.0001	1.873e-05	0	4.946e-05	0.0005	0.0002	0.0023	0.0024	0.0023	0.0022	0.0076	0.0021	0.0020	0.0070	0.0067	0.0076	0	0.0016	0	0.0002	0.0002	0	2.942e-05	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.116882	0.02690	N	1.897250	1	0.08975	N	-1.655	0.00384	N	-0.08	0.63911	T	1.4	0.00936	N	0.093	0.07262	-1.0021	0.29313	T	0.045	0.19437	T	10	0.012870431	0.00275	T	.	.	.	0.017	0.02790	.	.	0.480274617672	0.47656	0.6461935221990315	0.64554	0.0960441938547	0.10841	0.632202386856	0.57457	T	0.099966	0.40529	T	-0.642146	0.00081	T	-0.689625	0.06410	T	0.00139546130952381	0.00014	T	0.00360873	0.00039	T	0.11409973	0.26940	0.07639056	0.16913	0.1003987	0.23705	0.11643791	0.28108	0.161	0.00831	T	.	.	0.048	0.01428	B	.;.;.	.;.;.	-1.335472	0.00409	0.008	0.46723027083485563	0.03764	0.00113	0.00716	N	AEFDGBI	0.024334	0.01490	N	-1.80989377264299	0.00521	0.02244069	-1.74573194822372	0.00949	0.04250722	3.96880493378859E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	4.42	-0.977	0.09757	-1.543000	0.02298	-3.832000	0.02508	-4.761000	0.00021	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2528:0.497:0.0:0.2502	4.823	0.12766	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	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1571.83	36	chr8	142875830	.	T	C	1571.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.224;DP=347;ExcessHet=0;FS=4.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.938;SOR=1.059	GT:AD:DP:GQ:PL	0/1:77,63:140:99:1582,0,2030	5	0	1	0
chr8	142914761	142914761	A	G	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon4:c.T743C:p.I248T	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	711339	not_provided|Corticosterone_methyloxidase_type_2_deficiency|Corticosterone_18-monooxygenase_deficiency|Glucocorticoid-remediable_aldosteronism|Corticosterone_methyl_oxidase_type_II_deficiency	MedGen:C3661900|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.0491592199511	.	.	0.0004	0.0006	9.283e-05	0	0.0011	0.0005	0.0012	0	0.0016136	42	26028	rs4547	0.0009	0.0020	0.0010	0.0009	0.0086	0.0009	0.0009	0.0078	0.0075	0.0086	0.0019	0	7.557e-05	0.0012	0.0009	0.0007	0.0022	8.126e-05	0.0057	0.0069	0.0059	0.0055	0.0149	0.0054	0.0053	0.0139	0.0135	0.0149	0.0033	0.0042	0	0.0004	0.0014	0.0068	0.0025	0.0033	0.0002	0.556	0.06461	T	0.091	0.40110	T	0.0	0.02946	B	0.005	0.11217	B	0.756477	0.06515	N	1.139050	1	0.08975	N	-0.695	0.01866	N	-0.38	0.69027	T	0.74	0.02038	N	0.051	0.02272	-1.0278	0.21168	T	0.104	0.38144	T	10	0.0040483177	0.00079	T	0.049159	0.63689	D	0.032	0.07718	.	.	0.27132560031	0.26736	0.20737873784778507	0.20653	0.286842265143	0.31076	0.317195743322	0.12996	T	0.114507	0.43238	T	-0.592472	0.00162	T	-0.619816	0.11199	T	0.00299051845383322	0.00031	T	0.0984901	0.00732	T	0.19973059	0.41923	0.08223399	0.18752	0.19973059	0.41923	0.08223399	0.18752	-3.284	0.13532	T	.	.	0.073	0.04477	B	.	.	0.442760	0.08128	4.859	0.73437403192244166	0.10328	0.01019	0.03833	N	AEFDGBI	0.028360	0.02483	N	-1.33586310131483	0.03274	0.1459594	-1.30383715217491	0.04381	0.2064848	4.74470483388935E-4	0.07095	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.69	0.07747	0.144000	0.15956	0.072000	0.14274	-0.129000	0.13216	0.000000	0.06391	0.000000	0.08366	0.755000	0.35964	0.5414:0.0:0.4586:0.0	8.683	0.33380	983	0.02875	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	160.83	75	chr8	142914761	.	A	G	160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.36;DP=337;ExcessHet=0;FS=4.786;MLEAC=1;MLEAF=0.083;MQ=47.56;MQRankSum=-4.293;QD=1.99;ReadPosRankSum=-1.269;SOR=1.163	GT:AD:DP:GQ:PL	0/1:70,11:81:99:171,0,1978	5	0	1	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	.	274730	not_provided|Congenital_cerebellar_hypoplasia|not_specified	MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:CN169374	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	4643.59	42	chr9	2622146	.	ACGGCGGCGG	A	4643.59	.	AC=7;AF=0.583;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;QD=28.48;SOR=0.869	GT:AD:DP:GQ:PL	1/0:0,16:27:99:1129,461,456	1	2	3	0
chr9	2622146	2622146	-	CGG	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	272060	not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|Congenital_cerebellar_hypoplasia|not_provided	MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1638	.	0.3376	0.1818	0.25	0.0139	0.125	0.3308	0.2105	0.3583	0.0206983	3200	154602	rs555425887	0.2927	0.2905	0.2899	0.2955	0.3418	0.2919	0.2915	0.3381	0.3365	0.0877	0.2478	0.3286	0.0443	0.3460	0.2522	0.3019	0.2795	0.3418	0.2545	0.2556	0.2528	0.2563	0.3664	0.2523	0.2515	0.3521	0.3463	0.0964	0.5619	0.2423	0.3682	0.0533	0.3910	0.2345	0.3296	0.2564	0.3664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4643.59	42	chr9	2622146	.	A	ACGG	4643.59	.	AC=3;AF=0.25;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=28.48;SOR=0.869	GT:AD:DP:GQ:PL	0/1:0,11:27:99:1129,669,636	3	0	3	0
chr9	34646576	34646579	CAGT	-	upstream	GALT	dist=10	.	.	Galactosemia, Autosomal recessive	25	1347	134	16	0	166	0.058042	.	.	.	36445	Classical_galactosemia,_homozygous_Duarte-type|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Galactosemia|not_specified|Inborn_genetic_diseases|not_provided	MedGen:C0268152|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	.	0.0417332	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs111033640	0.0603	0.0594	0.0596	0.0610	0.0758	0.0599	0.0598	0.0742	0.0735	0.0111	0.0491	0.0510	0.0064	0.0679	0.0472	0.0636	0.0570	0.0758	0.0470	0.0471	0.0472	0.0468	0.0689	0.0461	0.0458	0.0629	0.0622	0.0124	0.1615	0.0491	0.0481	0.0093	0.0672	0.0408	0.0645	0.0445	0.0689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	790.03	24	chr9	34646575	.	CCAGT	C	790.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.5;DP=129;ExcessHet=0.4139;FS=4.26;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=24.69;ReadPosRankSum=1.14;SOR=2.584	GT:AD:DP:GQ:PL	0/1:3,9:12:99:369,0,99	4	0	2	0
chr9	34649445	34649445	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.A613G:p.N205D,GALT:NM_000155:exon10:c.A940G:p.N314D	Galactosemia, Autosomal recessive	0	1107	372	43	0	458	0.171407	.	.	YES	18652	GALT_POLYMORPHISM_(DUARTE,_D2)|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Galactosemia|not_provided|GALT-related_disorder	.|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.382	.	0.0715	0.0728834	0.0920	0.0237	0.0572	0.0076	0.1131	0.0945	0.1289	0.1832	0.0897013	13868	154602	rs2070074	0.0956	0.0956	0.0927	0.0986	0.1801	0.0952	0.0950	0.1777	0.1767	0.0230	0.0656	0.1134	0.0067	0.1077	0.1130	0.0945	0.0966	0.1801	0.0748	0.0749	0.0737	0.0760	0.1732	0.0737	0.0732	0.1634	0.1595	0.0239	0.2264	0.0709	0.1086	0.0108	0.1101	0.0850	0.0952	0.0794	0.1732	1.0	0.00964	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.023682	0.26395	N	0.363282	1	0.08975	N	-1.335	0.00675	N	-5.41	0.99076	D	0.69	0.02558	N	0.104	0.08786	-0.3448	0.73705	T	0.089	0.34216	T	10	0.0015891492	0.00018	T	.	.	.	0.382	0.69946	.	.	.	.	0.6107519334601241	0.61007	0.0529846633455	0.05838	0.494998365641	0.38132	T	0.531105	0.83775	D	-0.320467	0.06859	T	-0.0892856	0.64216	T	0.0011724377910854	0.00011	T	0.607439	0.22904	T	0.115712315	0.27301	0.081687234	0.18585	0.12176597	0.28627	0.085849494	0.19850	-2.233	0.04204	T	0.05973314454148825	0.01594	0.066	0.02313	B	.;.	.;.	2.301558	0.29454	18.13	0.77100449014328254	0.11737	0.33342	0.24805	N	AEFBI	0.235241	0.35787	N	-0.807690574731224	0.13113	0.6437672	-0.543084349204827	0.20989	1.133386	0.999962452380944	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.4	0.52402	1.735000	0.37800	6.631000	0.56152	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.3139:0.0:0.6861:0.0	7.829	0.28496	327	0.86637	.;Galactose-1-phosphate uridyl transferase, C-terminal	GALT|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|GALT|IL11RA|IL11RA|CNTFR-AS1|IL11RA|GALT|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|RP11-195F19.9|RPP25L|GALT|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|TRBV26OR9-2|RP11-384P7.7|RPP25L|IL11RA|RP11-195F19.9|GALT|IL11RA|GALT|IL11RA|IL11RA|RPP25L|IL11RA|RP11-195F19.9|CNTFR-AS1|GALT|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RPP25L|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	GALT|GALT|GALT|GALT|GALT|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|GALT|GALT|GALT|GALT|GALT|CCL27|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Uterus|Vagina|Whole_Blood	rs2070074	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.120342	0.055556	0.092391	0.134503	0.100000	0.129310	0.131098	0.200758	0.25	2173.03	36	chr9	34649445	.	A	G	2173.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.255;DP=297;ExcessHet=1.383;FS=1.131;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.164;SOR=0.61	GT:AD:DP:GQ:PL	0/1:35,19:54:99:475,0,1007	3	0	3	0
chr9	94603260	94603260	A	C	UTR3	FBP1	NM_001127628:c.*121T>G;NM_000507:c.*121T>G	.	.	Fructose-1,6-bisphosphatase deficiency, Autosomal recessive	45	1400	68	9	0	86	0.029799	.	.	.	902515	not_provided|Fructose-biphosphatase_deficiency	MedGen:C3661900|MONDO:MONDO:0009251,MedGen:C0016756,OMIM:229700,Orphanet:348	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0141773	.	.	.	.	.	.	.	.	0.0025549	395	154602	rs2274689	0.0181	0.0162	0.0173	0.0189	0.0391	0.0179	0.0177	0.0373	0.0366	0.0036	0.0110	0.0614	0.0391	0.0055	0.0219	0.0156	0.0189	0.0275	0.0132	0.0132	0.0130	0.0134	0.0296	0.0127	0.0125	0.0257	0.0242	0.0034	0.0055	0.0114	0.0729	0.0189	0.0066	0.0238	0.0158	0.0185	0.0296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	140.83	24	chr9	94603260	.	A	C	140.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.695;DP=100;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-1.287;SOR=0.26	GT:AD:DP:GQ:PL	0/1:10,5:15:99:151,0,318	5	0	1	0
chr9	114505005	114505005	G	C	UTR5	WHRN	NM_001173425:c.-204C>G;NM_015404:c.-204C>G	.	.	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	344	1177	1	0	0	1	0.000424628	.	.	.	900911	not_provided|Usher_syndrome_type_2D|Autosomal_recessive_nonsyndromic_hearing_loss_31	MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0251597	.	.	.	.	.	.	.	.	0.0075688	197	26028	rs145985595	0.0022	0.0016	0.0024	0.0020	0.0789	0.0021	0.0020	0.0746	0.0730	0.0789	0.0064	0	0	0	0.0041	0.0001	0.0060	0.0001	0.0231	0.0232	0.0236	0.0227	0.0809	0.0225	0.0222	0.0786	0.0777	0.0809	0	0.0076	0	0	0	0.0068	0.0002	0.0147	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	150.87	6	chr9	114505005	.	G	C	150.87	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.465;DP=24;ExcessHet=0;FS=5.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0.792;SOR=2.225	GT:AD:DP:GQ:PL	0/1:1,6:7:20:160,0,20	5	0	1	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.75	8776.7	74	chr9	133569476	.	A	G	8776.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.783;DP=442;ExcessHet=1.383;FS=0.57;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.77;SOR=0.785	GT:AD:DP:GQ:PL	0/1:41,26:67:99:669,0,1047	0	3	3	0
chr9	133570351	133570351	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon17:c.C2436T:p.R812R,ADAMTSL2:NM_014694:exon17:c.C2436T:p.R812R	Geleophysic dysplasia 1, Autosomal recessive	3	1357	159	3	0	165	0.0573116	.	.	.	317129	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064423	996	154602	rs61733946	0.1006	0.0983	0.1027	0.0984	0.1183	0.1001	0.0999	0.1177	0.1175	0.0162	0.0540	0.0723	0.0004	0.0362	0.0778	0.1183	0.0881	0.0160	0.0710	0.0710	0.0762	0.0655	0.1170	0.0699	0.0694	0.1149	0.1140	0.0223	0.0286	0.0685	0.0669	0.0008	0.0318	0.0952	0.1170	0.0776	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	986.06	30	chr9	133570351	.	C	T	986.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.041;DP=228;ExcessHet=0.4139;FS=4.213;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.22;SOR=0.44	GT:AD:DP:GQ:PL	0/1:15,23:38:99:708,0,406	4	0	2	0
chr9	133570435	133570435	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon17:c.C2520T:p.A840A,ADAMTSL2:NM_014694:exon17:c.C2520T:p.A840A	Geleophysic dysplasia 1, Autosomal recessive	0	1450	72	0	0	72	0.0242261	.	.	.	311652	Geleophysic_dysplasia_1|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010414	161	154602	rs368922820	0.0135	0.0135	0.0136	0.0135	0.0515	0.0134	0.0133	0.0467	0.0448	0.0028	0.0108	0.0308	0.0003	0.0020	0.0515	0.0149	0.0154	0.0056	0.0103	0.0103	0.0109	0.0098	0.0159	0.0099	0.0097	0.0151	0.0148	0.0031	0.0099	0.0110	0.0268	0.0004	0.0012	0.0340	0.0159	0.0156	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1815.06	34	chr9	133570435	.	C	T	1815.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.824;DP=289;ExcessHet=0.4139;FS=3.977;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.372;SOR=1.012	GT:AD:DP:GQ:PL	0/1:25,39:64:99:1064,0,570	4	0	2	0
chr9	136504898	136504898	C	T	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon26:c.G4793A:p.R1598H	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	510069	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|Aortic_valve_disease_1|Adams-Oliver_syndrome_5	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.140346222394	.	.	0.0001	0.0003	0	0	0	0.0002	0	0.0001	3.88e-05	6	154602	rs755124691	7.679e-05	8.345e-05	7.473e-05	7.888e-05	0.0003	6.512e-05	6.06e-05	6.869e-05	6.361e-05	3.028e-05	7.428e-05	0	0	2.018e-05	0.0003	8.286e-05	0.0001	7.29e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	5.284e-05	2.834e-05	0	0	0.0002	0	0	0	0	2.94e-05	0	0	0.188	0.21304	T	0.759	0.04652	T	0.093	0.25333	B	0.02	0.19048	B	0.000023	0.55875	N	0.120960	0.999997	0.58761	D	1.21	0.30464	L	-2.0	0.85393	D	-0.16	0.09460	N	0.266	0.30118	-0.6430	0.63018	T	0.354	0.71696	T	10	0.2406252	0.41225	T	0.140346	0.82280	D	0.206	0.49396	0.662	0.79996	0.743473773353	0.74117	.	.	1.02302341206	0.75177	0.534981548786	0.43736	T	0.299808	0.67232	T	-0.0317255	0.47167	T	-0.283348	0.46459	T	0.0261470783072617	0.01425	T	0.715028	0.32735	T	0.20531413	0.42669	0.09250828	0.21805	0.20531413	0.42669	0.09250828	0.21805	-6.091	0.47035	T	.	.	.	.	.	.	.	2.890232	0.38275	20.7	0.39446284370798851	0.02722	0.93561	0.58553	D	AEFDGBHI	0.597087	0.59101	D	-0.337405448879681	0.27737	1.524266	-0.218936637762059	0.30856	1.741076	0.999999498337819	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.17	3.25	0.36363	4.774000	0.62033	0.052000	0.14014	0.535000	0.24933	1.000000	0.71638	0.001000	0.17328	0.628000	0.32104	0.0:0.8959:0.0:0.1041	9.988	0.41025	934	0.15400	Notch, NOD domain|Notch, NOD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1767.83	33	chr9	136504898	.	C	T	1767.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.274;DP=295;ExcessHet=0;FS=1.474;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.355;SOR=0.899	GT:AD:DP:GQ:PL	0/1:52,70:122:99:1778,0,1367	5	0	1	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	964.16	3	chr10	8074278	.	G	GA	964.16	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-0.697;DP=58;ExcessHet=0.4139;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=23.52;ReadPosRankSum=0.366;SOR=1.565	GT:AD:DP:GQ:PL	0/1:1,6:7:7:148,0,7	0	4	2	0
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	277	416	362	467	0	1296	0.609023	.	.	.	135501	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.75	3832.68	30	chr10	23193706	.	T	C	3832.68	.	AC=9;AF=0.75;AN=12;BaseQRankSum=3.38;DP=162;ExcessHet=0;FS=2.793;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=29.94;ReadPosRankSum=1.8;SOR=1.354	GT:AD:DP:GQ:PL	1/1:0,26:26:78:877,78,0	1	4	1	0
chr10	43114671	43114671	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon8:c.G1309A:p.G437S,RET:NM_020630:exon11:c.G2071A:p.G691S,RET:NM_020975:exon11:c.G2071A:p.G691S	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	5	773	611	133	0	877	0.361948	.	.	.	36275	Multiple_endocrine_neoplasia_type_2B|not_specified|Renal_hypodysplasia/aplasia_1|Multiple_endocrine_neoplasia,_type_2|Multiple_endocrine_neoplasia_type_2A|Hirschsprung_disease,_susceptibility_to,_1|Multiple_endocrine_neoplasia|Hereditary_cancer-predisposing_syndrome|not_provided|Pheochromocytoma	MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653|MedGen:CN169374|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	.	0.1570	0.169129	0.2033	0.1026	0.3688	0.1094	0.2214	0.1887	0.2272	0.2500	0.196938	30447	154602	rs1799939	0.1852	0.1852	0.1834	0.1871	0.3384	0.1846	0.1844	0.3339	0.3320	0.0963	0.3384	0.1988	0.0943	0.2118	0.2536	0.1778	0.1804	0.2569	0.1695	0.1698	0.1662	0.1731	0.2485	0.1678	0.1671	0.2419	0.2392	0.1010	0.1579	0.2485	0.2015	0.1055	0.2299	0.2397	0.1818	0.1795	0.2432	0.178	0.22138	T	0.123	0.35582	T	0.062	0.25884	B	0.007	0.17743	B	0.003826	0.34438	N	0.349618	1	0.08975	P	0.55	0.14455	N	-1.05	0.78082	T	-0.95	0.25332	N	0.045	0.02088	-1.0975	0.04407	T	0.000	0.00039	T	9	0.005253911	0.00115	T	.	.	.	0.207	0.49555	.	.	.	.	0.5028086851049985	0.50202	0.204518158434	0.22873	0.348253011703	0.17664	T	0.423	0.77390	T	-0.557986	0.00261	T	-0.430465	0.29884	T	0.0152077337298967	0.00333	T	0.842016	0.51794	T	0.039440107	0.05446	0.038123365	0.03613	0.03964718	0.05514	0.041703895	0.04799	-0.799	0.00802	T	0.11972520613525756	0.11186	0.073	0.04477	B	.;.	.;.	1.310757	0.17138	12.98	0.85950769653778381	0.16217	0.38801	0.26070	N	AEFDGBCI	0.075412	0.15142	N	-0.84095240757271	0.12273	0.5972382	-0.786731628796562	0.14821	0.77639	0.604377329902492	0.21753	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.75	-1.08	0.09428	4.413000	0.59549	1.794000	0.28824	0.676000	0.76740	1.000000	0.71638	0.910000	0.28117	0.003000	0.05239	0.7374:0.0:0.2626:0.0	9.258	0.36757	856	0.34373	.;.	RASGEF1A|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|RASGEF1A|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid	CSGALNACT2|CSGALNACT2	Artery_Tibial|Nerve_Tibial	rs1799939	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.246224	0.232323	0.247956	0.263158	0.300000	0.250000	0.234756	0.272727	0.1667	2770.06	34	chr10	43114671	.	G	A	2770.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.17;DP=366;ExcessHet=0.4139;FS=3.227;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.799;SOR=0.501	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1401,0,1154	4	0	2	0
chr10	52771475	52771475	C	T	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.G161A:p.G54D,MBL2:NM_001378373:exon2:c.G161A:p.G54D,MBL2:NM_001378374:exon2:c.G161A:p.G54D	.	417	840	239	26	0	291	0.147641	.	.	.	29389	not_specified|not_provided|Mannose-binding_lectin_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.728	.	0.1026	0.122005	0.1389	0.0297	0.1677	0.1731	0.1385	0.1459	0.1487	0.1406	0.136693	21133	154602	rs1800450	0.1410	0.1410	0.1409	0.1411	0.1881	0.1405	0.1403	0.1846	0.1831	0.0277	0.1741	0.1373	0.1881	0.1334	0.1189	0.1421	0.1382	0.1408	0.1164	0.1166	0.1139	0.1191	0.1726	0.1150	0.1144	0.1671	0.1649	0.0339	0.1956	0.1726	0.1503	0.1676	0.1467	0.1361	0.1412	0.1237	0.1363	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.001384	0.39175	N	0.117435	0.000104405	0.50595	P	4.29	0.98219	H	-5.77	0.99345	D	-6.1	0.89985	D	0.18	0.19459	-1.2495	0.00008	T	0.185	0.53376	T	9	0.0017509758	0.00022	T	.	.	.	0.728	0.90457	.	.	.	.	0.8229376436818094	0.82250	0.497859118466	0.48274	0.621536254883	0.55947	T	0.723671	0.92210	D	-0.0856461	0.38793	T	0.248019	0.85524	D	0.0679099384046752	0.08356	T	0.973953	0.90669	D	0.8690599	0.88787	0.84412843	0.91112	0.8690599	0.88789	0.81878877	0.89461	-13.651	0.91867	D	0.8926840177459547	0.94682	0.830	0.78746	P	.	.	4.151795	0.62284	24.4	0.99855563460931351	0.93458	0.69099	0.34055	D	AEFBCI	0.348004	0.44228	N	0.885495860096478	0.91031	10.68206	0.721114162042881	0.83984	8.166846	0.999999443880767	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.99	0.45527	2.556000	0.45524	4.049000	0.41491	0.599000	0.40250	0.294000	0.25270	0.998000	0.33993	0.937000	0.47636	0.0:1.0:0.0:0.0	11.885	0.51878	901	0.24189	.	MBL2|MBL2	Nerve_Tibial|Testis	.	.	rs1800450	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.126531	0.118280	0.099455	0.150000	0.222222	0.129310	0.164596	0.131783	0.1667	2524.06	34	chr10	52771475	.	C	T	2524.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.201;DP=336;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.435;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,41:77:99:0|1:52771475_C_T:964,0,1368:52771475	4	0	2	0
chr10	52771482	52771482	G	A	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.C154T:p.R52C,MBL2:NM_001378373:exon2:c.C154T:p.R52C,MBL2:NM_001378374:exon2:c.C154T:p.R52C	.	425	935	151	11	0	173	0.0846794	.	.	YES	29391	not_provided|Cystic_fibrosis|Mannose-binding_lectin_deficiency	MedGen:C3661900|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.527	.	0.0498	0.0271565	0.0569	0.0110	0.0264	0.0002	0.0584	0.0761	0.0551	0.0594	0.0560536	8666	154602	rs5030737	0.0659	0.0659	0.0653	0.0665	0.0735	0.0656	0.0654	0.0712	0.0711	0.0099	0.0272	0.1038	0.0002	0.0576	0.0735	0.0717	0.0612	0.0602	0.0494	0.0494	0.0501	0.0486	0.0722	0.0484	0.0481	0.0705	0.0699	0.0118	0.1567	0.0387	0.0991	0.0004	0.0609	0.0272	0.0722	0.0498	0.0567	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.977	0.73820	D	0.032677	0.24997	N	0.247365	0.993411	0.41932	A	3.445	0.92174	M	-3.2	0.93231	D	-4.94	0.81835	D	0.091	0.06990	0.062	0.83463	D	0.432	0.77374	T	9	0.0030004382	0.00049	T	.	.	.	0.527	0.80007	.	.	.	.	0.42006838530462065	0.41922	0.502214769166	0.48587	0.327009618282	0.14483	T	0.618358	0.88002	D	-0.221839	0.17743	T	-0.0280537	0.68498	D	0.0674288808456765	0.08286	T	0.974003	0.90706	D	0.5926832	0.72296	0.43889147	0.67259	0.5926832	0.72297	0.45634174	0.68400	-9.391	0.70179	D	0.7007590763589189	0.77970	0.236	0.46915	B	.	.	4.056622	0.60165	24.2	0.99917815049540892	0.98518	0.09150	0.14963	N	AEFBCI	0.132216	0.25144	N	0.380477454125213	0.60365	4.224615	0.19217995272698	0.49416	3.145189	0.999376067672215	0.39355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.07	0.34476	0.972000	0.29007	2.800000	0.34847	0.676000	0.76740	0.002000	0.15269	0.165000	0.23294	0.959000	0.51448	0.0:0.0:0.7818:0.2182	9.112	0.35898	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053462	0.005208	0.053134	0.047059	0.055556	0.068966	0.087500	0.062016	0.08333	900.83	34	chr10	52771482	.	G	A	900.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.78;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.521;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,36:78:99:1|0:52771475_C_T:911,0,1637:52771475	5	0	1	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5586.48	10	chr10	90918983	.	AATAAATAAATATATATAT	A	5586.48	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.888;DP=171;ExcessHet=0;FS=1.996;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=30.52;ReadPosRankSum=1.51;SOR=0.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,18:21:71:0|1:90918983_AATAAATAAATATATATAT_A:737,0,71:90918983	1	4	1	0
chr10	94031559	94031559	G	A	exonic	PLCE1	.	synonymous SNV	PLCE1:NM_001288989:exon2:c.G513A:p.V171V,PLCE1:NM_016341:exon2:c.G513A:p.V171V	Nephrotic syndrome, type 3, Autosomal recessive	1	1495	26	0	0	26	0.00862069	.	.	.	253926	Nephrotic_syndrome,_type_3|Focal_segmental_glomerulosclerosis|not_provided|PLCE1-related_disorder	MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000998403	0.0012	0.0001	0.0010	0	0.0003	0.0017	0.0033	0.0012	0.0011837	183	154602	rs61749239	0.0011	0.0011	0.0010	0.0012	0.0161	0.0011	0.0010	0.0135	0.0125	0.0004	0.0011	0.0102	0	0	0.0161	0.0008	0.0025	0.0014	0.0011	0.0011	0.0012	0.0011	0.0015	0.0010	0.0010	0.0010	0.0009	0.0001	0	0.0015	0.0098	0	9.42e-05	0.0306	0.0012	0.0052	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.013092	0.005051	0.016304	0.017544	0.000000	0.017241	0.009146	0.007576	0.1667	3340.06	151	chr10	94031559	.	G	A	3340.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.033;DP=407;ExcessHet=0.4139;FS=0.936;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.009;SOR=0.743	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1478,0,1541	4	0	2	0
chr10	95621190	95621190	C	T	exonic	ALDH18A1	.	synonymous SNV	ALDH18A1:NM_001323419:exon9:c.G672A:p.L224L,ALDH18A1:NM_001323412:exon11:c.G975A:p.L325L,ALDH18A1:NM_001323416:exon11:c.G975A:p.L325L,ALDH18A1:NM_001323417:exon11:c.G1203A:p.L401L,ALDH18A1:NM_001323418:exon11:c.G969A:p.L323L,ALDH18A1:NM_001017423:exon12:c.G1302A:p.L434L,ALDH18A1:NM_001323413:exon12:c.G1308A:p.L436L,ALDH18A1:NM_001323414:exon12:c.G1308A:p.L436L,ALDH18A1:NM_001323415:exon12:c.G1302A:p.L434L,ALDH18A1:NM_002860:exon12:c.G1308A:p.L436L	Cutis laxa, autosomal dominant 3, Autosomal dominant;Cutis laxa, autosomal recessive, type IIIA, Autosomal recessive, Isolated cases;Spastic paraplegia 9A, autosomal dominant, Autosomal dominant;Spastic paraplegia 9B, autosomal recessive, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	311800	Hereditary_spastic_paraplegia|ALDH18A1-related_disorder|not_provided|ALDH18A1-related_de_Barsy_syndrome|Autosomal_dominant_spastic_paraplegia_type_9|de_Barsy_syndrome|Cutis_laxa,_autosomal_dominant_3	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.|MedGen:C3661900|MONDO:MONDO:0009053,MedGen:C5234852,OMIM:219150,Orphanet:2962,Orphanet:35664|MONDO:MONDO:0015091,MedGen:C1832669|MONDO:MONDO:0017569,MedGen:C0268354,Orphanet:2962|MONDO:MONDO:0014706,MedGen:C4225268,OMIM:616603,Orphanet:90348	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.000399361	0.0013	0.0003	0.0002	0	0.0031	0.0020	0.0011	0	0.0012742	197	154602	rs144816455	0.0013	0.0013	0.0013	0.0013	0.0015	0.0013	0.0012	0.0014	0.0014	0.0002	0.0003	3.826e-05	2.519e-05	0.0027	0.0002	0.0015	0.0011	2.319e-05	0.0011	0.0011	0.0011	0.0010	0.0019	0.0009	0.0009	0.0016	0.0015	0.0002	0	0.0002	0	0	0.0022	0	0.0019	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1057.83	34	chr10	95621190	.	C	T	1057.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.164;DP=250;ExcessHet=0;FS=2.172;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=1.44;SOR=0.438	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1068,0,1071	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	3426.01	20	chr10	123053169	.	AT	A	3426.01	.	AC=11;AF=0.917;AN=12;BaseQRankSum=1.33;DP=175;ExcessHet=0;FS=1.716;MLEAC=11;MLEAF=0.917;MQ=60;MQRankSum=0;QD=25.76;ReadPosRankSum=1.13;SOR=0.427	GT:AD:DP:GQ:PL	0/1:7,7:14:99:153,0,145	0	5	1	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.75	11875.7	164	chr11	2159830	.	T	G	11875.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-0.074;DP=616;ExcessHet=1.383;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.407;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,34:67:99:0|1:2159830_T_G:967,0,1263:2159830	0	3	3	0
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	9	194	657	662	0	1981	0.836218	.	.	.	319487	Diabetes_mellitus,_transient_neonatal,_3|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6667	5553.62	49	chr11	17386857	.	C	T	5553.62	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.75;DP=277;ExcessHet=0.1336;FS=3.01;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.36;ReadPosRankSum=1.17;SOR=0.959	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1262,111,0	1	3	2	0
chr11	17393023	17393023	C	T	exonic	ABCC8	.	nonsynonymous SNV	ABCC8:NM_000352:exon39:c.G4714A:p.V1572I,ABCC8:NM_001287174:exon39:c.G4717A:p.V1573I,ABCC8:NM_001351295:exon39:c.G4780A:p.V1594I,ABCC8:NM_001351296:exon39:c.G4714A:p.V1572I,ABCC8:NM_001351297:exon39:c.G4711A:p.V1571I	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	0	1264	229	29	0	287	0.101954	.	.	.	167553	not_specified|Transient_Neonatal_Diabetes,_Dominant|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hereditary_hyperinsulinism|Neonatal_hypoglycemia|Permanent_neonatal_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Hyperinsulinism,_Dominant/Recessive	MedGen:CN169374|MedGen:CN239283|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|.|Human_Phenotype_Ontology:HP:0001998,MedGen:C0158986|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN239464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.172	.	0.0554	0.0311502	0.0562	0.0284	0.0283	0.0005	0.0384	0.0709	0.0721	0.0693	0.0551287	8523	154602	rs8192690	0.0582	0.0582	0.0571	0.0594	0.1014	0.0579	0.0578	0.0946	0.0919	0.0305	0.0323	0.1453	0.0047	0.0393	0.1014	0.0597	0.0621	0.0682	0.0505	0.0505	0.0521	0.0488	0.0637	0.0495	0.0492	0.0621	0.0614	0.0298	0.0462	0.0475	0.1510	0.0017	0.0370	0.0918	0.0637	0.0614	0.0559	0.461	0.08839	T	0.932	0.02759	T	0.005	0.12996	B	0.002	0.06944	B	0.001201	0.39899	N	0.211847	0.999403	0.46935	D	-0.105	0.04674	N	-2.66	0.90272	D	0.09	0.05917	N	0.031	0.00770	-0.8860	0.49273	T	0.060	0.24981	T	10	0.0015296042	0.00017	T	.	.	.	0.172	0.43662	.	.	.	.	0.686121190666775	0.68552	0.573721100839	0.53415	0.297033429146	0.09959	T	0.325293	0.69602	T	-0.524791	0.00412	T	-0.476345	0.24835	T	0.000768647569014637	0.00007	T	0.853715	0.53946	D	0.021481223	0.00753	0.025963206	0.00662	0.029005436	0.02326	0.025963206	0.00662	-3.672	0.18905	T	0.12925399021544368	0.13478	0.068	0.04316	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.999690	0.13782	10.33	0.86328323834373999	0.16463	0.25673	0.22769	N	AEFDBI	0.219392	0.34428	N	-0.96217036324778	0.09421	0.4458007	-0.827751153180889	0.13824	0.7191935	0.998921802827047	0.37985	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.2	1.28	0.20656	0.486000	0.22048	-3.237000	0.02946	-0.182000	0.10109	0.037000	0.20830	0.000000	0.08366	0.805000	0.37950	0.0:0.6252:0.0:0.3748	8.346	0.31437	594	0.68584	ABC transporter-like;.;ABC transporter-like;.;ABC transporter-like;ABC transporter-like;ABC transporter-like;ABC transporter-like	RP1-239B22.5|NCR3LG1|RP1-239B22.5|RP1-239B22.5|NCR3LG1|RP1-239B22.5|RP1-239B22.5|RP1-239B22.5|NCR3LG1|RP1-239B22.5|KCNJ11|NCR3LG1|NCR3LG1|RP1-239B22.5	Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Nerve_Tibial|Testis|Testis	.	.	rs8192690	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.088117	0.090909	0.103261	0.078947	0.000000	0.112069	0.100610	0.071970	0.25	4143.03	33	chr11	17393023	.	C	T	4143.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.86;DP=490;ExcessHet=1.383;FS=0.373;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.664;SOR=0.719	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1364,0,1247	3	0	3	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	445	728	343	0	1414	0.613715	.	.	.	167548	not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3592.5	34	chr11	17395957	.	A	G	3592.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.31;DP=263;ExcessHet=0.7136;FS=7.619;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=18.81;ReadPosRankSum=-0.317;SOR=0.313	GT:AD:DP:GQ:PL	0/1:19,23:42:99:620,0,573	2	1	3	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	314	660	541	0	1742	0.735021	.	.	.	167542	not_specified|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3446.51	40	chr11	17408375	.	T	C	3446.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.798;DP=213;ExcessHet=0.095;FS=6.67;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.8;ReadPosRankSum=0.939;SOR=0.235	GT:AD:DP:GQ:PL	0/1:7,18:25:99:489,0,198	2	2	2	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	703	213	106	500	0	1106	0.721932	.	.	.	1166871	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	803.64	10	chr11	17414293	.	A	G	803.64	.	AC=6;AF=0.6;AN=10;BaseQRankSum=-2.45;DP=57;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=23.64;ReadPosRankSum=1.28;SOR=0.619	GT:AD:DP:GQ:PL	0/1:4,6:10:99:170,0,125	1	2	2	1
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	87	248	463	724	0	1911	0.793934	.	.	.	1166872	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3100.51	31	chr11	17414389	.	G	A	3100.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.421;DP=161;ExcessHet=0.095;FS=3.026;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.45;ReadPosRankSum=-0.735;SOR=1.348	GT:AD:DP:GQ:PL	0/1:5,15:20:99:454,0,113	2	2	2	0
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	19	213	530	760	0	2050	0.827948	.	.	.	1166873	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4470.51	47	chr11	17414419	.	G	A	4470.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.754;DP=237;ExcessHet=0.095;FS=3.38;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.93;ReadPosRankSum=0.132;SOR=1.213	GT:AD:DP:GQ:PL	0/1:6,24:30:99:737,0,126	2	2	2	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	93	473	950	0	2373	0.927315	.	.	.	1166874	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	5392.9	60	chr11	17415389	.	A	G	5392.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.08;DP=299;ExcessHet=0.7136;FS=9.048;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=20.9;ReadPosRankSum=0.667;SOR=0.348	GT:AD:DP:GQ:PL	0/1:18,18:36:99:504,0,450	1	2	3	0
chr11	17463424	17463424	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	597	684	234	0	1152	0.491049	.	.	.	167555	Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Type_2_diabetes_mellitus|not_provided|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10825.5	161	chr11	17463424	.	G	A	10825.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.684;DP=681;ExcessHet=0.7136;FS=1.927;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-0.512;SOR=0.913	GT:AD:DP:GQ:PL	0/1:59,66:125:99:2006,0,1682	2	1	3	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P,ABCC8:NM_001287174:exon2:c.T207C:p.P69P,ABCC8:NM_001351295:exon2:c.T207C:p.P69P,ABCC8:NM_001351296:exon2:c.T207C:p.P69P,ABCC8:NM_001351297:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	1	302	754	465	0	1684	0.736014	.	.	YES	167535	not_provided|Hyperinsulinemia|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|not_specified|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Permanent_neonatal_diabetes_mellitus	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN169374|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.599698	0.671717	0.631793	0.649123	0.550000	0.534483	0.521341	0.564394	0.5833	18271.9	238	chr11	17474969	.	A	G	18271.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-2.112;DP=1356;ExcessHet=6.1542;FS=0.525;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=1.27;SOR=0.66	GT:AD:DP:GQ:PL	0/1:116,76:192:99:1633,0,3150	0	1	5	0
chr11	61392546	61392546	G	A	UTR5	TMEM216	NM_001330285:c.-1385G>A;NM_001173991:c.-86G>A;NM_016499:c.-1385G>A	.	.	Joubert syndrome 2, Autosomal recessive;Meckel syndrome 2, Autosomal recessive	9	1489	24	0	0	24	0.00799467	.	.	.	868160	not_provided|Meckel_syndrome,_type_2|Joubert_syndrome_2	MedGen:C3661900|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194,Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091,Orphanet:2318	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00459265	.	.	.	.	.	.	.	.	0.0014984	39	26028	rs188478638	0.0008	0.0007	0.0005	0.0011	0.0099	0.0007	0.0007	0.0093	0.0091	3.706e-05	0.0006	0	0	0	0.0023	0.0001	0.0012	0.0099	0.0005	0.0005	0.0003	0.0008	0.0120	0.0005	0.0004	0.0095	0.0087	4.813e-05	0	0.0006	0	0	0	0.0034	0.0002	0.0009	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	236.85	20	chr11	61392546	.	G	A	236.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.592;DP=84;ExcessHet=0;FS=6.726;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-1.58;SOR=0.047	GT:AD:DP:GQ:PL	0/1:7,9:16:99:247,0,178	5	0	1	0
chr11	65557854	65557854	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.105_106insCTGCTG:p.L35_G36insLL,LTBP3:NM_021070:exon1:c.105_106insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	390556	not_specified|Geleophysic_dysplasia_3|Brachyolmia-amelogenesis_imperfecta_syndrome	MedGen:CN169374|MONDO:MONDO:0054722,MedGen:C4540511,OMIM:617809|MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0517173	0.0922	0.0185	0.0385	0	0.0234	0.1274	0.1071	0.0908	0.0029172	451	154602	rs535365850	0.1577	0.1430	0.1586	0.1569	0.1715	0.1571	0.1569	0.1708	0.1705	0.0412	0.1142	0.1239	0.0536	0.0926	0.1486	0.1715	0.1411	0.0804	0.1243	0.1253	0.1302	0.1180	0.1808	0.1228	0.1222	0.1781	0.1770	0.0497	0.2698	0.1236	0.1428	0.0282	0.0948	0.2063	0.1808	0.1207	0.0933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1030.69	34	chr11	65557854	.	C	CCAGCAG	1030.69	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.199;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=27.86;ReadPosRankSum=-0.592;SOR=0.651	GT:AD:DP:GQ:PL	0/1:12,7:19:99:233,0,484	4	0	2	0
chr11	68406721	68406721	G	A	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_001291902:exon9:c.G256A:p.V86M,LRP5:NM_002335:exon9:c.G1999A:p.V667M	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1301	205	16	0	237	0.0834801	.	.	.	21315	not_specified|Increased_bone_mineral_density|Exudative_vitreoretinopathy_1|Autosomal_dominant_osteopetrosis_1|Exudative_vitreoretinopathy_4|Osteoporosis_with_pseudoglioma|Polycystic_liver_disease_4_with_or_without_kidney_cysts|Worth_disease|Osteoporosis|Bone_mineral_density_quantitative_trait_locus_1|not_provided|Osteogenesis_imperfecta|Retinal_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0002796,Human_Phenotype_Ontology:HP:0004350,Human_Phenotype_Ontology:HP:0005711,Human_Phenotype_Ontology:HP:0005741,Human_Phenotype_Ontology:HP:0010738,Human_Phenotype_Ontology:HP:0011001,MONDO:MONDO:0002933,MeSH:D010026,MedGen:C0029464|MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050|MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634,Orphanet:2783|MONDO:MONDO:0011151,MedGen:C1866176,OMIM:601813,Orphanet:891|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770,Orphanet:2788|MONDO:MONDO:0044327,MedGen:C4693479,OMIM:617875|MONDO:MONDO:0007764,MedGen:C0432273,OMIM:144750,Orphanet:2790|Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710|MedGen:C1866079,OMIM:601884|MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.552	.	0.0413	0.0183706	0.0377	0.0088	0.0287	0.0001	0.0122	0.0537	0.0442	0.0270	0.0382013	5906	154602	rs4988321	0.0464	0.0465	0.0468	0.0461	0.0954	0.0461	0.0460	0.0888	0.0862	0.0089	0.0348	0.0924	0.0001	0.0130	0.0954	0.0515	0.0457	0.0269	0.0347	0.0347	0.0357	0.0337	0.0517	0.0339	0.0336	0.0502	0.0497	0.0097	0.0395	0.0426	0.0876	0.0004	0.0099	0.1164	0.0517	0.0534	0.0257	0.039	0.42487	D	0.093	0.39799	T	0.993	0.65571	D	0.744	0.55835	P	0.000545	0.43413	U	0.000000	1	0.81001	D	2.42	0.70002	M	-2.96	0.91956	D	-1.32	0.32991	N	0.165	0.17416	0.006	0.82387	D	0.375	0.73302	T	9	0.0044097304	0.00090	T	.	.	.	0.552	0.81485	.	.	.	.	0.7134114975413333	0.71284	0.434265697111	0.43557	0.780145823956	0.78950	T	0.413379	0.76726	T	-0.0600691	0.42896	T	0.179668	0.81976	D	0.0486499542425239	0.05261	T	0.909009	0.67793	D	0.13268982	0.30889	0.16171636	0.37601	0.13268982	0.30888	0.16171636	0.37600	-8.036	0.61316	D	0.2459009221151293	0.33305	0.138	0.30076	B	.	.	4.677049	0.74812	26.2	0.99871326386967618	0.94902	0.98334	0.81734	D	AEFDGBI	0.907886	0.86248	D	0.681822207697314	0.78441	6.87238	0.631390098776899	0.77233	6.639753	0.999999999998874	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.570548	0.19454	0	0.735409	0.98432	0	.	.	4.11	4.11	0.47350	7.867000	0.85489	11.685000	0.94275	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.950	0.86112	658	0.62094	.	.	.	.	.	rs4988321	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.075101	0.045455	0.076087	0.119883	0.150000	0.103448	0.091463	0.034091	0.08333	1331.83	42	chr11	68406721	.	G	A	1331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=297;ExcessHet=0;FS=2.75;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.673;SOR=0.81	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1342,0,1051	5	0	1	0
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	0	682	633	207	0	1047	0.43426	.	.	YES	18817	Oculocutaneous_albinism|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B|not_specified|Albinism_or_congenital_nystagmus	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	0.2748	0.123403	0.2518	0.0620	0.1918	0.0008	0.1818	0.3663	0.2907	0.1085	0.261019	40354	154602	rs1042602	0.3220	0.3220	0.3252	0.3188	0.3670	0.3213	0.3209	0.3661	0.3657	0.0507	0.2157	0.4485	0.0009	0.1815	0.3226	0.3670	0.3000	0.1142	0.2419	0.2419	0.2523	0.2311	0.3651	0.2398	0.2390	0.3613	0.3597	0.0668	0.3425	0.2714	0.4547	0.0023	0.1828	0.4048	0.3651	0.3011	0.0986	0.031	0.45039	D	0.003	0.76473	D	0.997	0.70673	D	0.974	0.73157	D	0.000008	0.62929	D	0.065875	0.999508	0.21084	P	1.845	0.48678	L	-5.1	0.98700	D	-2.79	0.59059	D	0.382	0.42345	-1.7843	0.00000	T	0.000	0.00039	T	8	0.0053822994	0.00118	T	.	.	.	0.355	0.67600	.	.	.	.	0.6892773878264551	0.68867	0.0688238525608	0.07705	0.439628481865	0.30526	T	0.88496	0.97618	D	-0.260349	0.12860	T	-0.00292912	0.70146	D	0.0152115171034676	0.00334	T	0.744526	0.36463	T	0.16305736	0.36423	0.21538205	0.46125	0.19196893	0.40846	0.22641657	0.47618	-9.607	0.71523	D	0.3624652220777897	0.45877	0.135	0.29228	B	.	.	4.082595	0.60747	24.3	0.99333304920791965	0.59856	0.86225	0.45465	D	AEFBI	0.785702	0.71601	D	0.494697286576891	0.66780	4.99452	0.417875167062087	0.62678	4.48737	0.993650488775012	0.33302	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.505000	0.60141	5.876000	0.50589	0.599000	0.40250	0.420000	0.26330	1.000000	0.68203	0.864000	0.41028	0.1393:0.8607:0.0:0.0	15.385	0.74410	864	0.32732	Tyrosinase copper-binding domain	CBX3P7|CTSC	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs1042602	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.325780	0.454545	0.342391	0.146199	0.200000	0.310345	0.426829	0.234848	0.4167	14677.5	210	chr11	89178528	.	C	A	14677.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.939;DP=919;ExcessHet=0.7136;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=0.757;SOR=0.679	GT:AD:DP:GQ:PL	0/1:106,90:196:99:2364,0,2839	2	1	3	0
chr11	89284793	89284793	G	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon4:c.G1205A:p.R402Q	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	9	1058	383	72	0	527	0.199395	.	.	YES	18818	Oculocutaneous_albinism_type_1A|Malignant_tumor_of_breast|Oculocutaneous_albinism_type_1|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Melanoma,_cutaneous_malignant,_susceptibility_to,_8|Skin/hair/eye_pigmentation_3,_blue/green_eyes|Oculocutaneous_albinism_type_1B|Temperature-sensitive_oculocutaneous_albinism_type_1|Autosomal_recessive_ocular_albinism|Elevated_circulating_hepatic_transaminase_concentration|Albinism|Slow_decrease_in_visual_acuity|Abnormality_of_metabolism/homeostasis|Foveal_hypoplasia|Choroidal_neovascularization|not_provided|Albinism_or_congenital_nystagmus|not_specified	MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822|MedGen:C3149136|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737|MONDO:MONDO:0040653,MedGen:C0268503|Human_Phenotype_Ontology:HP:0001411,Human_Phenotype_Ontology:HP:0002910,Human_Phenotype_Ontology:HP:0003143,Human_Phenotype_Ontology:HP:0003156,Human_Phenotype_Ontology:HP:0003293,Human_Phenotype_Ontology:HP:0006567,Human_Phenotype_Ontology:HP:0006578,Human_Phenotype_Ontology:HP:0008267,Human_Phenotype_Ontology:HP:0008342,MedGen:C0235996|Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916|Human_Phenotype_Ontology:HP:0007652,Human_Phenotype_Ontology:HP:0007924,MedGen:C1853141|Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768|Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520|Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.695	.	0.2032	0.08127	0.1770	0.0463	0.0916	0.0001	0.1643	0.2648	0.1659	0.0608	0.179804	27798	154602	rs1126809	0.2537	0.2537	0.2597	0.2476	0.2948	0.2530	0.2527	0.2940	0.2937	0.0410	0.1059	0.2429	0.0003	0.1687	0.1920	0.2948	0.2402	0.0686	0.1771	0.1771	0.1855	0.1683	0.2791	0.1753	0.1746	0.2758	0.2744	0.0499	0.2104	0.1593	0.2389	0.0016	0.1587	0.2109	0.2791	0.1856	0.0621	0.029	0.45756	D	0.08	0.41913	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1.73264e-07	0.58761	P	2.33	0.66821	M	-4.81	0.98183	D	-1.82	0.42763	N	0.158	0.16447	-1.7609	0.00000	T	0.001	0.00467	T	8	0.0029481053	0.00048	T	.	.	.	0.695	0.88960	.	.	.	.	0.863477434631447	0.86311	0.0660713889884	0.07370	0.289043188095	0.08784	T	0.826304	0.95806	D	-0.0145316	0.49629	T	0.35017	0.90322	D	0.0174764102512555	0.00483	T	0.885611	0.61095	D	0.5661954	0.70851	0.34258145	0.59982	0.5661954	0.70852	0.34258145	0.59981	-5.31	0.40042	T	0.5023316321969571	0.57735	0.143	0.31381	B	.	.	4.835361	0.78885	27.0	0.99957571441372317	0.99986	0.98215	0.80611	D	AEFGI	0.951836	0.96675	D	0.68763707772779	0.78821	6.949664	0.655048704856478	0.78985	6.988198	0.999827743249958	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	7.561000	0.81256	8.710000	0.78133	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.625	0.87992	894	0.26265	Tyrosinase copper-binding domain	.	.	.	.	rs1126809	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	0.159341	0.110169	0.144231	0.105263	0.500000	0.258929	0.234127	0.192308	0.25	1520.03	33	chr11	89284793	.	G	A	1520.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.41;DP=214;ExcessHet=1.383;FS=2.618;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.911;SOR=0.966	GT:AD:DP:GQ:PL	0/1:12,13:25:99:369,0,270	3	0	3	0
chr11	108304736	108304736	A	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon37:c.A5558T:p.D1853V,ATM:NM_001351834:exon38:c.A5558T:p.D1853V	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1498	21	2	0	25	0.00827541	.	.	YES	137362	Hereditary_breast_ovarian_cancer_syndrome|not_specified|Familial_cancer_of_breast|Ataxia-telangiectasia_syndrome|Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.421415473121	0.0048	0.00179712	0.0052	0.0012	0.0024	0	0.0026	0.0069	0.0055	0.0064	0.004987	771	154602	rs1801673	0.0049	0.0049	0.0048	0.0049	0.0058	0.0048	0.0048	0.0054	0.0052	0.0005	0.0032	0.0071	5.041e-05	0.0036	0.0038	0.0052	0.0050	0.0058	0.0044	0.0044	0.0046	0.0042	0.0073	0.0041	0.0040	0.0068	0.0066	0.0008	0.0077	0.0029	0.0072	0.0002	0.0029	0	0.0073	0.0024	0.0050	0.006	0.61437	D	0.007	0.69154	D	0.881	0.48446	P	0.423	0.45170	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	-0.75	0.73311	T	-4.52	0.78302	D	0.666	0.78832	-0.1943	0.77818	T	0.330	0.69800	T	10	0.016077608	0.00338	T	0.421415	0.93800	D	0.589	0.83582	.	.	0.862668985381	0.86133	0.5754807337306314	0.57477	0.230346816679	0.25583	0.484472572803	0.36672	T	0.26251	0.63409	T	0.0244139	0.54975	T	0.267279	0.86437	D	0.032220271790473	0.02342	T	0.90061	0.65471	D	0.6116418	0.73316	0.329566	0.58835	0.6022599	0.72813	0.26657072	0.52504	-7.74	0.59285	D	0.4752428700619266	0.55493	0.417	0.60512	A	.;.	.;.	4.271423	0.64994	24.8	0.99282703511633685	0.57973	0.97398	0.74496	D	AEFGBI	0.662245	0.63218	D	0.535458318470551	0.69203	5.323629	0.570547549243884	0.72837	5.873341	0.999923395911117	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.52	5.52	0.82153	5.468000	0.66473	7.973000	0.76046	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.936	0.79492	145	0.94217	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	970.83	33	chr11	108304736	.	A	T	970.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.149;DP=278;ExcessHet=0;FS=1.678;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=2.05;SOR=0.913	GT:AD:DP:GQ:PL	0/1:52,42:94:99:981,0,1262	5	0	1	0
chr11	118352416	118352416	C	A	exonic	CD3G	.	synonymous SNV	CD3G:NM_000073:exon6:c.C496A:p.R166R	Immunodeficiency 17, CD3 gamma deficient, Autosomal recessive	1	1503	17	1	0	19	0.00628099	.	.	YES	526094	Combined_immunodeficiency_due_to_CD3gamma_deficiency	MONDO:MONDO:0014276,MedGen:C3810107,OMIM:615607,Orphanet:169082	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.0135783	0.0074	0.0004	0.0004	0.0001	0	1.5e-05	0.0044	0.0534	0.0064682	1000	154602	rs201529449	0.0035	0.0035	0.0020	0.0050	0.0557	0.0034	0.0034	0.0544	0.0538	8.962e-05	4.472e-05	0	0.0001	0	0.0026	3.058e-05	0.0042	0.0557	0.0020	0.0020	0.0008	0.0032	0.0615	0.0018	0.0017	0.0557	0.0535	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.007049	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.022727	0.08333	717.83	45	chr11	118352416	.	C	A	717.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.854;DP=307;ExcessHet=0;FS=0.847;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=2.14;SOR=0.833	GT:AD:DP:GQ:PL	0/1:56,32:88:99:728,0,1398	5	0	1	0
chr12	6936728	6936728	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1461_1462insCAGCAG:p.Q502_H503insQQ,ATN1:NM_001940:exon5:c.1461_1462insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	207990	Dentatorubral-pallidoluysian_atrophy|not_specified|not_provided	MONDO:MONDO:0007435,MedGen:C0751781,OMIM:125370,Orphanet:101|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021899	57	26028	rs782630098	0.0613	0.0616	0.0612	0.0614	0.1746	0.0609	0.0608	0.1711	0.1697	0.0200	0.0378	0.0348	0.1746	0.0210	0.0600	0.0613	0.0610	0.0697	0.0485	0.0495	0.0497	0.0473	0.1762	0.0476	0.0472	0.1663	0.1623	0.0228	0.0892	0.0464	0.0376	0.1762	0.0205	0.0243	0.0580	0.0408	0.0697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7250.44	37	chr12	6936728	.	A	ACAGCAG	7250.44	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.401;DP=420;ExcessHet=0.1336;FS=1.101;MLEAC=2;MLEAF=0.167;MQ=59.99;MQRankSum=0;QD=28.21;ReadPosRankSum=0.388;SOR=0.691	GT:AD:DP:GQ:PL	0/1:0,13:41:99:1420,972,989	4	0	2	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	0	177	7	42	0	91	0.204494	.	.	.	778118	Peroxisome_biogenesis_disorder_2B|Rhizomelic_chondrodysplasia_punctata_type_5|not_specified|Peroxisome_biogenesis_disorder_2A_(Zellweger)|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	3196.01	20	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	3196.01	.	AC=11;AF=0.917;AN=12;BaseQRankSum=1.49;DP=279;ExcessHet=0;FS=1.571;MLEAC=11;MLEAF=0.917;MQ=59.26;MQRankSum=-0.836;QD=26.7;ReadPosRankSum=-0.05;SOR=1.134	GT:AD:DP:GQ:PL	1/1:0,9:9:39:429,39,0	0	5	1	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	15	41	80	27	63	197	0.62037	.	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2521.25	35	chr12	21174718	.	T	TA	2521.25	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.503;DP=258;ExcessHet=3.1439;FS=0.717;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=1.24;SOR=0.577	GT:AD:DP:GQ:PL	0/1:4,12:19:15:272,0,32	0	0	6	0
chr12	31090065	31090065	G	A	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon9:c.G1060A:p.G354R,DDX11:NM_001257145:exon9:c.G982A:p.G328R,DDX11:NM_004399:exon9:c.G1060A:p.G354R,DDX11:NM_030653:exon9:c.G1060A:p.G354R,DDX11:NM_152438:exon9:c.G1060A:p.G354R	Warsaw breakage syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1675896	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.663	.	.	0.104034	5.905e-05	0	0	0	0	0	0	0.0001	0.0200169	521	26028	rs71230307	0.0022	0.0338	0.0024	0.0019	0.0027	0.0021	0.0021	0.0026	0.0026	0.0010	9.173e-05	0.0003	0.0004	0.0001	0.0003	0.0027	0.0017	0.0007	9.004e-05	0.0014	9.439e-05	8.545e-05	0.0002	5.314e-05	4.16e-05	4.026e-05	2.682e-05	7.565e-05	0	0	0	0.0002	0.0001	0	9.278e-05	0.0005	0.0002	0.05	0.44029	D	0.004	0.74150	D	1.0	0.90584	D	0.973	0.78936	D	0.000399	0.44960	D	0.224870	0.962849	0.81001	D	.	.	.	-0.49	0.70597	T	-3.69	0.73151	D	0.861	0.85766	-0.0828	0.80492	T	0.471	0.79637	T	10	0.012735605	0.00272	T	.	.	.	0.663	0.87430	0.698	0.83499	0.913261317979	0.91239	0.8464075626334878	0.84601	.	.	0.702727437019	0.67538	T	0.48776	0.81368	T	0.0834363	0.62442	D	-0.117926	0.61973	T	0.969016373157501	0.68442	D	0.775222	0.40735	T	0.678959	0.76913	0.5836855	0.75862	0.678959	0.76914	0.5836855	0.75863	-9.871	0.75554	D	.	.	0.892	0.83892	P	.;.;.;.	.;.;.;.	4.638810	0.73833	26.1	0.9990860106244267	0.97875	0.84487	0.43569	D	AEFBI	0.439166	0.49825	N	0.582356054431838	0.72074	5.748804	0.502344459658018	0.68147	5.180301	0.00113139165221889	0.08261	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.98	3.98	0.45383	4.715000	0.61600	7.263000	0.57966	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.425000	0.27339	0.0:0.0:0.7785:0.2215	8.967	0.35044	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	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	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	36.07	19	chr12	31090065	.	G	A	36.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.91;DP=113;ExcessHet=0.4139;FS=8.432;MLEAC=2;MLEAF=0.167;MQ=36.48;MQRankSum=-1.604;QD=1.09;ReadPosRankSum=0.457;SOR=2.833	GT:AD:DP:GQ:PL	0/1:12,2:14:18:18,0,326	4	0	2	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1043.84	21	chr12	47845054	.	C	A	1043.84	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-0.566;DP=65;ExcessHet=1.181;FS=0;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.72;ReadPosRankSum=-0.816;SOR=0.99	GT:AD:DP:GQ:PL	0/1:6,4:10:96:96,0,152	1	1	3	1
chr12	47879112	47879112	A	G	exonic	VDR	.	startloss	VDR:NM_001374662:exon2:c.T2C:p.M1?,VDR:NM_000376:exon3:c.T2C:p.M1?,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001374661:exon3:c.T2C:p.M1?,VDR:NM_001017535:exon4:c.T2C:p.M1?	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	6	103	520	893	0	2306	0.917994	.	.	YES	331088	Periodontitis|not_provided|not_specified|Vitamin_D-dependent_rickets_type_II_with_alopecia	Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.6732	0.671526	0.6376	0.7880	0.5203	0.5448	0.6403	0.6138	0.6512	0.7671	0.62549	96702	154602	rs2228570	0.6253	0.6253	0.6210	0.6296	0.7904	0.6242	0.6238	0.7824	0.7791	0.7904	0.5345	0.5612	0.5913	0.6341	0.7321	0.6142	0.6362	0.7660	0.6621	0.6625	0.6611	0.6633	0.7801	0.6587	0.6573	0.7730	0.7701	0.7801	0.7368	0.5776	0.5716	0.5697	0.6440	0.6939	0.6163	0.6895	0.7391	0.0	0.91255	D	0.013	0.63109	D	0.289	0.32288	B	0.275	0.40079	B	0.000031	0.55875	D	0.149012	0.989818	0.81001	P	.	.	.	-3.24	0.93882	D	0.36	0.09460	N	0.34	0.38129	-0.9252	0.44829	T	0.000	0.00011	T	8	8.306137e-06	0.00003	T	.	.	.	0.503	0.78538	.	.	.	.	0.3450707945471	0.34421	0.570787460381	0.53228	0.625708281994	0.56536	T	0.324761	0.69555	T	-0.283926	0.10255	T	-0.036796	0.67917	D	0.0963817504551405	0.11954	T	0.9	0.65058	D	0.68792903	0.77399	0.63474244	0.78679	0.6637955	0.76103	0.5718023	0.75203	-7.866	0.60153	D	.	.	0.232	0.46516	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.762546	0.36239	20.2	0.99030006853180141	0.50786	0.91887	0.54478	D	AEFDBI	0.433632	0.49501	N	0.245728946061445	0.53428	3.511683	0.278389843584115	0.54280	3.593452	0.999289017433705	0.39007	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.89	0.32713	4.354000	0.59193	6.099000	0.53531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.8342:0.0:0.1658:0.0	9.950	0.40804	884	0.28482	.;.;.;.;.;.;.	RP1-228P16.1	Spleen	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.734642	0.696970	0.716033	0.745614	0.450000	0.810345	0.768293	0.768939	0.75	7656.7	75	chr12	47879112	.	A	G	7656.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.522;DP=384;ExcessHet=1.383;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=20.69;ReadPosRankSum=-0.318;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1419,132,0	0	3	3	0
chr12	109102005	109102005	G	A	intronic	UNG	.	.	.	Immunodeficiency with hyper IgM, type 5, Autosomal recessive	0	1516	6	0	0	6	0.00197498	0.0004	0.046	.	329059	not_provided|Hyper-IgM_syndrome_type_5|UNG-related_disorder	MedGen:C3661900|MONDO:MONDO:0011971,MedGen:C1720958,OMIM:608106,Orphanet:101092|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0022	0.000798722	0.0018	0.0005	0.0009	0	0	0.0023	0.0033	0.0027	0.0017788	275	154602	rs55812333	0.0020	0.0021	0.0020	0.0021	0.0030	0.0020	0.0020	0.0027	0.0026	0.0003	0.0007	3.827e-05	0	0.0003	0.0019	0.0023	0.0019	0.0030	0.0016	0.0016	0.0016	0.0016	0.0039	0.0014	0.0014	0.0026	0.0021	0.0004	0	0.0031	0	0	0	0	0.0024	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	447.83	39	chr12	109102005	.	G	A	447.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.413;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.087;SOR=0.583	GT:AD:DP:GQ:PL	0/1:26,17:43:99:458,0,720	5	0	1	0
chr12	109798808	109798808	G	A	exonic	TRPV4	.	stopgain	TRPV4:NM_001177428:exon4:c.C817T:p.R273X,TRPV4:NM_001177433:exon4:c.C817T:p.R273X,TRPV4:NM_147204:exon5:c.C958T:p.R320X,TRPV4:NM_001177431:exon6:c.C856T:p.R286X,TRPV4:NM_021625:exon6:c.C958T:p.R320X	Brachyolmia type 3, Autosomal dominant;Digital arthropathy-brachydactyly, familial, Autosomal dominant;Hereditary motor and sensory neuropathy, type IIc, Autosomal dominant;Metatropic dysplasia, Autosomal dominant;Parastremmatic dwarfism, Autosomal dominant;SED, Maroteaux type, Autosomal dominant;Scapuloperoneal spinal muscular atrophy, Autosomal dominant;Spinal muscular atrophy, distal, congenital nonprogressive, Autosomal dominant;Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	462180	not_provided|Scapuloperoneal_spinal_muscular_atrophy|Brachyrachia_(short_spine_dysplasia)|Spondylometaphyseal_dysplasia,_Kozlowski_type|Metatropic_dysplasia|Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_8|Charcot-Marie-Tooth_disease_axonal_type_2C|not_specified|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4|Charcot-Marie-Tooth_disease	MedGen:C3661900|MONDO:MONDO:0008408,MedGen:C0751335,OMIM:181405,Orphanet:431255|MONDO:MONDO:0007232,MedGen:C0432227,OMIM:113500,Orphanet:93304|MONDO:MONDO:0008477,MedGen:C0265280,OMIM:184252,Orphanet:93314|MONDO:MONDO:0007986,MedGen:C0265281,OMIM:156530,Orphanet:2635|MONDO:MONDO:0010839,MedGen:C1838492,OMIM:600175,Orphanet:1216|MONDO:MONDO:0011633,MedGen:C1853710,OMIM:606071,Orphanet:99937|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.946e-05	0	0	0	0	9.002e-05	0	0	3.88e-05	6	154602	rs142902080	9.03e-05	9.029e-05	0.0001	7.425e-05	0.0002	7.756e-05	7.299e-05	9.611e-05	8.958e-05	5.974e-05	2.236e-05	0	0	0	0.0002	0.0001	3.311e-05	1.159e-05	5.257e-05	5.253e-05	8.991e-05	1.345e-05	0.0001	2.557e-05	1.83e-05	4.764e-05	3.338e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.972	0.98563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345987	0.86236	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;.;.	High;High;.;.;.;.	8.328558	0.97435	37	0.99818041780347622	0.90150	0.94139	0.60230	D	AEFDBI	0.169765	0.29662	N	0.541410342778937	0.69559	5.37441	0.270191062622782	0.53806	3.547888	0.00997145105837718	0.11944	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.37	3.45	0.38602	1.880000	0.39263	4.948000	0.46261	0.676000	0.76740	0.623000	0.27939	1.000000	0.68203	0.328000	0.25156	0.0:0.0:0.828:0.172	12.668	0.56217	704	0.57414	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.;.;.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.08333	1258.83	38	chr12	109798808	.	G	A	1258.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.114;DP=302;ExcessHet=0;FS=3.433;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.181;SOR=1.075	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1269,0,1561	5	0	1	0
chr12	114684071	114684071	-	GAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTC;NM_005996:c.-872_-871insTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	183	10	1	20	12	53	0.672131	.	.	.	329647	Ulnar-mammary_syndrome|not_provided|TBX3-related_disorder	MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.531749	.	.	.	.	.	.	.	.	0.000461	12	26028	rs112192237	0.3711	0.0814	0.3707	0.3715	0.4265	0.3674	0.3658	0.4036	0.3945	0.1648	0.4265	0.4241	0.3475	0.3793	0.4067	0.3834	0.3747	0.3964	0.4430	0.4427	0.4419	0.4441	0.6223	0.4401	0.4390	0.6117	0.6074	0.1855	0.3440	0.6223	0.6177	0.4456	0.4555	0.6092	0.5353	0.5029	0.5668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	554.49	7	chr12	114684071	.	G	GGAGA	554.49	.	AC=5;AF=0.625;AN=8;BaseQRankSum=0.366;DP=16;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=28.48;ReadPosRankSum=-1.465;SOR=0.223	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0	1	2	1	2
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.6667	7616.62	100	chr12	120978819	.	C	G	7616.62	.	AC=8;AF=0.667;AN=12;BaseQRankSum=2.53;DP=356;ExcessHet=0.1336;FS=0;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=0.708;SOR=0.671	GT:AD:DP:GQ:PL	0/1:24,20:44:99:573,0,594	1	3	2	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	363	726	432	0	1590	0.686528	0	0.002	.	134677	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.6667	15878.6	128	chr12	120997672	.	G	A	15878.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.05;DP=694;ExcessHet=0.1336;FS=1.426;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.58;ReadPosRankSum=1.25;SOR=0.665	GT:AD:DP:GQ:PL	0/1:58,36:94:99:859,0,1486	1	3	2	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1700.48	29	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	1700.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.02;DP=197;ExcessHet=6.1542;FS=1.619;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.939;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,8:17:99:.:.:300,0,317:.	1	0	5	0
chr14	23389063	23389063	G	-	intronic	MYH6	.	.	.	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	.	.	.	.	.	.	.	.	.	.	45290	Hypertrophic_cardiomyopathy_2|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy_14|Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|MedGen:CN239310|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4104	0.6267	0.3795	0.4432	0.3604	0.3688	0.3815	0.4476	0.0001537	4	26028	rs1064795889	0.3084	0.3121	0.3093	0.3074	0.6162	0.3074	0.3071	0.6088	0.6057	0.6162	0.2497	0.2666	0.2601	0.2543	0.3139	0.2981	0.3229	0.3503	0.3533	0.3351	0.3610	0.3452	0.6120	0.3504	0.3492	0.6055	0.6028	0.6120	0.3180	0.2356	0.2344	0.1573	0.1787	0.2645	0.2170	0.3369	0.3167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	860.21	42	chr14	23389062	.	AG	A	860.21	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.95;DP=218;ExcessHet=0.4139;FS=1.092;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.39;SOR=0.963	GT:AD:DP:GQ:PL	0/1:4,16:20:50:399,0,50	4	0	2	0
chr14	61740839	61740839	C	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon12:c.C1816T:p.P606S,HIF1A:NM_001530:exon12:c.C1744T:p.P582S,HIF1A:NM_181054:exon12:c.C1744T:p.P582S	.	426	797	258	41	0	340	0.175801	.	.	.	2736349	Cholangiocarcinoma|not_provided	Human_Phenotype_Ontology:HP:0030153,MONDO:MONDO:0019087,MeSH:D018281,MedGen:C0206698,Orphanet:70567|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.249	.	0.0877	0.0730831	0.0897	0.0381	0.0636	0.0437	0.0416	0.1068	0.1002	0.1139	0.0896301	13857	154602	rs11549465	0.0973	0.0973	0.0962	0.0983	0.1978	0.0968	0.0967	0.1883	0.1844	0.0355	0.0652	0.1605	0.0484	0.0413	0.1978	0.1014	0.1054	0.1100	0.0781	0.0782	0.0804	0.0757	0.1157	0.0769	0.0764	0.1077	0.1046	0.0361	0.1305	0.0843	0.1509	0.0481	0.0358	0.1599	0.1032	0.0970	0.1157	0.15	0.26300	T	0.107	0.37730	T	0.243	0.36725	B	0.225	0.42306	B	0.000163	0.48594	D	0.218644	0.004354	0.42787	P	0.2	0.09183	N	-1.98	0.85247	D	-3.12	0.67705	D	0.061	0.03502	-0.7937	0.55514	T	0.014	0.05561	T	9	0.002049476	0.00029	T	.	.	.	0.249	0.55752	.	.	.	.	0.2703759875243241	0.26950	0.18754449635	0.21074	0.613483905792	0.54808	T	0.791418	0.94585	D	-0.487373	0.00672	T	-0.386001	0.35020	T	0.0528159558020239	0.05987	T	0.89801	0.64352	D	0.20964694	0.43238	0.16643055	0.38449	0.20964694	0.43238	0.16643055	0.38448	-7.11	0.54832	T	.	.	0.105	0.27373	B	.;.;.;.;.	.;.;.;.;.	2.583508	0.33503	19.36	0.99454245710225975	0.65427	0.89101	0.49367	D	AEFDGBCI	0.388942	0.46836	N	-0.0795620720085574	0.38289	2.240306	0.0864541640548502	0.43865	2.679561	0.999999994130304	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	4.82	0.61641	2.789000	0.47504	3.324000	0.37570	0.594000	0.32500	0.799000	0.29708	1.000000	0.68203	0.997000	0.79791	0.1422:0.788:0.0:0.0698	9.682	0.39239	682	0.59757	.;.;.;.;.	FLJ22447|FLJ22447	Lung|Muscle_Skeletal	.	.	rs11549465	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.164653	0.121212	0.160326	0.228070	0.350000	0.232759	0.155488	0.143939	0.1667	2781.06	127	chr14	61740839	.	C	T	2781.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.909;DP=456;ExcessHet=0.4139;FS=1.434;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.945;SOR=0.606	GT:AD:DP:GQ:PL	0/1:100,75:175:99:1885,0,2537	4	0	2	0
chr14	64786950	64786950	G	A	exonic	SPTB	.	synonymous SNV	SPTB:NM_001024858:exon15:c.C3015T:p.A1005A,SPTB:NM_001355436:exon16:c.C3015T:p.A1005A,SPTB:NM_001355437:exon16:c.C3015T:p.A1005A	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	0	1507	15	0	0	15	0.00495213	.	.	.	255020	not_specified|Elliptocytosis|Spherocytosis,_Dominant|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:CN239455|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0009	0.00139776	0.0012	0.0002	0.0010	0	0	0.0013	0.0022	0.0028	0.0012484	193	154602	rs147235045	0.0016	0.0016	0.0015	0.0016	0.0035	0.0015	0.0015	0.0029	0.0028	0.0003	0.0006	0.0017	2.519e-05	0	0.0035	0.0016	0.0016	0.0032	0.0011	0.0011	0.0011	0.0010	0.0027	0.0009	0.0009	0.0016	0.0013	0.0003	0	0.0016	0.0017	0	0	0.0034	0.0015	0.0009	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.003024	0.000000	0.001359	0.002924	0.000000	0.017241	0.003049	0.000000	0.08333	1790.83	36	chr14	64786950	.	G	A	1790.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.94;DP=288;ExcessHet=0;FS=5.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.046;SOR=0.548	GT:AD:DP:GQ:PL	0/1:44,55:99:99:1801,0,1142	5	0	1	0
chr14	74511307	74511307	G	C	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon19:c.C2966G:p.P989R	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	37	2	0	41	0.0136349	.	.	.	702986	not_provided|Weill-Marchesani_syndrome|Glaucoma_3,_primary_congenital,_D	MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.0011	0.00559105	0.0055	0.0002	0.0018	0.0002	0.0002	0.0021	0.0122	0.0300	0.0049094	759	154602	rs76172717	0.0034	0.0034	0.0026	0.0043	0.0294	0.0034	0.0033	0.0284	0.0280	0.0004	0.0028	0.0041	0.0001	7.497e-05	0.0111	0.0017	0.0039	0.0294	0.0025	0.0025	0.0018	0.0031	0.0232	0.0022	0.0022	0.0197	0.0184	0.0004	0	0.0059	0.0052	0.0004	9.411e-05	0.0170	0.0018	0.0028	0.0232	0.025	0.47320	D	0.03	0.54159	D	0.953	0.54283	P	0.895	0.63489	P	0.017802	0.27632	N	0.173155	0.744398	0.33858	D	1.955	0.52871	M	-2.9	0.91643	D	-6.92	0.93366	D	0.465	0.55799	0.416	0.89333	D	0.803	0.93326	D	10	0.010016173	0.00224	T	.	.	.	0.503	0.78538	.	.	0.859434438275	0.85807	0.5135926169408016	0.51281	0.565440799471	0.52883	0.484133929014	0.36627	T	0.783003	0.94289	D	-0.230146	0.16629	T	-0.0810524	0.64827	T	0.0762015710983203	0.09494	T	0.887511	0.62412	D	0.2485262	0.47839	0.26377156	0.52187	0.2298873	0.45733	0.26377156	0.52186	-9.346	0.69896	D	.	.	0.093	0.13923	B	.;.	.;.	4.090586	0.60914	24.3	0.99823361191097992	0.90590	0.68807	0.33942	D	AEFGBI	0.224743	0.34893	N	0.145442281603709	0.48597	3.069959	0.0987253262848525	0.44484	2.729357	0.999999962438133	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.36	4.47	0.53770	2.161000	0.41985	11.820000	0.97208	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.979000	0.57723	0.1594:0.0:0.8406:0.0	9.942	0.40754	259	0.89842	EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like 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	0.015106	0.000000	0.013587	0.020468	0.050000	0.000000	0.006098	0.026515	0.08333	928.83	35	chr14	74511307	.	G	C	928.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.903;DP=262;ExcessHet=0;FS=1.762;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.085;SOR=0.968	GT:AD:DP:GQ:PL	0/1:46,41:87:99:939,0,1294	5	0	1	0
chr14	104689739	104689739	G	A	UTR5	INF2	NM_032714:c.-11627G>A;NM_001031714:c.-11627G>A;NM_022489:c.-11627G>A	.	.	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	1130	359	21	12	0	45	0.0589777	0.7393	0.666	.	328746	not_specified|Charcot-Marie-Tooth_disease_dominant_intermediate_E|Focal_segmental_glomerulosclerosis_5	MedGen:CN169374|MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114|MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0467252	.	.	.	.	.	.	.	.	0.0651606	1696	26028	rs115602636	0.0773	0.0456	0.0764	0.0782	0.0964	0.0768	0.0766	0.0841	0.0820	0.0139	0.0467	0.1050	0.0129	0.0647	0.0964	0.0784	0.0783	0.0873	0.0587	0.0588	0.0601	0.0572	0.0844	0.0577	0.0573	0.0818	0.0811	0.0179	0.0702	0.0597	0.1066	0.0134	0.0468	0.1069	0.0837	0.0706	0.0844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	32.56	2	chr14	104689739	.	G	A	32.56	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:33:40,0,33	3	0	1	2
chr14	104707526	104707531	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1259_1264del:p.P427_P428del,INF2:NM_022489:exon8:c.1259_1264del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	.	.	.	.	.	.	.	.	.	335402	Focal_segmental_glomerulosclerosis|not_provided|not_specified	Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0210	.	0.0865	0.0332	0.0538	0.0084	0	0.0878	0.1077	0.0921	0.0013063	34	26028	rs775646511	0.0829	0.0766	0.0815	0.0844	0.1200	0.0825	0.0823	0.1107	0.1070	0.0659	0.0562	0.1174	0.0148	0.0608	0.1200	0.0856	0.0913	0.0790	0.0600	0.0698	0.0625	0.0573	0.0723	0.0589	0.0584	0.0705	0.0697	0.0477	0.0566	0.0530	0.1011	0.0083	0.0377	0.0756	0.0723	0.0676	0.0603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3307.33	28	chr14	104707525	.	ACCCCAC	A	3307.33	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.92;DP=312;ExcessHet=0.7136;FS=2.505;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=30.48;ReadPosRankSum=0.58;SOR=1.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,11:12:7:.:.:451,0,7:.	3	0	3	0
chr14	104709620	104709620	A	G	exonic	INF2	.	nonsynonymous SNV	INF2:NM_001031714:exon12:c.A2053G:p.I685V,INF2:NM_022489:exon12:c.A2053G:p.I685V	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	0	1505	16	1	0	18	0.00594452	0	0.008	.	320228	Focal_segmental_glomerulosclerosis_5|Charcot-Marie-Tooth_disease_dominant_intermediate_E|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656|MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.025	0.013117265279	8.3e-05	.	0.0002	0	0.0003	0	0	0.0002	0.0011	0.0002	0.0001682	26	154602	rs199526439	0.0003	0.0003	0.0002	0.0003	0.0120	0.0002	0.0002	0.0097	0.0089	0.0006	0.0002	0.0001	0	0	0.0120	0.0002	0.0007	0.0004	0.0002	0.0002	0.0002	0.0003	0.0004	0.0001	0.0001	0.0002	0.0001	2.406e-05	0	0.0004	0	0	0	0.0238	0.0002	0.0005	0.0004	0.325	0.14694	T	0.16	0.31427	T	0.047	0.22967	B	0.02	0.22546	B	0.000091	0.51296	U	0.127551	0.914351	0.36497	D	0.835	0.21042	L	2.35	0.16217	T	-0.52	0.19933	N	0.125	0.11769	-1.0284	0.20973	T	0.027	0.11707	T	9	0.04631102	0.03807	T	0.013117	0.32271	T	0.025	0.05312	.	.	0.193917141947	0.19028	0.2804306880011572	0.27956	0.206038772455	0.23027	0.381326824427	0.22445	T	0.031427	0.22039	T	-0.497721	0.00589	T	-0.655159	0.08596	T	0.00993273182115023	0.00132	T	0.754325	0.43953	T	0.02905946	0.02339	0.029722253	0.01343	0.02905946	0.02339	0.029722253	0.01343	-5.963	0.45969	T	0.3326147830562283	0.43060	0.080	0.11124	B	.;.;.	.;.;.	0.963761	0.13404	9.911	0.51470064624187606	0.04569	0.83380	0.42501	D	AEFDBCI	0.239344	0.36132	N	-0.60452852861894	0.18807	0.9794055	-0.586645354771787	0.19841	1.066342	0.999586847085766	0.40607	0.67177	0.52595	0	0.643519	0.57511	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.17	1.79	0.23992	0.701000	0.25293	2.078000	0.30479	0.756000	0.94297	0.219000	0.24524	0.995000	0.32472	0.724000	0.34901	0.707:0.0:0.293:0.0	6.511	0.21419	957	0.09725	.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 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	0.011581	0.010101	0.017663	0.023392	0.000000	0.008621	0.000000	0.000000	0.08333	497.83	34	chr14	104709620	.	A	G	497.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.429;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.335;SOR=0.569	GT:AD:DP:GQ:PL	0/1:28,20:48:99:508,0,760	5	0	1	0
chr15	23647105	23647134	GGAGGATGAGCCATCGGTGTCCCCGGAGGG	-	exonic	MAGEL2	.	nonframeshift deletion	MAGEL2:NM_019066:exon1:c.609_638del:p.H221_A230del	Schaaf-Yang syndrome, Autosomal dominant	2	1505	6	0	9	15	0.00198939	.	.	.	2092358	Inborn_genetic_diseases|Schaaf-Yang_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014243,MedGen:C5575066,OMIM:615547,Orphanet:398069|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0	1.29e-05	2	154602	rs758291032	0.0003	0.0003	0.0002	0.0003	0.0023	0.0003	0.0002	0.0013	0.0010	0.0004	0.0005	0.0010	0.0004	0	0.0023	0.0002	0.0007	0.0008	0.0007	0.0007	0.0008	0.0006	0.0011	0.0006	0.0005	0.0006	0.0005	0.0008	0	0.0010	0.0026	0.0011	0	0.0055	0.0005	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	480.79	35	chr15	23647104	.	TGGAGGATGAGCCATCGGTGTCCCCGGAGGG	T	480.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.53;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.72;MQRankSum=-1.212;QD=12.33;ReadPosRankSum=1.7;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,15:39:99:0|1:23647104_TGGAGGATGAGCCATCGGTGTCCCCGGAGGG_T:491,0,822:23647104	5	0	1	0
chr15	34791308	34791311	CACA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322319	Cardiovascular_phenotype|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.244808	.	.	.	.	.	.	.	.	0.0038036	99	26028	rs572654192	0.0856	0.1084	0.0840	0.0873	0.0998	0.0852	0.0850	0.0966	0.0953	0.0998	0.0810	0.1028	0.0190	0.1503	0.0970	0.0833	0.0926	0.0968	0.1173	0.1181	0.1162	0.1185	0.1258	0.1158	0.1151	0.1191	0.1182	0.1072	0.0878	0.1032	0.1344	0.0167	0.1954	0.1007	0.1214	0.1224	0.1258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	9882.16	63	chr15	34791307	.	TCACA	T	9882.16	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.927;DP=713;ExcessHet=0;FS=3.472;MLEAC=3;MLEAF=0.25;MQ=59.99;MQRankSum=0;QD=33.05;ReadPosRankSum=0.782;SOR=0.968	GT:AD:DP:GQ:PL	0/1:0,22:68:99:2475,1529,1456	3	0	3	0
chr15	44564675	44564675	G	A	exonic	SPG11	.	synonymous SNV	SPG11:NM_001160227:exon37:c.C6684T:p.Y2228Y,SPG11:NM_025137:exon39:c.C7023T:p.Y2341Y	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	1	1381	130	10	0	150	0.051511	.	.	YES	49781	Hereditary_spastic_paraplegia_11|not_specified|Hereditary_spastic_paraplegia	MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0219	0.0117812	0.0201	0.0044	0.0163	0.0002	0.0029	0.0285	0.0277	0.0159	0.0208794	3228	154602	rs80338869	0.0265	0.0265	0.0265	0.0265	0.0466	0.0263	0.0262	0.0421	0.0403	0.0045	0.0202	0.0316	7.559e-05	0.0055	0.0466	0.0298	0.0277	0.0176	0.0189	0.0189	0.0202	0.0176	0.0286	0.0183	0.0181	0.0275	0.0271	0.0052	0.0164	0.0265	0.0294	0.0002	0.0039	0.0306	0.0286	0.0222	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.043851	0.025253	0.057065	0.055556	0.000000	0.017241	0.030675	0.045455	0.08333	307.83	35	chr15	44564675	.	G	A	307.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.55;DP=204;ExcessHet=0;FS=1.384;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.847;SOR=0.976	GT:AD:DP:GQ:PL	0/1:22,12:34:99:318,0,573	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	18492.6	99	chr15	59256276	.	C	T	18492.6	.	AC=12;AF=1;AN=12;DP=654;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=28.49;SOR=0.998	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2715,285,0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1472.76	5	chr15	68207979	.	GACAC	G	1472.76	.	AC=7;AF=0.583;AN=12;BaseQRankSum=0.045;DP=46;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=22.1;ReadPosRankSum=1.61;SOR=1.329	GT:AD:DP:GQ:PL	1/0:0,2:6:72:213,140,162	1	2	3	0
chr15	68207979	68207979	-	AC	UTR3	CLN6	NM_017882:c.*160_*161insGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323238	not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive	MedGen:C3661900|MedGen:CN239323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.334465	.	.	.	.	.	.	.	.	0.0030352	79	26028	rs138882836	0.3617	0.3201	0.3572	0.3657	0.5137	0.3603	0.3597	0.5067	0.5038	0.1449	0.3834	0.3623	0.5137	0.3802	0.3685	0.3407	0.3479	0.4469	0.3749	0.3760	0.3645	0.3859	0.7752	0.3723	0.3712	0.7549	0.7466	0.1625	0.5408	0.4370	0.4553	0.7752	0.4773	0.4041	0.4204	0.3920	0.6213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1472.76	5	chr15	68207979	.	G	GAC	1472.76	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.045;DP=46;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=22.1;ReadPosRankSum=1.61;SOR=1.329	GT:AD:DP:GQ:PL	0/1:0,4:6:72:213,84,72	2	0	4	0
chr15	76753800	76753800	T	C	intronic	SCAPER	.	.	.	.	66	1398	50	8	0	66	0.0230608	0.0002	0.038	.	3191647	Retinal_dystrophy|SCAPER-related_disorder	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|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0147	0.00419329	0.0111	0.0043	0.0059	0.0001	0.0055	0.0153	0.0101	0.0101	0.0113453	1754	154602	rs139187840	0.0165	0.0165	0.0166	0.0164	0.0193	0.0163	0.0163	0.0190	0.0190	0.0024	0.0065	0.0062	5.051e-05	0.0050	0.0165	0.0193	0.0154	0.0099	0.0111	0.0111	0.0124	0.0098	0.0183	0.0107	0.0105	0.0174	0.0171	0.0034	0.0197	0.0096	0.0092	0	0.0045	0.0136	0.0183	0.0118	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1060.83	34	chr15	76753800	.	T	C	1060.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.372;DP=239;ExcessHet=0;FS=1.041;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=0.565;SOR=0.47	GT:AD:DP:GQ:PL	0/1:23,43:66:99:1071,0,584	5	0	1	0
chr15	82538982	82538982	A	G	exonic	RPS17	.	synonymous SNV	RPS17:NM_001021:exon3:c.T159C:p.Y53Y	Diamond-Blackfan anemia 4, Autosomal dominant	21	707	596	198	0	992	0.412303	.	.	YES	409353	Diamond-Blackfan_anemia|not_specified	Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6991	0.3098	0.3099	0.3048	0.3149	0.4205	0.3091	0.3088	0.4169	0.4154	0.1579	0.1629	0.3116	0.2790	0.3769	0.3362	0.3093	0.3116	0.4205	0.2641	0.2643	0.2614	0.2669	0.4165	0.2619	0.2610	0.4013	0.3951	0.1651	0.3936	0.2043	0.2966	0.2364	0.3693	0.3605	0.3087	0.2768	0.4165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.5	6869.51	33	chr15	82538982	.	A	G	6869.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.642;DP=390;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=1.34;SOR=0.668	GT:AD:DP:GQ:PL	0/1:31,33:64:99:811,0,849	2	2	2	0
chr15	99973383	99973388	TGGGCT	-	UTR3	ADAMTS17	NM_139057:c.*1019_*1014delAGCCCA	.	.	Weill-Marchesani-like syndrome, Autosomal recessive	1266	160	13	83	0	179	0.358717	.	.	.	340315	not_provided|Weill-Marchesani_4_syndrome,_recessive	MedGen:C3661900|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.58726	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs11277519	0.5667	0.0244	0.3750	0.6364	1.0000	0.3611	0.2965	0.2935	0.2192	1.0000	.	0.5000	.	0.5000	.	0.5625	0.5000	.	0.6338	0.6351	0.6333	0.6342	0.6580	0.6304	0.6290	0.6529	0.6507	0.6083	0.6834	0.5772	0.6358	0.5174	0.7472	0.5310	0.6580	0.5885	0.5808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	209.57	2	chr15	99973382	.	CTGGGCT	C	209.57	.	AC=4;AF=0.5;AN=8;DP=9;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;QD=34.47;SOR=1.981	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	2	2	0	2
chr16	3583210	3583210	C	A	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon14:c.G5040T:p.R1680S	Fanconi anemia, complementation group P, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	985339	Fanconi_anemia_complementation_group_P|Fanconi_anemia	MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	0.076486118063	.	.	0.0001	0	0	0	0	4.495e-05	0	0.0008	0.00011	17	154602	rs199592185	6.977e-05	6.977e-05	3.267e-05	0.0001	0.0017	5.846e-05	5.457e-05	0.0009	0.0007	0	0	0	0	0	0.0017	1.888e-05	0.0001	0.0007	8.537e-05	8.53e-05	6.425e-05	0.0001	0.0012	4.954e-05	3.961e-05	0.0005	0.0004	4.81e-05	0	6.54e-05	0	0	0	0	4.411e-05	0.0005	0.0012	0.564	0.06302	T	0.752	0.04772	T	0.223	0.30377	B	0.024	0.20255	B	0.002156	0.00863	N	3.240280	1	0.08975	N	0.895	0.22405	L	5.3	0.01093	T	-0.28	0.11547	N	0.124	0.11626	-0.9317	0.43889	T	0.003	0.00800	T	10	0.017328382	0.00369	T	0.076486	0.72544	D	0.072	0.21020	0.23	0.15705	0.0611884634855	0.05136	0.19921265212138792	0.19838	0.061787928436	0.06879	0.185387313366	0.00154	T	0.025436	0.19020	T	-0.531422	0.00377	T	-0.636965	0.09891	T	0.0362832247252377	0.03030	T	0.40306	0.10319	T	0.101433314	0.23959	0.039252494	0.03975	0.101433314	0.23959	0.039252494	0.03975	-1.767	0.02412	T	.	.	0.175	0.38281	B	.	.	0.084879	0.04899	1.482	0.91676041476106818	0.20967	0.21132	0.21293	N	AEFDBI	0.094389	0.19085	N	-1.1310822583477	0.06097	0.2797519	-1.14170732500381	0.06918	0.3346367	0.253219302216024	0.18702	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.98	-0.564	0.11185	-0.372000	0.07559	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.5944:0.1232:0.2823	6.533	0.21537	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1525.09	90	chr16	3583210	.	C	A	1525.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=282;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.61;SOR=0.645	GT:AD:DP:GQ:PL	0/1:29,20:49:99:486,0,745	5	0	1	0
chr16	3727885	3727885	C	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon30:c.G7048A:p.A2350T,CREBBP:NM_004380:exon31:c.G7162A:p.A2388T	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	578530	Inborn_genetic_diseases|Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.374	0.0109225825308	.	.	1.656e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs756011865	1.985e-05	2.121e-05	2.043e-05	1.926e-05	0.0005	1.393e-05	1.204e-05	0.0001	7.544e-05	0	0	0	2.52e-05	0	0.0005	8.097e-06	0.0001	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.511	0.10930	T	0.702	0.41889	P	0.067	0.27542	B	0.000001	0.84330	D	0.000000	0.999342	0.46733	D	0.805	0.20218	L	-1.73	0.83327	D	-1.07	0.28497	N	0.28	0.51226	-0.5584	0.66465	T	0.280	0.65199	T	10	0.24583763	0.41838	T	0.010923	0.28000	T	0.374	0.69273	0.233	0.16155	0.827118703706	0.82548	0.18796383770417247	0.18714	0.368016935598	0.38361	0.73094445467	0.71644	T	0.394697	0.75377	T	-0.0366975	0.46437	T	-0.108962	0.62694	T	0.295550346374512	0.24820	T	0.744226	0.36463	T	0.11158837	0.26369	0.13188466	0.31660	0.11158837	0.26369	0.13188466	0.31660	-3.989	0.23639	T	.	.	0.178	0.38853	B	.;.	.;.	4.033945	0.59668	24.1	0.94209520530980817	0.24450	0.95566	0.65232	D	AEFDGBCI	0.641922	0.61908	D	0.0401985156919138	0.43693	2.657251	0.166385397579493	0.48016	3.023437	0.998722609921002	0.37539	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.35	4.38	0.52019	6.054000	0.70719	.	.	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.977000	0.56843	0.1466:0.8534:0.0:0.0	14.639	0.68310	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	2104.83	37	chr16	3727885	.	C	T	2104.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.432;DP=464;ExcessHet=0;FS=0.566;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.199;SOR=0.604	GT:AD:DP:GQ:PL	0/1:99,83:182:99:2115,0,2641	5	0	1	0
chr16	15725134	15725134	-	A	UTR3	NDE1	NM_001143979:c.*883_*884insA;NM_017668:c.*883_*884insA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	324437	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs757597336	0.1707	0.1347	0.1695	0.1717	0.2049	0.1696	0.1691	0.2010	0.1994	0.1259	0.1616	0.1633	0.1415	0.1620	0.1554	0.1727	0.1654	0.2049	0.0641	0.0652	0.0636	0.0646	0.1044	0.0629	0.0625	0.1016	0.1005	0.1044	0.1014	0.0466	0.0431	0.0185	0.0385	0.0296	0.0487	0.0662	0.0833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	617.23	110	chr16	15725134	.	T	TA	617.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.582;DP=661;ExcessHet=3.1439;FS=1.266;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=-0.038;SOR=0.572	GT:AD:DP:GQ:PL	0/1:75,15:97:64:64,0,1548	2	0	4	0
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	637.48	24	chr16	23445969	.	TA	T	637.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.502;DP=197;ExcessHet=6.1542;FS=1.649;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=0.033;SOR=0.89	GT:AD:DP:GQ:PL	0/1:4,8:12:56:121,0,56	1	0	5	0
chr16	50722629	50722629	G	C	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon7:c.G2641C:p.G881R,NOD2:NM_001370466:exon8:c.G2641C:p.G881R,NOD2:NM_022162:exon8:c.G2722C:p.G908R	Blau syndrome, Autosomal dominant	0	1447	69	3	3	78	0.025261	.	.	.	19731	Inflammatory_bowel_disease_1|Blau_syndrome|not_provided|not_specified|Regional_enteritis|Psoriatic_arthritis,_susceptibility_to|Yao_syndrome|Autoinflammatory_syndrome	MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MedGen:C3661900|MedGen:CN169374|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0100232,MedGen:C1835223,OMIM:607507|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|association	.	.	.	.	.	.	.	.	0.108	.	0.0102	0.00459265	0.0099	0.0013	0.0071	0	0.0026	0.0141	0.0154	0.0083	0.0096894	1498	154602	rs2066845	0.0131	0.0132	0.0130	0.0133	0.0380	0.0130	0.0129	0.0338	0.0323	0.0023	0.0085	0.0423	5.038e-05	0.0029	0.0380	0.0141	0.0135	0.0091	0.0103	0.0104	0.0106	0.0100	0.0147	0.0099	0.0097	0.0139	0.0136	0.0027	0.0022	0.0138	0.0432	0	0.0025	0.0238	0.0147	0.0161	0.0062	0.0	0.91255	D	0.008	0.67890	D	0.998	0.90584	D	0.986	0.76916	D	0.000329	0.45700	D	0.137455	0.999972	0.53665	D	0.985	0.24966	L	0.57	0.54347	T	-5.82	0.88289	D	0.748	0.74735	-0.6961	0.60624	T	0.138	0.45508	T	10	0.010364234	0.00231	T	.	.	.	0.343	0.66488	.	.	.	.	0.5552220685344174	0.55449	0.543973793006	0.51462	0.639326453209	0.58468	T	0.246023	0.61542	T	-0.0755688	0.40431	T	0.135594	0.79259	D	0.0287640030574061	0.01801	T	0.768023	0.39669	T	0.8308712	0.85963	0.8893869	0.94223	0.8272104	0.85711	0.89788145	0.94825	-7.639	0.58582	D	0.7701228907073245	0.85119	0.742	0.79764	P	.;.	.;.	4.687193	0.75062	26.3	0.99930967160495277	0.99387	0.93656	0.58818	D	AEFBI	0.678290	0.64270	D	0.773275856692237	0.84410	8.280031	0.780502591572662	0.88404	9.570225	0.999942795872936	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.91	5.91	0.95240	4.498000	0.60095	9.841000	0.81924	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.796	0.78185	679	0.60090	.;.	RP11-327F22.1|RP11-327F22.1|RP11-327F22.1|RP11-327F22.1|RP11-327F22.1	Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Lung|Thyroid	.	.	rs2066845	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	.	.	.	.	.	.	.	.	0.08333	744.83	34	chr16	50722629	.	G	C	744.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.966;DP=260;ExcessHet=0;FS=1.802;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.353;SOR=0.515	GT:AD:DP:GQ:PL	0/1:46,35:81:99:755,0,1254	5	0	1	0
chr16	75540054	75540054	C	T	exonic	TMEM231	.	synonymous SNV	TMEM231:NM_001077416:exon6:c.G1050A:p.V350V,TMEM231:NM_001077418:exon7:c.G891A:p.V297V	Joubert syndrome 20, Autosomal recessive;Meckel syndrome 11, Autosomal recessive	9	1437	70	6	0	82	0.0277402	.	.	.	208303	Joubert_syndrome_20|Meckel_syndrome,_type_11|not_specified	MONDO:MONDO:0013994,MedGen:C3554235,OMIM:614970,Orphanet:475|MONDO:MONDO:0014164,MedGen:C3809352,OMIM:615397,Orphanet:564|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0036	0.00539137	0.0087	0.0006	0.0044	0.0001	0.0029	0.0075	0.0114	0.0282	0.0078265	1210	154602	rs149888762	0.0059	0.0059	0.0050	0.0067	0.0290	0.0058	0.0057	0.0281	0.0277	0.0012	0.0032	0.0059	0.0002	0.0030	0.0257	0.0046	0.0056	0.0290	0.0045	0.0046	0.0041	0.0050	0.0261	0.0043	0.0042	0.0224	0.0210	0.0009	0.0351	0.0033	0.0043	0	0.0030	0.0442	0.0055	0.0062	0.0261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.026694	0.015625	0.028610	0.035503	0.100000	0.025862	0.018987	0.027344	0.08333	1290.83	34	chr16	75540054	.	C	T	1290.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.132;DP=292;ExcessHet=0;FS=3.57;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.479;SOR=1.046	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1301,0,1687	5	0	1	0
chr16	88733965	88733967	TCC	-	exonic	PIEZO1	.	nonframeshift deletion	PIEZO1:NM_001142864:exon17:c.2268_2270del:p.E756del	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	433813	not_provided|Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema|Lymphatic_malformation_6|not_specified	MedGen:C3661900|MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843,Orphanet:568062|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0511182	0.0645	0.1829	0.0333	0.0288	0	0.0300	0.0794	0.0764	0.0001537	4	26028	rs572934641	0.0072	0.0244	0.0076	0.0069	0.1732	0.0071	0.0071	0.1693	0.1677	0.1732	0.0158	0.0046	0.0029	0.0033	0.0083	0.0023	0.0131	0.0058	0.0477	0.0480	0.0495	0.0458	0.1662	0.0468	0.0464	0.1629	0.1616	0.1662	0	0.0151	0	0.0008	9.56e-05	0.0102	0.0006	0.0335	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	709.79	45	chr16	88733964	.	GTCC	G	709.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.243;DP=282;ExcessHet=0;FS=2.449;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.964;SOR=1.14	GT:AD:DP:GQ:PL	0/1:29,21:50:99:720,0,1046	5	0	1	0
chr16	89738666	89738666	C	T	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon43:c.G4303A:p.A1435T	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	401897	Fanconi_anemia|Fanconi_anemia_complementation_group_A|FANCA-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.341	0.0935076874281	0.0021	0.00159744	0.0006	0.0067	0.0002	0	0	3.05e-05	0	0	0.0005563	86	154602	rs74977201	0.0002	0.0002	0.0002	0.0002	0.0063	0.0002	0.0002	0.0056	0.0053	0.0063	6.708e-05	0	0	0	0	1.619e-05	0.0004	4.64e-05	0.0016	0.0016	0.0018	0.0015	0.0057	0.0015	0.0014	0.0051	0.0049	0.0057	0	0.0003	0	0	0	0	1.471e-05	0.0014	0	0.097	0.32296	T	0.124	0.92824	T	1.0	0.90584	D	0.945	0.68163	D	0.000010	0.62929	D	0.000000	0.940033	0.81001	D	2.67	0.78151	M	-2.17	0.86624	D	-2.18	0.66325	N	0.271	0.30687	0.356	0.88424	D	0.658	0.88129	D	10	0.009534687	0.00215	T	0.093508	0.76086	D	0.341	0.66297	.	.	0.904755610982	0.90380	0.38304136491002155	0.38219	.	.	0.350126087666	0.17940	T	0.216051	0.57811	T	-0.23734	0.15689	T	-0.111364	0.62503	T	0.0424857242516685	0.04143	T	0.666633	0.29327	T	0.10011333	0.23634	0.14011632	0.33410	0.09844657	0.23221	0.1438917	0.34180	-6.077	0.46919	T	.	.	0.114	0.43213	B	.;.	.;.	2.748881	0.36028	20.1	0.99892745310805076	0.96666	0.95581	0.65294	D	AEFDBHCI	0.168110	0.29484	N	0.484559747137541	0.66187	4.91794	0.409207339228958	0.62139	4.42428	0.999999167165018	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.4	5.4	0.77957	1.671000	0.37129	1.773000	0.28651	0.599000	0.40250	0.904000	0.31524	0.926000	0.28431	0.038000	0.14061	0.0:0.9164:0.0:0.0836	11.766	0.51202	698	0.58074	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1423.83	34	chr16	89738666	.	C	T	1423.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.405;DP=266;ExcessHet=0;FS=4.637;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0.738;SOR=0.3	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1434,0,1345	5	0	1	0
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	50	1018	318	136	0	590	0.224676	.	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	331.06	9	chr16	89816740	.	A	AGGCCTTGCGTCGT	331.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.272;DP=66;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.47;ReadPosRankSum=0.464;SOR=0.223	GT:AD:DP:GQ:PL	0/1:3,5:8:99:193,0,111	4	0	2	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	84.69	81	chr17	3648932	.	G	C	84.69	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.569;DP=463;ExcessHet=1.383;FS=322.385;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=-0.181;SOR=10.408	GT:AD:DP:GQ:PL	0/1:35,18:63:26:26,0,689	3	0	3	0
chr17	6461508	6461508	C	T	exonic	PITPNM3	.	synonymous SNV	PITPNM3:NM_001165966:exon17:c.G2247A:p.P749P,PITPNM3:NM_031220:exon18:c.G2355A:p.P785P	Cone-rod dystrophy 5, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	192057	Cone-rod_dystrophy_5|not_provided	MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977,Orphanet:1872|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0009	0.000199681	0.0007	0	0	0	0	0.0012	0	0.0004	0.0006339	98	154602	rs146899730	0.0006	0.0006	0.0007	0.0006	0.0010	0.0006	0.0006	0.0007	0.0007	0.0001	6.708e-05	0.0020	0	0.0002	0.0010	0.0007	0.0004	0.0004	0.0006	0.0006	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0009	2.405e-05	0	0	0.0023	0	0.0002	0	0.0011	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.003021	0.000000	0.001359	0.000000	0.000000	0.017241	0.006098	0.003788	0.08333	1166.83	41	chr17	6461508	.	C	T	1166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=331;ExcessHet=0;FS=7.863;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.018;SOR=0.956	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1177,0,1226	5	0	1	0
chr17	11937502	11937502	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_004662:exon12:c.G1576T:p.G526C,DNAH9:NM_001372:exon66:c.G12640T:p.G4214C	.	419	1079	23	1	0	25	0.0114521	.	.	.	1587214	Ciliary_dyskinesia,_primary,_40|DNAH9-related_disorder|not_provided	MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.0493137105476	0.0021	0.00179712	0.0024	0.0005	0.0013	0	0	0.0020	0	0.0083	0.0023027	356	154602	rs144547132	0.0030	0.0030	0.0027	0.0032	0.0114	0.0029	0.0028	0.0092	0.0084	0.0004	0.0013	0.0051	0	1.873e-05	0.0114	0.0029	0.0036	0.0073	0.0020	0.0020	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0007	0	0.0037	0.0040	0	9.42e-05	0.0068	0.0024	0.0052	0.0056	0.002	0.72154	D	0.004	0.74150	D	0.974	0.57829	D	0.928	0.66279	D	0.005051	0.33144	N	0.339387	0.999994	0.08975	N	4.065	0.97128	H	2.92	0.09915	T	-6.01	0.90294	D	0.423	0.52740	-0.6995	0.60462	T	0.155	0.48636	T	10	0.008069009	0.00183	T	0.049314	0.63758	D	0.261	0.57352	.	.	0.650291552413	0.64738	0.514094447207679	0.51332	0.474755460642	0.46659	0.38987326622	0.23652	T	0.241888	0.61051	T	-0.444042	0.01224	T	-0.406607	0.32617	T	0.080413546205679	0.10040	T	0.839916	0.51465	T	0.73322076	0.79906	0.60312414	0.76936	0.745528	0.80611	0.58592963	0.75987	-11.073	0.80057	D	.	.	0.188	0.41783	B	.;.;.	.;.;.	3.387178	0.46878	22.4	0.98877539749797216	0.47754	0.95261	0.64038	D	AEFBI	0.746746	0.68902	D	0.555324367897323	0.70405	5.496964	0.309500935692871	0.56098	3.772689	0.0107041285811074	0.12068	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.87	3.9	0.44240	5.486000	0.66578	3.807000	0.39893	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0759:0.0:0.9241:0.0	13.420	0.60438	635	0.64580	Dynein heavy chain domain;Dynein heavy chain domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2785.06	36	chr17	11937502	.	G	T	2785.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.737;DP=331;ExcessHet=0.4139;FS=2.939;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.801;SOR=0.963	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1336,0,828	4	0	2	0
chr17	17237171	17237171	C	G	upstream	FLCN	dist=3	.	.	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	1308	79	25	110	0	245	0.60794	.	.	.	337331	Nonpapillary_renal_cell_carcinoma|Birt-Hogg-Dube_syndrome_1|Colorectal_cancer|Familial_spontaneous_pneumothorax|FLCN-related_disorder|Birt-Hogg-Dube_syndrome|not_provided	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|.|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.743211	.	.	.	.	.	.	.	.	0.732019	19053	26028	rs1736209	0.8036	0.0332	0.8333	0.7812	1.0000	0.6172	0.5514	0.5955	0.5219	.	.	.	1.0000	0.7500	1.0000	0.8095	0.5000	1.0000	0.7274	0.7275	0.7224	0.7327	0.8462	0.7238	0.7223	0.8252	0.8166	0.6277	0.8495	0.7371	0.7353	0.8462	0.8738	0.6463	0.7531	0.7110	0.7266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	262.35	2	chr17	17237171	.	C	G	262.35	.	AC=6;AF=1;AN=6;DP=9;ExcessHet=0;FS=0;MLEAC=6;MLEAF=1;MQ=60;QD=32.79;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,4:4:12:135,12,0	0	3	0	3
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2487.32	26	chr17	18130817	.	A	AGT	2487.32	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.29;DP=437;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=-0.912;SOR=1.029	GT:AD:DP:GQ:PL	1/0:1,4:14:96:473,241,229	0	0	6	0
chr17	18130817	18130817	-	GTGTGT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327557	not_specified|not_provided|Hearing_loss,_autosomal_recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs1491181087	0.0309	0.0429	0.0293	0.0324	0.0457	0.0306	0.0305	0.0438	0.0430	0.0325	0.0356	0.0252	0.0457	0.0557	0.0313	0.0273	0.0398	0.0422	0.1218	0.1291	0.1239	0.1193	0.1398	0.1200	0.1192	0.1370	0.1359	0.1064	0.0505	0.1128	0.0768	0.0783	0.1064	0.1056	0.1398	0.1146	0.1030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2487.32	26	chr17	18130817	.	A	AGTGTGT	2487.32	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.29;DP=437;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=-0.912;SOR=1.029	GT:AD:DP:GQ:PL	0/1:1,5:14:96:473,96,164	5	0	1	0
chr17	19909228	19909228	T	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_001330152:exon13:c.A1762G:p.I588V,AKAP10:NM_007202:exon14:c.A1936G:p.I646V	.	429	489	464	140	0	744	0.432056	.	.	.	20443	Reclassified_-_variant_of_unknown_significance|AKAP10-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.4504	0.39397	0.3737	0.5879	0.4229	0.1824	0.3464	0.3790	0.3377	0.2956	0.373016	57669	154602	rs203462	0.3854	0.3855	0.3891	0.3817	0.5952	0.3846	0.3842	0.5883	0.5855	0.5952	0.4193	0.3679	0.2016	0.3461	0.4069	0.3927	0.3889	0.3035	0.4277	0.4279	0.4312	0.4241	0.5838	0.4250	0.4238	0.5777	0.5751	0.5838	0.3626	0.4303	0.3698	0.1901	0.3480	0.4150	0.3766	0.4152	0.2874	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999797	0.20333	P	-2.015	0.00187	N	2.01	0.21291	T	0.31	0.04022	N	0.118	0.10769	-0.9687	0.37468	T	0.000	0.00011	T	9	5.4074975e-05	0.00009	T	.	.	.	0.120	0.33359	.	.	.	.	0.1933210593021231	0.19250	0.178928352935	0.20133	0.692670106888	0.66089	T	0.062406	0.31909	T	-0.636176	0.00088	T	-0.542779	0.18025	T	0.00597241672880667	0.00066	T	0.305869	0.05863	T	0.049374104	0.08756	0.061363425	0.11835	0.049374104	0.08756	0.061363425	0.11835	-1.044	0.01049	T	.	.	0.048	0.00179	B	.;.	.;.	1.819896	0.23127	15.90	0.48678567446506221	0.04082	0.07005	0.13031	N	AEFGBI	0.025493	0.01754	N	-0.652311836236643	0.17393	0.8946286	-0.344221069595134	0.26688	1.475766	0.998595863275224	0.37268	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.88	5.88	0.94564	3.391000	0.52271	5.998000	0.52441	-0.192000	0.09343	0.976000	0.34826	1.000000	0.68203	0.953000	0.50222	0.0:0.9244:0.0:0.0756	12.685	0.56308	587	0.69154	A-kinase anchor protein 10, PKA-binding (AKB) domain;A-kinase anchor protein 10, PKA-binding (AKB) domain	RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|AKAP10|RP11-209D14.2|RP11-78O7.2|AKAP10|RP11-209D14.2|CCDC144CP|RP11-78O7.2|RP11-78O7.2|RP11-78O7.2|CCDC144CP|RP11-78O7.2|USP32P3|RP11-78O7.2|RP11-78O7.2|CCDC144CP|USP32P3|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|RP11-78O7.2|RP11-78O7.2|AKAP10|LGALS9B|KRT16P3|RP11-78O7.2|AKAP10|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|AKAP10|RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|CCDC144CP|AKAP10|LGALS9B|RP11-78O7.2|AKAP10|RP11-78O7.2|LGALS9B|RP11-209D14.2|CCDC144CP|USP32P3|SRP68P3|NOS2P3|AC008088.4|RP11-78O7.2|AKAP10|CCDC144CP|USP32P3|RP11-209D14.4|AKAP10|LGALS9B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	AKAP10|CCDC144CP|CCDC144CP|CCDC144CP|CCDC144CP|KRT16P3|CCDC144CP|KRT17P7	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Mucosa|Testis|Testis	rs203462	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.427923	0.474747	0.483696	0.461988	0.350000	0.431034	0.300613	0.378788	0.5	5194.53	39	chr17	19909228	.	T	C	5194.53	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.736;DP=415;ExcessHet=2.3007;FS=2.763;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.035;SOR=0.773	GT:AD:DP:GQ:PL	0/1:34,36:70:99:788,0,908	1	1	4	0
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	17578.6	207	chr17	21300880	.	C	T	17578.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.59;DP=1079;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-0.484;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,66:134:99:0|1:21300875_G_T:2520,0,2626:21300875	0	0	6	0
chr17	31226448	31226448	G	T	exonic	NF1	.	nonsynonymous SNV	NF1:NM_000267:exon18:c.G2015T:p.G672V,NF1:NM_001042492:exon18:c.G2015T:p.G672V	Leukemia, juvenile myelomonocytic, Autosomal dominant, Somatic mutation;Neurofibromatosis, familial spinal, Autosomal dominant;Neurofibromatosis, type 1, Autosomal dominant;Neurofibromatosis-Noonan syndrome, Autosomal dominant;Watson syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	152421	Juvenile_myelomonocytic_leukemia|Hereditary_cancer-predisposing_syndrome|Cardiovascular_phenotype|Neurofibromatosis,_type_1|not_provided	Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN230736|MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.097	0.0386746114985	7.7e-05	.	8.335e-06	0	0	0	0	0	0	6.081e-05	6.5e-06	1	154602	rs371817372	5.474e-06	5.472e-06	4.085e-06	6.877e-06	2.319e-05	2.36e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	3.598e-06	3.313e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.215	0.26306	T	0.0	0.20480	B	0.0	0.23121	B	0.000301	0.46274	D	0.150792	0.999999	0.58761	D	0.895	0.22405	L	3.17	0.09167	T	-1.82	0.42763	N	0.478	0.53006	-0.9982	0.30423	T	0.021	0.08963	T	10	0.1589208	0.29873	T	0.038675	0.58365	D	0.097	0.27909	.	.	0.470076495525	0.46634	0.4574961841152054	0.45667	0.885660446478	0.69981	0.563262581825	0.47727	T	0.579653	0.86215	D	-0.144384	0.29196	T	-0.34832	0.39396	T	0.398458781303527	0.28884	T	0.880312	0.59828	D	0.21009009	0.43295	0.22312436	0.47180	0.21009009	0.43295	0.22312436	0.47179	-3.732	0.20253	T	.	.	0.114	0.22680	B	.;.;.	.;.;.	3.379705	0.46740	22.3	0.98843469211719137	0.47169	0.88489	0.48440	D	AEFBI	0.276353	0.39111	N	-0.079477237025098	0.38294	2.240586	0.152310143813895	0.47263	2.959306	0.996291436468647	0.34649	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	3.035000	0.49449	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.1358:0.8642:0.0	15.725	0.77510	673	0.60677	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1815.83	40	chr17	31226448	.	G	T	1815.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.423;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.7;ReadPosRankSum=-0.461;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,47:80:99:0|1:31226448_G_T:1826,0,1192:31226448	5	0	1	0
chr17	50190877	50190877	G	A	exonic	COL1A1	.	synonymous SNV	COL1A1:NM_000088:exon33:c.C2283T:p.G761G	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	586605	not_specified|Osteogenesis_imperfecta_type_I|not_provided|Cardiovascular_phenotype|Ehlers-Danlos_syndrome	MedGen:CN169374|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	3.304e-05	0	0	0	0	6.004e-05	0	0	2.59e-05	4	154602	rs759665341	4.584e-05	4.583e-05	4.901e-05	4.263e-05	5.486e-05	3.662e-05	3.347e-05	4.352e-05	3.945e-05	2.987e-05	0	0	0	1.873e-05	0	5.486e-05	4.967e-05	1.159e-05	3.287e-05	3.284e-05	3.856e-05	2.692e-05	7.353e-05	1.261e-05	7.98e-06	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	1180.83	36	chr17	50190877	.	G	A	1180.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.106;DP=303;ExcessHet=0;FS=3.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.56;SOR=0.935	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1191,0,1107	5	0	1	0
chr17	59064407	59064407	-	A	splicing	TRIM37	NM_001320989:exon10:c.810-2->T;NM_001005207:exon10:c.810-2->T;NM_001353084:exon10:c.810-2->T;NM_001320990:exon11:c.444-2->T;NM_001320988:exon10:c.810-2->T;NM_001320987:exon9:c.708-2->T;NM_001353085:exon8:c.348-2->T;NM_015294:exon10:c.810-2->T;NM_001353082:exon9:c.708-2->T;NM_001353083:exon10:c.75-2->T	.	.	Mulibrey nanism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	339367	Mulibrey_nanism_syndrome|not_provided	MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0510	.	0.0711	0.0843	0.0487	0.0434	0.0477	0.0585	0.0689	0.1192	0.0001537	4	26028	rs1340781912	0.0887	0.1514	0.0883	0.0890	0.1224	0.0882	0.0880	0.1184	0.1168	0.1224	0.0849	0.1144	0.0708	0.0738	0.1174	0.0862	0.0943	0.1141	0.0253	0.0255	0.0249	0.0257	0.0429	0.0246	0.0243	0.0412	0.0405	0.0429	0.0011	0.0198	0.0360	0.0012	0.0312	0.0532	0.0160	0.0260	0.0359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1527.79	38	chr17	59064407	.	T	TA	1527.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.828;DP=276;ExcessHet=0;FS=2.678;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=-1.113;SOR=1.3	GT:AD:DP:GQ:PL	0/1:15,66:83:99:1538,0,167	5	0	1	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E,CARD14:NM_001366385:exon7:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	505	725	292	0	1309	0.564467	.	.	.	390302	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.432990	0.461957	0.414127	0.444118	0.550000	0.500000	0.412500	0.418605	0.4167	9643.52	41	chr17	80184196	.	G	A	9643.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.983;DP=819;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.162;SOR=0.753	GT:AD:DP:GQ:PL	0/1:89,55:144:99:1382,0,2402	1	0	5	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	15566.7	108	chr17	80184264	.	G	A	15566.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.451;DP=687;ExcessHet=1.383;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=23.55;ReadPosRankSum=0.519;SOR=0.719	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1346,0,1411	0	3	3	0
chr18	57580104	57580104	C	A	exonic	FECH	.	nonsynonymous SNV	FECH:NM_000140:exon2:c.G163T:p.G55C,FECH:NM_001012515:exon2:c.G163T:p.G55C,FECH:NM_001371094:exon2:c.G163T:p.G55C,FECH:NM_001374778:exon2:c.G163T:p.G55C	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	0	1428	91	2	1	96	0.0321925	.	.	.	15587	Protoporphyria,_erythropoietic,_1|not_provided|not_specified	MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.333	.	0.0183	0.0269569	0.0222	0.0164	0.0242	0.0162	0.0178	0.0178	0.0154	0.0475	0.0218044	3371	154602	rs3848519	0.0218	0.0218	0.0212	0.0224	0.0461	0.0216	0.0215	0.0449	0.0444	0.0151	0.0271	0.0043	0.0115	0.0178	0.0191	0.0210	0.0199	0.0461	0.0203	0.0203	0.0199	0.0206	0.0512	0.0197	0.0194	0.0460	0.0439	0.0154	0.1176	0.0340	0.0035	0.0155	0.0176	0.0136	0.0183	0.0204	0.0512	0.174	0.23813	T	0.041	0.50514	D	0.214	0.57599	B	0.174	0.48825	B	0.274696	0.15059	N	0.712091	1	0.08975	N	0	0.06538	N	-4.48	0.97606	D	0.56	0.02764	N	0.152	0.15609	-0.0087	0.82077	T	0.570	0.84426	D	10	0.002217114	0.00032	T	.	.	.	0.333	0.65522	.	.	.	.	.	.	0.724013587441	0.62365	0.322973012924	0.13870	T	0.173614	0.52255	T	-0.321343	0.06788	T	-0.200782	0.54572	T	0.00555085793847404	0.00060	T	0.662034	0.27600	T	0.08802881	0.20522	0.043531016	0.05435	0.06253234	0.13070	0.052749548	0.08749	-6.635	0.51320	T	.	.	0.086	0.11461	B	.;.;.;.	.;.;.;.	1.269418	0.16678	12.70	0.48796855548337736	0.04102	0.11119	0.16420	N	AEFDGBI	0.084074	0.17037	N	-1.2252789467647	0.04636	0.2096441	-1.22242290153849	0.05551	0.2648192	0.999700875770596	0.41986	0.706298	0.61202	0	0.26897	0.04874	2	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	1.58	0.22557	0.874000	0.27715	1.866000	0.29355	-1.028000	0.01704	0.684000	0.28476	0.062000	0.22056	0.002000	0.04165	0.0:0.2851:0.1535:0.5614	4.851	0.12900	969	0.06854	.;.;.;.	NARS	Cells_Cultured_fibroblasts	.	.	rs3848519	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	.	.	.	.	.	.	.	.	0.08333	506.83	40	chr18	57580104	.	C	A	506.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.19;DP=230;ExcessHet=0;FS=2.359;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.341;SOR=0.42	GT:AD:DP:GQ:PL	0/1:29,22:51:99:517,0,713	5	0	1	0
chr19	7125507	7125507	C	T	exonic	INSR	.	nonsynonymous SNV	INSR:NM_001079817:exon16:c.G2998A:p.V1000M,INSR:NM_000208:exon17:c.G3034A:p.V1012M	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, Autosomal dominant;Leprechaunism, Autosomal recessive;Rabson-Mendenhall syndrome, Autosomal recessive	0	1450	72	0	0	72	0.0242261	.	.	.	29746	Monogenic_diabetes|not_specified|not_provided|Rabson-Mendenhall_syndrome|Bailey-Bloch_congenital_myopathy|Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans|Leprechaunism_syndrome|Type_2_diabetes_mellitus	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769|MONDO:MONDO:0009722,MedGen:C1850625,OMIM:255995,Orphanet:168572|MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297|MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508|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	.	.	.	.	.	.	.	.	0.634	.	0.0064	0.00499201	0.0090	0.0018	0.0021	0	0.0067	0.0093	0.0111	0.0225	0.0084346	1304	154602	rs1799816	0.0078	0.0078	0.0070	0.0085	0.0231	0.0076	0.0076	0.0222	0.0219	0.0012	0.0022	0.0161	5.038e-05	0.0069	0.0165	0.0070	0.0084	0.0231	0.0054	0.0054	0.0054	0.0054	0.0178	0.0051	0.0050	0.0148	0.0137	0.0013	0	0.0047	0.0147	0.0002	0.0059	0.0170	0.0071	0.0047	0.0178	0.003	0.68238	D	0.016	0.60972	D	0.998	0.73220	D	0.768	0.56752	P	0.000878	0.41335	D	0.000000	0.925322	0.36801	A	2.875	0.83380	M	-2.51	0.89293	D	-2.42	0.53096	N	0.437	0.47580	0.644	0.92468	D	0.669	0.88531	D	9	0.010013849	0.00224	T	.	.	.	0.634	0.85975	.	.	0.952044451625	0.95153	0.5662976708801534	0.56557	1.39719179774	0.85110	0.765782415867	0.76792	T	0.663144	0.89916	D	-0.0943111	0.37363	T	0.108672	0.77484	D	0.0531365021631275	0.06042	T	0.915508	0.69822	D	0.26451603	0.49519	0.32346871	0.58278	0.36734384	0.58388	0.22650576	0.47629	-9.917	0.73413	D	0.4521786783482736	0.53580	0.193	0.41357	B	.;.	.;.	4.485617	0.70018	25.5	0.99905905516237403	0.97651	0.90575	0.51865	D	AEFDBI	0.348033	0.44230	N	0.624024580061145	0.74697	6.176896	0.605951008884235	0.75372	6.298788	0.99957825998006	0.40495	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.06	5.06	0.67838	2.609000	0.45981	7.593000	0.61311	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.989000	0.64315	0.0:0.9053:0.0:0.0947	9.350	0.37291	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.005051	0.008152	0.020468	0.000000	0.017241	0.012195	0.030303	0.08333	1476.83	35	chr19	7125507	.	C	T	1476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.1;DP=338;ExcessHet=0;FS=0.677;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.137;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,60:137:99:0|1:7125507_C_T:1487,0,3019:7125507	5	0	1	0
chr19	35849354	35849354	C	T	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon7:c.G722A:p.G241E	Nephrotic syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1940737	Finnish_congenital_nephrotic_syndrome|not_provided	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.427	0.0923642841533	.	.	4.39e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs774808086	3.014e-05	3.01e-05	6.816e-06	5.371e-05	0.0005	2.285e-05	2.035e-05	0.0003	0.0003	0	0	0	0	0	0	2.699e-06	3.321e-05	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.015	0.61437	D	0.018	0.59732	D	0.967	0.56408	D	0.546	0.49068	P	0.040066	0.24099	N	0.473415	0.651075	0.30533	N	1.84	0.48285	L	-1.95	0.85003	D	-5.82	0.88289	D	0.646	0.67218	0.123	0.84590	D	0.546	0.83317	D	10	0.6704592	0.70682	D	0.092364	0.75879	D	0.427	0.73445	0.391	0.41443	0.878039913388	0.87685	0.6638083691148416	0.66317	0.226509947091	0.25203	0.631253600121	0.57324	T	0.707527	0.91631	D	-0.130261	0.31455	T	-0.0948856	0.63790	T	0.343732923269272	0.26771	T	0.709529	0.32034	T	0.5707976	0.71105	0.56636673	0.74900	0.5707976	0.71106	0.56636673	0.74900	-7.112	0.54846	T	0.10574174463086344	0.08419	0.126	0.26825	B	.;.	.;.	3.323363	0.45721	22.2	0.99514303194637965	0.68858	0.62235	0.31720	D	AEFBI	0.351727	0.44473	N	0.364589942735047	0.59514	4.131452	0.356458741296176	0.58898	4.063365	0.195682555521474	0.18055	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	2.449000	0.44592	3.953000	0.40689	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.108000	0.18652	0.0:1.0:0.0:0.0	13.646	0.61754	796	0.45353	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	514.83	40	chr19	35849354	.	C	T	514.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.622;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.025;SOR=0.616	GT:AD:DP:GQ:PL	0/1:23,18:41:99:525,0,650	5	0	1	0
chr19	45496963	45496965	GCC	-	UTR5	RTN2	NM_206900:c.-138_-140delGGC;NM_005619:c.-138_-140delGGC	.	.	Spastic paraplegia 12, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1285511	not_provided|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003842	100	26028	rs3038807	0.1785	0.1426	0.1702	0.1855	0.2308	0.1769	0.1762	0.2239	0.2211	0.1155	0.1825	0.1574	0.2308	0.3034	0.0900	0.1667	0.1708	0.0810	0.2293	0.2301	0.2259	0.2328	0.2801	0.2272	0.2264	0.2678	0.2629	0.1878	0.4232	0.2377	0.2125	0.2801	0.3600	0.1028	0.2376	0.2108	0.1203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	223.07	6	chr19	45496962	.	AGCC	A	223.07	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.366;DP=34;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=0.652;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:133,9,0	4	1	0	1
chr19	55133875	55133875	G	A	intronic	TNNT1	.	.	.	Nemaline myopathy 5, Amish type, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	350399	Nemaline_myopathy_5|not_provided	MONDO:MONDO:0011539,MedGen:C1854380,OMIM:605355,Orphanet:98902|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0024	0.0002	8.663e-05	0.0005	0	3.026e-05	0	0.0172	0.0020892	323	154602	rs201143291	0.0011	0.0011	0.0006	0.0016	0.0175	0.0011	0.0010	0.0168	0.0165	0	0	0	0.0001	0	0.0009	3.058e-05	0.0010	0.0175	0.0006	0.0006	0.0003	0.0010	0.0177	0.0005	0.0005	0.0146	0.0135	0.0001	0	0	0	0.0002	0	0	5.882e-05	0	0.0177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	414.83	33	chr19	55133875	.	G	A	414.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.51;DP=217;ExcessHet=0;FS=2.913;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.532;SOR=0.301	GT:AD:DP:GQ:PL	0/1:26,16:42:99:425,0,615	5	0	1	0
chr19	55154042	55154042	C	T	exonic	TNNI3	.	unknown	UNKNOWN	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	14	1118	329	61	0	451	0.167845	.	.	YES	52561	Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Cardiomyopathy|Cardiomyopathy,_familial_restrictive,_1|Hypertrophic_cardiomyopathy_7|Primary_ciliary_dyskinesia	MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0485	0.0477236	0.0660	0.0124	0.0333	0.0448	0.0631	0.0718	0.0944	0.1065	0.0637314	9853	154602	rs3729841	0.0678	0.0679	0.0658	0.0699	0.1603	0.0675	0.0673	0.1510	0.1473	0.0123	0.0360	0.0934	0.0259	0.0627	0.1603	0.0680	0.0744	0.1089	0.0510	0.0512	0.0507	0.0512	0.1023	0.0500	0.0496	0.0949	0.0919	0.0122	0.1086	0.0409	0.0968	0.0417	0.0598	0.1463	0.0686	0.0696	0.1023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.131923	0.080808	0.118207	0.178363	0.100000	0.086207	0.143293	0.128788	0.1667	3613.06	37	chr19	55154042	.	C	T	3613.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.129;DP=471;ExcessHet=0.4139;FS=3.007;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.035;SOR=0.55	GT:AD:DP:GQ:PL	0/1:75,49:124:99:1162,0,2201	4	0	2	0
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	65	466	590	401	0	1392	0.598967	.	.	.	334414	not_provided|Spermatogenic_Failure	MedGen:C3661900|MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2485.44	35	chr19	57231146	.	G	GC	2485.44	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.567;DP=238;ExcessHet=0;FS=2.655;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=26.44;ReadPosRankSum=-1.401;SOR=1.221	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1005,93,0	3	2	1	0
chr20	8881782	8881782	A	G	exonic	PLCB1	.	nonsynonymous SNV	PLCB1:NM_015192:exon32:c.A3584G:p.H1195R	Epileptic encephalopathy, early infantile, 12, Autosomal recessive	1	1499	21	1	0	23	0.00761337	.	.	.	267446	PLCB1-related_disorder|not_specified|not_provided|Developmental_and_epileptic_encephalopathy,_12|Inborn_genetic_diseases	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.143	0.00724350499262	7.7e-05	0.00159744	0.0011	0	0.0055	0	0	0.0005	0.0011	0.0022	0.0009379	145	154602	rs186429469	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0024	0.0022	2.987e-05	0.0028	0.0005	0	0	0.0024	0.0002	0.0007	0.0022	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	9.62e-05	0	0.0005	0.0006	0	0	0.0034	0.0002	0	0.0029	0.06	0.37326	T	0.263	0.22962	T	0.932	0.51990	P	0.888	0.63021	P	0.008489	0.30815	N	0.371129	0.988115	0.81001	D	0	0.06538	N	2.17	0.19020	T	-1.16	0.29727	N	0.288	0.32591	-1.0598	0.11805	T	0.053	0.22307	T	10	0.0051480234	0.00112	T	0.007244	0.19198	T	0.143	0.38195	.	.	0.433430666707	0.42962	0.353458938204218	0.35259	0.380248947977	0.39388	0.508864760399	0.40064	T	0.253467	0.62399	T	-0.500714	0.00566	T	-0.496321	0.22730	T	0.108825234293612	0.13301	T	0.613539	0.23382	T	0.079749025	0.18237	0.10729163	0.25826	0.08900321	0.20782	0.11693834	0.28229	-2.535	0.06025	T	.	.	0.072	0.06803	B	.;.	.;.	3.038744	0.40735	21.2	0.98215268806454992	0.39246	0.98364	0.82028	D	AEFI	0.790212	0.71917	D	0.312091209183244	0.56768	3.842177	0.394338499886534	0.61214	4.318542	0.717888030655403	0.22896	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.98	4.86	0.62624	6.736000	0.74614	6.959000	0.57050	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8687:0.0:0.0:0.1313	12.216	0.53719	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	700.83	35	chr20	8881782	.	A	G	700.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.154;DP=285;ExcessHet=0;FS=8.34;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=0.395;SOR=1.159	GT:AD:DP:GQ:PL	0/1:70,34:104:99:711,0,1811	5	0	1	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	212	501	433	376	0	1185	0.541838	.	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	768.99	6	chr20	44429378	.	T	C	768.99	.	AC=8;AF=0.8;AN=10;DP=27;ExcessHet=0;FS=0;MLEAC=8;MLEAF=0.8;MQ=60;QD=34.95;SOR=1.931	GT:AD:DP:GQ:PL	1/1:0,7:7:21:224,21,0	1	4	0	1
chr22	18085172	18085172	C	T	exonic	PEX26	.	nonsynonymous SNV	PEX26:NM_001127649:exon4:c.C728T:p.A243V,PEX26:NM_017929:exon5:c.C728T:p.A243V	Peroxisome biogenesis disorder 7A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 7B, Autosomal recessive	0	1485	36	1	0	38	0.012633	.	.	.	101776	not_provided|not_specified|Peroxisome_biogenesis_disorder_7A_(Zellweger)|Peroxisome_biogenesis_disorder_7B	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013938,MedGen:C3888385,OMIM:614872,Orphanet:912|MONDO:MONDO:0013939,MedGen:C3553951,OMIM:614873,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.0474069941573	0.0013	0.000599042	0.0025	0.0005	0.0049	0	0	0.0027	0.0055	0.0031	0.002238	346	154602	rs149153003	0.0020	0.0020	0.0019	0.0021	0.0078	0.0019	0.0019	0.0060	0.0054	0.0003	0.0028	0.0143	5.038e-05	1.872e-05	0.0078	0.0017	0.0036	0.0037	0.0015	0.0015	0.0015	0.0016	0.0027	0.0014	0.0013	0.0016	0.0015	0.0002	0	0.0010	0.0161	0	0	0.0170	0.0019	0.0024	0.0027	1.0	0.00964	T	0.892	0.03117	T	0.037	0.20876	B	0.008	0.13708	B	0.807127	0.06805	N	1.130330	1	0.08975	N	1.445	0.36358	L	-3.31	0.93835	D	0.39	0.03521	N	0.169	0.17966	-0.4963	0.68783	T	0.459	0.78970	T	10	0.0070671737	0.00161	T	0.047407	0.62906	D	0.197	0.47942	.	.	0.713262185059	0.71075	0.18857996755709533	0.18775	0.169790244603	0.19148	0.245509326458	0.03309	T	0.160927	0.50497	T	-0.343929	0.05120	T	-0.26828	0.47994	T	0.0011585195957036	0.00011	T	0.680032	0.28847	T	0.013598841	0.00064	0.029807605	0.01360	0.01283413	0.00043	0.033644404	0.02294	-3.795	0.20730	T	0.18329792778732906	0.23723	0.085	0.10256	B	.;.	.;.	1.406946	0.18215	13.61	0.90691769302167446	0.19942	0.02475	0.06940	N	AEFDBI	0.039902	0.05861	N	-1.08820130963749	0.06860	0.3169854	-1.0370179735868	0.08979	0.4442657	0.99972819727319	0.42220	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	-1.98	0.07070	0.506000	0.22367	-0.028000	0.12833	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.425000	0.27339	0.0:0.3426:0.1547:0.5026	5.148	0.14322	835	0.38313	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.010870	0.002924	0.000000	0.017241	0.003049	0.007576	0.08333	856.83	34	chr22	18085172	.	C	T	856.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.111;DP=250;ExcessHet=0;FS=3.6;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=1.92;SOR=1.25	GT:AD:DP:GQ:PL	0/1:29,33:62:99:867,0,777	5	0	1	0
chr22	32043316	32043316	C	T	exonic	SLC5A1	.	nonsynonymous SNV	SLC5A1:NM_000343:exon1:c.C35T:p.A12V	Glucose/galactose malabsorption, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	493545	not_provided|not_specified|Congenital_glucose-galactose_malabsorption	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011731,MedGen:C0268186,OMIM:606824,Orphanet:35710	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.505	0.0850892988681	0.0007	0.000399361	0.0010	9.812e-05	0.0003	0	0	0.0014	0.0023	0.0009	0.0008667	134	154602	rs150288967	0.0006	0.0006	0.0006	0.0007	0.0016	0.0006	0.0006	0.0008	0.0008	8.961e-05	0.0004	0.0145	2.519e-05	0	0.0016	0.0003	0.0014	0.0010	0.0009	0.0009	0.0009	0.0009	0.0012	0.0008	0.0007	0.0008	0.0006	4.81e-05	0	0.0012	0.0199	0	9.409e-05	0.0068	0.0006	0.0024	0.0008	0.061	0.37118	T	0.406	0.14725	T	0.001	0.07471	B	0.001	0.04355	B	0.098823	0.02528	N	1.733900	1	0.08975	N	1.905	0.50856	L	-2.06	0.85875	D	-1.46	0.35792	N	0.061	0.03283	-0.7007	0.60404	T	0.465	0.79317	T	10	0.004654914	0.00097	T	0.085089	0.74461	D	0.505	0.78662	.	.	0.747006263103	0.74472	0.266694549339179	0.26582	0.463755388892	0.45870	0.317358285189	0.13020	T	0.090024	0.38498	T	-0.18738	0.22644	T	-0.0982831	0.63530	T	0.0174199961141006	0.00479	T	0.330167	0.06908	T	0.0670848	0.14496	0.11304056	0.27278	0.058023643	0.11621	0.14435951	0.34274	-3.989	0.23639	T	.	.	0.085	0.10352	B	.	.	1.013699	0.13930	10.49	0.99136788943025422	0.53410	0.08302	0.14249	N	AEFDBHCI	0.094886	0.19179	N	-0.763499697619612	0.14269	0.7094192	-0.767030968859746	0.15305	0.8042273	0.953056415919183	0.28052	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.75	3.73	0.41982	1.107000	0.30724	-0.250000	0.10515	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.897:0.0:0.103	8.748	0.33760	195	0.92448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	791.83	35	chr22	32043316	.	C	T	791.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.137;SOR=0.726	GT:AD:DP:GQ:PL	0/1:41,33:74:99:802,0,916	5	0	1	0
chr22	41152194	41152194	G	A	intronic	EP300	.	.	.	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	0.0007	0.036	.	169829	not_provided|Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency	MedGen:C3661900|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0078	0.00778754	0.0021	0.0236	0.0011	0	0	0.0001	0	0.0002	0.002044	316	154602	rs115849119	0.0008	0.0008	0.0009	0.0007	0.0257	0.0007	0.0007	0.0243	0.0237	0.0257	0.0012	0	0	0	0.0014	4.678e-05	0.0022	0.0002	0.0077	0.0077	0.0078	0.0077	0.0272	0.0074	0.0072	0.0259	0.0253	0.0272	0	0.0020	0	0	0	0	7.351e-05	0.0057	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	398.83	34	chr22	41152194	.	G	A	398.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.761;DP=169;ExcessHet=0;FS=1.596;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=1.35;SOR=1.112	GT:AD:DP:GQ:PL	0/1:9,17:26:99:409,0,163	5	0	1	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E	.	425	173	454	470	0	1394	0.801149	.	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.568983	0.565657	0.542120	0.570175	0.550000	0.517241	0.573171	0.662879	0.3333	6331.96	137	chr22	43946236	.	A	G	6331.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.004;DP=579;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.8;SOR=0.684	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1473,0,1339	2	0	4	0
chrX	49191692	49191692	G	A	exonic	SYP	.	synonymous SNV	SYP:NM_003179:exon6:c.C687T:p.A229A	Mental retardation, X-linked 96, X-linked dominant	0	1519	3	0	0	3	0.000986518	.	.	.	195319	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.012	.	0.0017	0.00344371	0.0028	0.0080	0.0001	0	0	0.0002	0	0.0147	0.0019017	294	154602	rs201427270	0.0008	0.0008	0.0006	0.0011	0.0099	0.0007	0.0007	0.0092	0.0089	0.0079	0.0003	0	0	0.0001	0.0002	6.787e-05	0.0011	0.0099	0.0023	0.0023	0.0021	0.0027	0.0072	0.0020	0.0019	0.0064	0.0061	0.0072	0	0.0006	0	0	0	0	7.492e-05	0.0013	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002764	0.000000	0.003711	0.000000	0.000000	0.000000	0.000000	0.010526	0.08333	331.83	36	chrX	49191692	.	G	A	331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.35;DP=136;ExcessHet=0;FS=7.574;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=1.41;SOR=1.684	GT:AD:DP:GQ:PL	0/1:9,11:20:99:342,0,208	5	0	1	0
chrX	71132767	71132767	-	CTCTT	intronic	MED12	.	.	.	Lujan-Fryns syndrome, X-linked recessive;Ohdo syndrome, X-linked, X-linked recessive;Opitz-Kaveggia syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	101149	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1219529434	0.0956	0.0966	0.0997	0.0853	0.2167	0.0949	0.0946	0.2117	0.2096	0.0541	0.1017	0.0779	0.2167	0.1543	0.0965	0.0813	0.1061	0.1351	0.1337	0.1587	0.1476	0.0804	0.2432	0.1317	0.1309	0.2274	0.2211	0.0805	0.2113	0.1239	0.1098	0.2432	0.1334	0.1111	0.1574	0.1283	0.1640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9645.49	50	chrX	71132767	.	C	CCTCTT	9645.49	.	AC=1;AF=0.083;AN=12;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;QD=30.58;SOR=1.647	GT:AD:DP:GQ:PL	0/1:0,14:40:99:1493,1005,964	5	0	1	0
chrX	133704278	133704278	A	-	intronic	GPC3	.	.	.	Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive;Wilms tumor, somatic	1	149	65	0	11	76	0.179063	.	.	.	1164583	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3076	0.2675	0.3111	0.3898	0.3058	0.3709	0.3238	0.1926	0.0006916	18	26028	rs374169314	0.1287	0.1448	0.1649	0.0007	0.1730	0.1280	0.1276	0.1670	0.1646	0.1118	0.1730	0.1608	0.1657	0.1779	0.1065	0.1249	0.1391	0.1169	0.0077	0.0090	0.0082	0.0061	0.0202	0.0072	0.0070	0.0188	0.0182	0.0202	0	0.0056	0.0043	0.0049	0.0071	0.0052	0.0013	0.0074	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	95.98	39	chrX	133704277	.	GA	G	95.98	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.357;DP=241;ExcessHet=1.383;FS=3.973;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=-0.12;SOR=0.389	GT:AD:DP:GQ:PL	0/1:34,6:43:31:31,0,803	3	0	3	0
chrX	153866778	153866778	C	T	exonic	L1CAM	.	nonsynonymous SNV	L1CAM:NM_001143963:exon17:c.G2287A:p.V763I,L1CAM:NM_000425:exon18:c.G2302A:p.V768I,L1CAM:NM_024003:exon18:c.G2302A:p.V768I,L1CAM:NM_001278116:exon19:c.G2302A:p.V768I	CRASH syndrome, X-linked recessive;Corpus callosum, partial agenesis of, X-linked recessive;Hydrocephalus due to aqueductal stenosis, X-linked recessive;Hydrocephalus with Hirschsprung disease, X-linked recessive;Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive;MASA syndrome, X-linked recessive	0	1501	15	6	0	27	0.00891383	.	.	.	98831	Spastic_paraplegia|not_specified|Hereditary_spastic_paraplegia|Inborn_genetic_diseases|not_provided	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	.	0.0016	0.00264901	0.0022	0.0002	0.0004	0	0.0004	0.0025	0.0032	0.0063	0.0022639	350	154602	rs36021462	0.0033	0.0033	0.0032	0.0036	0.0059	0.0032	0.0032	0.0054	0.0052	0.0003	0.0005	0	0	0.0008	0.0039	0.0037	0.0025	0.0059	0.0019	0.0019	0.0019	0.0018	0.0060	0.0017	0.0016	0.0038	0.0031	0.0006	0.0117	0.0004	0	0	0.0003	0	0.0030	0.0020	0.0060	0.004	0.65419	D	0.03	0.55341	D	0.265	0.40310	B	0.539	0.48797	P	0.001303	0.39449	N	0.107097	1	0.08975	N	1.645	0.42016	L	0.26	0.59314	T	-0.78	0.21644	N	0.088	0.10056	-0.8554	0.51592	T	0.229	0.59497	T	10	0.004782349	0.00101	T	.	.	.	0.081	0.23632	.	.	0.477087225981	0.47339	0.7691739690101598	0.76866	0.743790545488	0.63406	0.429857313633	0.29189	T	0.374624	0.73839	T	-0.570758	0.00219	T	-0.589741	0.13689	T	0.0324202180366073	0.02375	T	0.911109	0.68490	D	0.29763645	0.52692	0.2372083	0.49012	0.26925862	0.49998	0.23485817	0.48713	-6.299	0.48714	T	0.2835390748191692	0.37921	0.153	0.34160	B	.;.;.;.	.;.;.;.	2.328804	0.29829	18.25	0.99293621080318295	0.58362	0.07918	0.13905	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.708893416899347	0.22794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	4.4	0.52402	0.348000	0.19784	.	.	0.594000	0.32500	0.000000	0.06391	1.000000	0.68203	0.807000	0.38039	0.1577:0.8423:0.0:0.0	13.443	0.60573	155	0.93937	.;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	0.004129	0.020408	0.000000	0.003953	0.000000	0.011765	0.000000	0.005263	0.08333	879.83	35	chrX	153866778	.	C	T	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.086;DP=272;ExcessHet=0;FS=0.829;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.087;SOR=0.848	GT:AD:DP:GQ:PL	0/1:54,37:91:99:890,0,1471	5	0	1	0
chrX	154354678	154354678	G	A	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001456:exon31:c.C5227T:p.P1743S,FLNA:NM_001110556:exon32:c.C5251T:p.P1751S	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	0	1495	17	10	0	37	0.0122233	.	.	.	210478	not_specified|Connective_tissue_disorder|not_provided|Heterotopia,_periventricular,_X-linked_dominant|Oto-palato-digital_syndrome,_type_II|Frontometaphyseal_dysplasia|Melnick-Needles_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.0688554207083	0.0006	0.000264901	0.0010	0	0.0003	0	0	0.0016	0	0.0008	0.0008215	127	154602	rs56102764	0.0008	0.0008	0.0007	0.0009	0.0111	0.0007	0.0007	0.0086	0.0077	0.0001	0.0001	0.0049	0	0	0.0111	0.0007	0.0014	0.0009	0.0007	0.0007	0.0008	0.0006	0.0011	0.0006	0.0006	0.0008	0.0008	9.589e-05	0	0.0005	0.0053	0	0	0.0092	0.0011	0.0013	0	0.402	0.10412	T	0.508	0.10930	T	0.0	0.02946	B	0.001	0.06944	B	0.228215	0.15980	N	0.540328	1	0.18198	N	0	0.06538	N	-1.95	0.85173	D	0.02	0.06739	N	0.088	0.09631	-0.8851	0.49349	T	0.298	0.66970	T	10	0.0062868297	0.00142	T	0.068855	0.70567	D	0.062	0.17934	.	.	0.671905356834	0.66913	0.3444627069783037	0.34360	0.521825689874	0.49937	0.378045916557	0.21979	T	0.299845	0.67236	T	-0.477137	0.00769	T	-0.508592	0.21461	T	0.00247827947654632	0.00026	T	0.728927	0.35940	T	0.033331018	0.03532	0.07627959	0.16878	0.03553647	0.04202	0.089947626	0.21065	-2.951	0.10159	T	.	.	0.055	0.00793	B	.;.;.;.;.	.;.;.;.;.	1.144072	0.15318	11.76	0.79263957656027895	0.12663	0.04485	0.10101	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999919255220996	0.45857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.67	0.817	0.17914	0.541000	0.22915	0.735000	0.21116	0.650000	0.52971	0.329000	0.25581	0.534000	0.25378	0.682000	0.33600	0.3881:0.1682:0.4438:0.0	4.089	0.09437	77	0.96778	.;.;.;.;.	.	.	.	.	.	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	0.009066	0.006993	0.005576	0.012048	0.000000	0.023529	0.009050	0.010638	0.08333	862.83	36	chrX	154354678	.	G	A	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.71;SOR=0.757	GT:AD:DP:GQ:PL	0/1:31,27:58:99:873,0,992	5	0	1	0